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Progress in Heritable Soft Connective Tissue Diseases

Part of the Advances in Experimental Medicine and Biology Book Series (volume 802)

Editors: Halper, Jaroslava

DOI: 10.1007/978-94-007-7893-1

ISBN: 978-94-007-7892-4

Publisher: Springer Netherlands - Springer Journals

Dec 14, 2013

1 - 10 of 14 Chapters

LitStream

Chapter 1Introduction

Halper, Jaroslava

Pages: 1 –3

[Marfan and Ehlers-Danlos syndromes are the two best known and most studied heritable disorders of soft tissues. The contrast between what was known about clinical presentation and symptomatology, pathology, and mode of inheritance of what we call Marfan syndrome today when it was described first...
LitStream

Chapter 2Structure, Physiology, and Biochemistry of Collagens

Mienaltowski, Michael J.; Birk, David E.

Pages: 5 –29

[Tendons and ligaments are connective tissues that guide motion, share loads, and transmit forces in a manner that is unique to each as well as the anatomical site and biomechanical stresses to which they are subjected. Collagens are the major molecular components of both tendons and ligaments....
LitStream

Chapter 3Basic Components of Connective Tissues and Extracellular Matrix: Elastin, Fibrillin, Fibulins, Fibrinogen, Fibronectin, Laminin, Tenascins and Thrombospondins

Halper, Jaroslava; Kjaer, Michael

Pages: 31 –47

[Collagens are the most abundant components of the extracellular matrix and many types of soft tissues. Elastin is another major component of certain soft tissues, such as arterial walls and ligaments. Many other molecules, though lower in quantity, function as essential components of the...
LitStream

Chapter 4Proteoglycans and Diseases of Soft Tissues

Halper, Jaroslava

Pages: 49 –58

[Proteoglycans consist of a protein core to which at least one glycosaminoglycan chain is attached. They play important roles in the physiology and biomechanical function of tendons, ligaments and cardiovascular system through their involvement in regulation of assembly and maintenance of...
LitStream

Chapter 5Advances in the Use of Growth Factors for Treatment of Disorders of Soft Tissues

Halper, Jaroslava

Pages: 59 –76

[Repair and healing of injured and diseased tendons have been traditionally fraught with apprehension and difficulties, and often lead to rather unsatisfactory results. The burgeoning research field of growth factors has opened new venues for treatment of tendon disorders and injuries, and...
LitStream

Chapter 6Clinical, Diagnostic, and Therapeutic Aspects of the Marfan Syndrome

Cook, Jason R.; Ramirez, Francesco

Pages: 77 –94

[Marfan syndrome (MFS) is a relatively common and often lethal disease of connective tissue. Medical, surgical and basic research advances over the last two decades have had a major positive impact on the clinical management of MFS patients. Life expectancy has increased significantly, more...
LitStream

Chapter 7Loeys-Dietz Syndrome

Van Laer, Lut; Dietz, Harry; Loeys, Bart

Pages: 95 –105

[Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at...
LitStream

Chapter 8Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-Beta Signaling

Wheeler, Jason B.; Ikonomidis, John S.; Jones, Jeffrey A.

Pages: 107 –127

[Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that cosegregate with a similar pattern of cardiovascular defects (thoracic aortic aneurysm, mitral valve prolapse/regurgitation, and aortic root dilatation with regurgitation). This pattern of...
LitStream

Chapter 9The Ehlers-Danlos Syndrome

Malfait, Fransiska; De Paepe, Anne

Pages: 129 –143

[The Ehlers-Danlos Syndromes comprise a heterogeneous group of diseases, which are characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments and joints, blood vessels and internal organs. The clinical spectrum varies from mild skin and joint...
LitStream

Chapter 10Ehlers–Danlos Syndrome Associated with Glycosaminoglycan Abnormalities

Miyake, Noriko; Kosho, Tomoki; Matsumoto, Naomichi

Pages: 145 –159

[Ehlers–Danlos syndrome (EDS) is a genetically and clinically heterogeneous group of connective tissue disorders that typically present with skin hyperextensibility, joint hypermobility, and tissue fragility. The major cause of EDS appears to be impaired biosynthesis and enzymatic modification of...

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