Tay Sachs Disease

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Tay-Sachs Disease

Author :
Publisher : Elsevier
ISBN 13 : 0080490301
Total Pages : 384 pages
Book Rating : 4.0/5 (84 download)

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Book Synopsis Tay-Sachs Disease by :

Download or read book Tay-Sachs Disease written by and published by Elsevier. This book was released on 2001-10-10 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs. A test to determine whether an infant is carrying the Tay-Sachs disease was introduced in 1969. However, work continues to be done to help find a cure. Because there is no cure for this deadly disease, genetic research is essential. Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.

Testing Fate

Author : Shelley Z. Reuter
Publisher : U of Minnesota Press
ISBN 13 : 1452951896
Total Pages : 366 pages
Book Rating : 4.4/5 (529 download)

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Book Synopsis Testing Fate by : Shelley Z. Reuter

Download or read book Testing Fate written by Shelley Z. Reuter and published by U of Minnesota Press. This book was released on 2016-08-17 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: In today’s world, responsible biocitizenship has become a new way of belonging in society. Individuals are expected to make “responsible” medical choices, including the decision to be screened for genetic disease. Paradoxically, we have even come to see ourselves as having the right to be responsible vis-à-vis the proactive mitigation of genetic risk. At the same time, the concept of genetic disease has become a new and powerful way of defining the boundaries between human groups. Tay-Sachs, an autosomal recessive disorder, is a case in point—with origins in the period of Eastern European Jewish immigration to the United States and United Kingdom that spanned the late nineteenth and early twentieth centuries, it has a long and fraught history as a marker of Jewish racial difference. In Testing Fate, Shelley Z. Reuter asks: Can the biocitizen, especially one historically defined as a racialized and pathologized Other, be said to be exercising authentic, free choice in deciding whether to undertake genetic screening? Drawing on a range of historical and contemporary examples—doctors’ medical reports of Tay-Sachs since the first case was documented in 1881, the medical field’s construction of Tay-Sachs as a disease of Jewish immigrants, YouTube videos of children with Tay-Sachs that frame the disease as tragic disability avoidable through a simple genetic test, and medical malpractice suits since the test for the disease became available—Reuter shows that true agency in genetic decision-making can be exercised only from a place of cultural inclusion. Choice in this context is in fact a kind of unfreedom—a moral duty to act that is not really agency at all.

Tay-Sachs Disease

Author : Randall McPartland
Publisher : Cavendish Square Publishing, LLC
ISBN 13 : 1502609479
Total Pages : 64 pages
Book Rating : 4.5/5 (26 download)

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Book Synopsis Tay-Sachs Disease by : Randall McPartland

Download or read book Tay-Sachs Disease written by Randall McPartland and published by Cavendish Square Publishing, LLC. This book was released on 2015-12-15 with total page 64 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tay-Sachs disease destroys the nerve cells of the brain and spinal cord, and its symptoms show up in infancy. This book describes the condition and the genetic causes behind it, follows researchers on their path to scientific discovery, identifies people who have heroically cared for children with this heartbreaking disease, and tracks the latest treatments and research aimed at helping those living with it. Sidebars highlight medical breakthroughs and the people who made them.

Tay-Sachs Disease

Author : Jeri Freedman
Publisher : Infobase Publishing
ISBN 13 : 1438125720
Total Pages : 145 pages
Book Rating : 4.4/5 (381 download)

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Book Synopsis Tay-Sachs Disease by : Jeri Freedman

Download or read book Tay-Sachs Disease written by Jeri Freedman and published by Infobase Publishing. This book was released on 2009 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Describes the symptoms, diagnosis, treatment, and genetic aspects of Tay-Sachs disease.

Prenatal Diagnosis

Author : Brynn Levy
Publisher : Humana
ISBN 13 : 9781493988877
Total Pages : 0 pages
Book Rating : 4.9/5 (888 download)

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Book Synopsis Prenatal Diagnosis by : Brynn Levy

Download or read book Prenatal Diagnosis written by Brynn Levy and published by Humana. This book was released on 2018-12-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.

The A-Z Reference Book of Syndromes and Inherited Disorders

Author : P A T R I C I A GILBERT
Publisher : Springer
ISBN 13 : 1489969187
Total Pages : 389 pages
Book Rating : 4.4/5 (899 download)

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Book Synopsis The A-Z Reference Book of Syndromes and Inherited Disorders by : P A T R I C I A GILBERT

Download or read book The A-Z Reference Book of Syndromes and Inherited Disorders written by P A T R I C I A GILBERT and published by Springer. This book was released on 2013-12-17 with total page 389 pages. Available in PDF, EPUB and Kindle. Book excerpt: The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.

Vogel and Motulsky's Human Genetics

Author : Michael Speicher
Publisher : Springer Science & Business Media
ISBN 13 : 3540376542
Total Pages : 1006 pages
Book Rating : 4.5/5 (43 download)

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Book Synopsis Vogel and Motulsky's Human Genetics by : Michael Speicher

Download or read book Vogel and Motulsky's Human Genetics written by Michael Speicher and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 1006 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.

The Metabolic & Molecular Bases of Inherited Disease

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)

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Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

The Still Point of the Turning World

Author : Emily Rapp
Publisher :
ISBN 13 : 9781594205125
Total Pages : 0 pages
Book Rating : 4.2/5 (51 download)

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Book Synopsis The Still Point of the Turning World by : Emily Rapp

Download or read book The Still Point of the Turning World written by Emily Rapp and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Like all mothers, Rapp had ambitious plans for her first and only child, Ronan. He would be smart, loyal, physically fearless, and level-headed, but fun. But all of these plans changed when Ronan was diagnosed at nine months old with a rare and always-fatal degenerative disorder.

Paediatric Cardiology

Author : Robert H. Anderson
Publisher : Elsevier Health Sciences
ISBN 13 : 0702037354
Total Pages : 1344 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Paediatric Cardiology by : Robert H. Anderson

Download or read book Paediatric Cardiology written by Robert H. Anderson and published by Elsevier Health Sciences. This book was released on 2009-09-25 with total page 1344 pages. Available in PDF, EPUB and Kindle. Book excerpt: As patients live longer and need to be treated over the long term and the management of pediatric cardiology problems and congenital heart disease moves more into the mainstream, turn to Pediatric Cardiology for current clinical guidance. Trust Dr. Robert Anderson, godfather of cardiac morphology, to bring you coverage of potential cardiovascular anomalies, all potential diseases related to anomalies or developmental problems, and methods for management and treatment. New contributors from all over the world-including 70% new to this edition-present the latest challenges in the field and emphasize the adolescent and post-operative outcomes for management. Now, in full color, this leading reference offers you everything you need to treat and manage pediatric heart conditions. A comprehensive and exhaustive reference of fundamental and clinical aspects of heart disease in infancy and childhood. The contributors are well-known experts in the field and the editors are a world class group who have published extensively in the field. Emphasizes the treatment of corrected congenital heart disease for coverage of the clinical management of cardiac problems in the adolescent and young adult. Integrates development in chapters on lesions to make physiology clinically relevant for the specific cardiac lesions. Provides the latest clinical perspectives on neonate cardiac development management issues so you can offer the best long-term care. Presents the contributions of 70% new authors, from all over the world, in a consistent format to make referencing global perspectives quick and easy. Captures the nuances of the anatomical structure of lesions through full-color illustrations depicting morphologic, congenital, and surgically corrected examples for exceptional visual guidance.

Sanctuary

Author : Emily Rapp Black
Publisher : Random House
ISBN 13 : 0525510958
Total Pages : 240 pages
Book Rating : 4.5/5 (255 download)

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Book Synopsis Sanctuary by : Emily Rapp Black

Download or read book Sanctuary written by Emily Rapp Black and published by Random House. This book was released on 2021-01-19 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: “[An] often beautiful jewel of a book . . . Black’s power as a writer means she can take us with her to places that normally our minds would refuse to go.”—The New York Times Book Review (Editors’ Choice) From the New York Times bestselling author of The Still Point of the Turning World comes an incisive memoir about how she came to question and redefine the concept of resilience after the trauma of her first child’s death. “Congratulations on the resurrection of your life,” a colleague wrote to Emily Rapp Black when she announced the birth of her second child. The line made Rapp Black pause. Her first child, a boy named Ronan, had died from Tay-Sachs disease before he turned three years old, an experience she wrote about in her second book, The Still Point of the Turning World. Since that time, her life had changed utterly: She left the marriage that fractured under the terrible weight of her son’s illness, got remarried to a man who she fell in love with while her son was dying, had a flourishing career, and gave birth to a healthy baby girl. But she rejected the idea that she was leaving her old life behind—that she had, in the manner of the mythical phoenix, risen from the ashes and been reborn into a new story, when she still carried so much of her old story with her. More to the point, she wanted to carry it with her. Everyone she met told her she was resilient, strong, courageous in ways they didn’t think they could be. But what did those words mean, really? This book is an attempt to unpack the various notions of resilience that we carry as a culture. Drawing on contemporary psychology, neurology, etymology, literature, art, and self-help, Emily Rapp Black shows how we need a more complex understanding of this concept when applied to stories of loss and healing and overcoming the odds, knowing that we may be asked to rebuild and reimagine our lives at any moment, and often when we least expect it. Interwoven with lyrical, unforgettable personal vignettes from her life as a mother, wife, daughter, friend, and teacher, Rapp Black creates a stunning tapestry that is full of wisdom and insight.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Author : Sara Mole
Publisher : OUP Oxford
ISBN 13 : 019101558X
Total Pages : 480 pages
Book Rating : 4.1/5 (91 download)

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Book Synopsis The Neuronal Ceroid Lipofuscinoses (Batten Disease) by : Sara Mole

Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.

Communicating Rare Diseases and Disorders in the Digital Age

Author : Liliana Vale Costa
Publisher : Medical Information Science Reference
ISBN 13 : 9781799820901
Total Pages : 0 pages
Book Rating : 4.8/5 (29 download)

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Book Synopsis Communicating Rare Diseases and Disorders in the Digital Age by : Liliana Vale Costa

Download or read book Communicating Rare Diseases and Disorders in the Digital Age written by Liliana Vale Costa and published by Medical Information Science Reference. This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book explores the use of computer-mediated communication in rare diseases and disorders"--

Metabolic Diseases

Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

Tay-Sachs Disease

Author : Julie Walker
Publisher :
ISBN 13 : 9781435837560
Total Pages : 68 pages
Book Rating : 4.8/5 (375 download)

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Book Synopsis Tay-Sachs Disease by : Julie Walker

Download or read book Tay-Sachs Disease written by Julie Walker and published by . This book was released on 2006-07 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt: Describes the history and causes of Tay-Sachs disease, and discusses the special needs and complications that can arise.

Genes, Chromosomes, and Disease

Author : Nicholas Wright Gillham
Publisher : FT Press
ISBN 13 : 0132623242
Total Pages : 353 pages
Book Rating : 4.1/5 (326 download)

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Book Synopsis Genes, Chromosomes, and Disease by : Nicholas Wright Gillham

Download or read book Genes, Chromosomes, and Disease written by Nicholas Wright Gillham and published by FT Press. This book was released on 2011-03-15 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: This very readable overview of the rise and transformations of medical genetics and of the eugenic impulses that have been inspired by the emerging understanding of the genetic basis of many diseases and disabilities is based on a popular nonmajors course, "Social Implications of Genetics," that Gillham gave for many years at Duke University. The book is suitable for use as a text in similar overview courses about genes and social issues or genes and disease. It gives a good overview of the developments and status of this field for a wide range of biomedical researchers, physicians, and students, especially those interested in the prospects for the new, genetics-based personalized medicine.