Osteogenesis Imperfecta - 1st Edition - ISBN: 9780123971654, 9780123977892

Osteogenesis Imperfecta

1st Edition

A Translational Approach to Brittle Bone Disease

Editor-in-Chiefs: Jay Shapiro
Editors: Peter Byers Paul Sponseller
Hardcover ISBN: 9780123971654
eBook ISBN: 9780123977892
Imprint: Academic Press
Published Date: 11th September 2013
Page Count: 578
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Description

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.

Key Features

  • 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

Readership

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

Table of 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

Details

No. of pages:
578
Language:
English
Copyright:
© Academic Press 2014
Published:
Imprint:
Academic Press
eBook ISBN:
9780123977892
Hardcover ISBN:
9780123971654

About the Editor-in-Chief

Jay 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, USA

About the Editor

Peter Byers

Affiliations and Expertise

Professor of Pathology and of Medicine; Adjunct Professor of Genome Sciences, Department of Genomic Sciences, University of Washington, Seattle, WA, USA

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, USA

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