Osteogenesis Imperfecta book cover

Osteogenesis Imperfecta

A Translational Approach to Brittle Bone Disease

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.

Audience

Biomedical researchers and research clinicians in the fields of endocrinology, orthopedics, pediatrics, rheumatology, and genetics, who study and treat bone diseases

Hardbound, 578 Pages

Published: September 2013

Imprint: Academic Press

ISBN: 978-0-12-397165-4

Reviews

  • "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


Contents

  • 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

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