Download or read book Tay Sachs Disease written by and published by Elsevier. This book was released on 2001-10-10 with total page 363 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.
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.
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.
Download or read book The Troubled Dream of Genetic Medicine written by Keith Wailoo and published by JHU Press. This book was released on 2006-05-29 with total page 260 pages. Available in PDF, EPUB and Kindle. Book excerpt: Winner of the History of Science category of the Professional and Scholarly Publishing Awards given by the Association of American Publishers Why do racial and ethnic controversies become attached, as they often do, to discussions of modern genetics? How do theories about genetic difference become entangled with political debates about cultural and group differences in America? Such issues are a conspicuous part of the histories of three hereditary diseases: Tay-Sachs, commonly identified with Jewish Americans; cystic fibrosis, often labeled a "Caucasian" disease; and sickle cell disease, widely associated with African Americans. In this captivating account, historians Keith Wailoo and Stephen Pemberton reveal how these diseases—fraught with ethnic and racial meanings for many Americans—became objects of biological fascination and crucibles of social debate. Peering behind the headlines of breakthrough treatments and coming cures, they tell a complex story: about different kinds of suffering and faith, about unequal access to the promises and perils of modern medicine, and about how Americans consume innovation and how they come to believe in, or resist, the notion of imminent medical breakthroughs. With Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors provide a glimpse into a diverse America where racial ideologies, cultural politics, and conflicting beliefs about the power of genetics shape disparate health care expectations and experiences.
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.
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.
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.
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.
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.
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.
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
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.
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.
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.
Download or read book Cerebral Sphingolipidoses written by Stanley M. Aronson and published by . This book was released on 1962 with total page 484 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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"--
Download or read book Save My Kid written by Amanda M. Gengler and published by NYU Press. This book was released on 2020-01-21 with total page 255 pages. Available in PDF, EPUB and Kindle. Book excerpt: A frank analysis of the medical and emotional inequalities that pervade the healthcare process for critically ill children Families who have a child with a life-threatening illness face a daunting road ahead of them, one that not only upends their everyday lives, but also strikes at the very heart of parenthood. In “Save My Kid,” Amanda M. Gengler traces the emotional difficulties these families navigate as they confront a fundamentally unequal healthcare system in the United States. Gengler reveals the unrecognized, everyday inequalities tangled up in the process of seeking medical care, showing how different families manage their children’s critical illnesses. She also uncovers the role that emotional goals—deeply rooted in the culture of illness and medicine—play in medical decision-making, healthcare interactions, and the end of children’s lives. A deeply compassionate read, “Save My Kid” is an inside look at inequality in healthcare among those with the most at stake.
