The Man Behind The Syndrome
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The Man Behind The Syndrome
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Author : Greta Beighton
language : en
Publisher: Springer
Release Date : 1991-05-28
The Man Behind The Syndrome written by Greta Beighton and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 1991-05-28 with Medical categories.
The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used.
The Person Behind The Syndrome
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Author : Greta Beighton
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
The Person Behind The Syndrome written by Greta Beighton and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
A decade after the publication of The Man Behind the Syndrome, which was warmly received, particularly by medical geneticists, syndromologists and those doctors from many different dis ciplines with an interest in medical history, Peter and Greta Beighton now present the second volume of their work, promised ten years ago. The length of time which has passed since the pub lication of the first book gives an inkling of the extraordinary effort involved on the part of the authors in collecting the necessary biographical data and the portraits of their subjects. The Person Behind the Syndrome conforms exactly in structure, quality and size with the first volume, thus facilitating the use of the series. Again we find detailed presentations of a hundred people who have given their names to disorders or syndromes which are thought to have a significant genetic or chromosomal component (with a photograph or portrait, biography, com mentary on the development of nomenclature and references). The reader finds information not only on the doctor and/or scientist under discussion, but also, as in the previous volume, on the person behind the name. This is followed by brief, un illustrated biographies of about seventy, mostly younger and, in some cases, still professionally active personalities.
The Man Behind The Syndrome
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Author : Peter Beighton
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
The Man Behind The Syndrome written by Peter Beighton and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used.
The Man Behind The Syndrome Jean Martin Charcot
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Author : Karl Ekbom
language : en
Publisher:
Release Date : 1992
The Man Behind The Syndrome Jean Martin Charcot written by Karl Ekbom and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1992 with categories.
A Different Life
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Author : Quinn Bradlee
language : en
Publisher: Hachette UK
Release Date : 2010-03-02
A Different Life written by Quinn Bradlee and has been published by Hachette UK this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-03-02 with Biography & Autobiography categories.
Ten percent of the population is affected by a learning disability, but few of us understand what being learning disabled (LD) is really like. When he was fourteen, Bradlee was diagnosed with Velo-Cardio-Facial-Syndrome (VCFS), a wide-spread, little-understood disorder that is expressed through a wide range of physical ailments and learning disabilities. In this funny, moving, and often irreverent book, Bradlee tells his own inspirational story of growing up as an LD kid -- and of doing so as the child of larger-than-life, formidably accomplished parents: long-time Washington Post executive editor Ben Bradlee and bestselling author Sally Quinn. From his difficulties reading social cues, to his cringe-worthy loss of sexual innocence, Bradlee describes the challenges and joys of living "a different life" with disarming candor and humor. By the end of A Different Life he will have become, if not your best friend, one of your favorite people.
Craniofacial Microsomia And Treacher Collins Syndrome
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Author : David M. Yates
language : en
Publisher: Springer Nature
Release Date : 2022-01-03
Craniofacial Microsomia And Treacher Collins Syndrome written by David M. Yates and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-01-03 with Medical categories.
The book provides a framework for diagnosis and treatment of the complex facial deformities found in craniofacial microsomia and Treacher Collins syndrome. These conditions are difficult to treat due to their complexity and variable presentation. The deformities may be mild or severe and merely cosmetic to life-threatening in nature. These conditions often manifest as complex facial deformities that require multiple surgical interventions. Timing is critical when treating these patients and knowing and choosing the correct operation is key to successful outcomes. This work provides a comprehensive approach in treating these complex patient populations, seeking to answer the following questions: When to operate versus when to wait? If operating is required what operation should be performed? What is the best orthodontic approach to the associated dental deformities that develop with these conditions? How should sleep apnea be evaluated and treated in this population? What is the best management for feeding patients with these conditions? Written by experts in the field, Craniofacial Microsomia and Treacher Collins Syndrome: Comprehensive Treatment of Associated Facial Deformities aims to provide the reader with literature based best practices in treating these children from the NICU through childhood and into adulthood.
The Other Half Of Asperger Syndrome Autism Spectrum Disorder
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Author : Maxine Aston
language : en
Publisher: Jessica Kingsley Publishers
Release Date : 2014-02-21
The Other Half Of Asperger Syndrome Autism Spectrum Disorder written by Maxine Aston and has been published by Jessica Kingsley Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-02-21 with Family & Relationships categories.
Does your other half have Asperger Syndrome or do you suspect that he or she is on the autism spectrum? This quick and helpful relationships guide provides all the information you need for relationship success with your ASD partner. In the second edition of this best-selling book, Maxine Aston draws on over a decade of experience working with couples affected by Autism Spectrum Disorder. Updates include reference to recent research and information on same sex relationships, sensory issues and pregnancy. Full of bite-size tips and advice, the book explains Asperger Syndrome, discusses whether or not seeking an autism diagnosis will help, and offers simple strategies for coping with a range of relationship challenges including communication, social, and intimacy difficulties.
The Neurobiology Of The Gilles De La Tourette Syndrome And Chronic Tics Part A
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Author :
language : en
Publisher: Academic Press
Release Date : 2022-07-06
The Neurobiology Of The Gilles De La Tourette Syndrome And Chronic Tics Part A written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-07-06 with Science categories.
The Neurobiology of the Gilles de la Tourette Syndrome and Chronic Tics, Volume Three reviews historical background and current nosology and guidelines. In addition, it includes an overview of pathophysiology, ranging from its genetic basis and changes in neurochemistry and electrophysiology to widespread neural circuits. Specific chapters cover Tourette syndrome from phenomenology and natural history to neurobiology, Update and Recent progress in the Neurobiology of Tourette Syndrome, Current guidelines and nosology of Tourette syndrome, Neuroimaging applications in Tourette's Syndrome, Clinical and neurodevelopmental brain imaging of Tourette syndrome, Altered Structural Connectivity in Gilles de la Tourette Syndrome, and much more. The last 20?years have seen an exponential growing body of research dedicated to Gilles de la Tourette Syndrome in the understanding of the syndrome’s complex genetics and underlying neurobiology. This unprecedented surge in basic and clinical research has resulted in over 3,000 scientific publications. Examines Gilles de la Tourette Syndrome at behavioral, cognitive, clinical, electrophysiological, molecular and genetic levels Provides a comprehensive overview of the neurobiological aspects of Gilles de la Tourette Syndrome Edited and authored by top researchers and clinicians treating the Gilles de la Tourette Syndrome
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease
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Author : Roger N. Rosenberg
language : en
Publisher: Academic Press
Release Date : 2020-06-24
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease written by Roger N. Rosenberg and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-24 with Medical categories.
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics
Life Histories Of Genetic Disease
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Author : Andrew J. Hogan
language : en
Publisher: Johns Hopkins University Press+ORM
Release Date : 2016-10-30
Life Histories Of Genetic Disease written by Andrew J. Hogan and has been published by Johns Hopkins University Press+ORM this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-30 with Medical categories.
A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.