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Osteogenesis Imperfecta
A Translational Approach to Brittle Bone Disease
- 1st Edition - August 6, 2013
- Editors: Javaid Kassim, Jay R. Shapiro, Paul Sponseller
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 3 9 7 1 6 5 - 4
- eBook ISBN:9 7 8 - 0 - 1 2 - 3 9 7 7 8 9 - 2
Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews o… Read more
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Request a sales quoteOsteogenesis 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.
- Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult
- Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI
- Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future
- Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI
Biomedical researchers and research clinicians in the fields of endocrinology, orthopedics, pediatrics, rheumatology, and genetics, who study and treat bone diseases
Foreword
Acknowledgments
List of Contributors
Section 1: INTRODUCTION
Introduction to Osteogenesis Imperfecta
Jay R. Shapiro, Peter Byers, Francis Glorieux and Paul Sponseller
1. Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta
David Owen Sillence and Shireen R. Lamande
2. Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology
Jay R. Shapiro
3. The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership
Tracy Smith Hart and Mary Beth Huber
Section 2: BONE BIOLOGY, STRUCTURE AND BIOCHEMISTRY
4. Mineralized Tissue: Histology, Biology and Biochemistry
Adele L. Boskey and Stephen B. Doty
5. Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta
Neal S. Fedarko
6. The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens
Elena Pokidysheva, Kazunori Mizuno and Hans Peter Bächinger
7. Collagen Structure, Folding and Function
Elena Makareeva and Sergey Leikin
8. Bone Matrix Proteoglycans in Skeletal Function
Vardit Kram and Marian F. Young
Section 3: CLINICAL AND MOLECULAR GENETICS OF OSTEOGENESIS IMPERFECTA
9. Patterns of Inheritance in Osteogenesis Imperfecta
Julie S. Cohen
10. Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships
Raymond Dalgleish
Section 4: COL1A1 AND COL1A2 MUTATIONS
11. Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta
Barbara Brodsky and Anton Persikov
12. Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms and Clinical Effects
Peter H. Byers
13. Sequence Alterations in the Carboxyl-Terminal Propeptide Domain
Fransiska Malfait, Sofie Symoens and Anne De Paepe
14. Recessive Osteogenesis Imperfecta Due to Mutations in CRTAP, LEPRE1 and PPIB
Erica P. Homan, Brendan Lee and Roy Morello
15. FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome
Deborah Krakow and Yasemin Alanay
16. SERPINH1 and Osteogenesis Imperfecta
Jay R. Shapiro
17. SERPINF1 as a Cause of Osteogenesis Imperfecta Type VI
Kyu Sang Joeng, Monica Grover, Abbhirami Rajagopal and Brendan H. Lee
18. OSX/SP7 Mutations and Osteogenesis Imperfecta
José Antonio Caparrós-Martín, Mona Aglan, Samia Temtamy, Víctor Martínez-Glez, María Valencia, Jair Tenorio, Pablo Lapunzina and Víctor Ruiz Pérez
19. BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta
José A. Caparrós-Martín, Víctor Martínez-Glez, María Valencia, Mona Aglan, Jair Tenorio, Samia Temtamy, Pablo Lapunzina and Víctor L. Ruiz-Perez
20. Osteogenesis Imperfecta Type V
Tae-Joon Cho and Pierre Moffatt
Section 5: ANIMAL MODELS OF OSTEOGENESIS IMPERFECTA
21. Animal Models of Osteogenesis Imperfecta
Charlotte L. Phillips, Stephanie M. Carleton and Bettina A. Gentry
Section 6: BRITTLE BONE OVERLAP PHENOTYPES: TGF-BETA MUTATIONS AND BONE
22. Transforming Growth Factor Beta and Bone: Lessons Learned from TGFbeta-Related Conditions
Bart Loeys
23. Arthrochalasis Type of Ehlers–Danlos Syndrome (EDS Types VIIA and VIIB) and Related Disorders
Cecilia Giunta and Beat Steinmann
Section 7: CLINICAL ASPECTS OF OSTEOGENESIS IMPERFECTA
24. Changes in Bone Density during Development
Frank Rauch
25. Bone Histomorphometry
Frank Rauch
26. Osteogenesis Imperfecta and Pregnancy
Deborah Krakow
27. Differential Diagnosis of Osteogenesis Imperfecta in Children
V. Reid Sutton
28. The Differential Diagnosis of Adult Osteogenesis Imperfecta
Alan Burshell and Satish Pasala
29. Growth and Growth Hormone Use in Osteogenesis Imperfecta
Emily L. Germain-Lee, Douglas J. Digirolamo, and Horacio Plotkin
Section 8: ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
30. Skin in Osteogenesis Imperfecta
Anna L. Chien, Euphemia W. Mu and Sewon Kang
31. Osteogenesis Imperfecta and the Eye
Felix Y. Chau, Dana Wallace, Thasarat Vajaranant, Leon Herndon, Paul Lee, Pratap Challa, Rand Allingham and Irene Maumenee
32. Hearing Loss in Osteogenesis Imperfecta
Joseph P. Pillion, Felipe Santos, David M. Vernick and Jay Shapiro
33. Oral-Facial Aspects of Osteogenesis Imperfecta
Jean-Marc Retrouvey, Stéphane Schwartz and James K. Hartsfield
34. Cardiovascular Disease in Osteogenesis Imperfecta
Daniel P. Judge
35. Pulmonary Function in Osteogenesis Imperfecta
Robert A. Sandhaus
36. Osteogenesis Imperfecta and Basilar Invagination
Kyriakos Papadimitriou, Ali A. Baaj and Jean-Paul Wolinsky
37. Muscle, Tendon and Ligament in Osteogenesis Imperfecta
Varun Puvanesarajah and Paul D. Sponseller
38. Osteoarthritis and Other Joint Involvement
Bansari Gujar and Marc Hochberg
39. Transient Migratory Osteoporosis in Osteogenesis Imperfecta
Jay R. Shapiro
40. Nutrition in Osteogenesis Imperfecta
Elisabeth Enagonia
41. Ethical Implications of Osteogenesis Imperfecta across the Lifespan
Marilyn E. Coors
42. Osteogenesis Imperfecta and Non-Accidental Trauma
Dina J. Zand, P. Leigh Bishop, Kenneth N. Rosenbaum and Eglal Shalaby-Rana
Chapter 9: ORTHOPEDICS
43. Scoliosis and Kyphosis in Osteogenesis Imperfecta
Varun Puvanesarajah and Paul D. Sponseller
44. Spinal Fractures, Spondylolysis and Spondylolysthesis
Paul W. Esposito and Vincent Arlet
45. Implant Considerations in Long Bones in Osteogenesis Imperfecta
François R. Fassier and Marie Gdalevitch
46. Treatment of Fractures and Non-Unions in Children with Osteogenesis Imperfecta
Lewis E. Zionts and Richard E. Bowen
47. Pediatric Limb Reconstruction in Osteogenesis Imperfecta
Steven L. Frick, Paul D. Sponseller and Arabella Leet
48. Adult Limb Deformity Reconstruction in Osteogenesis Imperfecta
Stephen Jacobsen and Paul D. Sponseller
49. Joint Replacement in Patients with Osteogenesis Imperfecta
Pierre H. M. Pechon and Simon C. Mears
50. Orthotics and Osteogenesis Imperfecta
Michelle Koehler
Section 10: PHYSICAL MEDICINE AND REHABILITATION
51. Functional Outcome Measures in Children with Osteogenesis Imperfecta
Raoul H.H. Engelbert, Marco Van Brussel and Eugene Rameckers
52. Rehabilitation for Adults with Osteogenesis Imperfecta
Melissa K. Trovato, Scott C. Schultz and Christopher Joseph
Section 11: PHARMACOLOGIC TREATMENT OF OSTEOGENESIS IMPERFECTA
53. Bisphosphonates
Nick J. Bishop and Graham Russell
54. Bisphosphonate Treatment and Related Agents in Children
Frank Rauch
55. Osteogenesis Imperfecta: Maintenance of Adult Bone Health
Jay R. Shapiro and Feng-Shu Brennen
56. Pharmacologic Treatment of Osteogenesis Imperfecta: New Agents and their Potential Implications for Osteogenesis Imperfecta
Eric S. Orwoll and Elizabeth Martin
Section 12: GENETIC APPROACH TO TREATMENT OF OSTEOGENESIS IMPERFECTA
57. The Potential of Gene and Cell-Based Strategies for the Treatment of Osteogenesis Imperfecta
David W. Rowe
58. New Discoveries in Osteogenesis Imperfecta
Jay R. Shapiro
Index
- No. of pages: 578
- Language: English
- Edition: 1
- Published: August 6, 2013
- Imprint: Academic Press
- Hardback ISBN: 9780123971654
- eBook ISBN: 9780123977892
JK
Javaid Kassim
Affiliations and expertise
Professor of Pathology and of Medicine; Adjunct Professor of Genome Sciences, Department of Genomic Sciences, University of Washington, Seattle, WA, USAJS
Jay R. Shapiro
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).
Affiliations and expertise
Director, Osteogenesis Imperfecta Program, Kennedy Krieger Institute; Professor of Medicine, Department of Physical Medicine and Rehabilitation, Johns Hopkins University School of Medicine, Baltimore, MD, USAPS
Paul Sponseller
Affiliations and expertise
Director, Division of Orthopaedics and Chief, Division of Pediatric Orthopaedics Johns Hopkins Children’s Center; Professor of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USARead Osteogenesis Imperfecta on ScienceDirect