Term
| mutation in achondroplasia |
|
Definition
| FGFR3 gene= overexpression inhibits growth |
|
|
Term
| clinical features of achondroplasia |
|
Definition
| short extremities with normal seized head and chest |
|
|
Term
| endochondral bone formation |
|
Definition
| formation of a cartilage matrix which then is replaced bybont; for long bone growth |
|
|
Term
| intramembranous bone formation |
|
Definition
| formation of bone without a preexisting cartilage matrix; flat bones develop |
|
|
Term
| collagen with osteogenesis imperfecta |
|
Definition
|
|
Term
| clinical features of osteogenesis imperfecta |
|
Definition
| multiple fractures of bones, blue sclera and hearing loss (middl ear bones fracture) |
|
|
Term
| mechanism of osteopetrosis |
|
Definition
| poor osteoclast function resulting in abnormally thick, heavy bone that fractures easily |
|
|
Term
| clinical features of osteopetrosis |
|
Definition
| bone fractures, anemia, thrombocytopenia and leukopenia, vision and hearing impairment, hydrocephalus, RTA |
|
|
Term
| mechanism of hydrocephalus in osteopetrosis |
|
Definition
| narrowing of foramen magnum |
|
|
Term
| mechanism of renal tubular acidosis in osteopetrosis |
|
Definition
| lack of CA leads to decreased tubular reabsorption of HCO2 leading to metabolic acidosis |
|
|
Term
|
Definition
| 25-oh in liver followed by 1-alpha-OH in kidney |
|
|
Term
|
Definition
intestine= increase absorption of Ca and Phos
kidney = increases reabsorption of Ca and phis
bone = inc resoption of calcium and phosphate |
|
|
Term
|
Definition
| pigeon breast deformity, frontal bossing, rachitic rosary, bowing of legs |
|
|
Term
| lab findings of osteomalacia |
|
Definition
dec Ca and phos
Inc PTH and inc Alk phos |
|
|
Term
| what determines peak bone mass |
|
Definition
| genetics, diet and exercise |
|
|
Term
|
Definition
| senile and postmenopausal |
|
|
Term
| clinical features of osteoporosis |
|
Definition
| bone pain and fractures in weight bearing areas such as vertebrae, hip and sitar radius |
|
|
Term
|
Definition
| all normal; help exclude osteomalacia |
|
|
Term
| treatment of osteoporosis |
|
Definition
| exercise, vit D and Ca; bsophosphonates, estrogen replacement therapy debated |
|
|
Term
|
Definition
| imbalance between osteoclast and osteoblast function |
|
|
Term
|
Definition
| 1) osteoclastic 2) mixed osteoblastic-osteoclastic and 3) osteoblastic |
|
|
Term
|
Definition
| mosaic pattern of lamellar bone |
|
|
Term
| clinical features of pagets |
|
Definition
| bone pain, increasing hat size, hearing loss, lion like facies |
|
|
Term
|
Definition
| isolated elevated all phis |
|
|
Term
|
Definition
calcitonin (inhibits osteoclast function)
bisophosphonates (induced apoptosis of osteoclasts) |
|
|
Term
|
Definition
| high output cardiac failure due to formation of AV shunts in bone; osteosarcoma |
|
|
Term
| seeding of metaphysics vs epiphysis with osteomelitis |
|
Definition
transient bacteremia (child) = metaphysics
open wound bacteremia (adult) = epiphysis |
|
|
Term
Osteomyelitis
- most common
- sexually active young addle
- salmonella
- DM or IV drug user
- cat or dog nine
- vertebrae |
|
Definition
- S aureus
- N gonorrhea
- salmonella
- pseudomonas
- pasteurella
- TB |
|
|
Term
|
Definition
| lytic focus = sequestrum (abscess) surrounded by sclerosis = involucrum |
|
|
Term
| causes of avascular necrosis |
|
Definition
| trauma or fractures, steroids, sickle cell anemia and caisson disease |
|
|
Term
| associated with gardner syndrome |
|
Definition
|
|
Term
|
Definition
|
|
Term
| location of osteoid osteoma |
|
Definition
|
|
Term
| osteoid osteoma vs osteoblastoma |
|
Definition
| osteosarcoma = larger (>2 cm), from vertebra and does not respond to ASA |
|
|
Term
| most common benign tumor of bone |
|
Definition
|
|
Term
|
Definition
|
|
Term
| risk factors for osteosarcoma |
|
Definition
| familial retinoblastoma, Pagets and radiation exposure |
|
|
Term
|
Definition
| distal femur or proximal tibia (region of knee) |
|
|
Term
| presents as pathologic fracture or bone with swelling |
|
Definition
|
|
Term
|
Definition
| sunburst appearance and lifting of the periosteum (cowman triangle) |
|
|
Term
|
Definition
|
|
Term
| location of giant cell tumor |
|
Definition
| arises in epiphysis of long bones, usually the distal femur or proximal tibia |
|
|
Term
|
Definition
| diaphysis of long bones; male children |
|
|
Term
|
Definition
|
|
Term
|
Definition
| small round blue cells that resemble lymphocytes |
|
|
Term
|
Definition
|
|
Term
|
Definition
| medulla of small bones of hands and feet |
|
|
Term
| location of chondrosarcoma |
|
Definition
| medulla of pelvis or central skeleton |
|
|
Term
| metastasis to bones is from? |
|
Definition
|
|
Term
| collagen in hyaline cartilage |
|
Definition
|
|
Term
|
Definition
| wear and tear; age, obesity and trauma |
|
|
Term
|
Definition
| hips, lower lumbar spine, knees, and DIP and PIP of fingers |
|
|
Term
|
Definition
| joint stiffness in morning that worsens during the day |
|
|
Term
| pathologic features of OA |
|
Definition
| disruption of cartilage that lines articular surface; joint mice; eburnation of subchondral bone; osteophyte formation |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| arthritis in morning that improves with activity; fever, malaise, weight loss and myalgiase, rheumatoid nodules, vasulitis, baker cyst, pleural effusions, LAD and interstitial lung fibrosis |
|
|
Term
| hand deformities in arthritis |
|
Definition
| swan neck deformity, ulnar deviation |
|
|
Term
|
Definition
| IgM Ab against Fc portion of IgG; neutrophils and high protein in synovial fluid |
|
|
Term
| HLA with seronegative spondyloarthropathies |
|
Definition
|
|
Term
| ankylosing spondyloarthritis joints |
|
Definition
|
|
Term
|
Definition
| ankylosing spondylarthritis |
|
|
Term
| extra articular manifestations of ankylosing spondylarthritis |
|
Definition
|
|
Term
|
Definition
| arthritis, urethritis and conjunctivitis |
|
|
Term
| joints in psoriatic arthitis |
|
Definition
| axial and peripheral joints; DIP of hands and feet most common = "sausage" fibers or toes |
|
|
Term
| causes of infectious arthritis |
|
Definition
N gonorrhea = young adults
S aureus = older children and adults |
|
|
Term
| symptoms of infectious arthritis |
|
Definition
| single joint, usually the knee; fever, inc WBC, and elevated ESR |
|
|
Term
|
Definition
| monosodium urate; negative birefringent |
|
|
Term
|
Definition
| leukemia and myeloproliferative disroders (inc turnover) lesch nyhan syndrome (HGPRT) and renal insufficiency |
|
|
Term
| complications of chronic gout |
|
Definition
| development of tophi and renal failure (irate nephropathy) |
|
|
Term
|
Definition
| calcium pyrophosphate dihydrate; rhomboid shpated, positive birefringence |
|
|
Term
| clinical features of dermatomyositis |
|
Definition
| BL prox muscle weakness, rash of upper eyelids, malar rash |
|
|
Term
|
Definition
| red papules on elbows, knuckles and knees seen in dermatomositis |
|
|
Term
|
Definition
| inc CK, positive ANA and anti-jo1; perimysial inflammation with perifascicular atrophy |
|
|
Term
|
Definition
| endomysial inflammation with necrotic mm fibers |
|
|
Term
| mutation in X-linked muscular dystrophy |
|
Definition
| dystrophin= important in anchoring the mm cytoskeleton to the ECM; often spontaneous |
|
|
Term
|
Definition
| X linked muscular dystrophy |
|
|
Term
|
Definition
| cardiac or respiratory failure |
|
|
Term
| Becker muscular dystrophy |
|
Definition
| mutated dystrophin vs duchenne= deleted dystrophin |
|
|
Term
| defect in myasthenia gravis |
|
Definition
| Ab against the postsynaptic Ach receptor at the NMJ; women |
|
|
Term
| clinical features of muscular dystrophy |
|
Definition
| mm weaken worsens with use; eyes = ptsosis and diplopia; improve with AchE inhibitors |
|
|
Term
|
Definition
|
|
Term
|
Definition
| ab to Ca channels at NMJ; with small cell lung cancer |
|
|
Term
| clinical features of lambert-eaton syndrome |
|
Definition
| proximal mm weakness that improves with use; AchE agents do not improve symptoms |
|
|
Term
|
Definition
| benign tumor of adipose tissue; most common benign soft tissue tumor |
|
|
Term
| most common malignant soft tissue tumor in adults |
|
Definition
|
|
Term
| most common malignant soft tissue tumor in children |
|
Definition
|
|
Term
|
Definition
| head and neck; vagina classic site in young girls |
|
|
