MSK Flashcards
(122 cards)
1
Q
Activating mutation in FGFR3 (fibroblast growth factor)
A
Achondroplasia –> this activating mutation INHIBITS growth = impaired cartilage proliferation (chondrocrytes at growth plate) = short extermities with normal head/chest
2
Q
inherited defect of bone resporption
A
Osteopetrosis –> abnomally thick, heavy bone that fractures easily
3
Q
Carbonic anhydrase mutation leading to bone condition
A
Osteopetrosis. Lose the acidic environment needed for bone resorption.
4
Q
Thick bone compressing cranial nerves
A
Vision and hearing loss in Osteopetrosis
5
Q
Tx for Osteopetrosis
A
bone marrow transplant –> normal monocytes = ability to make normal osteoclasts
6
Q
Cell with poor function in Osteopetrosis
A
osteoclast (can’t resorb the bone)
7
Q
Defective mineralization of osteoid
A
rickets/osteomalacia –> low vit D. Osteoid (put down by osteoblasts) is normally mineralized with calcium and phosphate = bone
8
Q
Frontal bossing (osteoid deposition), rachitic rosary (feel osteoid @costochondral j(x)), bowing of legs, Pigeon-breast deformity (ribs bend in, sternum protrudes anteriorly)
A
Osteomalacia/rickets = defective mineralization of osteoid
9
Q
low calcium, low phosphate, increased PTH, increased Alkaline phophatase
A
osteomalacia (low vit D in adults). decreased vit D–>decreased Ca–> increased PTH–> decreased PO4.
Increased ALP because get hyperactivity of osteoblasts.
10
Q
reduction in trabecular bone mass (porous bone)
A
Osteoporosis
11
Q
lab values in osteoporosis
A
normal calcium, phosphate, PTH, and ALP –> NO ABNORMAL LABS IN OSTEOPOROSIS
12
Q
pharm induction of osteoclast apoptosis
A
Bisphosphonates…tx osteoporosis
13
Q
Imbalance btwn osteoclast and osteoblast
A
Paget
14
Q
isolated elevated ALP
A
Paget
15
Q
increased hat size
A
Paget
16
Q
Hematological implications of osteopetrosis
A
Bony replacement of marrow (myelothisic) = pancytopenia!! + extra medullary hematopoeisis
17
Q
thick sclerotic bone that fractures easily
A
Paget (prob applies to Osteopetrosis also)
18
Q
lytic focus (abscess) surrounded by sclerosis of bone on xray
A
Osteomyelitis
19
Q
multiple colon polyps + osteoma
A
FAP + benign bone tumor = Gardners
20
Q
most common benign bone tumor
A
osteochondroma (male
21
Q
bone tumor with bimodal distribution
A
Osteosarcoma: teenagers (familial retinoblastoma) and elderly (Paget dx and radiation)
22
Q
malignant bone tumor in the knee region vs benign tumor in knee region
A
Osteosarcoma (malignant; metaphysis) vs Giant cell tumor (benigng; epiphysis)
23
Q
Codman triangle and mass with sunburst appearance
A
osteosarcoma
24
Q
pleomorphic osteoid producing cells
A
Osteosarcoma (malignant prolif of osteoblasts)
25
only bone tumor in the epiphysis
Giant cell tumor
26
Bone tumor with "soap bubble" appearance
Giant cell tumor
27
Neuroectoderm derived bone tumor
Ewings sarcoma
28
Malignant bone tumor in diaphysis in male boys
Ewing sarcoma. 11,22 translocation
29
metastatic bone tumor lesions
generally osteolytic (punched out). exception = prostatic carcinoma = osteoblastic = sclerosis.
30
cartilage w/in a joint capsule
Articular cartilage = hyaline
31
fluid in joint capsule
synovial lining secretes fluid rich in Hyaluronic acid
32
morning stiffness that gets worse throughout the day
osteoarthritis
33
bone pain that resolves with aspirin
Osteoid osteoma (
34
What's the voltage-sensor coupled to RyR on the SR
Dyihropyridine receptor (v-gated Ca sensor)
35
Release of ADP and inorganic P04 from myosin:
power stroke (displacement of myosin on the actin filament)
36
relationship of tropomyosin, actin, myosin, troponin, Ca
Tropomyosin covers the myosin binding site on actin. Ca binds to troponin which moves the tropomyosin.
37
Change in bands during contraction
A is Always the same...doesnt change
| H and I are shortened, and Z lines move toward each other
38
bands of sarcomere
A: thick filament
H band: area of thick filament with no overlap from thin
I band: area of thin filament wit no overlap from thick
Z-Z: sarcomere
39
muscle fibers that are hypertrophied in weight training
Type 2: fast twitch/white fibers..increased anaerboic metab in these. (vs type 1 = slow twitch and red).
40
NO mediated smooth m relaxation
NO + on GC = increased cGMP, which + on Myosin Light Chain Phosphatase = dephophorylate Myosin = relaxation
41
Chondrocytes lay cartilaginous model of bone --> osteclasts/blasts replace with woven--> remodel to lamellar
Endochondral ossification. Bones of axial and appendicular skeleton
42
Woven bone formed directly without cartilage
membraneous ossification: bones of calvarium and face.
43
Woven bone seen in adult
after fractures and Paget's disease
44
Osteoclasts
Multinucleated cells that dissolve bone
45
low vs high levels of PTH
low levels: build bone (anabolic)
| chronically increased PTH i.e. hyperparathyroid: catabolic (osteitis fibrosa cystica)
46
Estrogen role in bone cells
inhibits apoptosis in osteoblasts; induces apoptosis in osteoclasts
deficiency can lead to osteoporosis
47
Osteoblast markers
bone-specific Alkaline Phosphatase (ALP)
48
osteoclast markers
TRAP and urinary deoxypyridinoline
49
what is calcitonin a marker for?
Medullary Thyroid Cancer!!!!! NOT A MARKER OF OSTEOCLASTS or osteoblasts
50
which cell has RANK-L on it?
osteoblast
51
What does OPG bind?
RANK-L on osteoblast
52
osteoblasts become osteocytes and connected to each other via ____
gap j(x)
53
failure of endochondral ossification
Achondroplasia
54
what is the A in Achondroplasia going to remind me of?
A-ctivating mutation of FGF that inhibits chondrocyte proliferation
55
Inhibited chondrocyte proliferation
Achondroplasia. Short limbs
56
Why is head large in achondroplasia?
membraneous ossification is straight
57
most common cause of dwarfism?
achondroplasia
58
What happenes when RANKL of osteoblast binds with NFKB containing cell expressing RANK-R
Osteoclast formation
59
changes in post menopausal women leading to type 1 osteoporosis
Decreased estrogen = increased RANK/RANKL = increased osteoclast.
60
Osteoporosis
Type 1: Postmenopausal
Type 2: Senile (men and women over 70)--> Prophylaxis = regular weight-bearing activity and Ca/vitD intake throughout life.
61
Tx for Type 2 (senile) osteoporosis
Denosumab (MAB against RANKL on osteblast), Bisphosphonates, SERM, PTH analog
62
Defective osteoclasts
Osteopetrosis
63
Pancytopenia, extramedullary hematopoeisis in pt with thick bone prone to fracture
Osteopetrosis: bone fills the medullary space
64
Carbonic anhydrase mutation impairs _____ to generate acidic environment for ______, leading to _____
osteoclast; resorption; Osteopetrosis
65
tx for osteopetrosis
Bone Marrow Transplant--> bring in fresh osteoclasts
66
Problem in Osteomalacia/rickets
Failure to mineralize osteoid with Ca/PO4. Hyperactivity of osteoblasts = INCREASED ALP
67
long bone chalk-stick fractures
Paget
68
high output failure due to increases AV shunts
Paget
69
increased hat size. hearing loss due to foraman narrowing
Paget
70
isolated ALP increase
Paget
71
common side of avascular necrosis (osteonecrosis)
femoral head --> MEDIAL CIRCUMFLEX ARTERY
72
Increased Ca, Increased PO4, normal ALP, decreased PTH
hypervitamin D: supplement or granulomatous disease i.e. sarocid
73
osteitis fibrosa cystica
hyperparathyroidism: brown tumors due to fibrous replacement of bone; subperiosteal thinning (pth osteoclast action specific to cortical bone)
74
Rheumatoid factor
anti-IgG ab
75
anti-citrullinated peptide
more specific for RA than anti-IgG rheumatoid factor
76
HLA-DR4
ass. with RA
77
are systemic symptoms seen with RA
Yup. fever, fatigue, pleuritis, pericarditis, weigth loss
78
DMARDS used for RA
methotrexate, sulfasalazine. These take weeks to work, so we use NSAIDS and Glucocorticoids as immediate relief
79
rapid relief of RA
Glucocorticoids/nsaids
80
joint findings in Osteoarthritis
Subchondral cysts, sclerosis, osteophytes, ebrunation (polished ivory like bone), Heberden (DIP) and bouchard( PIP) nodes. NO MCP
81
joint findings in RA
pannus in MCP and PIP joints, fibrinoid necrosis (nodules), ulnar deviation of fingers, subluxation (areflexia), DIP is rare
82
antinuclear antibody
Sjogren. SS-A and SS-B
83
bilateral parotid enlargement
Sjogren
84
Gout: males or females?
Males
85
Pseudogout: males or females?
Equal
86
needle shaped and neg birefringent crystals
gout
87
painful MTP joint of big toe
Podagra --> Gout
88
Tophous formation (ear, elbow, achilles)
gout
89
large meal or alcohol consumption triggering acute attack
gout (vs hypertensive crisis after tyramine foods indicative of MAO-I toxicity)...competes for sites normally used for uric acid excretion
90
Gout tx
Acute: nsaid (indomethacin), glucocorticoid, colchicine (inhibit MT proliferation)
Chronic (prophylaxis): XO inhibitors = allopurinol, febuxostat
91
wbc count in gout/pseudogout vs septic arthritis
G/PG: 5-50,000
| Septic Arthritis: >50,000
92
deposition of what in pseudogout?
Calcium Pyrophosphate crystals in joint space
93
rhomboid crystals weakly birefringent
pseudogout
94
tx for pseudogout
Acute: nsaids
prophylaxis: glucocorticoids, colchicine
95
common organisms for septic arthritis
Staph, strep, neisseria gonorrhoaea
96
sudden onset of pain, redness, swelling, and decreased range of motion joint
septic arthritis
97
Arthritis with Rheumatoid factor and HLA-DR4
RA
98
Arthritis without RF; HLA-B27 association (MHC I)
Seronegative Spondyloarthropathies (also ANA negative)
99
Seronegative Sponyloarthropathies: name the 4. Male or female?
all more common in males.
PAIR =
Psoriac arthritis,
Ankylosing spondylitis,
Inflammatory bowel disease (crohns and UC),
Reactive arthritis (aka reaiter...cant see, cant pee, cant bend my knee)
100
history of thrombosis or spontaneous abortion + lupus anticoagulant, anticardiolipin, anti-b2 glycoprotein
Antiphospholipid syndrom
101
False positive VDRL and prolonged PTT
Anticardiolipin Ab and lupus anticoagulant (antiphospholipid syndrome/SLE)
102
Young women with glomerunephritis, photosensitivity, +RPR/VDRL but -treponema. At risk for what? which heme measure elevated?
This is antiphopholipid syndrome in SLE pt. elevated PTT and at risk for miscarriage (spontaneous abortion).
103
Female of reproductive age, african american, joint pain
SLE
104
SLE cardiac manifestation
Libman-Sacks endocarditis: nonbacterial, wart like valvular vegetations
105
SLE renal manifestation
Nephritic: Diffuse proliferative glomerulonephritis (subendothelial IgG immune complexes with c3. granular IF)
Nephrotic: Membraneous Glomerulonephritis
106
Elevated CD4/CD8 ratio + noncaseating granuloma and bilateral adenopathy
Sarcoidosis (note: similar presentation but increased CD8 is called hypersensitivity pneumonitis-->farmers/bird handlers with type 3/4 rxn to environmental antigen)
107
Associations with SLE (6)
```
Restrictive lung fibrosis
Erythema nodosum (painful shin nodule)
Uveitis
Hypercalcemia
Bell Palsy
Epithelioid Granuloma
```
108
Hypercalcemia in sarcoidosis
increase 1-alpha-hydroxylase-mediated vitD activation in MACROphage
109
Painful syndrome associated with temporal(giant cell) arteritis
Polymyalgia rheumatic
110
Define polymyalgia rheumatica
Pain/stiffness in SHOULDS AND HIPS (pelvic girdle). Women >50 and ass. with Temporal arteritis. Responds to corticosteroids.
111
Lab findings in polymyalgia rheumatica
Increased ESR and CRP, normal Creatine kinase. (note: these labs are seen in osteomyelitis as well)
112
Female 20-50 with pain
Fibromyalgia. Fibromyalgia is in girls that still Fuck
113
Female >50 with pain
Polymyalgia rheumatica
114
Chronic, wisespread musculoskeletal pain. Ass. with stiffness, paresthesia, poor sleep and concentration, fatigue
Fibromyalgia
115
Tx for Fibromyalgia
Regular exercise --> will have pain initially and exacerbated sx so don't be a peasant, even if they say her pain is worse with exercise its still fibromyalgia.
Antidepressants (TCA, SNRI), and Anticonvulsant.
116
chronic inflam disease of Spine and Sacroiliac joints
ankylosing spondylitis
117
stiff spine due to fusion of joints
ankylosis (ankylosing spondy). Baboo spine --> fusion of vertebrae
118
ankylosis (stiff spine from joint fusion), uveitis, aortic regurg
ankylosing spondylitis
119
morning stiffness, low back pain in a man
ankylosing spondylitis
120
bugs implicated in Reactive arthritis (reiters)
Chlamydia + GI (salmonella, shigella, campylobacter, yersinia)
121
What kind of mutation/inheritance is Duchenne and Becker and Myotonic Dystrophy?
Duchenne: Frameshift (insertion/deletion/duplication). X
Becker: Nonframeshift insertions. X
Myotonic Dystrophy: Trinucleotide repeat.
122
Cataracts, Testicular atrophy, frontal balding, arrythmia, myotonia, muscle wasting
Myotonic Dystrophy
My Tonia, My Testicles, My Toupee, My Ticker, My Cat
