Osteogenesis Imperfecta

A Translational Approach to Brittle Bone Disease
 
 
Academic Press
  • 1. Auflage
  • |
  • erschienen am 6. August 2013
  • |
  • 578 Seiten
 
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978-0-12-397789-2 (ISBN)
 

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.

  • 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
  • Englisch
  • Saint Louis
  • |
  • USA
Elsevier Science
  • 55,34 MB
978-0-12-397789-2 (9780123977892)
0123977894 (0123977894)
weitere Ausgaben werden ermittelt
  • Front Cover
  • Osteogenesis Imperfecta
  • Copyright Page
  • Dedication
  • Contents
  • Foreword
  • Acknowledgments
  • List of Contributors
  • I: INTRODUCTION
  • Introduction to Osteogenesis Imperfecta
  • 1. Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Bas.
  • 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
  • 2. Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology
  • Introduction
  • Clinical and Genetic Classifications of OI
  • Epidemiology of OI
  • References
  • 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
  • 4. Mineralized Tissue: Histology, Biology and Biochemistry
  • Introduction
  • Methodology
  • Tissue Sources
  • Analyses and How they Inform About Normal Vs. OI Bone as a Function of Age
  • Matrix and Whole Tissue Analysis
  • Histology
  • Electron Microscopy
  • Ftir and Raman Microspectroscopy and Imaging
  • Mineral Analyses
  • X-Ray Diffraction
  • Small-Angle Scattering
  • Quantitative Backscattered Electron Imaging
  • Chemical Analyses
  • Micro-Computed Tomography
  • Recent Biochemical and Genetic Analysis Related to Mineralization Processes
  • Normal and OI Mineralization Processes
  • Conclusions
  • Acknowledgments
  • References
  • 5. Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta
  • Introduction
  • Bone Components
  • Osteoblasts
  • Osteoclasts
  • Collagen
  • Collagen Feedback
  • Matrix Elaboration
  • Mutations in OI
  • Autosomal Dominant Mutations
  • Autosomal Recessive Mutations
  • Consequences
  • Skin and Fibroblasts in OI
  • In Vitro Effects on Collagen
  • In Vitro Effects in Other Molecular and Cellular Domains
  • Bone and Cells in the Osteoblastic Lineage in OI
  • In Vitro Effects on Osteoblasts
  • In Vitro Effects in Other Molecular and Cellular Domains
  • Osteoblast Differentiation
  • Osteoclasts in OI
  • Pathways Leading to Altered Osteoblast Differentiation
  • References
  • 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
  • Covering the Gap between Genotype and Phenotype
  • What Happens to Type I Collagen when the P3H1 Complex is not Working Properly?
  • The Amount of 3-Hydroxyproline in Type I Collagen is Generally Greatly Reduced when Components of the Complex are Missing o.
  • The Extent of type I Collagen Modification when Complex Components are Altered
  • Type I Collagen is Overmodified in Cases of P3H1 Mutations
  • Deficiencies in CRTAP Lead to Overmodified Type I Collagen
  • The Mystery of CypB and Collagen Modification
  • Secretion Rates of Type I Collagen in Mice and Patients with Mutations in the Complex
  • P3H1
  • CRTAP
  • CypB
  • Consequences of Overmodified Type I Collagen for Collagen Fibrils
  • Is OI Due to the Absence of the 3-Hyp?
  • What are the Possible Functions for the 3-Hydroxyl Group of Pro986 in the a1 Chain of Type I Collagen?
  • The Role of Collagen Chaperones in OI
  • Hsp47
  • FKBP65
  • Conclusions
  • References
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 13. Sequence Alterations in the Carboxyl-Terminal Propeptide Domain
  • Introduction
  • Mutations that Lead to Alterations in the Type I Procollagen C-propeptide Domain
  • Defects in the Pro-a1(I) Collagen C-Propeptide Domain
  • Defects in the Pro-a2(I) Collagen C-Propeptide Domain
  • Mutations that Interfere with Cleavage of the Procollagen Type I C-Propeptide
  • Genotype-Phenotype Correlations
  • Pro-a1(I) C-Propeptide Mutations
  • Pro-a2(I) C-Propeptide Mutations
  • Involvement of ER-Stress and an Unfolded Protein Response
  • Conclusion
  • References
  • 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
  • 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
  • 16. SERPINH1 and Osteogenesis Imperfecta
  • Introduction
  • HSP47 as a Protein Chaperone
  • HSP47 Binding to the Collagen Triple Helix
  • SERPINH1 Mutations and OI
  • Summary
  • References
  • 17. SERPINF1 as a Cause of Osteogenesis Imperfecta Type VI
  • Osteogenesis Imperfecta Type VI and SERPINF1
  • PEDF: Identification, Structure and Function
  • Conclusion
  • Acknowledgment
  • References
  • 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
  • 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
  • 20. Osteogenesis Imperfecta Type V
  • Molecular Genetic Aspect
  • Genotype
  • What is BRIL/IFITM5?
  • Clinical and Radiologic Manifestations
  • Features Common to OI
  • Radioulnar Interosseous Membrane Ossification (RUIMO) and Limitation in Forearm Rotation
  • Radial Head Dislocation (RHD)
  • Hyperplastic Callus Formation (HC) and other Abnormal Ossifications
  • Metaphyseal Radiodense Band (MRB)
  • Chest Wall Deformity
  • Histopathologic and Laboratory Findings
  • Therapeutic Interventions
  • References
  • V: ANIMAL MODELS OF OSTEOGENESIS IMPERFECTA
  • 21. Animal Models of Osteogenesis Imperfecta
  • Type I Collagen Gene Defects (Col1a1 and Col1a2)
  • Mov-13 Mouse (Col1a1)
  • Human COL1A1 Minigene Mouse (COL1A1)
  • G859C Mouse (Col1a1)
  • BrtlII and BrtlIV Mice (Col1a1)
  • OIM Mouse (Col1a2)
  • G610C Amish Mouse (Col1a2)
  • Aga2 Mouse (Col1a1)
  • Canine Models: G208A COL1A1 and COL1A2 Frameshift
  • Prolyl Hydroxylation (CRTAP/P3H1/CypB Complex)
  • CRTAP-/- Mouse
  • P3H1-/- Mouse
  • CypB (Ppib-/-) Mouse
  • Equine Model: [Hereditary Equine Regional Dermal Asthenia (HERDA)]
  • Chaperone: Folding and Secretion into the Matrix
  • Serpinh1 (Hsp47-/-) Mouse
  • Canine Model: SERPINH1 (L326P)
  • Osterix Null (Sp7-/-) Mouse
  • References
  • VI: BRITTLE BONE OVERLAP PHENOTYPES: TGF-BETA MUTATIONS AND BONE
  • 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
  • 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
  • Diagnostic Criteria
  • Historical Overview
  • Clinical Findings
  • Defect and Pathogenesis
  • Morphology of the Collagen Fibrils
  • Genetics
  • Genotype-Phenotype Correlation
  • Diagnosis and Differential Diagnosis
  • Management
  • Future Clinical Research
  • Dermatosparactic Type of EDS (EDS VIIC)
  • EDS-OI Overlap Syndromes
  • Locus Heterogeneity
  • Acknowledgments
  • References
  • VII: CLINICAL ASPECTS OF OSTEOGENESIS IMPERFECTA
  • 24. Changes in Bone Density during Development
  • Introduction
  • Methodological Considerations
  • Determinants of BMD in OI
  • Changes during Bone Development
  • Genotype-Phenotype Correlations
  • Vitamin D and Bone Mineral Density
  • Bisphosphonate Treatment Effects on Bmd in OI
  • Intravenous Bisphosphonates
  • Oral Bisphosphonates
  • Bisphosphonate Treatment Discontinuation
  • References
  • 25. Bone Histomorphometry
  • Introduction
  • The Bone Tissue Level in Classical OI
  • Modeling and Remodeling Defects in OI Types I, III and IV
  • The Influence of Vitamin D Status on OI Bone Tissue
  • Genotype-Phenotype Correlations in Patients with Collagen Type I Mutations
  • The Bone Tissue Level in Newer OI Types
  • OI Type V
  • OI Type VI
  • OI Type VII
  • Other OI Types
  • Effects of Bisphosphonate Treatment in OI
  • Adverse Effects of Bisphosphonate Treatment on the Tissue Level
  • References
  • 26. Osteogenesis Imperfecta and Pregnancy
  • Introduction
  • Cardiovascular System
  • Pulmonary Function
  • Skeleton
  • Calcium Metabolism
  • Management of Pregnancy, Labor and Delivery
  • Prenatal Diagnosis of OI
  • At-Risk Families
  • Ultrasound Diagnosis of OI
  • References
  • 27. Differential Diagnosis of Osteogenesis Imperfecta in Children
  • Introduction
  • Differential Diagnosis, by Age
  • Newborn/Infant
  • Prematurity
  • Hypophosphatasia
  • Abuse
  • Arthrogryposis Multiplex Congenita
  • Bruck Syndrome
  • Geroderma Osteodysplasticum
  • Osteoporosis Pseudoglioma (OPPG) Syndrome
  • Vitamin and Mineral Deficiencies
  • Childhood/Adolescence
  • Mucolipidosis Type II (I-Cell Disease)
  • Idiopathic Juvenile Osteoporosis
  • Exercise-Related Osteoporosis
  • Hypophosphatasia (HPP)
  • Ehlers-Danlos Syndrome (EDS)
  • Malabsorption Syndromes
  • Disuse Osteoporosis
  • Iatrogenic Osteoporosis
  • Summary
  • References
  • 28. The Differential Diagnosis of Adult Osteogenesis Imperfecta
  • Introduction
  • EDS and Type I OI
  • Idiopathic Osteoporosis
  • Marfan's Syndrome
  • Joint Hypermobility Syndrome
  • References
  • 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
  • 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
  • 31. Osteogenesis Imperfecta and the Eye
  • Basic Eye and Visual System Background
  • Overview
  • Sclera
  • Cornea
  • Lens
  • Vitreous
  • Retina, Retinal Pigment Epithelium, Bruch Membrane and Choroid
  • Optic Nerve and Visual System
  • OI and the Eye: an Overview of Eye Findings Related to OI
  • Historical Ocular Histology Studies in OI
  • Major Cornea Findings in OI
  • Corneal Thinning
  • Keratoconus
  • Keratoglobus
  • Cornea Plana
  • Descemet's Membrane Detachments
  • Corneal Opacities
  • Variations in Corneal Size
  • Refractive Errors and OI: Myopia , Hyperopia and Astigmatism
  • Anterior Segment Anomalies including Reiger's Anomaly and OI
  • Lens Findings in OI
  • Ectopia Lentis
  • Cataract
  • Presbyopia
  • Sclera Findings in OI
  • Progressive Myopia
  • Blue Sclerae and Decreased Ocular Rigidity
  • Scleral Rupture
  • Glaucoma and OI
  • Artificially Low Intraocular Pressures and OI
  • Vitreous and Retina Findings in OI
  • Vitreous and Retinal Hemorrhages
  • Rhegmatogenous Retinal Detachment
  • Choroidal Neovascularization
  • Macular Holes
  • Central Retinal Vein Occlusion
  • Other Retinopathies
  • Optic Nerve and Neuro-Ophthalmologic Findings in OI
  • Oculoplastic Findings in OI
  • Survey of Eye Problems in OI Patients from the Kennedy Krieger Institute 2013
  • General Considerations for OI Patients and Eye Care
  • Acknowledgment
  • References
  • 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
  • Serous Otitis Media
  • Ossicular Problems
  • Bone-Anchored Hearing aids
  • Implantable Hearing Aids
  • Sensorineural Hearing Loss and Hearing Aids
  • Cochlear Implants
  • Conclusions
  • References
  • 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
  • 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
  • 35. Pulmonary Function in Osteogenesis Imperfecta
  • Introduction
  • Severity of OI and Lung Disease
  • Diagnostic Issues in OI Lung Disease
  • Pulmonary Function Testing
  • Pulmonary Radiology
  • Evaluation for Sleep-Disordered Breathing
  • 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
  • 36. Osteogenesis Imperfecta and Basilar Invagination
  • Introduction
  • Clinical Symptoms
  • Diagnosis
  • Treatment
  • Conclusion
  • References
  • Further Reading
  • 37. Muscle, Tendon and Ligament in Osteogenesis Imperfecta
  • Introduction
  • Muscle
  • Tendon and Ligament
  • Conclusion
  • References
  • 38. Osteoarthritis and Other Joint Involvement
  • Introduction
  • Osteoarthritis
  • Shared Heritability and Genetic Factors
  • Alterations in the Rate of Bone Turnover
  • Structural Alterations in the Subchondral Bone
  • Preclinical Studies of the Association of OI with OA
  • Clinical Studies of the Relationship of OI and OA
  • Other Joint Involvement
  • References
  • 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
  • Radiographic Evaluation
  • Bone Scintigraphy
  • Magnetic Resonance Imaging (MRI)
  • Differential Diagnosis
  • Avascular Necrosis (AVN)
  • Disorders Related to Transient Osteoporosis
  • OI
  • Pregnancy
  • Treatment of Transient Osteoporosis
  • Conservative Non-Pharmacological Therapy
  • Core Decompression in Transient Osteoporosis
  • Pharmacological Therapy
  • Antiresorptive Agents
  • Bisphosphonates and Transient Osteoporosis
  • Calcitonin
  • Anabolic Agent
  • Prostacyclin Analog
  • Conclusion
  • References
  • 40. Nutrition in Osteogenesis Imperfecta
  • Introduction: Common Nutrition Related Problems in OI
  • Kcalorie and Macronutrient Needs
  • Kcalories
  • Protein
  • Fats
  • Carbohydrate
  • Fiber
  • Micronutrients and OI
  • Calcium and Bone Health
  • Vitamin D and Bone Health (see Chapter 56)
  • Other Micronutrients
  • Fluid
  • Special Needs of Infants, Children and Adolescents with OI
  • Infants and Toddlers
  • Pre-Puberty and Adolescence
  • Pregnancy and Lactation
  • Physical Activity
  • Conclusion
  • References
  • 41. Ethical Implications of Osteogenesis Imperfecta across the Lifespan
  • Ethical Issues: Lethal Perinatal, Type II OI
  • Uncertainty of Prenatal Diagnosis
  • Difficult Decisions about Pregnancy and Delivery
  • Mode of Delivery
  • Perinatal Care
  • Ethical Issues: Severe OI, Pediatric
  • Shared Decision-Making Continuum
  • Role of Assent for Health Care Decision-Making
  • Ethical Issues: Severe OI, Adult
  • Balancing Autonomy and Beneficence
  • Justice
  • Eugenics
  • Disability Rights Critique
  • Summary
  • References
  • 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
  • 43. Scoliosis and Kyphosis in Osteogenesis Imperfecta
  • Introduction
  • Craniocervical Junction Abnormalities
  • Spondylolisthesis and Spondylolysis
  • Scoliosis and Kyphosis
  • Prevalence, Risk Factors and Consequences
  • Treatment
  • References
  • 44. Spinal Fractures, Spondylolysis and Spondylolysthesis
  • Introduction
  • Spine Fractures
  • Cervical Spine
  • Spondylolysis and Spondylolisthesis
  • Treatment
  • Summary
  • References
  • 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
  • Plates
  • Regular Rods (K Wire and Rush Rods)
  • Telescopic Rods
  • Telescoping Problems (Non-Telescoping)
  • Rod Migration (Proximal or Distal)
  • Bowing or Breakage
  • Disengagement of the Female and Male Components
  • Growth Disturbance
  • Conclusion
  • References
  • 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
  • Indications and Timing of Surgical Management
  • Preoperative Evaluation
  • Selection of Implant
  • Postoperative Management
  • Complications
  • Fractures in Special Locations
  • Non-Union
  • Non-Union Following Osteotomy
  • Non-Union Following Fractures
  • References
  • 47. Pediatric Limb Reconstruction in Osteogenesis Imperfecta
  • Introduction
  • Etiology of Deformity
  • Other Extremity Issues in OI
  • Problems Caused by Limb Deformity
  • Treatment of Deformity
  • Medical Management of Deformity
  • Brace Treatment of Deformity
  • Surgical Correction of Deformity in OI
  • Rodding Technique Evolution
  • Non-Union in OI
  • Specialized Rods for the Treatment of Long Bone Deformity in OI
  • Other Considerations at the Time of Surgical Deformity Correction
  • Complications of Deformity Correction
  • Combination Medical and Surgical Management
  • References
  • 48. Adult Limb Deformity Reconstruction in Osteogenesis Imperfecta
  • Introduction
  • Indications
  • Surgical Techniques
  • Osteotomies
  • Allograft Struts
  • Placement/Revision of Implants
  • Results and Complications
  • Surgical Outcomes
  • Correction of Limb Deformities
  • Stabilization of Non-Unions
  • Revision of Prominent Implant
  • Chronic Pain and Functional Impairment
  • Complications
  • Development of Prominent Implant
  • Non-Union of Osteotomies
  • Other Surgical Complications
  • Summary and Conclusions
  • References
  • 49. Joint Replacement in Patients with Osteogenesis Imperfecta
  • Introduction
  • Pathophysiology of Osteoarthritis in OI
  • Anesthetic Considerations
  • Preoperative Planning
  • Perioperative Considerations
  • Hip Replacement
  • Femoral Component
  • Knee
  • Conclusion
  • References
  • 50. Orthotics and Osteogenesis Imperfecta
  • General Care
  • Styles of Orthoses
  • TLSO/LSO (Thoraco Lumbar Sacral Orthosis/Lumbar Sacral Orthosis)
  • Scoliosis
  • Example
  • Kyphosis/Lordosis
  • Spinal Fractures
  • Lower Extremity Orthotics
  • Foot Orthotics
  • AFOs (Ankle Foot Orthosis)
  • KAFOs (Knee Ankle Foot Orthosis)
  • HKAFOs (Hip Knee Ankle Foot Orthosis)
  • Fracture Bracing
  • Upper Extremity Orthotics
  • Fabrication
  • Molding and Measuring
  • Measuring
  • Example
  • Molding
  • Fabrication
  • Fitting and Delivery
  • References
  • X: PHYSICAL MEDICINE AND REHABILITATION
  • 51. Functional Outcome Measures in Children with Osteogenesis Imperfecta
  • Introduction
  • Body Function and Structure
  • Range of Joint Motion
  • Muscle Strength
  • Mobility and Gait Pattern
  • Physical Fitness
  • Pain
  • Fatigue
  • Participation and Activities
  • Motor Development
  • Functional Ability
  • Perceived Competence and Quality of Life
  • Outcome Measures and Utilized Instruments
  • Discussion
  • References
  • 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
  • 53. Bisphosphonates
  • Bisphosphonates
  • Safety of Bisphosphonates
  • References
  • 54. Bisphosphonate Treatment and Related Agents in Children
  • Intravenous Bisphosphonate Treatment
  • Effects of Intravenous Pamidronate
  • Intravenous Bisphosphonates Other than Pamidronate
  • Oral Bisphosphonates
  • Complications of Bisphosphonate Treatment
  • Other Medical Treatments
  • Future Treatments
  • Conclusions
  • References
  • 55. Osteogenesis Imperfecta: Maintenance of Adult Bone Health
  • Introduction
  • Bone Metabolism in Adult Aging and in Adults with OI
  • Biomarkers of Bone Turnover
  • Bone Biomarkers Reflecting Bone Formation in Adults with OI
  • Bone Biomarkers Reflecting Bone Resorption
  • Bone Biomarkers as Reflecting Treatment Results and Compliance
  • 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)
  • Anti-Sclerostin Antibodies
  • References
  • 56. Pharmacologic Treatment of Osteogenesis Imperfecta: New Agents and their Potential Implications for Osteogenesis .
  • Introduction
  • Supplementation and OI
  • Vitamin D
  • Calcium and Magnesium
  • Anabolic Agents and OI
  • Recombinant Parathyroid Hormone
  • Sclerostin Antibodies
  • Strontium Ranelate
  • Antiresorptive Agents and OI
  • RANK-Ligand Inhibitors
  • Cathepsin K Inhibitors
  • Future Targets for Therapy
  • Conclusions
  • References
  • XII: GENETIC APPROACH TO TREATMENT OF OSTEOGENESIS IMPERFECTA
  • 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
  • Augment Gene Activity
  • Gene Inactivation
  • Gene Correction
  • Rationale and Challenges for a Cell-Based Therapy for OI
  • Tissue Source for Cell Therapy of OI
  • Adult Tissues
  • Induced Pleuripotential (iPS) Cells
  • Preclinical Test Platforms for Cell Therapy of OI
  • Develop and Understand a Cell-Based Therapy in Murine Models of OI
  • Use of Murine Models to Develop Protocols for Engraftment by Human Osteoblasts
  • Build Murine Models of OI as a Platform to Evaluate Corrected Human iPS Cells
  • Acknowledgement
  • References
  • 58. New Discoveries in Osteogenesis Imperfecta
  • Introduction
  • Tmem38B and OI
  • WNT1 Mutations and OI
  • Summary
  • References
  • Index

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