Huntington S Disease

Author: Gillian Bates
Publisher: Oxford University Press (UK)
ISBN: 0199929149
Size: 28.47 MB
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Preceded by Huntington's disease / [edited by] Gillian Bates, Peter S. Harper, Lesley Jones. 3rd ed. 2002.

Huntington S Disease

Author: Gillian Bates
Publisher: Oxford University Press, USA
ISBN: 9780198510604
Size: 46.29 MB
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It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. An international group of researchers and clinicians with specialist interests in Huntington's Disease has been commissioned to document the recent advances in our understanding of this disease. Developments in the fields of structural biology, cell biology, neurochemistry and neuropathology, with full coverage of transgenic animal models, are discussed in detail. The clinical sections cover genetic, neurological and psychiatric aspects as well as new developments in therapy.

Pathophysiology Pharmacology And Biochemistry Of Dyskinesia

Author: Jonathan Brotchie
Publisher: Academic Press
ISBN: 012381328X
Size: 39.35 MB
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Published since 1959, International Review of Neurobiology is a well-known series appealing to neuroscientists, clinicians, psychologists, physiologists, and pharmacologists. Led by an internationally renowned editorial board, this important serial publishes both eclectic volumes made up of timely reviews and thematic volumes that focus on recent progress in a specific area of neurobiology research. This volume reviews existing theories and current research surrounding the movement disorder Dyskinesia. Leading authors review state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Parkinson S Disease And Movement Disorders

Author: Joseph Jankovic
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781778817
Size: 71.42 MB
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Written by an international group of renowned experts, the Fifth Edition of this premier reference provides comprehensive, current information on the genetics, pathophysiology, diagnosis, medical and surgical treatment, and behavioral and psychologic concomitants of all common and uncommon movement disorders. Coverage includes Parkinson's disease, other neurodegenerative diseases, tremors, dystonia, Tourette's syndrome, Huntington's disease, and ataxias. This edition features extensive updates on genetics, imaging, and therapeutics of Parkinson's disease, other parkinsonian disorders, and all hyperkinetic movement disorders. A bound-in CD-ROM, Video Atlas of Movement Disorders, demonstrates the movement and posture abnormalities and other disturbances associated with Parkinson's disease and other neurologic disorders.

Community Genetics And Genetic Alliances

Author: Associate Professor of Sociology Aviad E Raz
Publisher: Routledge
ISBN: 1134005431
Size: 50.13 MB
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Carrier testing of adults provides information about the risk of passing a genetic mutation to your children, leading to reproductive (and some say, eugenic) decisions. Excessive carrier screening may have adverse effects, but it can also prevent suffering and open up new reproductive options. Raz's study focuses on the interplay of community genetics (the medical organisation of carrier screening) and genetic alliances (networks of individuals at risk), exploring how 'genetic communities' are emerging both within existing ethnic groups and around patients' organizations. While the interplay between carrier testing, reproduction and eugenics has sparked many discussions, this study provides a novel and much-needed perspective on its actual implementation and interpretation by community members. Conflating a cross-cultural spectrum of genetic communities, the benefits and perils of supporting (or restricting) carrier screening are located within broader social issues such as religion, ethnicity, multi-culturalism, abortion, stigmatization, suffering and care-giving. While carrier screening emerges as ultimately a morally justified pronatalist endeavour for the reduction of suffering, thus being different in principle from the 'old' eugenics, it can also carry unintended adverse consequences if left unattended to consumers, communities, or health professionals.

A Short History Of Medical Genetics

Author: Peter S. Harper
Publisher: Oxford University Press
ISBN: 0195187504
Size: 58.96 MB
Format: PDF
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Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Landmarks In Medical Genetics

Author: Peter S. Harper
Publisher: Oxford University Press
ISBN: 0195159306
Size: 58.71 MB
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Because advances in medical genetics over the past 50 years have been so rapid, clinicians and scientists in the field are often unfamiliar with the key research that has led to many developments which are now accepted and familiar. This collection of classic papers has been edited mainly for medical geneticists and genetics researchers who wish to learn more about how their field originated and developed. Brief, clearly written commentaries on each paper and section place the work in its current context, serve to unify the different parts of the book, and help make it both readable and authoritative.

Psychosocial Genetic Counseling

Author: Jon Weil
Publisher: Oxford University Press
ISBN: 9780199747740
Size: 60.84 MB
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Psychosocial issues are integral to all genetic counseling interactions. They include counselees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxiety and guilt, and the complex process of decision making. Drawing on direct clinical experience and the growing body of relevant literature, Psychosocial Genetic Counseling provides a comprehensive, integrated approach to understanding these issues and their applications to genetic counseling. The book combines theoretical and practical approaches, including many clinical vignettes and examples of dialogue. It is written in an engaging style that conveys the emotional immediacy of genetic counseling. The emotional and social effects of genetic disorders are discussed with reference to the individual and to couple, family, and social interactions. Counseling techniques and the agenda of the genetic counseling session are then addressed in detail. Specialized aspects of prenatal diagnosis counseling, cancer risk counseling, and genetic counseling with children and adolescents are integrated with these general principles. Nondirective counseling and the psychology of risk interpretation and decision making are discussed from theoretical and historical perspectives, leading to recommendations for their application to clinical practice. The influences of ethnocultural history, beliefs and practices, for counselee and counselor, are then discussed as they enter into all aspects of genetic counseling.

Inborn Errors Of Metabolism

Author: Brendan Lee
Publisher: Oxford University Press (UK)
ISBN: 0199797587
Size: 65.57 MB
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Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.

Emery S Elements Of Medical Genetics E Book

Author: Peter D Turnpenny
Publisher: Elsevier Health Sciences
ISBN: 0702045055
Size: 75.38 MB
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Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.