Ankündigung Erscheint vsl. November 2021 Abbildung von Halper | Progress in Heritable Soft Connective Tissue Diseases | 2. Auflage | 2021 | 1348 |


Progress in Heritable Soft Connective Tissue Diseases

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Buch. Hardcover

2nd ed. 2021. 2021

x, 290 S. 2 s/w-Abbildungen, 30 Farbabbildungen, 35 Farbtabellen, Bibliographien.

In englischer Sprache

Springer. ISBN 978-3-030-80613-2

Format (B x L): 17,8 x 25,4 cm


This contributed volume represents a substantially revised and updated 2nd edition of a reference handbook on major structural components of soft connective tissues and a whole slew of heritable diseases of soft connective tissues. The number of clearly identifiable and distinct disorders has grown somewhat since the 1st edition in 2014, e.g., Ehlers-Danlos syndrome has now 13 entities. A brand new syndrome, Meester Loeys syndrome carrying the name of Bart Loeys was added as a companion to Loeys-Dietz syndrome. Numerous variations of cutis laxa and joint mobility disorders have been discovered taking advantage of recent advancements in genetic analysis. We have acquired a better understanding of the pathogenesis and biochemical changes in some other, more established entities, such as Marfan Syndrome and Collagen VI myopathies where better management and potential treatments are on the horizon. Even in the case of connective tissue diseases in domestic animals some progress has been made. All these updates were contributed by a group of distinguished and preeminent physicians and scientists, all of them not just working in the field but bringing us also their new discoveries in this volume. Readers will notice that seemingly there is an overlap among many of these disorders. Indeed, many of them if not most, are interconnected by the prominent roles of TGFß, of fibrillin microfibrils, collagen fibril assembly and other molecules, playing an important role in connective tissues physiology, and by extension, in the pathogenesis of many disorders described in the book. What I found particularly helpful, is that author(s) of each chapter bring their own perspective even when described closely related mechanism of the disease. These key observations should help with diagnosis and management of such cases. The book start with more general chapters that concentrate on the physiology, structure and biochemistry of normal soft tissues, which greatly helps to better understand the pathophysiology of connective tissue disorders. Last but not least, the chapters are very readable, more like detective stories than dry description of genetic/biochemical defects. I do hope that basic scientists and clinicians with similar and diverse interests alike will appreciate this volume and will be inspired by it to develop their research in the field.

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