Clinical and biochemical disorders of the skeleton:
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Oxford [u.a.]
Oxford Univ. Press
2005
|
| Edition: | 1. publ. |
| Subjects: | |
| Online Access: | Table of contents Publisher description Inhaltsverzeichnis |
| Physical Description: | XVI, 471 S. Ill., graph. Darst. |
| ISBN: | 0192617400 |
Staff View
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Record in the Search Index
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| adam_text | Contents
1. Introduction 1
2. The physiology and pathology of bone 5
Introduction 5
Skeletal development 6
Structure of bone 7
Bone cells 9
Bone mass 22
Bone matrix 27
Cartilage matrix 34
Bone mineralization 35
Calcium metabolism 35
Phosphorus and magnesium metabolism 42
Measurements of bone cell turnover 43
Genetics, the human genome, and DNA technology 47
Transgenic animals in bone biology 59
Bone and cartilage in disease 59
Discussion 61
Summary 62
3. Diagnosis and investigation 71
Introduction 71
Growth and stature 71
Clinical features 73
Investigation 80
Biochemistry 80
Radiological investigations 92
Bone biopsy 101
Other investigations 104
Discussion 104
Summary 104
4. Osteoporosis 109
Introduction 109
Definition 111
Osteoporosis and fracture 113
Epidemiology and cost of fracture 114
Pathophysiology 120
Bone mass and density 123
Bone strength 125
Causes of osteoporosis 126
Postmenopausal osteoporosis 127
Other causes of osteoporosis 144
Discussion 157
Summary 158
xiv Contents
5. Osteomalacia and rickets 173
Introduction 173
Causes 174
Pathophysiology 175
Clinical features 176
Specific types of osteomalacia 183
Discussion 199
Summary 200
6. Parathyroids and the skeleton 207
Introduction 207
Hypercalcaemia 207
Parathyroid overactivity 208
Parathyroid deficiency and resistance 216
Discussion 221
Summary 221
7. Paget disease 227
Introduction 227
Pathophysiology 227
Epidemiology 230
Genetics 231
Clinical features 232
Biochemistry 236
Radiology 237
Pathology 238
Differential diagnosis 239
Treatment 240
Familial expansile osteolysis 244
Expansile skeletal hyperphosphatasia 244
Juvenile Paget disease (idiopathic hyperphosphatasia) 245
Discussion 246
Summary 247
8. Neoplastic disease and other non parathyroid causes of hypercalcaemia 251
Introduction 251
Pathophysiology of cancer of the skeleton 252
Other non parathyroid causes of hypercalcaemia 256
Pathophysiology of hypercalcaemia 258
Clinical features of hypercalcaemia 258
Differential diagnosis of hypercalcaemia 259
Treatment of hypercalcaemia 259
Discussion 260
Summary 261
9. Osteogenesis imperfecta 265
Introduction 265
Definition and classification 265
Pathophysiology 267
Clinical types 269
Investigation 276
Contents xv
Diagnosis 276
Prognosis 277
Management 278
Biochemistry: genotype and phenotype 281
Genetic advice 283
Prenatal diagnosis 284
Non accidental injury 285
Osteoporosis pseudoglioma syndrome 286
Discussion 286
Summary 289
10. Chondrodysplasias 297
Introduction 297
Definition and classification 300
Pathophysiology 300
Achondroplasia 301
Hypochondroplasia 306
Thanatophoric dwarfism 306
Spondyloepiphyseal dysplasias 306
Stickler syndrome 308
Kniest dysplasia 309
Achondrogenesis 310
Multiple epiphyseal dysplasia 311
Pseudoachondroplasia 311
Metaphyseal chondrodysplasias 313
Diastrophic dysplasia 315
The craniosynostoses 316
Other dysplasias 317
Discussion 321
Summary 322
11. Osteopetrosis and osteosclerosis 327
Introduction 327
Classification 330
The osteopetroses 330
The osteosderoses 336
Discussion 344
Summary 345
12. Marfan syndrome and related disorders 349
Introduction 349
Marfan syndrome 350
Related disorders 361
Discussion 363
Summary 364
13. Ehlers Danlos syndrome and related disorders 367
Introduction 367
Classification 368
Pathophysiology 369
Clinical features 371
xvi Contents
Specific types of Ehlers Danlos syndrome 372
Differential diagnosis 377
Management 377
Discussion 378
Summary 378
14. Enzyme defects and the skeleton 381
Introduction 381
Homocystinuria 382
Hypophosphatasia 386
Alkaptonuria 389
The mucopolysaccharidoses 393
Disorders of copper enzymes 396
Discussion 398
Summary 398
15. Fibrous dysplasia 401
Introduction 401
Cause 401
Skeletal pathology 404
Clinical features 404
Differential diagnosis 408
Treatment 409
Cherubism 410
Familial craniofacial fibrous dysplasia 410
Discussion 410
Summary 411
16. Fibrogenesis imperfecta ossium and other disorders of mineralization 413
Introduction 413
Fibrogenesis imperfecta ossium 413
Other disorders of mineralization 418
Discussion 420
Summary 420
17. Ectopic mineralization 423
Introduction 423
Ectopic calcification 424
Ectopic ossification 430
Discussion 443
Summary 444
18. Recent advances 447
Glossary 455
Appendix:
Recommendations for bone marker nomenclature and abbreviations 461
Height Charts for girls and boys 462
Index 465
|
| adam_txt |
Contents
1. Introduction 1
2. The physiology and pathology of bone 5
Introduction 5
Skeletal development 6
Structure of bone 7
Bone cells 9
Bone mass 22
Bone matrix 27
Cartilage matrix 34
Bone mineralization 35
Calcium metabolism 35
Phosphorus and magnesium metabolism 42
Measurements of bone cell turnover 43
Genetics, the human genome, and DNA technology 47
Transgenic animals in bone biology 59
Bone and cartilage in disease 59
Discussion 61
Summary 62
3. Diagnosis and investigation 71
Introduction 71
Growth and stature 71
Clinical features 73
Investigation 80
Biochemistry 80
Radiological investigations 92
Bone biopsy 101
Other investigations 104
Discussion 104
Summary 104
4. Osteoporosis 109
Introduction 109
Definition 111
Osteoporosis and fracture 113
Epidemiology and cost of fracture 114
Pathophysiology 120
Bone mass and density 123
Bone strength 125
Causes of osteoporosis 126
Postmenopausal osteoporosis 127
Other causes of osteoporosis 144
Discussion 157
Summary 158
xiv Contents
5. Osteomalacia and rickets 173
Introduction 173
Causes 174
Pathophysiology 175
Clinical features 176
Specific types of osteomalacia 183
Discussion 199
Summary 200
6. Parathyroids and the skeleton 207
Introduction 207
Hypercalcaemia 207
Parathyroid overactivity 208
Parathyroid deficiency and resistance 216
Discussion 221
Summary 221
7. Paget disease 227
Introduction 227
Pathophysiology 227
Epidemiology 230
Genetics 231
Clinical features 232
Biochemistry 236
Radiology 237
Pathology 238
Differential diagnosis 239
Treatment 240
Familial expansile osteolysis 244
Expansile skeletal hyperphosphatasia 244
Juvenile Paget disease (idiopathic hyperphosphatasia) 245
Discussion 246
Summary 247
8. Neoplastic disease and other non parathyroid causes of hypercalcaemia 251
Introduction 251
Pathophysiology of cancer of the skeleton 252
Other non parathyroid causes of hypercalcaemia 256
Pathophysiology of hypercalcaemia 258
Clinical features of hypercalcaemia 258
Differential diagnosis of hypercalcaemia 259
Treatment of hypercalcaemia 259
Discussion 260
Summary 261
9. Osteogenesis imperfecta 265
Introduction 265
Definition and classification 265
Pathophysiology 267
Clinical types 269
Investigation 276
Contents xv
Diagnosis 276
Prognosis 277
Management 278
Biochemistry: genotype and phenotype 281
Genetic advice 283
Prenatal diagnosis 284
Non accidental injury 285
Osteoporosis pseudoglioma syndrome 286
Discussion 286
Summary 289
10. Chondrodysplasias 297
Introduction 297
Definition and classification 300
Pathophysiology 300
Achondroplasia 301
Hypochondroplasia 306
Thanatophoric dwarfism 306
Spondyloepiphyseal dysplasias 306
Stickler syndrome 308
Kniest dysplasia 309
Achondrogenesis 310
Multiple epiphyseal dysplasia 311
Pseudoachondroplasia 311
Metaphyseal chondrodysplasias 313
Diastrophic dysplasia 315
The craniosynostoses 316
Other dysplasias 317
Discussion 321
Summary 322
11. Osteopetrosis and osteosclerosis 327
Introduction 327
Classification 330
The osteopetroses 330
The osteosderoses 336
Discussion 344
Summary 345
12. Marfan syndrome and related disorders 349
Introduction 349
Marfan syndrome 350
Related disorders 361
Discussion 363
Summary 364
13. Ehlers Danlos syndrome and related disorders 367
Introduction 367
Classification 368
Pathophysiology 369
Clinical features 371
xvi Contents
Specific types of Ehlers Danlos syndrome 372
Differential diagnosis 377
Management 377
Discussion 378
Summary 378
14. Enzyme defects and the skeleton 381
Introduction 381
Homocystinuria 382
Hypophosphatasia 386
Alkaptonuria 389
The mucopolysaccharidoses 393
Disorders of copper enzymes 396
Discussion 398
Summary 398
15. Fibrous dysplasia 401
Introduction 401
Cause 401
Skeletal pathology 404
Clinical features 404
Differential diagnosis 408
Treatment 409
Cherubism 410
Familial craniofacial fibrous dysplasia 410
Discussion 410
Summary 411
16. Fibrogenesis imperfecta ossium and other disorders of mineralization 413
Introduction 413
Fibrogenesis imperfecta ossium 413
Other disorders of mineralization 418
Discussion 420
Summary 420
17. Ectopic mineralization 423
Introduction 423
Ectopic calcification 424
Ectopic ossification 430
Discussion 443
Summary 444
18. Recent advances 447
Glossary 455
Appendix:
Recommendations for bone marker nomenclature and abbreviations 461
Height Charts for girls and boys 462
Index 465 |
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| isbn | 0192617400 |
| language | English |
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| spelling | Smith, Roger Verfasser (DE-588)136841848 aut Clinical and biochemical disorders of the skeleton by Roger Smith and Paul Wordsworth Disorders of the skeleton 1. publ. Oxford [u.a.] Oxford Univ. Press 2005 XVI, 471 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Human skeleton Abnormalities Bones Metabolism Disorders Bone Diseases, Metabolic Bone Diseases, Developmental Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Skelett (DE-588)4133111-4 gnd rswk-swf Skelett (DE-588)4133111-4 s Stoffwechselkrankheit (DE-588)4057700-4 s b DE-604 Wordsworth, Paul Verfasser aut http://www.loc.gov/catdir/toc/ecip052/2004023576.html Table of contents http://www.loc.gov/catdir/enhancements/fy0635/2004023576-d.html Publisher description HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014869808&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Smith, Roger Wordsworth, Paul Clinical and biochemical disorders of the skeleton Human skeleton Abnormalities Bones Metabolism Disorders Bone Diseases, Metabolic Bone Diseases, Developmental Stoffwechselkrankheit (DE-588)4057700-4 gnd Skelett (DE-588)4133111-4 gnd |
| subject_GND | (DE-588)4057700-4 (DE-588)4133111-4 |
| title | Clinical and biochemical disorders of the skeleton |
| title_alt | Disorders of the skeleton |
| title_auth | Clinical and biochemical disorders of the skeleton |
| title_exact_search | Clinical and biochemical disorders of the skeleton |
| title_exact_search_txtP | Clinical and biochemical disorders of the skeleton |
| title_full | Clinical and biochemical disorders of the skeleton by Roger Smith and Paul Wordsworth |
| title_fullStr | Clinical and biochemical disorders of the skeleton by Roger Smith and Paul Wordsworth |
| title_full_unstemmed | Clinical and biochemical disorders of the skeleton by Roger Smith and Paul Wordsworth |
| title_short | Clinical and biochemical disorders of the skeleton |
| title_sort | clinical and biochemical disorders of the skeleton |
| topic | Human skeleton Abnormalities Bones Metabolism Disorders Bone Diseases, Metabolic Bone Diseases, Developmental Stoffwechselkrankheit (DE-588)4057700-4 gnd Skelett (DE-588)4133111-4 gnd |
| topic_facet | Human skeleton Abnormalities Bones Metabolism Disorders Bone Diseases, Metabolic Bone Diseases, Developmental Stoffwechselkrankheit Skelett |
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