Progress in Heritable Soft Connective Tissue Diseases

ISBN-13: 9789402407747 / Angielski / Miękka / 2016 / 245 str.

Jaroslava Halper

Opis

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.

Recenzje

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)

Spis treści

Chapter 1: Structure, physiology and biochemistry of collagens (Michael J. Mienaltowski and David E. Birk)
Chapter 2: Basic components of connective tissues and extracellular matrix (Jaroslava Halper and Michael Kjaer)
Chapter 3: Proteoglycans and diseases of soft tissues (Jaroslava Halper)
Chapter 4: Advances in the use of growth factors for treatment of disorders of soft tissues (Jaroslava Halper)
Chapter 5: Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome (Jason R. Cook and Francesco Ramirez)
Chapter 6: Loeys-Dietz syndrome (Lut Van Laer, Harry Dietz and Bart Loeys)
Chapter 7: Connective Tissue Disorders and Cardiovascular Complications: The indomitable role of Transforming Growth Factor-beta signaling
(Jason B. Wheeler, John S.konomidis, and Jeffrey A. Jones)
Chapter 8: The Ehlers-Danlos Syndrome (Fransiska Malfait and Anne De Paepe)
Chapter 9: Ehlers–Danlos syndrome associated with glycosaminoglycan abnormalities (Noriko Miyake, Tomoki Kosho, Naomichi Matsumoto)
Chapter 10: Cutis laxa (Miski Mohamed, Michiel Voet, Thatjana Gardeitchik and Eva Morava)
Chapter 11: Collagen type VI myopathies (Kate M.D. Bushby, James Collins and Debbie Hicks)
Chapter 12: Mouse Models in Tendon and Ligament Research (Michael J. Mienaltowski and David E. Birk)
Chapter 13: Connective tissue disorders in domestic animals (Jaroslava Halper)