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    Marfan Syndrome: A Primer for Clinicians and Scientists (Medical Intelligence Unit (Unnumbered)) (Hardback) Edited by Peter N. Robinson, Edited by Matthias Winzen, Edited by Maurice Godfrey

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    DescriptionHistorical 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 "Marfan's law" (that immunity to pulmonary phthisis is conferred by the healing of a local tuberculous 3 lesion) and Marfan's 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.


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    Title
    Marfan Syndrome
    Subtitle
    A Primer for Clinicians and Scientists
    Authors and contributors
    Edited by Peter N. Robinson, Edited by Matthias Winzen, Edited by Maurice Godfrey
    Physical properties
    Format: Hardback
    Number of pages: 233
    Width: 155 mm
    Height: 235 mm
    Thickness: 14 mm
    Weight: 538 g
    Language
    English
    ISBN
    ISBN 13: 9780306482380
    ISBN 10: 030648238X
    Classifications

    BIC E4L: HEA
    B&T Book Type: NF
    Nielsen BookScan Product Class 3: S6.2
    Ingram Subject Code: PI
    BISAC V2.8: MED081000
    LC subject heading:
    B&T Modifier: Region of Publication: 01
    LC subject heading:
    B&T Modifier: Text Format: 40
    B&T General Subject: 510
    BISAC V2.8: SCI029000
    B&T Modifier: Academic Level: 02
    B&T Merchandise Category: MAJ
    BISAC V2.8: SCI049000, SCI008000
    LC subject heading:
    BISAC V2.8: MED107000, MED035000
    Warengruppen-Systematik des deutschen Buchhandels: 16940
    LC subject heading:
    BISAC V2.8: MED045000, SCI017000
    BIC subject category V2: MJE
    BISAC V2.8: MED083000
    LC classification: QH431
    DC22: 616.7/73
    LC classification: RC580.M37 M37 2004
    LC subject heading:
    DC22: 616.773
    LC subject heading:
    Libri: BIND2000
    LC classification: R-RZ, RC1-1245, QH573-671, RB155-155.8
    Thema V1.0: MBP, PSAK, PSF, PSD, MFN, MJE
    Edition statement
    2004 ed.
    Illustrations note
    biography
    Publisher
    Springer Science+Business Media
    Imprint name
    Kluwer Academic/Plenum Publishers
    Publication date
    01 December 2004
    Table of contents
    The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account.- Diagnosis and Treatment of Marfan Syndrome - 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 Segments and 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-Associated Glycoprotein-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.