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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

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2
Q

inherited defect of bone resporption

A

Osteopetrosis –> abnomally thick, heavy bone that fractures easily

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3
Q

Carbonic anhydrase mutation leading to bone condition

A

Osteopetrosis. Lose the acidic environment needed for bone resorption.

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4
Q

Thick bone compressing cranial nerves

A

Vision and hearing loss in Osteopetrosis

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5
Q

Tx for Osteopetrosis

A

bone marrow transplant –> normal monocytes = ability to make normal osteoclasts

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6
Q

Cell with poor function in Osteopetrosis

A

osteoclast (can’t resorb the bone)

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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

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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

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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.

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10
Q

reduction in trabecular bone mass (porous bone)

A

Osteoporosis

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11
Q

lab values in osteoporosis

A

normal calcium, phosphate, PTH, and ALP –> NO ABNORMAL LABS IN OSTEOPOROSIS

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12
Q

pharm induction of osteoclast apoptosis

A

Bisphosphonates…tx osteoporosis

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13
Q

Imbalance btwn osteoclast and osteoblast

A

Paget

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14
Q

isolated elevated ALP

A

Paget

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15
Q

increased hat size

A

Paget

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16
Q

Hematological implications of osteopetrosis

A

Bony replacement of marrow (myelothisic) = pancytopenia!! + extra medullary hematopoeisis

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17
Q

thick sclerotic bone that fractures easily

A

Paget (prob applies to Osteopetrosis also)

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18
Q

lytic focus (abscess) surrounded by sclerosis of bone on xray

A

Osteomyelitis

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19
Q

multiple colon polyps + osteoma

A

FAP + benign bone tumor = Gardners

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20
Q

most common benign bone tumor

A

osteochondroma (male

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21
Q

bone tumor with bimodal distribution

A

Osteosarcoma: teenagers (familial retinoblastoma) and elderly (Paget dx and radiation)

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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)

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23
Q

Codman triangle and mass with sunburst appearance

A

osteosarcoma

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24
Q

pleomorphic osteoid producing cells

A

Osteosarcoma (malignant prolif of osteoblasts)

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25
Q

only bone tumor in the epiphysis

A

Giant cell tumor

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26
Q

Bone tumor with “soap bubble” appearance

A

Giant cell tumor

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27
Q

Neuroectoderm derived bone tumor

A

Ewings sarcoma

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28
Q

Malignant bone tumor in diaphysis in male boys

A

Ewing sarcoma. 11,22 translocation

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29
Q

metastatic bone tumor lesions

A

generally osteolytic (punched out). exception = prostatic carcinoma = osteoblastic = sclerosis.

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30
Q

cartilage w/in a joint capsule

A

Articular cartilage = hyaline

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31
Q

fluid in joint capsule

A

synovial lining secretes fluid rich in Hyaluronic acid

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32
Q

morning stiffness that gets worse throughout the day

A

osteoarthritis

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33
Q

bone pain that resolves with aspirin

A

Osteoid osteoma (

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34
Q

What’s the voltage-sensor coupled to RyR on the SR

A

Dyihropyridine receptor (v-gated Ca sensor)

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35
Q

Release of ADP and inorganic P04 from myosin:

A

power stroke (displacement of myosin on the actin filament)

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36
Q

relationship of tropomyosin, actin, myosin, troponin, Ca

A

Tropomyosin covers the myosin binding site on actin. Ca binds to troponin which moves the tropomyosin.

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37
Q

Change in bands during contraction

A

A is Always the same…doesnt change

H and I are shortened, and Z lines move toward each other

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38
Q

bands of sarcomere

A

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

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39
Q

muscle fibers that are hypertrophied in weight training

A

Type 2: fast twitch/white fibers..increased anaerboic metab in these. (vs type 1 = slow twitch and red).

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40
Q

NO mediated smooth m relaxation

A

NO + on GC = increased cGMP, which + on Myosin Light Chain Phosphatase = dephophorylate Myosin = relaxation

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41
Q

Chondrocytes lay cartilaginous model of bone –> osteclasts/blasts replace with woven–> remodel to lamellar

A

Endochondral ossification. Bones of axial and appendicular skeleton

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42
Q

Woven bone formed directly without cartilage

A

membraneous ossification: bones of calvarium and face.

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43
Q

Woven bone seen in adult

A

after fractures and Paget’s disease

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44
Q

Osteoclasts

A

Multinucleated cells that dissolve bone

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45
Q

low vs high levels of PTH

A

low levels: build bone (anabolic)

chronically increased PTH i.e. hyperparathyroid: catabolic (osteitis fibrosa cystica)

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46
Q

Estrogen role in bone cells

A

inhibits apoptosis in osteoblasts; induces apoptosis in osteoclasts

deficiency can lead to osteoporosis

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47
Q

Osteoblast markers

A

bone-specific Alkaline Phosphatase (ALP)

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48
Q

osteoclast markers

A

TRAP and urinary deoxypyridinoline

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49
Q

what is calcitonin a marker for?

A

Medullary Thyroid Cancer!!!!! NOT A MARKER OF OSTEOCLASTS or osteoblasts

50
Q

which cell has RANK-L on it?

A

osteoblast

51
Q

What does OPG bind?

A

RANK-L on osteoblast

52
Q

osteoblasts become osteocytes and connected to each other via ____

53
Q

failure of endochondral ossification

A

Achondroplasia

54
Q

what is the A in Achondroplasia going to remind me of?

A

A-ctivating mutation of FGF that inhibits chondrocyte proliferation

55
Q

Inhibited chondrocyte proliferation

A

Achondroplasia. Short limbs

56
Q

Why is head large in achondroplasia?

A

membraneous ossification is straight

57
Q

most common cause of dwarfism?

A

achondroplasia

58
Q

What happenes when RANKL of osteoblast binds with NFKB containing cell expressing RANK-R

A

Osteoclast formation

59
Q

changes in post menopausal women leading to type 1 osteoporosis

A

Decreased estrogen = increased RANK/RANKL = increased osteoclast.

60
Q

Osteoporosis

A

Type 1: Postmenopausal
Type 2: Senile (men and women over 70)–> Prophylaxis = regular weight-bearing activity and Ca/vitD intake throughout life.

61
Q

Tx for Type 2 (senile) osteoporosis

A

Denosumab (MAB against RANKL on osteblast), Bisphosphonates, SERM, PTH analog

62
Q

Defective osteoclasts

A

Osteopetrosis

63
Q

Pancytopenia, extramedullary hematopoeisis in pt with thick bone prone to fracture

A

Osteopetrosis: bone fills the medullary space

64
Q

Carbonic anhydrase mutation impairs _____ to generate acidic environment for ______, leading to _____

A

osteoclast; resorption; Osteopetrosis

65
Q

tx for osteopetrosis

A

Bone Marrow Transplant–> bring in fresh osteoclasts

66
Q

Problem in Osteomalacia/rickets

A

Failure to mineralize osteoid with Ca/PO4. Hyperactivity of osteoblasts = INCREASED ALP

67
Q

long bone chalk-stick fractures

68
Q

high output failure due to increases AV shunts

69
Q

increased hat size. hearing loss due to foraman narrowing

70
Q

isolated ALP increase

71
Q

common side of avascular necrosis (osteonecrosis)

A

femoral head –> MEDIAL CIRCUMFLEX ARTERY

72
Q

Increased Ca, Increased PO4, normal ALP, decreased PTH

A

hypervitamin D: supplement or granulomatous disease i.e. sarocid

73
Q

osteitis fibrosa cystica

A

hyperparathyroidism: brown tumors due to fibrous replacement of bone; subperiosteal thinning (pth osteoclast action specific to cortical bone)

74
Q

Rheumatoid factor

A

anti-IgG ab

75
Q

anti-citrullinated peptide

A

more specific for RA than anti-IgG rheumatoid factor

76
Q

HLA-DR4

A

ass. with RA

77
Q

are systemic symptoms seen with RA

A

Yup. fever, fatigue, pleuritis, pericarditis, weigth loss

78
Q

DMARDS used for RA

A

methotrexate, sulfasalazine. These take weeks to work, so we use NSAIDS and Glucocorticoids as immediate relief

79
Q

rapid relief of RA

A

Glucocorticoids/nsaids

80
Q

joint findings in Osteoarthritis

A

Subchondral cysts, sclerosis, osteophytes, ebrunation (polished ivory like bone), Heberden (DIP) and bouchard( PIP) nodes. NO MCP

81
Q

joint findings in RA

A

pannus in MCP and PIP joints, fibrinoid necrosis (nodules), ulnar deviation of fingers, subluxation (areflexia), DIP is rare

82
Q

antinuclear antibody

A

Sjogren. SS-A and SS-B

83
Q

bilateral parotid enlargement

84
Q

Gout: males or females?

85
Q

Pseudogout: males or females?

86
Q

needle shaped and neg birefringent crystals

87
Q

painful MTP joint of big toe

A

Podagra –> Gout

88
Q

Tophous formation (ear, elbow, achilles)

89
Q

large meal or alcohol consumption triggering acute attack

A

gout (vs hypertensive crisis after tyramine foods indicative of MAO-I toxicity)…competes for sites normally used for uric acid excretion

90
Q

Gout tx

A

Acute: nsaid (indomethacin), glucocorticoid, colchicine (inhibit MT proliferation)

Chronic (prophylaxis): XO inhibitors = allopurinol, febuxostat

91
Q

wbc count in gout/pseudogout vs septic arthritis

A

G/PG: 5-50,000

Septic Arthritis: >50,000

92
Q

deposition of what in pseudogout?

A

Calcium Pyrophosphate crystals in joint space

93
Q

rhomboid crystals weakly birefringent

A

pseudogout

94
Q

tx for pseudogout

A

Acute: nsaids
prophylaxis: glucocorticoids, colchicine

95
Q

common organisms for septic arthritis

A

Staph, strep, neisseria gonorrhoaea

96
Q

sudden onset of pain, redness, swelling, and decreased range of motion joint

A

septic arthritis

97
Q

Arthritis with Rheumatoid factor and HLA-DR4

98
Q

Arthritis without RF; HLA-B27 association (MHC I)

A

Seronegative Spondyloarthropathies (also ANA negative)

99
Q

Seronegative Sponyloarthropathies: name the 4. Male or female?

A

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
Q

history of thrombosis or spontaneous abortion + lupus anticoagulant, anticardiolipin, anti-b2 glycoprotein

A

Antiphospholipid syndrom

101
Q

False positive VDRL and prolonged PTT

A

Anticardiolipin Ab and lupus anticoagulant (antiphospholipid syndrome/SLE)

102
Q

Young women with glomerunephritis, photosensitivity, +RPR/VDRL but -treponema. At risk for what? which heme measure elevated?

A

This is antiphopholipid syndrome in SLE pt. elevated PTT and at risk for miscarriage (spontaneous abortion).

103
Q

Female of reproductive age, african american, joint pain

104
Q

SLE cardiac manifestation

A

Libman-Sacks endocarditis: nonbacterial, wart like valvular vegetations

105
Q

SLE renal manifestation

A

Nephritic: Diffuse proliferative glomerulonephritis (subendothelial IgG immune complexes with c3. granular IF)
Nephrotic: Membraneous Glomerulonephritis

106
Q

Elevated CD4/CD8 ratio + noncaseating granuloma and bilateral adenopathy

A

Sarcoidosis (note: similar presentation but increased CD8 is called hypersensitivity pneumonitis–>farmers/bird handlers with type 3/4 rxn to environmental antigen)

107
Q

Associations with SLE (6)

A 
Restrictive lung fibrosis
Erythema nodosum (painful shin nodule)
Uveitis
Hypercalcemia
Bell Palsy
Epithelioid Granuloma
108
Q

Hypercalcemia in sarcoidosis

A

increase 1-alpha-hydroxylase-mediated vitD activation in MACROphage

109
Q

Painful syndrome associated with temporal(giant cell) arteritis

A

Polymyalgia rheumatic

110
Q

Define polymyalgia rheumatica

A

Pain/stiffness in SHOULDS AND HIPS (pelvic girdle). Women >50 and ass. with Temporal arteritis. Responds to corticosteroids.

111
Q

Lab findings in polymyalgia rheumatica

A

Increased ESR and CRP, normal Creatine kinase. (note: these labs are seen in osteomyelitis as well)

112
Q

Female 20-50 with pain

A

Fibromyalgia. Fibromyalgia is in girls that still Fuck

113
Q

Female >50 with pain

A

Polymyalgia rheumatica

114
Q

Chronic, wisespread musculoskeletal pain. Ass. with stiffness, paresthesia, poor sleep and concentration, fatigue

A

Fibromyalgia

115
Q

Tx for Fibromyalgia

A

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
Q

chronic inflam disease of Spine and Sacroiliac joints

A

ankylosing spondylitis

117
Q

stiff spine due to fusion of joints

A

ankylosis (ankylosing spondy). Baboo spine –> fusion of vertebrae

118
Q

ankylosis (stiff spine from joint fusion), uveitis, aortic regurg

A

ankylosing spondylitis

119
Q

morning stiffness, low back pain in a man

A

ankylosing spondylitis

120
Q

bugs implicated in Reactive arthritis (reiters)

A

Chlamydia + GI (salmonella, shigella, campylobacter, yersinia)

121
Q

What kind of mutation/inheritance is Duchenne and Becker and Myotonic Dystrophy?

A

Duchenne: Frameshift (insertion/deletion/duplication). X
Becker: Nonframeshift insertions. X
Myotonic Dystrophy: Trinucleotide repeat.

122
Q

Cataracts, Testicular atrophy, frontal balding, arrythmia, myotonia, muscle wasting

A

Myotonic Dystrophy

My Tonia, My Testicles, My Toupee, My Ticker, My Cat

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