Marfan Syndrome: A Primer for Clinicians and Scientists by Peter N. Robinson (En

Description: Marfan Syndrome by Peter N. Robinson, Maurice Godfrey Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account VictorA. McKusick l n 1876, E. Williams, an ophthalmologistin Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth. I Although there is a Williams syndrome that has aortic manifestations (supravalvar aortic stenosis), the name Williams was never associated with the disorder we now call Marfan syndrome. The reason is clear: Williamswas geographically removed from the leading medical centers and published in the Transactions of the American Ophthalmological Society; surely his report attracted little attention and the non-ocular features were not emphasized. 2 The case report that brought the disorder to attention was provided by a prominent PariÂ sian professor of pediatrics, Antoine Bernard-Jean Marfan (1858-1942), who did much to establish pediatrics as a specialty in France and elsewhere. He was the author of widely read textbooks and monographson pediatrictopics and waseditor of Le Nourrisson for a great many years. In addition to the syndromeunder discussion here, his name is often attached to "Marfans law" (that immunity to pulmonary phthisis is conferred by the healing of a local tuberculous 3 lesion) and Marfans subxiphoid approach for aspiratingfluid from the pericardial sac. (Please pardon my use of the possessive form of the eponym in these two instances!) Pictures of Marfan (Fig FORMAT Paperback LANGUAGE English CONDITION Brand New Publisher Description Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account VictorA. McKusick l n 1876, E. Williams, an ophthalmologistin Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth. I Although there is a Williams syndrome that has aortic manifestations (supravalvar aortic stenosis), the name Williams was never associated with the disorder we now call Marfan syndrome. The reason is clear: Williamswas geographically removed from the leading medical centers and published in the Transactions of the American Ophthalmological Society; surely his report attracted little attention and the non-ocular features were not emphasized. 2 The case report that brought the disorder to attention was provided by a prominent Pari- sian professor of pediatrics, Antoine Bernard-Jean Marfan (1858-1942), who did much to establish pediatrics as a specialty in France and elsewhere. He was the author of widely read textbooks and monographson pediatrictopics and waseditor of Le Nourrisson for a great many years.In addition to the syndromeunder discussion here, his name is often attached to "Marfans law" (that immunity to pulmonary phthisis is conferred by the healing of a local tuberculous 3 lesion) and Marfans subxiphoid approach for aspiratingfluid from the pericardial sac. (Please pardon my use of the possessive form of the eponym in these two instances!) Pictures of Marfan (Fig. Table of Contents Introduction: Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account.- Diagnosis and Treatment of Marfan Syndrome—A Summary.- Orthopaedic Problems in Marfan Syndrome.- Ophthalmological Aspects.- Cardiovascular Aspects of the Marfan Syndrome: A Systematic Review.- Cardiovascular Surgery: Surgical Management of the Marfan Patient at the Johns Hopkins Hospital.- Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segmentsand Myocardium.- Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods, Clinical Indications.- The Marfan Mutation Database.- Familial Thoracic Aortic Aneurysms and Dissections.- Fibrillin-2 Mutations in Congenital Contractural Arachnodactyly.- Assembly of Microfibrils.- Organization and Biomechanical Properties of Fibrillin Microfibrils.- Microfibril-AssodatedGlycoprotein-1 (MAGP-1) and Other Non-Fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils.- The Fibrillins and Key Molecular Mechanisms that Initiate Disease Pathways.- Insights into Fibrillin-1 Structure and Function from Domain Studies.- Genetics of Marfan Syndrome in Mouse Models.- Appendix: Marfan Syndrome Patient Organizations. Promotional Springer Book Archives Long Description Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account VictorA. McKusick l n 1876, E. Williams, an ophthalmologistin Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth. I Although there is a Williams syndrome that has aortic manifestations (supravalvar aortic stenosis), the name Williams was never associated with the disorder we now call Marfan syndrome. The reason is clear: Williamswas geographically removed from the leading medical centers and published in the Transactions of the American Ophthalmological Society; surely his report attracted little attention and the non-ocular features were not emphasized. 2 The case report that brought the disorder to attention was provided by a prominent Pari Description for Sales People Marfan Syndrome is a hereditary disorder of connective tissue which primarily affects the cardiovascular, skeletal, and ocular systems. Remarkable progress in the field has been made in both clinical and basic-science research since the discovery of the gene for fibrillin-1 (FBN1) in 1991, mutations in which cause the Marfan syndrome. Marfan Syndrome: A Primer for Clinicians and Scientists presents a comprehensive overview of clinical aspects of Marfan syndrome, FBN1 mutation analysis, the biology of fibrillin and fibrillin-containing microfibrils, and the molecular pathogenesis of the Marfan syndrome. The authors are prominent and active researchers in clinical and basic-science research on Marfan syndrome and fibrillin. Details ISBN1461347572 Publisher Springer-Verlag New York Inc. Series Medical Intelligence Unit Year 2012 ISBN-10 1461347572 ISBN-13 9781461347576 Format Paperback Publication Date 2012-11-15 Imprint Springer-Verlag New York Inc. Subtitle A Primer for Clinicians and Scientists Place of Publication New York, NY Country of Publication United States Edited by Maurice Godfrey DEWEY 616.773 Short Title MARFAN SYNDROME SOFTCOVER REPR Language English Media Book Pages 218 Illustrations XV, 218 p. AU Release Date 2012-11-15 NZ Release Date 2012-11-15 US Release Date 2012-11-15 UK Release Date 2012-11-15 Author Maurice Godfrey Edition Description Softcover reprint of the original 1st ed. 2004 Alternative 9780306482380 Audience Professional & Vocational We've got this At The Nile, if you're looking for it, we've got it. 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