WorldWideScience

Sample records for genetically informed neuroimaging

  1. Understanding genetics in neuroimaging.

    Science.gov (United States)

    Vasquez, Marina Lipkin; Renault, Ilana Zalcberg

    2015-02-01

    Gene expression is a process of DNA sequence reading into protein synthesis. In cases of problems in DNA repair/apoptosis mechanisms, cells accumulate genomic abnormalities and pass them through generations of cells. The accumulation of mutations causes diseases and even tumors. In addition to cancer, many other neurologic conditions have been associated with genetic mutations. Some trials are testing patients with epigenetic treatments. Epigenetic therapy must be used with caution because epigenetic processes and changes happen constantly in normal cells, giving rise to drug off-target effects. Scientists are making progress in specifically targeting abnormal cells with minimal damage to normal ones. Copyright © 2015. Published by Elsevier Inc.

  2. 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...... imaging can establish important links between genes and behaviour. The overarching goal is to use genetically informed brain imaging to pinpoint neurobiological mechanisms that contribute to behavioural intermediate phenotypes or disease states. This special issue on "Linking Genes to Brain Function...... in Health and Disease" provides an overview over how the "imaging genetics" approach is currently applied in the various fields of systems neuroscience to reveal the genetic underpinnings of complex behaviours and brain diseases. While the rapidly emerging field of imaging genetics holds great promise...

  3. Design and rationale for examining neuroimaging genetics in ischemic stroke

    Science.gov (United States)

    Giese, Anne-Katrin; Schirmer, Markus D.; Donahue, Kathleen L.; Cloonan, Lisa; Irie, Robert; Winzeck, Stefan; Bouts, Mark J.R.J.; McIntosh, Elissa C.; Mocking, Steven J.; Dalca, Adrian V.; Sridharan, Ramesh; Xu, Huichun; Frid, Petrea; Giralt-Steinhauer, Eva; Holmegaard, Lukas; Roquer, Jaume; Wasselius, Johan; Cole, John W.; McArdle, Patrick F.; Broderick, Joseph P.; Jimenez-Conde, Jordi; Jern, Christina; Kissela, Brett M.; Kleindorfer, Dawn O.; Lemmens, Robin; Lindgren, Arne; Meschia, James F.; Rundek, Tatjana; Sacco, Ralph L.; Schmidt, Reinhold; Sharma, Pankaj; Slowik, Agnieszka; Thijs, Vincent; Woo, Daniel; Worrall, Bradford B.; Kittner, Steven J.; Mitchell, Braxton D.; Rosand, Jonathan; Golland, Polina; Wu, Ona

    2017-01-01

    Objective: To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI–GENetics Interface Exploration (MRI-GENIE) study. Methods: MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributed MRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants. Neuroimaging analyses include the manual and automated assessments of established MRI markers. A high-throughput MRI analysis pipeline for the automated assessment of cerebrovascular lesions on clinical scans will be developed in a subset of scans for both acute and chronic lesions, validated against gold standard, and applied to all available scans. The extracted neuroimaging phenotypes will improve characterization of acute and chronic cerebrovascular lesions in ischemic stroke, including CCS subtypes, and their effect on functional outcomes after stroke. Moreover, genetic testing will uncover variants associated with acute and chronic MRI manifestations of cerebrovascular disease. Conclusions: The MRI-GENIE study aims to develop, validate, and distribute the MRI analysis platform for scans acquired as part of clinical care for patients with AIS, which will lead to (1) novel genetic discoveries in ischemic stroke, (2) strategies for personalized stroke risk assessment, and (3) personalized stroke outcome assessment. PMID:28852707

  4. Dissociable genetic contributions to error processing: a multimodal neuroimaging study.

    Directory of Open Access Journals (Sweden)

    Yigal Agam

    Full Text Available Neuroimaging studies reliably identify two markers of error commission: the error-related negativity (ERN, an event-related potential, and functional MRI activation of the dorsal anterior cingulate cortex (dACC. While theorized to reflect the same neural process, recent evidence suggests that the ERN arises from the posterior cingulate cortex not the dACC. Here, we tested the hypothesis that these two error markers also have different genetic mediation.We measured both error markers in a sample of 92 comprised of healthy individuals and those with diagnoses of schizophrenia, obsessive-compulsive disorder or autism spectrum disorder. Participants performed the same task during functional MRI and simultaneously acquired magnetoencephalography and electroencephalography. We examined the mediation of the error markers by two single nucleotide polymorphisms: dopamine D4 receptor (DRD4 C-521T (rs1800955, which has been associated with the ERN and methylenetetrahydrofolate reductase (MTHFR C677T (rs1801133, which has been associated with error-related dACC activation. We then compared the effects of each polymorphism on the two error markers modeled as a bivariate response.We replicated our previous report of a posterior cingulate source of the ERN in healthy participants in the schizophrenia and obsessive-compulsive disorder groups. The effect of genotype on error markers did not differ significantly by diagnostic group. DRD4 C-521T allele load had a significant linear effect on ERN amplitude, but not on dACC activation, and this difference was significant. MTHFR C677T allele load had a significant linear effect on dACC activation but not ERN amplitude, but the difference in effects on the two error markers was not significant.DRD4 C-521T, but not MTHFR C677T, had a significant differential effect on two canonical error markers. Together with the anatomical dissociation between the ERN and error-related dACC activation, these findings suggest that

  5. 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.; Hartman, Catharina A.; Hoekstra, Pieter J.; Penninx, Brenda W.; Schmaal, Lianne; van Tol, Marie-Jose

    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,

  6. 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.; 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

    2014-01-01

    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,

  7. 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); 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); L.T. Strike (Lachlan); 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); J.R. Almeida (Jorge); 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

  8. Emerging Global Initiatives in Neurogenetics: The Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) Consortium.

    Science.gov (United States)

    Bearden, Carrie E; Thompson, Paul M

    2017-04-19

    The Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) Consortium is a global team science effort, now including over 800 scientists spread across 340 institutions in 35 countries, with the shared goal of understanding disease and genetic influences on the brain. This "crowdsourcing" approach to team neuroscience has unprecedented power for advancing our understanding of both typical and atypical human brain development. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. 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.

  10. Generic Machine Learning Pattern for Neuroimaging-Genetic Studies in the Cloud

    Directory of Open Access Journals (Sweden)

    Benoit eDa Mota

    2014-04-01

    Full Text Available 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 two weeks deployment on hundreds of virtual machines.

  11. Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study.

    Science.gov (United States)

    Giese, Anne-Katrin; Schirmer, Markus D; Donahue, Kathleen L; Cloonan, Lisa; Irie, Robert; Winzeck, Stefan; Bouts, Mark J R J; McIntosh, Elissa C; Mocking, Steven J; Dalca, Adrian V; Sridharan, Ramesh; Xu, Huichun; Frid, Petrea; Giralt-Steinhauer, Eva; Holmegaard, Lukas; Roquer, Jaume; Wasselius, Johan; Cole, John W; McArdle, Patrick F; Broderick, Joseph P; Jimenez-Conde, Jordi; Jern, Christina; Kissela, Brett M; Kleindorfer, Dawn O; Lemmens, Robin; Lindgren, Arne; Meschia, James F; Rundek, Tatjana; Sacco, Ralph L; Schmidt, Reinhold; Sharma, Pankaj; Slowik, Agnieszka; Thijs, Vincent; Woo, Daniel; Worrall, Bradford B; Kittner, Steven J; Mitchell, Braxton D; Rosand, Jonathan; Golland, Polina; Wu, Ona; Rost, Natalia S

    2017-10-01

    To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI-GENetics Interface Exploration (MRI-GENIE) study. MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributed MRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants. Neuroimaging analyses include the manual and automated assessments of established MRI markers. A high-throughput MRI analysis pipeline for the automated assessment of cerebrovascular lesions on clinical scans will be developed in a subset of scans for both acute and chronic lesions, validated against gold standard, and applied to all available scans. The extracted neuroimaging phenotypes will improve characterization of acute and chronic cerebrovascular lesions in ischemic stroke, including CCS subtypes, and their effect on functional outcomes after stroke. Moreover, genetic testing will uncover variants associated with acute and chronic MRI manifestations of cerebrovascular disease. The MRI-GENIE study aims to develop, validate, and distribute the MRI analysis platform for scans acquired as part of clinical care for patients with AIS, which will lead to (1) novel genetic discoveries in ischemic stroke, (2) strategies for personalized stroke risk assessment, and (3) personalized stroke outcome assessment.

  12. 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.

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

    Science.gov (United States)

    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

    2015-03-01

    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 ADHD. The NeuroIMAGE study is a follow-up of the Dutch part of the International Multicenter ADHD Genetics (IMAGE) project. It is a multi-site prospective cohort study designed to investigate the course of ADHD, its genetic and environmental determinants, its cognitive and neurobiological underpinnings, and its consequences in adolescence and adulthood. From the original 365 ADHD families and 148 control (CON) IMAGE families, consisting of 506 participants with an ADHD diagnosis, 350 unaffected siblings, and 283 healthy controls, 79 % participated in the NeuroIMAGE follow-up study. Combined with newly recruited participants the NeuroIMAGE study comprehends an assessment of 1,069 children (751 from ADHD families; 318 from CON families) and 848 parents (582 from ADHD families; 266 from CON families). For most families, data for more than one child (82 %) and both parents (82 %) were available. Collected data include a diagnostic interview, behavioural questionnaires, cognitive measures, structural and functional neuroimaging, and genome-wide genetic information. The NeuroIMAGE dataset allows examining the course of ADHD over adolescence into young adulthood, identifying phenotypic, cognitive, and neural mechanisms associated with the persistence versus remission of ADHD, and studying their genetic and environmental underpinnings. The inclusion of siblings of ADHD probands and controls allows modelling of shared familial influences on the ADHD phenotype.

  14. 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

  15. Generalized reduced rank latent factor regression for high dimensional tensor fields, and neuroimaging-genetic applications.

    Science.gov (United States)

    Tao, Chenyang; Nichols, Thomas E; Hua, Xue; Ching, Christopher R K; Rolls, Edmund T; Thompson, Paul M; Feng, Jianfeng

    2017-01-01

    We propose a generalized reduced rank latent factor regression model (GRRLF) for the analysis of tensor field responses and high dimensional covariates. The model is motivated by the need from imaging-genetic studies to identify genetic variants that are associated with brain imaging phenotypes, often in the form of high dimensional tensor fields. GRRLF identifies from the structure in the data the effective dimensionality of the data, and then jointly performs dimension reduction of the covariates, dynamic identification of latent factors, and nonparametric estimation of both covariate and latent response fields. After accounting for the latent and covariate effects, GRLLF performs a nonparametric test on the remaining factor of interest. GRRLF provides a better factorization of the signals compared with common solutions, and is less susceptible to overfitting because it exploits the effective dimensionality. The generality and the flexibility of GRRLF also allow various statistical models to be handled in a unified framework and solutions can be efficiently computed. Within the field of neuroimaging, it improves the sensitivity for weak signals and is a promising alternative to existing approaches. The operation of the framework is demonstrated with both synthetic datasets and a real-world neuroimaging example in which the effects of a set of genes on the structure of the brain at the voxel level were measured, and the results compared favorably with those from existing approaches. Copyright © 2016. Published by Elsevier Inc.

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    Anand D. Sarwate

    2014-04-01

    Full Text Available 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 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.

  18. 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

  19. 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

    2017-11-01

    . 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.

  20. 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......) used to determine the parameters in the model. Cross-validation resampling is used to obtain unbiased estimates of a generic multivariate Gaussian classifier, for training set sizes from 2 to 16 subjects. We apply the framework to four different activation experiments, in this case \\$\\backslash......\\$[/sup 15/ O]water data sets, although the framework is equally valid for multisubject fMRI studies. We demonstrate how the prediction error can be expressed as the mutual information between the scan and the scan label, measured in units of bits. The mutual information learning curve can be used...

  1. 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.

  2. Property and Human Genetic Information

    DEFF Research Database (Denmark)

    Nielsen, Morten Ebbe Juul; Kongsholm, Nana Cecilie Halmsted; Schovsbo, Jens Hemmingsen

    2018-01-01

    Do donors (of samples from which genetic information is derived) have some sort of pre-legal (moral) or legal property right tothat information? In this paper, we address this question from both a moral philosophical and a legal point of view. We argue thatphilosophical theories about property do...

  3. Property and Human Genetic Information

    DEFF Research Database (Denmark)

    Nielsen, Morten Ebbe Juul; Kongsholm, Nana Cecilie Halmsted; Schovsbo, Jens Hemmingsen

    2018-01-01

    Do donors (of samples from which genetic information is derived) have some sort of pre-legal (moral) or legal property right to that information? In this paper, we address this question from both a moral philosophical and a legal point of view. We argue that philosophical theories about property do...... innovation in society. A balancing of interest must take place and we have to make sure that patent protection serves general societal interests and not just those of special interest groups be that inventors or donors....

  4. Clinical, genetic, and neuroimaging features of Early Onset Alzheimer Disease: the challenges of diagnosis and treatment.

    Science.gov (United States)

    Alberici, Antonella; Benussi, Alberto; Premi, Enrico; Borroni, Barbara; Padovani, Alessandro

    2014-01-01

    Early Onset Alzheimer Disease (EOAD) is a rare condition, frequently associated with genetic causes. The dissemination of genetic testing along with biomarker determinations have prompted a wider recognition of EOAD in experienced clinical settings. However, despite the great efforts in establishing the contribution of causative genes to EOAD, atypical disease presentation and clinical features still makes its diagnosis and treatment a challenge for the clinicians. This review aims to provide an extensive evaluation of literature data on EOAD, in order to improve understanding and knowledge of EOAD, underscore its significant impact on patients and their caregivers and influence public policies. This would be crucial to define the urgency of evidence-based treatment approaches.

  5. Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.

    Science.gov (United States)

    Battisti, Carla; Tarugi, Patrizla; Dotti, Maria Teresa; De Stefano, Nicola; Vattimo, Angelo; Chierichetti, Francesea; Calandra, Sebastiano; Federico, Antonio

    2003-11-01

    We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult-onset NPC disease phenotype.

  6. The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) consortium: A collaborative cognitive and neuroimaging genetics project.

    Science.gov (United States)

    Blokland, Gabriëlla A M; Del Re, Elisabetta C; Mesholam-Gately, Raquelle I; Jovicich, Jorge; Trampush, Joey W; Keshavan, Matcheri S; DeLisi, Lynn E; Walters, James T R; Turner, Jessica A; Malhotra, Anil K; Lencz, Todd; Shenton, Martha E; Voineskos, Aristotle N; Rujescu, Dan; Giegling, Ina; Kahn, René S; Roffman, Joshua L; Holt, Daphne J; Ehrlich, Stefan; Kikinis, Zora; Dazzan, Paola; Murray, Robin M; Di Forti, Marta; Lee, Jimmy; Sim, Kang; Lam, Max; Wolthusen, Rick P F; de Zwarte, Sonja M C; Walton, Esther; Cosgrove, Donna; Kelly, Sinead; Maleki, Nasim; Osiecki, Lisa; Picchioni, Marco M; Bramon, Elvira; Russo, Manuela; David, Anthony S; Mondelli, Valeria; Reinders, Antje A T S; Falcone, M Aurora; Hartmann, Annette M; Konte, Bettina; Morris, Derek W; Gill, Michael; Corvin, Aiden P; Cahn, Wiepke; Ho, New Fei; Liu, Jian Jun; Keefe, Richard S E; Gollub, Randy L; Manoach, Dara S; Calhoun, Vince D; Schulz, S Charles; Sponheim, Scott R; Goff, Donald C; Buka, Stephen L; Cherkerzian, Sara; Thermenos, Heidi W; Kubicki, Marek; Nestor, Paul G; Dickie, Erin W; Vassos, Evangelos; Ciufolini, Simone; Reis Marques, Tiago; Crossley, Nicolas A; Purcell, Shaun M; Smoller, Jordan W; van Haren, Neeltje E M; Toulopoulou, Timothea; Donohoe, Gary; Goldstein, Jill M; Seidman, Larry J; McCarley, Robert W; Petryshen, Tracey L

    2018-05-01

    Schizophrenia has a large genetic component, and the pathways from genes to illness manifestation are beginning to be identified. The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) Consortium aims to clarify the role of genetic variation in brain abnormalities underlying schizophrenia. This article describes the GENUS Consortium sample collection. We identified existing samples collected for schizophrenia studies consisting of patients, controls, and/or individuals at familial high-risk (FHR) for schizophrenia. Samples had single nucleotide polymorphism (SNP) array data or genomic DNA, clinical and demographic data, and neuropsychological and/or brain magnetic resonance imaging (MRI) data. Data were subjected to quality control procedures at a central site. Sixteen research groups contributed data from 5199 psychosis patients, 4877 controls, and 725 FHR individuals. All participants have relevant demographic data and all patients have relevant clinical data. The sex ratio is 56.5% male and 43.5% female. Significant differences exist between diagnostic groups for premorbid and current IQ (both pneuropsychological tests are available for 92% of participants, and 30% have structural MRI scans (half also have diffusion-weighted MRI scans). SNP data are available for 76% of participants. The ancestry composition is 70% European, 20% East Asian, 7% African, and 3% other. The Consortium is investigating the genetic contribution to brain phenotypes in a schizophrenia sample collection of >10,000 participants. The breadth of data across clinical, genetic, neuropsychological, and MRI modalities provides an important opportunity for elucidating the genetic basis of neural processes underlying schizophrenia. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Understanding the Pathophysiology of Spinocerebellar Ataxias through genetics, neurophysiology, structural and functional neuroimaging

    Directory of Open Access Journals (Sweden)

    Pramod Kumar Pal

    2015-12-01

    Full Text Available Over the past 10 years a large cohort of 656 index patients with clinically suspected degenerative ataxias were clinically evaluated under various research projects. Of these, 625 index patients underwent genetic tests for the clinically suspected most probable diagnosis. A diagnosis could be achieved in 218 patients (34.9%. Among these 218 index patients, 82 each were SCA1 and SCA2, 32 were SCA3, 4 were SCA12, and 18 were Friedreich's Ataxia. Thus among the Autosomal Dominant Ataxias (SCAs there was equal prevalence of SCA1 and SCA2 (41% each followed by SCA3 (16% and SCA12 (2%. This high prevalence of SCA1 is in contrast to the available National and International literature. The rate of clinical disease progression, especially in SCA2, was dependent on the CAG repeat size, and may commence linearly from birth.Apart from cerebellar involvement, a comprehensive evaluation of the neuroaxis in various subsets of this genetically proved cohort showedsubclinicalinvolvement of the cerebral cortex, central motor and sensory pathways, peripheral nervous system and autonomic nervous system. Important findings include: (aAmixedsensorimotor and pure sensory neuropathy was seen in all the three subtypes of SCAs, while pure motor neuropathy was uncommon; (b There was reduced cortical excitability and prolonged central motor conduction time, most evident in SCA1 and least in SCA2; (c Cardiac autonomic dysfunction, predominantly parasympathetic, was seen in SCA, and the severity correlated with the duration of illness in SCA1; (d In SCA1 there was a global impairment of balance, with greater instability in anterior–posterior than medio–lateral directions; (e In all the three SCAs there was a significant loss of gray matter in both cerebellar hemispheres and vermis. Vermian atrophy was more pronounced in SCA3, while SCA1 and SCA2 had significant white matter atrophy. Pontine white matter atrophy was more pronounced in SCA2; (f Cerebellar activity was

  8. Genetic influence of apolipoprotein E4 genotype on hippocampal morphometry: An N = 725 surface-based Alzheimer's disease neuroimaging initiative study.

    Science.gov (United States)

    Shi, Jie; Leporé, Natasha; Gutman, Boris A; Thompson, Paul M; Baxter, Leslie C; Caselli, Richard J; Wang, Yalin

    2014-08-01

    The apolipoprotein E (APOE) e4 allele is the most prevalent genetic risk factor for Alzheimer's disease (AD). Hippocampal volumes are generally smaller in AD patients carrying the e4 allele compared to e4 noncarriers. Here we examined the effect of APOE e4 on hippocampal morphometry in a large imaging database-the Alzheimer's Disease Neuroimaging Initiative (ADNI). We automatically segmented and constructed hippocampal surfaces from the baseline MR images of 725 subjects with known APOE genotype information including 167 with AD, 354 with mild cognitive impairment (MCI), and 204 normal controls. High-order correspondences between hippocampal surfaces were enforced across subjects with a novel inverse consistent surface fluid registration method. Multivariate statistics consisting of multivariate tensor-based morphometry (mTBM) and radial distance were computed for surface deformation analysis. Using Hotelling's T(2) test, we found significant morphological deformation in APOE e4 carriers relative to noncarriers in the entire cohort as well as in the nondemented (pooled MCI and control) subjects, affecting the left hippocampus more than the right, and this effect was more pronounced in e4 homozygotes than heterozygotes. Our findings are consistent with previous studies that showed e4 carriers exhibit accelerated hippocampal atrophy; we extend these findings to a novel measure of hippocampal morphometry. Hippocampal morphometry has significant potential as an imaging biomarker of early stage AD. Copyright © 2014 Wiley Periodicals, Inc.

  9. Effect of CLU genetic variants on cerebrospinal fluid and neuroimaging markers in healthy, mild cognitive impairment and Alzheimer’s disease cohorts

    OpenAIRE

    Tan, Lin; Wang, Hui-Fu; Tan, Meng-Shan; Tan, Chen-Chen; Zhu, Xi-Chen; Miao, Dan; Yu, Wan-Jiang; Jiang, Teng; Tan, Lan; Yu, Jin-Tai; Weiner, Michael W.; Aisen, Paul; Petersen, Ronald; Jack, Clifford R.; Jagust, William

    2016-01-01

    The Clusterin (CLU) gene, also known as apolipoprotein J (ApoJ), is currently the third most associated late-onset Alzheimer’s disease (LOAD) risk gene. However, little was known about the possible effect of CLU genetic variants on AD pathology in brain. Here, we evaluated the interaction between 7 CLU SNPs (covering 95% of genetic variations) and the role of CLU in β-amyloid (Aβ) deposition, AD-related structure atrophy, abnormal glucose metabolism on neuroimaging and CSF markers to clarify ...

  10. [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.

  11. 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.

  12. 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

  13. 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.

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

    African Journals Online (AJOL)

    salah

    Clinical Genetics Department, Human Genetics & Genome Research Division, ... neuroimaging changes of the brain and EEG abnormalities in correlation to the ... level and by developmental changes2. .... for IQ as a confounding factor.30.

  15. Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

    Science.gov (United States)

    Krishna, Shri H; McKinney, Alexander M; Lucato, Leandro T

    2014-04-01

    Numerous congenital-genetic inborn errors of metabolism (CIEMs) have been identified and characterized in detail within recent decades, with promising therapeutic options. Neuroimaging is becoming increasingly utilized in earlier stages of CIEMs, and even in asymptomatic relatives of patients with a CIEM, so as to monitor disease progress and treatment response. This review attempts to summarize in a concise fashion the neuroimaging findings of various CIEMs that may present in adulthood, as well as those that may persist into adulthood, whether because of beneficial therapy or a delay in diagnosis. Notably, some of these disorders have neuroimaging findings that differ from their classic infantile or early childhood forms, whereas others are identical to their early pediatric forms. The focus of this review is their appearance on routine magnetic resonance imaging sequences, with some basic attention to the findings of such CIEMs on specialized neuroimaging, based on recent or preliminary research. The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and Salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, myoclonic epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and Huntington diseases), and several

  16. Neuroimaging Endophenotypes in Autism Spectrum Disorder

    Science.gov (United States)

    Mahajan, Rajneesh; Mostofsky, Stewart H.

    2015-01-01

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has a strong genetic basis, and is heterogeneous in its etiopathogenesis and clinical presentation. Neuroimaging studies, in concert with neuropathological and clinical research, have been instrumental in delineating trajectories of development in children with ASD. Structural neuroimaging has revealed ASD to be a disorder with general and regional brain enlargement, especially in the frontotemporal cortices, while functional neuroimaging studies have highlighted diminished connectivity, especially between frontal-posterior regions. The diverse and specific neuroimaging findings may represent potential neuroendophenotypes, and may offer opportunities to further understand the etiopathogenesis of ASD, predict treatment response and lead to the development of new therapies. PMID:26234701

  17. Assessing Extinction Risk: Integrating Genetic Information

    Directory of Open Access Journals (Sweden)

    Jason Dunham

    1999-06-01

    Full Text Available Risks of population extinction have been estimated using a variety of methods incorporating information from different spatial and temporal scales. We briefly consider how several broad classes of extinction risk assessments, including population viability analysis, incidence functions, and ranking methods integrate information on different temporal and spatial scales. In many circumstances, data from surveys of neutral genetic variability within, and among, populations can provide information useful for assessing extinction risk. Patterns of genetic variability resulting from past and present ecological and demographic events, can indicate risks of extinction that are otherwise difficult to infer from ecological and demographic analyses alone. We provide examples of how patterns of neutral genetic variability, both within, and among populations, can be used to corroborate and complement extinction risk assessments.

  18. 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.

  19. Neuroimaging findings in movement disorders

    International Nuclear Information System (INIS)

    Topalov, N.

    2015-01-01

    Full text: Neuroimaging methods are of great importance for the differential diagnostic delimitation of movement disorders associated with structural damage (neoplasms, ischemic lesions, neuroinfections) from those associated with specific pathophysiological mechanisms (dysmetabolic disorders, neurotransmitter disorders). Learning objective: Presentation of typical imaging findings contributing to nosological differentiation in groups of movement disorders with similar clinical signs. In this presentation are discussed neuroimaging findings in Parkinson‘s disease, atypical parkinsonian syndromes (multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration), parkinsonism in genetically mediated diseases (Wilson’s disease, pantothenate kinase-associated neurodegeneration – PKAN), vascular parkinsonism, hyperkinetic movement disorders (palatal tremor, Huntington‘s chorea, symptomatic chorea in ischemic stroke and diabetes, rubral tremor, ballismus, hemifacial spasm). Contemporary neuroimaging methods enable support for diagnostic and differential diagnostic precision of a number of hypo- and hyperkinetic movement disorders, which is essential for neurological clinical practice

  20. Consensus paper: combining transcranial stimulation with neuroimaging

    DEFF Research Database (Denmark)

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

    2009-01-01

    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......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...

  1. 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

  2. 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.

  3. 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.

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

    Science.gov (United States)

    Magnusson, Roger S

    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.

  5. Using genetic information while protecting the privacy of the soul.

    Science.gov (United States)

    Moor, J H

    1999-01-01

    Computing plays an important role in genetics (and vice versa). Theoretically, computing provides a conceptual model for the function and malfunction of our genetic machinery. Practically, contemporary computers and robots equipped with advanced algorithms make the revelation of the complete human genome imminent--computers are about to reveal our genetic souls for the first time. Ethically, computers help protect privacy by restricting access in sophisticated ways to genetic information. But the inexorable fact that computers will increasingly collect, analyze, and disseminate abundant amounts of genetic information made available through the genetic revolution, not to mention that inexpensive computing devices will make genetic information gathering easier, underscores the need for strong and immediate privacy legislation.

  6. Three-dimensional neuroimaging

    International Nuclear Information System (INIS)

    Toga, A.W.

    1990-01-01

    This book reports on new neuroimaging technologies that are revolutionizing the study of the brain be enabling investigators to visualize its structure and entire pattern of functional activity in three dimensions. The book provides a theoretical and practical explanation of the new science of creating three-dimensional computer images of the brain. The coverage includes a review of the technology and methodology of neuroimaging, the instrumentation and procedures, issues of quantification, analytic protocols, and descriptions of neuroimaging systems. Examples are given to illustrate the use of three-dimensional enuroimaging to quantitate spatial measurements, perform analysis of autoradiographic and histological studies, and study the relationship between brain structure and function

  7. Why genetic information processing could have a quantum basis

    Indian Academy of Sciences (India)

    Unknown

    Centre for Theoretical Studies and Supercomputer Education and Research Centre, ... the parent to the offspring, sensory information conveyed by the sense organ to the .... The task involved in genetic information processing is. ASSEMBLY.

  8. Fuzzy Information Retrieval Using Genetic Algorithms and Relevance Feedback.

    Science.gov (United States)

    Petry, Frederick E.; And Others

    1993-01-01

    Describes an approach that combines concepts from information retrieval, fuzzy set theory, and genetic programing to improve weighted Boolean query formulation via relevance feedback. Highlights include background on information retrieval systems; genetic algorithms; subproblem formulation; and preliminary results based on a testbed. (Contains 12…

  9. The Genetic Information Nondiscrimination Act (GINA): A Civil Rights Victory

    Science.gov (United States)

    Petruniak, Mark; Krokosky, Alyson; Terry, Sharon F.

    2011-01-01

    This article discusses the Genetic Information Nondiscrimination Act (GINA) which President George W. Bush officially signed in 2008. The law prohibits employers from making adverse employment decisions based on a person's genetic information, including family health history. It also forbids insurance companies from discriminating against…

  10. 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.

  11. Food addiction and neuroimaging.

    Science.gov (United States)

    Zhang, Yi; von Deneen, Karen M; Tian, Jie; Gold, Mark S; Liu, Yijun

    2011-01-01

    Obesity has become a serious epidemic and one of the leading global health problems. However, much of the current debate has been fractious, and etiologies of obesity have been attributed to eating behavior (i.e. fast food consumption), personality, depression, addiction or genetics. One of the interesting new hypotheses for explaining the development of obesity involves a food addiction model, which suggests that food is not eaten as much for survival as pleasure and that hedonic overeating is relevant to both substance-related disorders and eating disorders. Accumulating evidence has shown that there are a number of shared neural and hormonal pathways as well as distinct differences in these pathways that may help researchers discover why certain individuals continue to overeat despite health and other consequences, and becomes more and more obese. Functional neuroimaging studies have further revealed that pleasant smelling, looking, and tasting food has reinforcing characteristics similar to drugs of abuse. Many of the brain changes reported for hedonic eating and obesity are also seen in various types of addictions. Most importantly, overeating and obesity may have an acquired drive similar to drug addiction with respect to motivation and incentive craving. In both cases, the desire and continued satisfaction occur after early and repeated exposure to stimuli. The acquired drive for eating food and relative weakness of the satiety signal would cause an imbalance between the drive and hunger/reward centers in the brain and their regulation. In the current paper, we first provide a summary of literature on food addition from eight different perspectives, and then we proposed a research paradigm that may allow screening of new pharmacological treatment on the basis of functional magnetic resonance imaging (fMRI).

  12. Issues related to the use of genetic material and information.

    Science.gov (United States)

    Giarelli, E; Jacobs, L A

    2000-04-01

    To review issues regarding the use of genetic materials and information. Professional literature, regional and federal legislation. An analysis is provided of the relationship among advances in genetic technology, use of genetic material and information, and the development of laws that protect the interests of donors, researchers, and insurers. Rapid technological achievements have generated complex questions that are difficult to answer. The Human Genome Project began and the scientific discoveries were put to use before adequate professional and public debate on the ethical, legal, social, and clinical issues. The term "proper use" of genetic material and information is not defined consistently. An incomplete patchwork of protective state and federal legislation exists. Many complicated issues surround the use and potential misuse of genetic material and information. Rapidly advancing technology in genetics makes it difficult for regulations that protect individuals and families to keep pace. Oncology nurses need to recognize their role as change agents, understand genetic technology, and advocate for patients by participating in the debate on the proper use and prevention of misuse of genetic material and information.

  13. Human Genetics. Informational and Educational Materials, Vol. I, No. 1.

    Science.gov (United States)

    National Clearinghouse for Human Genetic Diseases (DHEW/PHS), Rockville, MD.

    This catalogue, prepared by the National Clearinghouse for Human Genetic Diseases, provides educational and informational materials on the latest advances in testing, diagnosing, counseling, and treating individuals with a concern for genetic diseases. The materials include books, brochures, pamphlets, journal articles, audio cassettes,…

  14. Transfer of genetic information via isolated mammalian chromosomes

    NARCIS (Netherlands)

    G.J. Wullems

    1976-01-01

    textabstractRecombination of genetic information from different origin has provided insight in many aspects of the genetic mechanisms of the living cell. These aspects concern the location of genes on chromosomes, the regulation of gene expression and the interaction of different genes in the

  15. 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.

  16. 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...

  17. Genetic, epigenetic and exogenetic information in development and evolution.

    Science.gov (United States)

    Griffiths, Paul E

    2017-10-06

    The idea that development is the expression of information accumulated during evolution and that heredity is the transmission of this information is surprisingly hard to cash out in strict, scientific terms. This paper seeks to do so using the sense of information introduced by Francis Crick in his sequence hypothesis and central dogma of molecular biology. It focuses on Crick's idea of precise determination. This is analysed using an information-theoretic measure of causal specificity. This allows us to reconstruct some of Crick's claims about information in transcription and translation. Crick's approach to information has natural extensions to non-coding regions of DNA, to epigenetic marks, and to the genetic or environmental upstream causes of those epigenetic marks. Epigenetic information cannot be reduced to genetic information. The existence of biological information in epigenetic and exogenetic factors is relevant to evolution as well as to development.

  18. Supply of genetic information--amount, format, and frequency.

    Science.gov (United States)

    Misztal, I; Lawlor, T J

    1999-05-01

    The volume and complexity of genetic information is increasing because of new traits and better models. New traits may include reproduction, health, and carcass. More comprehensive models include the test day model in dairy cattle or a growth model in beef cattle. More complex models, which may include nonadditive effects such as inbreeding and dominance, also provide additional information. The amount of information per animal may increase drastically if DNA marker typing becomes routine and quantitative trait loci information is utilized. In many industries, evaluations are run more frequently. They result in faster genetic progress and improved management and marketing opportunities but also in extra costs and information overload. Adopting new technology and making some organizational changes can help realize all the added benefits of the improvements to the genetic evaluation systems at an acceptable cost. Continuous genetic evaluation, in which new records are accepted and breeding values are updated continuously, will relieve time pressures. An online mating system with access to both genetic and marketing information can result in mating recommendations customized for each user. Such a system could utilize inbreeding and dominance information that cannot efficiently be accommodated in the current sire summaries or off-line mating programs. The new systems will require a new organizational approach in which the task of scientists and technicians will not be simply running the evaluations but also providing the research, design, supervision, and maintenance required in the entire system of evaluation, decision making, and distribution.

  19. 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.)

  20. Introduction to neuroimaging

    International Nuclear Information System (INIS)

    Orrison, W.W.

    1989-01-01

    The author focuses on neuroradiology with emphasis on the current imaging modalities. There are chapters on angiography, myelography, nuclear medicine, ultrasonography, computer tomography (CT), and magnetic resonance (MR) imaging. The other chapters are dedicated to the spine, skull, head and neck, and pediatric neuroimaging

  1. Reassessing insurers' access to genetic information: genetic privacy, ignorance, and injustice.

    Science.gov (United States)

    Feiring, Eli

    2009-06-01

    Many countries have imposed strict regulations on the genetic information to which insurers have access. Commentators have warned against the emerging body of legislation for different reasons. This paper demonstrates that, when confronted with the argument that genetic information should be available to insurers for health insurance underwriting purposes, one should avoid appeals to rights of genetic privacy and genetic ignorance. The principle of equality of opportunity may nevertheless warrant restrictions. A choice-based account of this principle implies that it is unfair to hold people responsible for the consequences of the genetic lottery, since we have no choice in selecting our genotype or the expression of it. However appealing, this view does not take us all the way to an adequate justification of inaccessibility of genetic information. A contractarian account, suggesting that health is a condition of opportunity and that healthcare is an essential good, seems more promising. I conclude that if or when predictive medical tests (such as genetic tests) are developed with significant actuarial value, individuals have less reason to accept as fair institutions that limit access to healthcare on the grounds of risk status. Given the assumption that a division of risk pools in accordance with a rough estimate of people's level of (genetic) risk will occur, fairness and justice favour universal health insurance based on solidarity.

  2. Communication of genetic information to families with inherited rhythm disorders.

    Science.gov (United States)

    Burns, Charlotte; James, Cynthia; Ingles, Jodie

    2017-11-23

    Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of family management. Communication of genetic information is complex, and the responsibility to convey this information to the family lies with the proband. Current practice falls short, requiring additional support from the clinician and multidisciplinary team. Communication is a 2-part iterative process, reliant on both the understanding of the probands and their ability to effectively communicate with relatives. With the surge of high-throughput genetic testing, results generated are increasingly complex, making the task of communication more challenging. Here we discuss 3 key issues. First, the probabilistic nature of genetic test results means uncertainty is inherent to the practice. Second, secondary findings may arise. Third, personal preferences, values, and family dynamics also come into play and must be acknowledged when considering how best to support effective communication. Here we provide insight into the challenges and provide practical advice for clinicians to support effective family communication. These strategies include acknowledging and managing genetic uncertainty, genetic counseling and informed consent, and consideration of personal and familial barriers to effective communication. We will explore the potential for developing resources to assist clinicians in providing patients with sufficient knowledge and support to communicate complex information to their at-risk relatives. Specialized multidisciplinary clinics remain the best equipped to manage patients and families with inherited heart rhythm disorders given the need for a high level of information and support. Copyright © 2017 Heart Rhythm Society. All rights reserved.

  3. Big Data and Neuroimaging.

    Science.gov (United States)

    Webb-Vargas, Yenny; Chen, Shaojie; Fisher, Aaron; Mejia, Amanda; Xu, Yuting; Crainiceanu, Ciprian; Caffo, Brian; Lindquist, Martin A

    2017-12-01

    Big Data are of increasing importance in a variety of areas, especially in the biosciences. There is an emerging critical need for Big Data tools and methods, because of the potential impact of advancements in these areas. Importantly, statisticians and statistical thinking have a major role to play in creating meaningful progress in this arena. We would like to emphasize this point in this special issue, as it highlights both the dramatic need for statistical input for Big Data analysis and for a greater number of statisticians working on Big Data problems. We use the field of statistical neuroimaging to demonstrate these points. As such, this paper covers several applications and novel methodological developments of Big Data tools applied to neuroimaging data.

  4. 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

  5. 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

  6. 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

  7. Neuroimaging of consciousness

    International Nuclear Information System (INIS)

    Cavanna, Andrea Eugenio; UCL Institute of Neurology, London; Nani, Andrea; Blumenfeld, Hal; Laureys, Steven

    2013-01-01

    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. Human genome and genetic sequencing research and informed consent

    International Nuclear Information System (INIS)

    Iwakawa, Mayumi

    2003-01-01

    On March 29, 2001, the Ethical Guidelines for Human Genome and Genetic Sequencing Research were established. They have intended to serve as ethical guidelines for all human genome and genetic sequencing research practice, for the purpose of upholding respect for human dignity and rights and enforcing use of proper methods in the pursuit of human genome and genetic sequencing research, with the understanding and cooperation of the public. The RadGenomics Project has prepared a research protocol and informed consent document that follow these ethical guidelines. We have endeavored to protect the privacy of individual information, and have established a procedure for examination of research practices by an ethics committee. Here we report our procedure in order to offer this concept to the patients. (authors)

  9. 45 CFR 146.122 - Additional requirements prohibiting discrimination based on genetic information.

    Science.gov (United States)

    2010-10-01

    ... genetic information and should review the records to excise any genetic information. N assembles the data requested by M and, although N reviews it to delete genetic information, the data from a specific region... based on genetic information. 146.122 Section 146.122 Public Welfare DEPARTMENT OF HEALTH AND HUMAN...

  10. 29 CFR 2590.702-1 - Additional requirements prohibiting discrimination based on genetic information.

    Science.gov (United States)

    2010-07-01

    ... genetic information and should review the records to excise any genetic information. N assembles the data requested by M and, although N reviews it to delete genetic information, the data from a specific region... genetic information. 2590.702-1 Section 2590.702-1 Labor Regulations Relating to Labor (Continued...

  11. Crossover Improvement for the Genetic Algorithm in Information Retrieval.

    Science.gov (United States)

    Vrajitoru, Dana

    1998-01-01

    In information retrieval (IR), the aim of genetic algorithms (GA) is to help a system to find, in a huge documents collection, a good reply to a query expressed by the user. Analysis of phenomena seen during the implementation of a GA for IR has led to a new crossover operation, which is introduced and compared to other learning methods.…

  12. Information transmission in genetic regulatory networks: a review

    International Nuclear Information System (INIS)

    Tkacik, Gasper; Walczak, Aleksandra M

    2011-01-01

    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'. (topical review)

  13. 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

    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

  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, D; Mennes, M.; van Ewijk, H.; Groenman, A.P.; Zwiers, M.P.; Oosterlaan, J.; Heslenfeld, D.J.; Franke, B.; Hoekstra, P.J.; Faraone, S.V.; Hartman, C.A.; Buitelaar, J.K.

    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

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

    NARCIS (Netherlands)

    Rhein, D.T. von; Mennes, M.; Ewijk, H. van; Groenman, A.P.; Zwiers, M.P.; Oosterlaan, J.; Heslenfeld, D.; Franke, B.; Hoekstra, P.J.; Faraone, S.V; Hartman, C.; Buitelaar, J.K.

    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

  16. Neuroimaging, nuclear medicine

    International Nuclear Information System (INIS)

    Kato, Takashi; Ito, Kengo; Arahata, Yutaka

    2007-01-01

    This chapter describes radionuclide imaging as it related to neurodegenerative dementias like Alzheimer's disease (AD), idiopathic Parkinson's disease (PD), and normal aging, among the various diseases of the elderly. The role of neuroimaging with nuclear medicine is to detect changes in neural activities that are caused by these diseases. Such changes may be indirect phenomena, but the imaging of neural functions provides physicians with useful, objective information regarding pathophysiology in the brain. Brain activities change with age, with the elderly showing decreased brain function in memory, execution, and attention. Age-dependent reduction in the global mean of cerebral blood flow (CBF) has been reported in many studies that have used X-133 and O-15 labeled gas, the spatial resolution of which is low. Partial volume correction (PVC) is available through the segmentation of grey matter from high-resolution T1-weighted magnetic resonance imaging. Meltzer reported that age-related change disappeared after PVC. The relative distribution of CBF and glucose metabolism has been examined on a voxel-by-voxel basis in many studies. The areas negatively correlated with age are the anterior part of the brain, especially the dorsolateral and medial frontal areas, anterior cingulate cortices, frontolateral and perisylvian cortices, and basal ganglia. The areas positively correlated with age are the occipital lobe, temporal lobe, sensorimotor cortex, and primary visual cortex. It is not easy to define ''normal aging''. Aged people tend to have the potential for diseases like cerebral ischemia caused by arteriosclerosis. Ischemia results in volume loss of the gray matter and CBF. The ApoE e4 gene is a risk factor for AD, and carriers of the ApoE e4 allel show CBF-like AD even at a relatively young age. Hypo-glucose metabolism in the posterior cingulate cortex is seen in 5% of normal people over 50 years of age. This Alzheimer-like CBF/metabolic pattern needs further

  17. Functional Neuroimaging in Psychopathy.

    Science.gov (United States)

    Del Casale, Antonio; Kotzalidis, Georgios D; Rapinesi, Chiara; Di Pietro, Simone; Alessi, Maria Chiara; Di Cesare, Gianluigi; Criscuolo, Silvia; De Rossi, Pietro; Tatarelli, Roberto; Girardi, Paolo; Ferracuti, Stefano

    2015-01-01

    Psychopathy is associated with cognitive and affective deficits causing disruptive, harmful and selfish behaviour. These have considerable societal costs due to recurrent crime and property damage. A better understanding of the neurobiological bases of psychopathy could improve therapeutic interventions, reducing the related social costs. To analyse the major functional neural correlates of psychopathy, we reviewed functional neuroimaging studies conducted on persons with this condition. We searched the PubMed database for papers dealing with functional neuroimaging and psychopathy, with a specific focus on how neural functional changes may correlate with task performances and human behaviour. Psychopathy-related behavioural disorders consistently correlated with dysfunctions in brain areas of the orbitofrontal-limbic (emotional processing and somatic reaction to emotions; behavioural planning and responsibility taking), anterior cingulate-orbitofrontal (correct assignment of emotional valence to social stimuli; violent/aggressive behaviour and challenging attitude) and prefrontal-temporal-limbic (emotional stimuli processing/response) networks. Dysfunctional areas more consistently included the inferior frontal, orbitofrontal, dorsolateral prefrontal, ventromedial prefrontal, temporal (mainly the superior temporal sulcus) and cingulated cortices, the insula, amygdala, ventral striatum and other basal ganglia. Emotional processing and learning, and several social and affective decision-making functions are impaired in psychopathy, which correlates with specific changes in neural functions. © 2015 S. Karger AG, Basel.

  18. Neuroimaging of Alzheimer's disease

    International Nuclear Information System (INIS)

    Matsuda, Hiroshi

    2005-01-01

    Main purposes of neuroimaging in Alzheimer's disease have been moved from diagnosis of advanced Alzheimer's disease to diagnosis of very early Alzheimer's disease at a prodromal stage of mild cognitive impairment, prediction of conversion from mild cognitive impairment to Alzheimer's disease, and differential diagnosis from other diseases causing dementia. Structural MRI studies and functional studies using fluorodeoxyglucose (FDG)-PET and brain perfusion SPECT are widely used in diagnosis of Alzheimer's disease. Outstanding progress in diagnostic accuracy of these neuroimaging modalities has been obtained using statistical analysis on a voxel-by-voxel basis after spatial normalization of individual scans to a standardized brain-volume template instead of visual inspection or a conventional region of interest technique. In a very early stage of Alzheimer's disease, this statistical approach revealed gray matter loss in the entorhinal and hippocampal areas and hypometabolism or hypoperfusion in the posterior cingulate cortex. These two findings might be related in view of anatomical knowledge that the regions are linked through the circuit of Papez. This statistical approach also offers accurate evaluation of therapeutical effects on brain metabolism or perfusion. The latest development in functional imaging relates to the final pathological hallmark of Alzheimer's disease-amyloid plaques. Amyloid imaging might be an important surrogate marker for trials of disease-modifying agents. (author)

  19. Friendship Experiences and Anxiety Among Children: A Genetically Informed Study.

    Science.gov (United States)

    Poirier, Catherine Serra; Brendgen, Mara; Girard, Alain; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2016-01-01

    This study examined (a) whether, in line with a gene-environment correlation (rGE), a genetic disposition for anxiety puts children at risk of having anxious friends or having no reciprocal friends; (b) to what extent these friendship experiences are related to anxiety symptoms, when controlling for sex and genetic disposition for this trait; and (c) the additive and interactive predictive links of the reciprocal best friend's anxiety symptoms and of friendship quality with children's anxiety symptoms. Using a genetically informed design based on 521 monozygotic and ic twins (264 girls; 87% of European descent) assessed in Grade 4 (M age = 10.04 years, SD = .26), anxiety symptoms and perceived friendship quality were measured with self-report questionnaires. Results indicated that, in line with rGE, children with a strong genetic disposition for anxiety were more likely to have anxious friends than nonanxious friends. Moreover, controlling for their genetic risk for anxiety, children with anxious friends showed higher levels of anxiety symptoms than children with nonanxious friends but did not differ from those without reciprocal friends. Additional analyses suggested a possible contagion of anxiety symptoms between reciprocal best friends when perceived negative features of friendship were high. These results underline the importance of teaching strategies such as problem solving that enhance friendship quality to limit the potential social contagion of anxiety symptoms.

  20. Developmental cognitive genetics: How psychology can inform genetics and vice versa

    Science.gov (United States)

    Bishop, Dorothy V. M.

    2006-01-01

    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. PMID:16769616

  1. Sequencing Genetics Information: Integrating Data into Information Literacy for Undergraduate Biology Students

    Science.gov (United States)

    MacMillan, Don

    2010-01-01

    This case study describes an information literacy lab for an undergraduate biology course that leads students through a range of resources to discover aspects of genetic information. The lab provides over 560 students per semester with the opportunity for hands-on exploration of resources in steps that simulate the pathways of higher-level…

  2. Neuroimaging in Antisocial Personality Disorder

    Directory of Open Access Journals (Sweden)

    Abdullah Yildirim

    2015-03-01

    Full Text Available Neuroimaging has been used in antisocial personality disorder since the invention of computed tomography and new modalities are introduced as technology advances. Magnetic resonance imaging, diffusion tensor imaging, functional magnetic resonance imaging and radionuclide imaging are such techniques that are currently used in neuroimaging. Although neuroimaging is an indispensible tool for psychiatric reseach, its clinical utility is questionable until new modalities become more accessible and regularly used in clinical practice. The aim of this paper is to provide clinicians with an introductory knowledge on neuroimaging in antisocial personality disorder including basic physics principles, current contributions to general understanding of pathophysiology in antisocial personality disorder and possible future applications of neuroimaging. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2015; 7(1: 98-108

  3. 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.)

  4. Neuroimaging of autism

    International Nuclear Information System (INIS)

    Verhoeven, Judith S.; Cock, Paul de; Lagae, Lieven; Sunaert, Stefan

    2010-01-01

    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.)

  5. Neuroimaging of neurotic disorders

    International Nuclear Information System (INIS)

    Okubo, Yoshiro; Yahata, Noriaki

    2006-01-01

    Neuroimaging has been involved in recent biological approaches with evidence for neurotic disorders in place of diagnostic criteria on Freud theory hitherto. This review describes the present states of brain imaging in those disorders. Emotion has such three bases for environmental stimuli as recognition/evaluation of causable factors, manifestation, and its control, each of which occurs in various different regions connected by neuro-net work in the brain. The disorders are regarded as abnormality of the circuit that can be imaged. Documented and discussed are the actual regions imaged by MRI and PET in panic disorder, social phobia, phobias to specified things, posttraumatic stress disorder and obsessive-compulsive disorder. The approach is thought important for elucidating not only the pathogenesis of the disorders but also the human emotional functions and mechanism of the mind, which may lead to a better treatment of the disorders in future. (T.I)

  6. Neuroimaging and electroconvulsive therapy

    DEFF Research Database (Denmark)

    Bolwig, Tom G

    2014-01-01

    BACKGROUND: Since the 1970s, a number of neuroimaging studies of electroconvulsive therapy (ECT) have been conducted to elucidate the working action of this highly efficacious treatment modality. The technologies used are single photon emission tomography, positron emission tomography, magnetic...... in localized cortical and subcortical areas of the brain and have revealed differences in neurophysiology and metabolism between the hyperactive ictal state and the restorative interictal/postictal periods. Recent magnetic resonance imaging studies seem to pave way for new insights into ECT's effects...... on increased connectivity in the brain during depression. CONCLUSION: The existing data reveal considerable variations among studies and therefore do not yet allow the formulation of a unified hypothesis for the mechanism of ECT. The rapid developments in imaging technology, however, hold promises for further...

  7. Negligence and the communication of neonatal genetic information to parents.

    Science.gov (United States)

    Fay, Michael

    2012-01-01

    It is inevitable that neonatal genetic information will be communicated to parents and a potential for psychiatric injury exists where the communication is negligent. An important question in this regard is whether a health-care provider may owe a duty of care to parents when communicating accurate genetic information, or whether the courts might treat it as merely the receipt of distressing news, which hitherto attracts no liability in English Tort Law. The important role of genetic counselling in this context will likely be determinative in deciding whether communicating accurate genetic information is actionable because it arguably distinguishes the parent-physician relationship from that of messenger-recipient. If communication is accepted as being something more than the receipt of distressing news and is capable of causing 'shock', then parents will need to establish themselves as either primary or secondary victims if claims are to be reconciled with the Alcock paradigm. Claims by parents as secondary victims will be unlikely to succeed because the neonate does not fulfil the role of primary victim, although parents may be owed a duty as elevated primary victims as a result of the lack of an immediate victim. Elevating claimants to primary victim status is not without criticism and may serve to further complicate a difficult area of tort law. Alternatively, it may be open to parents to demonstrate that a duty exists subsequent to an assumption of responsibility, as the provision of genetic counselling during and after neonatal screening is indicative of health-care providers assuming responsibility for the parents' mental health. If parents are able to establish that a duty of care exists, then success of their claims will be determined by reference to breach and causation. The potential difficulties and solutions, particularly with regard to causation, are also briefly considered. It is suggested that breach will likely be determined by reference to a

  8. Privacy, the individual and genetic information: a Buddhist perspective.

    Science.gov (United States)

    Hongladarom, Soraj

    2009-09-01

    Bioinformatics is a new field of study whose ethical implications involve a combination of bioethics, computer ethics and information ethics. This paper is an attempt to view some of these implications from the perspective of Buddhism. Privacy is a central concern in both computer/information ethics and bioethics, and with information technology being increasingly utilized to process biological and genetic data, the issue has become even more pronounced. Traditionally, privacy presupposes the individual self but as Buddhism does away with the ultimate conception of an individual self, it has to find a way to analyse and justify privacy that does not presuppose such a self. It does this through a pragmatic conception that does not depend on a positing of the substantial self, which is then found to be unnecessary for an effective protection of privacy. As it may be possible one day to link genetic data to individuals, the Buddhist conception perhaps offers a more flexible approach, as what is considered to be integral to an individual person is not fixed in objectivity but depends on convention.

  9. 26 CFR 54.9802-3T - Additional requirements prohibiting discrimination based on genetic information (temporary).

    Science.gov (United States)

    2010-04-01

    ... assembles the data requested by M and, although N reviews it to delete genetic information, the data from a... discrimination based on genetic information (temporary). 54.9802-3T Section 54.9802-3T Internal Revenue INTERNAL... EXCISE TAXES § 54.9802-3T Additional requirements prohibiting discrimination based on genetic information...

  10. What do people with dementia and their carers want to know about neuroimaging for dementia?

    Science.gov (United States)

    Featherstone, Hannah; Butler, Marie-Louise; Ciblis, Aurelia; Bokde, Arun L; Mullins, Paul G; McNulty, Jonathan P

    2017-05-01

    Neuroimaging forms an important part of dementia diagnosis. Provision of information on neuroimaging to people with dementia and their carers may aid understanding of the pathological, physiological and psychosocial changes of the disease, and increase understanding of symptoms. This qualitative study aimed to investigate participants' knowledge of the dementia diagnosis pathway, their understanding of neuroimaging and its use in diagnosis, and to determine content requirements for a website providing neuroimaging information. Structured interviews and a focus group were conducted with carers and people with dementia. The findings demonstrate an unmet need for information on neuroimaging both before and after the examination. Carers were keen to know about neuroimaging at a practical and technical level to help avoid diagnosis denial. People with dementia requested greater information, but with a caveat to avoid overwhelming detail, and were less likely to favour an Internet resource.

  11. EEG changes and neuroimaging abnormalities in relevance to ...

    African Journals Online (AJOL)

    Background: Autism is currently viewed as a genetically determined neurodevelopmental disorder although its defi nite underlying etiology remains to be established. Aim of the Study: Our purpose was to assess autism related morphological neuroimaging changes of the brain and EEG abnormalities in correlation to the ...

  12. 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.)

  13. Neuroimaging in psychiatric pharmacogenetics research: the promise and pitfalls.

    Science.gov (United States)

    Falcone, Mary; Smith, Ryan M; Chenoweth, Meghan J; Bhattacharjee, Abesh Kumar; Kelsoe, John R; Tyndale, Rachel F; Lerman, Caryn

    2013-11-01

    The integration of research on neuroimaging and pharmacogenetics holds promise for improving treatment for neuropsychiatric conditions. Neuroimaging may provide a more sensitive early measure of treatment response in genetically defined patient groups, and could facilitate development of novel therapies based on an improved understanding of pathogenic mechanisms underlying pharmacogenetic associations. This review summarizes progress in efforts to incorporate neuroimaging into genetics and treatment research on major psychiatric disorders, such as schizophrenia, major depressive disorder, bipolar disorder, attention-deficit/hyperactivity disorder, and addiction. Methodological challenges include: performing genetic analyses in small study populations used in imaging studies; inclusion of patients with psychiatric comorbidities; and the extensive variability across studies in neuroimaging protocols, neurobehavioral task probes, and analytic strategies. Moreover, few studies use pharmacogenetic designs that permit testing of genotype × drug effects. As a result of these limitations, few findings have been fully replicated. Future studies that pre-screen participants for genetic variants selected a priori based on drug metabolism and targets have the greatest potential to advance the science and practice of psychiatric treatment.

  14. Artificially Expanded Genetic Information Systems for New Aptamer Technologies

    Directory of Open Access Journals (Sweden)

    Elisa Biondi

    2018-05-01

    Full Text Available Directed evolution was first applied to diverse libraries of DNA and RNA molecules a quarter century ago in the hope of gaining technology that would allow the creation of receptors, ligands, and catalysts on demand. Despite isolated successes, the outputs of this technology have been somewhat disappointing, perhaps because the four building blocks of standard DNA and RNA have too little functionality to have versatile binding properties, and offer too little information density to fold unambiguously. This review covers the recent literature that seeks to create an improved platform to support laboratory Darwinism, one based on an artificially expanded genetic information system (AEGIS that adds independently replicating nucleotide “letters” to the evolving “alphabet”.

  15. 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.

  16. 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.

  17. Genetic screening, health care and the insurance industry. Should genetic information be made available to insurers?

    Science.gov (United States)

    Ossa, Diego F; Towse, Adrian

    2004-06-01

    The potential use of genetic tests in insurance has raised concerns about discrimination and individuals losing access to health care either because of refusals to test for treatable diseases, or because test-positives cannot afford premiums. Governments have so far largely sought to restrict the use of genetic information by insurance companies. To date the number of tests available with significant actuarial value is limited. However, this is likely to change, raising more clearly the question as to whether the social costs of adverse selection outweigh the social costs of individuals not accessing health care for fear of the consequences of test information being used in insurance markets. In this contribution we set out the policy context and model the potential trade-offs between the losses faced by insurers from adverse selection by insurees (which will increase premiums reducing consumer welfare) and the detrimental health effects that may result from persons refusing to undergo tests that could identify treatable health conditions. It argues that the optimal public policy on genetic testing should reflect overall societal benefit, taking account of these trade-offs. Based on our model, the factors that influence the outcome include: the size of and value attached to the health gains from treatment; deterrent effects of a disclosure requirement on testing for health reasons; incidence of the disease; propensity of test-positives to adverse select; policy value adverse selectors buy in a non-disclosure environment; and price elasticity of demand for insurance. Our illustrative model can be used as a benchmark for developing other scenarios or incorporating real data in order to address the impact of different policies on disclosure and requirement to test.

  18. 45 CFR 148.180 - Prohibition of discrimination based on genetic information.

    Science.gov (United States)

    2010-10-01

    ... records to excise any genetic information. T assembles the data requested by S and, although T reviews it to delete genetic information, the data from a specific region included some individuals' family... 45 Public Welfare 1 2010-10-01 2010-10-01 false Prohibition of discrimination based on genetic...

  19. 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

  20. Genetic information: Special or not? Responses from focus groups with members of a health maintenance organization.

    Science.gov (United States)

    Diergaarde, Brenda; Bowen, Deborah J; Ludman, Evette J; Culver, Julie O; Press, Nancy; Burke, Wylie

    2007-03-15

    Genetic information is used increasingly in health care. Some experts have argued that genetic information is qualitatively different from other medical information and, therefore, raises unique social issues. This view, called "genetic exceptionalism," has importantly influenced recent policy efforts. Others have argued that genetic information is like other medical information and that treating it differently may actually result in unintended disparities. Little is known about how the general public views genetic information. To identify opinions about implications of genetic and other medical information among the general population, we conducted a series of focus groups in Seattle, WA. Participants were women and men between ages 18 and 74, living within 30 miles of Seattle and members of the Group Health Cooperative. A structured discussion guide was used to ensure coverage of all predetermined topics. Sessions lasted approximately 2 hr; were audio taped and transcribed. The transcripts formed the basis of the current analysis. Key findings included the theme that genetic information was much like other medical information and that all sensitive medical information should be well protected. Personal choice (i.e., the right to choose whether to know health risk information and to control who else knows) was reported to be of crucial importance. Participants had an understanding of the tensions involved in protecting privacy versus sharing medical information to help another person. These data may guide future research and policy concerning the use and protection of medical information, including genetic information. (c) 2007 Wiley-Liss, Inc.

  1. 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. © 2015 American Society for Nutrition.

  2. 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.

  3. 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 ea...

  4. Privacy of genetic information: a review of the laws in the United States.

    Science.gov (United States)

    Fuller, B; Ip, M

    2001-01-01

    This paper examines the privacy of genetic information and the laws in the United States designed to protect genetic privacy. While all 50 states have laws protecting the privacy of health information, there are many states that have additional laws that carve out additional protections specifically for genetic information. The majority of the individual states have enacted legislation to protect individuals from discrimination on the basis of genetic information, and most of this legislation also has provisions to protect the privacy of genetic information. On the Federal level, there has been no antidiscrimination or genetic privacy legislation. Secretary Donna Shalala of the Department of Health and Human Services has issued proposed regulations to protect the privacy of individually identifiable health information. These regulations encompass individually identifiable health information and do not make specific provisions for genetic information. The variety of laws regarding genetic privacy, some found in statutes to protect health information and some found in statutes to prevent genetic discrimination, presents challenges to those charged with administering and executing these laws.

  5. 76 FR 72424 - Submission for OMB Review; Comment Request Information Program on the Genetic Testing Registry

    Science.gov (United States)

    2011-11-23

    ... particular tests; and (3) facilitating genetic and genomic data-sharing for research and new scientific...; Comment Request Information Program on the Genetic Testing Registry AGENCY: National Institutes of Health... currently valid OMB control number. Proposed Collection: Title: The Genetic Testing Registry; Type of...

  6. 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.

  7. Genetics of Post-Traumatic Stress Disorder: Informing Clinical Conceptualizations and Promoting Future Research

    Science.gov (United States)

    Nugent, Nicole R.; Amstadter, Ananda B.; Koenen, Karestan C.

    2009-01-01

    The purpose of this article is to provide an overview of genetic research involving post-traumatic stress disorder (PTSD). First, we summarize evidence for genetic influences on PTSD from family investigations. Second, we discuss the distinct contributions to our understanding of the genetics of PTSD permitted by twin studies. Finally, we summarize findings from molecular genetic studies, which have the potential to inform our understanding of underlying biological mechanisms for the development of PTSD. PMID:18412098

  8. 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.

  9. 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.

  10. 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.

  11. The Co-evolution of Neuroimaging and Psychiatric Neurosurgery.

    Science.gov (United States)

    Dyster, Timothy G; Mikell, Charles B; Sheth, Sameer A

    2016-01-01

    The role of neuroimaging in psychiatric neurosurgery has evolved significantly throughout the field's history. Psychiatric neurosurgery initially developed without the benefit of information provided by modern imaging modalities, and thus lesion targets were selected based on contemporary theories of frontal lobe dysfunction in psychiatric disease. However, by the end of the 20th century, the availability of structural and functional magnetic resonance imaging (fMRI) allowed for the development of mechanistic theories attempting to explain the anatamofunctional basis of these disorders, as well as the efficacy of stereotactic neuromodulatory treatments. Neuroimaging now plays a central and ever-expanding role in the neurosurgical management of psychiatric disorders, by influencing the determination of surgical candidates, allowing individualized surgical targeting and planning, and identifying network-level changes in the brain following surgery. In this review, we aim to describe the coevolution of psychiatric neurosurgery and neuroimaging, including ways in which neuroimaging has proved useful in elucidating the therapeutic mechanisms of neuromodulatory procedures. We focus on ablative over stimulation-based procedures given their historical precedence and the greater opportunity they afford for post-operative re-imaging, but also discuss important contributions from the deep brain stimulation (DBS) literature. We conclude with a discussion of how neuroimaging will transition the field of psychiatric neurosurgery into the era of precision medicine.

  12. The consumer and the right to information against the uncertainties surrounding genetically modified foods

    Directory of Open Access Journals (Sweden)

    Luana Michelle da Silva Godoy

    2012-04-01

    Full Text Available Verifies the need for consumer information on the divergênciascientíficas regarding the risks of genetically modified foods . Concludes access to information is inherent in the exercise of the right of choice doconsumidor front of genetically modified foods , as the same were entered the market without the existence of scientific consensus related to risk.

  13. Genetic and bibliographic information: EYA1 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available EYA1 eyes absent homolog 1 (Drosophila) human Branchio-Otic Syndrome; Branchio-Oto-...90) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases, Inborn (C16.32

  14. Facilitating Breast Cancer Genetic Counseling Through Information, Preparation and Referral: A Pilot Program Using the Cancer Information Service

    National Research Council Canada - National Science Library

    Miller, Suzanne

    2001-01-01

    Previous research has shown that women often lack knowledge regarding the kinds of information that are required to determine inherited risk as well as on the process and content of risk assessment/genetic testing...

  15. Facilitating Breast Cancer Genetic Couseling through Information, Preparation and Referral: A Pilot Program Using the Cancer Information Service

    National Research Council Canada - National Science Library

    Miller, Suzanne

    2000-01-01

    Previous research has shown that women often lack knowledge regarding the kinds of information that are required to determine inherited risk as well as on the process and content of risk assessment/genetic testing...

  16. Facilitating Breast Cancer Genetic Counseling Through Information, Preparation and Referral: A Pilot Study Using the Cancer Information Service

    National Research Council Canada - National Science Library

    Miller, Suzanne

    2002-01-01

    Previous research shows that women often lack knowledge regarding the kinds of information required to determine inherited risk as well as on the process and content of risk assessment/genetic testing...

  17. 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.)…

  18. 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

  19. Direct-to-Consumer Genetic Testing: Helping Patients Make Informed Choices
.

    Science.gov (United States)

    Mahon, Suzanne M

    2018-02-01

    Using direct-to-consumer genetic testing (DTCGT), individuals can order a genetic test, collect and submit a saliva sample, and obtain results about their genetic risk for a variety of traits and health conditions without involving a healthcare provider. Potential benefits of DTCGT include personal control over genetic information and health management decisions, whereas potential risks include misinterpretation of results, psychosocial distress, and lack of informed consent. Oncology nurses can provide education, support, and advocacy to enable patients to truly understand the positives and negatives associated with DTCGT.
.

  20. 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.

  1. Ethical issues in the use of genetic information in the workplace: a review of recent developments.

    Science.gov (United States)

    Geppert, Cynthia M A; Roberts, Laura Weiss

    2005-09-01

    In the wake of the Human Genome Project, the pace of genetic discovery has quickened. New genetic tests and other molecular technology have had immediate and wide relevance to American and European workers. These tests have the potential to provide improved workplace safety and protect workers' health, but they also carry the risk of genetic discrimination including loss of employment, promotion, insurance and health care. Ethical safeguards are necessary if the benefits are to outweigh the adverse consequences of genetics in the workplace. This review examines the major policy statements issued in Europe and the USA from 2000 to 2005 pertaining to genetic issues in occupational health. Recent findings stress that genetic testing can only be utilized with worker consent and that the workers should control access to genetic information. Such testing is only justified when the information is required to protect the safety of the worker or a third party. The progress of occupational genetic technology should not be permitted to shift the responsibility for a safe working environment from the employer to the employee. Genetic discrimination in all forms is neither supported scientifically nor warranted ethically. Increasingly, occupational physicians and clinicians treating workers will be faced with potentially stigmatizing genetic information and there is an urgent need for education and research to expand and implement the recommendations of major governmental and professional policy statements.

  2. 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.)

  3. Neuroimaging features of Cornelia de Lange syndrome

    International Nuclear Information System (INIS)

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

    2015-01-01

    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. (orig.)

  4. Using genomic information to conserve genetic diversity in livestock

    NARCIS (Netherlands)

    Eynard, Sonia E.

    2018-01-01

    Concern about the status of livestock breeds and their conservation has increased as selection and small population sizes caused loss of genetic diversity. Meanwhile, dense SNP chips and whole genome sequences (WGS) became available, providing opportunities to accurately quantify the impact of

  5. Drug Repositioning in Inflammatory Bowel Disease Based on Genetic Information

    NARCIS (Netherlands)

    Collij, Valerie; Festen, Eleonora A. M.; Alberts, Rudi; Weersma, Rinse K.

    2016-01-01

    Background:Currently, 200 genetic risk loci have been identified for inflammatory bowel disease (IBD). Although these findings have significantly advanced our insight into IBD biology, there has been little progress in translating this knowledge toward clinical practice, like more cost-efficient

  6. 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.

  7. Disclosing Genetic Risk for Coronary Heart Disease: Attitudes Toward Personal Information in Health Records.

    Science.gov (United States)

    Brown, Sherry-Ann; Jouni, Hayan; Marroush, Tariq S; Kullo, Iftikhar J

    2017-04-01

    Incorporating genetic risk information in electronic health records (EHRs) will facilitate implementation of genomic medicine in clinical practice. However, little is known about patients' attitudes toward incorporation of genetic risk information as a component of personal health information in EHRs. This study investigated whether disclosure of a genetic risk score (GRS) for coronary heart disease influences attitudes toward incorporation of personal health information including genetic risk in EHRs. Participants aged 45-65 years with intermediate 10-year coronary heart disease risk were randomized to receive a conventional risk score (CRS) alone or with a GRS from a genetic counselor, followed by shared decision making with a physician using the same standard presentation and information templates for all study participants. The CRS and GRS were then incorporated into the EHR and made accessible to both patients and physicians. Baseline and post-disclosure surveys were completed to assess whether attitudes differed by GRS disclosure. Data were collected from 2013 to 2015 and analyzed in 2015-2016. GRS and CRS participants reported similar positive attitudes toward incorporation of genetic risk information in the EHR. Compared with CRS participants, participants with high GRS were more concerned about the confidentiality of genetic risk information (OR=3.67, 95% CI=1.29, 12.32, p=0.01). Post-disclosure, frequency of patient portal access was associated with positive attitudes. Participants in this study of coronary heart disease risk disclosure overall had positive attitudes toward incorporation of genetic risk information in EHRs, although those who received genetic risk information had concerns about confidentiality. Copyright © 2016 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

  8. 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…

  9. Neuroimaging and advanced social living

    DEFF Research Database (Denmark)

    Larsen, Torben

    2012-01-01

    Background: Snow stated in 1959 a modern conflict between classical hermeneutic humanism and natural science which recently has been renewed by Kensei Hiwaki [2011]. However, the last decade has brought a breakthrough in the study of the neural base of mental processes by neuroimaging which may...... patients. Further, this healing principle explains classical relaxation procedures as yoga and meditation as coping techniques. 2. Mental balance between L(x) and NC is not a continued but a discrete variable of general risk attitude differentiating 4 sub-groups corresponding to the classical tempers which...

  10. Genetic Information, the Principle of Rescue, and Special Obligations.

    Science.gov (United States)

    Liao, S Matthew; Mackenzie, Jordan

    2018-05-01

    In "Genetic Privacy, Disease Prevention, and the Principle of Rescue," Madison Kilbride argues that patients have a duty to warn biological family members about clinically actionable adverse genetic findings. The duty does not stem from the special obligations that we may have to family members, she argues, but rather follows from the principle of rescue, which she understands as the idea that one ought to prevent, reduce, or mitigate the risk of harm to another person when the expected harm is serious and the cost or risk to oneself is sufficiently moderate. We doubt, however, whether the principle of rescue can ground a duty to warn in the cases Kilbride envisages, and we suggest that Kilbride may have underappreciated the role that special obligations could play in generating a duty to warn family members. © 2018 The Hastings Center.

  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. Disentangling hexaploid genetics : towards DNA-informed breeding for postharvest performance in chrysanthemum

    NARCIS (Netherlands)

    Geest, van Geert

    2017-01-01

    DNA-informed selection can strongly improve the process of plant breeding. It requires the detection of DNA polymorphisms, calculation of genetic linkage, access to reliable phenotypes and methods to detect genetic loci associated with phenotypic traits of interest. Cultivated chrysanthemum is an

  13. 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.

  14. What's new in neuroimaging methods?

    Science.gov (United States)

    Bandettini, Peter A.

    2009-01-01

    The rapid advancement of neuroimaging methodology and availability has transformed neuroscience research. The answers to many questions that we ask about how the brain is organized depend on the quality of data that we are able to obtain about the locations, dynamics, fluctuations, magnitudes, and types of brain activity and structural changes. In this review, an attempt is made to take a snapshot of the cutting edge of a small component of the very rapidly evolving field of neuroimaging. For each area covered, a brief context is provided along with a summary of a few of the current developments and issues. Then, several outstanding papers, published in the past year or so, are described, providing an example of the directions in which each area is progressing. The areas covered include functional MRI (fMRI), voxel based morphometry (VBM), diffusion tensor imaging (DTI), electroencephalography (EEG), magnetoencephalography (MEG), optical imaging, and positron emission tomography (PET). More detail is included on fMRI, as subsections include: functional MRI interpretation, new functional MRI contrasts, MRI technology, MRI paradigms and processing, and endogenous oscillations in functional MRI. PMID:19338512

  15. 78 FR 70617 - Open Government: Use of Genetic Information in Documenting and Evaluating Disability

    Science.gov (United States)

    2013-11-26

    ... information in the disability decision process and what issues we should consider. \\1\\ 20 CFR 404.1512-404... genetic information in the disability determination process. The forum is open to all members of the....socialsecurity.gov . SUPPLEMENTARY INFORMATION: Under our current, long-standing policy, we do not purchase...

  16. Genetic and bibliographic information: KRT5 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available nd Neonatal Diseases and Abnormalities (C16) > Congenital Abnormalities (C16.131) > Skin Abnormalities (C16....ases, 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 (C17.800) > Skin....493) > Epidermolysis Bullosa Simplex (C17.800.804.493.180) Skin and Connective Tissue Diseases (C17) > Skin Diseases (C17.800) > Ski...rmolysis Bullosa Simplex (C17.800.827.275.180) Skin and Connective Tissue Diseases (C17) > Skin

  17. [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.

  18. 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.

  19. Different concepts and models of information for family-relevant genetic findings: comparison and ethical analysis.

    Science.gov (United States)

    Lenk, Christian; Frommeld, Debora

    2015-08-01

    Genetic predispositions often concern not only individual persons, but also other family members. Advances in the development of genetic tests lead to a growing number of genetic diagnoses in medical practice and to an increasing importance of genetic counseling. In the present article, a number of ethical foundations and preconditions for this issue are discussed. Four different models for the handling of genetic information are presented and analyzed including a discussion of practical implications. The different models' ranges of content reach from a strictly autonomous position over self-governed arrangements in the practice of genetic counseling up to the involvement of official bodies and committees. The different models show a number of elements which seem to be very useful for the handling of genetic data in families from an ethical perspective. In contrast, the limitations of the standard medical attempt regarding confidentiality and personal autonomy in the context of genetic information in the family are described. Finally, recommendations for further ethical research and the development of genetic counseling in families are given.

  20. 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.

  1. The information value of non-genetic inheritance in plants and animals.

    Directory of Open Access Journals (Sweden)

    Sinead English

    Full Text Available Parents influence the development of their offspring in many ways beyond the transmission of DNA. This includes transfer of epigenetic states, nutrients, antibodies and hormones, and behavioural interactions after birth. While the evolutionary consequences of such non-genetic inheritance are increasingly well understood, less is known about how inheritance mechanisms evolve. Here, we present a simple but versatile model to explore the adaptive evolution of non-genetic inheritance. Our model is based on a switch mechanism that produces alternative phenotypes in response to different inputs, including genes and non-genetic factors transmitted from parents and the environment experienced during development. This framework shows how genetic and non-genetic inheritance mechanisms and environmental conditions can act as cues by carrying correlational information about future selective conditions. Differential use of these cues is manifested as different degrees of genetic, parental or environmental morph determination. We use this framework to evaluate the conditions favouring non-genetic inheritance, as opposed to genetic determination of phenotype or within-generation plasticity, by applying it to two putative examples of adaptive non-genetic inheritance: maternal effects on seed germination in plants and transgenerational phase shift in desert locusts. Our simulation models show how the adaptive value of non-genetic inheritance depends on its mechanism, the pace of environmental change, and life history characteristics.

  2. The likely financial effects on individuals, industry and commerce of the use of genetic information.

    Science.gov (United States)

    Ross, T

    1997-08-29

    In this paper I look at the financial implications of genetic testing, particularly in the employment and pensions fields. I have generally not covered life insurance, as that is covered in other papers in this Discussion Meeting. However, the issues are similar, although the emphasis is different. Inevitably there is an element of speculation involved; genetic testing is in its infancy and so we cannot predict either what information we will be able to obtain through genetic testing, nor the uses that may be devised for this information.

  3. 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.

  4. Diagnostic and therapeutic utility of neuroimaging in depression: an overview.

    Science.gov (United States)

    Wise, Toby; Cleare, Anthony J; Herane, Andrés; Young, Allan H; Arnone, Danilo

    2014-01-01

    A growing number of studies have used neuroimaging to further our understanding of how brain structure and function are altered in major depression. More recently, these techniques have begun to show promise for the diagnosis and treatment of depression, both as aids to conventional methods and as methods in their own right. In this review, we describe recent neuroimaging findings in the field that might aid diagnosis and improve treatment accuracy. Overall, major depression is associated with numerous structural and functional differences in neural systems involved in emotion processing and mood regulation. Furthermore, several studies have shown that the structure and function of these systems is changed by pharmacological and psychological treatments of the condition and that these changes in candidate brain regions might predict clinical response. More recently, "machine learning" methods have used neuroimaging data to categorize individual patients according to their diagnostic status and predict treatment response. Despite being mostly limited to group-level comparisons at present, with the introduction of new methods and more naturalistic studies, neuroimaging has the potential to become part of the clinical armamentarium and may improve diagnostic accuracy and inform treatment choice at the patient level.

  5. 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.

  6. 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.

  7. Developmental cognitive genetics: How psychology can inform genetics and vice versa

    OpenAIRE

    Bishop, Dorothy V. M.

    2006-01-01

    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 ...

  8. Neuroimaging Biomarkers of Neurodegenerative Diseases and Dementia

    OpenAIRE

    Risacher, Shannon L.; Saykin, Andrew J.

    2013-01-01

    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, famili...

  9. Neuroimaging and Research into Second Language Acquisition

    Science.gov (United States)

    Sabourin, Laura

    2009-01-01

    Neuroimaging techniques are becoming not only more and more sophisticated but are also coming to be increasingly accessible to researchers. One thing that one should take note of is the potential of neuroimaging research within second language acquisition (SLA) to contribute to issues pertaining to the plasticity of the adult brain and to general…

  10. Applying Multivariate Discrete Distributions to Genetically Informative Count Data.

    Science.gov (United States)

    Kirkpatrick, Robert M; Neale, Michael C

    2016-03-01

    We present a novel method of conducting biometric analysis of twin data when the phenotypes are integer-valued counts, which often show an L-shaped distribution. Monte Carlo simulation is used to compare five likelihood-based approaches to modeling: our multivariate discrete method, when its distributional assumptions are correct, when they are incorrect, and three other methods in common use. With data simulated from a skewed discrete distribution, recovery of twin correlations and proportions of additive genetic and common environment variance was generally poor for the Normal, Lognormal and Ordinal models, but good for the two discrete models. Sex-separate applications to substance-use data from twins in the Minnesota Twin Family Study showed superior performance of two discrete models. The new methods are implemented using R and OpenMx and are freely available.

  11. Neuroimaging in psychiatry: from bench to bedside

    Directory of Open Access Journals (Sweden)

    David E Linden

    2009-12-01

    Full Text Available This perspective considers the present and the future role of different neuroimaging techniques in the field of psychiatry. After identifying shortcomings of the mainly symptom-focussed diagnostic processes and treatment decisions in modern psychiatry, we suggest topics where neuroimaging methods have the potential to help. These include better understanding of the pathophysiology, improved diagnoses, assistance in therapeutic decisions and the supervision of treatment success by direct assessment of improvement in disease-related brain functions. These different questions are illustrated by examples from neuroimaging studies, with a focus on severe mental and neuropsychiatric illnesses such as schizophrenia, depression and dementia. Despite all reservations addressed in the article, we are optimistic, that neuroimaging has a huge potential with regard to the above-mentioned questions. We expect that neuroimaging will play an increasing role in the future refinement of the diagnostic process and aid in the development of new therapies in the field of psychiatry.

  12. [Exploring dream contents by neuroimaging].

    Science.gov (United States)

    Horikawa, Tomoyasu; Kamitani, Yukiyasu

    2014-04-01

    Dreaming is a subjective experience during sleep that is often accompanied by vivid perceptual and emotional contents. Because of its fundamentally subjective nature, the objective study of dream contents has been challenging. However, since the discovery of rapid eye movements during sleep, scientific knowledge on the relationship between dreaming and physiological measures including brain activity has accumulated. Recent advances in neuroimaging analysis methods have made it possible to uncover direct links between specific dream contents and brain activity patterns. In this review, we first give a historical overview on dream researches with a focus on the neurophysiological and behavioral signatures of dreaming. We then discuss our recent study in which visual dream contents were predicted, or decoded, from brain activity during sleep onset periods using machine learning-based pattern recognition of functional MRI data. We suggest that advanced analytical tools combined with neural and behavioral databases will reveal the relevance of spontaneous brain activity during sleep to waking experiences.

  13. Functional neuroimaging of sleep disorders

    International Nuclear Information System (INIS)

    Qiu Chun; Zhao Jun; Guan Yihui

    2013-01-01

    Sleep disorders may affect the health and normal life of human badly. However, the pathophysiology underlying adult sleep disorders is still unclear. Functional neuroimaging can be used to investigate whether sleep disorders are associated with specific changes in brain structure or regional activity. This paper reviews functional brain imaging findings in major intrinsic sleep disorders (i.e., idiopathic insomnia, narcolepsy, and obstructive sleep apnea) and in abnormal motor behavior during sleep (i.e., periodic limb movement disorder and REM sleep behavior disorder). Metabolic/functional investigations (positron emission tomography, single photon emission computed tomography, functional magnetic resonance imaging) are mainly reviewed, as well as neuroanatomical assessments (voxel-based morphometry, magnetic resonance spectroscopy). Meanwhile, here are some brief introduction of different kinds of sleep disorders. (authors)

  14. The use of genetic information in the insurance sector--a German perspective.

    Science.gov (United States)

    Armbrüster, Christian; Obal, Monika

    2013-01-01

    The following paper offers an introduction to the legal framework concerning the use of genetic information in the insurance sector in Germany. The main contents and the controversial issues of the key regulation are examined. The aim of this rule being to secure human dignity by respecting the right to informational self-determination regarding genetic data, including the individual's right not to know about their genetic characteristics, there are a number of open issues which are being addressed. For instance, the influence of the prohibition to ask for genetic testing and to use the results of any such testing by the insurer is examined. This examination leads to some explicit results, such as the assumption that in addition to the ban on the use of genetic testing no questions about family medical history are admissible. The authors embark on the definition of genetic testing and the question to what extent the results of diagnostic genetic testing may still be made use of in the context of the insured person's obligation to display pre-existing conditions and diseases when the contract is concluded. In this respect distinctions between diagnostic and predictive genetic testing as well as between disease and disposition are drawn. Furthermore, the exceptions from the prohibition to use results of genetic testing are examined, and the scope of the prohibition of acceptance of results of genetic testing even if performed at the instigation of the insured is explored. Finally the consequences, encompassing criminal liability and private law ramifications, of the violation of the prohibition are presented. In this context, a narrow understanding of the aggravated criminal offence of using results of genetic testing with the intent to personal enrichment or in return for payments is developed. Finally the effects on the validity of the insurance contract and the question whether the insurer may be forced to conclude a contract are examined.

  15. An empirical comparison of different approaches for combining multimodal neuroimaging data with support vector machine.

    Science.gov (United States)

    Pettersson-Yeo, William; Benetti, Stefania; Marquand, Andre F; Joules, Richard; Catani, Marco; Williams, Steve C R; Allen, Paul; McGuire, Philip; Mechelli, Andrea

    2014-01-01

    In the pursuit of clinical utility, neuroimaging researchers of psychiatric and neurological illness are increasingly using analyses, such as support vector machine, that allow inference at the single-subject level. Recent studies employing single-modality data, however, suggest that classification accuracies must be improved for such utility to be realized. One possible solution is to integrate different data types to provide a single combined output classification; either by generating a single decision function based on an integrated kernel matrix, or, by creating an ensemble of multiple single modality classifiers and integrating their predictions. Here, we describe four integrative approaches: (1) an un-weighted sum of kernels, (2) multi-kernel learning, (3) prediction averaging, and (4) majority voting, and compare their ability to enhance classification accuracy relative to the best single-modality classification accuracy. We achieve this by integrating structural, functional, and diffusion tensor magnetic resonance imaging data, in order to compare ultra-high risk (n = 19), first episode psychosis (n = 19) and healthy control subjects (n = 23). Our results show that (i) whilst integration can enhance classification accuracy by up to 13%, the frequency of such instances may be limited, (ii) where classification can be enhanced, simple methods may yield greater increases relative to more computationally complex alternatives, and, (iii) the potential for classification enhancement is highly influenced by the specific diagnostic comparison under consideration. In conclusion, our findings suggest that for moderately sized clinical neuroimaging datasets, combining different imaging modalities in a data-driven manner is no "magic bullet" for increasing classification accuracy. However, it remains possible that this conclusion is dependent on the use of neuroimaging modalities that had little, or no, complementary information to offer one another, and that the

  16. GENE X ENVIRONMENT INTERACTIONS IN SCHIZOPHRENIA AND BIPOLAR DISORDER:EVIDENCE FROM NEUROIMAGING

    Directory of Open Access Journals (Sweden)

    Pierre Alexis Geoffroy

    2013-10-01

    Full Text Available Introduction: Schizophrenia (SZ and Bipolar disorder (BD are considered as severe multifactorial diseases, stemming from genetic and environmental influences. Growing evidence supports gene x environment (GxE interactions in these disorders and neuroimaging studies can help us to understand how those factors mechanistically interact. No reviews synthesized the existing data of neuroimaging studies in these issues.Methods: We conduct a systematic review on the neuroimaging studies exploring GxE interactions relative to SZ or BD in PubMed.Results: First results of the influence of genetic and environmental risks on brain structures came from monozygotic twin pairs concordant and discordant for SZ or BD. Few structural magnetic resonance imaging (sMRI studies have explored the GxE interactions. No other imaging methods were found. Two main GxE interactions on brain volumes have arisen. First, an interaction between genetic liability to SZ and obstetric complications on gray matter, cerebrospinal fluid and hippocampal volumes. Second, cannabis use and genetic liability interaction effects on cortical thickness and white matter volumes.Conclusion: Combining GxE interactions and neuroimaging domains is a promising approach. Genetic risk and environmental exposures such as cannabis or obstetrical complications seem to interact leading to specific neuroimaging cerebral alterations in SZ. They are suggestive of GxE interactions that confer phenotypic abnormalities in SZ and possibly BD. We need further, larger neuroimaging studies of GxE interactions for which we may propose a framework focusing on GxE interactions data already known to have a clinical effect such as infections, early stress, urbanicity and substance abuse.

  17. Diagnostic and therapeutic utility of neuroimaging in depression: an overview

    Directory of Open Access Journals (Sweden)

    Wise T

    2014-08-01

    Full Text Available Toby Wise,1 Anthony J Cleare,1 Andrés Herane,1,2 Allan H Young,1 Danilo Arnone1 1King’s College London, Institute of Psychiatry, Department of Psychological Medicine, Centre for Affective Disorders, London, United Kingdom; 2Clínica Psiquiátrica Universitaria, Universidad de Chile, Santiago, Chile Abstract: A growing number of studies have used neuroimaging to further our understanding of how brain structure and function are altered in major depression. More recently, these techniques have begun to show promise for the diagnosis and treatment of depression, both as aids to conventional methods and as methods in their own right. In this review, we describe recent neuroimaging findings in the field that might aid diagnosis and improve treatment accuracy. Overall, major depression is associated with numerous structural and functional differences in neural systems involved in emotion processing and mood regulation. Furthermore, several studies have shown that the structure and function of these systems is changed by pharmacological and psychological treatments of the condition and that these changes in candidate brain regions might predict clinical response. More recently, “machine learning” methods have used neuroimaging data to categorize individual patients according to their diagnostic status and predict treatment response. Despite being mostly limited to group-level comparisons at present, with the introduction of new methods and more naturalistic studies, neuroimaging has the potential to become part of the clinical armamentarium and may improve diagnostic accuracy and inform treatment choice at the patient level. Keywords: depression, mood disorder, neuroimaging, diagnosis, treatment

  18. Comparison and improvements of different Bayesian procedures to integrate external information into genetic evaluations

    NARCIS (Netherlands)

    Vandenplas, J.; Gengler, N.

    2012-01-01

    The aim of this research was to compare different Bayesian procedures to integrate information from outside a given evaluation system, hereafter called external information, and in this context estimated breeding values (EBV), into this genetic evaluation, hereafter called internal evaluation, and

  19. 78 FR 78462 - Open Government: Use of Genetic Information in Documenting and Evaluating Disability; Extension...

    Science.gov (United States)

    2013-12-26

    ..., Social Security Online, at http://www.socialsecurity.gov . SUPPLEMENTARY INFORMATION: On November 26... SOCIAL SECURITY ADMINISTRATION [Docket No. SSA-2013-0054] Open Government: Use of Genetic Information in Documenting and Evaluating Disability; Extension of Comment Period AGENCY: Social Security...

  20. 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…

  1. Weight of the evidence of genetic investigations of ancestry informative markers

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Eriksen, Poul Svante; Mogensen, Helle Smidt

    2018-01-01

    Ancestry-informative markers (AIMs) are markers that give information about the ancestry of individuals. They are used in forensic genetics for predicting the geographic origin of the investigated individual in crime and identification cases. In the exploration of the genogeographic origin...

  2. [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.

  3. 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

  4. Visual attention and the neuroimage bias.

    Directory of Open Access Journals (Sweden)

    D A Baker

    Full Text Available Several highly-cited experiments have presented evidence suggesting that neuroimages may unduly bias laypeople's judgments of scientific research. This finding has been especially worrisome to the legal community in which neuroimage techniques may be used to produce evidence of a person's mental state. However, a more recent body of work that has looked directly at the independent impact of neuroimages on layperson decision-making (both in legal and more general arenas, and has failed to find evidence of bias. To help resolve these conflicting findings, this research uses eye tracking technology to provide a measure of attention to different visual representations of neuroscientific data. Finding an effect of neuroimages on the distribution of attention would provide a potential mechanism for the influence of neuroimages on higher-level decisions. In the present experiment, a sample of laypeople viewed a vignette that briefly described a court case in which the defendant's actions might have been explained by a neurological defect. Accompanying these vignettes was either an MRI image of the defendant's brain, or a bar graph depicting levels of brain activity-two competing visualizations that have been the focus of much of the previous research on the neuroimage bias. We found that, while laypeople differentially attended to neuroimagery relative to the bar graph, this did not translate into differential judgments in a way that would support the idea of a neuroimage bias.

  5. Approach to estimation of level of information security at enterprise based on genetic algorithm

    Science.gov (United States)

    V, Stepanov L.; V, Parinov A.; P, Korotkikh L.; S, Koltsov A.

    2018-05-01

    In the article, the way of formalization of different types of threats of information security and vulnerabilities of an information system of the enterprise and establishment is considered. In a type of complexity of ensuring information security of application of any new organized system, the concept and decisions in the sphere of information security are expedient. One of such approaches is the method of a genetic algorithm. For the enterprises of any fields of activity, the question of complex estimation of the level of security of information systems taking into account the quantitative and qualitative factors characterizing components of information security is relevant.

  6. Endogenous information, adverse selection, and prevention: Implications for genetic testing policy.

    Science.gov (United States)

    Peter, Richard; Richter, Andreas; Thistle, Paul

    2017-09-01

    We examine public policy toward the use of genetic information by insurers. Individuals engage in unobservable primary prevention and have access to different prevention technologies. Thus, insurance markets are affected by moral hazard and adverse selection. Individuals can choose to take a genetic test to acquire information about their prevention technology. Information has positive decision-making value, that is, individuals may adjust their behavior based on the result of the test. However, testing also exposes individuals to uncertainty over the available insurance contract, so-called classification risk, which lowers the value of information. In our analysis we distinguish between four different policy regimes, determine the value of information under each regime and associated equilibrium outcomes on the insurance market. We show that the policy regimes can be Pareto ranked, with a duty to disclose being the preferred regime and an information ban the least preferred one. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Disclosing genetic information to at-risk relatives: new Australian privacy principles, but uniformity still elusive.

    Science.gov (United States)

    Otlowski, Margaret F A

    2015-04-06

    There is growing understanding of the need for genetic information to be shared with genetic relatives in some circumstances. Since 2006, s 95AA of the Privacy Act 1988 (Cwlth) has permitted the disclosure of genetic information to genetic relatives without the patient's consent, provided that the health practitioner reasonably believes that disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of the genetic relatives. Enabling guidelines were introduced in 2009. These were limited to the private sector, and excluded doctors working in the public sector at both Commonwealth and state and territory levels. Privacy legislation was amended in March 2014, and new Australian Privacy Principles, which replace the National Privacy Principles and Information Privacy Principles, now cover the collection and use of personal information. The Privacy Act and the Australian Privacy Principles now extend to practitioners employed by the Commonwealth but not to health practitioners working in state and territory public hospitals. In this article, I review these legislative developments and highlight the implications of the lack of uniformity and the consequent need for a collaborative, uniform approach by states and territories.

  8. Learning Neuroimaging. 100 essential cases

    International Nuclear Information System (INIS)

    Asis Bravo-Rodriguez, Francisco de; Diaz-Aguilera, Rocio; Hygino da Cruz, Luiz Celso

    2012-01-01

    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.)

  9. 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.)

  10. Developments in functional neuroimaging techniques

    International Nuclear Information System (INIS)

    Aine, C.J.

    1995-01-01

    A recent review of neuroimaging techniques indicates that new developments have primarily occurred in the area of data acquisition hardware/software technology. For example, new pulse sequences on standard clinical imagers and high-powered, rapidly oscillating magnetic field gradients used in echo planar imaging (EPI) have advanced MRI into the functional imaging arena. Significant developments in tomograph design have also been achieved for monitoring the distribution of positron-emitting radioactive tracers in the body (PET). Detector sizes, which pose a limit on spatial resolution, have become smaller (e.g., 3--5 mm wide) and a new emphasis on volumetric imaging has emerged which affords greater sensitivity for determining locations of positron annihilations and permits smaller doses to be utilized. Electromagnetic techniques have also witnessed growth in the ability to acquire data from the whole head simultaneously. EEG techniques have increased their electrode coverage (e.g., 128 channels rather than 16 or 32) and new whole-head systems are now in use for MEG. But the real challenge now is in the design and implementation of more sophisticated analyses to effectively handle the tremendous amount of physiological/anatomical data that can be acquired. Furthermore, such analyses will be necessary for integrating data across techniques in order to provide a truly comprehensive understanding of the functional organization of the human brain

  11. Functional neuroimaging in Alzheimer's disease

    International Nuclear Information System (INIS)

    Matsuda, Hiroshi

    2006-01-01

    Recent progress in the title is reviewed often referring to authors' investigations. The method eZIS developed by them is for automated diagnosis of brain perfusion SPECT, where voxel-based analysis can be done using a Z-score map calculable from patient's data and standard database with 3D-stereotactic surface projection. Decreases of regional cerebral blood flow (rCBF) and of glucose metabolism detectable in specified brain regions by PET or SPECT in patients with mild cognitive impairment (MCI), are found useful for predicting the stage progression of MCI to Alzheimer disease (AD) in future. Partial volume correction method, essentially the division of images of a gray matter SPECT by MR, has elevated the precision of cerebral image analysis. Differential diagnosis of AD and dementia with Lewy bodies, the second most common form of dementia, is possible by the difference of occipital perfusion or glucose metabolism. Evidences by rCBF SPECT as well as by symptomatic ones have been accumulated recently for the therapeutic effect of donepezil, an inhibitor of acetylcholine esterase used for AD treatment. PET and SPECT imaging for the assessment of rCBF and metabolism has thus played very important roles in AD diagnosis, staging, differentiation, prediction and drug effect assessment. Recent advance in voxel-based statistical analysis of PET and SPECT images has raised the value of neuroimaging in dementia. (T.I.)

  12. 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.

  13. Recent progress of neuroimaging studies on sleeping brain

    International Nuclear Information System (INIS)

    Sasaki, Yuka

    2012-01-01

    Although sleep is a familiar phenomenon, its functions are yet to be elucidated. Understanding these functions of sleep is an important focus area in neuroscience. Electroencephalography (EEG) has been the predominantly used method in human sleep research but does not provide detailed spatial information about brain activation during sleep. To supplement the spatial information provided by this method, researchers have started using a combination of EEG and various advanced neuroimaging techniques that have been recently developed, including positron emission tomography (PET) and magnetic resonance imaging (MRI). In this paper, we will review the recent progress in sleep studies, especially studies that have used such advanced neuroimaging techniques. First, we will briefly introduce several neuroimaging techniques available for use in sleep studies. Next, we will review the spatiotemporal brain activation patterns during non-rapid eye movement (NREM) and rapid eye movement (REM) sleep, the dynamics of functional connectivity during sleep, and the consolidation of learning and memory during sleep; studies on the neural correlates of dreams, which have not yet been identified, will also be discussed. Lastly, possible directions for future research in this area will be discussed. (author)

  14. [Recent progress of neuroimaging studies on sleeping brain].

    Science.gov (United States)

    Sasaki, Yuka

    2012-06-01

    Although sleep is a familiar phenomenon, its functions are yet to be elucidated. Understanding these functions of sleep is an important focus area in neuroscience. Electroencephalography (EEG) has been the predominantly used method in human sleep research but does not provide detailed spatial information about brain activation during sleep. To supplement the spatial information provided by this method, researchers have started using a combination of EEG and various advanced neuroimaging techniques that have been recently developed, including positron emission tomography (PET) and magnetic resonance imaging (MRI). In this paper, we will review the recent progress in sleep studies, especially studies that have used such advanced neuroimaging techniques. First, we will briefly introduce several neuroimaging techniques available for use in sleep studies. Next, we will review the spatiotemporal brain activation patterns during non-rapid eye movement (NREM) and rapid eye movement (REM) sleep, the dynamics of functional connectivity during sleep, and the consolidation of learning and memory during sleep; studies on the neural correlates of dreams, which have not yet been identified, will also be discussed. Lastly, possible directions for future research in this area will be discussed.

  15. Communicating genetic risk information for common disorders in the era of genomic medicine.

    Science.gov (United States)

    Lautenbach, Denise M; Christensen, Kurt D; Sparks, Jeffrey A; Green, Robert C

    2013-01-01

    Communicating genetic risk information in ways that maximize understanding and promote health is increasingly important given the rapidly expanding availability and capabilities of genomic technologies. A well-developed literature on risk communication in general provides guidance for best practices, including presentation of information in multiple formats, attention to framing effects, use of graphics, sensitivity to the way numbers are presented, parsimony of information, attentiveness to emotions, and interactivity as part of the communication process. Challenges to communicating genetic risk information include deciding how best to tailor it, streamlining the process, deciding what information to disclose, accepting that communications may have limited influence, and understanding the impact of context. Meeting these challenges has great potential for empowering individuals to adopt healthier lifestyles and improve public health, but will require multidisciplinary approaches and collaboration.

  16. 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.

  17. Eugenics and Mandatory Informed Prenatal Genetic Testing: A Unique Perspective from China.

    Science.gov (United States)

    Zhang, Di; Ng, Vincent H; Wang, Zhaochen; Zhai, Xiaomei; Lie, Reidar K

    2016-08-01

    The application of genetic technologies in China, especially in the area of prenatal genetic testing, is rapidly increasing in China. In the wealthy regions of China, prenatal genetic testing is already very widely adopted. We argue that the government should actively promote prenatal genetic testing to the poor areas of the country. In fact, the government should prioritize resources first to make prenatal genetic testing a standard routine care with an opt-out model in these area. Healthcare professions would be required to inform pregnant women about the availability of genetic testing and provide free testing on a routine basis unless the parents choose not to do so. We argue that this proposal will allow parents to make a more informed decision about their reproductive choices. Secondarily, this proposal will attract more healthcare professionals and other healthcare resources to improve the healthcare infrastructures in the less-developed regions of the country. This will help to reduce the inequity of accessing healthcare services between in different regions of China. We further argue that this policy proposal is not practicing eugenics. © 2015 John Wiley & Sons Ltd.

  18. Exploring dispositional tendencies to seek online information about direct-to-consumer genetic testing.

    Science.gov (United States)

    Paquin, Ryan S; Richards, Adam S; Koehly, Laura M; McBride, Colleen M

    2012-12-01

    Varying perspectives exist regarding the implications of genetic susceptibility testing for common disease, with some anticipating adverse effects and others expecting positive outcomes; however, little is known about the characteristics of people who are most likely to be interested in direct-to-consumer genetic testing. To that end, this study examines the association of individual dispositional differences with health risk perceptions and online information seeking related to a free genetic susceptibility test. Healthy adults enrolled in a large health maintenance organization were surveyed by telephone. Eligible participants (N = 1,959) were given access to a secure website that provided risk and benefit information about a genetic susceptibility test and given the option to be tested. Neuroticism was associated with increased perceptions of disease risk but not with logging on. Those scoring high in conscientiousness were more likely to log on. We found no evidence that neuroticism, a dispositional characteristic commonly linked to adverse emotional response, was predictive of online genetic information seeking in this sample of healthy adults.

  19. Guidelines for the ethical use of neuroimages in medical testimony: report of a multidisciplinary consensus conference.

    Science.gov (United States)

    Meltzer, C C; Sze, G; Rommelfanger, K S; Kinlaw, K; Banja, J D; Wolpe, P R

    2014-04-01

    With rapid advances in neuroimaging technology, there is growing concern over potential misuse of neuroradiologic imaging data in legal matters. On December 7 and 8, 2012, a multidisciplinary consensus conference, Use and Abuse of Neuroimaging in the Courtroom, was held at Emory University in Atlanta, Georgia. Through this interactive forum, a highly select group of experts-including neuroradiologists, neurologists, forensic psychiatrists, neuropsychologists, neuroscientists, legal scholars, imaging statisticians, judges, practicing attorneys, and neuroethicists-discussed the complex issues involved in the use of neuroimaging data entered into legal evidence and for associated expert testimony. The specific contexts of criminal cases, child abuse, and head trauma were especially considered. The purpose of the conference was to inform the development of guidelines on expert testimony for the American Society of Neuroradiology and to provide principles for courts on the ethical use of neuroimaging data as evidence. This report summarizes the conference and resulting recommendations.

  20. Confidentiality, privacy, and security of genetic and genomic test information in electronic health records: points to consider.

    Science.gov (United States)

    McGuire, Amy L; Fisher, Rebecca; Cusenza, Paul; Hudson, Kathy; Rothstein, Mark A; McGraw, Deven; Matteson, Stephen; Glaser, John; Henley, Douglas E

    2008-07-01

    As clinical genetics evolves, and we embark down the path toward more personalized and effective health care, the amount, detail, and complexity of genetic/genomic test information within the electronic health record will increase. This information should be appropriately protected to secure the trust of patients and to support interoperable electronic health information exchange. This article discusses characteristics of genetic/genomic test information, including predictive capability, immutability, and uniqueness, which should be considered when developing policies about information protection. Issues related to "genetic exceptionalism"; i.e., whether genetic/genomic test information should be treated differently from other medical information for purposes of data access and permissible use, are also considered. These discussions can help guide policy that will facilitate the biological and clinical resource development to support the introduction of this information into health care.

  1. An Agent-Based Framework for E-Commerce Information Retrieval Management Using Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    Floarea NASTASE

    2009-01-01

    Full Text Available The paper addresses the issue of improving retrieval performance management for retrieval from document collections that exist on the Internet. It also comes with a solution that uses the benefits of the agent technology and genetic algorithms in the process of the information retrieving management. The most important paradigms of information retrieval are mentioned having the goal to make more evident the advantages of using the genetic algorithms based one. Within the paper, also a genetic algorithm that can be use for the proposed solution is detailed and a comparative description between the dynamic and static proposed solution is made. In the end, new future directions are shown based on elements presented in this paper. The future results look very encouraging.

  2. 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.

  3. Prognosis after cerebral ischaemia of arterial origin: clinical characteristics and genetic information

    NARCIS (Netherlands)

    Achterberg, S.

    2013-01-01

    Background. Patients who have suffered from cerebral ischemia have a high risk of recurrent vascular events. Predictive models based on classical risk factors typically have limited prognostic value. Given that cerebral ischemia has a heritable component, addition of genetic information might

  4. 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"…

  5. [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

  6. Woman's Pre-Conception Evaluation: Genetic and Fetal Risk Considerations for Counselling and Informed Choice.

    Science.gov (United States)

    Wilson, R Douglas

    2017-10-11

    To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. This information may allow improved risk assessment for pre-conception counselling for individual patients and their families. PubMed or Medline and the Cochrane Database were searched in May 2017 using appropriate key words ("pre-conception," "genetic disease," "maternal," "family history," "genetic," "health risk," "genetic health surveillance," "prenatal screening," "prenatal diagnosis," "birth defects," and "teratogen"). Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies. The benefits for the patient and her family include an increased understanding of relevant genetic risk pre-conception and in early pregnancy, and better pregnancy outcomes as a result of use of the information. The harm includes potential increased anxiety or psychological stress associated with the possibility of identifying genetic risks. The evidence obtained was peer-reviewed by the Genetics Committee of The Society of Obstetricians and Gynaecologists of Canada. Consideration for Care Statements For this review article, the Consideration for Care Statements use the GRADE strength and quality as it is comparable for the clinician and the patient/public user. [GRADE from the Canadian Task Force on Preventive Health Care (www.canadiantaskforce.ca). For clinicians, Strong = The recommendation would apply to most individuals. Formal discussion aids are not likely to be

  7. Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records

    Directory of Open Access Journals (Sweden)

    Darcy Diana C

    2011-11-01

    Full Text Available Abstract Background Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. Discussion As health care systems increasingly implement electronic medical record systems (EMRs they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use. Summary This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

  8. Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records.

    Science.gov (United States)

    Darcy, Diana C; Lewis, Eleanor T; Ormond, Kelly E; Clark, David J; Trafton, Jodie A

    2011-11-02

    Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. As health care systems increasingly implement electronic medical record systems (EMRs) they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use. This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

  9. Neuroscientific and behavioral genetic information in criminal cases in the Netherlands.

    Science.gov (United States)

    de Kogel, C H; Westgeest, E J M C

    2015-11-01

    In this contribution an empirical approach is used to gain more insight into the relationship between neuroscience and criminal law. The focus is on case law in the Netherlands. Neuroscientific information and techniques have found their way into the courts of the Netherlands. Furthermore, following an Italian case in which a mentally ill offender received a penalty reduction in part because of a 'genetic vulnerability for impulsive aggression', the expectation was expressed that such 'genetic defenses' would appear in the Netherlands too. To assess how neuroscientific and behavioral genetic information are used in criminal justice practice in the Netherlands, we systematically collect Dutch criminal cases in which neuroscientific or behavioral genetic information is introduced. Data and case law examples are presented and discussed. Although cases are diverse, several themes appear, such as prefrontal brain damage in relation to criminal responsibility and recidivism risk, and divergent views of the implications of neurobiological knowledge about addiction for judging criminal responsibility. Whereas in the international 'neurolaw literature' the emphasis is often on imaging techniques, the Dutch findings also illustrate the role of neuropsychological methods in criminal cases. Finally, there appears to be a clear need of practice oriented instruments and guidelines.

  10. Integrating genetic and toxicogenomic information for determining underlying susceptibility to developmental disorders.

    Science.gov (United States)

    Robinson, Joshua F; Port, Jesse A; Yu, Xiaozhong; Faustman, Elaine M

    2010-10-01

    To understand the complex etiology of developmental disorders, an understanding of both genetic and environmental risk factors is needed. Human and rodent genetic studies have identified a multitude of gene candidates for specific developmental disorders such as neural tube defects (NTDs). With the emergence of toxicogenomic-based assessments, scientists now also have the ability to compare and understand the expression of thousands of genes simultaneously across strain, time, and exposure in developmental models. Using a systems-based approach in which we are able to evaluate information from various parts and levels of the developing organism, we propose a framework for integrating genetic information with toxicogenomic-based studies to better understand gene-environmental interactions critical for developmental disorders. This approach has allowed us to characterize candidate genes in the context of variables critical for determining susceptibility such as strain, time, and exposure. Using a combination of toxicogenomic studies and complementary bioinformatic tools, we characterize NTD candidate genes during normal development by function (gene ontology), linked phenotype (disease outcome), location, and expression (temporally and strain-dependent). In addition, we show how environmental exposures (cadmium, methylmercury) can influence expression of these genes in a strain-dependent manner. Using NTDs as an example of developmental disorder, we show how simple integration of genetic information from previous studies into the standard microarray design can enhance analysis of gene-environment interactions to better define environmental exposure-disease pathways in sensitive and resistant mouse strains. © Wiley-Liss, Inc.

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

    Directory of Open Access Journals (Sweden)

    Anwar S. Shatil

    2015-01-01

    Full Text Available 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.

  12. 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.

  13. 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

  14. 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

  15. Genetic Variance Partitioning and Genome-Wide Prediction with Allele Dosage Information in Autotetraploid Potato.

    Science.gov (United States)

    Endelman, Jeffrey B; Carley, Cari A Schmitz; Bethke, Paul C; Coombs, Joseph J; Clough, Mark E; da Silva, Washington L; De Jong, Walter S; Douches, David S; Frederick, Curtis M; Haynes, Kathleen G; Holm, David G; Miller, J Creighton; Muñoz, Patricio R; Navarro, Felix M; Novy, Richard G; Palta, Jiwan P; Porter, Gregory A; Rak, Kyle T; Sathuvalli, Vidyasagar R; Thompson, Asunta L; Yencho, G Craig

    2018-05-01

    As one of the world's most important food crops, the potato ( Solanum tuberosum L.) has spurred innovation in autotetraploid genetics, including in the use of SNP arrays to determine allele dosage at thousands of markers. By combining genotype and pedigree information with phenotype data for economically important traits, the objectives of this study were to (1) partition the genetic variance into additive vs. nonadditive components, and (2) determine the accuracy of genome-wide prediction. Between 2012 and 2017, a training population of 571 clones was evaluated for total yield, specific gravity, and chip fry color. Genomic covariance matrices for additive ( G ), digenic dominant ( D ), and additive × additive epistatic ( G # G ) effects were calculated using 3895 markers, and the numerator relationship matrix ( A ) was calculated from a 13-generation pedigree. Based on model fit and prediction accuracy, mixed model analysis with G was superior to A for yield and fry color but not specific gravity. The amount of additive genetic variance captured by markers was 20% of the total genetic variance for specific gravity, compared to 45% for yield and fry color. Within the training population, including nonadditive effects improved accuracy and/or bias for all three traits when predicting total genotypic value. When six F 1 populations were used for validation, prediction accuracy ranged from 0.06 to 0.63 and was consistently lower (0.13 on average) without allele dosage information. We conclude that genome-wide prediction is feasible in potato and that it will improve selection for breeding value given the substantial amount of nonadditive genetic variance in elite germplasm. Copyright © 2018 by the Genetics Society of America.

  16. [How to start a neuroimaging study].

    Science.gov (United States)

    Narumoto, Jin

    2012-06-01

    In order to help researchers understand how to start a neuroimaging study, several tips are described in this paper. These include 1) Choice of an imaging modality, 2) Statistical method, and 3) Interpretation of the results. 1) There are several imaging modalities available in clinical research. Advantages and disadvantages of each modality are described. 2) Statistical Parametric Mapping, which is the most common statistical software for neuroimaging analysis, is described in terms of parameter setting in normalization and level of significance. 3) In the discussion section, the region which shows a significant difference between patients and normal controls should be discussed in relation to the neurophysiology of the disease, making reference to previous reports from neuroimaging studies in normal controls, lesion studies and animal studies. A typical pattern of discussion is described.

  17. 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...... neuroimaging data sets are characterized by relatively few data observations in a high dimensional space. The process of building models in such data sets often requires strong regularization. Often, the degree of model regularization is chosen in order to maximize prediction accuracy. We focus on the relative...... be carefully selected, so that the model and its visualization enhance our ability to interpret brain function. The second part concerns interpretation of nonlinear models and procedures for extraction of ‘brain maps’ from nonlinear kernel models. We assess the performance of the sensitivity map as means...

  18. Molecular neuroimaging of emotional decision-making.

    Science.gov (United States)

    Takahashi, Hidehiko

    2013-04-01

    With the dissemination of non-invasive human neuroimaging techniques such as fMRI and the advancement of cognitive science, neuroimaging studies focusing on emotions and social cognition have become established. Along with this advancement, behavioral economics taking emotional and social factors into account for economic decisions has been merged with neuroscientific studies, and this interdisciplinary approach is called neuroeconomics. Past neuroeconomics studies have demonstrated that subcortical emotion-related brain structures play an important role in "irrational" decision-making. The research field that investigates the role of central neurotransmitters in this process is worthy of further development. Here, we provide an overview of recent molecular neuroimaging studies to further the understanding of the neurochemical basis of "irrational" or emotional decision-making and the future direction, including clinical implications, of the field. Copyright © 2013 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.

  19. Precision Oncology and Genetic Risk Information: Exploring Patients' Preferences and Responses

    Science.gov (United States)

    Dr. Jada Hamilton is an Assistant Member at Memorial Sloan Kettering Cancer Center, as well as an Assistant Attending Psychologist in the Behavioral Sciences Service, Department of Psychiatry and Behavioral Sciences and in the Clinical Genetics Service, Department of Medicine at Memorial Hospital in New York, New York.  She leads a program of research at the intersection of behavioral science, cancer prevention, and genomics, with the goal of translating advances in genetic and genomic medicine into improved cancer care that is of high quality, aligned with patient preferences, and ultimately improves public health.  Dr. Hamilton is also currently leading a study to assess how patients and their families respond to inherited risk information that is revealed as part of tumor sequencing (funded through a Mentored Research Scholar Grant from the American Cancer Society), as well as studies to evaluate alternative models for offering genetic counseling and testing to patients with cancer, and to examine the effects of novel breast cancer genetic risk feedback on patients’ decision-making, psychological, and behavioral outcomes. Prior to joining the faculty of Memorial Sloan Kettering, Dr. Hamilton received a BA in Genetics and Psychology from Ohio Wesleyan University (2004), an MA and PhD in Social and Health Psychology from Stony Brook University (2006, 2009), and an MPH from the Mailman School of Public Health at Columbia University (2010).  She also completed a postdoctoral fellowship as part of the National Cancer Institute’s Cancer Prevention Fellowship Program.

  20. Exosome-Mediated Genetic Information Transfer, a Missing Piece of Osteoblast-Osteoclast Communication Puzzle.

    Science.gov (United States)

    Yin, Pengbin; Lv, Houchen; Li, Yi; Deng, Yuan; Zhang, Licheng; Tang, Peifu

    2017-01-01

    The skeletal system functions and maintains itself based on communication between cells of diverse origins, especially between osteoblasts (OBs) and osteoclasts (OCs), accounting for bone formation and resorption, respectively. Previously, protein-level information exchange has been the research focus, and this has been discussed in detail. The regulative effects of microRNAs (miRNAs) on OB and OC ignite the question as to whether genetic information could be transferred between bone cells. Exosomes, extracellular membrane vesicles 30-100 nm in diameter, have recently been demonstrated to transfer functional proteins, mRNAs, and miRNAs, and serve as mediators of intercellular communication. By reviewing the distinguishing features of exosomes, a hypothesis was formulated and evaluated in this article that exosome-mediated genetic information transfer may represent a novel strategy for OB-OC communication. The exosomes may coordinately regulate these two cells under certain physiological conditions by transferring genetic information. Further research in exosome-shuttered miRNAs in OB-OC communication may add a missing piece to the bone cells communication "puzzle."

  1. Family communication about genetic risk information: particular issues for Duchenne muscular dystrophy.

    Science.gov (United States)

    Plumridge, Gillian; Metcalfe, Alison; Coad, Jane; Gill, Paramjit

    2010-05-01

    Open family communication about genetic conditions and associated risk is important to children's identity, coping and decision making. Parents however find talking to their children difficult and because of associated care needs and emotional reactions it can be particularly stressful in families affected by Duchenne muscular dystrophy (DMD). This article reports on the findings of a group of families affected by DMD who formed part of a larger study where adult and child members of 33 families affected by one of six genetic conditions were interviewed. Parents thought they should talk to children about a genetic condition in their family and children wanted information and open discussion. In families affected by DMD clear gender differences were identified between mothers and fathers in coping and in their roles in relation to the condition. There was a particularly close bond between mothers and affected sons. For most conditions, mothers were central to giving children information but the identified issues made this problematic in families with DMD. This resulted in affected children receiving little information about their condition at all and female siblings being unlikely to receive information about their potential carrier status until they were about 16-year old. Insight into family communication within families affected by DMD assists healthcare professionals in recognizing and meeting the particular support needs of this group of families. Copyright 2010 Wiley-Liss, Inc.

  2. The Information Content of Discrete Functions and Their Application in Genetic Data Analysis.

    Science.gov (United States)

    Sakhanenko, Nikita A; Kunert-Graf, James; Galas, David J

    2017-12-01

    The complex of central problems in data analysis consists of three components: (1) detecting the dependence of variables using quantitative measures, (2) defining the significance of these dependence measures, and (3) inferring the functional relationships among dependent variables. We have argued previously that an information theory approach allows separation of the detection problem from the inference of functional form problem. We approach here the third component of inferring functional forms based on information encoded in the functions. We present here a direct method for classifying the functional forms of discrete functions of three variables represented in data sets. Discrete variables are frequently encountered in data analysis, both as the result of inherently categorical variables and from the binning of continuous numerical variables into discrete alphabets of values. The fundamental question of how much information is contained in a given function is answered for these discrete functions, and their surprisingly complex relationships are illustrated. The all-important effect of noise on the inference of function classes is found to be highly heterogeneous and reveals some unexpected patterns. We apply this classification approach to an important area of biological data analysis-that of inference of genetic interactions. Genetic analysis provides a rich source of real and complex biological data analysis problems, and our general methods provide an analytical basis and tools for characterizing genetic problems and for analyzing genetic data. We illustrate the functional description and the classes of a number of common genetic interaction modes and also show how different modes vary widely in their sensitivity to noise.

  3. 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.

  4. 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.

  5. Genetic and environmental influences on adolescents' smoking involvement: a multi-informant twin study.

    Science.gov (United States)

    Seglem, Karoline Brobakke; Waaktaar, Trine; Ask, Helga; Torgersen, Svenn

    2015-03-01

    Studying monozygotic and dizygotic adolescent twin pairs of both sexes reared together, the present study examined the extent to which the variance in smoking involvement is attributable to genetic and environmental effects, and to what extent there are sex differences in the etiology. Questionnaire data on how often the adolescent had ever smoked tobacco was collected from a population-based twin sample consisting of seven national birth cohorts (ages 12-18), their mothers, and their fathers (N = 1,394 families). The data was analyzed with multivariate genetic modeling, using a multi-informant design. The etiological structure of smoking involvement was best represented in an ACE common pathway model, with smoking defined as a latent factor loading onto all three informants' reports. Estimates could be set equal across sexes. Results showed that adolescent lifetime smoking involvement was moderately heritable (37 %). The largest influence was from the shared environment (56 %), while environmental effects unique to each twin had minimal influence (7 %).

  6. 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.

  7. PET-based molecular nuclear neuro-imaging

    International Nuclear Information System (INIS)

    Kim, Jong Ho

    2004-01-01

    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

  8. 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.

  9. Skin cancer concerns and genetic risk information-seeking in primary care.

    Science.gov (United States)

    Hay, J; Kaphingst, K A; Baser, R; Li, Y; Hensley-Alford, S; McBride, C M

    2012-01-01

    Genomic testing for common genetic variants associated with skin cancer risk could enable personalized risk feedback to motivate skin cancer screening and sun protection. In a cross-sectional study, we investigated whether skin cancer cognitions and behavioral factors, sociodemographics, family factors, and health information-seeking were related to perceived importance of learning about how (a) genes and (b) health habits affect personal health risks using classification and regression trees (CART). The sample (n = 1,772) was collected in a large health maintenance organization as part of the Multiplex Initiative, ranged in age from 25-40, was 53% female, 41% Caucasian, and 59% African-American. Most reported that they placed somewhat to very high importance on learning about how genes (79%) and health habits (88%) affect their health risks. Social influence actors were associated with information-seeking about genes and health habits. Awareness of family history was associated with importance of health habit, but not genetic, information-seeking. The investment of family and friends in health promotion may be a primary motivator for prioritizing information-seeking about how genes and health habits affect personal health risks and may contribute to the personal value, or personal utility, of risk information. Individuals who seek such risk information may be receptive to interventions aimed to maximize the social implications of healthy lifestyle change to reduce their health risks. Copyright © 2011 S. Karger AG, Basel.

  10. 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.

  11. Family physicians' awareness and knowledge of the Genetic Information Non-Discrimination Act (GINA).

    Science.gov (United States)

    Laedtke, Amanda L; O'Neill, Suzanne M; Rubinstein, Wendy S; Vogel, Kristen J

    2012-04-01

    Historically, physicians have expressed concern about their patients' risk of genetic discrimination, which has acted as a barrier to uptake of genetic services. The Genetic Information Nondiscrimination Act of 2008 (GINA) is intended to protect patients against employer and health insurance discrimination. Physicians' awareness and knowledge of GINA has yet to be evaluated. In 2009, we mailed surveys to 1500 randomly selected members of the American Academy of Family Physicians. Questions measured physicians' current knowledge of GINA and their level of concern for genetic discrimination. In total, 401 physicians completed the survey (response rate 26.9%). Approximately half (54.5%) of physicians had no awareness of GINA. Of physicians who reported basic knowledge of GINA, the majority were aware of the protections offered for group health insurance (92.7%), private health insurance (82.9%), and employment (70.7%). Fewer physicians were aware of GINA's limitations regarding life insurance (53.7%) and long-term care insurance (58.8%). Physicians demonstrated highest levels of concern for health insurance, life insurance, and long-term care insurance discrimination, with less concern for employer and family/social discrimination. Level of concern for the risk of genetic discrimination did not correlate significantly with awareness of GINA. Approximately 17 months after GINA was signed into federal law, physicians' knowledge remained limited regarding the existence of this legislation and relevant details. Physicians who are aware of GINA continue to have significant concerns regarding the risk of genetic discrimination. This study reveals the need to further educate physicians about the existence of GINA and the protections offered.

  12. Associations between self-referral and health behavior responses to genetic risk information.

    Science.gov (United States)

    Christensen, Kurt D; Roberts, J Scott; Zikmund-Fisher, Brian J; Kardia, Sharon Lr; McBride, Colleen M; Linnenbringer, Erin; Green, Robert C

    2015-01-01

    Studies examining whether genetic risk information about common, complex diseases can motivate individuals to improve health behaviors and advance planning have shown mixed results. Examining the influence of different study recruitment strategies may help reconcile inconsistencies. Secondary analyses were conducted on data from the REVEAL study, a series of randomized clinical trials examining the impact of genetic susceptibility testing for Alzheimer's disease (AD). We tested whether self-referred participants (SRPs) were more likely than actively recruited participants (ARPs) to report health behavior and advance planning changes after AD risk and APOE genotype disclosure. Of 795 participants with known recruitment status, 546 (69%) were self-referred and 249 (31%) had been actively recruited. SRPs were younger, less likely to identify as African American, had higher household incomes, and were more attentive to AD than ARPs (all P change to at least one health behavior 6 weeks and 12 months after genetic risk disclosure, nor in intentions to change at least one behavior in the future. However, interaction effects were observed where ε4-positive SRPs were more likely than ε4-negative SRPs to report changes specifically to mental activities (38% vs 19%, p change long-term care insurance among SRPs (20% vs 5%, p behavior changes than those who respond to genetic testing offers. These results demonstrate how the behavioral impact of genetic risk information may vary according to the models by which services are provided, and suggest that how participants are recruited into translational genomics research can influence findings. ClinicalTrials.gov NCT00089882 and NCT00462917.

  13. 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.

  14. Paediatric population neuroimaging and the Generation R Study

    DEFF Research Database (Denmark)

    White, Tonya; Muetzel, Ryan L.; El Marroun, Hanan

    2018-01-01

    Paediatric population neuroimaging is an emerging field that falls at the intersection between developmental neuroscience and epidemiology. A key feature of population neuroimaging studies involves large-scale recruitment that is representative of the general population. One successful approach f...

  15. 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.

  16. The search for neuroimaging and cognitive endophenotypes

    DEFF Research Database (Denmark)

    Miskowiak, Kamilla W.; Kjærstad, Hanne L; Meluken, Iselin

    2017-01-01

    and structural neuroimaging. Seventy-seven cross-sectional studies met the inclusion criteria. The present review revealed that URs in comparison with HCs showed: (i) widespread deficits in verbal memory, sustained attention, and executive function; (ii) abnormalities in the reactivity to and regulation...

  17. PET radioligand injection for pig neuroimaging

    DEFF Research Database (Denmark)

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

    2018-01-01

    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...

  18. 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.)

  19. 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

  20. Neuroimaging in childhood headache: a systematic review

    International Nuclear Information System (INIS)

    Alexiou, George A.; Argyropoulou, Maria I.

    2013-01-01

    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.)

  1. Hirayama disease: diagnostic essentials in neuroimaging.

    Science.gov (United States)

    Kapetanakis, Stylianos; Chourmouzi, Danae; Terzoudi, Aikaterini; Georgiou, Nikiforos; Giovannopoulou, Eirini

    2017-12-01

    A 22-year-old male presented with progressive muscular weakness of the upper extremities. MRI of the cervical spine established the final diagnosis of Hirayama disease (HD). HD is a rare disease with benign progress. Neurologists and radiologists should be aware of the specific neuroimaging signs of this rare clinical entity.

  2. Statistical Challenges in "Big Data" Human Neuroimaging.

    Science.gov (United States)

    Smith, Stephen M; Nichols, Thomas E

    2018-01-17

    Smith and Nichols discuss "big data" human neuroimaging studies, with very large subject numbers and amounts of data. These studies provide great opportunities for making new discoveries about the brain but raise many new analytical challenges and interpretational risks. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. 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...

  4. 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

  5. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.

    Science.gov (United States)

    Rubinstein, Wendy S; Maglott, Donna R; Lee, Jennifer M; Kattman, Brandi L; Malheiro, Adriana J; Ovetsky, Michael; Hem, Vichet; Gorelenkov, Viatcheslav; Song, Guangfeng; Wallin, Craig; Husain, Nora; Chitipiralla, Shanmuga; Katz, Kenneth S; Hoffman, Douglas; Jang, Wonhee; Johnson, Mark; Karmanov, Fedor; Ukrainchik, Alexander; Denisenko, Mikhail; Fomous, Cathy; Hudson, Kathy; Ostell, James M

    2013-01-01

    The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html).

  6. Analysis of Informed Consent Document Utilization in a Minimal-Risk Genetic Study

    Science.gov (United States)

    Desch, Karl; Li, Jun; Kim, Scott; Laventhal, Naomi; Metzger, Kristen; Siemieniak, David; Ginsburg, David

    2012-01-01

    Background The signed informed consent document certifies that the process of informed consent has taken place and provides research participants with comprehensive information about their role in the study. Despite efforts to optimize the informed consent document, only limited data are available about the actual use of consent documents by participants in biomedical research. Objective To examine the use of online consent documents in a minimal-risk genetic study. Design Prospective sibling cohort enrolled as part of a genetic study of hematologic and common human traits. Setting University of Michigan Campus, Ann Arbor, Michigan. Participants Volunteer sample of healthy persons with 1 or more eligible siblings aged 14 to 35 years. Enrollment was through targeted e-mail to student lists. A total of 1209 persons completed the study. Measurements Time taken by participants to review a 2833-word online consent document before indicating consent and identification of a masked hyperlink near the end of the document. Results The minimum predicted reading time was 566 seconds. The median time to consent was 53 seconds. A total of 23% of participants consented within 10 seconds, and 93% of participants consented in less than the minimum predicted reading time. A total of 2.5% of participants identified the masked hyperlink. Limitation The online consent process was not observed directly by study investigators, and some participants may have viewed the consent document more than once. Conclusion Few research participants thoroughly read the consent document before agreeing to participate in this genetic study. These data suggest that current informed consent documents, particularly for low-risk studies, may no longer serve the intended purpose of protecting human participants, and the role of these documents should be reassessed. Primary Funding Source National Institutes of Health. PMID:21893624

  7. Assessing Genetic Literacy Awareness and Knowledge Gaps in the US Population: Results from the Health Information National Trends Survey.

    Science.gov (United States)

    Krakow, Melinda; Ratcliff, Chelsea L; Hesse, Bradford W; Greenberg-Worisek, Alexandra J

    2018-05-31

    Public understanding of the role of genetics in disease risk is key to appropriate disease prevention and detection. This study assessed the current extent of awareness and use of genetic testing in the US population. Additionally, the study identified characteristics of subgroups more likely to be at risk for low genetic literacy. The study used data from the National Cancer Institute's 2017 Health Information National Trends Survey, including measures of genetic testing awareness, genetic testing applications and genetic testing usage. Multivariable logistic regression models estimated associations between sociodemographics, genetic testing awareness, and genetic testing use. Fifty-seven percent of respondents were aware of genetic tests. Testing awareness differed by age, household income, and race/ethnicity. Most participants had heard of using tests to determine personal disease risk (82.58%) or inherited disease risk in children (81.41%), but less were familiar with determining treatment (38.29%) or drug efficacy (40.76%). Among those with genetic testing awareness, actual testing uptake was low. A large portion of the general public lacks genetic testing awareness and may benefit from educational campaigns. As precision medicine expands, increasing public awareness about genetic testing applications for disease prevention and treatment will be important to support population health. This is a work of the US Government and is not subject to copyright protection in the United States. Foreign copyrights may apply. Published by S. Karger AG, Basel.

  8. Neuroimaging in Psychiatry: A Review of the Background and ...

    African Journals Online (AJOL)

    There are two different types of neuroimaging of value in clinical psychiatry, namely: structural neuroimaging techniques (e.g., CT, MRI) which provide static images of the skull, and brain, and funnctional neuroimaging techniques (e.g., single photon emission CT [SPECT], positron emission tomography [PET], functional MRI ...

  9. A genetically informative developmental study of the relationship between conduct disorder and peer deviance in males

    Science.gov (United States)

    Kendler, K. S.; Jacobson, K.; Myers, J. M.; Eaves, L. J.

    2014-01-01

    Background Conduct disorder (CD) and peer deviance (PD) both powerfully predict future externalizing behaviors. Although levels of CD and PD are strongly correlated, the causal relationship between them has remained controversial and has not been examined by a genetically informative study. Method Levels of CD and PD were assessed in 746 adult male–male twin pairs at personal interview for ages 8–11, 12–14 and 15–17 years using a life history calendar. Model fitting was performed using the Mx program. Results The best-fit model indicated an active developmental relationship between CD and PD including forward transmission of both traits over time and strong causal relationships between CD and PD within time periods. The best-fit model indicated that the causal relationship for genetic risk factors was from CD to PD and was constant over time. For common environmental factors, the causal pathways ran from PD to CD and were stronger in earlier than later age periods. Conclusions A genetically informative model revealed causal pathways difficult to elucidate by other methods. Genes influence risk for CD, which, through social selection, impacts on the deviance of peers. Shared environment, through family and community processes, encourages or discourages adolescent deviant behavior, which, via social influence, alters risk for CD. Social influence is more important than social selection in childhood, but by late adolescence social selection becomes predominant. These findings have implications for prevention efforts for CD and associated externalizing disorders. PMID:17935643

  10. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  11. 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.

  12. Parent Involvement, Sibling Companionship, and Adolescent Substance Use: A Longitudinal, Genetically-Informed Design

    Science.gov (United States)

    Samek, Diana R.; Rueter, Martha A.; Keyes, Margaret A.; McGue, Matt; Iacono, William G.

    2015-01-01

    A large literature shows that parent and sibling relationship factors are associated with an increased likelihood of adolescent substance use. Less is known about the etiology of these associations. Using a genetically-informed sibling design, we examined the prospective associations between parent involvement, sibling companionship, and adolescent substance use at two points in mid- and late-adolescence. Adolescents were adopted (n = 568) or the biological offspring of both parents (n = 412). Cross-lagged panel results showed that higher levels of parent involvement in early adolescence were associated with lower levels of substance use later in adolescence. Results did not significantly differ across adoption status, suggesting this association cannot be due to passive gene-environment correlation. Adolescent substance use at Time 1 was not significantly associated with parent involvement at Time 2, suggesting this association does not appear to be solely due to evocative (i.e. “child-driven”) effects either. Together, results support a protective influence of parent involvement on subsequent adolescent substance use that is environmental in nature. The cross-paths between sibling companionship and adolescent substance use were significant and negative in direction (i.e., protective) for sisters, but positive for brothers (in line with a social contagion hypothesis). These effects were consistent across genetically related and unrelated pairs, and thus appear to be environmentally mediated. For mixed gender siblings, results were consistent with environmentally-driven, protective influence hypothesis for genetically unrelated pairs, but in line with a genetically influenced, social contagion hypothesis for genetically related pairs. Implications are discussed. PMID:26030026

  13. 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.

  14. 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......-way epistasis. Methods Such a measure is based on information gain, and is able to separate all lower order effects from pure three-way epistasis. Results Our method was verified on synthetic data and applied to real data from a candidate-gene study of tuberculosis in a West African population....... 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....

  15. 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...

  16. 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.

  17. Multiple brain atlas database and atlas-based neuroimaging system.

    Science.gov (United States)

    Nowinski, W L; Fang, A; Nguyen, B T; Raphel, J K; Jagannathan, L; Raghavan, R; Bryan, R N; Miller, G A

    1997-01-01

    For the purpose of developing multiple, complementary, fully labeled electronic brain atlases and an atlas-based neuroimaging system for analysis, quantification, and real-time manipulation of cerebral structures in two and three dimensions, we have digitized, enhanced, segmented, and labeled the following print brain atlases: Co-Planar Stereotaxic Atlas of the Human Brain by Talairach and Tournoux, Atlas for Stereotaxy of the Human Brain by Schaltenbrand and Wahren, Referentially Oriented Cerebral MRI Anatomy by Talairach and Tournoux, and Atlas of the Cerebral Sulci by Ono, Kubik, and Abernathey. Three-dimensional extensions of these atlases have been developed as well. All two- and three-dimensional atlases are mutually preregistered and may be interactively registered with an actual patient's data. An atlas-based neuroimaging system has been developed that provides support for reformatting, registration, visualization, navigation, image processing, and quantification of clinical data. The anatomical index contains about 1,000 structures and over 400 sulcal patterns. Several new applications of the brain atlas database also have been developed, supported by various technologies such as virtual reality, the Internet, and electronic publishing. Fusion of information from multiple atlases assists the user in comprehensively understanding brain structures and identifying and quantifying anatomical regions in clinical data. The multiple brain atlas database and atlas-based neuroimaging system have substantial potential impact in stereotactic neurosurgery and radiotherapy by assisting in visualization and real-time manipulation in three dimensions of anatomical structures, in quantitative neuroradiology by allowing interactive analysis of clinical data, in three-dimensional neuroeducation, and in brain function studies.

  18. Neuroimaging in pediatric traumatic head injury: diagnostic considerations and relationships to neurobehavioral outcome.

    Science.gov (United States)

    Bigler, E D

    1999-08-01

    Contemporary neuorimaging techniques in child traumatic brain injury are reviewed, with an emphasis on computerized tomography (CT) and magnetic resonance (MR) imaging. A brief overview of MR spectroscopy (MRS), functional MR imaging (fMRI), single-photon emission computed tomography (SPECT), and magnetoencephalography (MEG) is also provided because these techniques will likely constitute important neuroimaging techniques of the future. Numerous figures are provided to illustrate the multifaceted manner in which traumatic deficits can be imaged and the role of neuroimaging information as it relates to TBI outcome.

  19. 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.

  20. 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...... sets are characterized by relatively few data observations in a high dimensional space. The process of building models in such data sets often requires strong regularization. Often, the degree of model regularization is chosen in order to maximize prediction accuracy. We focus on the relative influence...... be carefully selected, so that the model and its visualization enhance our ability to interpret the brain. The second part concerns interpretation of nonlinear models and procedures for extraction of ‘brain maps’ from nonlinear kernel models. We assess the performance of the sensitivity map as means...

  1. Maternal Smoking During Pregnancy and Offspring Birth Weight: A Genetically-Informed Approach Comparing Multiple Raters

    Science.gov (United States)

    Knopik, Valerie S.; Marceau, Kristine; Palmer, Rohan H. C.; Smith, Taylor F.; Heath, Andrew C.

    2016-01-01

    Maternal smoking during pregnancy (SDP) is a significant public health concern with adverse consequences to the health and well-being of the fetus. There is considerable debate about the best method of assessing SDP, including birth/medical records, timeline follow-back approaches, multiple reporters, and biological verification (e.g., cotinine). This is particularly salient for genetically-informed approaches where it is not always possible or practical to do a prospective study starting during the prenatal period when concurrent biological specimen samples can be collected with ease. In a sample of families (N = 173) specifically selected for sibling pairs discordant for prenatal smoking exposure, we: (1) compare rates of agreement across different types of report—maternal report of SDP, paternal report of maternal SDP, and SDP contained on birth records from the Department of Vital Statistics; (2) examine whether SDP is predictive of birth weight outcomes using our best SDP report as identified via step (1); and (3) use a sibling-comparison approach that controls for genetic and familial influences that siblings share in order to assess the effects of SDP on birth weight. Results show high agreement between reporters and support the utility of retrospective report of SDP. Further, we replicate a causal association between SDP and birth weight, wherein SDP results in reduced birth weight even when accounting for genetic and familial confounding factors via a sibling comparison approach. PMID:26494459

  2. Genetic parameter estimates for carcass traits and visual scores including or not genomic information.

    Science.gov (United States)

    Gordo, D G M; Espigolan, R; Tonussi, R L; Júnior, G A F; Bresolin, T; Magalhães, A F Braga; Feitosa, F L; Baldi, F; Carvalheiro, R; Tonhati, H; de Oliveira, H N; Chardulo, L A L; de Albuquerque, L G

    2016-05-01

    CS, FP, and MS could be used as selection criteria to improve HCW, BF, and LMA. The use of genomic information permitted the detection of greater additive genetic variability for LMA and BF. For HCW, the high magnitude of the genetic correlations with visual scores was probably sufficient to recover genetic variability. The methods provided similar breeding value accuracies, especially for the visual scores.

  3. Incorporating Functional Genomic Information in Genetic Association Studies Using an Empirical Bayes Approach.

    Science.gov (United States)

    Spencer, Amy V; Cox, Angela; Lin, Wei-Yu; Easton, Douglas F; Michailidou, Kyriaki; Walters, Kevin

    2016-04-01

    There is a large amount of functional genetic data available, which can be used to inform fine-mapping association studies (in diseases with well-characterised disease pathways). Single nucleotide polymorphism (SNP) prioritization via Bayes factors is attractive because prior information can inform the effect size or the prior probability of causal association. This approach requires the specification of the effect size. If the information needed to estimate a priori the probability density for the effect sizes for causal SNPs in a genomic region isn't consistent or isn't available, then specifying a prior variance for the effect sizes is challenging. We propose both an empirical method to estimate this prior variance, and a coherent approach to using SNP-level functional data, to inform the prior probability of causal association. Through simulation we show that when ranking SNPs by our empirical Bayes factor in a fine-mapping study, the causal SNP rank is generally as high or higher than the rank using Bayes factors with other plausible values of the prior variance. Importantly, we also show that assigning SNP-specific prior probabilities of association based on expert prior functional knowledge of the disease mechanism can lead to improved causal SNPs ranks compared to ranking with identical prior probabilities of association. We demonstrate the use of our methods by applying the methods to the fine mapping of the CASP8 region of chromosome 2 using genotype data from the Collaborative Oncological Gene-Environment Study (COGS) Consortium. The data we analysed included approximately 46,000 breast cancer case and 43,000 healthy control samples. © 2016 The Authors. *Genetic Epidemiology published by Wiley Periodicals, Inc.

  4. 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.

  5. Are Aquatic Viruses a Biological Archive of Genetic Information from Universe?

    Science.gov (United States)

    Toparceanu, F.; Negoita, Gh. T.; Nita, I. I.; Sava, D.

    2009-04-01

    After 1990, when the viruses were admited as the most abundant lifeforms from aquatic environments, it became obvious that viral lysis had an essential role on release and recycling of nutrients. Studies on cellular cultures and modeling suggest that this is an important quantitative process. The viruses from oceans represent the widest source of genetic diversity on the Earth, uncharacterized yet. The ancient lifeforms records stretching back a million years are locked in ice caps. The trend of glaciers melting as effect of actual climate change will promote the release of ancient viruses from ice caps. The increasing of the freshwater layer led to the replace of some algae species by others. Law-Racovitza Station (69o23'S 76o23'E) from East Antarctica (Larsemann Hills Oasis) offers opportunities to study the Antarctic marine ecosystem, as well as archaic aquatic ecosystems from this area ( 150 lakes and waterways resulted from ice and snow melting during the austral summer). According to Law-Racovitza Station Scientific Program, we are performing studies regarding the effect of climate changes on virus-algae host relationship in these aquatic ecosystems. Phycodnaviruses, that infect the eukaryote algae, are comprised of ancient genes and they are considered a "peek" of genetic diversity useful in biological studies and exobiology regarding the evolution of genetic sequencing. The latest discoveries of the giant aquatic viruses open the unexpected perspectives for understanding the role of viral infection in global ecosystem; beyond the old concept which considered that the viruses were only etiological agents of human, animals and plants illnesses. The aquatic viruses which infect microalgae contain similar genes of other viruses, bacteria, arhebacteria and eukaryotes, all of them being on the same genome. Which is the signification of enormous abundance of viruses and excessive diversity of genetic information encoded by viruses? There is the possibility that

  6. 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.

  7. Neuroimaging in nuclear medicine: drug addicted brain

    International Nuclear Information System (INIS)

    Chung, Yong-An; Kim, Dae-Jin

    2006-01-01

    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

  8. 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

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

    Science.gov (United States)

    Bergmann, Til Ole; Karabanov, Anke; Hartwigsen, Gesa; Thielscher, Axel; Siebner, Hartwig Roman

    2016-10-15

    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 or neuronal activity patterns for a given brain function. It is nowadays feasible to combine NTBS, either consecutively or concurrently, with a variety of neuroimaging and electrophysiological techniques. Here we discuss what kind of information can be gained from combined approaches, which often 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 and "offline" NTBS effects outlasting plasticity-inducing NTBS protocols can be assessed. Finally, both strategies can be combined to close the loop between measuring and modulating brain activity by means of closed-loop brain state-dependent NTBS. In this paper, we will provide a conceptual framework, emphasizing principal strategies and highlighting promising future directions to exploit the benefits of combining NTBS with neuroimaging or electrophysiology. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  10. 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

  11. Insulin action in the human brain: evidence from neuroimaging studies.

    Science.gov (United States)

    Kullmann, S; Heni, M; Fritsche, A; Preissl, H

    2015-06-01

    Thus far, little is known about the action of insulin in the human brain. Nonetheless, recent advances in modern neuroimaging techniques, such as functional magnetic resonance imaging (fMRI) or magnetoencephalography (MEG), have made it possible to investigate the action of insulin in the brain in humans, providing new insights into the pathogenesis of brain insulin resistance and obesity. Using MEG, the clinical relevance of the action of insulin in the brain was first identified, linking cerebral insulin resistance with peripheral insulin resistance, genetic predisposition and weight loss success in obese adults. Although MEG is a suitable tool for measuring brain activity mainly in cortical areas, fMRI provides high spatial resolution for cortical as well as subcortical regions. Thus, the action of insulin can be detected within all eating behaviour relevant regions, which include regions deeply located within the brain, such as the hypothalamus, midbrain and brainstem, as well as regions within the striatum. In this review, we outline recent advances in the field of neuroimaging aiming to investigate the action of insulin in the human brain using different routes of insulin administration. fMRI studies have shown a significant insulin-induced attenuation predominantly in the occipital and prefrontal cortical regions and the hypothalamus, successfully localising insulin-sensitive brain regions in healthy, mostly normal-weight individuals. However, further studies are needed to localise brain areas affected by insulin resistance in obese individuals, which is an important prerequisite for selectively targeting brain insulin resistance in obesity. © 2015 British Society for Neuroendocrinology.

  12. 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. © 2014 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  13. 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

    ... research and to enable informed decision making by patients, caregivers, health care providers, clinical... molecular basis, including, for example, information about what the test detects and what methods the test... following items: 1. Are there any types of genetic tests that should not be included in the GTR? 2. What are...

  14. 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.

  15. 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.

  16. 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

  17. Advances on functional neuroimaging in substance misuse

    International Nuclear Information System (INIS)

    Lv Rongbin; Liu Xingdang; Han Mei

    2009-01-01

    Over the past decade, functional neuroimaging has contributed greatly to our knowledge about the neuropharmacology of substance misuse in man. In this review, discussed the application and the progress of the positron emission tomography, single photon emission computed tomography and functional magnetic resonance imaging in the substance misuse. After reading some papers, found that the dopamine transporter was significantly decreased in the brain of subjects with heroin abuse. Also observed a significant decrease of regional cerebral blood flow in bilateral cerebral frontal lobes, temporal lobes, the insula and the ipsilateral basal nuclei in substance misuse subjects. Taken together, functional images will lead the direction in future research formedication development of addiction treatment. (authors)

  18. Neuroimaging Features of San Luis Valley Syndrome

    Directory of Open Access Journals (Sweden)

    Matthew T. Whitehead

    2015-01-01

    Full Text Available A 14-month-old Hispanic female with a history of double-outlet right ventricle and developmental delay in the setting of recombinant chromosome 8 syndrome was referred for neurologic imaging. Brain MR revealed multiple abnormalities primarily affecting midline structures, including commissural dysgenesis, vermian and brainstem hypoplasia/dysplasia, an interhypothalamic adhesion, and an epidermoid between the frontal lobes that enlarged over time. Spine MR demonstrated hypoplastic C1 and C2 posterior elements, scoliosis, and a borderline low conus medullaris position. Presented herein is the first illustration of neuroimaging findings from a patient with San Luis Valley syndrome.

  19. [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.

  20. Functional neuroimaging studies of episodic memory. Functional dissociation in the medial temporal lobe structures

    International Nuclear Information System (INIS)

    Tsukiura, Takashi

    2008-01-01

    Previous functional neuroimaging studies have demonstrated the critical role of the medial temporal lobe (MTL) regions in the encoding and retrieval of episodic memory. It has also been shown that an emotional factor in human memory enhances episodic encoding and retrieval. However, there is little evidence regarding the specific contribution of each MTL region to the relational, contextual, and emotional processes of episodic memory. The goal of this review article is to identify differential activation patterns of the processes between MTL regions. Results from functional neuroimaging studies of episodic memory show that the hippocampus is involved in encoding the relation between memory items, whereas the entorhinal and perirhinal cortices (anterior parahippocampal gyrus) contribute to the encoding of a single item. Additionally, the parahippocampal cortex (posterior parahippocampal gyrus) is selectively activated during the processing of contextual information of episodic memory. A similar pattern of functional dissociation is found in episodic memory retrieval. Functional neuroimaging has also shown that emotional information of episodic memory enhances amygdala-MTL correlations and that this enhancement is observed during both the encoding and retrieval of emotional memories. These findings from pervious neuroimaging studies suggest that different MTL regions could organize memory for personally experienced episodes via the 'relation' and 'context' factors of episodic memory, and that the emotional factor of episodes could modulate the functional organization in the MTL regions. (author)

  1. 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.

  2. The language of uncertainty in genetic risk communication: framing and verbal versus numerical information.

    Science.gov (United States)

    Welkenhuysen, M; Evers-Kiebooms, G; d'Ydewalle, G

    2001-05-01

    Within a group of 300 medical students, two characteristics of risk communication in the context of a decision regarding prenatal diagnosis for cystic fibrosis are manipulated: verbal versus numerical probabilities and the negative versus positive framing of the problem (having a child with versus without cystic fibrosis). Independently of the manipulations, most students were in favor of prenatal diagnosis. The effect of framing was only significant in the conditions with verbal information: negative framing produced a stronger choice in favor of prenatal diagnosis than positive framing. The framing effect in the verbal conditions and its absence in the numerical conditions are explained by the dominance of the problem-occurrence orientation in health matters as well as a recoding process which is more likely to occur in the numerical (the probability "1-P" switches to its counterpart "P") than in the verbal conditions. The implications for the practice of genetic counseling are discussed.

  3. Selection of security system design via games of imperfect information and multi-objective genetic algorithm

    International Nuclear Information System (INIS)

    Lins, Isis Didier; Rêgo, Leandro Chaves; Moura, Márcio das Chagas

    2013-01-01

    This work analyzes the strategic interaction between a defender and an intelligent attacker by means of a game and reliability framework involving a multi-objective approach and imperfect information so as to support decision-makers in choosing efficiently designed security systems. A multi-objective genetic algorithm is used to determine the optimal security system's configurations representing the tradeoff between the probability of a successful defense and the acquisition and operational costs. Games with imperfect information are considered, in which the attacker has limited knowledge about the actual security system. The types of security alternatives are readily observable, but the number of redundancies actually implemented in each security subsystem is not known. The proposed methodology is applied to an illustrative example considering power transmission lines in the Northeast of Brazil, which are often targets for attackers who aims at selling the aluminum conductors. The empirical results show that the framework succeeds in handling this sort of strategic interaction. -- Highlights: ► Security components must have feasible costs and must be reliable. ► The optimal design of security systems considers a multi-objective approach. ► Games of imperfect information enable the choice of non-dominated configurations. ► MOGA, reliability and games support the entire defender's decision process. ► The selection of effective security systems may discourage attacker's actions

  4. Practical management of heterogeneous neuroimaging metadata by global neuroimaging data repositories.

    Science.gov (United States)

    Neu, Scott C; Crawford, Karen L; Toga, Arthur W

    2012-01-01

    Rapidly evolving neuroimaging techniques are producing unprecedented quantities of digital data at the same time that many research studies are evolving into global, multi-disciplinary collaborations between geographically distributed scientists. While networked computers have made it almost trivial to transmit data across long distances, collecting and analyzing this data requires extensive metadata if the data is to be maximally shared. Though it is typically straightforward to encode text and numerical values into files and send content between different locations, it is often difficult to attach context and implicit assumptions to the content. As the number of and geographic separation between data contributors grows to national and global scales, the heterogeneity of the collected metadata increases and conformance to a single standardization becomes implausible. Neuroimaging data repositories must then not only accumulate data but must also consolidate disparate metadata into an integrated view. In this article, using specific examples from our experiences, we demonstrate how standardization alone cannot achieve full integration of neuroimaging data from multiple heterogeneous sources and why a fundamental change in the architecture of neuroimaging data repositories is needed instead.

  5. Functional Neuroimaging of Motor Control inParkinson’s Disease

    DEFF Research Database (Denmark)

    Herz, Damian M; Eickhoff, Simon B; Løkkegaard, Annemette

    2014-01-01

    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...

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

    International Nuclear Information System (INIS)

    Ramli, N.; Rahmat, K.; Lim, K.S.; Tan, C.T.

    2015-01-01

    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

  7. 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.

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

    International Nuclear Information System (INIS)

    Stippich, Christoph

    2015-01-01

    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.

  9. 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.

  10. 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.

    2017-01-01

    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. PMID:28272299

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

    Directory of Open Access Journals (Sweden)

    Kaitlin Roke

    2017-03-01

    Full Text Available 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.

  12. 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.

  13. 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.)

  14. Neuroimaging of herpesvirus infections in children

    International Nuclear Information System (INIS)

    Baskin, Henry J.; Hedlund, Gary

    2007-01-01

    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.)

  15. Neuroimaging. Recent issues and future progresses

    International Nuclear Information System (INIS)

    Fukuyama, Hidenao

    2002-01-01

    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)

  16. 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

  17. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  18. Correlation analysis of findings from neuroimaging and histopathology in focal cortical dysplasia

    International Nuclear Information System (INIS)

    Ma Mingping; Fan Jianzhong; Jiang Zirong; Bao Qiang; Du Ruibin; Ritter, J.L.

    2009-01-01

    Objective: To characterize neuroimaging features of focal cortical dysplasia (FCD) retrospectively and correlate those with pathological findings, which may improve our understanding of neuroimaging characteristics of FCD. Methods: Clinical information and neuroimaging findings of 28 cases with FCD proved by pathology were retrospectively reviewed, and neuroimaging features of FCD were correlated with the pathological changes. Results: MRI revealed abnormal changes in 24 of 28 patients (85.7%) and no abnormalities were observed in 4 cases. Focal cortical thickening and blurring of the gray- white matter junction were the major features of FCD on MRI. Accompanied abnormal MR signals can also be observed in cortical or subcortical white matter in FCD. The radial band of hyperintensity in subcortical white matter tapering to the ventricle is one of the characteristic features of FCD on MRI. On FDG-PET examination, focal hypometabolism were revealed in 9 of 14 cases (64.3%). Histologically, cortical dyslamination was accompanied by various degrees of dysmorphic neurons and balloon cells in cortical and subcortical areas. Subcortical white matter dysmyelination and spongiotic necrotic changes were found in some cases with FCD. Conclusion: High resolution MRI can reveal most of the lesions in FCD, including abnormal changes of cortical and subcortical white matter, which makes MRI the best pre-operation examination for FCD. (authors)

  19. 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.

  20. 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

  1. Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations.

    Science.gov (United States)

    Singleton, Amanda; Erby, Lori Hamby; Foisie, Kathryn V; Kaphingst, Kimberly A

    2012-06-01

    An informed choice about health-related direct-to-consumer genetic testing (DTCGT) requires knowledge of potential benefits, risks, and limitations. To understand the information that potential consumers of DTCGT services are exposed to on company websites, we conducted a content analysis of 23 health-related DTCGT websites. Results revealed that benefit statements outweighed risk and limitation statements 6 to 1. The most frequently described benefits were: 1) disease prevention, 2) consumer education, 3) personalized medical recommendations, and 4) the ability to make health decisions. Thirty-five percent of websites also presented at least one risk of testing. Seventy-eight percent of websites mentioned at least one limitation of testing. Based on this information, potential consumers might get an inaccurate picture of genetic testing which could impact their ability to make an informed decision. Practices that enhance the presentation of balanced information on DTCGT company websites should be encouraged.

  2. 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...

  3. Owning genetic information and gene enhancement techniques: why privacy and property rights may undermine social control of the human genome.

    Science.gov (United States)

    Moore, A D

    2000-04-01

    In this article I argue that the proper subjects of intangible property claims include medical records, genetic profiles, and gene enhancement techniques. Coupled with a right to privacy these intangible property rights allow individuals a zone of control that will, in most cases, justifiably exclude governmental or societal invasions into private domains. I argue that the threshold for overriding privacy rights and intangible property rights is higher, in relation to genetic enhancement techniques and sensitive personal information, than is commonly suggested. Once the bar is raised, so-to-speak, the burden of overriding it is formidable. Thus many policy decisions that have been recently proposed or enacted--citywide audio and video surveillance, law enforcement DNA sweeps, genetic profiling, national bans on genetic testing and enhancement of humans, to name a few--will have to be backed by very strong arguments.

  4. 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…

  5. 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.

  6. The progress and clinical application of radionuclide neuroimaging

    International Nuclear Information System (INIS)

    Chen Wenxin; He Pinyu

    2008-01-01

    Development of site-specific brain radiopharmaceuticals extends the the functional neuroimaging applications in the diagnosis and monitoring treatments of various neurologic and psychiatric disorders. This article highlights recent advances and clinical applications of the functional neuroimaging in Parkinson disease, epilepsy, dementia, substance abuse, psychiatric disorders and brain functional research. (authors)

  7. Interest in and reactions to genetic risk information: The role of implicit theories and self-affirmation.

    Science.gov (United States)

    Taber, Jennifer M; Klein, William M P; Persky, Susan; Ferrer, Rebecca A; Kaufman, Annette R; Thai, Chan L; Harris, Peter R

    2017-10-01

    Implicit theories reflect core assumptions about whether human attributes are malleable or fixed: Incremental theorists believe a characteristic is malleable whereas entity theorists believe it is fixed. People with entity theories about health may be less likely to engage in risk-mitigating behavior. Spontaneous self-affirmation (e.g., reflecting on one's values when threatened) may lessen defensiveness and unhealthy behaviors associated with fixed beliefs, and reduce the likelihood of responding to health risk information with fixed beliefs. Across two studies conducted in the US from 2012 to 2015, we investigated how self-affirmation and implicit theories about health and body weight were linked to engagement with genetic risk information. In Study 1, participants in a genome sequencing trial (n = 511) completed cross-sectional assessments of implicit theories, self-affirmation, and intentions to learn, share, and use genetic information. In Study 2, overweight women (n = 197) were randomized to receive genetic or behavioral explanations for weight; participants completed surveys assessing implicit theories, self-affirmation, self-efficacy, motivation, and intentions. Fixed beliefs about weight were infrequently endorsed across studies (10.8-15.2%). In Study 1, participants with stronger fixed theories were less interested in learning and using genetic risk information about medically actionable disease; these associations were weaker among participants higher in self-affirmation. In Study 2, among participants given behavioral explanations for weight, stronger fixed theories about weight were associated with lower motivation and intentions to eat a healthy diet. Among participants given genetic explanations, being higher in self-affirmation was associated with less fixed beliefs. Stronger health-related fixed theories may decrease the likelihood of benefiting from genetic information, but less so for people who self-affirm. Published by Elsevier Ltd.

  8. 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.

  9. Pituitary gland in psychiatric disorders: a review of neuroimaging findings.

    Science.gov (United States)

    Atmaca, Murad

    2014-08-01

    In this paper, it was reviewed neuroimaging results of the pituitary gland in psychiatric disorders, particularly schizophrenia, mood disorders, anxiety disorders, and somatoform disorders. The author made internet search in detail by using PubMed database including the period between 1980 and 2012 October. It was included in the articles in English, Turkish and French languages on pituitary gland in psychiatric disorders through structural or functional neuroimaging results. After searching mentioned in the Methods section in detail, investigations were obtained on pituitary gland neuroimaging in a variety of psychiatric disorders. There have been so limited investigations on pituitary neuroimaging in psychiatric disorders including major psychiatric illnesses like schizophrenia and mood disorders. Current findings are so far from the generalizability of the results. For this reason, it is required to perform much more neuroimaging studies of pituitary gland in all psychiatric disorders to reach the diagnostic importance of measuring it.

  10. Challenging Medical-Legal Norms: The Role of Autonomy, Confidentiality and Privacy in Protecting Individual and Familial Group Rights in Genetic Information

    OpenAIRE

    Laurie, Graeme

    2001-01-01

    In this article, Laurie discusses the impact of generating genetic information, and what the consequences are of this for individuals, and family members, whose familial genetic information is shared. The authors considers who controls access to such information, the rights and interests that arise from a group claim to familial data. The competing "right to know" versus "the right not to know" are examined in relation to genetic data, along with the role of confidentiality and autonomy. Fi...

  11. Neuroimaging and obesity: current knowledge and future directions

    Science.gov (United States)

    Carnell, S.; Gibson, C.; Benson, L.; Ochner, C. N.; Geliebter, A.

    2011-01-01

    Summary Neuroimaging is becoming increasingly common in obesity research as investigators try to understand the neurological underpinnings of appetite and body weight in humans. Positron emission tomography (PET), functional magnetic resonance imaging (fMRI) and magnetic resonance imaging (MRI) studies examining responses to food intake and food cues, dopamine function and brain volume in lean vs. obese individuals are now beginning to coalesce in identifying irregularities in a range of regions implicated in reward (e.g. striatum, orbitofrontal cortex, insula), emotion and memory (e.g. amygdala, hippocampus), homeostatic regulation of intake (e.g. hypothalamus), sensory and motor processing (e.g. insula, precentral gyrus), and cognitive control and attention (e.g. prefrontal cortex, cingulate). Studies of weight change in children and adolescents, and those at high genetic risk for obesity, promise to illuminate causal processes. Studies examining specific eating behaviours (e.g. external eating, emotional eating, dietary restraint) are teaching us about the distinct neural networks that drive components of appetite, and contribute to the phenotype of body weight. Finally, innovative investigations of appetite-related hormones, including studies of abnormalities (e.g. leptin deficiency) and interventions (e.g. leptin replacement, bariatric surgery), are shedding light on the interactive relationship between gut and brain. The dynamic distributed vulnerability model of eating behaviour in obesity that we propose has scientific and practical implications. PMID:21902800

  12. Neuroimaging for drug addiction and related behaviors

    International Nuclear Information System (INIS)

    Parvaz, M.A.; Alia-Klein, N.; Woicik, P.A.; Volkow, N.D.; Goldstein, R.Z.

    2011-01-01

    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.

  13. Approach to ''Mind'' using functional neuroimaging

    International Nuclear Information System (INIS)

    Matsuda, Hiroshi

    2006-01-01

    This review mainly describes authors' recent investigations concerning neuroimages approaching to even human ''mind'' using techniques of PET, SPECT and functional MRI (fMRI). Progress of such studies greatly owes to the development of image statistics of the brain like statistical parametric mapping (www.fil.ion.ucl.ac.uk/spm/), and brain standards (www.mrc-cbu.cam.ac.uk/Imaging/mnispace.html, and ric.uthscsa.edu/projects/talairach daemon.html). The author discusses and presents images in cases of hallucinations (SPECT and H 2 15 O-PET), autism (SPECT), sleep, depression, and its therapy by transcaranial magnetic stimulation. These studies are expected to contribute to diagnosis and therapy of endogenous neurological disorders. (T.I.)

  14. Approach to ''Mind'' using functional neuroimaging

    Energy Technology Data Exchange (ETDEWEB)

    Matsuda, Hiroshi [Saitama Medical School, Hospital, Moroyama, Saitama (Japan)

    2006-05-15

    This review mainly describes authors' recent investigations concerning neuroimages approaching to even human ''mind'' using techniques of PET, SPECT and functional MRI (fMRI). Progress of such studies greatly owes to the development of image statistics of the brain like statistical parametric mapping (www.fil.ion.ucl.ac.uk/spm/), and brain standards (www.mrc-cbu.cam.ac.uk/Imaging/mnispace.html, and ric.uthscsa.edu/projects/talairach daemon.html). The author discusses and presents images in cases of hallucinations (SPECT and H{sub 2}{sup 15}O-PET), autism (SPECT), sleep, depression, and its therapy by transcaranial magnetic stimulation. These studies are expected to contribute to diagnosis and therapy of endogenous neurological disorders. (T.I.)

  15. 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.

  16. Silent stroke and advance in neuroimaging

    Energy Technology Data Exchange (ETDEWEB)

    Okada, Yasushi; Sadoshima, Seizo; Hasuo, Kanehiro; Saku, Yoshisuke; Fujishima, Masatoshi (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine)

    1990-10-01

    Recently, silent strokes are more frequently demonstrated by CT and MRI with the advance of neuroimaging. The infarcted lesions unrelated to the neurological symptoms were detected in 8, 30, 28, 34, 60, 63% of the patients with cerebral infarction in 1977-78, 1982, 1985, 1986, 1987, 1988, respectively, by CT and/or MRI, and the asymptomatic patients with incidentally diagnosed cerebral infarction were amounted to 16% (8 of 51 cases) in 1988. Of the recent 50 patients with cerebral infarction examined by CT and MRI, asymptomatic cerebrovascular lesions were detected in 25 (50%) by CT and in 35 (70%) by MRI. MRI also revealed asymptomatic old hemorrhage in 7 (14%). The clinical significance of silent stroke was discussed. (author).

  17. 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.

  18. Informed Choice in Direct-to-Consumer Genetic Testing for Alzheimer and Other Diseases: Lessons from Two Cases.

    Science.gov (United States)

    Messner, Donna A

    2011-01-01

    Health-related direct-to-consumer (DTC) genetic testing has been a controversial practice. Especially problematic is predictive testing for Alzheimer disease (AD), since the disease is incurable, prevention is inconclusive, and testing does not definitively predict an individual's future disease status. In this paper, I examine two contrasting cases of subjects who learn through genetic testing that they have an elevated risk of developing AD later in life. In these cases, the subject's emotional response to the result is related to how well prepared she was for the real-life personal implications of possible test results. Analysis leads to the conclusion that when groups of health-related genetic tests are offered as packages by DTC companies, informed consumer choice is rendered impossible. Moreover, I argue, this marketing approach contravenes U.S. Federal Trade Commission policies for non-deceptive commercial communications. I conclude by suggesting ways to improve the prospects for informed consumer choice in DTC testing.

  19. Neuroimaging of child abuse: A critical review

    Directory of Open Access Journals (Sweden)

    Heledd eHart

    2012-03-01

    Full Text Available Childhood maltreatment is a severe stressor that can lead to the development of behaviour problems and affect brain structure and function. This review summarizes the current evidence for the effects of early childhood maltreatment on behavior, cognition and the brain in adults and children. Neuropsychological studies suggest an association between child abuse and deficits in IQ, memory, executive function and emotion discrimination. Structural neuroimaging studies provide evidence for deficits in brain volume, grey and white matter of several regions, most prominently the dorsolateral and ventromedial prefrontal cortex but also hippocampus, amygdala, and corpus callosum. Diffusion tensor imaging studies show evidence for deficits in structural interregional connectivity between these areas, suggesting neural network abnormalities. Functional imaging studies support this evidence by reporting atypical activation in the same brain regions during executive function and emotion processing. There are, however, several limitations of the abuse research literature which are discussed, most prominently the lack of control for co-morbid psychiatric disorders, which make it difficult to disentangle which of the above effects are due to maltreatment, the associated psychiatric conditions or a combination or interaction between both. Overall, the better controlled studies that show a direct correlation between childhood abuse and brain measures suggest that the most prominent deficits associated with early childhood abuse are in the function and structure of lateral and ventromedial fronto-limbic brain areas and networks that mediate behavioural and affect control. Future, large scale multimodal neuroimaging studies in medication-naïve subjects, however, are needed that control for psychiatric co-morbidities in order to elucidate the structural and functional brain sequelae that are associated with early environmental adversity, independently of secondary

  20. A simple tool for neuroimaging data sharing

    Directory of Open Access Journals (Sweden)

    Christian eHaselgrove

    2014-05-01

    Full Text Available Data sharing is becoming increasingly common, but despite encouragement and facilitation by funding agencies, journals, and some research efforts, most neuroimaging data acquired today is still not shared due to political, financial, social, and technical barriers to sharing data that remain. In particular, technical solutions are few for researchers that are not a part of larger efforts with dedicated sharing infrastructures, and social barriers such as the time commitment required to share can keep data from becoming publicly available.We present a system for sharing neuroimaging data, designed to be simple to use and to provide benefit to the data provider. The system consists of a server at the International Neuroinformatics Coordinating Facility (INCF and user tools for uploading data to the server. The primary design principle for the user tools is ease of use: the user identifies a directory containing DICOM data, provides their INCF Portal authentication, and provides identifiers for the subject and imaging session. The user tool anonymizes the data and sends it to the server. The server then runs quality control routines on the data, and the data and the quality control reports are made public. The user retains control of the data and may change the sharing policy as they need. The result is that in a few minutes of the user’s time, DICOM data can be anonymized and made publicly available, and an initial quality control assessment can be performed on the data. The system is currently functional, and user tools and access to the public image database are available at http://xnat.incf.org/.

  1. Pain as a fact and heuristic: how pain neuroimaging illuminates moral dimensions of law.

    Science.gov (United States)

    Pustilnik, Amanda C

    2012-05-01

    In legal domains ranging from tort to torture, pain and its degree do important definitional work by delimiting boundaries of lawfulness and of entitlements. Yet, for all the work done by pain as a term in legal texts and practice, it has a confounding lack of external verifiability. Now, neuroimaging is rendering pain and myriad other subjective states at least partly ascertainable. This emerging ability to ascertain and quantify subjective states is prompting a "hedonic" or a "subjectivist" turn in legal scholarship, which has sparked a vigorous debate as to whether the quantification of subjective states might affect legal theory and practice. Subjectivists contend that much values-talk in law has been a necessary but poor substitute for quantitative determinations of subjective states--determinations that will be possible in the law's "experiential future." This Article argues the converse: that pain discourse in law frequently is a heuristic for values. Drawing on interviews and laboratory visits with neuroimaging researchers, this Article shows current and in-principle limitations of pain quantification through neuroimaging. It then presents case studies on torture-murder, torture, the death penalty, and abortion to show the largely heuristic role of pain discourse in law. Introducing the theory of "embodied morality," the Article describes how moral conceptions of rights and duties are informed by human physicality and constrained by the limits of empathic identification. Pain neuroimaging helps reveal this dual factual and heuristic nature of pain in the law, and thus itself points to the translational work required for neuroimaging to influence, much less transform, legal practice and doctrine.

  2. DNA Compass: a secure, client-side site for navigating personal genetic information.

    Science.gov (United States)

    Curnin, Charles; Gordon, Assaf; Erlich, Yaniv

    2017-07-15

    Millions of individuals have access to raw genomic data using direct-to-consumer companies. The advent of large-scale sequencing projects, such as the Precision Medicine Initiative, will further increase the number of individuals with access to their own genomic information. However, querying genomic data requires a computer terminal and computational skill to analyze the data-an impediment for the general public. DNA Compass is a website designed to empower the public by enabling simple navigation of personal genomic data. Users can query the status of their genomic variants for over 1658 markers or tens of millions of documented single nucleotide polymorphisms (SNPs). DNA Compass presents the relevant genotypes of the user side-by-side with explanatory scientific resources. The genotype data never leaves the user's computer, a feature that provides improved security and performance. More than 12 000 unique users, mainly from the general genetic genealogy community, have already used DNA Compass, demonstrating its utility. DNA Compass is freely available on https://compass.dna.land . yaniv@cs.columbia.edu. © The Author(s) 2017. Published by Oxford University Press.

  3. 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.

  4. Forensic genetic informativeness of an SNP panel consisting of 19 multi-allelic SNPs.

    Science.gov (United States)

    Gao, Zehua; Chen, Xiaogang; Zhao, Yuancun; Zhao, Xiaohong; Zhang, Shu; Yang, Yiwen; Wang, Yufang; Zhang, Ji

    2018-05-01

    Current research focusing on forensic personal identification, phenotype inference and ancestry information on single-nucleotide polymorphisms (SNPs) has been widely reported. In the present study, we focused on tetra-allelic SNPs in the Chinese Han population. A total of 48 tetra-allelic SNPs were screened out from the Chinese Han population of the 1000 Genomes Database, including Chinese Han in Beijing (CHB) and Chinese Han South (CHS). Considering the forensic genetic requirement for the polymorphisms, only 11 tetra-allelic SNPs with a heterozygosity >0.06 were selected for further multiplex panel construction. In order to meet the demands of personal identification and parentage identification, an additional 8 tri-allelic SNPs were combined into the final multiplex panel. To ensure application in the degraded DNA analysis, all the PCR products were designed to be 87-188 bp. Employing multiple PCR reactions and SNaPshot minisequencing, 511 unrelated Chinese Han individuals from Sichuan were genotyped. The combined match probability (CMP), combined discrimination power (CDP), and cumulative probability of exclusion (CPE) of the panel were 6.07 × 10 -11 , 0.9999999999393 and 0.996764, respectively. Based on the population data retrieved from the 1000 Genomes Project, Fst values between Chinese Han in Sichuan (SCH) and all the populations included in the 1000 Genomes Project were calculated. The results indicated that two SNPs in this panel may contain ancestry information and may be used as markers of forensic biogeographical ancestry inference. Copyright © 2018 Elsevier B.V. All rights reserved.

  5. Genetic assessments and parentage analysis of captive Bolson tortoises (Gopherus flavomarginatus inform their "rewilding" in New Mexico.

    Directory of Open Access Journals (Sweden)

    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.

  6. A Genetically Informed Cross-lagged Analysis of Autistic-Like Traits and Affective Problems in Early Childhood

    Science.gov (United States)

    Micalizzi, Lauren; Ronald, Angelica; Saudino, Kimberly J.

    2015-01-01

    A genetically informed cross-lagged model was applied to twin data to explore etiological links between autistic-like traits and affective problems in early childhood. The sample comprised 310 same-sex twin pairs (143 monozygotic and 167 dizygotic; 53% male). Autistic-like traits and affective problems were assessed at ages 2 and 3 using parent ratings. Both constructs were related within and across age (r = .30−.53) and showed moderate stability (r = .45−.54). Autistic-like traits and affective problems showed genetic and environmental influences at both ages. Whereas at age 2, the covariance between autistic-like traits and affective problems was entirely due to environmental influences (shared and nonshared), at age 3, genetic factors also contributed to the covariance between constructs. The stability paths, but not the cross-lagged paths, were significant, indicating that there is stability in both autistic-like traits and affective problems but they do not mutually influence each other across age. Stability effects were due to genetic, shared, and nonshared environmental influences. Substantial novel genetic and nonshared environmental influences emerge at age 3 and suggest change in the etiology of these constructs over time. During early childhood, autistic-like traits tend to occur alongside affective problems and partly overlapping genetic and environmental influences explain this association. PMID:26456961

  7. Does cortisol moderate the environmental association between peer victimization and depression symptoms? A genetically informed twin study.

    Science.gov (United States)

    Brendgen, Mara; Ouellet-Morin, Isabelle; Lupien, Sonia; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2017-10-01

    Many youths who are victimized by peers suffer from depression symptoms. However, not all bullying victims show depression symptoms and individuals' biological sensitivity may play an important moderating role in this regard. In line with this notion, peer victimization has been associated with increased depressive symptoms in youth with higher basal cortisol secretion. It is unclear, however, whether this moderating effect of cortisol really concerns the environmental effect of peer victimization on depression. Indeed, genetic factors can also influence individuals' environmental experiences, including peer victimization, and part of these genetic factors may be those associated with depression. Using a genetically informed design based on 159 monozygotic and 120 dizygotic twin pairs (52% girls) assessed at age 14 years, this study examined whether cortisol secretion moderates the environmental or the genetic association between peer victimization and depression symptoms. Salivary cortisol at awakening was obtained with buccal swabs during four school week days. Peer victimization and depression were assessed via self-reports. Cholesky modeling revealed that peer victimization was associated with depression symptoms via both genetic and environmental pathways. Moreover, the environmental association between peer victimization and depression symptoms steadily increased with increasing levels of morning cortisol. The genetic association between peer victimization and depression symptoms also varied, albeit less, as a function of individuals' cortisol secretion. These findings support the hypothesis that peer victimization increases internalizing psychopathology mainly in youth with heightened biological reactivity to environmental conditions. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. Mayo Alliance Prognostic Model for Myelodysplastic Syndromes: Integration of Genetic and Clinical Information.

    Science.gov (United States)

    Tefferi, Ayalew; Gangat, Naseema; Mudireddy, Mythri; Lasho, Terra L; Finke, Christy; Begna, Kebede H; Elliott, Michelle A; Al-Kali, Aref; Litzow, Mark R; Hook, C Christopher; Wolanskyj, Alexandra P; Hogan, William J; Patnaik, Mrinal M; Pardanani, Animesh; Zblewski, Darci L; He, Rong; Viswanatha, David; Hanson, Curtis A; Ketterling, Rhett P; Tang, Jih-Luh; Chou, Wen-Chien; Lin, Chien-Chin; Tsai, Cheng-Hong; Tien, Hwei-Fang; Hou, Hsin-An

    2018-06-01

    To develop a new risk model for primary myelodysplastic syndromes (MDS) that integrates information on mutations, karyotype, and clinical variables. Patients with World Health Organization-defined primary MDS seen at Mayo Clinic (MC) from December 28, 1994, through December 19, 2017, constituted the core study group. The National Taiwan University Hospital (NTUH) provided the validation cohort. Model performance, compared with the revised International Prognostic Scoring System, was assessed by Akaike information criterion and area under the curve estimates. The study group consisted of 685 molecularly annotated patients from MC (357) and NTUH (328). Multivariate analysis of the MC cohort identified monosomal karyotype (hazard ratio [HR], 5.2; 95% CI, 3.1-8.6), "non-MK abnormalities other than single/double del(5q)" (HR, 1.8; 95% CI, 1.3-2.6), RUNX1 (HR, 2.0; 95% CI, 1.2-3.1) and ASXL1 (HR, 1.7; 95% CI, 1.2-2.3) mutations, absence of SF3B1 mutations (HR, 1.6; 95% CI, 1.1-2.4), age greater than 70 years (HR, 2.2; 95% CI, 1.6-3.1), hemoglobin level less than 8 g/dL in women or less than 9 g/dL in men (HR, 2.3; 95% CI, 1.7-3.1), platelet count less than 75 × 10 9 /L (HR, 1.5; 95% CI, 1.1-2.1), and 10% or more bone marrow blasts (HR, 1.7; 95% CI, 1.1-2.8) as predictors of inferior overall survival. Based on HR-weighted risk scores, a 4-tiered Mayo alliance prognostic model for MDS was devised: low (89 patients), intermediate-1 (104), intermediate-2 (95), and high (69); respective median survivals (5-year overall survival rates) were 85 (73%), 42 (34%), 22 (7%), and 9 months (0%). The Mayo alliance model was subsequently validated by using the external NTUH cohort and, compared with the revised International Prognostic Scoring System, displayed favorable Akaike information criterion (1865 vs 1943) and area under the curve (0.87 vs 0.76) values. We propose a simple and contemporary risk model for MDS that is based on a limited set of genetic and clinical variables

  9. 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

    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......Identifying neurobiological mechanisms mediating the emergence of individual differences in behavior is critical for advancing our understanding of relative risk for psychopathology. Neuroreceptor positron emission tomography (PET) and functional magnetic resonance imaging (fMRI) can be used...

  10. Founded: Genetic Reconstruction of Lineage Diversity and Kinship Informs Ex situ Conservation of Cuban Amazon Parrots (Amazona leucocephala).

    Science.gov (United States)

    Milián-García, Yoamel; Jensen, Evelyn L; Madsen, Jeanette; Álvarez Alonso, Suleiky; Serrano Rodríguez, Aryamne; Espinosa López, Georgina; Russello, Michael A

    2015-01-01

    Captive breeding is a widespread conservation strategy, yet such programs rarely include empirical genetic data for assessing management assumptions and meeting conservation goals. Cuban Amazon parrots (Amazona leucocephala) are considered vulnerable, and multiple on-island captive populations have been established from wild-caught and confiscated individuals of unknown ancestry. Here, we used mitochondrial haplotypic and nuclear genotypic data at 9 microsatellite loci to quantify the extent and distribution of genetic variation within and among captive populations in Zapata Swamp and Managua, Cuba, and to estimate kinship among breeders (n = 88). Using Bayesian clustering analysis, we detected 2 distinct clusters within the Zapata population, one of which was shared with Managua. Individuals from the cluster unique to Zapata possessed mitochondrial haplotypes with affinities to Cuban subspecies (A. l. leucocephala, A. l. palmarum); the shared cluster was similar, but also included haplotypes closely related to the subspecies restricted to Cayman Brac (A. l. hesterna). Overall mean kinship was low within each captive population (-0.026 to -0.012), with 19 and 11 recommended breeding pairs in Zapata and Managua, respectively, ranked according to mean kinship and informed by molecular sexing. Our results highlight the importance of understanding population history within ex situ management programs, while providing genetic information to directly inform Cuban parrot conservation. © The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  11. A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems.

    Science.gov (United States)

    Araújo, Luciano V; Malkowski, Simon; Braghetto, Kelly R; Passos-Bueno, Maria R; Zatz, Mayana; Pu, Calton; Ferreira, João E

    2011-12-22

    Recent medical and biological technology advances have stimulated the development of new testing systems that have been providing huge, varied amounts of molecular and clinical data. Growing data volumes pose significant challenges for information processing systems in research centers. Additionally, the routines of genomics laboratory are typically characterized by high parallelism in testing and constant procedure changes. This paper describes a formal approach to address this challenge through the implementation of a genetic testing management system applied to human genome laboratory. We introduced the Human Genome Research Center Information System (CEGH) in Brazil, a system that is able to support constant changes in human genome testing and can provide patients updated results based on the most recent and validated genetic knowledge. Our approach uses a common repository for process planning to ensure reusability, specification, instantiation, monitoring, and execution of processes, which are defined using a relational database and rigorous control flow specifications based on process algebra (ACP). The main difference between our approach and related works is that we were able to join two important aspects: 1) process scalability achieved through relational database implementation, and 2) correctness of processes using process algebra. Furthermore, the software allows end users to define genetic testing without requiring any knowledge about business process notation or process algebra. This paper presents the CEGH information system that is a Laboratory Information Management System (LIMS) based on a formal framework to support genetic testing management for Mendelian disorder studies. We have proved the feasibility and showed usability benefits of a rigorous approach that is able to specify, validate, and perform genetic testing using easy end user interfaces.

  12. How American Nurses Association Code of Ethics informs genetic/genomic nursing.

    Science.gov (United States)

    Tluczek, Audrey; Twal, Marie E; Beamer, Laura Curr; Burton, Candace W; Darmofal, Leslie; Kracun, Mary; Zanni, Karen L; Turner, Martha

    2018-01-01

    Members of the Ethics and Public Policy Committee of the International Society of Nurses in Genetics prepared this article to assist nurses in interpreting the American Nurses Association (2015) Code of Ethics for Nurses with Interpretive Statements (Code) within the context of genetics/genomics. The Code explicates the nursing profession's norms and responsibilities in managing ethical issues. The nearly ubiquitous application of genetic/genomic technologies in healthcare poses unique ethical challenges for nursing. Therefore, authors conducted literature searches that drew from various professional resources to elucidate implications of the code in genetic/genomic nursing practice, education, research, and public policy. We contend that the revised Code coupled with the application of genomic technologies to healthcare creates moral obligations for nurses to continually refresh their knowledge and capacities to translate genetic/genomic research into evidence-based practice, assure the ethical conduct of scientific inquiry, and continually develop or revise national/international guidelines that protect the rights of individuals and populations within the context of genetics/genomics. Thus, nurses have an ethical responsibility to remain knowledgeable about advances in genetics/genomics and incorporate emergent evidence into their work.

  13. Neuroimaging in dementia and Alzheimer's disease: Current protocols and practice in the Republic of Ireland

    International Nuclear Information System (INIS)

    Kelly, I.; Butler, M.-L.; Ciblis, A.; McNulty, J.P.

    2016-01-01

    Introduction: Neuroimaging plays an essential supportive role in the diagnosis of dementia, assisting in establishing the dementia subtype(s). This has significant value in both treatment and care decisions and has important implications for prognosis. This study aims to explore the development and nature of neuroimaging protocols currently used in the assessment of dementia and Alzheimer's disease (AD). Methods: An online questionnaire was designed and distributed to lead radiography personnel working in computed tomography (CT), magnetic resonance imaging (MRI) and positron emission tomography (PET) departments (n = 94) in both hospital-based and out-patient imaging centres in the Republic of Ireland. Results: Response rates for each modality ranged from 42 to 44%. CT, MRI, and PET were used to specifically diagnose dementia or AD by 43%, 40% and 50% of responding centres respectively. Of these, dementia-specific neuroimaging protocols were utilised in 33%, 50% and 100% of CT, MRI and PET centres respectively, with the remainder using either standard or other non-specific protocols. Both radiologists and clinical specialist radiographers participated in the development of the majority of protocols. The Royal College of Radiologists (RCR) guidelines were most commonly referenced as informing protocol development, however, none of the MRI respondents were able to identify any guidelines used to inform MR protocol development. Conclusion: Currently there is no consensus in Ireland on optimal dementia/AD neuroimaging protocols, particularly for PET and MRI. Similarly the use of validated and published guidelines to inform protocols is not universal. - Highlights: • We examined the nature of neuroimaging protocols for dementia and Alzheimer's disease in Ireland. • Dementia or Alzheimer's disease-specific protocols were used by between 33 and 100% of centres depending on modality. • Stated dementia-specific protocols were identical for CT whereas

  14. Mathematical modeling of erythrocyte chimerism informs genetic intervention strategies for sickle cell disease.

    Science.gov (United States)

    Altrock, Philipp M; Brendel, Christian; Renella, Raffaele; Orkin, Stuart H; Williams, David A; Michor, Franziska

    2016-09-01

    Recent advances in gene therapy and genome-engineering technologies offer the opportunity to correct sickle cell disease (SCD), a heritable disorder caused by a point mutation in the β-globin gene. The developmental switch from fetal γ-globin to adult β-globin is governed in part by the transcription factor (TF) BCL11A. This TF has been proposed as a therapeutic target for reactivation of γ-globin and concomitant reduction of β-sickle globin. In this and other approaches, genetic alteration of a portion of the hematopoietic stem cell (HSC) compartment leads to a mixture of sickling and corrected red blood cells (RBCs) in periphery. To reverse the sickling phenotype, a certain proportion of corrected RBCs is necessary; the degree of HSC alteration required to achieve a desired fraction of corrected RBCs remains unknown. To address this issue, we developed a mathematical model describing aging and survival of sickle-susceptible and normal RBCs; the former can have a selective survival advantage leading to their overrepresentation. We identified the level of bone marrow chimerism required for successful stem cell-based gene therapies in SCD. Our findings were further informed using an experimental mouse model, where we transplanted mixtures of Berkeley SCD and normal murine bone marrow cells to establish chimeric grafts in murine hosts. Our integrative theoretical and experimental approach identifies the target frequency of HSC alterations required for effective treatment of sickling syndromes in humans. Our work replaces episodic observations of such target frequencies with a mathematical modeling framework that covers a large and continuous spectrum of chimerism conditions. Am. J. Hematol. 91:931-937, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Improved weight management using genetic information to personalize a calorie controlled diet

    Directory of Open Access Journals (Sweden)

    Florou Anna

    2007-10-01

    Full Text Available Abstract Background Gene-environment studies demonstrate variability in nutrient requirements depending upon individual variations in genes affecting nutrient metabolism and transport. This study investigated whether the inclusion of genetic information to personalize a patient's diet (nutrigenetics could improve long term weight management. Methods Patients with a history of failures at weight loss were offered a nutrigenetic test screening 24 variants in 19 genes involved in metabolism. 50 patients were in the nutrigenetic group and 43 patients attending the same clinic were selected for comparison using algorithms to match the characteristics: age, sex, frequency of clinical visits and BMI at initial clinic visit. The second group of 43 patients did not receive a nutrigenetic test. BMI reduction at 100 and > 300 days and blood fasting glucose were measured. Results After 300 days of follow-up individuals in the nutrigenetic group were more likely to have maintained some weight loss (73% than those in the comparison group (32%, resulting in an age and gender adjusted OR of 5.74 (95% CI 1.74–22.52. Average BMI reduction in the nutrigenetic group was 1.93 kg/m2(5.6% loss vs. an average BMI gain of 0.51 kg/m2(2.2% gain (p 100 mg/dL, 57% (17/30 of the nutrigenetic group but only 25% (4/16 of the non-tested group had levels reduced to 90 days of weight management therapy (OR for lowering glucose to Conclusion Addition of nutrigenetically tailored diets resulted in better compliance, longer-term BMI reduction and improvements in blood glucose levels.

  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. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.

    Science.gov (United States)

    Bradbury, Angela R; Patrick-Miller, Linda; Long, Jessica; Powers, Jacquelyn; Stopfer, Jill; Forman, Andrea; Rybak, Christina; Mattie, Kristin; Brandt, Amanda; Chambers, Rachelle; Chung, Wendy K; Churpek, Jane; Daly, Mary B; Digiovanni, Laura; Farengo-Clark, Dana; Fetzer, Dominique; Ganschow, Pamela; Grana, Generosa; Gulden, Cassandra; Hall, Michael; Kohler, Lynne; Maxwell, Kara; Merrill, Shana; Montgomery, Susan; Mueller, Rebecca; Nielsen, Sarah; Olopade, Olufunmilayo; Rainey, Kimberly; Seelaus, Christina; Nathanson, Katherine L; Domchek, Susan M

    2015-06-01

    Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.

  18. 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.

  19. The 'wet mind': water and functional neuroimaging

    International Nuclear Information System (INIS)

    Le Bihan, Denis

    2007-01-01

    Functional neuroimaging has emerged as an important approach to study the brain and the mind. Surprisingly, although they are based on radically different physical approaches both positron emission tomography (PET) and magnetic resonance imaging (MRI) make brain activation imaging possible through measurements involving water molecules. So far, PET and MRI functional imaging have relied on the principle that neuronal activation and blood flow are coupled through metabolism. However, a new paradigm has emerged to look at brain activity through the observation with MRI of the molecular diffusion of water. In contrast with the former approaches diffusion MRI has the potential to reveal changes in the intrinsic water physical properties during brain activation, which could be more intimately linked to the neuronal activation mechanisms and lead to an improved spatial and temporal resolution. However, this link has yet to be fully confirmed and understood. To shed light on the possible relationship between water and brain activation, this introductory paper reviews the most recent data on the physical properties of water and on the status of water in biological tissues, and evaluates their relevance to brain diffusion MRI. The biophysical mechanisms of brain activation are then reassessed to reveal their intimacy with the physical properties of water, which may come to be regarded as the 'molecule of the mind'. (invited topical review)

  20. Neuroimaging studies in people with gender incongruence.

    Science.gov (United States)

    Kreukels, Baudewijntje P C; Guillamon, Antonio

    2016-01-01

    The current review gives an overview of brain studies in transgender people. First, we describe studies into the aetiology of feelings of gender incongruence, primarily addressing the sexual differentiation hypothesis: does the brain of transgender individuals resemble that of their natal sex, or that of their experienced gender? Findings from neuroimaging studies focusing on brain structure suggest that the brain phenotypes of trans women (MtF) and trans men (FtM) differ in various ways from control men and women with feminine, masculine, demasculinized and defeminized features. The brain phenotypes of people with feelings of gender incongruence may help us to figure out whether sex differentiation of the brain is atypical in these individuals, and shed light on gender identity development. Task-related imaging studies may show whether brain activation and task performance in transgender people is sex-atypical. Second, we review studies that evaluate the effects of cross-sex hormone treatment on the brain. This type of research provides knowledge on how changes in sex hormone levels may affect brain structure and function.

  1. 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)

  2. 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. Copyright © 2012 Elsevier Ltd. All rights reserved.

  3. 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.

  4. 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. PMID:26294108

  5. The experience of art: insights from neuroimaging.

    Science.gov (United States)

    Nadal, Marcos

    2013-01-01

    The experience of art is a complex one. It emerges from the interaction of multiple cognitive and affective processes. Neuropsychological and neuroimaging studies are revealing the broadly distributed network of brain regions upon which it relies. This network can be divided into three functional components: (i) prefrontal, parietal, and temporal cortical regions support evaluative judgment, attentional processing, and memory retrieval; (ii) the reward circuit, including cortical, subcortical regions, and some of its regulators, is involved in the generation of pleasurable feelings and emotions, and the valuation and anticipation of reward; and (iii) attentional modulation of activity in low-, mid-, and high-level cortical sensory regions enhances the perceptual processing of certain features, relations, locations, or objects. Understanding how these regions act in concert to produce unique and moving art experiences and determining the impact of personal and cultural meaning and context on this network the biological foundation of the experience of art--remain future challenges. © 2013 Elsevier B.V. All rights reserved.

  6. 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.

  7. Development of a Laboratory Information Management System for Medical Genetic Investigations (LIMS)

    OpenAIRE

    Albers, K.

    2006-01-01

    Studying the genetic factor underlying a set of diseases with modern high- throughput techniques generates huge amounts of data, posing a challenge for data management. In this thesis a database management system called FIDB based on MySQL was developed to handle clinical and experimental genetic data. For the convenience of the users, a web interface was developed to insert, update, delete and display the data. In addition security aspects were taken care of. Currently FIDB is able to organi...

  8. Using actual and ultrasound carcass information in beef genetic evaluation programs

    OpenAIRE

    Bertrand,Joseph Keith

    2009-01-01

    Increased movement toward alliances and grid pricing in the U.S. has led to an increase interest in genetic values for carcass traits. The literature suggests that carcass genetic values are an effective tool to enhance selection for carcass traits, and that it is possible to select sires within a breed that can increase marbling score without adversely affecting external fat thickness or percent retail product relative to the breed mean. Ultrasound has been investigated as a cheaper means of...

  9. Dissecting genetic architecture of startle response in Drosophila melanogaster using multi-omics information.

    Science.gov (United States)

    Xue, Angli; Wang, Hongcheng; Zhu, Jun

    2017-09-28

    Startle behavior is important for survival, and abnormal startle responses are related to several neurological diseases. Drosophila melanogaster provides a powerful system to investigate the genetic underpinnings of variation in startle behavior. Since mechanically induced, startle responses and environmental conditions can be readily quantified and precisely controlled. The 156 wild-derived fully sequenced lines of the Drosophila Genetic Reference Panel (DGRP) were used to identify SNPs and transcripts associated with variation in startle behavior. The results validated highly significant effects of 33 quantitative trait SNPs (QTSs) and 81 quantitative trait transcripts (QTTs) directly associated with phenotypic variation of startle response. We also detected QTT variation controlled by 20 QTSs (tQTSs) and 73 transcripts (tQTTs). Association mapping based on genomic and transcriptomic data enabled us to construct a complex genetic network that underlies variation in startle behavior. Based on principles of evolutionary conservation, human orthologous genes could be superimposed on this network. This study provided both genetic and biological insights into the variation of startle response behavior of Drosophila melanogaster, and highlighted the importance of genetic network to understand the genetic architecture of complex traits.

  10. 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.

  11. Structural neuroimaging in neuropsychology: History and contemporary applications.

    Science.gov (United States)

    Bigler, Erin D

    2017-11-01

    Neuropsychology's origins began long before there were any in vivo methods to image the brain. That changed with the advent of computed tomography in the 1970s and magnetic resonance imaging in the early 1980s. Now computed tomography and magnetic resonance imaging are routinely a part of neuropsychological investigations with an increasing number of sophisticated methods for image analysis. This review examines the history of neuroimaging utilization in neuropsychological investigations, highlighting the basic methods that go into image quantification and the various metrics that can be derived. Neuroimaging methods and limitations for identify what constitutes a lesion are discussed. Likewise, the influence of various demographic and developmental factors that influence quantification of brain structure are reviewed. Neuroimaging is an integral part of 21st Century neuropsychology. The importance of neuroimaging to advancing neuropsychology is emphasized. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  12. Terminology development towards harmonizing multiple clinical neuroimaging research repositories.

    Science.gov (United States)

    Turner, Jessica A; Pasquerello, Danielle; Turner, Matthew D; Keator, David B; Alpert, Kathryn; King, Margaret; Landis, Drew; Calhoun, Vince D; Potkin, Steven G; Tallis, Marcelo; Ambite, Jose Luis; Wang, Lei

    2015-07-01

    Data sharing and mediation across disparate neuroimaging repositories requires extensive effort to ensure that the different domains of data types are referred to by commonly agreed upon terms. Within the SchizConnect project, which enables querying across decentralized databases of neuroimaging, clinical, and cognitive data from various studies of schizophrenia, we developed a model for each data domain, identified common usable terms that could be agreed upon across the repositories, and linked them to standard ontological terms where possible. We had the goal of facilitating both the current user experience in querying and future automated computations and reasoning regarding the data. We found that existing terminologies are incomplete for these purposes, even with the history of neuroimaging data sharing in the field; and we provide a model for efforts focused on querying multiple clinical neuroimaging repositories.

  13. 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...

  14. 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.

  15. 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 i......-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....

  16. Generic Science Skills Enhancement of Students through Implementation of IDEAL Problem Solving Model on Genetic Information Course

    Science.gov (United States)

    Zirconia, A.; Supriyanti, F. M. T.; Supriatna, A.

    2018-04-01

    This study aims to determine generic science skills enhancement of students through implementation of IDEAL problem-solving model on genetic information course. Method of this research was mixed method, with pretest-posttest nonequivalent control group design. Subjects of this study were chemistry students enrolled in biochemistry course, consisted of 22 students in the experimental class and 19 students in control class. The instrument in this study was essayed involves 6 indicators generic science skills such as indirect observation, causality thinking, logical frame, self-consistent thinking, symbolic language, and developing concept. The results showed that genetic information course using IDEAL problem-solving model have been enhancing generic science skills in low category with of 20,93%. Based on result for each indicator, showed that there are indicators of generic science skills classified in the high category.

  17. Neuropsychological and neuroimaging underpinnings of schizoaffective disorder: a systematic review.

    Science.gov (United States)

    Madre, M; Canales-Rodríguez, E J; Ortiz-Gil, J; Murru, A; Torrent, C; Bramon, E; Perez, V; Orth, M; Brambilla, P; Vieta, E; Amann, B L

    2016-07-01

    The neurobiological basis and nosological status of schizoaffective disorder remains elusive and controversial. This study provides a systematic review of neurocognitive and neuroimaging findings in the disorder. A comprehensive literature search was conducted via PubMed, ScienceDirect, Scopus and Web of Knowledge (from 1949 to 31st March 2015) using the keyword 'schizoaffective disorder' and any of the following terms: 'neuropsychology', 'cognition', 'structural neuroimaging', 'functional neuroimaging', 'multimodal', 'DTI' and 'VBM'. Only studies that explicitly examined a well defined sample, or subsample, of patients with schizoaffective disorder were included. Twenty-two of 43 neuropsychological and 19 of 51 neuroimaging articles fulfilled inclusion criteria. We found a general trend towards schizophrenia and schizoaffective disorder being related to worse cognitive performance than bipolar disorder. Grey matter volume loss in schizoaffective disorder is also more comparable to schizophrenia than to bipolar disorder which seems consistent across further neuroimaging techniques. Neurocognitive and neuroimaging abnormalities in schizoaffective disorder resemble more schizophrenia than bipolar disorder. This is suggestive for schizoaffective disorder being a subtype of schizophrenia or being part of the continuum spectrum model of psychosis, with schizoaffective disorder being more skewed towards schizophrenia than bipolar disorder. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. 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.

  19. Neural, cognitive, and neuroimaging markers of the suicidal brain

    Directory of Open Access Journals (Sweden)

    Sobanski T

    2015-05-01

    Full Text Available Thomas Sobanski,1 Karl-Jürgen Bär,2 Gerd Wagner2 1Department of Psychiatry, Psychotherapy and Psychosomatic Medicine, Thüringen-Kliniken "Georgius Agricola" GmbH, Saalfeld, Germany; 2Department of Psychiatry and Psychotherapy, Psychiatric Brain and Body Research Group Jena, Jena University Hospital, Jena, GermanyAbstract: Suicidal behavior (SB is characterized by the occurrence of suicide attempts with substantial intent to die. SB is a major health problem worldwide. In the great majority of cases, SB occurs in patients suffering from psychiatric disorders, mainly from affective disorders or schizophrenia. Despite this high association, there is growing evidence from genetic studies that SB might represent a psychiatric condition on its own. This review provides an overview of the most significant neurobiological and neurocognitive findings in SB. We provide evidence for specific dysfunctions within the serotonergic system, for distinct morphological abnormalities in the gray and white matter composition as well as for neurofunctional alterations in the fronto-striatal network. Additionally, the putative role of impulsivity and hopelessness as trait-like risk factors for SB is outlined. Both the personality traits are associated with altered prefrontal cortex function and deficits in cognitive and affective control similar to the findings in SB. Given the difficulties of clinical risk assessment, there is a need to identify specific markers that can predict SB more reliably. Some recent neurocognitive and functional/structural neuroimaging findings might be appropriate to use as SB indicators in the close future.Keywords: suicidal behavior, biological markers, serotonin, hopelessness, impulsivity, major depressive disorder, fMRI, PET, SPECT

  20. Temperament and character associated with depressive symptoms in women: analysis of two genetically informative samples.

    Science.gov (United States)

    Yuh, Jongil; Neiderhiser, Jenae M; Lichtenstein, Paul; Hansson, Kjell; Cederblad, Marianne; Elthammer, Olle; Reiss, David

    2009-09-01

    Although previous research has explored associations between personality and depressive symptoms, a limited number of studies have assessed the extent to which genetic and environmental influences explain the association. This study investigated how temperament and character were associated with depressive symptoms in 131 pairs of twin and sibling women in early adulthood, as well as 326 pairs of twin women in middle adulthood. Results indicated that genetic influences accounted for a moderate to substantial percentage of the association between these personality features and depressive symptoms, emphasizing the role of genetic influences. Nonshared environmental influences made important contributions to the association between character and depressive symptoms, particularly in the sample of middle-aged twin women. These findings suggest that unique social experiences and relationships with a partner in adulthood may play an important role in these associations between character and depressive symptoms.

  1. Development, applications and distribution of DNA markers for genetic information for sorghum and maize improvement

    International Nuclear Information System (INIS)

    Lee, M.

    2001-01-01

    This final report summarizes the progress made towards the enhancement and distribution of genetic resources (e.g. genetic stocks, seed and DNA clones) used for basic and applied aspects of the genetic improvement of maize and sorghum. The genetic maps of maize and sorghum were improved through comparative mapping of RFLP loci detected by 124 maize cDNA clones and through the development of a new mapping population of maize. Comparative mapping between maize and sorghum and maize and rice, using the set of 124 maize cDNA clones (and other clones) in each study, substantiated previous observations of extensive conservation of locus order but it also provided strong evidence of numerous large-scale chromosomal rearrangements. The new mapping population for maize (intermated B73xMo17, 'IBM') was created by random intermating during the first segregating generation. Intermating for four generations prior to the derivation of recombinant inbred lines (RILs) increased the frequency of recombinants at many regions of the maize genome and provided better genetic resolution of locus order. Expansion of the maize genetic map was not uniform along the length of a linkage group and was less than the theoretical expectation. The 350 IBM RILs were genotyped at 512 loci detected by DNA clones, including 76 of the 124 supported by this contract. The production of the sorghum mapping population of RILs from the cross CK60xPI229828 has been delayed by weather conditions that were not conducive to plant growth and seed development. Seed of the IBM RILs have been distributed (approximately 5000 RILs in total) to 16 research organizations in the public and private sector. The DNA clones have been distributed (1,206 in total) to nine research labs. Further distribution of the seed and clones will be managed by curators at stock centers in the public domain. (author)

  2. The Genetics, Neurogenetics and Pharmacogenetics of Addiction.

    Science.gov (United States)

    Demers, Catherine H; Bogdan, Ryan; Agrawal, Arpana

    2014-03-01

    Addictions are prevalent psychiatric disorders that confer remarkable personal and social burden. Despite substantial evidence for their moderate, yet robust, heritability (approx. 50%), specific genetic mechanisms underlying their development and maintenance remain unclear. The goal of this selective review is to highlight progress in unveiling the genetic underpinnings of addiction. First, we revisit the basis for heritable variation in addiction before reviewing the most replicable candidate gene findings and emerging signals from genomewide association studies for alcohol, nicotine and cannabis addictions. Second, we survey the modest but growing field of neurogenetics examining how genetic variation influences corticostriatal structure, function, and connectivity to identify neural mechanisms that may underlie associations between genetic variation and addiction. Third, we outline how extant genomic findings are being used to develop and refine pharmacotherapies. Finally, as sample sizes for genetically informed studies of addiction approach critical mass, we posit five exciting possibilities that may propel further discovery (improved phenotyping, rare variant discovery, gene-environment interplay, epigenetics, and novel neuroimaging designs).

  3. Neuroimaging of person perception: A social-visual interface.

    Science.gov (United States)

    Brooks, Jeffrey A; Freeman, Jonathan B

    2017-12-21

    The visual system is able to extract an enormous amount of socially relevant information from the face, including social categories, personality traits, and emotion. While facial features may be directly tied to certain perceptions, emerging research suggests that top-down social cognitive factors (e.g., stereotypes, social-conceptual knowledge, prejudice) considerably influence and shape the perceptual process. The rapid integration of higher-order social cognitive processes into visual perception can give rise to systematic biases in face perception and may potentially act as a mediating factor for intergroup behavioral and evaluative biases. Drawing on neuroimaging evidence, we review the ways that top-down social cognitive factors shape visual perception of facial features. This emerging work in social and affective neuroscience builds upon work on predictive coding and perceptual priors in cognitive neuroscience and visual cognition, suggesting domain-general mechanisms that underlie a social-visual interface through which social cognition affects visual perception. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. 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

    for these developmental and plastic processes during the transition from adolescence into adulthood. Tourette syndrome (TS), defined as the chronic presence of motor and vocal tics, has been increasingly conceptualized as a disorder of impaired self-regulatory control. This disordered control is thought to give rise...... 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...... influencing the phenotype, illness severity, and adult outcome of tic disorders. Similar developmental processes during adolescence likely determine the phenotype and natural history of a broad range of other complex neuropsychiatric disorders of childhood onset, and they likely contribute to the acquisition...

  5. 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...

  6. Genetic differentiation of chinese indigenous meat goats ascertained using microsatellite information.

    Science.gov (United States)

    Ling, Y H; Zhang, X D; Yao, N; Ding, J P; Chen, H Q; Zhang, Z J; Zhang, Y H; Ren, C H; Ma, Y H; Zhang, X R

    2012-02-01

    To investigate the genetic diversity of seven Chinese indigenous meat goat breeds (Tibet goat, Guizhou white goat, Shannan white goat, Yichang white goat, Matou goat, Changjiangsanjiaozhou white goat and Anhui white goat), explain their genetic relationship and assess their integrity and degree of admixture, 302 individuals from these breeds and 42 Boer goats introduced from Africa as reference samples were genotyped for 11 microsatellite markers. Results indicated that the genetic diversity of Chinese indigenous meat goats was rich. The mean heterozygosity and the mean allelic richness (AR) for the 8 goat breeds varied from 0.697 to 0.738 and 6.21 to 7.35, respectively. Structure analysis showed that Tibet goat breed was genetically distinct and was the first to separate and the other Chinese goats were then divided into two sub-clusters: Shannan white goat and Yichang white goat in one cluster; and Guizhou white goat, Matou goat, Changjiangsanjiaozhou white goat and Anhui white goat in the other cluster. This grouping pattern was further supported by clustering analysis and Principal component analysis. These results may provide a scientific basis for the characteristization, conservation and utilization of Chinese meat goats.

  7. Genetic variance partitioning and genome-wide prediction with allele dosage information in autotetraploid potato

    Science.gov (United States)

    Potato breeding cycles typically last 6-7 years because of the modest seed multiplication rate and large number of traits required of new varieties. Genomic selection has the potential to increase genetic gain per unit of time, through higher accuracy and/or a shorter cycle. Both possibilities were ...

  8. The information value of non-genetic inheritance in plants and animals

    NARCIS (Netherlands)

    English, Sinead; Pen, Ido; Shea, Nicholas; Uller, Tobias

    2015-01-01

    Parents influence the development of their offspring in many ways beyond the transmission of DNA. This includes transfer of epigenetic states, nutrients, antibodies and hormones, and behavioural interactions after birth. While the evolutionary consequences of such non-genetic inheritance are

  9. Is the statistic value all we should care about in neuroimaging?

    Science.gov (United States)

    Chen, Gang; Taylor, Paul A; Cox, Robert W

    2017-02-15

    Here we address an important issue that has been embedded within the neuroimaging community for a long time: the absence of effect estimates in results reporting in the literature. The statistic value itself, as a dimensionless measure, does not provide information on the biophysical interpretation of a study, and it certainly does not represent the whole picture of a study. Unfortunately, in contrast to standard practice in most scientific fields, effect (or amplitude) estimates are usually not provided in most results reporting in the current neuroimaging publications and presentations. Possible reasons underlying this general trend include (1) lack of general awareness, (2) software limitations, (3) inaccurate estimation of the BOLD response, and (4) poor modeling due to our relatively limited understanding of FMRI signal components. However, as we discuss here, such reporting damages the reliability and interpretability of the scientific findings themselves, and there is in fact no overwhelming reason for such a practice to persist. In order to promote meaningful interpretation, cross validation, reproducibility, meta and power analyses in neuroimaging, we strongly suggest that, as part of good scientific practice, effect estimates should be reported together with their corresponding statistic values. We provide several easily adaptable recommendations for facilitating this process. Published by Elsevier Inc.

  10. 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.

    2016-01-01

    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 are extensive evidences 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

  11. Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.

    Science.gov (United States)

    Bergner, Amanda L; Bollinger, Juli; Raraigh, Karen S; Tichnell, Crystal; Murray, Brittney; Blout, Carrie Lynn; Telegrafi, Aida Bytyci; James, Cynthia A

    2014-11-01

    Genomic sequencing technology is increasingly used in genetic research. Studies of informed consent for exome and genome sequencing (ES/GS) research have largely involved hypothetical scenarios or healthy individuals enrolling in population-based studies. Studies have yet to explore the consent experiences of adults with inherited disease. We conducted a qualitative interview study of 15 adults recently enrolled in a large-scale ES/GS study (11 affected adults, four parents of affected children). Our study had two goals: (1) to explore three theoretical barriers to consent for ES/GS research (interpretive/technical complexity, possibility of incidental findings, and risks of loss of privacy); and (2) to explore how interviewees experienced the consent process. Interviewees could articulate study goals and processes, describe incidental findings, discuss risks of privacy loss, and reflect on their consent experience. Few expected the study would identify the genetic cause of their condition. All elected to receive incidental findings. Interviewees acknowledged paying little attention to potential implications of incidental findings in light of more pressing goals of supporting research regarding their own medical conditions. Interviewees suggested that experience living with a genetic condition prepared them to adjust to incidental findings. Interviewees also expressed little concern about loss of confidentiality of study data. Some experienced the consent process as very long. None desired reconsent prior to return of study results. Families with inherited disease likely would benefit from a consent process in which study risks and benefits were discussed in the context of prior experiences with genetic research and genetic disease. © 2014 Wiley Periodicals, Inc.

  12. Genetic and environmental contributions to anxiety among Chinese children and adolescents--a multi-informant twin study.

    Science.gov (United States)

    Chen, Jie; Yu, Jing; Li, Xinying; Zhang, Jianxin

    2015-05-01

    Child and adolescent anxiety has become a major public health concern in China, but little was known about the etiology of anxiety in Chinese children and adolescents. The present study aimed to investigate genetic and environmental influences on trait anxiety among Chinese children and adolescents. Rater, sex, and age differences on these estimates were also examined. Self-reported and parent-reported child's trait anxiety was collected from 1,104 pairs of same-sex twins aged 9-18 years. Genetic models were fitted to data from each informant to determine the genetic (A), shared (C), and non-shared environmental (E) influences on trait anxiety. The parameter estimates and 95% confidence intervals (CI) of A, C, E on self-reported trait anxiety were 50% [30%, 60%], 5% [0%, 24%], 45% [40%, 49%]. For parent-reported data, the corresponding parameter estimates were 63% [47%, 78%], 13% [1%, 28%], and 24% [22%, 27%], respectively. The heritability of anxiety was higher in girls for self-reported data, but higher in boys for parent-reported data. There was no significant age difference in genetic and environmental contributions for self-reported data, but a significant increase of heritability with age for parent-reported data. The trait anxiety in Chinese children and adolescents was highly heritable. Non-shared environmental factors also played an important role. The estimates of genetic and environmental effects differed by rater, sex and age. Our findings largely suggest the cross-cultural generalizability of the etiological model of child and adolescent anxiety. © 2014 Association for Child and Adolescent Mental Health.

  13. 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.

  14. Unstructured Socializing with Peers and Delinquent Behavior: A Genetically Informed Analysis.

    Science.gov (United States)

    Meldrum, Ryan C; Barnes, J C

    2017-09-01

    A large body of research finds that unstructured socializing with peers is positively associated with delinquency during adolescence. Yet, existing research has not ruled out the potential for confounding due to genetic factors and factors that can be traced to environments shared between siblings. To fill this void, the current study examines whether the association between unstructured socializing with peers and delinquent behavior remains when accounting for genetic factors, shared environmental influences, and a variety of non-shared environmental covariates. We do so by using data from the twin subsample of the National Longitudinal Study of Adolescent to Adult Health (n = 1200 at wave 1 and 1103 at wave 2; 51% male; mean age at wave 1 = 15.63). Results from both cross-sectional and lagged models indicate the association between unstructured socializing with peers and delinquent behavior remains when controlling for both genetic and environmental influences. Supplementary analyses examining the association under different specifications offer additional, albeit qualified, evidence supportive of this finding. The study concludes with a discussion highlighting the importance of limiting free time with friends in the absence of authority figures as a strategy for reducing delinquency during adolescence.

  15. 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

  16. A pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling.

    NARCIS (Netherlands)

    Albada, A.; Dulmen, S. van; Lindhout, D.; Bensing, J.M.; Ausems, M.G.E.M.

    2012-01-01

    Counselees who are the first in their family to request breast cancer genetic counselling often don't know what to expect or have unrealistic expectations of genetic counselling. Receiving tailored information might help them to prepare for their first visit. We conducted a study of the effects of a

  17. Functional neuroimaging insights into the physiology of human sleep.

    Science.gov (United States)

    Dang-Vu, Thien Thanh; Schabus, Manuel; Desseilles, Martin; Sterpenich, Virginie; Bonjean, Maxime; Maquet, Pierre

    2010-12-01

    Functional brain imaging has been used in humans to noninvasively investigate the neural mechanisms underlying the generation of sleep stages. On the one hand, REM sleep has been associated with the activation of the pons, thalamus, limbic areas, and temporo-occipital cortices, and the deactivation of prefrontal areas, in line with theories of REM sleep generation and dreaming properties. On the other hand, during non-REM (NREM) sleep, decreases in brain activity have been consistently found in the brainstem, thalamus, and in several cortical areas including the medial prefrontal cortex (MPFC), in agreement with a homeostatic need for brain energy recovery. Benefiting from a better temporal resolution, more recent studies have characterized the brain activations related to phasic events within specific sleep stages. In particular, they have demonstrated that NREM sleep oscillations (spindles and slow waves) are indeed associated with increases in brain activity in specific subcortical and cortical areas involved in the generation or modulation of these waves. These data highlight that, even during NREM sleep, brain activity is increased, yet regionally specific and transient. Besides refining the understanding of sleep mechanisms, functional brain imaging has also advanced the description of the functional properties of sleep. For instance, it has been shown that the sleeping brain is still able to process external information and even detect the pertinence of its content. The relationship between sleep and memory has also been refined using neuroimaging, demonstrating post-learning reactivation during sleep, as well as the reorganization of memory representation on the systems level, sometimes with long-lasting effects on subsequent memory performance. Further imaging studies should focus on clarifying the role of specific sleep patterns for the processing of external stimuli, as well as the consolidation of freshly encoded information during sleep.

  18. 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.

  19. 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...

  20. Imperial College near infrared spectroscopy neuroimaging analysis framework.

    Science.gov (United States)

    Orihuela-Espina, Felipe; Leff, Daniel R; James, David R C; Darzi, Ara W; Yang, Guang-Zhong

    2018-01-01

    This paper describes the Imperial College near infrared spectroscopy neuroimaging analysis (ICNNA) software tool for functional near infrared spectroscopy neuroimaging data. ICNNA is a MATLAB-based object-oriented framework encompassing an application programming interface and a graphical user interface. ICNNA incorporates reconstruction based on the modified Beer-Lambert law and basic processing and data validation capabilities. Emphasis is placed on the full experiment rather than individual neuroimages as the central element of analysis. The software offers three types of analyses including classical statistical methods based on comparison of changes in relative concentrations of hemoglobin between the task and baseline periods, graph theory-based metrics of connectivity and, distinctively, an analysis approach based on manifold embedding. This paper presents the different capabilities of ICNNA in its current version.

  1. 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.

  2. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  3. Compilation of an informative microsatellite set for genetic characterisation of East African finger millet (Eleusine coracana

    Directory of Open Access Journals (Sweden)

    Santie M. De Villiers

    2015-03-01

    Discussion: Five individual samples from an accession captured the largest number of alleles per locus compared to the four different bulked sampling strategies but this difference was not significant. The identified set comprised 20 markers: UGEP24, UGEP53, UGEP84, UGEP27, UGEP98, UGEP95, UGEP64, UGEP33, UGEP67, UGEP106, UGEP110, UGEP57, UGEP96, UGEP66, UGEP46, UGEP79, UGEP20, UGEP12, UGEP73 and UGEP5 and was since used to assess East African finger millet genetic diversity in two separate studies.

  4. Testing the limits of the 'joint account' model of genetic information: a legal thought experiment.

    Science.gov (United States)

    Foster, Charles; Herring, Jonathan; Boyd, Magnus

    2015-05-01

    We examine the likely reception in the courtroom of the 'joint account' model of genetic confidentiality. We conclude that the model, as modified by Gilbar and others, is workable and reflects, better than more conventional legal approaches, both the biological and psychological realities and the obligations owed under Articles 8 and 10 of the European Convention on Human Rights (ECHR). Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  5. Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms

    Science.gov (United States)

    Mascheretti, S; De Luca, A; Trezzi, V; Peruzzo, D; Nordio, A; Marino, C; Arrigoni, F

    2017-01-01

    Developmental dyslexia (DD) is a complex neurodevelopmental deficit characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities and normal intelligence. Despite the successful characterization of DD-susceptibility genes, we are far from understanding the molecular etiological pathways underlying the development of reading (dis)ability. By focusing mainly on clinical phenotypes, the molecular genetics approach has yielded mixed results. More optimally reduced measures of functioning, that is, intermediate phenotypes (IPs), represent a target for researching disease-associated genetic variants and for elucidating the underlying mechanisms. Imaging data provide a viable IP for complex neurobehavioral disorders and have been extensively used to investigate both morphological, structural and functional brain abnormalities in DD. Performing joint genetic and neuroimaging studies in humans is an emerging strategy to link DD-candidate genes to the brain structure and function. A limited number of studies has already pursued the imaging–genetics integration in DD. However, the results are still not sufficient to unravel the complexity of the reading circuit due to heterogeneous study design and data processing. Here, we propose an interdisciplinary, multilevel, imaging–genetic approach to disentangle the pathways from genes to behavior. As the presence of putative functional genetic variants has been provided and as genetic associations with specific cognitive/sensorial mechanisms have been reported, new hypothesis-driven imaging–genetic studies must gain momentum. This approach would lead to the optimization of diagnostic criteria and to the early identification of ‘biologically at-risk’ children, supporting the definition of adequate and well-timed prevention strategies and the implementation of novel, specific remediation approach. PMID:28045463

  6. Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms.

    Science.gov (United States)

    Mascheretti, S; De Luca, A; Trezzi, V; Peruzzo, D; Nordio, A; Marino, C; Arrigoni, F

    2017-01-03

    Developmental dyslexia (DD) is a complex neurodevelopmental deficit characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities and normal intelligence. Despite the successful characterization of DD-susceptibility genes, we are far from understanding the molecular etiological pathways underlying the development of reading (dis)ability. By focusing mainly on clinical phenotypes, the molecular genetics approach has yielded mixed results. More optimally reduced measures of functioning, that is, intermediate phenotypes (IPs), represent a target for researching disease-associated genetic variants and for elucidating the underlying mechanisms. Imaging data provide a viable IP for complex neurobehavioral disorders and have been extensively used to investigate both morphological, structural and functional brain abnormalities in DD. Performing joint genetic and neuroimaging studies in humans is an emerging strategy to link DD-candidate genes to the brain structure and function. A limited number of studies has already pursued the imaging-genetics integration in DD. However, the results are still not sufficient to unravel the complexity of the reading circuit due to heterogeneous study design and data processing. Here, we propose an interdisciplinary, multilevel, imaging-genetic approach to disentangle the pathways from genes to behavior. As the presence of putative functional genetic variants has been provided and as genetic associations with specific cognitive/sensorial mechanisms have been reported, new hypothesis-driven imaging-genetic studies must gain momentum. This approach would lead to the optimization of diagnostic criteria and to the early identification of 'biologically at-risk' children, supporting the definition of adequate and well-timed prevention strategies and the implementation of novel, specific remediation approach.

  7. Comparison of information-theoretic to statistical methods for gene-gene interactions in the presence of genetic heterogeneity

    Directory of Open Access Journals (Sweden)

    Sucheston Lara

    2010-09-01

    Full Text Available Abstract Background Multifactorial diseases such as cancer and cardiovascular diseases are caused by the complex interplay between genes and environment. The detection of these interactions remains challenging due to computational limitations. Information theoretic approaches use computationally efficient directed search strategies and thus provide a feasible solution to this problem. However, the power of information theoretic methods for interaction analysis has not been systematically evaluated. In this work, we compare power and Type I error of an information-theoretic approach to existing interaction analysis methods. Methods The k-way interaction information (KWII metric for identifying variable combinations involved in gene-gene interactions (GGI was assessed using several simulated data sets under models of genetic heterogeneity driven by susceptibility increasing loci with varying allele frequency, penetrance values and heritability. The power and proportion of false positives of the KWII was compared to multifactor dimensionality reduction (MDR, restricted partitioning method (RPM and logistic regression. Results The power of the KWII was considerably greater than MDR on all six simulation models examined. For a given disease prevalence at high values of heritability, the power of both RPM and KWII was greater than 95%. For models with low heritability and/or genetic heterogeneity, the power of the KWII was consistently greater than RPM; the improvements in power for the KWII over RPM ranged from 4.7% to 14.2% at for α = 0.001 in the three models at the lowest heritability values examined. KWII performed similar to logistic regression. Conclusions Information theoretic models are flexible and have excellent power to detect GGI under a variety of conditions that characterize complex diseases.

  8. Embryonic aneuploidy does not differ among genetic ancestry according to continental origin as determined by ancestry informative markers.

    Science.gov (United States)

    Franasiak, Jason M; Olcha, Meir; Shastri, Shefali; Molinaro, Thomas A; Congdon, Haley; Treff, Nathan R; Scott, Richard T

    2016-10-01

    Is embryonic aneuploidy, as determined by comprehensive chromosome screening (CCS), related to genetic ancestry, as determined by ancestry informative markers (AIMs)? In this study, when determining continental ancestry utilizing AIMs, genetic ancestry does not have an impact on embryonic aneuploidy. Aneuploidy is one of the best-characterized barriers to ART success and little information exists regarding ethnicity and whole chromosome aneuploidy in IVF. Classifying continental ancestry utilizing genetic profiles from a selected group of single nucleotide polymorphisms, termed AIMs, can determine ancestral origin with more accuracy than self-reported data. This is a retrospective cohort study of patients undergoing their first cycle of IVF with CCS at a single center from 2008 to 2014. There were 2328 patients identified whom had undergone IVF/CCS and AIM genotyping. All patients underwent IVF/ICSI and CCS after trophectoderm biopsy. Patients' serum was genotyped using 32 custom AIMs to identify continental origin. Admixture proportions were determined using Bayesian clustering algorithms. Patients were assigned to the population (European, African, East Asian or Central/South Asian) corresponding to their greatest admixture proportion. The mean number of embryos tested was 5.3 (range = 1-40) and the mode was 1. Patients' ethnic classifications revealed European (n = 1698), African (n = 103), East Asian (n = 206) or Central/South Asian (n = 321). When controlling for age and BMI, aneuploidy rate did not differ by genetic ancestry (P = 0.28). The study type (retrospective) and the ability to classify patients by continental rather than sub-continental origin as well as the predominantly European patient mix may impact generalizability. Post hoc power calculation revealed power to detect a 16.8% difference in embryonic aneuploidy between the two smallest sample size groups. These data do not support differences in embryonic aneuploidy among various genetic

  9. 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.

  10. Genetic Mutations and Epigenetic Modifications: Driving Cancer and Informing Precision Medicine

    Science.gov (United States)

    Coyle, Krysta Mila; Boudreau, Jeanette E.

    2017-01-01

    Cancer treatment is undergoing a significant revolution from “one-size-fits-all” cytotoxic therapies to tailored approaches that precisely target molecular alterations. Precision strategies for drug development and patient stratification, based on the molecular features of tumors, are the next logical step in a long history of approaches to cancer therapy. In this review, we discuss the history of cancer treatment from generic natural extracts and radical surgical procedures to site-specific and combinatorial treatment regimens, which have incrementally improved patient outcomes. We discuss the related contributions of genetics and epigenetics to cancer progression and the response to targeted therapies and identify challenges and opportunities for the success of precision medicine. The identification of patients who will benefit from targeted therapies is more complex than simply identifying patients whose tumors harbour the targeted aberration, and intratumoral heterogeneity makes it difficult to determine if a precision therapy is successful during treatment. This heterogeneity enables tumors to develop resistance to targeted approaches; therefore, the rational combination of therapeutic agents will limit the threat of acquired resistance to therapeutic success. By incorporating the view of malignant transformation modulated by networks of genetic and epigenetic interactions, molecular strategies will enable precision medicine for effective treatment across cancer subtypes. PMID:28685150

  11. Synthetic Biology Parts for the Storage of Increased Genetic Information in Cells.

    Science.gov (United States)

    Morris, Sydney E; Feldman, Aaron W; Romesberg, Floyd E

    2017-10-20

    To bestow cells with novel forms and functions, the goal of synthetic biology, we have developed the unnatural nucleoside triphosphates dNaMTP and dTPT3TP, which form an unnatural base pair (UBP) and expand the genetic alphabet. While the UBP may be retained in the DNA of a living cell, its retention is sequence-dependent. We now report a steady-state kinetic characterization of the rate with which the Klenow fragment of E. coli DNA polymerase I synthesizes the UBP and its mispairs in a variety of sequence contexts. Correct UBP synthesis is as efficient as for a natural base pair, except in one sequence context, and in vitro performance is correlated with in vivo performance. The data elucidate the determinants of efficient UBP synthesis, show that the dNaM-dTPT3 UBP is the first generally recognized natural-like base pair, and importantly, demonstrate that dNaMTP and dTPT3TP are well optimized and standardized parts for the expansion of the genetic alphabet.

  12. 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.

  13. Neuroimaging of phakomatoses: overview and advances

    Energy Technology Data Exchange (ETDEWEB)

    Vezina, Gilbert [The George Washington University School of Medicine and Health Sciences, Departments of Radiology and Pediatrics, Division of Neuroradiology, Children' s National Medical Center, Washington, DC (United States)

    2015-09-15

    The phakomatoses are disorders characterized by multiple hamartomas and other congenital malformations affecting mainly the skin and the central and peripheral nervous systems. Many affected individuals have an increased genetic susceptibility to develop malignancies. Imaging is central in the diagnosis of many of the phakomatoses, and MRI is used as a screening tool in many children with known neurocutaneous disorders. This manuscript addresses the three most common (neurofibromatosis type 1, tuberous sclerosis complex, Sturge-Weber syndrome) and focuses on pathophysiological and radiologic insights that have emerged in the last few years. (orig.)

  14. Risk-informed decision making in the nuclear industry: Application and effectiveness comparison of different genetic algorithm techniques

    International Nuclear Information System (INIS)

    Gjorgiev, Blaže; Kančev, Duško; Čepin, Marko

    2012-01-01

    Highlights: ► Multi-objective optimization of STI based on risk-informed decision making. ► Four different genetic algorithms (GAs) techniques are used as optimization tool. ► Advantages/disadvantages among the four different GAs applied are emphasized. - Abstract: The risk-informed decision making (RIDM) process, where insights gained from the probabilistic safety assessment are contemplated together with other engineering insights, is gaining an ever-increasing attention in the process industries. Increasing safety systems availability by applying RIDM is one of the prime goals for the authorities operating with nuclear power plants. Additionally, equipment ageing is gradually becoming a major concern in the process industries and especially in the nuclear industry, since more and more safety-related components are approaching or are already in their wear-out phase. A significant difficulty regarding the consideration of ageing effects on equipment (un)availability is the immense uncertainty the available equipment ageing data are associated to. This paper presents an approach for safety system unavailability reduction by optimizing the related test and maintenance schedule suggested by the technical specifications in the nuclear industry. Given the RIDM philosophy, two additional insights, i.e. ageing data uncertainty and test and maintenance costs, are considered along with unavailability insights gained from the probabilistic safety assessment for a selected standard safety system. In that sense, an approach for multi-objective optimization of the equipment surveillance test interval is proposed herein. Three different objective functions related to each one of the three different insights discussed above comprise the multi-objective nature of the optimization process. Genetic algorithm technique is utilized as an optimization tool. Four different types of genetic algorithms are utilized and consequently comparative analysis is conducted given the

  15. Analysis of the genetic structure of the Malay population: Ancestry-informative marker SNPs in the Malay of Peninsular Malaysia.

    Science.gov (United States)

    Yahya, Padillah; Sulong, Sarina; Harun, Azian; Wan Isa, Hatin; Ab Rajab, Nur-Shafawati; Wangkumhang, Pongsakorn; Wilantho, Alisa; Ngamphiw, Chumpol; Tongsima, Sissades; Zilfalil, Bin Alwi

    2017-09-01

    Malay, the main ethnic group in Peninsular Malaysia, is represented by various sub-ethnic groups such as Melayu Banjar, Melayu Bugis, Melayu Champa, Melayu Java, Melayu Kedah Melayu Kelantan, Melayu Minang and Melayu Patani. Using data retrieved from the MyHVP (Malaysian Human Variome Project) database, a total of 135 individuals from these sub-ethnic groups were profiled using the Affymetrix GeneChip Mapping Xba 50-K single nucleotide polymorphism (SNP) array to identify SNPs that were ancestry-informative markers (AIMs) for Malays of Peninsular Malaysia. Prior to selecting the AIMs, the genetic structure of Malays was explored with reference to 11 other populations obtained from the Pan-Asian SNP Consortium database using principal component analysis (PCA) and ADMIXTURE. Iterative pruning principal component analysis (ipPCA) was further used to identify sub-groups of Malays. Subsequently, we constructed an AIMs panel for Malays using the informativeness for assignment (I n ) of genetic markers, and the K-nearest neighbor classifier (KNN) was used to teach the classification models. A model of 250 SNPs ranked by I n , correctly classified Malay individuals with an accuracy of up to 90%. The identified panel of SNPs could be utilized as a panel of AIMs to ascertain the specific ancestry of Malays, which may be useful in disease association studies, biomedical research or forensic investigation purposes. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. A Genetically Informed Study of the Association Between Harsh Punishment and Offspring Behavioral Problems

    Science.gov (United States)

    Lynch, Stacy K.; Turkheimer, Eric; D’Onofrio, Brian M.; Mendle, Jane; Emery, Robert E.; Slutske, Wendy S.; Martin, Nicholas G.

    2010-01-01

    Conclusions about the effects of harsh parenting on children have been limited by research designs that cannot control for genetic or shared environmental confounds. The present study used a sample of children of twins and a hierarchical linear modeling statistical approach to analyze the consequences of varying levels of punishment while controlling for many confounding influences. The sample of 887 twin pairs and 2,554 children came from the Australian Twin Registry. Although corporal punishment per se did not have significant associations with negative childhood outcomes, harsher forms of physical punishment did appear to have specific and significant effects. The observed association between harsh physical punishment and negative outcomes in children survived a relatively rigorous test of its causal status, thereby increasing the authors’ conviction that harsh physical punishment is a serious risk factor for children. PMID:16756394

  17. Apparatus, System and Method for Fast Detection of Genetic Information by PCR in an Interchangeable Chip

    KAUST Repository

    Wen, Weijia

    2011-03-03

    A polymerase chain reaction (PCR) device for fast amplification and detection of DNA includes an interchangeable PCR chamber, a temperature control component, and an optical detection system. The DNA amplification is performed on an interchangeable chip with volumes as small as 1.25 µl, while the heating and cooling rate may be as fast as 12.7 °C/second ensuring that the total time needed of only 25 minutes to complete the 35 cycle PCR amplification. The PCR may be performed according to a two-temperature approach for denaturing and annealing (Td and Ta) of DNA with the PCR chip, with which the amplification of male-specific SRY gene marker by utilizing raw saliva may be achieved. The genetic identification may be in-situ detected after PCR by the optical detection system.

  18. Fast detection of genetic information by an optimized PCR in an interchangeable chip.

    KAUST Repository

    Wu, Jinbo

    2012-02-01

    In this paper, we report the construction of a polymerase chain reaction (PCR) device for fast amplification and detection of DNA. This device consists of an interchangeable PCR chamber, a temperature control component as well as an optical detection system. The DNA amplification happens on an interchangeable chip with the volumes as low as 1.25 μl, while the heating and cooling rate was as fast as 12.7°C/second ensuring that the total time needed of only 25 min to complete the 35 cycle PCR amplification. An optimized PCR with two-temperature approach for denaturing and annealing (Td and Ta) of DNA was also formulated with the PCR chip, with which the amplification of male-specific sex determining region Y (SRY) gene marker by utilizing raw saliva was successfully achieved and the genetic identification was in-situ detected right after PCR by the optical detection system.

  19. Transparency of genetic testing services for 'health, wellness and lifestyle': analysis of online prepurchase information for UK consumers.

    Science.gov (United States)

    Hall, Jacqueline A; Gertz, Rena; Amato, Joan; Pagliari, Claudia

    2017-08-01

    The declining cost of DNA sequencing has been accompanied by a proliferation of companies selling 'direct-to-consumer genetic testing' (DTC-GT) services. Many of these are marketed online as tools for enabling citizens to make more informed decisions about their health, wellness and lifestyle. We assessed the 'information for consumers' provided by these companies at the prepurchase stage, which could influence initial decisions to part with money, data or tissue samples. A scoping exercise revealed 65 DTC-GT companies advertising their services online to consumers in the United Kingdom, of which 15 met our inclusion criteria. We benchmarked their consumer information against the good practice principles developed by the UK Human Genetics Commission (HGC). No provider complied with all the HGC principles and overall levels of compliance varied considerably. Although consent for testing was discussed by all but one company, information about data reuse for research or other purposes was often sparse and consent options limited or unclear. Most did not provide supplementary support services to help users better understand or cope with the implications of test results. We provide recommendations for updating the preconsumer transparency aspects of the HGC guidelines to ensure their fitness-for-purpose in this rapidly changing market. We also recommend improving coordination between relevant governance bodies to ensure minimum standards of transparency, quality and accountability. Although DTC-GT has many potential benefits, close partnership between consumers, industry and government, along with interdisciplinary science input, are essential to ensure that these innovations are used ethically and responsibly.

  20. Genetic and bibliographic information - GenLibi | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available n Data acquisition method Articles related to genes were obtained from the bibliography database (JDream II)...provided from the JST bibliographic information system (JDream II) About This Database Database Description

  1. Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians

    Directory of Open Access Journals (Sweden)

    Gemma A. Bilkey

    2018-06-01

    Full Text Available In the USA, a bill has been introduced to the senate that may jeopardize an individual's rights to privacy and non-discrimination. This piece examines the proposed Preserving Employee Wellness Programs Act (PEWPA, and implications this will have on the use of genetic information. The Act allows for employers to apply financial penalties for health insurance based on genetic information, which raises concerns as the capacity to interpret genetic results is limited by knowledge of the significance of both benign and pathogenic variants. In Australia, genetic information can only be used to determine life insurance, not to stratify health insurance, and any precedent set internationally should raise concerns of the potential for change on the horizon.

  2. Imaging stress effects on memory: a review of neuroimaging studies

    NARCIS (Netherlands)

    van Stegeren, A.H.

    2009-01-01

    Objective: To review and give an overview of neuroimaging studies that look at the role of stress (hormones) on memory. Method: An overview will be given of imaging studies that looked at the role of stress (hormones) on memory. Stress is here defined as the acute provocation of the sympathetic

  3. SHIWA workflow interoperability solutions for neuroimaging data analysis

    NARCIS (Netherlands)

    Korkhov, Vladimir; Krefting, Dagmar; Montagnat, Johan; Truong Huu, Tram; Kukla, Tamas; Terstyanszky, Gabor; Manset, David; Caan, Matthan; Olabarriaga, Silvia

    2012-01-01

    Neuroimaging is a field that benefits from distributed computing infrastructures (DCIs) to perform data- and compute-intensive processing and analysis. Using grid workflow systems not only automates the processing pipelines, but also enables domain researchers to implement their expertise on how to

  4. Porcupine : A visual pipeline tool for neuroimaging analysis

    NARCIS (Netherlands)

    van Mourik, Tim; Snoek, Lukas; Knapen, T; Norris, David G

    The field of neuroimaging is rapidly adopting a more reproducible approach to data acquisition and analysis. Data structures and formats are being standardised and data analyses are getting more automated. However, as data analysis becomes more complicated, researchers often have to write longer

  5. Contributions of neuroimaging in singing voice studies: a systematic review

    Directory of Open Access Journals (Sweden)

    Geová Oliveira de Amorim

    Full Text Available ABSTRACT It is assumed that singing is a highly complex activity, which requires the activation and interconnection of sensorimotor areas. The aim of the current research was to present the evidence from neuroimaging studies in the performance of the motor and sensory system in the process of singing. Research articles on the characteristics of human singing analyzed by neuroimaging, which were published between 1990 and 2016, and indexed and listed in databases such as PubMed, BIREME, Lilacs, Web of Science, Scopus, and EBSCO were chosen for this systematic review. A total of 9 articles, employing magnetoencephalography, functional magnetic resonance imaging, positron emission tomography, and electrocorticography were chosen. These neuroimaging approaches enabled the identification of a neural network interconnecting the spoken and singing voice, to identify, modulate, and correct pitch. This network changed with the singer's training, variations in melodic structure and harmonized singing, amusia, and the relationship among the brain areas that are responsible for speech, singing, and the persistence of musicality. Since knowledge of the neural networks that control singing is still scarce, the use of neuroimaging methods to elucidate these pathways should be a focus of future research.

  6. 25 years of neuroimaging in amyotrophic lateral sclerosis

    Science.gov (United States)

    Foerster, Bradley R.; Welsh, Robert C.; Feldman, Eva L.

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease for which a precise cause has not yet been identified. Standard CT or MRI evaluation does not demonstrate gross structural nervous system changes in ALS, so conventional neuroimaging techniques have provided little insight into the pathophysiology of this disease. Advanced neuroimaging techniques—such as structural MRI, diffusion tensor imaging and proton magnetic resonance spectroscopy—allow evaluation of alterations of the nervous system in ALS. These alterations include focal loss of grey and white matter and reductions in white matter tract integrity, as well as changes in neural networks and in the chemistry, metabolism and receptor distribution in the brain. Given their potential for investigation of both brain structure and function, advanced neuroimaging methods offer important opportunities to improve diagnosis, guide prognosis, and direct future treatment strategies in ALS. In this article, we review the contributions made by various advanced neuroimaging techniques to our understanding of the impact of ALS on different brain regions, and the potential role of such measures in biomarker development. PMID:23917850

  7. Linking Essential Tremor to the Cerebellum-Neuroimaging Evidence.

    Science.gov (United States)

    Cerasa, Antonio; Quattrone, Aldo

    2016-06-01

    Essential tremor (ET) is the most common pathological tremor disorder in the world, and post-mortem evidence has shown that the cerebellum is the most consistent area of pathology in ET. In the last few years, advanced neuroimaging has tried to confirm this evidence. The aim of the present review is to discuss to what extent the evidence provided by this field of study may be generalised. We performed a systematic literature search combining the terms ET with the following keywords: MRI, VBM, MRS, DTI, fMRI, PET and SPECT. We summarised and discussed each study and placed the results in the context of existing knowledge regarding the cerebellar involvement in ET. A total of 51 neuroimaging studies met our search criteria, roughly divided into 19 structural and 32 functional studies. Despite clinical and methodological differences, both functional and structural imaging studies showed similar findings but without defining a clear topography of neurodegeneration. Indeed, the vast majority of studies found functional and structural abnormalities in several parts of the anterior and posterior cerebellar lobules, but it remains to be established to what degree these neural changes contribute to clinical symptoms of ET. Currently, advanced neuroimaging has confirmed the involvement of the cerebellum in pathophysiological processes of ET, although a high variability in results persists. For this reason, the translation of this knowledge into daily clinical practice is again partially limited, although new advanced multivariate neuroimaging approaches (machine-learning) are proving interesting changes of perspective.

  8. Functional neuroimaging of emotional learning and autonomic reactions.

    Science.gov (United States)

    Peper, Martin; Herpers, Martin; Spreer, Joachim; Hennig, Jürgen; Zentner, Josef

    2006-06-01

    This article provides a selective overview of the functional neuroimaging literature with an emphasis on emotional activation processes. Emotions are fast and flexible response systems that provide basic tendencies for adaptive action. From the range of involved component functions, we first discuss selected automatic mechanisms that control basic adaptational changes. Second, we illustrate how neuroimaging work has contributed to the mapping of the network components associated with basic emotion families (fear, anger, disgust, happiness), and secondary dimensional concepts that organise the meaning space for subjective experience and verbal labels (emotional valence, activity/intensity, approach/withdrawal, etc.). Third, results and methodological difficulties are discussed in view of own neuroimaging experiments that investigated the component functions involved in emotional learning. The amygdala, prefrontal cortex, and striatum form a network of reciprocal connections that show topographically distinct patterns of activity as a correlate of up and down regulation processes during an emotional episode. Emotional modulations of other brain systems have attracted recent research interests. Emotional neuroimaging calls for more representative designs that highlight the modulatory influences of regulation strategies and socio-cultural factors responsible for inhibitory control and extinction. We conclude by emphasising the relevance of the temporal process dynamics of emotional activations that may provide improved prediction of individual differences in emotionality.

  9. Attention to spoken word planning: Chronometric and neuroimaging evidence

    NARCIS (Netherlands)

    Roelofs, A.P.A.

    2008-01-01

    This article reviews chronometric and neuroimaging evidence on attention to spoken word planning, using the WEAVER++ model as theoretical framework. First, chronometric studies on the time to initiate vocal responding and gaze shifting suggest that spoken word planning may require some attention,

  10. Uncovering the etiology of conversion disorder: insights from functional neuroimaging

    Science.gov (United States)

    Ejareh dar, Maryam; Kanaan, Richard AA

    2016-01-01

    Conversion disorder (CD) is a syndrome of neurological symptoms arising without organic cause, arguably in response to emotional stress, but the exact neural substrates of these symptoms and the underlying mechanisms remain poorly understood with the hunt for a biological basis afoot for centuries. In the past 15 years, novel insights have been gained with the advent of functional neuroimaging studies in patients suffering from CDs in both motor and nonmotor domains. This review summarizes recent functional neuroimaging studies including functional magnetic resonance imaging (fMRI), single photon emission computerized tomography (SPECT), and positron emission tomography (PET) to see whether they bring us closer to understanding the etiology of CD. Convergent functional neuroimaging findings suggest alterations in brain circuits that could point to different mechanisms for manifesting functional neurological symptoms, in contrast with feigning or healthy controls. Abnormalities in emotion processing and in emotion-motor processing suggest a diathesis, while differential reactions to certain stressors implicate a specific response to trauma. No comprehensive theory emerges from these clues, and all results remain preliminary, but functional neuroimaging has at least given grounds for hope that a model for CD may soon be found. PMID:26834476

  11. 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 on v...

  12. Toward allotetraploid cotton genome assembly: integration of a high-density molecular genetic linkage map with DNA sequence information

    Science.gov (United States)

    2012-01-01

    Background Cotton is the world’s most important natural textile fiber and a significant oilseed crop. Decoding cotton genomes will provide the ultimate reference and resource for research and utilization of the species. Integration of high-density genetic maps with genomic sequence information will largely accelerate the process of whole-genome assembly in cotton. Results In this paper, we update a high-density interspecific genetic linkage map of allotetraploid cultivated cotton. An additional 1,167 marker loci have been added to our previously published map of 2,247 loci. Three new marker types, InDel (insertion-deletion) and SNP (single nucleotide polymorphism) developed from gene information, and REMAP (retrotransposon-microsatellite amplified polymorphism), were used to increase map density. The updated map consists of 3,414 loci in 26 linkage groups covering 3,667.62 cM with an average inter-locus distance of 1.08 cM. Furthermore, genome-wide sequence analysis was finished using 3,324 informative sequence-based markers and publicly-available Gossypium DNA sequence information. A total of 413,113 EST and 195 BAC sequences were physically anchored and clustered by 3,324 sequence-based markers. Of these, 14,243 ESTs and 188 BACs from different species of Gossypium were clustered and specifically anchored to the high-density genetic map. A total of 2,748 candidate unigenes from 2,111 ESTs clusters and 63 BACs were mined for functional annotation and classification. The 337 ESTs/genes related to fiber quality traits were integrated with 132 previously reported cotton fiber quality quantitative trait loci, which demonstrated the important roles in fiber quality of these genes. Higher-level sequence conservation between different cotton species and between the A- and D-subgenomes in tetraploid cotton was found, indicating a common evolutionary origin for orthologous and paralogous loci in Gossypium. Conclusion This study will serve as a valuable genomic resource

  13. Importance measures and genetic algorithms for designing a risk-informed optimally balanced system

    International Nuclear Information System (INIS)

    Zio, Enrico; Podofillini, Luca

    2007-01-01

    This paper deals with the use of importance measures for the risk-informed optimization of system design and management. An optimization approach is presented in which the information provided by the importance measures is incorporated in the formulation of a multi-objective optimization problem to drive the design towards a solution which, besides being optimal from the points of view of economics and safety, is also 'balanced' in the sense that all components have similar importance values. The approach allows identifying design systems without bottlenecks or unnecessarily high-performing components and with test/maintenance activities calibrated according to the components' importance ranking. The approach is tested at first against a multi-state system design optimization problem in which off-the-shelf components have to be properly allocated. Then, the more realistic problem of risk-informed optimization of the technical specifications of a safety system of a nuclear power plant is addressed

  14. DOMINO: development of informative molecular markers for phylogenetic and genome-wide population genetic studies in non-model organisms.

    Science.gov (United States)

    Frías-López, Cristina; Sánchez-Herrero, José F; Guirao-Rico, Sara; Mora, Elisa; Arnedo, Miquel A; Sánchez-Gracia, Alejandro; Rozas, Julio

    2016-12-15

    The development of molecular markers is one of the most important challenges in phylogenetic and genome wide population genetics studies, especially in studies with non-model organisms. A highly promising approach for obtaining suitable markers is the utilization of genomic partitioning strategies for the simultaneous discovery and genotyping of a large number of markers. Unfortunately, not all markers obtained from these strategies provide enough information for solving multiple evolutionary questions at a reasonable taxonomic resolution. We have developed Development Of Molecular markers In Non-model Organisms (DOMINO), a bioinformatics tool for informative marker development from both next generation sequencing (NGS) data and pre-computed sequence alignments. The application implements popular NGS tools with new utilities in a highly versatile pipeline specifically designed to discover or select personalized markers at different levels of taxonomic resolution. These markers can be directly used to study the taxa surveyed for their design, utilized for further downstream PCR amplification in a broader set taxonomic scope, or exploited as suitable templates to bait design for target DNA enrichment techniques. We conducted an exhaustive evaluation of the performance of DOMINO via computer simulations and illustrate its utility to find informative markers in an empirical dataset. DOMINO is freely available from www.ub.edu/softevol/domino CONTACT: elsanchez@ub.edu or jrozas@ub.eduSupplementary information: Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  15. Nonhuman primate positron emission tomography neuroimaging in drug abuse research.

    Science.gov (United States)

    Howell, Leonard Lee; Murnane, Kevin Sean

    2011-05-01

    Positron emission tomography (PET) neuroimaging in nonhuman primates has led to significant advances in our current understanding of the neurobiology and treatment of stimulant addiction in humans. PET neuroimaging has defined the in vivo biodistribution and pharmacokinetics of abused drugs and related these findings to the time course of behavioral effects associated with their addictive properties. With novel radiotracers and enhanced resolution, PET neuroimaging techniques have also characterized in vivo drug interactions with specific protein targets in the brain, including neurotransmitter receptors and transporters. In vivo determinations of cerebral blood flow and metabolism have localized brain circuits implicated in the effects of abused drugs and drug-associated stimuli. Moreover, determinations of the predisposing factors to chronic drug use and long-term neurobiological consequences of chronic drug use, such as potential neurotoxicity, have led to novel insights regarding the pathology and treatment of drug addiction. However, similar approaches clearly need to be extended to drug classes other than stimulants. Although dopaminergic systems have been extensively studied, other neurotransmitter systems known to play a critical role in the pharmacological effects of abused drugs have been largely ignored in nonhuman primate PET neuroimaging. Finally, the study of brain activation with PET neuroimaging has been replaced in humans mostly by functional magnetic resonance imaging (fMRI). There has been some success in implementing pharmacological fMRI in awake nonhuman primates. Nevertheless, the unique versatility of PET imaging will continue to complement the systems-level strengths of fMRI, especially in the context of nonhuman primate drug abuse research.

  16. University Students' Knowledge Structures and Informal Reasoning on the Use of Genetically Modified Foods: Multidimensional Analyses

    Science.gov (United States)

    Wu, Ying-Tien

    2013-10-01

    This study aims to provide insights into the role of learners' knowledge structures about a socio-scientific issue (SSI) in their informal reasoning on the issue. A total of 42 non-science major university students' knowledge structures and informal reasoning were assessed with multidimensional analyses. With both qualitative and quantitative analyses, this study revealed that those students with more extended and better-organized knowledge structures, as well as those who more frequently used higher-order information processing modes, were more oriented towards achieving a higher-level informal reasoning quality. The regression analyses further showed that the "richness" of the students' knowledge structures explained 25 % of the variation in their rebuttal construction, an important indicator of reasoning quality, indicating the significance of the role of students' sophisticated knowledge structure in SSI reasoning. Besides, this study also provides some initial evidence for the significant role of the "core" concept within one's knowledge structure in one's SSI reasoning. The findings in this study suggest that, in SSI-based instruction, science instructors should try to identify students' core concepts within their prior knowledge regarding the SSI, and then they should try to guide students to construct and structure relevant concepts or ideas regarding the SSI based on their core concepts. Thus, students could obtain extended and well-organized knowledge structures, which would then help them achieve better learning transfer in dealing with SSIs.

  17. The Neuro-Image: Alain Resnais's Digital Cinema without the Digits

    NARCIS (Netherlands)

    Pisters, P.

    2011-01-01

    This paper proposes to read cinema in the digital age as a new type of image, the neuroimage. Going back to Gilles Deleuze's cinema books and it is argued that the neuro-image is based in the future. The cinema of Alain Resnais is analyzed as a neuro-image and digital cinema .

  18. Companied P16 genetic and protein status together providing useful information on the clinical outcome of urinary bladder cancer.

    Science.gov (United States)

    Pu, Xiaohong; Zhu, Liya; Fu, Yao; Fan, Zhiwen; Zheng, Jinyu; Zhang, Biao; Yang, Jun; Guan, Wenyan; Wu, Hongyan; Ye, Qing; Huang, Qing

    2018-04-01

    SPEC P16/CEN3/7/17 Probe fluorescence-in-situ-hybridization (FISH) has become the most sensitive method in indentifying the urothelial tumors and loss of P16 has often been identified in low-grade urothelial lesions; however, little is known about the significations of other P16 genetic status (normal and amplification) in bladder cancer.We detected P16 gene status by FISH in 259 urine samples and divided these samples into 3 groups: 1, normal P16; 2, loss of P16; and 3, amplified P16. Meanwhile, p16 protein expression was measured by immunocytochemistry and we characterized the clinicopathologic features of cases with P16 gene status.Loss of P16 occurred in 26.2%, P16 amplification occurred in 41.3% and P16 gene normal occurred in 32.4% of all cases. P16 genetic status was significantly associated with tumor grade and primary tumor status (P = .008 and .017), but not with pathological tumor stage, overall survival, and p16 protein expression. However, P16 gene amplification accompanied protein high-expression has shorter overall survival compared with the overall patients (P = .023), and P16 gene loss accompanied loss of protein also had the tendency to predict bad prognosis (P = .067).Studies show that the genetic status of P16 has a close relation with the stages of bladder cancer. Loss of P16 is associated with low-grade urothelial malignancy while amplified P16 donotes high-grade. Neither P16 gene status nor p16 protein expression alone is an independent predictor of urothelial bladder carcinoma, but combine gene and protein status together providing useful information on the clinical outcome of these patients.

  19. Neuroimaging of malformation of cortical development

    International Nuclear Information System (INIS)

    Zlatareva, D.; Hadjidekov, V.; Tournev, I.; Rossi, A.

    2012-01-01

    Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development.The common clinical presentation is refractory epilepsy and or developmental delay. The aim of this paper is to describe and analyze magnetic resonance (MR) findings and to present protocol for examination. We analyze MR findings in 17 patients with MCD. The average age was 12,1 year (from 2 months - 57 years). The main indications from reference physician are epilepsy and developmental delay. In 12 patients 1.5T MR was performed, and in 5 - 0.5T. Subependymal heterotopias was found in 6 patients, focal cortical dysplasia - 3. polymicrogyria - 3, schizencephaly - 2, hemimegalencephaly -1, lizencephaly -1, tuberous sclerosis -1. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria. schizencephaiy, pachygyria and lizencephaly. In our study the number of patients is not big enough to make a conclusion about frequency of the forms of MCD and our goal is to analyze MR findings which are not well studied in our country. MRI is the method of choice for diagnosis of MCD. The protocol should be different from routine brain protocol to interpret the images with good quality and not miss the pathology. Knowledge of MR findings in MCD would help for genetic counselling in some cases or can predict prognosis in some patients. (authors)

  20. Neurofunctional systems. 3D reconstructions with correlated neuroimaging

    International Nuclear Information System (INIS)

    Kretschmann, H.J.; Fiekert, W.; Gerke, M.; Vogt, H.; Weirich, D.; Wesemann, M.; Weinrich, W.

    1998-01-01

    This book introduces, for the first time, computer-generated images of the neurofunctional systems of the human brain. These images are more accurate than drawings. The main views presented are of the medial lemniscus system, auditory system, visual system, basal ganglia, corticospinal system, and the limbic system. The arteries and sulci of the cerebral hemispheres are also illustrated by computer. These images provide a three-dimensional orientation of the intracranial space and help, for example, to assess vascular functional disturbance of the brain. Clinicians will find these images valuable for the spatial interpretation of magnetic resonance (MR), computed tomography (CT), and positron emission tomography (PET) images since many neurofunctional systems cannot be visualized as isolated structures in neuroimaging. Computer-assisted surface reconstructions of the neurofunctional systems and the cerebral arteries serve as a basis for constructing these computer-generated images. The surface reconstructions are anatomically realistic having been created from brain sections with minimal deformations. The method of computer graphics, known as ray tracing, produces digital images form these reconstructions. The computer-generated methods are explained. The computer-generated images are accompanied by illustrations and texts on neuroanatomy and clinical practice. The neurofunctional systems of the human brain are also shown in sections so that the reader can mentally reconstruct the neurofunctional systems, thus facilitating the transformation of information into textbooks and atlantes of MR and CT imaging. The aim of this book is acquaint the reader with the three-dimensional aspects of the neurofunctional systems and the cerebral arteries of the human brain using methods of computer graphics. Computer scientists and those interested in this technique are provided with basic neuroanatomic and neurofunctional information. Physicians will have a clearer understanding

  1. Neurofunctional systems. 3D reconstructions with correlated neuroimaging

    Energy Technology Data Exchange (ETDEWEB)

    Kretschmann, H.J.; Fiekert, W.; Gerke, M.; Vogt, H.; Weirich, D.; Wesemann, M. [Medizinische Hochschule Hannover (Germany). Abt. Neuroanatomie; Weinrich, W. [Staedtisches Krankenhaus Nordstadt, Hannover (Germany). Abt. fuer Neurologie

    1998-12-31

    This book introduces, for the first time, computer-generated images of the neurofunctional systems of the human brain. These images are more accurate than drawings. The main views presented are of the medial lemniscus system, auditory system, visual system, basal ganglia, corticospinal system, and the limbic system. The arteries and sulci of the cerebral hemispheres are also illustrated by computer. These images provide a three-dimensional orientation of the intracranial space and help, for example, to assess vascular functional disturbance of the brain. Clinicians will find these images valuable for the spatial interpretation of magnetic resonance (MR), computed tomography (CT), and positron emission tomography (PET) images since many neurofunctional systems cannot be visualized as isolated structures in neuroimaging. Computer-assisted surface reconstructions of the neurofunctional systems and the cerebral arteries serve as a basis for constructing these computer-generated images. The surface reconstructions are anatomically realistic having been created from brain sections with minimal deformations. The method of computer graphics, known as ray tracing, produces digital images form these reconstructions. The computer-generated methods are explained. The computer-generated images are accompanied by illustrations and texts on neuroanatomy and clinical practice. The neurofunctional systems of the human brain are also shown in sections so that the reader can mentally reconstruct the neurofunctional systems, thus facilitating the transformation of information into textbooks and atlantes of MR and CT imaging. The aim of this book is acquaint the reader with the three-dimensional aspects of the neurofunctional systems and the cerebral arteries of the human brain using methods of computer graphics. Computer scientists and those interested in this technique are provided with basic neuroanatomic and neurofunctional information. Physicians will have a clearer understanding

  2. Changing public perceptions of genetically modified foods: Effects of consumer information and direct product experience

    DEFF Research Database (Denmark)

    Scholderer, Joachim; Bech-Larsen, Tino; Grunert, Klaus G.

    and values. Two policies can be adopted in such a situation: (a) consumers can be actively informed regarding the risks and benefits and (b) consumers can be given the opportunity to evaluate products on the basis of direct experience. The effectiveness of both policies was tested in two experiments....... In experiment 1, attitude change experiments were conducted with consumers from Denmark, Germany, Italy and the UK (N=1650). Different information strategies were tested against a control group for their ability to change consumers' attitudes and their influence on product choice. Results indicate...... that no attitude change occured. Instead, all stategies seemed to bolster pre-existing attitudes, thereby significantly decreasing consumers' preferences for GM products. The effect did not occur when consumers only saw a labeled product example. In experiment 2, we tested the effects of direct experience...

  3. Self-Organization of Template-Replicating Polymers and the Spontaneous Rise of Genetic Information

    Directory of Open Access Journals (Sweden)

    Jarle Breivik

    2001-11-01

    Full Text Available Abstract: Living systems imply self-reproducing constructs capable of Darwinian evolution. How such dynamics can arise from undirected interactions between simple monomeric objects remains an open question. Here we circumvent difficulties related to the manipulation of chemical interactions, and present a system of ferromagnetic objects that self-organize into template-replicating polymers due to environmental fluctuations in temperature. Initially random sequences of monomers direct the formation of complementary sequences, and structural information is inherited from one structure to another. Selective replication of sequences occurs in dynamic interaction with the environment, and the system demonstrates the fundamental link between thermodynamics, information theory, and life science in an unprecedented manner.

  4. European Population Genetic Substructure: Further Definition of Ancestry Informative Markers for Distinguishing Among Diverse European Ethnic Groups

    Science.gov (United States)

    Tian, Chao; Kosoy, Roman; Nassir, Rami; Lee, Annette; Villoslada, Pablo; Klareskog, Lars; Hammarström, Lennart; Garchon, Henri-Jean; Pulver, Ann E.; Ransom, Michael; Gregersen, Peter K.; Seldin, Michael F.

    2009-01-01

    The definition of European population genetic substructure and its application to understanding complex phenotypes is becoming increasingly important. In the current study using over 4000 subjects genotyped for 300 thousand SNPs we provide further insight into relationships among European population groups and identify sets of SNP ancestry informative markers (AIMs) for application in genetic studies. In general, the graphical description of these principal components analyses (PCA) of diverse European subjects showed a strong correspondence to the geographical relationships of specific countries or regions of origin. Clearer separation of different ethnic and regional populations was observed when northern and southern European groups were considered separately and the PCA results were influenced by the inclusion or exclusion of different self-identified population groups including Ashkenazi Jewish, Sardinian and Orcadian ethnic groups. SNP AIM sets were identified that could distinguish the regional and ethnic population groups. Moreover, the studies demonstrated that most allele frequency differences between different European groups could be effectively controlled in analyses using these AIM sets. The European substructure AIMs should be widely applicable to ongoing studies to confirm and delineate specific disease susceptibility candidate regions without the necessity to perform additional genome-wide SNP studies in additional subject sets. PMID:19707526

  5. The relationship between genetic risk variants with brain structure and function in bipolar disorder

    DEFF Research Database (Denmark)

    Pereira, Licia P; Köhler, Cristiano A; de Sousa, Rafael T

    2017-01-01

    Genetic-neuroimaging paradigms could provide insights regarding the pathophysiology of bipolar disorder (BD). Nevertheless, findings have been inconsistent across studies. A systematic review of gene-imaging studies involving individuals with BD was conducted across electronic major databases fro...

  6. Plastid, nuclear and reverse transcriptase sequences in the mitochondrial genome of Oenothera: is genetic information transferred between organelles via RNA?

    Science.gov (United States)

    Schuster, W; Brennicke, A

    1987-01-01

    We describe an open reading frame (ORF) with high homology to reverse transcriptase in the mitochondrial genome of Oenothera. This ORF displays all the characteristics of an active plant mitochondrial gene with a possible ribosome binding site and 39% T in the third codon position. It is located between a sequence fragment from the plastid genome and one of nuclear origin downstream from the gene encoding subunit 5 of the NADH dehydrogenase. The nuclear derived sequence consists of 528 nucleotides from the small ribosomal RNA and contains an expansion segment unique to nuclear rRNAs. The plastid sequence contains part of the ribosomal protein S4 and the complete tRNA(Ser). The observation that only transcribed sequences have been found i more than one subcellular compartment in higher plants suggests that interorganellar transfer of genetic information may occur via RNA and subsequent local reverse transcription and genomic integration. PMID:14650433

  7. Disclosure of personal medical information: differences among parents and affected adults for genetic and nongenetic conditions.

    Science.gov (United States)

    Johnson, Summer; Kass, Nancy E; Natowicz, Marvin

    2005-01-01

    Protecting the confidentiality of medical information has been an issue of great interest in the fields of bioethics, public policy, and law. Few empirical studies have addressed patient experiences and attitudes toward disclosure of private medical information in multiple contexts such as health insurance, employment, and the family. Furthermore, it is unclear whether differences exist in experiences and attitudes about privacy between those living with a serious medical condition versus those who have a child with a medical condition. The study sought to determine whether attitudes and experiences related to medical privacy and confidentiality differ between affected adults and parents of affected children. Interviews were conducted with 296 adults and parents of children with sickle cell disease (SCD), cystic fibrosis (CF), or diabetes mellitus (DM). This cross-sectional study collected data regarding their experiences, attitudes, and beliefs concerning medical privacy and confidentiality. Multinomial logistic regression analysis was conducted on quantitative data. Qualitative analysis was conducted on data from open-ended response items. Parents disclose their child's diagnosis to others more often than affected adults disclose their own disease status. Parents are less likely than affected adults to regret their disclosure, to hope others do not find out, to have been pressured to share information, and to be asked about their disease by employers. Affected adults express greater concern about disclosure, a greater prevalence and greater fear of discrimination, and experience greater pressure from family members to disclose. Clinicians and researchers working with these populations should consider these differences in privacy and disclosure. Further study is necessary to examine the implications of these differences in attitudes and experiences concerning insurance, employment, and social interactions among persons with these conditions.

  8. Working memory deficits in high-functioning adolescents with autism spectrum disorders: neuropsychological and neuroimaging correlates.

    Science.gov (United States)

    Barendse, Evelien M; Hendriks, Marc Ph; Jansen, Jacobus Fa; Backes, Walter H; Hofman, Paul Am; Thoonen, Geert; Kessels, Roy Pc; Aldenkamp, Albert P

    2013-06-04

    Working memory is a temporary storage system under attentional control. It is believed to play a central role in online processing of complex cognitive information and may also play a role in social cognition and interpersonal interactions. Adolescents with a disorder on the autism spectrum display problems in precisely these domains. Social impairments, communication difficulties, and repetitive interests and activities are core domains of autism spectrum disorders (ASD), and executive function problems are often seen throughout the spectrum. As the main cognitive theories of ASD, including the theory of mind deficit hypotheses, weak central coherence account, and the executive dysfunction theory, still fail to explain the broad spectrum of symptoms, a new perspective on the etiology of ASD is needed. Deficits in working memory are central to many theories of psychopathology, and are generally linked to frontal-lobe dysfunction. This article will review neuropsychological and (functional) brain imaging studies on working memory in adolescents with ASD. Although still disputed, it is concluded that within the working memory system specific problems of spatial working memory are often seen in adolescents with ASD. These problems increase when information is more complex and greater demands on working memory are made. Neuroimaging studies indicate a more global working memory processing or connectivity deficiency, rather than a focused deficit in the prefrontal cortex. More research is needed to relate these working memory difficulties and neuroimaging results in ASD to the behavioral difficulties as seen in individuals with a disorder on the autism spectrum.

  9. COINS: An innovative informatics and neuroimaging tool suite built for large heterogeneous datasets

    Directory of Open Access Journals (Sweden)

    Adam eScott

    2011-12-01

    Full Text Available The availability of well-characterized neuroimaging data with large numbers of subjects, especially for clinical populations, is critical to advancing our understanding of the healthy and diseased brain. Such data enables questions to be answered in a much more generalizable manner and also has the potential to yield solutions derived from novel methods that were conceived after the original studies' implementation. Though there is currently growing interest in data sharing, the neuroimaging community has been struggling for years with how to best encourage sharing data across brain imaging studies. With the advent of studies that are much more consistent across sites (e.g., resting fMRI, diffusion tensor imaging, and structural imaging the potential of pooling data across studies continues to gain momentum.At the Mind Research Network (MRN, we have developed the COllaborative Informatics and Neuroimaging Suite (COINS; http://coins.mrn.org to provide researchers with an information system based on an open-source model that includes web-based tools to manage studies, subjects, imaging, clinical data and other assessments. The system currently hosts data from 9 institutions, over 300 studies, over 14,000 subjects, and over 19,000 MRI, MEG, and EEG scan sessions in addition to more than 180,000 clinical assessments. In this paper we provide a description of COINS with comparison to a valuable and popular system known as XNAT. Although there are many similarities between COINS and other electronic data management systems, the differences that may concern researchers in the context of multi-site, multi-organizational data-sharing environments with intuitive ease of use and PHI security are emphasized as important attributes.

  10. The neuroimaging of Leigh syndrome: case series and review of the literature

    International Nuclear Information System (INIS)

    Bonfante, Eliana; Riascos, Roy F.; Koenig, Mary Kay; Adejumo, Rahmat B.; Perinjelil, Vinu

    2016-01-01

    Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

  11. The neuroimaging of Leigh syndrome: case series and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Bonfante, Eliana; Riascos, Roy F. [The University of Texas Medical School at Houston, Department of Diagnostic and Interventional Imaging, Houston, TX (United States); Koenig, Mary Kay [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence Leigh Clinic, Houston, TX (United States); Adejumo, Rahmat B.; Perinjelil, Vinu [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX (United States)

    2016-04-15

    Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

  12. 'Is this knowledge mine and nobody else's? I don't feel that.' Patient views about consent, confidentiality and information-sharing in genetic medicine.

    Science.gov (United States)

    Dheensa, Sandi; Fenwick, Angela; Lucassen, Anneke

    2016-03-01

    In genetic medicine, a patient's diagnosis can mean their family members are also at risk, raising a question about how consent and confidentiality should function in clinical genetics. This question is particularly pressing when it is unclear whether a patient has shared information. Conventionally, healthcare professionals view confidentiality at an individual level and 'disclosure without consent' as the exception, not the rule. The relational joint account model, by contrast, conceptualises genetic information as confidential at the familial level and encourages professionals to take disclosure as the default position. In this study, we interviewed 33 patients about consent and confidentiality and analysed data thematically. Our first theme showed that although participants thought of certain aspects of genetic conditions--for example, the way they affect day-to-day health--as somewhat personal, they perceived genetic information--for example, the mutation in isolation--as familial. Most thought these elements were separable and thought family members had a right to know the latter, identifying a broad range of harms that would justify disclosure. Our second theme illustrated that participants nonetheless had some concerns about what, if any, implications there would be of professionals treating such information as familial and they emphasised the importance of being informed about the way their information would be shared. Based on these results, we recommend that professionals take disclosure as the default position, but make clear that they will treat genetic information as familial during initial consultations and address any concerns therein. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  13. Neuroanatomy of episodic and semantic memory in humans: a brief review of neuroimaging studies.

    Science.gov (United States)

    García-Lázaro, Haydée G; Ramirez-Carmona, Rocio; Lara-Romero, Ruben; Roldan-Valadez, Ernesto

    2012-01-01

    One of the most basic functions in every individual and species is memory. Memory is the process by which information is saved as knowledge and retained for further use as needed. Learning is a neurobiological phenomenon by which we acquire certain information from the outside world and is a precursor to memory. Memory consists of the capacity to encode, store, consolidate, and retrieve information. Recently, memory has been defined as a network of connections whose function is primarily to facilitate the long-lasting persistence of learned environmental cues. In this review, we present a brief description of the current classifications of memory networks with a focus on episodic memory and its anatomical substrate. We also present a brief review of the anatomical basis of memory systems and the most commonly used neuroimaging methods to assess memory, illustrated with magnetic resonance imaging images depicting the hippocampus, temporal lobe, and hippocampal formation, which are the main brain structures participating in memory networks.

  14. The contributions of cognitive neuroscience and neuroimaging to understanding mechanisms of behavior change in addiction.

    Science.gov (United States)

    Morgenstern, Jon; Naqvi, Nasir H; Debellis, Robert; Breiter, Hans C

    2013-06-01

    In the last decade, there has been an upsurge of interest in understanding the mechanisms of behavior change (MOBC) and effective behavioral interventions as a strategy to improve addiction-treatment efficacy. However, there remains considerable uncertainty about how treatment research should proceed to address the MOBC issue. In this article, we argue that limitations in the underlying models of addiction that inform behavioral treatment pose an obstacle to elucidating MOBC. We consider how advances in the cognitive neuroscience of addiction offer an alternative conceptual and methodological approach to studying the psychological processes that characterize addiction, and how such advances could inform treatment process research. In addition, we review neuroimaging studies that have tested aspects of neurocognitive theories as a strategy to inform addiction therapies and discuss future directions for transdisciplinary collaborations across cognitive neuroscience and MOBC research. 2013 APA, all rights reserved

  15. Improving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype.

    Science.gov (United States)

    Malcov, Mira; Gold, Veronica; Peleg, Sagit; Frumkin, Tsvia; Azem, Foad; Amit, Ami; Ben-Yosef, Dalit; Yaron, Yuval; Reches, Adi; Barda, Shimi; Kleiman, Sandra E; Yogev, Leah; Hauser, Ron

    2017-04-26

    The study is aimed to describe a novel strategy that increases the accuracy and reliability of PGD in patients using sperm donation by pre-selecting the donor whose haplotype does not overlap the carrier's one. A panel of 4-9 informative polymorphic markers, flanking the mutation in carriers of autosomal dominant/X-linked disorders, was tested in DNA of sperm donors before PGD. Whenever the lengths of donors' repeats overlapped those of the women, additional donors' DNA samples were analyzed. The donor that demonstrated the minimal overlapping with the patient was selected for IVF. In 8 out of 17 carriers the markers of the initially chosen donors overlapped the patients' alleles and 2-8 additional sperm donors for each patient were haplotyped. The selection of additional sperm donors increased the number of informative markers and reduced misdiagnosis risk from 6.00% ± 7.48 to 0.48% ±0.68. The PGD results were confirmed and no misdiagnosis was detected. Our study demonstrates that pre-selecting a sperm donor whose haplotype has minimal overlapping with the female's haplotype, is critical for reducing the misdiagnosis risk and ensuring a reliable PGD. This strategy may contribute to prevent the transmission of affected IVF-PGD embryos using a simple and economical procedure. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. DNA testing of donors was approved by the institutional Helsinki committee (registration number 319-08TLV, 2008). The present study was approved by the institutional Helsinki committee (registration number 0385-13TLV, 2013).

  16. Functional neuroimaging of belief, disbelief, and uncertainty.

    Science.gov (United States)

    Harris, Sam; Sheth, Sameer A; Cohen, Mark S

    2008-02-01

    The difference between believing and disbelieving a proposition is one of the most potent regulators of human behavior and emotion. When one accepts a statement as true, it becomes the basis for further thought and action; rejected as false, it remains a string of words. The purpose of this study was to differentiate belief, disbelief, and uncertainty at the level of the brain. We used functional magnetic resonance imaging (fMRI) to study the brains of 14 adults while they judged written statements to be "true" (belief), "false" (disbelief), or "undecidable" (uncertainty). To characterize belief, disbelief, and uncertainty in a content-independent manner, we included statements from a wide range of categories: autobiographical, mathematical, geographical, religious, ethical, semantic, and factual. The states of belief, disbelief, and uncertainty differentially activated distinct regions of the prefrontal and parietal cortices, as well as the basal ganglia. Belief and disbelief differ from uncertainty in that both provide information that can subsequently inform behavior and emotion. The mechanism underlying this difference appears to involve the anterior cingulate cortex and the caudate. Although many areas of higher cognition are likely involved in assessing the truth-value of linguistic propositions, the final acceptance of a statement as "true" or its rejection as "false" appears to rely on more primitive, hedonic processing in the medial prefrontal cortex and the anterior insula. Truth may be beauty, and beauty truth, in more than a metaphorical sense, and false propositions may actually disgust us.

  17. High incidence of monozygotic twinning after assisted reproduction is related to genetic information, but not to assisted reproduction technology itself

    Czech Academy of Sciences Publication Activity Database

    Sobek Jr., A.; Zbořilová, B.; Procházka, M.; Šilhánová, E.; Koutná, O.; Klásková, E.; Tkadlec, Emil; Sobek, A.

    2015-01-01

    Roč. 103, č. 3 (2015), s. 756-760 ISSN 0015-0282 Institutional support: RVO:68081766 Keywords : monozygotic twins * genetics * assisted reproduction techniques * infertility Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.426, year: 2015

  18. The effect of genetic test-based risk information on behavioral outcomes: A critical examination of failed trials and a call to action.

    Science.gov (United States)

    Austin, Jehannine

    2015-12-01

    Encouraging individuals at risk for common complex disease like heart disease, cancer, and diabetes to adopt lifestyle changes (e.g., smoking cessation, exercise, proper nutrition, increased screening) could be powerful public health tools to decrease the enormous personal and economic burden of these conditions. Theoretically, genetic risk information appears to be a compelling tool that could be used to provoke at-risk individuals to adopt these lifestyle changes. Unfortunately, however, numerous studies now have shown that providing individuals with genetic test-based risk information has little to no impact on their behavior. In this article (a commentary not a systematic review), the failed trials in which genetic information has been used as a tool to induce behavior change will be critically examined in order to identify new and potentially more effective ways forward. © 2015 Wiley Periodicals, Inc.

  19. Pain perception and hypnosis: findings from recent functional neuroimaging studies.

    Science.gov (United States)

    Del Casale, Antonio; Ferracuti, Stefano; Rapinesi, Chiara; Serata, Daniele; Caltagirone, Saverio Simone; Savoja, Valeria; Piacentino, Daria; Callovini, Gemma; Manfredi, Giovanni; Sani, Gabriele; Kotzalidis, Georgios D; Girardi, Paolo

    2015-01-01

    Hypnosis modulates pain perception and tolerance by affecting cortical and subcortical activity in brain regions involved in these processes. By reviewing functional neuroimaging studies focusing on pain perception under hypnosis, the authors aimed to identify brain activation-deactivation patterns occurring in hypnosis-modulated pain conditions. Different changes in brain functionality occurred throughout all components of the pain network and other brain areas. The anterior cingulate cortex appears to be central in modulating pain circuitry activity under hypnosis. Most studies also showed that the neural functions of the prefrontal, insular, and somatosensory cortices are consistently modified during hypnosis-modulated pain conditions. Functional neuroimaging studies support the clinical use of hypnosis in the management of pain conditions.

  20. Predicting Age Using Neuroimaging: Innovative Brain Ageing Biomarkers.

    Science.gov (United States)

    Cole, James H; Franke, Katja

    2017-12-01

    The brain changes as we age and these changes are associated with functional deterioration and neurodegenerative disease. It is vital that we better understand individual differences in the brain ageing process; hence, techniques for making individualised predictions of brain ageing have been developed. We present evidence supporting the use of neuroimaging-based 'brain age' as a biomarker of an individual's brain health. Increasingly, research is showing how brain disease or poor physical health negatively impacts brain age. Importantly, recent evidence shows that having an 'older'-appearing brain relates to advanced physiological and cognitive ageing and the risk of mortality. We discuss controversies surrounding brain age and highlight emerging trends such as the use of multimodality neuroimaging and the employment of 'deep learning' methods. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. Functional Neuro-Imaging and Post-Traumatic Olfactory Impairment

    Science.gov (United States)

    Roberts, Richard J.; Sheehan, William; Thurber, Steven; Roberts, Mary Ann

    2010-01-01

    Objective: To evaluate via a research literature survey the anterior neurological significance of decreased olfactory functioning following traumatic brain injuries. Materials and Methods: A computer literature review was performed to locate all functional neuro-imaging studies on patients with post-traumatic anosmia and other olfactory deficits. Results: A convergence of findings from nine functional neuro-imaging studies indicating evidence for reduced metabolic activity at rest or relative hypo-perfusion during olfactory activations. Hypo-activation of the prefrontal regions was apparent in all nine post-traumatic samples, with three samples yielding evidence of reduced activity in the temporal regions as well. Conclusions: The practical ramifications include the reasonable hypothesis that a total anosmic head trauma patient likely has frontal lobe involvement. PMID:21716782

  2. Incidental Findings in Neuroimaging: Ethical and Medicolegal Considerations

    Directory of Open Access Journals (Sweden)

    Lawrence Leung

    2013-01-01

    Full Text Available 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.

  3. Cognitive and emotional processes during dreaming: a neuroimaging view.

    Science.gov (United States)

    Desseilles, Martin; Dang-Vu, Thien Thanh; Sterpenich, Virginie; Schwartz, Sophie

    2011-12-01

    Dream is a state of consciousness characterized by internally-generated sensory, cognitive and emotional experiences occurring during sleep. Dream reports tend to be particularly abundant, with complex, emotional, and perceptually vivid experiences after awakenings from rapid eye movement (REM) sleep. This is why our current knowledge of the cerebral correlates of dreaming, mainly derives from studies of REM sleep. Neuroimaging results show that REM sleep is characterized by a specific pattern of regional brain activity. We demonstrate that this heterogeneous distribution of brain activity during sleep explains many typical features in dreams. Reciprocally, specific dream characteristics suggest the activation of selective brain regions during sleep. Such an integration of neuroimaging data of human sleep, mental imagery, and the content of dreams is critical for current models of dreaming; it also provides neurobiological support for an implication of sleep and dreaming in some important functions such as emotional regulation. Copyright © 2010 Elsevier Inc. All rights reserved.

  4. The utility of neuroimaging in the management of dementia

    Directory of Open Access Journals (Sweden)

    Uduak E Williams

    2015-01-01

    Full Text Available Dementia is a syndrome of progressive dysfunction of two or more cognitive domains associated with impairment of activities of daily living. An understanding of the pathophysiology of dementia and its early diagnosis is important in the pursuit of possible disease modifying therapy for dementia. Neuroimaging has greatly transformed this field of research as its function has changed from a mere tool for diagnosing treatable causes of dementia to an instrument for pre-symptomatic diagnosis of dementia. This review focuses on the diagnostic utility of neuroimaging in the management of progressive dementias. Structural imaging techniques like computerized tomography scan and magnetic resonance imaging highlights the anatomical, structural and volumetric details of the brain; while functional imaging techniques such as positron emission tomography, arterial spin labeling, single photon emission computerized tomography and blood oxygen level-dependent functional magnetic resonance imaging focuses on chemistry, circulatory status and physiology of the different brain structures and regions.

  5. Nervous System Injury and Neuroimaging of Zika Virus Infection

    Science.gov (United States)

    Wu, Shanshan; Zeng, Yu; Lerner, Alexander; Gao, Bo; Law, Meng

    2018-01-01

    In 2016, World Health Organization announced Zika virus infection and its neurological sequalae are a public health emergency of global scope. Preliminary studies have confirmed a relationship between Zika virus infection and certain neurological disorders, including microcephaly and Guillain–Barre syndrome (GBS). The neuroimaging features of microcephaly secondary to Zika virus infection include calcifications at the junction of gray–white matter and subcortical white matter with associated cortical abnormalities, diminution of white matter, large ventricles with or without hydrocephalus, cortical malformations, hypoplasia of cerebellum and brainstem, and enlargement of cerebellomedullary cistern. Contrast enhancement of the cauda equine nerve roots is the typical neuroimaging finding of GBS associated with Zika virus. This review describes the nervous system disorders and associated imaging findings seen in Zika virus infection, with the aim to improve the understanding of this disease. Imaging plays a key role on accurate diagnosis and prognostic evaluation of this disease. PMID:29740383

  6. Neuroimaging the Effectiveness of Substance Use Disorder Treatments.

    Science.gov (United States)

    Cabrera, Elizabeth A; Wiers, Corinde E; Lindgren, Elsa; Miller, Gregg; Volkow, Nora D; Wang, Gene-Jack

    2016-09-01

    Neuroimaging techniques to measure the function and biochemistry of the human brain such as positron emission tomography (PET), proton magnetic resonance spectroscopy ((1)H MRS), and functional magnetic resonance imaging (fMRI), are powerful tools for assessing neurobiological mechanisms underlying the response to treatments in substance use disorders. Here, we review the neuroimaging literature on pharmacological and behavioral treatment in substance use disorder. We focus on neural effects of medications that reduce craving (e.g., naltrexone, bupropion hydrochloride, baclofen, methadone, varenicline) and that improve cognitive control (e.g., modafinil, N-acetylcysteine), of behavioral treatments for substance use disorders (e.g., cognitive bias modification training, virtual reality, motivational interventions) and neuromodulatory interventions such as neurofeedback and transcranial magnetic stimulation. A consistent finding for the effectiveness of therapeutic interventions identifies the improvement of executive control networks and the dampening of limbic activation, highlighting their values as targets for therapeutic interventions in substance use disorders.

  7. Public Awareness of Direct-to-Consumer Genetic Tests: Findings from the 2013 U.S. Health Information National Trends Survey.

    Science.gov (United States)

    Agurs-Collins, Tanya; Ferrer, Rebecca; Ottenbacher, Allison; Waters, Erika A; O'Connell, Mary E; Hamilton, Jada G

    2015-12-01

    Although the availability of direct-to-consumer (DTC) genetic testing has increased in recent years, the general public's awareness of this testing is not well understood. This study examined levels of public awareness of DTC genetic testing, sources of information about testing, and psychosocial factors associated with awareness of testing in the USA. Data were obtained from the nationally representative 2013 U.S. Health Information National Trends Survey. Guided by a social-cognitive conceptual framework, univariable and multivariable logistic regressions were conducted to identify factors associated with awareness of DTC genetic tests. Of 3185 participants, 35.6% were aware of DTC genetic tests, with the majority learning about these tests through radio, television, and the Internet. In the final adjusted model, participants with annual incomes of $99,999 or less had lower odds of being aware of DTC genetic testing (ORs ranging from 0.46-0.61) than did those participants with incomes of $100,000 or more. The odds of awareness of DTC genetic tests were significantly higher for those who actively seek cancer information (OR=1.91, 95% CI=1.36-2.69), use the Internet (OR=1.81, 95% CI=1.05-3.13), and have high numeracy skills (OR=1.67, 95% CI=1.17-2.38). It will be critical for healthcare researchers and practitioners to understand predictors and consequences of the public's awareness of DTC genetic tests, as well as how such awareness may translate into DTC genetic testing uptake, health behavior change, and ultimately disease prevention.

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

    NARCIS (Netherlands)

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

    2017-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    D. Val-Laillet

    2015-01-01

    Full Text Available 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 as dopaminergic alterations have been described in obese subjects, in parallel with increased activation of reward brain areas in response to palatable food cues. Elevated reward region responsivity may trigger food craving and predict future weight gain. This opens the way to prevention studies using functional and molecular neuroimaging to perform early diagnostics and to phenotype subjects at risk by exploring different neurobehavioral dimensions of the food choices and motivation processes. In the first part of this review, advantages and limitations of neuroimaging techniques, such as functional magnetic resonance imaging (fMRI, positron emission tomography (PET, single photon emission computed tomography (SPECT, pharmacogenetic fMRI and functional near-infrared spectroscopy (fNIRS will be discussed in the context of recent work dealing with eating behavior, with a particular focus on obesity. In the second part of the review, non-invasive strategies to modulate food-related brain processes and functions will be presented. At the leading edge of non-invasive brain-based technologies is real-time fMRI (rtfMRI neurofeedback, which is a powerful tool to better understand the complexity of human brain–behavior relationships. rtfMRI, alone or when combined with other techniques and tools such as EEG and cognitive therapy, could be used to alter neural plasticity and learned behavior to optimize and/or restore healthy cognition and eating behavior. Other promising non-invasive neuromodulation approaches being explored are repetitive transcranial magnetic stimulation (rTMS and transcranial direct-current stimulation (tDCS. Converging evidence points at

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

    Science.gov (United States)

    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 as dopaminergic alterations have been described in obese subjects, in parallel with increased activation of reward brain areas in response to palatable food cues. Elevated reward region responsivity may trigger food craving and predict future weight gain. This opens the way to prevention studies using functional and molecular neuroimaging to perform early diagnostics and to phenotype subjects at risk by exploring different neurobehavioral dimensions of the food choices and motivation processes. In the first part of this review, advantages and limitations of neuroimaging techniques, such as functional magnetic resonance imaging (fMRI), positron emission tomography (PET), single photon emission computed tomography (SPECT), pharmacogenetic fMRI and functional near-infrared spectroscopy (fNIRS) will be discussed in the context of recent work dealing with eating behavior, with a particular focus on obesity. In the second part of the review, non-invasive strategies to modulate food-related brain processes and functions will be presented. At the leading edge of non-invasive brain-based technologies is real-time fMRI (rtfMRI) neurofeedback, which is a powerful tool to better understand the complexity of human brain-behavior relationships. rtfMRI, alone or when combined with other techniques and tools such as EEG and cognitive therapy, could be used to alter neural plasticity and learned behavior to optimize and/or restore healthy cognition and eating behavior. Other promising non-invasive neuromodulation approaches being explored are repetitive transcranial magnetic stimulation (rTMS) and transcranial direct-current stimulation (tDCS). Converging evidence points at the value of

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

    Science.gov (United States)

    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 as dopaminergic alterations have been described in obese subjects, in parallel with increased activation of reward brain areas in response to palatable food cues. Elevated reward region responsivity may trigger food craving and predict future weight gain. This opens the way to prevention studies using functional and molecular neuroimaging to perform early diagnostics and to phenotype subjects at risk by exploring different neurobehavioral dimensions of the food choices and motivation processes. In the first part of this review, advantages and limitations of neuroimaging techniques, such as functional magnetic resonance imaging (fMRI), positron emission tomography (PET), single photon emission computed tomography (SPECT), pharmacogenetic fMRI and functional near-infrared spectroscopy (fNIRS) will be discussed in the context of recent work dealing with eating behavior, with a particular focus on obesity. In the second part of the review, non-invasive strategies to modulate food-related brain processes and functions will be presented. At the leading edge of non-invasive brain-based technologies is real-time fMRI (rtfMRI) neurofeedback, which is a powerful tool to better understand the complexity of human brain–behavior relationships. rtfMRI, alone or when combined with other techniques and tools such as EEG and cognitive therapy, could be used to alter neural plasticity and learned behavior to optimize and/or restore healthy cognition and eating behavior. Other promising non-invasive neuromodulation approaches being explored are repetitive transcranial magnetic stimulation (rTMS) and transcranial direct-current stimulation (tDCS). Converging evidence points at the value of

  12. [Genetic and neuroendocrine aspects in autism spectrum disorder].

    Science.gov (United States)

    Oviedo, Norma; Manuel-Apolinar, Leticia; de la Chesnaye, Elsa; Guerra-Araiza, Christian

    The autism spectrum disorder (ASD) was described in 1943 and is defined as a developmental disorder that affects social interaction and communication. It is usually identified in early stages of development from 18 months of age. Currently, autism is considered a neurological disorder with a spectrum covering cases of different degrees, which is associated with genetic factors, not genetic and environmental. Among the genetic factors, various syndromes have been described that are associated with this disorder. Also, the neurobiology of autism has been studied at the genetic, neurophysiological, neurochemical and neuropathological levels. Neuroimaging techniques have shown multiple structural abnormalities in these patients. There have also been changes in the serotonergic, GABAergic, catecholaminergic and cholinergic systems related to this disorder. This paper presents an update of the information presented in the genetic and neuroendocrine aspects of autism spectrum disorder. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  13. Online Open Neuroimaging Mass Meta-Analysis with a Wiki

    DEFF Research Database (Denmark)

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

    2015-01-01

    We describe a system for meta-analysis where a wiki stores numerical data in a simple comma-separated values format and a web service performs the numerical statistical computation. We initially apply the system on multiple meta-analyses of structural neuroimaging data results. The described system...... allows for mass meta-analysis, e.g., meta-analysis across multiple brain regions and multiple mental disorders providing an overview of important relationships and their uncertainties in a collaborative environment....

  14. Neuroimaging in aging: brain maintenance [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Lars Nyberg

    2017-07-01

    Full Text Available Neuroimaging studies of the aging brain provide support that the strongest predictor of preserved memory and cognition in older age is brain maintenance, or relative lack of brain pathology. Evidence for brain maintenance comes from different levels of examination, but up to now relatively few studies have used a longitudinal design. Examining factors that promote brain maintenance in aging is a critical task for the future and may be combined with the use of new techniques for multimodal imaging.

  15. Partial Least Squares tutorial for analyzing neuroimaging data

    Directory of Open Access Journals (Sweden)

    Patricia Van Roon

    2014-09-01

    Full Text Available Partial least squares (PLS has become a respected and meaningful soft modeling analysis technique that can be applied to very large datasets where the number of factors or variables is greater than the number of observations. Current biometric studies (e.g., eye movements, EKG, body movements, EEG are often of this nature. PLS eliminates the multiple linear regression issues of over-fitting data by finding a few underlying or latent variables (factors that account for most of the variation in the data. In real-world applications, where linear models do not always apply, PLS can model the non-linear relationship well. This tutorial introduces two PLS methods, PLS Correlation (PLSC and PLS Regression (PLSR and their applications in data analysis which are illustrated with neuroimaging examples. Both methods provide straightforward and comprehensible techniques for determining and modeling relationships between two multivariate data blocks by finding latent variables that best describes the relationships. In the examples, the PLSC will analyze the relationship between neuroimaging data such as Event-Related Potential (ERP amplitude averages from different locations on the scalp with their corresponding behavioural data. Using the same data, the PLSR will be used to model the relationship between neuroimaging and behavioural data. This model will be able to predict future behaviour solely from available neuroimaging data. To find latent variables, Singular Value Decomposition (SVD for PLSC and Non-linear Iterative PArtial Least Squares (NIPALS for PLSR are implemented in this tutorial. SVD decomposes the large data block into three manageable matrices containing a diagonal set of singular values, as well as left and right singular vectors. For PLSR, NIPALS algorithms are used because it provides amore precise estimation of the latent variables. Mathematica notebooks are provided for each PLS method with clearly labeled sections and subsections. The

  16. Making Individual Prognoses in Psychiatry Using Neuroimaging and Machine Learning.

    Science.gov (United States)

    Janssen, Ronald J; Mourão-Miranda, Janaina; Schnack, Hugo G

    2018-04-22

    Psychiatric prognosis is a difficult problem. Making a prognosis requires looking far into the future, as opposed to making a diagnosis, which is concerned with the current state. During the follow-up period, many factors will influence the course of the disease. Combined with the usually scarcer longitudinal data and the variability in the definition of outcomes/transition, this makes prognostic predictions a challenging endeavor. Employing neuroimaging data in this endeavor introduces the additional hurdle of high dimensionality. Machine-learning techniques are especially suited to tackle this challenging problem. This review starts with a brief introduction to machine learning in the context of its application to clinical neuroimaging data. We highlight a few issues that are especially relevant for prediction of outcome and transition using neuroimaging. We then review the literature that discusses the application of machine learning for this purpose. Critical examination of the studies and their results with respect to the relevant issues revealed the following: 1) there is growing evidence for the prognostic capability of machine-learning-based models using neuroimaging; and 2) reported accuracies may be too optimistic owing to small sample sizes and the lack of independent test samples. Finally, we discuss options to improve the reliability of (prognostic) prediction models. These include new methodologies and multimodal modeling. Paramount, however, is our conclusion that future work will need to provide properly (cross-)validated accuracy estimates of models trained on sufficiently large datasets. Nevertheless, with the technological advances enabling acquisition of large databases of patients and healthy subjects, machine learning represents a powerful tool in the search for psychiatric biomarkers. Copyright © 2018 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  17. Neuroimaging in human MDMA (Ecstasy) users: A cortical model

    Science.gov (United States)

    Cowan, Ronald L; Roberts, Deanne M; Joers, James M

    2009-01-01

    MDMA (3,4 methylenedioxymethamphetamine) has been used by millions of people worldwide as a recreational drug. MDMA and Ecstasy are often used synonymously but it is important to note that the purity of Ecstasy sold as MDMA is not certain. MDMA use is of public health concern, not so much because MDMA produces a common or severe dependence syndrome, but rather because rodent and non-human primate studies have indicated that MDMA (when administered at certain dosages and intervals) can cause long-lasting reductions in markers of brain serotonin (5-HT) that appear specific to fine diameter axons arising largely from the dorsal raphe nucleus (DR). Given the popularity of MDMA, the potential for the drug to produce long-lasting or permanent 5-HT axon damage or loss, and the widespread role of 5-HT function in the brain, there is a great need for a better understanding of brain function in human users of this drug. To this end, neuropsychological, neuroendocrine, and neuroimaging studies have all suggested that human MDMA users may have long-lasting changes in brain function consistent with 5-HT toxicity. Data from animal models leads to testable hypotheses regarding MDMA effects on the human brain. Because neuropsychological and neuroimaging findings have focused on the neocortex, a cortical model is developed to provide context for designing and interpreting neuroimaging studies in MDMA users. Aspects of the model are supported by the available neuroimaging data but there are controversial findings in some areas and most findings have not been replicated across different laboratories and using different modalities. This paper reviews existing findings in the context of a cortical model and suggests directions for future research. PMID:18991874

  18. The utility of neuroimaging in the management of dementia

    OpenAIRE

    Uduak E Williams; Ekanem E Philip Ephraim; Sidney K Oparah

    2015-01-01

    Dementia is a syndrome of progressive dysfunction of two or more cognitive domains associated with impairment of activities of daily living. An understanding of the pathophysiology of dementia and its early diagnosis is important in the pursuit of possible disease modifying therapy for dementia. Neuroimaging has greatly transformed this field of research as its function has changed from a mere tool for diagnosing treatable causes of demen...

  19. The Power of Neuroimaging Biomarkers for Screening Frontotemporal Dementia

    OpenAIRE

    McMillan, Corey T.; Avants, Brian B.; Cook, Philip; Ungar, Lyle; Trojanowski, John Q.; Grossman, Murray

    2014-01-01

    Frontotemporal dementia (FTD) is a clinically and pathologically heterogeneous neurodegenerative disease that can result from either frontotemporal lobar degeneration (FTLD) or Alzheimer’s disease (AD) pathology. It is critical to establish statistically powerful biomarkers that can achieve substantial cost-savings and increase feasibility of clinical trials. We assessed three broad categories of neuroimaging methods to screen underlying FTLD and AD pathology in a clinical FTD series: global ...

  20. Functional neuroimaging of Alzheimer's disease and other dementias

    International Nuclear Information System (INIS)

    Wang Ruimin

    2001-01-01

    Dementing illnesses comprise Alzheimer's disease (AD), Pick's disease, Multi-infarct dementia (MID) and other neurological disorders. These diseases have different clinical characters respectively. Neuropsychological examinations can help to diagnose and differential diagnose dementias. The development of neuroimaging dementias is more and more rapid. 18 F-FDG PET method shows neo-cortical hypometabolism occurring in the biparietal-temporal lobes and left-right asymmetry of AD patients in the early stage. It can also differential diagnose Ad from other dementias

  1. Human fear conditioning and extinction in neuroimaging: a systematic review.

    Directory of Open Access Journals (Sweden)

    Christina Sehlmeyer

    Full Text Available Fear conditioning and extinction are basic forms of associative learning that have gained considerable clinical relevance in enhancing our understanding of anxiety disorders and facilitating their treatment. Modern neuroimaging techniques have significantly aided the identification of anatomical structures and networks involved in fear conditioning. On closer inspection, there is considerable variation in methodology and results between studies. This systematic review provides an overview of the current neuroimaging literature on fear conditioning and extinction on healthy subjects, taking into account methodological issues such as the conditioning paradigm. A Pubmed search, as of December 2008, was performed and supplemented by manual searches of bibliographies of key articles. Two independent reviewers made the final study selection and data extraction. A total of 46 studies on cued fear conditioning and/or extinction on healthy volunteers using positron emission tomography or functional magnetic resonance imaging were reviewed. The influence of specific experimental factors, such as contingency and timing parameters, assessment of conditioned responses, and characteristics of conditioned and unconditioned stimuli, on cerebral activation patterns was examined. Results were summarized descriptively. A network consisting of fear-related brain areas, such as amygdala, insula, and anterior cingulate cortex, is activated independently of design parameters. However, some neuroimaging studies do not report these findings in the presence of methodological heterogeneities. Furthermore, other brain areas are differentially activated, depending on specific design parameters. These include stronger hippocampal activation in trace conditioning and tactile stimulation. Furthermore, tactile unconditioned stimuli enhance activation of pain related, motor, and somatosensory areas. Differences concerning experimental factors may partly explain the variance

  2. Cross-View Neuroimage Pattern Analysis for Alzheimer's Disease Staging

    Directory of Open Access Journals (Sweden)

    Sidong eLiu

    2016-02-01

    Full Text Available The research on staging of pre-symptomatic and prodromal phase of neurological disorders, e.g., Alzheimer's disease (AD, is essential for prevention of dementia. New strategies for AD staging with a focus on early detection, are demanded to optimize potential efficacy of disease-modifying therapies that can halt or slow the disease progression. Recently, neuroimaging are increasingly used as additional research-based markers to detect AD onset and predict conversion of MCI and normal control (NC to AD. Researchers have proposed a variety of neuroimaging biomarkers to characterize the patterns of the pathology of AD and MCI, and suggested that multi-view neuroimaging biomarkers could lead to better performance than single-view biomarkers in AD staging. However, it is still unclear what leads to such synergy and how to preserve or maximize. In an attempt to answer these questions, we proposed a cross-view pattern analysis framework for investigating the synergy between different neuroimaging biomarkers. We quantitatively analyzed 9 types of biomarkers derived from FDG-PET and T1-MRI, and evaluated their performance in a task of classifying AD, MCI and NC subjects obtained from the ADNI baseline cohort. The experiment results showed that these biomarkers could depict the pathology of AD from different perspectives, and output distinct patterns that are significantly associated with the disease progression. Most importantly, we found that these features could be separated into clusters, each depicting a particular aspect; and the inter-cluster features could always achieve better performance than the intra-cluster features in AD staging.

  3. Hybrid attribute-based recommender system for learning material using genetic algorithm and a multidimensional information model

    Directory of Open Access Journals (Sweden)

    Mojtaba Salehi

    2013-03-01

    Full Text Available In recent years, the explosion of learning materials in the web-based educational systems has caused difficulty of locating appropriate learning materials to learners. A personalized recommendation is an enabling mechanism to overcome information overload occurred in the new learning environments and deliver suitable materials to learners. Since users express their opinions based on some specific attributes of items, this paper proposes a hybrid recommender system for learning materials based on their attributes to improve the accuracy and quality of recommendation. The presented system has two main modules: explicit attribute-based recommender and implicit attribute-based recommender. In the first module, weights of implicit or latent attributes of materials for learner are considered as chromosomes in genetic algorithm then this algorithm optimizes the weights according to historical rating. Then, recommendation is generated by Nearest Neighborhood Algorithm (NNA using the optimized weight vectors implicit attributes that represent the opinions of learners. In the second, preference matrix (PM is introduced that can model the interests of learner based on explicit attributes of learning materials in a multidimensional information model. Then, a new similarity measure between PMs is introduced and recommendations are generated by NNA. The experimental results show that our proposed method outperforms current algorithms on accuracy measures and can alleviate some problems such as cold-start and sparsity.

  4. [Using value of information analysis in decision making about applied research. The case of genetic screening for hemochromatosis in Germany].

    Science.gov (United States)

    Rogowski, W H; Grosse, S D; Meyer, E; John, J; Palmer, S

    2012-05-01

    Public decision makers face demands to invest in applied research in order to accelerate the adoption of new genetic tests. However, such an investment is profitable only if the results gained from further investigations have a significant impact on health care practice. An upper limit for the value of additional information aimed at improving the basis for reimbursement decisions is given by the expected value of perfect information (EVPI). This study illustrates the significance of the concept of EVPI on the basis of a probabilistic cost-effectiveness model of screening for hereditary hemochromatosis among German men. In the present example, population-based screening can barely be recommended at threshold values of 50,000 or 100,000 Euro per life year gained and also the value of additional research which might cause this decision to be overturned is small: At the mentioned threshold values, the EVPI in the German public health care system was ca. 500,000 and 2,200,000 Euro, respectively. An analysis of EVPI by individual parameters or groups of parameters shows that additional research about adherence to preventive phlebotomy could potentially provide the highest benefit. The potential value of further research also depends on methodological assumptions regarding the decision maker's time horizon as well as on scenarios with an impact on the number of affected patients and the cost-effectiveness of screening.

  5. Neuroimaging Studies Illustrate the Commonalities Between Ageing and Brain Diseases.

    Science.gov (United States)

    Cole, James H

    2018-07-01

    The lack of specificity in neuroimaging studies of neurological and psychiatric diseases suggests that these different diseases have more in common than is generally considered. Potentially, features that are secondary effects of different pathological processes may share common neurobiological underpinnings. Intriguingly, many of these mechanisms are also observed in studies of normal (i.e., non-pathological) brain ageing. Different brain diseases may be causing premature or accelerated ageing to the brain, an idea that is supported by a line of "brain ageing" research that combines neuroimaging data with machine learning analysis. In reviewing this field, I conclude that such observations could have important implications, suggesting that we should shift experimental paradigm: away from characterizing the average case-control brain differences resulting from a disease toward methods that place individuals in their age-appropriate context. This will also lead naturally to clinical applications, whereby neuroimaging can contribute to a personalized-medicine approach to improve brain health. © 2018 WILEY Periodicals, Inc.

  6. [Functional neuroimaging of the brain structures associated with language in healthy individuals and patients with post-stroke aphasia].

    Science.gov (United States)

    Alferova, V V; Mayorova, L A; Ivanova, E G; Guekht, A B; Shklovskij, V M

    2017-01-01

    The introduction of non-invasive functional neuroimaging techniques such as functional magnetic resonance imaging (fMRI), in the practice of scientific and clinical research can increase our knowledge about the organization of cognitive processes, including language, in normal and reorganization of these cognitive functions in post-stroke aphasia. The article discusses the results of fMRI studies of functional organization of the cortex of a healthy adult's brain in the processing of various voice information as well as the main types of speech reorganization after post-stroke aphasia in different stroke periods. The concepts of 'effective' and 'ineffective' brain plasticity in post-stroke aphasia were considered. It was concluded that there was an urgent need for further comprehensive studies, including neuropsychological testing and several complementary methods of functional neuroimaging, to develop a phased treatment plan and neurorehabilitation of patients with post-stroke aphasia.

  7. High Throughput Neuro-Imaging Informatics

    Directory of Open Access Journals (Sweden)

    Michael I Miller

    2013-12-01

    Full Text Available This paper describes neuroinformatics technologies at 1 mm anatomical scale based on high throughput 3D functional and structural imaging technologies of the human brain. The core is an abstract pipeline for converting functional and structural imagery into their high dimensional neuroinformatic representations index containing O(E3-E4 discriminating dimensions. The pipeline is based on advanced image analysis coupled to digital knowledge representations in the form of dense atlases of the human brain at gross anatomical scale. We demonstrate the integration of these high-dimensional representations with machine learning methods, which have become the mainstay of other fields of science including genomics as well as social networks. Such high throughput facilities have the potential to alter the way medical images are stored and utilized in radiological workflows. The neuroinformatics pipeline is used to examine cross-sectional and personalized analyses of neuropsychiatric illnesses in clinical applications as well as longitudinal studies. We demonstrate the use of high throughput machine learning methods for supporting (i cross-sectional image analysis to evaluate the health status of individual subjects with respect to the population data, (ii integration of image and non-image information for diagnosis and prognosis.

  8. The central extended amygdala in fear and anxiety: Closing the gap between mechanistic and neuroimaging research.

    Science.gov (United States)

    Fox, Andrew S; Shackman, Alexander J

    2017-11-30

    Anxiety disorders impose a staggering burden on public health, underscoring the need to develop a deeper understanding of the distributed neural circuits underlying extreme fear and anxiety. Recent work highlights the importance of the central extended amygdala, including the central nucleus of the amygdala (Ce) and neighboring bed nucleus of the stria terminalis (BST). Anatomical data indicate that the Ce and BST form a tightly interconnected unit, where different kinds of threat-relevant information can be integrated to assemble states of fear and anxiety. Neuroimaging studies show that the Ce and BST are engaged by a broad spectrum of potentially threat-relevant cues. Mechanistic work demonstrates that the Ce and BST are critically involved in organizing defensive responses to a wide range of threats. Studies in rodents have begun to reveal the specific molecules, cells, and microcircuits within the central extended amygdala that underlie signs of fear and anxiety, but the relevance of these tantalizing discoveries to human experience and disease remains unclear. Using a combination of focal perturbations and whole-brain imaging, a new generation of nonhuman primate studies is beginning to close this gap. This work opens the door to discovering the mechanisms underlying neuroimaging measures linked to pathological fear and anxiety, to understanding how the Ce and BST interact with one another and with distal brain regions to govern defensive responses to threat, and to developing improved intervention strategies. Copyright © 2017. Published by Elsevier B.V.

  9. Sparse multivariate measures of similarity between intra-modal neuroimaging datasets

    Directory of Open Access Journals (Sweden)

    Maria J. Rosa

    2015-10-01

    Full Text Available An increasing number of neuroimaging studies are now based on either combining more than one data modality (inter-modal or combining more than one measurement from the same modality (intra-modal. To date, most intra-modal studies using multivariate statistics have focused on differences between datasets, for instance relying on classifiers to differentiate between effects in the data. However, to fully characterize these effects, multivariate methods able to measure similarities between datasets are needed. One classical technique for estimating the relationship between two datasets is canonical correlation analysis (CCA. However, in the context of high-dimensional data the application of CCA is extremely challenging. A recent extension of CCA, sparse CCA (SCCA, overcomes this limitation, by regularizing the model parameters while yielding a sparse solution. In this work, we modify SCCA with the aim of facilitating its application to high-dimensional neuroimaging data and finding meaningful multivariate image-to-image correspondences in intra-modal studies. In particular, we show how the optimal subset of variables can be estimated independently and we look at the information encoded in more than one set of SCCA transformations. We illustrate our framework using Arterial Spin Labelling data to investigate multivariate similarities between the effects of two antipsychotic drugs on cerebral blood flow.

  10. Neuroimaging findings in the at-risk mental state: a review of recent literature.

    Science.gov (United States)

    Wood, Stephen J; Reniers, Renate L E P; Heinze, Kareen

    2013-01-01

    The at-risk mental state (ARMS) has been the subject of much interest during the past 15 years. A great deal of effort has been expended to identify neuroimaging markers that can inform our understanding of the risk state and to help predict who will transition to frank psychotic illness. Recently, there has been an explosion of neuroimaging literature from people with an ARMS, which has meant that reviews and meta-analyses lack currency. Here we review papers published in the past 2 years, and contrast their findings with previous reports. While it is clear that people in the ARMS do show brain alterations when compared with healthy control subjects, there is an overall lack of consistency as to which of these alterations predict the development of psychosis. This problem arises because of variations in methodology (in patient recruitment, region of interest, method of analysis, and functional task employed), but there has also been too little effort put into replicating previous research. Nonetheless, there are areas of promise, notably that activation of the stress system and increased striatal dopamine synthesis seem to mark out patients in the ARMS most at risk for later transition. Future studies should focus on these areas, and on network-level analysis, incorporating graph theoretical approaches and intrinsic connectivity networks.

  11. Neuroimaging of the Wernicke–Korsakoff Syndrome

    Science.gov (United States)

    Sullivan, Edith V.; Pfefferbaum, Adolf

    2009-01-01

    Aim: Presented is the neuroradiological signature of acute Wernicke's encephalopathy (WE), derived from different types of magnetic resonance imaging (MRI) sequences. WE results from thiamine depletion, and its most typical antecedent is chronic alcohol dependence. Brain regions observed with in vivo MRI affected in acute WE include the mammillary bodies, periaqueductal and periventricular gray matter, collicular bodies and thalamus. These affected areas are usually edematous and are best visualized and quantified with MRI sequences that highlight such tissue. Following the acute WE phase and resolution of edema and inflammation of affected brain tissue, WE, if not adequately treated with thiamine repletion, can herald Korsakoff's syndrome (KS), with its symptomatic hallmark of global amnesia, that is, the inability to commit newly encountered (episodic) information to memory for later recall or recognition. Methods: Neuropathology of KS detectable with MRI has a different neuroradiological signature from the acute stage and can be observed as tissue shrinkage or atrophy of selective brain structures, including the mammillary bodies and thalamus and ventricular expansion, probably indicative of atrophy of surrounding gray matter nuclei. Quantification of these and additional gray matter structures known to underlie global amnesia reveal substantial bilateral volume deficits in the hippocampus, in addition to the mammillary bodies and thalamus, and modest deficits in the medial septum/diagonal band of Broca. The infratentorium is also affected, exhibiting volume deficits in cerebellar hemispheres, anterior superior vermis and pons, contributing to ataxia of gait and stance. Results: Consideration of WKS structural brain changes in the context of the neuropathology of non-WKS alcoholism revealed a graded pattern of volume deficits, from mild in non-WKS alcoholics to moderate or severe in WKS, in the mammillary bodies, hippocampus, thalamus, cerebellum and pons. The

  12. Neuroimaging of the Wernicke-Korsakoff syndrome.

    Science.gov (United States)

    Sullivan, Edith V; Pfefferbaum, Adolf

    2009-01-01

    Presented is the neuroradiological signature of acute Wernicke's encephalopathy (WE), derived from different types of magnetic resonance imaging (MRI) sequences. WE results from thiamine depletion, and its most typical antecedent is chronic alcohol dependence. Brain regions observed with in vivo MRI affected in acute WE include the mammillary bodies, periaqueductal and periventricular gray matter, collicular bodies and thalamus. These affected areas are usually edematous and are best visualized and quantified with MRI sequences that highlight such tissue. Following the acute WE phase and resolution of edema and inflammation of affected brain tissue, WE, if not adequately treated with thiamine repletion, can herald Korsakoff's syndrome (KS), with its symptomatic hallmark of global amnesia, that is, the inability to commit newly encountered (episodic) information to memory for later recall or recognition. Neuropathology of KS detectable with MRI has a different neuroradiological signature from the acute stage and can be observed as tissue shrinkage or atrophy of selective brain structures, including the mammillary bodies and thalamus and ventricular expansion, probably indicative of atrophy of surrounding gray matter nuclei. Quantification of these and additional gray matter structures known to underlie global amnesia reveal substantial bilateral volume deficits in the hippocampus, in addition to the mammillary bodies and thalamus, and modest deficits in the medial septum/diagonal band of Broca. The infratentorium is also affected, exhibiting volume deficits in cerebellar hemispheres, anterior superior vermis and pons, contributing to ataxia of gait and stance. Consideration of WKS structural brain changes in the context of the neuropathology of non-WKS alcoholism revealed a graded pattern of volume deficits, from mild in non-WKS alcoholics to moderate or severe in WKS, in the mammillary bodies, hippocampus, thalamus, cerebellum and pons. The development and

  13. Tensor-based morphometry with mappings parameterized by stationary velocity fields in Alzheimer's disease neuroimaging initiative.

    Science.gov (United States)

    Bossa, Matías Nicolás; Zacur, Ernesto; Olmos, Salvador

    2009-01-01

    Tensor-based morphometry (TBM) is an analysis technique where anatomical information is characterized by means of the spatial transformations between a customized template and observed images. Therefore, accurate inter-subject non-rigid registration is an essential prerrequisite. Further statistical analysis of the spatial transformations is used to highlight some useful information, such as local statistical differences among populations. With the new advent of recent and powerful non-rigid registration algorithms based on the large deformation paradigm, TBM is being increasingly used. In this work we evaluate the statistical power of TBM using stationary velocity field diffeomorphic registration in a large population of subjects from Alzheimer's Disease Neuroimaging Initiative project. The proposed methodology provided atrophy maps with very detailed anatomical resolution and with a high significance compared with results published recently on the same data set.

  14. Modifications to the HIPAA Privacy, Security, Enforcement, and Breach Notification rules under the Health Information Technology for Economic and Clinical Health Act and the Genetic Information Nondiscrimination Act; other modifications to the HIPAA rules.

    Science.gov (United States)

    2013-01-25

    The Department of Health and Human Services (HHS or ``the Department'') is issuing this final rule to: Modify the Health Insurance Portability and Accountability Act (HIPAA) Privacy, Security, and Enforcement Rules to implement statutory amendments under the Health Information Technology for Economic and Clinical Health Act (``the HITECH Act'' or ``the Act'') to strengthen the privacy and security protection for individuals' health information; modify the rule for Breach Notification for Unsecured Protected Health Information (Breach Notification Rule) under the HITECH Act to address public comment received on the interim final rule; modify the HIPAA Privacy Rule to strengthen the privacy protections for genetic information by implementing section 105 of Title I of the Genetic Information Nondiscrimination Act of 2008 (GINA); and make certain other modifications to the HIPAA Privacy, Security, Breach Notification, and Enforcement Rules (the HIPAA Rules) to improve their workability and effectiveness and to increase flexibility for and decrease burden on the regulated entities.

  15. Genomic selection strategies in breeding programs: Strong positive interaction between application of genotypic information and intensive use of young bulls on genetic gain

    DEFF Research Database (Denmark)

    Buch, Line Hjortø; Sørensen, Morten Kargo; Berg, Peer

    2012-01-01

    We tested the following hypotheses: (i) breeding schemes with genomic selection are superior to breeding schemes without genomic selection regarding annual genetic gain of the aggregate genotype (ΔGAG), annual genetic gain of the functional traits and rate of inbreeding per generation (ΔF), (ii......) a positive interaction exists between the use of genotypic information and a short generation interval on ΔGAG and (iii) the inclusion of an indicator trait in the selection index will only result in a negligible increase in ΔGAG if genotypic information about the breeding goal trait is known. We examined......, greater contributions of the functional trait to ΔGAG and lower ΔF than the two breeding schemes without genomic selection. Thus, the use of genotypic information may lead to more sustainable breeding schemes. In addition, a short generation interval increases the effect of using genotypic information...

  16. Investigation of the Ethical Concepts that Inform the Laws Limiting Genetic Screening in Employment Decisions: Privacy, Human Dignity, Equality, Autonomy, Efficiency

    Energy Technology Data Exchange (ETDEWEB)

    Pasquerella, Lynn; Rothstein, Lawrence E.

    2003-01-16

    The broad question addressed in our research is : What is the influence of ethical concepts on legislative outcomes? The research focuses on the important ethical concerns that surround the use of genetic information in employment matters and in American state legislatures. By analyzing the contents of hearings, interviews and advocacy documents involved in the legislative process, the research seeks to answer the question: How might the dominance of a particular ethical concept informing the discussion of a bill influence the legislative outcome?

  17. 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

    Normal brain maturational and developmental processes, together with plastic reorganization of the brain in response to experiential demands, contribute to the acquisition of improved capacities for self-regulation and impulse control during adolescence. The frontal lobe is a main focus for these......Normal brain maturational and developmental processes, together with plastic reorganization of the brain in response to experiential demands, contribute to the acquisition of improved capacities for self-regulation and impulse control during adolescence. The frontal lobe is a main focus...... for these developmental and plastic processes during the transition from adolescence into adulthood. Tourette syndrome (TS), defined as the chronic presence of motor and vocal tics, has been increasingly conceptualized as a disorder of impaired self-regulatory control. This disordered control is thought to give rise...... 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...

  18. Mapping vulnerability to bipolar disorder: a systematic review and meta-analysis of neuroimaging studies

    Science.gov (United States)

    Fusar-Poli, Paolo; Howes, Oliver; Bechdolf, Andreas; Borgwardt, Stefan

    2012-01-01

    Background Although early interventions in individuals with bipolar disorder may reduce the associated personal and economic burden, the neurobiologic markers of enhanced risk are unknown. Methods Neuroimaging studies involving individuals at enhanced genetic risk for bipolar disorder (HR) were included in a systematic review. We then performed a region of interest (ROI) analysis and a whole-brain meta-analysis combined with a formal effect-sizes meta-analysis in a subset of studies. Results There were 37 studies included in our systematic review. The overall sample for the systematic review included 1258 controls and 996 HR individuals. No significant differences were detected between HR individuals and controls in the selected ROIs: striatum, amygdala, hippocampus, pituitary and frontal lobe. The HR group showed increased grey matter volume compared with patients with established bipolar disorder. The HR individuals showed increased neural response in the left superior frontal gyrus, medial frontal gyrus and left insula compared with controls, independent from the functional magnetic resonance imaging task used. There were no publication biases. Sensitivity analysis confirmed the robustness of these results. Limitations As the included studies were cross-sectional, it remains to be determined whether the observed neurofunctional and structural alterations represent risk factors that can be clinically used in preventive interventions for prodromal bipolar disorder. Conclusion Accumulating structural and functional imaging evidence supports the existence of neurobiologic trait abnormalities in individuals at genetic risk for bipolar disorder at various scales of investigation. PMID:22297067

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

    Science.gov (United States)

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

    2004-06-01

    Normal brain maturational and developmental processes, together with plastic reorganization of the brain in response to experiential demands, contribute to the acquisition of improved capacities for self-regulation and impulse control during adolescence. The frontal lobe is a main focus for these developmental and plastic processes during the transition from adolescence into adulthood. Tourette syndrome (TS), defined as the chronic presence of motor and vocal tics, has been increasingly conceptualized as a disorder of impaired self-regulatory control. This disordered control is thought to give rise 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 influencing the phenotype, illness severity, and adult outcome of tic disorders. Similar developmental processes during adolescence likely determine the phenotype and natural history of a broad range of other complex neuropsychiatric disorders of childhood onset, and they likely contribute to the acquisition of improved self-regulatory capacities that characterize normal adolescent development.

  20. Increasing Power by Sharing Information from Genetic Background and Treatment in Clustering of Gene Expression Time Series

    Directory of Open Access Journals (Sweden)

    Sura Zaki Alrashid

    2018-02-01

    Full Text Available Clustering of gene expression time series gives insight into which genes may be co-regulated, allowing us to discern the activity of pathways in a given microarray experiment. Of particular interest is how a given group of genes varies with different conditions or genetic background. This paper develops
a new clustering method that allows each cluster to be parameterised according to whether the behaviour of the genes across conditions is correlated or anti-correlated. By specifying correlation between such genes,more information is gain within the cluster about how the genes interrelate. Amyotrophic lateral sclerosis (ALS is an irreversible neurodegenerative disorder that kills the motor neurons and results in death within 2 to 3 years from the symptom onset. Speed of progression for different patients are heterogeneous with significant variability. The SOD1G93A transgenic mice from different backgrounds (129Sv and C57 showed consistent phenotypic differences for disease progression. A hierarchy of Gaussian isused processes to model condition-specific and gene-specific temporal co-variances. This study demonstrated about finding some significant gene expression profiles and clusters of associated or co-regulated gene expressions together from four groups of data (SOD1G93A and Ntg from 129Sv and C57 backgrounds. Our study shows the effectiveness of sharing information between replicates and different model conditions when modelling gene expression time series. Further gene enrichment score analysis and ontology pathway analysis of some specified clusters for a particular group may lead toward identifying features underlying the differential speed of disease progression.

  1. Neuroimaging: do we really need new contrast agents for MRI?

    International Nuclear Information System (INIS)

    Roberts, T.P.L.; Chuang, N.; Roberts, H.C.

    2000-01-01

    The use of exogenous contrast media in magnetic resonance imaging of the brain has brought dramatic improvement in the sensitivity of detection and delineation of pathological structures, such as primary and metastatic brain tumors, inflammation and ischemia. Disruption of the blood brain barrier leads to accumulation of the intravenously injected contrast material in the extravascular space, leading to signal enhancement. Magnetic resonance angiography benefits from T 1 -shortening effects of contrast agent, improving small vessel depiction and providing vascular visualization even in situations of slow flow. High speed dynamic MRI after bolus injection of contrast media allows tracer kinetic modeling of cerebral perfusion. Progressive enhancement over serial post-contrast imaging allows modeling of vascular permeability and thus quantitative estimation of the severity of blood brain barrier disruption. With such an array of capabilities and ever improving technical abilities, it seems that the role of contrast agents in MR neuroimaging is established and the development of new agents may be superfluous. However, new agents are being developed with prolonged intravascular residence times, and with in-vivo binding of ever-increasing specificity. Intravascular, or blood pool, agents are likely to benefit magnetic resonance angiography of the carotid and cerebral vessels; future agents may allow the visualization of therapeutic drug delivery, the monitoring of, for example, gene expression, and the imaging evaluation of treatment efficacy. So while there is a substantial body of work that can be performed with currently available contrast agents, especially in conjunction with optimized image acquisition strategies, post processing, and mathematical analysis, there are still unrealized opportunities for novel contrast agent introduction, particularly those exploiting biological specificity. This article reviews the current use of contrast media in magnetic resonance

  2. Makeup of the genetic correlation between milk production traits using genome-wide single nucleotide polymorphism information

    NARCIS (Netherlands)

    Binsbergen, van R.; Veerkamp, R.F.; Calus, M.P.L.

    2012-01-01

    The correlated responses between traits may differ depending on the makeup of genetic covariances, and may differ from the predictions of polygenic covariances Therefore, the objective of the present study was to investigate the makeup of the genetic covariances between the well-studied traits: milk

  3. Frequency Constrained ShiftCP Modeling of Neuroimaging Data

    DEFF Research Database (Denmark)

    Mørup, Morten; Hansen, Lars Kai; Madsen, Kristoffer H.

    2011-01-01

    The shift invariant multi-linear model based on the CandeComp/PARAFAC (CP) model denoted ShiftCP has proven useful for the modeling of latency changes in trial based neuroimaging data[17]. In order to facilitate component interpretation we presently extend the shiftCP model such that the extracted...... components can be constrained to pertain to predefined frequency ranges such as alpha, beta and gamma activity. To infer the number of components in the model we propose to apply automatic relevance determination by imposing priors that define the range of variation of each component of the shiftCP model...

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

    DEFF Research Database (Denmark)

    Rasmussen, Peter Mondrup; Hansen, Lars Kai; Madsen, Kristoffer Hougaard

    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...... on visualization of such nonlinear kernel models. Specifically, we investigate the sensitivity map as a technique for generation of global summary maps of kernel classification methods. We illustrate the performance of the sensitivity map on functional magnetic resonance (fMRI) data based on visual stimuli. We...

  5. Functional neuroimaging in the assessment of cerebral ischaemia

    International Nuclear Information System (INIS)

    Sartor, K.; Heiland, S.

    1997-01-01

    Cerebral infarct causes over 170, 000 deaths per year in the United States. Recent developments in neuroimaging are providing an insight into focal cerebral ischaemia, including its pathophysiology and the area of brain at risk. Perfusion-weighted magnetic resonance (MR) allows evaluation of the blood supply to the ischaemic area, and diffusion-weighted MR permits assessment of tissue damage. Although both functional imaging techniques require some refinement, it is likely that they will soon become part of the normal clinical routine and allow accurate characterisation of pathology. It is expected that this may eventually lead to the development of new treatments. (orig.)

  6. Neuroimaging of Narcolepsy and Kleine-Levin Syndrome.

    Science.gov (United States)

    Hong, Seung Bong

    2017-09-01

    Narcolepsy is a chronic neurologic disorder with the abnormal regulation of the sleep-wake cycle, resulting in excessive daytime sleepiness, disturbed nocturnal sleep, and manifestations related to rapid eye movement sleep, such as cataplexy, sleep paralysis, and hypnagogic hallucination. Over the past decade, numerous neuroimaging studies have been performed to characterize the pathophysiology and various clinical features of narcolepsy. This article reviews structural and functional brain imaging findings in narcolepsy and Kleine-Levin syndrome. Based on the current state of research, brain imaging is a useful tool to investigate and understand the neuroanatomic correlates and brain abnormalities of narcolepsy and other hypersomnia. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Accelerating Neuroimage Registration through Parallel Computation of Similarity Metric.

    Directory of Open Access Journals (Sweden)

    Yun-Gang Luo

    Full Text Available Neuroimage registration is crucial for brain morphometric analysis and treatment efficacy evaluation. However, existing advanced registration algorithms such as FLIRT and ANTs are not efficient enough for clinical use. In this paper, a GPU implementation of FLIRT with the correlation ratio (CR as the similarity metric and a GPU accelerated correlation coefficient (CC calculation for the symmetric diffeomorphic registration of ANTs have been developed. The comparison with their corresponding original tools shows that our accelerated algorithms can greatly outperform the original algorithm in terms of computational efficiency. This paper demonstrates the great potential of applying these registration tools in clinical applications.

  8. Visualization of Nonlinear Classification Models in Neuroimaging - Signed Sensitivity Maps

    DEFF Research Database (Denmark)

    Rasmussen, Peter Mondrup; Schmah, Tanya; Madsen, Kristoffer Hougaard

    2012-01-01

    Classification models are becoming increasing popular tools in the analysis of neuroimaging data sets. Besides obtaining good prediction accuracy, a competing goal is to interpret how the classifier works. From a neuroscientific perspective, we are interested in the brain pattern reflecting...... the underlying neural encoding of an experiment defining multiple brain states. In this relation there is a great desire for the researcher to generate brain maps, that highlight brain locations of importance to the classifiers decisions. Based on sensitivity analysis, we develop further procedures for model...... direction the individual locations influence the classification. We illustrate the visualization procedure on a real data from a simple functional magnetic resonance imaging experiment....

  9. Identification method of gas-liquid two-phase flow regime based on image wavelet packet information entropy and genetic neural network

    International Nuclear Information System (INIS)

    Zhou Yunlong; Chen Fei; Sun Bin

    2008-01-01

    Based on the characteristic that wavelet packet transform image can be decomposed by different scales, a flow regime identification method based on image wavelet packet information entropy feature and genetic neural network was proposed. Gas-liquid two-phase flow images were captured by digital high speed video systems in horizontal pipe. The information entropy feature from transformation coefficients were extracted using image processing techniques and multi-resolution analysis. The genetic neural network was trained using those eigenvectors, which was reduced by the principal component analysis, as flow regime samples, and the flow regime intelligent identification was realized. The test result showed that image wavelet packet information entropy feature could excellently reflect the difference between seven typical flow regimes, and the genetic neural network with genetic algorithm and BP algorithm merits were with the characteristics of fast convergence for simulation and avoidance of local minimum. The recognition possibility of the network could reach up to about 100%, and a new and effective method was presented for on-line flow regime. (authors)

  10. NeuroLOG: sharing neuroimaging data using an ontology-based federated approach.

    Science.gov (United States)

    Gibaud, Bernard; Kassel, Gilles; Dojat, Michel; Batrancourt, Bénédicte; Michel, Franck; Gaignard, Alban; Montagnat, Johan

    2011-01-01

    This paper describes the design of the NeuroLOG middleware data management layer, which provides a platform to share heterogeneous and distributed neuroimaging data using a federated approach. The semantics of shared information is captured through a multi-layer application ontology and a derived Federated Schema used to align the heterogeneous database schemata from different legacy repositories. The system also provides a facility to translate the relational data into a semantic representation that can be queried using a semantic search engine thus enabling the exploitation of knowledge embedded in the ontology. This work shows the relevance of the distributed approach for neurosciences data management. Although more complex than a centralized approach, it is also more realistic when considering the federation of large data sets, and open strong perspectives to implement multi-centric neurosciences studies.

  11. Epistemics for Learning Disabilities: Contributions from Magnetoencephalography, a Functional Neuroimaging Tool

    Directory of Open Access Journals (Sweden)

    VÍCTOR SANTIUSTE-BERMEJO

    2008-01-01

    Full Text Available The syndrome known as Learning Disabilities (LD was described by S. Kirk in 1963. From that point on, institutions from the US, Canada and Spain have engaged in refining the concept and classification of LDs. The Complutense University in Spain, has proposed a descriptive and all-embracing definition, and has studied the different manifestations of LD, pursuing the description of biological markers and neurological features of LD’s main expressions: dyslexia, dyscalculia, dysorthographia, Attention Deficit and Hyperactivity Disorder –ADHD, and so forth. Findings in LD using functional neuroimaging techniques, namely Magnetoencephalography (MEG, are described. MEG is a non-invasive technique, which records magnetic fields naturally generated by the brain and their spatial distribution. It allows simultaneous functional and structural information. MEG is therefore used in the study of primary and superior cognitive functions, in surveillance of patterns of normal cognitive function and those specific to the different LD clinical manifestations.

  12. A Neuroimaging Web Services Interface as a Cyber Physical System for Medical Imaging and Data Management in Brain Research: Design Study.

    Science.gov (United States)

    Lizarraga, Gabriel; Li, Chunfei; Cabrerizo, Mercedes; Barker, Warren; Loewenstein, David A; Duara, Ranjan; Adjouadi, Malek

    2018-04-26

    leading researchers in the field of Alzheimer’s Disease and epilepsy have used the interface to access and process the data and visualize the results. Tabulated results with unique visualization mechanisms help guide more informed diagnosis and expert rating, providing a truly unique multimodal imaging platform that combines magnetic resonance imaging, positron emission tomography, diffusion tensor imaging, and resting state functional magnetic resonance imaging. A quality control component was reinforced through expert visual rating involving at least 2 experts. To our knowledge, there is no validated Web-based system offering all the services that Neuroimaging Web Services Interface offers. The intent of Neuroimaging Web Services Interface is to create a tool for clinicians and researchers with keen interest on multimodal neuroimaging. More importantly, Neuroimaging Web Services Interface significantly augments the Alzheimer’s Disease Neuroimaging Initiative data, especially since our data contain a large cohort of Hispanic normal controls and Alzheimer’s Disease patients. The obtained results could be scrutinized visually or through the tabulated forms, informing researchers on subtle changes that characterize the different stages of the disease. ©Gabriel Lizarraga, Chunfei Li, Mercedes Cabrerizo, Warren Barker, David A Loewenstein, Ranjan Duara, Malek Adjouadi. Originally published in JMIR Medical Informatics (http://medinform.jmir.org), 26.04.2018.

  13. MindSeer: a portable and extensible tool for visualization of structural and functional neuroimaging data

    Directory of Open Access Journals (Sweden)

    Brinkley James F

    2007-10-01

    Full Text Available Abstract Background Three-dimensional (3-D visualization of multimodality neuroimaging data provides a powerful technique for viewing the relationship between structure and function. A number of applications are available that include some aspect of 3-D visualization, including both free and commercial products. These applications range from highly specific programs for a single modality, to general purpose toolkits that include many image processing functions in addition to visualization. However, few if any of these combine both stand-alone and remote multi-modality visualization in an open source, portable and extensible tool that is easy to install and use, yet can be included as a component of a larger information system. Results We have developed a new open source multimodality 3-D visualization application, called MindSeer, that has these features: integrated and interactive 3-D volume and surface visualization, Java and Java3D for true cross-platform portability, one-click installation and startup, integrated data management to help organize large studies, extensibility through plugins, transparent remote visualization, and the ability to be integrated into larger information management systems. We describe the design and implementation of the system, as well as several case studies that demonstrate its utility. These case studies are available as tutorials or demos on the associated website: http://sig.biostr.washington.edu/projects/MindSeer. Conclusion MindSeer provides a powerful visualization tool for multimodality neuroimaging data. Its architecture and unique features also allow it to be extended into other visualization domains within biomedicine.

  14. Neuroimaging biomarkers of preterm brain injury: toward developing the preterm connectome

    Energy Technology Data Exchange (ETDEWEB)

    Panigrahy, Ashok [Children' s Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); Children' s Hospital of Pittsburgh of UPMC, Department of Pediatric Radiology, Pittsburgh, PA (United States); Wisnowski, Jessica L. [Children' s Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); University of Southern California, Brain and Creativity Institute, Los Angeles, CA (United States); Furtado, Andre [Children' s Hospital of Pittsburgh of UPMC, Department of Pediatric Radiology, Pittsburgh, PA (United States); Lepore, Natasha [Children' s Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); Paquette, Lisa [Children' s Hospital Los Angeles, Center for Fetal and Neonatal Medicine, Los Angeles, CA (United States); Bluml, Stefan [Children' s Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States); University of Southern California, Department of Biomedical Engineering, Los Angeles, CA (United States)

    2012-01-15

    For typically developing infants, the last trimester of fetal development extending into the first post-natal months is a period of rapid brain development. Infants who are born premature face significant risk of brain injury (e.g., intraventricular or germinal matrix hemorrhage and periventricular leukomalacia) from complications in the perinatal period and also potential long-term neurodevelopmental disabilities because these early injuries can interrupt normal brain maturation. Neuroimaging has played an important role in the diagnosis and management of the preterm infant. Both cranial US and conventional MRI techniques are useful in diagnostic and prognostic evaluation of preterm brain development and injury. Cranial US is highly sensitive for intraventricular hemorrhage (IVH) and provides prognostic information regarding cerebral palsy. Data are limited regarding the utility of MRI as a routine screening instrument for brain injury for all preterm infants. However, MRI might provide diagnostic or prognostic information regarding PVL and other types of preterm brain injury in the setting of specific clinical indications and risk factors. Further development of advanced MR techniques like volumetric MR imaging, diffusion tensor imaging, metabolic imaging (MR spectroscopy) and functional connectivity are necessary to provide additional insight into the molecular, cellular and systems processes that underlie brain development and outcome in the preterm infant. The adult concept of the ''connectome'' is also relevant in understanding brain networks that underlie the preterm brain. Knowledge of the preterm connectome will provide a framework for understanding preterm brain function and dysfunction, and potentially even a roadmap for brain plasticity. By combining conventional imaging techniques with more advanced techniques, neuroimaging findings will likely be used not only as diagnostic and prognostic tools, but also as biomarkers for long

  15. Neuroimaging biomarkers of preterm brain injury: toward developing the preterm connectome

    International Nuclear Information System (INIS)

    Panigrahy, Ashok; Wisnowski, Jessica L.; Furtado, Andre; Lepore, Natasha; Paquette, Lisa; Bluml, Stefan

    2012-01-01

    For typically developing infants, the last trimester of fetal development extending into the first post-natal months is a period of rapid brain development. Infants who are born premature face significant risk of brain injury (e.g., intraventricular or germinal matrix hemorrhage and periventricular leukomalacia) from complications in the perinatal period and also potential long-term neurodevelopmental disabilities because these early injuries can interrupt normal brain maturation. Neuroimaging has played an important role in the diagnosis and management of the preterm infant. Both cranial US and conventional MRI techniques are useful in diagnostic and prognostic evaluation of preterm brain development and injury. Cranial US is highly sensitive for intraventricular hemorrhage (IVH) and provides prognostic information regarding cerebral palsy. Data are limited regarding the utility of MRI as a routine screening instrument for brain injury for all preterm infants. However, MRI might provide diagnostic or prognostic information regarding PVL and other types of preterm brain injury in the setting of specific clinical indications and risk factors. Further development of advanced MR techniques like volumetric MR imaging, diffusion tensor imaging, metabolic imaging (MR spectroscopy) and functional connectivity are necessary to provide additional insight into the molecular, cellular and systems processes that underlie brain development and outcome in the preterm infant. The adult concept of the ''connectome'' is also relevant in understanding brain networks that underlie the preterm brain. Knowledge of the preterm connectome will provide a framework for understanding preterm brain function and dysfunction, and potentially even a roadmap for brain plasticity. By combining conventional imaging techniques with more advanced techniques, neuroimaging findings will likely be used not only as diagnostic and prognostic tools, but also as biomarkers for long-term neurodevelopmental

  16. Behavioural, computational, and neuroimaging studies of acquired apraxia of speech

    Directory of Open Access Journals (Sweden)

    Kirrie J Ballard

    2014-11-01

    Full Text Available A critical examination of speech motor control depends on an in-depth understanding of network connectivity associated with Brodmann areas 44 and 45 and surrounding cortices. Damage to these areas has been associated with two conditions - the speech motor programming disorder apraxia of speech (AOS and the linguistic / grammatical disorder of Broca’s aphasia. Here we focus on AOS, which is most commonly associated with damage to posterior Broca's area and adjacent cortex. We provide an overview of our own studies into the nature of AOS, including behavioral and neuroimaging methods, to explore components of the speech motor network that are associated with normal and disordered speech motor programming in AOS. Behavioral, neuroimaging, and computational modeling studies are indicating that AOS is associated with impairment in learning feedforward models and/or implementing feedback mechanisms and with the functional contribution of BA6. While functional connectivity methods are not yet routinely applied to the study of AOS, we highlight the need for focusing on the functional impact of localised lesions throughout the speech network, as well as larger scale comparative studies to distinguish the unique behavioral and neurological signature of AOS. By coupling these methods with neural network models, we have a powerful set of tools to improve our understanding of the neural mechanisms that underlie AOS, and speech production generally.

  17. Neuroimaging of nonaccidental head trauma: pitfalls and controversies

    Energy Technology Data Exchange (ETDEWEB)

    Fernando, Sujan [University of Missouri-Kansas School of Medicine, Department of Medicine, Kansas City, MO (United States); Obaldo, Ruby E. [The University of Kansas Medical Center, Department of Radiology, Kansas City, MO (United States); Walsh, Irene R. [The University of Missouri-Kansas City, Children' s Mercy Hospitals and Clinics, Department of Emergency Medicine, Kansas City, MO (United States); Lowe, Lisa H. [The University of Missouri-Kansas City, Children' s Mercy Hospitals and Clinics, Department of Radiology, Kansas City, MO (United States)

    2008-08-15

    Although certain neuroimaging appearances are highly suggestive of abuse, radiological findings are often nonspecific. The objective of this review is to discuss pitfalls, controversies, and mimics occurring in neuroimaging of nonaccidental head trauma in order to allow the reader to establish an increased level of comfort in distinguishing between nonaccidental and accidental head trauma. Specific topics discussed include risk factors, general biomechanics and imaging strategies in nonaccidental head trauma, followed by the characteristics of skull fractures, normal prominent tentorium and falx versus subdural hematoma, birth trauma versus nonaccidental head trauma, hyperacute versus acute on chronic subdural hematomas, expanded subarachnoid space versus subdural hemorrhage, controversy regarding subdural hematomas associated with benign enlarged subarachnoid spaces, controversy regarding hypoxia as a cause of subdural hematoma and/or retinal hemorrhages without trauma, controversy regarding the significance of retinal hemorrhages related to nonaccidental head trauma, controversy regarding the significance of subdural hematomas in general, and pitfalls of glutaric aciduria type 1 and hemophagocytic lymphohistiocytosis mimicking nonaccidental head trauma. (orig.)

  18. Neuroimaging in the Diagnostic Evaluation of Eye Pain.

    Science.gov (United States)

    Szatmáry, Gabriella

    2016-09-01

    Ocular or eye pain is a frequent complaint encountered not only by eye care providers but neurologists. Isolated eye pain is non-specific and non-localizing; therefore, it poses significant differential diagnostic problems. A wide range of neurologic and ophthalmic disorders may cause pain in, around, or behind the eye. These include ocular and orbital diseases and primary and secondary headaches. In patients presenting with an isolated and chronic eye pain, neuroimaging is usually normal. However, at the beginning of a disease process or in low-grade disease, the eye may appear "quiet," misleading a provider lacking familiarity with underlying disorders and high index of clinical suspicion. Delayed diagnosis of some neuro-ophthalmic causes of eye pain could result in significant neurologic and ophthalmic morbidity, conceivably even mortality. This article reviews some recent advances in imaging of the eye, the orbit, and the brain, as well as research in which neuroimaging has advanced the discovery of the underlying pathophysiology and the complex differential diagnosis of eye pain.

  19. DFBIdb: a software package for neuroimaging data management.

    Science.gov (United States)

    Adamson, Christopher L; Wood, Amanda G

    2010-12-01

    We present DFBIdb: a suite of tools for efficient management of neuroimaging project data. Specifically, DFBIdb was designed to allow users to quickly perform routine management tasks of sorting, archiving, exploring, exporting and organising raw data. DFBIdb was implemented as a collection of Python scripts that maintain a project-based, centralised database that is based on the XCEDE 2 data model. Project data is imported from a filesystem hierarchy of raw files, which is an often-used convention of imaging devices, using a single script that catalogues meta-data into a modified XCEDE 2 data model. During the import process data are reversibly anonymised, archived and compressed. The import script was designed to support multiple file formats and features an extensible framework that can be adapted to novel file formats. An ACL-based security model, with accompanying graphical management tools, was implemented to provide a straightforward method to restrict access to raw and meta-data. Graphical user interfaces are provided for data exploration. DFBIdb includes facilities to export, convert and organise customisable subsets of project data according to user-specified criteria. The command-line interface was implemented to allow users to incorporate database commands into more complex scripts that may be utilised to automate data management tasks. By using DFBIdb, neuroimaging laboratories will be able to perform routine data management tasks in an efficient manner.

  20. [Neuropsychology of Tourette's disorder: cognition, neuroimaging and creativity].

    Science.gov (United States)

    Espert, R; Gadea, M; Alino, M; Oltra-Cucarella, J

    2017-02-24

    Tourette's disorder is the result of fronto-striatal brain dysfunction affecting people of all ages, with a debut in early childhood and continuing into adolescence and adulthood. This article reviews the main cognitive, functional neuroimaging and creativity-related studies in a disorder characterized by an excess of dopamine in the brain. Given the special cerebral configuration of these patients, neuropsychological alterations, especially in executive functions, should be expected. However, the findings are inconclusive and are conditioned by factors such as comorbidity with attention deficit hyperactivity disorder and obsessive-compulsive disorder, age or methodological variables. On the other hand, the neuroimaging studies carried out over the last decade have been able to explain the clinical symptoms of Tourette's disorder patients, with special relevance for the supplementary motor area and the anterior cingulate gyrus. Finally, although there is no linear relationship between excess of dopamine and creativity, the scientific literature emphasizes an association between Tourette's disorder and musical creativity, which could be translated into intervention programs based on music.

  1. Self-development: integrating cognitive, socioemotional, and neuroimaging perspectives.

    Science.gov (United States)

    Pfeifer, Jennifer H; Peake, Shannon J

    2012-01-01

    This review integrates cognitive, socioemotional, and neuroimaging perspectives on self-development. Neural correlates of key processes implicated in personal and social identity are reported from studies of children, adolescents, and adults, including autobiographical memory, direct and reflected self-appraisals, and social exclusion. While cortical midline structures of medial prefrontal cortex and medial posterior parietal cortex are consistently identified in neuroimaging studies considering personal identity from a primarily cognitive perspective ("who am I?"), additional regions are implicated by studies considering personal and social identity from a more socioemotional perspective ("what do others think about me, where do I fit in?"), especially in child or adolescent samples. The involvement of these additional regions (including tempo-parietal junction and posterior superior temporal sulcus, temporal poles, anterior insula, ventral striatum, anterior cingulate cortex, middle cingulate cortex, and ventrolateral prefrontal cortex) suggests mentalizing, emotion, and emotion regulation are central to self-development. In addition, these regions appear to function atypically during personal and social identity tasks in autism and depression, exhibiting a broad pattern of hypoactivation and hyperactivation, respectively. Copyright © 2011 Elsevier Ltd. All rights reserved.

  2. Cholinergic modulation of cognition: Insights from human pharmacological functional neuroimaging

    Science.gov (United States)

    Bentley, Paul; Driver, Jon; Dolan, Raymond J.

    2011-01-01

    Evidence from lesion and cortical-slice studies implicate the neocortical cholinergic system in the modulation of sensory, attentional and memory processing. In this review we consider findings from sixty-three healthy human cholinergic functional neuroimaging studies that probe interactions of cholinergic drugs with brain activation profiles, and relate these to contemporary neurobiological models. Consistent patterns that emerge are: (1) the direction of cholinergic modulation of sensory cortex activations depends upon top-down influences; (2) cholinergic hyperstimulation reduces top-down selective modulation of sensory cortices; (3) cholinergic hyperstimulation interacts with task-specific frontoparietal activations according to one of several patterns, including: suppression of parietal-mediated reorienting; decreasing ‘effort’-associated activations in prefrontal regions; and deactivation of a ‘resting-state network’ in medial cortex, with reciprocal recruitment of dorsolateral frontoparietal regions during performance-challenging conditions; (4) encoding-related activations in both neocortical and hippocampal regions are disrupted by cholinergic blockade, or enhanced with cholinergic stimulation, while the opposite profile is observed during retrieval; (5) many examples exist of an ‘inverted-U shaped’ pattern of cholinergic influences by which the direction of functional neural activation (and performance) depends upon both task (e.g. relative difficulty) and subject (e.g. age) factors. Overall, human cholinergic functional neuroimaging studies both corroborate and extend physiological accounts of cholinergic function arising from other experimental contexts, while providing mechanistic insights into cholinergic-acting drugs and their potential clinical applications. PMID:21708219

  3. Investigating the pathogenesis of posttraumatic stress disorder with neuroimaging.

    Science.gov (United States)

    Pitman, R K; Shin, L M; Rauch, S L

    2001-01-01

    Rapidly evolving brain neuroimaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) are proving fruitful in exploring the pathogenesis and pathophysiology of posttraumatic stress disorder (PTSD). Structural abnormalities in PTSD found with MRI include nonspecific white matter lesions and decreased hippocampal volume. These abnormalities may reflect pretrauma vulnerability to develop PTSD, or they may be a consequence of traumatic exposure, PTSD, and/or PTSD sequelae. Functional neuroimaging symptom provocation and cognitive activation paradigms using PET measurement of regional cerebral blood flow have revealed greater activation of the amygdala and anterior paralimbic structures (which are known to be involved in processing negative emotions such as fear), greater deactivation of Broca's region (motor speech) and other nonlimbic cortical regions, and failure of activation of the cingulate cortex (which possibly plays an inhibitory role) in response to trauma-related stimuli in individuals with PTSD. Functional MRI research has shown the amygdala to be hyperresponsive to fear-related stimuli in this disorder. Research with PET suggests that cortical, notably hippocampal, metabolism is suppressed to a greater extent by pharmacologic stimulation of the noradrenergic system in persons with PTSD. The growth of knowledge concerning the anatomical and neurochemical basis of this important mental disorder will hopefully eventually lead to rational psychological and pharmacologic treatments.

  4. Neuroimaging of nonaccidental head trauma: pitfalls and controversies

    International Nuclear Information System (INIS)

    Fernando, Sujan; Obaldo, Ruby E.; Walsh, Irene R.; Lowe, Lisa H.

    2008-01-01

    Although certain neuroimaging appearances are highly suggestive of abuse, radiological findings are often nonspecific. The objective of this review is to discuss pitfalls, controversies, and mimics occurring in neuroimaging of nonaccidental head trauma in order to allow the reader to establish an increased level of comfort in distinguishing between nonaccidental and accidental head trauma. Specific topics discussed include risk factors, general biomechanics and imaging strategies in nonaccidental head trauma, followed by the characteristics of skull fractures, normal prominent tentorium and falx versus subdural hematoma, birth trauma versus nonaccidental head trauma, hyperacute versus acute on chronic subdural hematomas, expanded subarachnoid space versus subdural hemorrhage, controversy regarding subdural hematomas associated with benign enlarged subarachnoid spaces, controversy regarding hypoxia as a cause of subdural hematoma and/or retinal hemorrhages without trauma, controversy regarding the significance of retinal hemorrhages related to nonaccidental head trauma, controversy regarding the significance of subdural hematomas in general, and pitfalls of glutaric aciduria type 1 and hemophagocytic lymphohistiocytosis mimicking nonaccidental head trauma. (orig.)

  5. Neuroimaging of amblyopia and binocular vision: a review.

    Science.gov (United States)

    Joly, Olivier; Frankó, Edit

    2014-01-01

    Amblyopia is a cerebral visual impairment considered to derive from abnormal visual experience (e.g., strabismus, anisometropia). Amblyopia, first considered as a monocular disorder, is now often seen as a primarily binocular disorder resulting in more and more studies examining the binocular deficits in the patients. The neural mechanisms of amblyopia are not completely understood even though they have been investigated with electrophysiological recordings in animal models and more recently with neuroimaging techniques in humans. In this review, we summarize the current knowledge about the brain regions that underlie the visual deficits associated with amblyopia with a focus on binocular vision using functional magnetic resonance imaging. The first studies focused on abnormal responses in the primary and secondary visual areas whereas recent evidence shows that there are also deficits at higher levels of the visual pathways within the parieto-occipital and temporal cortices. These higher level areas are part of the cortical network involved in 3D vision from binocular cues. Therefore, reduced responses in these areas could be related to the impaired binocular vision in amblyopic patients. Promising new binocular treatments might at least partially correct the activation in these areas. Future neuroimaging experiments could help to characterize the brain response changes associated with these treatments and help devise them.

  6. Neuroimaging of amblyopia and binocular vision: a review

    Directory of Open Access Journals (Sweden)

    Olivier eJoly

    2014-08-01

    Full Text Available Amblyopia is a cerebral visual impairment considered to derive from abnormal visual experience (e.g., strabismus, anisometropia. Amblyopia, first considered as a monocular disorder, is now often seen as a primarily binocular disorder resulting in more and more studies examining the binocular deficits in the patients. The neural mechanisms of amblyopia are not completely understood even though they have been investigated with electrophysiological recordings in animal models and more recently with neuroimaging techniques in humans. In this review, we summarise the current knowledge about the brain regions that underlie the visual deficits associated with amblyopia with a focus on binocular vision using functional magnetic resonance imaging (fMRI. The first studies focused on abnormal responses in the primary and secondary visual areas whereas recent evidence show that there are also deficits at higher levels of the visual pathways within the parieto-occipital and temporal cortices. These higher level areas are part of the cortical network involved in 3D vision from binocular cues. Therefore, reduced responses in these areas could be related to the impaired binocular vision in amblyopic patients. Promising new binocular treatments might at least partially correct the activation in these areas. Future neuroimaging experiments could help to characterise the brain response changes associated with these treatments and help devise them.

  7. Improving capacity of stock assessment for sea turtles: using ocean circulation modeling to inform genetic mixed stock analysis

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Genetic approaches have been useful for assigning stock ID to sea turtles caught as bycatch in fisheries, or determining stock composition at foraging grounds. In...

  8. Investigating genetic and environmental contributions to adolescent externalizing behavior in a collectivistic culture: a multi-informant twin study.

    Science.gov (United States)

    Chen, J; Yu, J; Zhang, J; Li, X; McGue, M

    2015-07-01

    Little is known about the etiology of adolescents' externalizing behavior (Ext) in collectivistic cultures. We aimed to fill this gap by investigating the genetic and environmental influences on Ext in Chinese adolescents. The etiological heterogeneity of aggression (AGG) and rule breaking (RB) was also examined. The study sample included 908 pairs of same-sex twins aged from 10 to 18 years (mean = 13.53 years, s.d. = 2.26). Adolescents' Ext were assessed with the Achenbach System of Empirically Based Assessment including Child Behavior Checklist, Teacher Report Form, and Youth Self-Report. Univariate genetic analyses showed that genetic influences on all measures were moderate ranging from 34% to 50%, non-shared environmental effects ranged from 23% to 52%, and shared environmental effects were significant in parent- and teacher-reported measures ranging from 29% to 43%. Bivariate genetic analyses indicated that AGG and RB shared large genetic influences (r g = 0.64-0.79) but moderate non-shared environmental factors (r e = 0.34-0.52). Chinese adolescents' Ext was moderately influenced by genetic factors. AGG and RB had moderate independent genetic and non-shared environmental influences, and thus constitute etiologically distinct dimensions within Ext in Chinese adolescents. The heritability of AGG, in particular, was smaller in Chinese adolescents than suggested by previous data obtained on Western peers. This study suggests that the collectivistic cultural values and Confucianism philosophy may attenuate genetic potential in Ext, especially AGG.

  9. Protecting genetic privacy.

    Science.gov (United States)

    Roche, P A; Annas, G J

    2001-05-01

    This article outlines the arguments for and against new rules to protect genetic privacy. We explain why genetic information is different to other sensitive medical information, why researchers and biotechnology companies have opposed new rules to protect genetic privacy (and favour anti-discrimination laws instead), and discuss what can be done to protect privacy in relation to genetic-sequence information and to DNA samples themselves.

  10. Functional-structural reorganisation of the neuronal network for auditory perception in subjects with unilateral hearing loss: Review of neuroimaging studies.

    Science.gov (United States)

    Heggdal, Peder O Laugen; Brännström, Jonas; Aarstad, Hans Jørgen; Vassbotn, Flemming S; Specht, Karsten

    2016-02-01

    This paper aims to provide a review of studies using neuroimaging to measure functional-structural reorganisation of the neuronal network for auditory perception after unilateral hearing loss. A literature search was performed in PubMed. Search criterions were peer reviewed original research papers in English completed by the 11th of March 2015. Twelve studies were found to use neuroimaging in subjects with unilateral hearing loss. An additional five papers not identified by the literature search were provided by a reviewer. Thus, a total of 17 studies were included in the review. Four different neuroimaging methods were used in these studies: Functional magnetic resonance imaging (fMRI) (n = 11), diffusion tensor imaging (DTI) (n = 4), T1/T2 volumetric images (n = 2), magnetic resonance spectroscopy (MRS) (n = 1). One study utilized two imaging methods (fMRI and T1 volumetric images). Neuroimaging techniques could provide valuable information regarding the effects of unilateral hearing loss on both auditory and non-auditory performance. fMRI-studies showing a bilateral BOLD-response in patients with unilateral hearing loss have not yet been followed by DTI studies confirming their microstructural correlates. In addition, the review shows that an auditory modality-specific deficit could affect multi-modal brain regions and their connections. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

    Science.gov (United States)

    Karimzadeh, Parvaneh; Jafari, Narjes; Nejad Biglari, Habibeh; Jabbeh Dari, Sayena; Ahmad Abadi, Farzad; Alaee, Mohammad-Reza; Nemati, Hamid; Saket, Sasan; Tonekaboni, Seyed Hasan; Taghdiri, Mohammad-Mahdi; Ghofrani, Mohammad

    2014-01-01

    GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A, B, and AB in reference to Wagnester Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% had seizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders. Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%). According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.

  12. Model sparsity and brain pattern interpretation of classification models in neuroimaging

    DEFF Research Database (Denmark)

    Rasmussen, Peter Mondrup; Madsen, Kristoffer Hougaard; Churchill, Nathan W

    2012-01-01

    Interest is increasing in applying discriminative multivariate analysis techniques to the analysis of functional neuroimaging data. Model interpretation is of great importance in the neuroimaging context, and is conventionally based on a ‘brain map’ derived from the classification model. In this ...

  13. Predictive modelling using neuroimaging data in the presence of confounds.

    Science.gov (United States)

    Rao, Anil; Monteiro, Joao M; Mourao-Miranda, Janaina

    2017-04-15

    When training predictive models from neuroimaging data, we typically have available non-imaging variables such as age and gender that affect the imaging data but which we may be uninterested in from a clinical perspective. Such variables are commonly referred to as 'confounds'. In this work, we firstly give a working definition for confound in the context of training predictive models from samples of neuroimaging data. We define a confound as a variable which affects the imaging data and has an association with the target variable in the sample that differs from that in the population-of-interest, i.e., the population over which we intend to apply the estimated predictive model. The focus of this paper is the scenario in which the confound and target variable are independent in the population-of-interest, but the training sample is biased due to a sample association between the target and confound. We then discuss standard approaches for dealing with confounds in predictive modelling such as image adjustment and including the confound as a predictor, before deriving and motivating an Instance Weighting scheme that attempts to account for confounds by focusing model training so that it is optimal for the population-of-interest. We evaluate the standard approaches and Instance Weighting in two regression problems with neuroimaging data in which we train models in the presence of confounding, and predict samples that are representative of the population-of-interest. For comparison, these models are also evaluated when there is no confounding present. In the first experiment we predict the MMSE score using structural MRI from the ADNI database with gender as the confound, while in the second we predict age using structural MRI from the IXI database with acquisition site as the confound. Considered over both datasets we find that none of the methods for dealing with confounding gives more accurate predictions than a baseline model which ignores confounding, although

  14. Prefrontal control and Internet addiction: A theoretical model and review of neuropsychological and neuroimaging findings

    Directory of Open Access Journals (Sweden)

    Matthias eBrand

    2014-05-01

    Full Text Available Most people use the Internet as a functional tool to perform their personal goals in everyday-life such as making airline or hotel reservations. However, some individuals suffer from a loss of control over their Internet use resulting in personal distress, symptoms of psychological dependence, and diverse negative consequences. This phenomenon is often referred to as Internet addiction. Only Internet Gaming Disorder has been included in the appendix of the DSM-5, but it has already been argued that Internet addiction could also comprise problematic use of other applications with cybersex, online relations, shopping, and information search being Internet facets at risk for developing an addictive behavior. Neuropsychological investigations have pointed out that certain prefrontal functions in particular executive control functions are related to symptoms of Internet addiction, which is in line with recent theoretical models on the development and maintenance of the addictive use of the Internet. Control processes are particularly reduced when individuals with Internet addiction are confronted with Internet-related cues representing their first choice use. For example, processing