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Strategie Detude De Genes Candidats Dans Le Syndrome Autistique
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Book Synopsis Stratégie d'étude de gènes candidats dans le syndrome autistique by : Patrick Vourc'h
Download or read book Stratégie d'étude de gènes candidats dans le syndrome autistique written by Patrick Vourc'h and published by . This book was released on 2001 with total page 34 pages. Available in PDF, EPUB and Kindle. Book excerpt: L'autisme est un trouble envahissant du développement affectant 1 enfant sur 2000. Les études de jumeaux ont montré l'importance des facteurs génétiques dans l'étiologie de l'autisme. Notre travail porte sur l'étude de quatre gènes candidats dans ce syndrome. Le gène MECP2 (Xq28) est impliqué dans le syndrome de Rett, parfois associé à l'autisme. Le gène DCX (Xq23) est muté dans la lissencéphalie liée à l'X et l'hétérotopie laminaire sous corticale. Nous n'avons pas observé de mutations dans ces gènes chez 42 garçons autistes et 17 filles autistes. Le gène UBE2H est situé en 7q32, région fortement liée a l'autisme lors d'études de criblage du génome. Il est exprimé dans le système nerveux central et code une enzyme du système ubiquitine/protéasome. Il n'apparaît pas muté chez les autistes étudiés. Le gène OMGP (17q11.2) est situé dans un intron du gène NF1 muté dans la neurofibromatose de type 1 (NF1). La prévalence de la NF1 est augmentée de 50 fois dans la population autiste. Un marqueur génétique (GXAlu) situé à 3,6 Kb du gène OMGP a été associé à l'autisme. Le locus associé pourrait être le gène OMGP. Son séquençage a mis en évidence chez certains autistes un polymorphisme G/A qui code une glycine ou un aspartate. L'allèle rare (A) est 2,2 fois plus fréquent chez les autistes que dans la population témoin. La glycoprotéine de l'oligodendrocyte et de la myéline (OMGP) apparaît être un marqueur tardif de la myélinisation. In vitro, sa surexpression entraîne une inhibition de la prolifération cellulaire indépendante de son lien glycosylphosphatidyl inositol (GPI) mais dépendante de son domaine riche en leucines (LRR). Le modèle tridimensionnel de ce domaine LRR, très conservé chez les mammifères, suggère un site d'interaction protéine-protéine. Nous proposons qu'OMGP est impliquée dans les mécanismes d'adhérence inter-cellules ou cellules-substrat nécessaires à la maturation de la myéline, qui pourrait être perturbée dans l'autisme.
Book Synopsis UTILISATION DE METHODES NON PARAMETRIQUES DANS L'ETUDE GENETIQUE DU TROUBLE AUTISTIQUE by : Anne Philippe
Download or read book UTILISATION DE METHODES NON PARAMETRIQUES DANS L'ETUDE GENETIQUE DU TROUBLE AUTISTIQUE written by Anne Philippe and published by . This book was released on 2000 with total page 173 pages. Available in PDF, EPUB and Kindle. Book excerpt: L'OBJECTIF DE CETTE THESE EST LA RECHERCHE DES GENES IMPLIQUES DANS L'ETIOLOGIE DU TROUBLE AUTISTIQUE. L'EXISTENCE DE FACTEURS GENETIQUES A ETE DEMONTREE PAR LES ETUDES DE JUMEAUX ET LES ETUDES FAMILIALES MONTRENT QUE LE RISQUE SE LIMITE ESSENTIELLEMENT A LA FRATRIE AVEC UN RISQUE RELATIF DE 20-60 PAR RAPPORT A LA POPULATION GENERALE. DU FAIT DES INCERTITUDES SUR LE MODE D'HEREDITE, NOUS AVONS EU RECOURS A DES METHODES NON PARAMETRIQUES, ET UTILISE DEUX STRATEGIES : UNE ETUDE DE GENES CANDIDATS PAR LA METHODE DE TRANSMISSION DE DESEQUILIBRE DE LIAISON ET UNE ETUDE DE LOCALISATION PAR EXPLORATION SYSTEMATIQUE DU GENOME PAR LA METHODE DES PAIRES DE GERMAINS. NOUS NE METTONS PAS EN EVIDENCE DE LIAISON OU DE DESEQUILIBRE DE LIAISON AVEC LES POLYMORPHISMES DES GENES CANDIDATS QUE NOUS AVONS TESTE, C'EST-A-DIRE DES GENES IMPLIQUES DANS LE SYSTEME OPIACE, CODANT POUR LA PROENKEPHALINE, LA PRODYNORPHINE, LA PROPROTEINE CONVERTASE SUBTILISINE/KEXINE DE TYPE 2 ; DES GENES INTERVENANT DANS LE METABOLISME MONOAMINERGIQUE, CODANT POUR LA TYROSINE HYDROXYLASE, LES MONOAMINES OXIDASES A ET B, LES RECEPTEURS DOPAMINERGIQUES D2 ET D5, LE TRANSPORTEUR DE LA SEROTONINE ET DEUX GENES INTERVENANT DANS LE DEVELOPPEMENT CEREBRAL CODANT POUR LE BDNF (BRAIN-DERIVED NEUROTROPHIC FACTOR) ET LE NCAM (NEURAL CELL ADHESION MOLECULE), SIGNIFIANT QUE CES GENES NE JOUENT VRAISEMBLABLEMENT PAS UN ROLE MAJEUR DANS L'ETIOLOGIE DU TROUBLE AUTISTIQUE DANS LES FAMILLES QUE NOUS AVONS ETUDIEES. NOUS AVONS REALISE UNE ETUDE SYSTEMATIQUE DU GENOME AVEC 264 MARQUEURS MICROSATELLITES DANS UN ECHANTILLON DE 51 FAMILLES AVEC DEUX ENFANTS ATTEINTS. L'ANALYSE DEUX-POINTS INDIQUE 12 MARQUEURS AVEC UN SEUIL DE SIGNIFICATION A 5%. L'ANALYSE MULTIPOINT AVEC LE MEME SEUIL
Book Synopsis Forbidden Relatives by : Martin Ottenheimer
Download or read book Forbidden Relatives written by Martin Ottenheimer and published by University of Illinois Press. This book was released on 1996 with total page 194 pages. Available in PDF, EPUB and Kindle. Book excerpt: CONTENIDO: Laws prohibiting the marriage of relatives -- The reasons for U.S. laws against first cousin marriage -- European laws prohibiting the marriage of relatives -- European views of cousin marriage -- The evolutionary factor -- Biogenetics and first cousin marriage -- Culture and cousin marriage.
Book Synopsis Culture and Human-Robot Interaction in Militarized Spaces by : Dr Julie Carpenter
Download or read book Culture and Human-Robot Interaction in Militarized Spaces written by Dr Julie Carpenter and published by Ashgate Publishing, Ltd.. This book was released on 2016-01-28 with total page 253 pages. Available in PDF, EPUB and Kindle. Book excerpt: Explosive Ordnance Disposal (EOD) personnel are some of the most highly trained people in the military, with a job description that spans defusing unexploded ordnance to protecting VIP’s and state dignitaries. EOD are also one of the first military groups to work with robots every day. These robots have become an increasingly important tool in EOD work, enabling people to work at safer distances in many dangerous situations. Based on exploratory research investigating interactions between EOD personnel and the robots they use, this study richly describes the nuances of these reciprocal influences, especially those related to operator emotion associated with the robots. In particular, this book examines the activities, processes and contexts that influence or constrain everyday EOD human-robot interactions, what human factors are shaping the (robotic) technology and how people and culture are being changed by using it. The findings from this research have implications for future personnel training, and the refinement of robot design considerations for many fields that rely on critical small group communication and decision-making skills.
Book Synopsis Evidence-Based Practices and Treatments for Children with Autism by : Brian Reichow
Download or read book Evidence-Based Practices and Treatments for Children with Autism written by Brian Reichow and published by Springer Science & Business Media. This book was released on 2010-11-25 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASDs) have been increasingly diagnosed in recent years and carries with it far reaching social and financial implications. With this in mind, educators, physicians, and parents are searching for the best practices and most effective treatments. But because the symptoms of ASDs span multiple domains (e.g., communication and language, social, behavioral), successfully meeting the needs of a child with autism can be quite challenging. Evidence-Based Practices and Treatments for Children with Autism offers an insightful and balanced perspective on topics ranging from the historical underpinnings of autism treatment to the use of psychopharmacology and the implementation of evidence-based practices (EBPs). An evaluation methodology is also offered to reduce the risks and inconsistencies associated with the varying definitions of key autism terminology. This commitment to clearly addressing the complex issues associated with ASDs continues throughout the volume and provides opportunities for further research. Additional issues addressed include: Behavioral excesses and deficits treatment Communication treatment Social awareness and social skills treatment Dietary, complementary, and alternative treatments Implementation of EBPs in school settings Interventions for sensory dysfunction With its holistic and accessible approach, Evidence-Based Practices and Treatments for Children with Autism is a vital resource for school psychologists and special education professionals as well as allied mental health professionals, including clinical child and developmental psychologists, psychiatrist, pediatricians, primary care and community providers.
Book Synopsis Autistic Spectrum Disorders in Children by : Vidya Bhushan Gupta
Download or read book Autistic Spectrum Disorders in Children written by Vidya Bhushan Gupta and published by CRC Press. This book was released on 2004-03-19 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: Impeccably researched and written by a nationally known team of specialists from neurodevelopmental pediatrics, psychology, epidemiology, education, occupational therapy, and speech therapy backgrounds, Autistic Spectrum Disorders in Children presents a multidisciplinary profile of autism and pervasive developmental disorders in children. Tracing the history of autism and tracking the latest research on its causation and neurological basis, this volume offers both traditional medical and complementary and alternative medicine approaches-as well as reliable methods for assessing treatment efficacy.
Download or read book Adult ADHD written by J.J. Sandra Kooij and published by Springer Science & Business Media. This book was released on 2012-12-11 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: Adult ADHD: Diagnostic Assessment and Treatment, Third Edition covers not only diagnostic assessment, but also comorbidity patterns as well as differential diagnosis of ADHD with for example bipolar disorder and borderline personality disorder. The symptom overlap and misdiagnosis of chronic fatigue syndrome in girls and women with the inattentive subtype of ADHD, ADD is explored. The chronic delayed sleep phase syndrome associated with ADHD based on disturbances in the circadian rhythm, and the possible consequences for general health (obesity, diabetes, cardiovascular diseases and cancer) are discussed. There are sections on ADHD and intelligence, criminality, sexuality, dyslexia and autism. Adult ADHD can be treated effectively but as yet the disorder is not always recognised by professionals and this book aims to help correct this. Diagnostic tools are included, such as the structured Diagnostic Interview for Adult ADHD (DIVA), and an ultra-short and somewhat longer screening tool, all based on the DSM-IV criteria for ADHD. Treatment options cover psychoeducation and motivation and individual and group coaching; long-acting stimulants and other new drugs for treating ADHD; use of melatonin to treat the delayed sleep-phase disorder. Useful information is included on the setting up and organisation of a department for adult ADHD with a multidisciplinary team. References, websites and useful international addresses have all been updated. Adult ADHD: Diagnostic Assessment and Treatment, Third Edition is intended for students, junior doctors/residents, psychologists, psychiatrists, other mental healthcare professionals and interested parties and provides a quick overview of the current state of the science and of the methods used in diagnosis and treatment. Adult ADHD: Diagnostic Assessment and Treatment, Third Edition was originally published by Pearson Assessment and Information BV, The Netherlands.
Book Synopsis Autistic Spectrum Disorders by : Sarah Worth
Download or read book Autistic Spectrum Disorders written by Sarah Worth and published by A&C Black. This book was released on 2005-01-01 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism (or Autistic Spectrum Disorder) is a condition which affects a child's ability to socialise and to develop speech and language. It is a particularly challenging SEN facing teachers today. This informative guide equips teachers with a wide variety of strategies for teaching and managing pupils who are diagnosed with Autism. Well-written and engaging, this book will prove invaluable reading for teachers everywhere. >
Book Synopsis Queer Theory in Education by : William F. Pinar
Download or read book Queer Theory in Education written by William F. Pinar and published by Routledge. This book was released on 2012-10-02 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: Theoretical studies in curriculum have begun to move into cultural studies--one vibrant and increasingly visible sector of which is queer theory. Queer Theory in Education brings together the most prominent and promising scholars in the field of education--primarily but not exclusively in curriculum--in the first volume on queer theory in education. In his perceptive introduction, the editor outlines queer theory as it is emerging in the field of education, its significance for all scholars and teachers, and its relation to queer theory in literacy theory and more generally, in the humanities.
Book Synopsis The Art of Being a Parasite by : Claude Combes
Download or read book The Art of Being a Parasite written by Claude Combes and published by University of Chicago Press. This book was released on 2020-06-05 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt: Parasites are a masterful work of evolutionary art. The tiny mite Histiostoma laboratorium, a parasite of Drosophila, launches itself, in an incredible display of evolutionary engineering, like a surface-to-air missile at a fruit fly far above its head. Gravid mussels such as Lampsilis ventricosa undulate excitedly as they release their parasitic larval offspring, conning greedy predators in search of a tasty meal into hosting the parasite. The Art of Being a Parasite is an extensive collection of these and other wonderful and weird stories that illuminate the ecology and evolution of interactions between species. Claude Combes illustrates what it means to be a parasite by considering every stage of its interactions, from invading to reproducing and leaving the host. An accessible and engaging follow-up to Combes's Parasitism, this book will be of interest to both scholars and nonspecialists in the fields of biodiversity, natural history, ecology, public health, and evolution.
Download or read book Disciplined Minds written by Jeff Schmidt and published by Rowman & Littlefield. This book was released on 2000 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book about the world of professional work, Jeff Schmidt demonstrates that the workplace is inherently political and is a battleground for the very identity of the individual, as is graduate school where professionals are trained.
Book Synopsis Reason, Illusion, and Passion by : Émilie du Châtelet
Download or read book Reason, Illusion, and Passion written by Émilie du Châtelet and published by . This book was released on 2019-09-16 with total page 58 pages. Available in PDF, EPUB and Kindle. Book excerpt: The amazing scientist, mathematician, philosopher Émilie du Châtelet (1706-49) has widely been hailed as a rare female intellectual in the Enlightenment. At the same time, her own ideas and contributions remain largely unknown and her writings are rarely read. This is unfortunate, since she has interesting contributions to and explanations of physics, metaphysics, religion, translation, the equality of the sexes, and ethics.This book is a selection of du Châtelet's philosophical writings, in new English translations: -Foreword to "Foundations of Physics"-On the Principles of Our Knowledge (From "Foundations of Physics")-On the Existence of God (From "Foundations of Physics")-On Liberty-Translator's Preface to Mandeville's "Fable of the Bees"-On the Resurrection of the Dead (from "Examinations of the Bible")-On Happiness
Book Synopsis Neurodevelopmental Disorders by : Jo Van Herwegen
Download or read book Neurodevelopmental Disorders written by Jo Van Herwegen and published by Psychology Press. This book was released on 2014-12-05 with total page 319 pages. Available in PDF, EPUB and Kindle. Book excerpt: Interest in the field of neurodevelopmental disorders has grown exponentially in recent years across a range of disciplines, including psychology, psychiatry, education and neuroscience. The research itself has become more sophisticated, using multidisciplinary methods to probe interdisciplinary questions. Neurodevelopmental Disorders: Research Challenges and Solutions provides a thorough overview of the key issues involved in researching neurodevelopmental disorders. The volume includes 14 chapters, arranged over three sections. Chapters in the first section address general research challenges for the study of neurodevelopmental disorders. The second section draws upon specific disorders (such as Williams syndrome, Autism Spectrum Disorders, Down Syndrome, Fragile X Syndrome, ADHD, and Language Disorders) to consider the syndrome-specific issues or challenges that may be crucial to advancing our understanding of aspects of cognition and behavior associated with them. The final section considers how research evidence may be translated into practice to begin making an impact upon the lives of individuals who have neurodevelopmental disorders and their families. Each chapter in the book also includes ‘practical tips’ for either conducting research with individuals who have neurodevelopmental disorders or considering wider practical issues. The book will be indispensable reading for advanced students, researchers, and practitioners in the fields of developmental psychology, developmental psychopathology, special needs education, neuropsychology, and neurodevelopmental disorders.
Book Synopsis Toward the United Front by : Communistische Internationale
Download or read book Toward the United Front written by Communistische Internationale and published by BRILL. This book was released on 2011-10-14 with total page 1323 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers, for the first time in English, the proceedings and decisions of the last congress of the Communist International held in Lenin’s lifetime. With an analytic introduction, detailed footnotes, 500 biographic notes, glossary, chronology, and index.
Download or read book Python 101 written by Michael Driscoll and published by Lulu.com. This book was released on 2014-06-03 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: Learn how to program with Python from beginning to end. This book is for beginners who want to get up to speed quickly and become intermediate programmers fast!
Book Synopsis Interprofessional Capability Framework by : HIpE
Download or read book Interprofessional Capability Framework written by HIpE and published by . This book was released on 2011 with total page 16 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Meeky Mouse written by Adam Dumphy and published by . This book was released on 2005-02-01 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains two separate chapbooks: PSYCHO Poetry" is a work of creative non-fiction: it is Galardi's take on the tragedy of poor mental health care, but at the same time, an insight into the determination some people had to have in order to survive it. "Shadows in Time" is a collection of poetry she has written over a period of 30 years. From the deeply spiritual poem "Reaching Out," ("Your embrace /would be too much to bear" ) to an angry rant of "Where to Look," ("Stories, just stories.../Look again at the people,") she takes readers through the challenges of life with unswerving spirituality, although she espouses no particular religion. "Judi Galardi's poems touch many strings of human existence and experience. Some are as archetypal as man's very presence on this earth, while others are a subtle synthesis of what man or woman represents within the social context of a reality created by others which he/she has to accept, of which, willingly or not, he/she is part. *** "Many writers fail because they lack a sense of humor. Not only something that makes a reader smile, but a sense of irony and well-calculated detachment by the writer from the created work. Judi enriches many of her poems with just the right touch of irony and humor. *** Galardi's texts are of extraordinary quality." Luis F. Gonzalez-Cruz Literary critic, poet and author
