Osteogenesis Imperfecta
A Translational Approach to Brittle Bone Disease
- 2nd Edition - August 1, 2029
- Latest edition
- Editors: Jay R. Shapiro, Javaid Kassim, Sergey Leikin, Paul Sponseller
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 8 1 5 3 2 6 - 0
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 1 5 3 2 7 - 7
Osteogeneis Imperfecta: A Translational Approach to Brittle Bone Disease, Second Edition is the translational reference to which professionals turn to for comprehensive inform… Read more
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Osteogeneis Imperfecta: A Translational Approach to Brittle Bone Disease, Second Edition is the translational reference to which professionals turn to for comprehensive information on the topic. Separate chapters discuss each of the several clinical features of OI. Basic researchers from all areas of endocrine, orthopedic, and rheumatologic research will gain insight into how clinical observations and practices can feed back into the research cycle, leading to more targeted genomic and proteomic insights into the mechanisms of osteogenesis imperfecta and concomitant diseases.
This is an essential resource for scientists and clinicians in the OI field. It provides a unique overview for the orthopedic surgeon with an advanced discussion of applicable surgical techniques and discusses the role of physical medicine and rehabilitation for patients, the current status of medical treatment and the prospects for genetic engineering in the future.
This is an essential resource for scientists and clinicians in the OI field. It provides a unique overview for the orthopedic surgeon with an advanced discussion of applicable surgical techniques and discusses the role of physical medicine and rehabilitation for patients, the current status of medical treatment and the prospects for genetic engineering in the future.
- Saves time in quickly assessing the very latest details on the diverse scientific and clinical aspects of this disease as opposed to searching through hundreds of journal articles or massive textbooks
- Provides a common language for biomedical researchers and research clinicians across biomedical disciplines to discuss the consequences of osteogenesis imperfecta in endocrine and orthopedic diseases as well as the development of therapies
- Offers new insights into the underlying mechanisms of collagen biochemistry, as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones
- Discusses the role of physical medicine and rehabilitation for patients, the current status of medical treatment, as well as prospects for genetic engineering in the future
Biomedical researchers, research clinicians, graduate students, and fellows in the fields of endocrinology, bone biology, osteology, and rheumatology
1. Historical Overview
2. Epidemiology, Clinical, and Genetic Classification of OI
3. The OI Community and Scientific Research – A Valuable Partnership
4. Mineralized Tissue Histology, Biology, and Biochemistry
5. Osteoblast/Osteoclast Development and Function in OI
6. The Collagen Folding Machinery: Biosynthesis and Posttranslational Modificationsof Collagens
7. Collagen structure, Folding and Function
8. Bone matrix Proteoglycans and their Partners in Skeletal Function
9. Inheritance Patterns—Introduction to mode of inheritance, pedigree symbols
10. OI Genotypes and Genotype/Phenotype Relationships
11. Substitutions for glycine in the triple helical domain
12. Mutations that lead to haploinsufficiency
13. Sequence alterations in the C-propeptide domain
14. CTAP, LEPRE: PPIB
15. Bruck's Syndrome and Osteogenesis Imperfecta
16. SERPINH1
17. SERPINF1
18. OSX/SP7 Mutations and OI
19. BMP1 Mutations
20. Type V
21. Animal Models of OI
22. Loeys Dietz Syndrome
23. EDS type VII and related disorders
Clinical Aspects of OI
24. Radiology of OI Skeletal Development: Changes in bone density in OI
25. Histopathology
26. OI and Pregnancy, Pre-implantation and prenatal diagnosis incl. ultrasound Dx.
27. Differential Diagnosis of OI in Children
28. Differential Diagnosis of OI in Adults
29. Growth Hormone Use in OI
30. Skin in OI
31. Eye: Blue Sclerotics/Fragile Cornea
32. Ear
33. Dental
34. Cardiovascular Medical/Surgical
35. Pulmonary Function in OI
36. Basilar invagination, syringomyelia
37. Muscle:Tendons and Ligaments
38. Osteoarthritis and other Joint involvement
39. The Syndrome of Transient Edema in OI
40. Nutrition in OI
41. Ethical Issues in OI
42. OI and Non-Accidental Trauma
Orthopedics
43. Scoliosis and Kyphosis
44. Spine fractures, Spondylolysis, spondylolisthesis
45. Implant considerations in long bones in OI
46. Fracture Treatment, Non- union
47. Pediatric Limb Reconstruction
48. Adult Limb reconstruction in OI
49. Joint Replacement in OI
50. Use of Orthoses in OI
51. Aims and Objectives of Rehabilitation in Children
52. Aims and Objectives of Rehabilitation in Adults
Pharmacologic Treatment of OI
53. Bisphosphonate Drug Characteristics (Perhaps combine the three chapters on bisphosphonates)
54. Bisphosphonate and related agents: use In Children
55. Bisphosphonate Treatment of Adults
56. Other Agents Studied in OI or Agents with Potential : Teripartide, Vitamin D supplementation, Densuomab, Sclerostin antibodies
Genetic Approach to Treatment of OI
57. Gene correction or modification and stem cell replacement
58. New Discoveries (Expand)
2. Epidemiology, Clinical, and Genetic Classification of OI
3. The OI Community and Scientific Research – A Valuable Partnership
4. Mineralized Tissue Histology, Biology, and Biochemistry
5. Osteoblast/Osteoclast Development and Function in OI
6. The Collagen Folding Machinery: Biosynthesis and Posttranslational Modificationsof Collagens
7. Collagen structure, Folding and Function
8. Bone matrix Proteoglycans and their Partners in Skeletal Function
9. Inheritance Patterns—Introduction to mode of inheritance, pedigree symbols
10. OI Genotypes and Genotype/Phenotype Relationships
11. Substitutions for glycine in the triple helical domain
12. Mutations that lead to haploinsufficiency
13. Sequence alterations in the C-propeptide domain
14. CTAP, LEPRE: PPIB
15. Bruck's Syndrome and Osteogenesis Imperfecta
16. SERPINH1
17. SERPINF1
18. OSX/SP7 Mutations and OI
19. BMP1 Mutations
20. Type V
21. Animal Models of OI
22. Loeys Dietz Syndrome
23. EDS type VII and related disorders
Clinical Aspects of OI
24. Radiology of OI Skeletal Development: Changes in bone density in OI
25. Histopathology
26. OI and Pregnancy, Pre-implantation and prenatal diagnosis incl. ultrasound Dx.
27. Differential Diagnosis of OI in Children
28. Differential Diagnosis of OI in Adults
29. Growth Hormone Use in OI
30. Skin in OI
31. Eye: Blue Sclerotics/Fragile Cornea
32. Ear
33. Dental
34. Cardiovascular Medical/Surgical
35. Pulmonary Function in OI
36. Basilar invagination, syringomyelia
37. Muscle:Tendons and Ligaments
38. Osteoarthritis and other Joint involvement
39. The Syndrome of Transient Edema in OI
40. Nutrition in OI
41. Ethical Issues in OI
42. OI and Non-Accidental Trauma
Orthopedics
43. Scoliosis and Kyphosis
44. Spine fractures, Spondylolysis, spondylolisthesis
45. Implant considerations in long bones in OI
46. Fracture Treatment, Non- union
47. Pediatric Limb Reconstruction
48. Adult Limb reconstruction in OI
49. Joint Replacement in OI
50. Use of Orthoses in OI
51. Aims and Objectives of Rehabilitation in Children
52. Aims and Objectives of Rehabilitation in Adults
Pharmacologic Treatment of OI
53. Bisphosphonate Drug Characteristics (Perhaps combine the three chapters on bisphosphonates)
54. Bisphosphonate and related agents: use In Children
55. Bisphosphonate Treatment of Adults
56. Other Agents Studied in OI or Agents with Potential : Teripartide, Vitamin D supplementation, Densuomab, Sclerostin antibodies
Genetic Approach to Treatment of OI
57. Gene correction or modification and stem cell replacement
58. New Discoveries (Expand)
- Edition: 2
- Latest edition
- Published: August 1, 2029
- Language: English
JS
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, USAJK
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, USASL
Sergey Leikin
Affiliations and expertise
Professor of Surgery, Pediatrics and Human Genetics, McGill University; Adjunct Professor of Pediatrics, University of Montreal; Director of Research, Shriners Hospital for Children, Montreal, QC CanadaPS
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