MSS-Week 1 Flashcards

Question

Osteogenesis Imperfecta

Answer 1

Mutations in Tyle I collagens thin, bowed bones, fragile abnormal bleeding, blue sclera

Answer 2

Collagen IV mutation (basement membrane) | Renal damage, hematuria, hearing/ocular deficits

Answer 3

Deficiency of Vit C easy bruising and bleeding, corkscrew hair Decreased hydroxylation of collagen by lysyl and prolyl hydroxylases

Answer 4

Uric acid crystal buildup in joints->inflammation (IL1-B pathway/inflammasome Hyperuricemia, usually via underexcretion (kidneys) linked somewhat to BMI too increased risk post-menopause can be caused/worsened by metabolic syndrome, renal disease, drugs, EtOH, diet, etc MCU crystal birefringence

Answer 5

Calcium pyrophosphate dihydrate crystal deposition similar to gout, related to overproduction of PPi may be found with CPPD and urate crystals mixed

Answer 6

Attacks of acute arthritis, usually in larger joints Dx: rhomboidal shaped, birefringent crystals May see chondrocalcinosis on XRay

Answer 7

``` T-cell autoimmune, with B-cell contribution genetic predisposition (HLA-DR) Hormonal contribution (F>M) Proliferation of synovium (synovitis), with characteristics of benign tumor Invasion of joint with neutrophils, other immune cells Rheumatoid factor= IgM anti-Fc of IgG antibody CCP= anti-cyclic citrullinated peptide= correlates with disease activity AM stiffness, swollen joints (usually small), rheumatoid nodules Associated with periodontitis (PAD) Also have Sjogren's (dry eyes/mouth), higher CV risk (vasculitis, atherosclerosis), pulm and GI (nodules) and neuro effects ```

Answer 8

``` Degenerative joint disease Chrondrocytes in articular cartilage respond to biologic stresses in a way that breaks down matrix (imbalance) hands, hips (men), knees, spine usually Heberden nodes= DIP,, Bouchard's= PIP Small fractures-> joint mice, rice bodies fracture gaps fill w synovial fluid-> subchondral cysts Mushroom shaped bony outgrowths= osteophytes at margin of articular surface Inflammation of synovium membrane,, thickened joint capsule Joint deformity (NOT fusion like RA) can occur ```

Answer 9

Relatively rare, potentially curable nonspecific symptoms, pain and mass, pathologic fracture Child: osteosarcoma, Ewing's sarcoma young adult: Giant cell tumor Old: Chrondrosarcoma Epiphysis: giant cell tumor, chrondroblastoma Metaphysis: osteosarcoma, osteochrondroma, chondromyxoid fibroma, osteoid osteoma Diaphysis: Ewing's sarcoma, Enchrondroma, Chrondrosarcoma, fibrous cortical defect Sclerotic margin= good, benign Solid/ivory-like= osteosarcomas Rings and arcs= chondrosarcomas

Answer 10

benign bone-forming tumor long bones <2cm night pain, responds to aspirin

Answer 11

benign bone-forming tumor vertebrae or metaphysis >2cm painful, non-responsive to aspirin

Answer 12

``` Malignant tumor produces osteoid or bone, infiltrates into soft-tissue most common sarcoma of bone bimodal ages= 10-20yo or 55-80 metaphysis of long bones hematogenous spread to lungs Mutated RB gene, or p53, MDM2, or Paget dz Has codman's triangle Tx: neo-adjuvant chemo + surgery ```

Answer 13

Common benign tumor of bone metaphysis of long bones Autosomal dom mutation in EXT-1 Buds off a little growth from growth plate

Answer 14

``` Benign hyaline cartilage lesion intramedullary chondroma usually asymptomatic small bones of hands and feet Tx: none unless changes ```

Answer 15

Mutations in IDH1 or IDH2 Ollier's disease: multiple enchondromata Maffucci's syndrome: multiple enchondromata+angiomata, severe skeletal malformation

Answer 16

Malignant tumor which produces ONLY cartilage second most common bone sarcoma usually older adults central skeleton, pelvis and ribs medullary location, cortical erosion popcorn-like appearance, more cellular than enchondroma

Answer 17

Most common space-occupying lesion of bone (1 in 4) metaphysis lytic, starry night appearance

Answer 18

Developmental arrest of bone circumscribed, ground-glass appearance,, randomly oriented woven bone trabeculae Monostotic: common, adolescents, ribs, mandible, femur Polyostotic: infancy, crippling deformities, craniofacial McCune-Albright syndrome: polyostotic FD with endocrinopathies and cafe-au-lait spots

Answer 19

Second most common malignant bone tumor of childhood/adolescents painful, enlarging mass Diaphysis of long bones Destructive moth-eaten, permeative medullary lesion,, onion-skin periosteal rxn Sheets of small round blue cells,, CD99, glycogen hemorrhage and necrosis EWS, t(11;22)

Answer 20

young adults, epiphysis, knee | benign, locally aggressive

Answer 21

20x more common than primary bone tumors usually axial skeleton, lytic 80% from breat, lung, thyroid, prostate, kidney (BLT-KP)

Answer 22

Bone infection Hematogenous: from bacteremia (more common in kids) Direct implantation: injury, P. aeruginosa Contiguous: direct from wound or ulcer Infxn of prosthetic device Staph aureus is common, also gram negs Sequestrum= pieces of dead bone Involucrum= new external bone formation Brodie's abcesses= localized abcesses Cultures of open ulcers are notoriously unreliable Tx: long course (6-weeks IV)+ antibiotics Rifampin is good for biofilms

Answer 23

Most common bone disease Ca and Vit D are important So are PTH and estrogens Excessive degradation by osteoclasts relative to osteoblasts Dx: DEXA scan (t-score= young healthy,, z-score= age matched controls) Also FRAX= fracture risk assessment tool Osteoporosis= 2.5 or more SD below peak bone mass Osteopenia= 1-2.5 SD below WHO criteria only apply to caucasian postmenopausal women

Answer 24

dietary , lack of sunlight, or metabolic enzyme probs children: Rickets Mild: osteoporosis severe: osteomalcia

Answer 25

Disordered eating, amenorrhea, osteoporosis

Answer 26

women >65yo, men >70yo younger 50-69yo if clinical risk factors for fracture adults with condition or medications associated with low bone mass or bone loss repeat every 2 years post fracture

MSS-Week 1 Flashcards

(50 cards)