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Osteogenesis Imperfecta
A Translational Approach to Brittle Bone Disease
First reference to summarize the basic, translational, and clinical progress in the study of ostoegenesis imperfecta and related brittle bone diseases
Jay R. Shapiro (Editor-in-chief), Javaid Kassim (Edited by), Paul Sponseller (Edited by)
9780123971654
Hardback, published 24 October 2013
578 pages
27.6 x 21.5 x 3.3 cm, 1.9 kg
"Shapiro…, Byers, Glorieux, and Sponseller compile 58 chapters by an international group of orthopedists, geneticists, bone specialists, and other physicians and researchers, who describe osteogenesis imperfecta. They address the basic science and clinical practice, as well as future research and its relevance to treatment and care, for basic scientists and clinicians." --Reference & Research Book News, December 2013 "A monumental nearly 600 page textbook about OI has recently been published. This comprehensive reference is a collection of chapters by an international group of physicians and researchers…Their goal was to bring together in one volume the latest information about the biochemistry, genetics, research questions and treatments available to manage OI in children and adults. A special feature is an advanced discussion of surgical techniques applicable to OI." --OI Foundation E-News, September 2013
Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI.
Foreword
Acknowledgments
List of Contributors
Section 1: INTRODUCTION
Section 2: BONE BIOLOGY, STRUCTURE AND BIOCHEMISTRY
Section 3: CLINICAL AND MOLECULAR GENETICS OF OSTEOGENESIS IMPERFECTA
Section 4: COL1A1 AND COL1A2 MUTATIONS
Section 5: ANIMAL MODELS OF OSTEOGENESIS IMPERFECTA
Section 6: BRITTLE BONE OVERLAP PHENOTYPES: TGF-BETA MUTATIONS AND BONE
Section 7: CLINICAL ASPECTS OF OSTEOGENESIS IMPERFECTA
Section 8: ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
Chapter 9: ORTHOPEDICS
Section 10: PHYSICAL MEDICINE AND REHABILITATION
Section 11: PHARMACOLOGIC TREATMENT OF OSTEOGENESIS IMPERFECTA
Section 12: GENETIC APPROACH TO TREATMENT OF OSTEOGENESIS IMPERFECTA
Index
Subject Areas: Genetics [non-medical PSAK], Life sciences: general issues [PSA], Endocrinology [MJG]
