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Chapters: Tay-Sachs Disease, Niemann-Pick Disease, Type C, Sandhoff Disease, Gaucher's Disease, Niemann-pick Disease, Fabry Disease, Krabbe Disease, Schindler Disease, Gm2 Gangliosidoses, Multiple Sulfatase Deficiency, Wolman Disease, Farber Disease, Gm1 Gangliosidoses, Gangliosidosis. Source: Wikipedia. Pages: 101. Not illustrated. Free updates online. Purchase includes a free trial membership in the publisher's book club where you can select from more than a million books without charge. Excerpt: Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease, it presents a relentless deterioration of mental and physical abilities which commences at six months of age and usually results in death by the age of four. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay-Sachs Disease is rare. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. The disease is named after British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital, New York who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887. Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several population...More: http://booksllc.net/?id=56481 ... Read more

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The article is excerpted fromGale Encyclopedia of Medicine.

Consultthe second edition of this authoritative, comprehensive, in-depthmedical guide for information on more than 1,700 medical topics inlanguage accessible to adult laypersons. Presented in a singlealphabetical sequence, articles range in length from one or twoparagraphs for minor topics, to several pages or more for major topics.Disease/disorder articles typically cover definition; description;causes and symptoms; diagnosis; treatments; prevention; and more.Test/treatment articles typically cover definition; purposes;precautions; preparation; risks; normal and abnormal results; and muchmore. This second edition includes more than 200 new entries, 300updated entries, approximately 650 color images and illustrations, anda comprehensive subject index. New features include biographical andhistorical sidebars throughout the text.

Disease/disorder articles contain some or all of the following sections:

• Definitions -- brief dictionary-style definition of the disorder
• Descriptions -- overview of the disorder; who gets it and why
• Causes & symptoms -- process, substance or organism thatproduces the condition; any risk factors that increase susceptibilityto the condition; signs and symptoms of the disease
• Diagnosis -- overview of procedures and tests used todiagnose the condition; how the test is done; who should be tested andwhen; time required; cost; whether it's typically covered by insurance
• Treatments -- overview of conventional methods of care ormanagement of the condition, such as drugs, surgeries, physicaltherapy, etc.
• Alternative treatments -- overview of alternative/complementary therapies that may be used to treat the condition
• Prognosis -- probable outcome of the disease
• Preventions -- what actions can be taken to prevent the condition from occurring

Test/treatment articles contain some or all of the following sections:

• Definitions -- brief dictionary-style definition of the test/treatment
• Purposes -- why and when this test/treatment is prescribed
• Precautions -- when this test/treatment should not be prescribed
• Descriptions -- overview of the test/treatment including cost,length of time required, procedures followed, whether typically coveredby insurance
• Preparation -- pre-test treatment procedures, if any
• Aftercare -- post-test treatment procedures, if any
• Risks -- any complications/side effects commonly associated with the test/treatment
• Normal results -- for tests, describes the normal values; for treatments, describes the anticipated outcomes
• Abnormal results -- defines abnormal test values

Published/Released: December 2001

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Targeted to patients, their families and allied health students, The “Gale Encyclopedia of Neurological Disorders” provides in-depth coverage of neurological diseases and disorders, including stroke, multiple sclerosis, Parkinson disease, Tourette Syndrome, Alzheimer's disease, cerebral palsy, vertigo, amnesia and epilepsy. Related topics include communication aids, electric personal assistive mobility devices, medications for treating neurological diseases and conditions, understanding the needs of Alzheimer patient caregivers and more. This two-volume set provides an alternative to resources that either fail to explore neurological disease in any depth and or do so at a level not appropriate for students and general readers.

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This up-to-date and comprehensive set of two CD-ROM discs provides a superb collection of authoritative documents on the subject of Tay-Sachs disease. Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in tissues and nerve cells of the brain. This buildup destroys the nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, mental and physical abilities deteriorate. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.For patients, practical information is provided in clearly written patient education documents. For medical professionals, doctor reference tools and texts have detailed technical information and clinical background material. There is no other reference that is as fast, convenient, and portable - everything you need to know, from the federal sources you trust. This thoroughly researched collection presents vital information from many authoritative sources: Food and Drug Administration (FDA), Centers for Disease Control (CDC), National Institutes of Health (NIH) and the relevant institute for this disease, and others.In addition to the comprehensive disease-specific coverage, this disc set also includes our Medical Encyclopedia, a $19.95 value! The Encyclopedia presents a collection of official documents about a wide range of medical topics, diseases, illnesses, health and wellness. There is vital information from the National Institutes of Health (NIH), the Centers for Disease Control (CDC), National Cancer Institute, and more. Topics covered include: major diseases, including cancer, heart and vascular disease, stroke, blood diseases and disorders, lung diseases, and neurological disorders such as dementia and epilepsy * CDC Health Topics A to Z, Foodborne Illnesses, Infants and Children, Injuries, Occupational Health, Older Adults, Women * CDC Travelers' Health - Destinations, Vaccinations, Diseases, Mosquito, Tick, Food, Water, Clinics, Yellow Book, Children, Airplanes, Cruise Ships, Special Needs, Relief Workers * Dietary Guidelines * NIH A to Z from abnormalities to X-rays.Since navigating the Internet to find additional non-governmental medical information can be confusing, we've also provided our exclusive "Guide to Leading Medical Websites" with updated links to 67 of the best sites for medical information! Built-in weblinks let you quickly check for the latest clinical updates directly from the government and the best commercial portals, news sites, reference/textbook/non-commercial portals, and health organizations. ... Read more

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This digital document is an article from Southern Medical Journal, published by Southern Medical Association on September 1, 2001. The length of the article is 1374 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Prenatal Screening for Tay-Sachs Disease by Louisiana Obstetricians: A Survey Study.
Author: Lewis W. Hill
Publication: Southern Medical Journal (Refereed)
Date: September 1, 2001
Publisher: Southern Medical Association
Volume: 94Issue: 9Page: 910

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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.

Customer Reviews (1)

A powerful testimony to the power of prejudice even in the field of medical research.
The Troubled Dream of Genetic Medicine: Ethnicity and Innovation in Tay-Sachs, Cystic Fibrosis, and Sickle Cell Disease provides a history of diseases which have been connected with racial makeup, sparking ethnic controversies in their discussion and analysis. The authors draw links between biology and social issues, examining underlying influences on research and perspective of modern medicine and how Americans ultimately come to embrace or reject projected breakthroughs. From therapy as social justice to media headlines and changing social perspectives, THE TROUBLED DREAM OF GENETIC MEDICINE is a powerful testimony to the power of prejudice even in the field of medical research.

Diane C. Donovan
California Bookwatch ... Read more