Current Trends in Sphingolipidoses and Allied Disorders

Current Trends in Sphingolipidoses and Allied Disorders
Author: Bruno Volk
Publisher: Springer Science & Business Media
Total Pages: 603
Release: 2013-03-09
Genre: Medical
ISBN: 1468477358

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The present volume contains the scientific contributions to the Fifth International Symposium on "Current Trends in Sphingo lipidoses and Allied Disorders" under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, the Department of Pathology, Downstate Medical Center, State Uni versity of New York, Brooklyn, New York, and the National Tay-Sachs and Allied Diseases Association, Inc., New York. A review of the four previous Symposia shows the increase in scope of the scientific exploration in this rapidly expanding field. The first meeting, held in 1958, was devoted to the discussion al most entirely of Tay-Sachs disease. The majority of the work emanated from local laboratories. The participants at the present Symposium came from many other domestic and foreign research in stitutions. The scope of the papers presented at these meetings and the interest shown in the Symposium demonstrates the signifi cance attached by the scientific community to the problems of these hereditary diseases. The reasons for this are apparent, when one considers the contributions during recent years to our basic know ledge by lipid and enzyme chemistry, genetics, and neuropathology. Partly because of the hereditary nature of these diseases any new discovery in this field has general meaning and permits cautious generalization well beyond its clinical significance.

Sphingolipids, Sphingolipidoses and Allied Disorders

Sphingolipids, Sphingolipidoses and Allied Disorders
Author: Bruno Volk
Publisher: Springer Science & Business Media
Total Pages: 693
Release: 2013-04-17
Genre: Medical
ISBN: 1475765703

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This text contains the scientific contributions to the Fourth International Symposium on Sphingolipids, Sphingo lipidoses and Allied Disorders held at the Kingsbrook Jewish Medical Center on October 25-27, 1971. These meetings were conducted under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and the National Tay-Sachs and Allied Diseases Association, Inc. Four symposia, held in 1958, 1961, 1965 and 1971 were designed to gather the most relevant and innovative of the laboratory and field studies concerned with these hereditary disorders. The texts generated by these periodic meetings have mirrored the increasing absorption of the scientific community in the problems of sphingolipid metabolism. The first meeting in 1958 consisted of but twelve pre sentations, the majority emanating from local laboratories. The current sessions contain 48 scientific presentations by scientists from nine countries and demonstrate the increas ingly diversified techniques and approaches employed in the study of these diseases. Many of the authors, in exploring data on the mucopolysaccharidoses and leucodystrophies, as well as the sphingolipidoses, have given recognition to those biochemical areas held in common by these otherwise diverse disease processes. The problems of prevention and therapy of these diseases have been considered by some of the contributors. Laboratory screening procedures designed to detect carriers of the va rious lipidoses are now available and the experiences of some laboratories in this area are summarized within this volume. The prospective identification of heterozygotes may indeed become a powerful adjunct in genetic counseling.

Sphingolipids, Sphingolipidoses and Allied Disorders

Sphingolipids, Sphingolipidoses and Allied Disorders
Author: International Symposium on the Cerebral Sphingolipidoses, 4th, Kingsbrook Jewish Medical Center, 1971
Publisher:
Total Pages: 691
Release: 1972
Genre: Tay-Sachs disease
ISBN:

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Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
Author: Aubrey Milunsky
Publisher: Springer Science & Business Media
Total Pages: 718
Release: 2012-12-06
Genre: Medical
ISBN: 1468434381

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Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.