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79 Cards in this Set
- Front
- Back
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Patient is a dwarf with short limbs and a large head. Parents had same condition. Patient has normal fertility.
Dx? Cause? Genetics? |
Achondroplasia = Chondrocytes inhibited by FGFR3 --> failure of endochondrial ossification (short limbs), but normal membranous ossification (lare head)
>85% sporadic mutations, associated with advanced paternal age, can be autosomal dominant |
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What is lacking in osteoperosis?
2 types? |
Reduction in trabecular (spongy) bone
I = post-menopausal increase in bone resorption due to decrease in estrogen II = senile - affects men and women > 70yo |
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Patient has less trabecular bone than normal, experiences acute back pain, loss of height, and kyphosis (vertebral crush factors), femoral neck fractures, distal radius (Colles' fractures)
what should you prescribe for prophylaxis? For Treatment? |
Osteoperosis
Prophylaxis = Ca and exercise before age 30 Treat = estrogen (SERMs), calcitonin severe - bisphosphanates, pulsatile PTH NO GLUCOCORTS |
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Patient has frequent bone fractures
-serum Ca, Phosphate, and ALP are NORMAL -patient has anemia, thrombocytopenia, lots of infections -signs of extramedullary hematopoiesis on Xray - see bones that flare out like an erlenmeyer flask dx? Cause? What can this lead to? |
Osteopetrosis
Failure of normal bone resorption -> thick, dense bones that are prone to fracture (blood symptoms due to decreased marrow space) due genetic deficiency of carbonic anhydrase II --> osteoclast dysfunction can cause CN impingement and palsies due to narrow foramina |
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Patient has osteomalacia
what are they deficient in? What do you see in the serum? in childhood, what is this caused? |
defective mineralization/calcification due to vitamin D deficiency (reversible)
low Ca, low phosphate, high PTH Rickets |
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Patient comes in with long bone chalk-stick fractures and hearing loss
-Serum Ca, P, and PTH normal -Increased ALP -see mosaic bone patttern dx? path? cause? 3 other effects of this |
Paget's disease
-increase in osteoblastic and osteoclastic activity --> abnormal bone architecture (hearing loss due to auditory foramen narrowing) paramyxovirus possibly 1. Increase in AV shunts --> high output heart failure 2. fractures 3. osteogenic sarcoma |
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-decreased bone mass
-normal Ca, phosphate, ALP, and PTH dx? |
osteoperosis
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-thick, dense bones
-normal Ca, phosphate, ALP, and PTH |
osteopetrosis
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-soft bones
-low Ca, low Phosphate, high PTH |
osteomalacia/rickets
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-"brown tumors"
-high serum Ca, high ALP, high PTH -low phosphate |
osteitis fibrosa cystica
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-abnormal bone architecture
-normal Ca, phosphate, PTH -High ALP |
paget's disease
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Condition in which bone is replaced with fibroblasts, collagen, and irregular bony trabeculae, affects many bones
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polyostotic fibrous dysplasia
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Condition in which bone is replaced with fibroblasts, collagen, and irregular bony trabeculae
+ -precocious puberty (endocrine) -cafe au lait sots |
McCune-Albright syndrome = form of polyostotic fibrous dysplasia
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Primary bone tumors
-new piece of bone grows on another piece of bone -associated with Gardner's syndrome (FAP) |
osteoma
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Primary bone tumors
Man < 25yo presents with <2cm tumor on his proximal tibia and femur. On biopsy, you see interlacing trabeculae of woven bone surrounded by osteoblasts dx? |
osteoid osteoma
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Primary bone tumors
Man < 25yo presents with tumor on his vertebrae On biopsy, you see interlacing trabeculae of woven bone surrounded by osteoblasts dx? |
Osteoblastoma (same as osteoid osteoma)
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Patient is 20-40yo, has tumor round distal femur/proximal tibial region (knee)
-xray: soap bubble -biopsy: spindle-shaped cells with multinucleate giant cells dx? course? |
giant cell tumor (osteoclastoma)
locally aggressive, benign |
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Man < 25yo presents with a tumor in long metaphysis
-biopsy: mature bone with a cartilaginous cap dx? course? |
osteochondroma (exostosis) = most common benign bone tumor
rarely transforms to malignant osteosarcoma |
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Benign cartilaginous neoplasm found in intramedullary bone, usually in distal extremities
How is it different than chondrosarcoma? |
enchondroma
usually in distal extremities (not long metaphysis) |
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Most common primary malignant tumor of bone?
second? |
multiply myeloma
osteosarcoma |
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Patient is between 10-20yo
-tumor in metaphysis, often in distal femur/proximal tibia -xray shows codman's triange (sunburst pattern) -biopsy reveals malignancy Predisposing factors: Paget's, bone infarcts, radiation, familial retinoblastoma dx? |
osteosarcoma
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Patient is a boy < 15 yo
-has aggressive bone cancer in diaphysis of long bones, pelvis, scapula, ribs -biopsy: see anaplastic small blue cells, onion skin appearance dx? cause? course? |
Ewing's sarcoma
11;22 translocation (11+22=33 Patrick Ewing's number) aggressive with early mets, but responds to chemo |
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Patient is male 30-60yo
-malignant cartialginous tumor in pelvis, spin, scapula, humerus, tibia, or femur -expansile glistening mass within medullary cavity dx? |
Chondrosarcoma
(can be primary or from osteochondroma) |
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Patient presents with
-pain in weight bearing joints after use, imporoves with rest -bowleggedness due to weak knees (medial) -noninflammatory, no systemic sympoms -See heberden's nodes (DIP) and bouchard's noes (PIP), bone spurs dx? cause? 3 predispoing factors |
osteoarthritis
mechanical wear and tear of joints --> destruction of articulated cartilage, subchondral cysts, sclerosis, osteophytes, eburnated bone age, joint deformity, obesity |
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Patient is a woman with morning stiffness lasting > 30 mins that improves with use, involves symmetric joints
-also has systemic symptoms (fever, fatigue, pleuritis, pericarditis) -see swan neck deformity or boutonniere deformity dx? cause? what would you see in the serum? |
Rheumatoid arthritis
type II hypersensitivity - autoimmune inflammatory disorder involving synovial joints positive rheumatoid factor (80%), anti CCP, HLA-DR4 |
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On histology of a bone, you see
-bone and cartilage erosion, with increased synovial fluid and pannus formation You also see fibrinoid necrosis surrounded by palisading histiocytes patients fingers are deformed (boutonniere, swan neck, z-thumb) -no DIP involvement -ulnar deviation dx? |
RA
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Patient is a female 40-60 yo
-dry eyes, conjuctivitis, complains of "sand in eyes" -dry mouth, dysphagia -arthritis also, parotid is enlarged serum: ss-A (ro), ss-b (la) dx? risks? associated with what condition? |
sjogren's syndrome (xerophthalmia, xerostomia, arthritis)
B cell lymphoma, dental carries (due to parotid enlargement) associated with RA |
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Patient has dry eyes, dry mouth, nasal/vaginal dryness, chronic bronchitis, reflux esophagitis
dx? how is this different from sjogren's? |
sicca syndrome
sjogren's has arthritis! |
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Patient suffers from painful MTP joint of big toe - swollen, red, painful
-see tophi on external ear, olecranon bursa, or achilles tendon -attacks get worse after a large meal or alcohol consumption -see yellow crystals under parallel light dx? 2 general causes? gender prominence? |
gout
renal underexcretion (90%) or cell overprduction (10%) of uric acid males |
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-Lesch Nyhan syndrome
-phosphoribosylpyrophosphate excess -thiazide diuretics -increased cell turnover -von Gierke's disease risk factors for what? |
Gout = precipitation of monosodium urate crystals into joints due to hyperuricemia
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Patient has joint inflammation + needle shaped, negatively birefringent crystals (yellow in parallel light)
acute treatment? chronic? |
Gout
acute: NSAIDS, colchicine chronic: allopurinol, uricosurics (probenicid) |
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Patient is >50yo, experiences knee inflammation
-aspiration shows basophilic, rhomboid, weakly positively birefringent crystals (yellow in perpendicular, blue in parallel light) dx? treat? |
pseudogout = calcium pyrophosphate crystals in joint space
no treatment |
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crystal birefringence
gout vs. pseudogout |
gout = yellow in parallel, blue in perpendicular
pseudogout = blue in parallel, yellow in perp. |
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3 common causes of septic arthritis
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S. aureus, Streptococcus, Neisseria gonorrhoeae
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patient experiences
-monoarticular, migratory arthritis with asymmetrical pattern -joint is inflamed -patient has a fever, high WBC count dx? |
Septic arthritis - gonococcal
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3 possible sequelae of gonococcal arthritis
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STD = Synovitis (knee), Tenosynovitis (hand), Dermatitis (pustules)
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Cause of chronic infectious artiritis (2)
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TB, Lyme disease
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4 seronegative spondyloarthropathies
different from arthritis? HLA association? |
PAIR = Psoriatic arthritis, Ankylosing spondylitis, Inflammatory bowel disease, Reactive arthritis
no rheumatoid factor, occurs more in males HLA-B27 |
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Patient has psoriasis, presents with
-joint stiffness and pain, asymmetric and patchy -fingers are FAT like sausages -xray = see "pencil in a cup" dx? associated with which HLA? How many patients with psoriasis present like this? |
psoriatic arthritis (seronegative spondyloarthropathy)
HLA-B27 1/3 |
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Patient presents with stiff spine due to fusion of joints
-redness of eye, pain, vision loss, floaters, photophobia -diastolic murmur on xray, you see bamboo-looking spine dx? pathology? |
Ankylosing spondylitis (seronegative spondyloarthropathies)
chronic inflammatory disease of spine and sacroiliac joints --> ankylosis, uveitis, aortic regurg |
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Patient is a male that presents with arthritis
+dysuria +red, inflammed eyes dx? cause? |
Reactive arthritis (Reiter's syndrome)
Conjunctivitis, Urethritis, Arthritis "Can't see, can't pee, can't climb a tree" post GI or chlamydia infection |
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SLE
who is affected primarily? |
90% are females between 14-45yo, esp. black females
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11 signs/symptoms of SLE
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I'M DAMN SHARP
-Immunoglobulins (anti-dsDNA, anti-Sm, antiphospholipid) -Malar rash -Discoid rash -Antinuclear antibody -Mucositis (oropharyngeal ulcers) -Neuro disorders -Serositis (pleuritis, pericarditis) -Hematologic disorders -Arthritis -Renal disorders - wire loop lesions, nephritic syndrome -Photosensitivity |
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Patient is a black young female with
-fever, fatigue, wt, loss -nonbacterial endocarditis -hilar adenopathy -Raynaud's -you find anti-dsDNA dx? |
SLE
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Diagnosing SLE - what's the test
a. sensitive, but not specific b. very specific, indicates poor prognosis c. very specific, but not prognostic d. drug-induced |
a. ANA
b. anti-dsDNA c. anti-Sm d. anti-histone |
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A patient with SLE tests positive for Syphilis. Why might you be suspicious?
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SLE causes false positives of syphilis test (RPR/VDRL) due to antiphospholipid antibodies, which cross react with cardiolipin in tests
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Gammaglobulinemia
RA (through treatment w/ ethercept) ACE increase Interstitial fibrosis Noncaseating granuloma dx? treat? |
Sarcoidosis (GRAIN symptoms)
steroids |
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Schaumann and asteroid bodies
associated with what condition |
sarcoidosis
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Restrictive lung disease
bilateral hilar lymphadenopathy Erythema nodosum Bell's palsy epithelial granulomas uveoparotitis hypercalcemia associated with what condition |
sarcoidosis
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Why might one see hypercalcemia in a patent with sarcoidosis
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epitheloid macrophages have elevated 1a-hydroxylase mediated vitamin D activation
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Patient > 50 yo presents with pain and stiffness in shoulders and hips + fever, malaise, wt. loss
-no muscular weakness -high ESR, normal CK dx? associated with what condition? treat? |
Polymyalgia rheumatica
temporal (giant cell) arteritis prednisone |
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Patient has progressive, symmetric, proximal muscle weakness (shoulders)
-serum has increased CK, increased aldolase -positive ANA, anti-Jo-1 dx? what would you see on histo? treat? |
polymyositis
see CD8 T cells in myofibers Steroids |
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Patient presents with Patient has progressive, symmetric, proximal muscle weakness (shoulders)
-malar rash, heliotrope rash, shawl and face rash, gottron's papules, rough "mechanic's" hands -serum has increased CK, increased aldolase dx? what would you see on histo? what would you see on immunoflurouescence? increases risk of what condition? |
dermatomyositis
histo: perifascicular infiltration of myocytes by CD8 T cells immuno: anti ANA, anti Jo Increased risk of malignancy |
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Most common NMJ disorder
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Myasthenia gravis
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Patient has droopy eyelids, double vision, general wekaness
-nerve stimulation/compound muscle AP test shows progressive weakness after use -edrophonium relieves weakness dx? Path? associated with what condition |
Myasthenia gravis
autoantibodies to postsynaptic AChR associated with thymoma |
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Patient presents with proximal muscle weakness
-symptoms improve with muscle use -AChE inhibitors do not reverse symptoms dx? path? associated with what conditions |
Lambert-Eaton
Autoantibodies to presynaptic Ca channel --> less release of ACh associated with paraneoplastic diseases (small cell lung cancer) |
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Patient (female 75%) presents with puffy, taut skin without wrinkles
-cannot straighten fingers, ulcerated fingertips -dysphagia, restrictive lung disease, HTN possible as well dx? How do these symptoms come about? 2 types? |
Scleroderma = excessive fibrosis and collagen deposition throughout body
dysphagia = sclerosis of esophagus restrictive lung = sclerosis of lung HTN = sclerosis of small vessels of kidney Diffuse scleroderma, CREST |
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Patient (female 75%) presents with puffy, taut skin without wrinkles
-cannot straighten fingers, ulcerated fingertips -dysphagia, restrictive lung disease, HTN possible as well -rapidly progressive -see anti-Scl-70 (anti DNA topoisomerase I Ab) dx? |
Diffuse scleroderma
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Patient presents with
-Ca deposits in soft tissue -fingers turn blue in cold -dysphagia -tight finger skin -telangiectasias -anticetnromere antibody |
CREST = calcinosis, raynaud's, esophageal dysmotility, Sclerodactyly, Telangiectasias
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Lipoxygenase turns arachidonic acid into what
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Leukotrienes
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Role of LTB4
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PMN chemotaxis
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LTC4, D4, E4
function |
broncoconstriction, vasoconstirction, contract smooth muscle, increase vascular permeability
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Role of PGI2
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inhibits platelet aggregation, promotes vasodilation, decreases uterine tone
"Platelet Gathering Inhibitor" |
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4 roles of PGE2
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decrease vascular tone
increase pain increase uterine tone increase temp |
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2 roles of TXA2
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increases platelet agg and vasoconstriction
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Aspirin - use
a. low dose b. med dose c. high dose |
a. low (<300mg/day) = decreases platelet agg
b. med (300-2400mg/day) = antipyretic and analgesic c. high (2400-4000mg/day) = anti-inflammatory |
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Aspirin
MOA Tox - acute, chronic (3), children |
MOA - inhibits COX irreversibly, inhibits PGE and TXA
Tox -gastric upset -chronic = acute renal failure, interstitial nephritis, upper GI bleed -kids (w/virus) = Reyes |
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Ibuprofen, naproxen, indomethacin, ketorolac
class MOA Use Tox |
NSAIDS
MOA: inhibit (reversibly) COX 1 and 2 --> blocks PGE2 synth Use: antipyretic, analgesic, anti-inflamm -indomethicin closes PDA Tox: renal damage, fluid retention, aplastic anemia, GI distress, ulcer |
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Celecoxib
MOA Use Tox |
MOA - reversibly inhibits COX 2 (inflammatory cells and vascular endothelium) --> spares COX-1, so gastric mucosa should be spared
Use - Rheumatoid and osteoarthritis, patients with gastritis or ulcers Tox - thrombosis, sulfa allergy, less toxic to GI |
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Acetaminophen
MOA Use Tox |
MOA: reversibly inhibits COX, mostly in CNS, inactivated peripherally
Use: antypyretic, analgesic, but not anti-inflamm; use in kids tox: hepatic necrosis (glutathione depletion by NAPQI), rescue by N-acetyl-cysteine |
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Etidronae, Pamidronate, alendronate, risedronate, zoledronate (IV)
class MOA use Tox |
Bisphosphonates
MOA: inhibits osteoclasts, reduces formation and resorption of hydroxyapatite Use: malignancy-assoc. hypercalcemia, paget's, post-menopausal osteoperosis tox: corrosive esophagitis (not zoledronate), nausea, diarrhea, osteonecrosis of jaw |
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Gout drugs
drug used for acute gout MOA Tox |
Colchicine (use w/NSAIDS like indomethicin)
MOA: inhibits leukocyte chemotaxis and degranulation by binding to tubulin and inhibits polymerization/degranulation GI side effects (esp oral) |
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Drug used in chronic gout that work by inhibiting reabsorption of uric acid in PCT
what else does it inhibit |
probenecid
inhibits secretion of penicillin |
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2 agents that inhibit reabsorption of uric acid in PCT
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probenecid
high-dose salicylates (but don't use these because you need highest doses, only gives you minor uricosuric activity) |
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drug used in chronic gout that is also used in lymphoma and leukemia to prevent tumor lysis-associated urate nephropathy
MOA side effects |
Allopurinol
Inhibits xanthine oxidase --> inhibits conversion of xanthine to uric acid increases conc. of azathioprine and 6-MP (normally metabolized by xanthine oxidase) |
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2 drugs that inhibit tubular secretion of uric acid
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diuretics
low-dose salicylates |
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Recominant TNF receptor used in RA, psoriasis, ankylosing spondylitis
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EtanerCEPT is a TNF decoy reCEPTor
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Anti-TNF Ab used in Crohn's, RA, ankylosing spondylitis
tox? |
INFLIXimab inflix pain on TNF
predisposes to infections (reactivation of latent TB) |
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anti-TNF antibody used in RA, psoriasis, and ankylosing spondylitis
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Adalimumab
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