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Rapid Review of Selected Topics
Last-Minute Review of Commonly Tested Details
| 1. | Name three disorders associated with G-protein defects? | 1. | Fibrous dysplasia Calcium sensing receptor (CaSR) Pseudohypoparathyroidism (gene GNAS1) |
| 2. | What four disorders are associated with weakness of the pelvic and shoulder girdles? | 2. | Temporal arteritis Limb girdle dystrophy Duchenne muscular dystrophy Polymyositis/dermatomyositis |
| 3. | What two disorders may affect the jaw? | 3. | Caffey Giant cell reactive granuloma (feet and hands) |
| 4. | Hemosiderin is present on the histology of what three disorders? | 4. | Nonossifying fibroma Pigmented villonodular synovitis (PVNS) Brown tumors (associated with primary hyperparathyroidism) |
| 5. | Melanin is seen with what disorder? | 5. | Clear cell sarcoma |
| 6. | What three viruses may be associated with Paget’s? | 6. | Respiratory syncytial virus (RSV) Paramyxovirus Canine distemper |
| 7. | What virus may be associated with rheumatoid arthritis? | 7. | Epstein-Barr virus (EBV) |
| 8. | High levels of type III collagen are seen in what three clinical situations? | 8. | Dupuytren’s Early ligament healing Developmental dysplasia of the hip (DDH) |
Review of Disorders Identified on Urine Testing
| 9. | High urinary levels of homogentisic acid are associated with what disorder? | 9. | Ochronosis or alkaptonuria |
| 10. | What enzyme is deficient? | 10. | Homogentisic acid oxidase |
| 11. | What is the characteristic clinical feature? | 11. | Black intervertebral disks |
| 12. | High urinary levels of homocysteine are associated with what disorder? | 12. | Homocystinuria |
| 13. | What enzyme is deficient? | 13. | Cystathionine synthetase |
| 14. | What are the two characteristic clinical features? | 14. | Inferior lens dislocation Osteopenia |
