Osteogenesis Imperfecta · A Translational Approach to Brittle Bone Disease by Shapiro, Jay R. -- Read -- Imperial Library of Trantor

Index

Cover image Title page Table of Contents Copyright Dedication Foreword Acknowledgments List of Contributors I: Introduction

Chapter 1. Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta

Advances in Collagen Protein Biochemistry Led to Identification of the First OI Mutations Molecular Biology of Collagen Genes and its Relevance to OI Research A Return to Research in Matrix Biology Collagen and Molecular Chaperones Defects in Mineralization Whole Gene Deletions Patient and Parent Support Organizations and the Facilitation of Research in OI Reviews and Doctoral Theses Pamidronate Modified OI (Less Severe) Future Research References

Chapter 2. Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology

Introduction Clinical and Genetic Classifications of OI Epidemiology of OI References

Chapter 3. The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership

OI Foundation History OI Research is Complicated The Role of the OI Foundation in Research A Model that Works But Wait, There’s More In Conclusion

II: Bone Biology, Structure and Biochemistry

Chapter 4. Mineralized Tissue: Histology, Biology and Biochemistry

Introduction Methodology Normal and OI Mineralization Processes Conclusions Acknowledgments References

Chapter 5. Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta

Introduction Bone Components Mutations in OI Consequences Pathways Leading to Altered Osteoblast Differentiation References

Chapter 6. The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens

Introduction Procollagen Biosynthesis A New Paradigm in OI Discovery of the P3H1/CRTAP/CypB Complex Role of the Prolyl 3-Hydroxylase 1 Complex in OI The Extent of type I Collagen Modification when Complex Components are Altered Consequences of Overmodified Type I Collagen for Collagen Fibrils Is OI Due to the Absence of the 3-Hyp? The Role of Collagen Chaperones in OI Conclusions References

Chapter 7. Collagen Structure, Folding and Function

Introduction: Collagen Role in Osteogenesis Imperfecta (OI) Type I Collagen Collagen Triple Helix Procollagen Folding Procollagen Trafficking Assembly and Function of Collagen Fibers Dysregulation of Type I Collagen Homeostasis by Gly Substitutions Conclusion Acknowledgment References

Chapter 8. Bone Matrix Proteoglycans in Skeletal Function

SLRPs Modular PGs Cell Surface PGs Direct Association Between OI and PG Concluding Remarks References

III: Clinical and Molecular Genetics of Osteogenesis Imperfecta

Chapter 9. Patterns of Inheritance in Osteogenesis Imperfecta

Introduction to Inheritance Patterns Autosomal Dominant OI Autosomal Recessive OI Perinatal Lethal OI Genetic Testing and Counseling in OI References

Chapter 10. Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships

Introduction Codon and Exon Numbering, Reference Sequences and Database Entries Deletions Involving one or More Exons Helical-Region Amino Acid Substitutions Start Codons, Premature Termination Codons and Frameshifts Splice-Site Variants Amino Acid Deletions and Duplications Intrafamilial Variability Variant Summary References

IV: COL1A1 and COL1A2 Mutations

Chapter 11. Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta

Introduction Overview of OI Gly Missense Mutations Effect of Gly Missense Mutations on the Collagen Triple-Helix Structure Collagen Triple-Helix Stability and Gly Missense Mutations Gly Missense Mutations and Folding of OI Collagens Overview and Future Direction References

Chapter 12. Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms and Clinical Effects

Introduction Collagen Protein Structure, Genes and Type of Mutations Mechanisms of Haploinsufficiency Nonsense Mediated mRNA Decay Frequency of Haploinsufficiency Mutations in the Type I Collagen Genes References

Chapter 13. Sequence Alterations in the Carboxyl-Terminal Propeptide Domain

Introduction Mutations that Lead to Alterations in the Type I Procollagen C-propeptide Domain Genotype–Phenotype Correlations Involvement of ER-Stress and an Unfolded Protein Response Conclusion References

Chapter 14. Recessive Osteogenesis Imperfecta Due to Mutations in CRTAP, LEPRE1 and PPIB

Collagen Post-Translational Modifications and the Protein Components of the Prolyl 3-Hydroxylation Complex Osteogenesis Imperfecta (OI) Patients with Distinguishing Characteristics Mutations Identified in Lepre1 and Ppib and Patient Clinical Descriptions Mouse Phenotypes with Mutations in Crtap, Lepre1 and Ppib Genes Putative Role of Collagen Prolyl 3-Hydroxylation and Pathogenetic Mechanisms of Mutations in these Genes Conclusion References

Chapter 15. FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome

Introduction FKBP Proteins FKBP10/FKBP65 (Protein) FKBP10 (Gene) and OI Bruck Syndrome (BS) FKBP10 and Bruck Syndrome (BS) FKBP and Collagen Crosslinking References

Chapter 16. SERPINH1 and Osteogenesis Imperfecta

Introduction HSP47 as a Protein Chaperone HSP47 Binding to the Collagen Triple Helix SERPINH1 Mutations and OI Summary References

Chapter 17. SERPINF1 as a Cause of Osteogenesis Imperfecta Type VI

Osteogenesis Imperfecta Type VI and SERPINF1 PEDF: Identification, Structure and Function Conclusion Acknowledgment References

Chapter 18. OSX/SP7 Mutations and Osteogenesis Imperfecta

Introduction The Process of Osteoblast Differentiation and its Relation with Osterix The SP7 Protein and the Sp7 Gene OSX Mouse Model Patients Reported with Mutations in SP7 SP7/Osx Expression and Other Functions Final Comments References

Chapter 19. BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta

Introduction BMP1 and its Relation to Collagen ia1 and ia2 Proteins The BMP1 Protein and the BMP1 Gene Patients Reported with Mutations in Bmp1 Comparison of Findings in Mutated Patients and Transgenic Animals Final Comments References

Chapter 20. Osteogenesis Imperfecta Type V

Molecular Genetic Aspect Clinical and Radiologic Manifestations Histopathologic and Laboratory Findings Therapeutic Interventions References

V: Animal Models of Osteogenesis Imperfecta

Chapter 21. Animal Models of Osteogenesis Imperfecta

Type I Collagen Gene Defects (Col1a1 and Col1a2) Prolyl Hydroxylation (CRTAP/P3H1/CypB Complex) Chaperone: Folding and Secretion into the Matrix References

VI: Brittle Bone Overlap Phenotypes: TGF-Beta Mutations and Bone

Chapter 22. Transforming Growth Factor Beta and Bone: Lessons Learned from TGFbeta-Related Conditions

Introduction Normal TGFbeta Signaling Cascade TGFbeta in Syndromes with Tall Stature and/or Long Bone Overgrowth TGFbeta in Syndromes with Short Stature Role of Extracellular Matrix and TGFbeta in Skeletal Growth References

Chapter 23. Arthrochalasis Type of Ehlers–Danlos Syndrome (EDS Types VIIA and VIIB) and Related Disorders

Introduction Arthrochalasis Type of EDS: EDS Types VIIA and VIIB Dermatosparactic Type of EDS (EDS VIIC) EDS–OI Overlap Syndromes Locus Heterogeneity Acknowledgments References

VII: Clinical Aspects of Osteogenesis Imperfecta

Chapter 24. Changes in Bone Density during Development

Introduction Methodological Considerations Determinants of BMD in OI Bisphosphonate Treatment Effects on Bmd in OI References

Chapter 25. Bone Histomorphometry

Introduction The Bone Tissue Level in Classical OI The Bone Tissue Level in Newer OI Types Effects of Bisphosphonate Treatment in OI References

Chapter 26. Osteogenesis Imperfecta and Pregnancy

Introduction Cardiovascular System Pulmonary Function Skeleton Management of Pregnancy, Labor and Delivery Prenatal Diagnosis of OI Ultrasound Diagnosis of OI References

Chapter 27. Differential Diagnosis of Osteogenesis Imperfecta in Children

Introduction Differential Diagnosis, by Age Summary References

Chapter 28. The Differential Diagnosis of Adult Osteogenesis Imperfecta

Introduction EDS and Type I OI Idiopathic Osteoporosis Marfan’s Syndrome Joint Hypermobility Syndrome References

Chapter 29. Growth and Growth Hormone Use in Osteogenesis Imperfecta

Impaired Linear Growth in Osteogenesis Imperfecta (OI) Action of the Growth Hormone–IGF-1 Axis in Skeletal Growth Clinical Testing for Growth Hormone and IGF-1 Growth Hormone and IGF-1 Testing in Patients with OI Growth Hormone Treatment: Current FDA-Approved Indications Growth Hormone Trials in Skeletal Conditions Benefits of rGH Treatment in GH-Deficient Patients Growth Hormone Use in GH-Sufficient Children Side Effects and Risks of Growth Hormone Treatment Growth Effects of Bisphosphonate Treatment in OI Growth Hormone and Combined Growth Hormone/Bisphosphonate Trials in OI Future Directions References

VIII: Organ Involvement in Osteogenesis Imperfecta

Chapter 30. Skin in Osteogenesis Imperfecta

Introduction Normal Structure and Function of Skin Cutaneous Manifestations of OI Pathophysiology of Dermatologic Findings in OI Histopathology of Skin in OI Differential Diagnosis of Skin Findings in OI Treatment of Cutaneous Symptoms in OI Summary and Recommendations References

Chapter 31. Osteogenesis Imperfecta and the Eye

Basic Eye and Visual System Background OI and the Eye: an Overview of Eye Findings Related to OI Survey of Eye Problems in OI Patients from the Kennedy Krieger Institute 2013 General Considerations for OI Patients and Eye Care Acknowledgment References

Chapter 32. Hearing Loss in Osteogenesis Imperfecta

Introduction Temporal Bone Findings Radiology Measurement of Hearing Types of Hearing Loss Vestibular Dysfunction and OI Management of Hearing Loss in OI Bisphosphonates Conductive Hearing Loss Bone-Anchored Hearing aids Implantable Hearing Aids Sensorineural Hearing Loss and Hearing Aids Cochlear Implants Conclusions References

Chapter 33. Oral-Facial Aspects of Osteogenesis Imperfecta

Introduction The Dentition in Children with OI Dentinogenesis Imperfecta (DI) and OI Bisphosphonates and OI Patients Concerns about Dental Care in Adults Craniofacial Features of OI Conclusion References

Chapter 34. Cardiovascular Disease in Osteogenesis Imperfecta

Introduction Heart Valve Disease Arterial Disease Myocardial Disease Pathophysiology of Cardiovascular Disease in OI Medical Treatment Surgical Treatment Summary References

Chapter 35. Pulmonary Function in Osteogenesis Imperfecta

Introduction Severity of OI and Lung Disease Diagnostic Issues in OI Lung Disease Clinical Patterns of Lung Disease in OI Follow-Up and Treatment of OI Lung Disease Review of Recent Literature and the Future of Lung Disease in OI Conclusions References

Chapter 36. Osteogenesis Imperfecta and Basilar Invagination

Introduction Clinical Symptoms Diagnosis Treatment Conclusion References Further Reading

Chapter 37. Muscle, Tendon and Ligament in Osteogenesis Imperfecta

Introduction Muscle Tendon and Ligament Conclusion References

Chapter 38. Osteoarthritis and Other Joint Involvement

Introduction Osteoarthritis Preclinical Studies of the Association of OI with OA Clinical Studies of the Relationship of OI and OA Other Joint Involvement References

Chapter 39. Transient Migratory Osteoporosis in Osteogenesis Imperfecta

Introduction Clinical Features of TMO The Etiology of TMO Bone Histology and Clinical Laboratory Tests in TMO Imaging in Transient Osteoporosis Differential Diagnosis Disorders Related to Transient Osteoporosis Treatment of Transient Osteoporosis Conclusion References

Chapter 40. Nutrition in Osteogenesis Imperfecta

Introduction: Common Nutrition Related Problems in OI Kcalorie and Macronutrient Needs Micronutrients and OI Fluid Special Needs of Infants, Children and Adolescents with OI Pregnancy and Lactation Physical Activity Conclusion References

Chapter 41. Ethical Implications of Osteogenesis Imperfecta across the Lifespan

Ethical Issues: Lethal Perinatal, Type II OI Ethical Issues: Severe OI, Pediatric Ethical Issues: Severe OI, Adult Summary References

Chapter 42. Osteogenesis Imperfecta and Non-Accidental Trauma

Brief Historical Review of Child Abuse and the Law Clinical and Radiologic Manifestations of Non-Accidental Trauma Clinical and Radiologic Differences Between OI and Non-Accidental Trauma Differential Diagnosis of the Child with Multiple Fractures Recommended Evaluation Process for the Child with Suspected Non-Accidental Trauma Closing Comments References

IX: Orthopedics

Chapter 43. Scoliosis and Kyphosis in Osteogenesis Imperfecta

Introduction Craniocervical Junction Abnormalities Spondylolisthesis and Spondylolysis Scoliosis and Kyphosis References

Chapter 44. Spinal Fractures, Spondylolysis and Spondylolysthesis

Introduction Spine Fractures Cervical Spine Spondylolysis and Spondylolisthesis Treatment Summary References

Chapter 45. Implant Considerations in Long Bones in Osteogenesis Imperfecta

Rodding (Tutor Effect) A Rod. Why not a Plate? Rodding of OI Bones Complications of Limb Surgery in OI Conclusion References

Chapter 46. Treatment of Fractures and Non-Unions in Children with Osteogenesis Imperfecta

Introduction Classification Systems Evaluation and Diagnosis Role of Medical Management to Reduce Fractures Closed Treatment of Fractures The Role of Surgical Management to Decrease Fractures Non-Union References

Chapter 47. Pediatric Limb Reconstruction in Osteogenesis Imperfecta

Introduction Etiology of Deformity Problems Caused by Limb Deformity Treatment of Deformity Combination Medical and Surgical Management References

Chapter 48. Adult Limb Deformity Reconstruction in Osteogenesis Imperfecta

Introduction Indications Surgical Techniques Results and Complications Surgical Outcomes Complications Summary and Conclusions References

Chapter 49. Joint Replacement in Patients with Osteogenesis Imperfecta

Introduction Pathophysiology of Osteoarthritis in OI Anesthetic Considerations Preoperative Planning Perioperative Considerations Conclusion References

Chapter 50. Orthotics and Osteogenesis Imperfecta

General Care Styles of Orthoses Fabrication References

X: Physical Medicine and Rehabilitation

Chapter 51. Functional Outcome Measures in Children with Osteogenesis Imperfecta: A Review of the Literature using the ICF and Perspectives for Treatment

Introduction Body Function and Structure Participation and Activities Outcome Measures and Utilized Instruments Discussion References

Chapter 52. Rehabilitation for Adults with Osteogenesis Imperfecta

Rehabilitation from Musculoskeletal Injury Specific Rehabilitation Protocols for Musculoskeletal Injury Evaluation Treatment Components of Care Pain and Loss of Mobility Associated With Aging Rehabilitation to Maintain Mobility Cardiac Rehabilitation Pulmonary Rehabilitation Conclusion References

XI: Pharmacologic Treatment of Osteogenesis Imperfecta

Chapter 53. Bisphosphonates

Bisphosphonates Safety of Bisphosphonates References

Chapter 54. Bisphosphonate Treatment and Related Agents in Children

Intravenous Bisphosphonate Treatment Oral Bisphosphonates Complications of Bisphosphonate Treatment Other Medical Treatments Future Treatments Conclusions References

Chapter 55. Osteogenesis Imperfecta: Maintenance of Adult Bone Health

Introduction Bone Metabolism in Adult Aging and in Adults with OI Biomarkers of Bone Turnover Vitamin D and the Response to Treatment in Adults with OI Dietary Calcium Supplements in Adults with OI Bisphosphonate Treatment in Adults with OI Teriparatide Treatment in Adult OI Agents Under Study with Potential Application to OI (Circa December 2012) References

Chapter 56. Pharmacologic Treatment of Osteogenesis Imperfecta: New Agents and their Potential Implications for Osteogenesis Imperfecta

Introduction Supplementation and OI Anabolic Agents and OI Antiresorptive Agents and OI Future Targets for Therapy Conclusions References

XII: Genetic Approach to Treatment of Osteogenesis Imperfecta

Chapter 57. The Potential of Gene and Cell-Based Strategies for the Treatment of Osteogenesis Imperfecta

Introduction Selecting the Appropriate Therapy for the Underlying Disease Mechanism (Table 57.1) Molecular Approaches and Safety Considerations for Gene Therapy Rationale and Challenges for a Cell-Based Therapy for OI Tissue Source for Cell Therapy of OI Preclinical Test Platforms for Cell Therapy of OI Acknowledgement References

Chapter 58. New Discoveries in Osteogenesis Imperfecta

Introduction Tmem38B and OI WNT1 Mutations and OI Summary References

Index

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