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First reference to summarize the basic, translational, and clinical progress in the study of ostoegenesis imperfecta and related brittle bone diseases

Table of Contents

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

About the Author

Dr. Jay R. Shapiro is a graduate of Franklin and Marshall College and the Boston University School of Medicine. He serves as Professor in the Department of Physical Medicine and Rehabilitation and Director of the Bone and Osteogenesis Imperfecta Department at the Kennedy Krieger Institute. He served as Director of the General Clinical Research Center at Johns Hopkins University and is on the Medical Advisory Committee of the Osteogenesis Imperfecta Foundation. Dr. Shapiro also served as the Chief for the Bone Team of the National Space Biomedical Research Institute. Dr. Shapiro has specialty interests in endocrine, metabolic and genetic disorders of bone. Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity on the International Space Station (NASA).

Reviews

"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