Overview
- Provides an update on the pathophysiology of heritable soft connective tissue diseases
- Discusses the role of individual components of the extracellular matrix in specific aspects of various soft tissue disorders
- Can be used as a diagnostic guide for clinicians with tables correlating syndromes with symptoms, clinical signs and laboratory findings
- Offers new management options and therapeutic directions
Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 802)
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Table of contents (14 chapters)
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Front Matter
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Back Matter
Keywords
About this book
This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them.
Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues.
This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.
Reviews
From the reviews:
“This is a compilation of recent information on the area of connective tissue disorders and the human pathology involved. … The audience is vast, from clinicians involved in the diagnosis and treatment of patients with connective tissue anomalies to primary care physicians in search to update their knowledge … . This is an outstanding resource for trainees in medical genetics at all levels, as well as for experienced medical geneticists.” (Luis F. Escobar, Doody’s Book Reviews, May, 2014)
Editors and Affiliations
Bibliographic Information
Book Title: Progress in Heritable Soft Connective Tissue Diseases
Editors: Jaroslava Halper
Series Title: Advances in Experimental Medicine and Biology
DOI: https://doi.org/10.1007/978-94-007-7893-1
Publisher: Springer Dordrecht
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature B.V. 2014
Softcover ISBN: 978-94-024-0774-7Published: 18 September 2016
eBook ISBN: 978-94-007-7893-1Published: 18 January 2014
Series ISSN: 0065-2598
Series E-ISSN: 2214-8019
Edition Number: 1
Number of Pages: VIII, 245
Number of Illustrations: 4 b/w illustrations, 31 illustrations in colour
Topics: Human Genetics, Cell Physiology, Internal Medicine