Test Flashcards

1
Q

abdominal pain; ascites; hepatomegaly

A

Budd-Chiari syndrome (posthepatic venus thrombosis)

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2
Q

achilles tendon canthoma

A

familial hypercholesterolemia (low LDL receptor signaling)

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3
Q

adrenal hemorrhage; hypotenion; DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

arachnodactyly; lens dislocation; aortic dissection; hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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5
Q

athlete with polycythemia

A

epo injection

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6
Q

back pain; fever; night sweats; weight loss

A

pott’s disease (vertebral tuberculosis)

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7
Q

bilateral hilar adenopathy; uveitis

A

sarcoidosis (noncaseating granuloma)

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8
Q

blue sclera

A

osteogenesis imperfecta (collagen defect)

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9
Q

bluish line on gingiva

A

burton’s line (lead poisoning)

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10
Q

bone pain; bone enlargement; arthritis

A

parget’s disease of bone (increased osteoblastic and osteoclastic activity)

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11
Q

bounding pulses; diastolic heart murmur; head bobbing

A

aortic regurgitation

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12
Q

“butterfly” facial rash and Raynaud’s phenomenon in a young female

A

SLE

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13
Q

café au lat sports; Lisch nodules (iris hamartoma)

A

NF I (plus pheochromocytoma; optic gliomas) NF II (plus bilateral acoustic neuromas)

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14
Q

café au lait spots; polyostotic fibrous dysplasia; precocious puberty

A

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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15
Q

Calf pseudohypertrophy

A

muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene

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16
Q

“Cherry-red spot” on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomylein accumulation); central retinal artery occlusion

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17
Q

chest pain on exertion

A

angina (stable: moderate exertion; unstable: minimal exertion)

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18
Q

chest pain; pericardial effusion/friction rub; persistent fever following MI

A

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis; 1-12 weeks after acute episode)

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19
Q

child uses arms to stand up from squat

A

gowers’ sign (Duchenne muscular dystrophy)

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20
Q

chorea; dementia; caudate degeneration

A

Huntington’s disease (AD CAG repeat expansion)

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21
Q

chronic exercise intolerance with myalagia; fatigue; painful cramps; myoglobinuria

A

McArdle’s dz (muscle glycogen phosphrylase deficiency)

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22
Q

cold intolerance

A

hypothyroidism

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23
Q

conjugate lateral gase palsy; horizontal diplopia

A

internuclear opthalmoplegia (damage to MLF; bilateral [MS]; unilateral [stroke])

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24
Q

continuous “machinery” heart murmur

A

PDA (close with indomethacin; open with misoprostol)

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25
Q

deep; labored breathing/ hyperventilation

A

Kussmaul breathing (diabetic Keto acidosis)

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26
Q

Dermatitis; dementia; diarrhea

A

Pellagra (nice and [vitamin B3] deficiency)

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27
Q

Dilated cardiomyopathy; edema; Piner of the

A

Wet beriberi thiamine deficiency

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28
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (sideways at inoculation site)

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29
Q

Dry eyes; dry mouth; arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine lands)

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30
Q

Dysphagia (esophageal webs); glossitis; iron deficiency anemia

A

Plummer-Vinson syndrome (made progress to esophageal squamous cell carcinoma)

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31
Q

Elastic skin; hyper mobility of joints

A

Ehlers-danlos (type three collagen in defect)

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32
Q

Enlarged; hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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33
Q

Erythroderma; lymphadenopathy; hepatosplenomegaly; a typical T cells

A

Sezary sandro (cutaneous T cell lymphoma) or mycosis fungoides

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34
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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35
Q

fat; female; forty; and fertile

A

acute cholelithiasis (bil duct blockage)

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36
Q

fever; chills; headache; myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochete results in toxin relase)

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37
Q

fever; cough; chroyza; conjunctivitis; diffuse rash

A

measles (morbillivirus)

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38
Q

fever; night sweats; weight loss

A

B symptoms (lymphoma)

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39
Q

fibrous plaques in soft tissue of penis

A

peyronie’s disease (connective tissue d/o)

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40
Q

gout; mental retardation; self-mutilating behavior in a boy

A

lesch-nyahan syndrome (HGPRT def; X-linked; recessive)

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41
Q

green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s dz)

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42
Q

hamartomatous GI polyups; hyperpigmentation of mouth/feet/hands

A

peutx-Jeghers syn (genetic benign polyposis can cause bowel obstruction; inc cancer risk)

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43
Q

hepatosplenomegale; osteoporosis; neurologic symptoms

A

Gaucher’s dz (glucocerebrosidase deficiency)

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44
Q

hereditary nephritis; senorineural hearing loss; cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

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45
Q

hypercoagulability (leading to migrating DVTs and casculitis)

A

Trousseau’s sign (adenocarcinoma of panc aor lung)

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46
Q

hyperphagia; hypersexuality; hyperorality; hyperdocility

A

Kluver-Bucy syndrome (b/l amygdala lesion)

47
Q

hyperreflexia hypertonia; positive Babinski sign

A

UMN damage

48
Q

Hypertension; hpyokalemia; metabolic alkalosis

A

Conn’s syndrome (low cortisol?)

49
Q

hyporeflexia; hypotonia; atrophy

A

LMN damage

50
Q

hypoxemia; polycythemia; hyporcapnia

A

“blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

51
Q

indurated; ulcerated; genital lesion

A

nonpainful: chancre (primary syphilis); Painful with exudate: chancroid (Haemophilis ducreyi)

52
Q

infant with failure to thrive; hepatosplenomegaly; neurodegeneration

A

Niemann-Pick dz (genetic sphingomyelinase def)

53
Q

infant with hypoglycemia; failure to thrive; and hepatomegaly

A

Cori’s dz (debbranching enzyme def)

54
Q

infant with microcephaly; rocker-bottom feet; clenched hands; and stuctural heart defect

A

Edwards’ syndrome (trisomy 18)

55
Q

large rash with bull’s eye appearance

A

erythema chonicum migrans from Ixodes tick bite (Lyme dz: Borrelia)

56
Q

lucid interval after traumatic brain injury

A

epidural hematoma (middle meningeal artery rupture)

57
Q

male child; recurrent infections; no mature B cells

A

Bruton’s dz (z linked a gammaglobulinemia)

58
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

59
Q

multiple colon polups. Osteomas/soft ts tumors; impacted/supernumerary teeth

A

gardner’s syndrome (subtype of FAP)

60
Q

myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance

A

Pompe’s dz (lysosomal alpha 1.4 glucosidase deficiency)

61
Q

necrtizing vaculitis of lungs and necrotizing glomerulonephritis

A

Wegner’s (c-ANCA positive) and goodpastures’s syndromes (anti-basement membrane antibodies)

62
Q

neonate with arm paralysis following difficult birth

A

erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus injury ; “waiter’s tip”

63
Q

no lactation postpartum; absent menstuation; cold intolerance

A

Sheehan’s syndrome (pituitary ifarction)

64
Q

nystagmus; intention trmor; scanning apeech; b/l internuclear ophthalmoplegia

A

MS

65
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or inc intracranial pressure)

66
Q

painful blue fingers/toes; hemolytic anemia

A

cold agglutinin dz (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae; infectious mononucleosis)

67
Q

painful; pale; cold finger/toes

A

Raynaud’s syndrome (vasospasm in extremities)

68
Q

painful; raised red lesions on palm and soles

A

Osler’s node (infective endocarditis)

69
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

70
Q

painless jaundice

A

cnacer of the panc head obstruction bile duct

71
Q

palpable purpura on buttocks/lags; joint pain; abdominal pain (child)

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

72
Q

pancreatic; pituitary; parathyroid tumors

A

MEN I (Autosomal dominant)

73
Q

pink complexion; dyspnea; hyperventiliation

A

“pink puffer” (emphysema: centroacinal (smoking); panacinar (alpha antitrypsin def))

74
Q

polyuria; acidosis; groth failure electrolyte imlbalnces

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

75
Q

positive anterior “drawer sign”

A

ACL

76
Q

ptosis; miosis; anhidrosis

A

Horner’s (sympatheitc chain lesion)

77
Q

pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurospphilis)

78
Q

rapidly progressive leg weakness that ascentds (following GI/URI)

A

Guillain Barre syndrome (autoimmune acute inflammatory demyelinatin gpolyneuropathy)

79
Q

rash on pals and soles

A

cozaskie A; secondary syphilis; RMSF

80
Q

recurrent colds; unusual eczema; high serum IgE

A

hyper-IgE syndrome (Job’s syndrome: neutrophil chemotaxis abnormality)

81
Q

red “currant jelly” sputum in alcoholic or diabetic pt

A

Klebsiella pneumoniae

82
Q

red; itchy; swollen rash of nipple/areola

A

paget’s dz of the breast (represents underlying neoplasm)

83
Q

red urin in morning; fragile RBCs

A

paroxysmal nocturnal hemoglubinuria

84
Q

renal cell carcinoma (b/l); hemangioblastomas; angiomatosis; pheochromocytoma

A

con Hippel-Linday dz (dominant tumor suppressor gene mutation)

85
Q

resting tremor; rigidity; akinesia; postural instability

A

Parkinson’s dz (nigrostriatal dopamine depletion

86
Q

reinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

87
Q

sever jaundice in neonate

A

crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)

88
Q

severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

89
Q

short stature; inc incidence of tumor/lukemia; aplasitc anemia

A

Fanoci’s anemia (genetic loss of DNA crosslink repoair; often progresses to AML)

90
Q

single palm crease

A

simian crease (T21)

91
Q

situs inversus; chronic sinusitis; bronchiectasis; infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

92
Q

skin hyperpigmentation

A

addison’s dz( primary adrenocortical insufficiencey causesincr ACTH and alpha MSH production)

93
Q

slow; progressive muscle weakness in boys

A

Backer’s muscular dystrophy (X0linked missense mutation in dystophin; less sever than Duchenne’s)

94
Q

small; irregular red spots on buccal/lingual mucosa with blue-white centers

A

koplik spits (measles; rubeola virus)

95
Q

smooth; flat; moist white lesions on genetals

A

condylomata late (secondary syphilis)

96
Q

splinter hemorrhages in finger nailsx

A

bacterial endocarditis

97
Q

strawberry tongue

A

scarlet fever; kawasaki dz; tozic shock syndrome

98
Q

streak ovaries; congenital heart dz; horseshoe kidney; cystic hygroma at birth

A

turner syndrome (45 XO; short-stature; webbed neck lymphedema)

99
Q

sudden swollen/painful big toe joint; tophi

A

gout/podagra (hyperuricemia)

100
Q

swollen gums; mucous bleeding ; poor wound healing; spots on skin

A

scurvy (vitamin C deficiency; can’t hydroxylate proline/lysine for collagen synthesis)

101
Q

swollen; hard; painful finger joints

A

osteoarthritis (osteophytes on PIP (Bouchard’s nodes); DIP (Heberden’s nodes)

102
Q

systolic ejection murmur (cresendo-decresendo)

A

AS

103
Q

thyroid and parathyroid tumors; pheochromocytoma

A

MEN2A (autosomal dominant ret mutation)

104
Q

thyroid tumors; pheochromocytoma; gangioneuromastosis

A

MEN2B (sutosomal dominant ret mutation)

105
Q

tow extension/fanning upon plantar scrape

A

babinski sign (UMN lesion)

106
Q

unilateral facial drooping involving forehead

A

bell’s palsy) LMN CN VII palsy)

107
Q

urethritis; conjunctivitis; arthritis in a mole

A

reactive arthritis a/w HLA-B27

108
Q

vascular birthmark (port-wine stain)

A

hemangio (benigh; but a/w sturge -weber syndrome)

109
Q

vomiting blood following esophagogastric lacerations

A

Mallory-weiss syndrome (alcoholic and bulimic lts)

110
Q

waxy casts with very low urin flow

A

chronic end-stage renal dz

111
Q

WVC cast in urine

A

acute pyleonephritis

112
Q

weight loss; diarrhea; arthritis; fever; adenopathy

A

whipple’s dz (Tropheryma whippleii)

113
Q

wort headace of life

A

subarachnoid