Progress In Heritable Soft Connective Tissue Diseases 2nd Ed 2021 by , 9783030806132, 3030806138 instant download after payment.

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. The first edition of this volume on Progress in Heritable Soft Connective Tissue Diseases was published in 2014. The volume proved to be a success with readers – it has been downloaded more than 90,000 times. At least two factors seem to account for this achievement. One is the topic itself: important and still intriguing disorders with gaps in what we know about their pathogenesis, be it Marfan symdrome, the conglomerate of Ehlers-Danlos syndrome and the expanding slew of hypermobility entities. I suspect that the roster of accomplished authors is the 2nd factor responsible for wide readership. The author list of the 2nd edition is similar to the first edition. Several contributors to the 1st edition were not able to participate because of previous commitments. However, we were able to recruit other, prominent scientists and rising stars. The new edition will bring updates on disorders already discussed in the 1st edition. Marfan and Ehlers-Danlos syndromes are the two best known and most studied heritable disorders of soft tissues, however, there are many other conditions, though less common and even rare which represent continuum in clinical presentation and thus make diagnosis more challenging. Perhaps even more importantly, what was suggested as one important factor in the first edition is becoming a thread woven through these diseases. This thread is transforming growth factor ß and its canonical and non-canonical pathways which play havoc to organization and function of connective tissue. Several chapters touch on these last issues as well. As it was with the first edition the purpose of this book is to bridge basic science and clinical application, and so it could serve as a reference handbook for basic scientists and clinicians seeing patients and as a starting stone for new investigations and studies.