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UWorld Review Incorrects > Rapid Review Common Diagnosis Findings > Flashcards

Rapid Review Common Diagnosis Findings Flashcards

1
Q

gout, intellectual disability, self-mutilation in boy

A

Lesch-Nyhan syndrome (HGPRT deficiency), X-linked

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2
Q

situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility

A

Kallman syndrome, dynenin arm defect of the cilia

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3
Q

blue sclera

A

osteogenesis imperfecta 1 (collagen 1 deficit)

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4
Q

elastic skin, hypermobility, increased bleeding tendency

A

Ehlers-Danlos (type 5 collagen defect, type 3 collagen defect seen in vascular ED)

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5
Q

arachnodactyly, pectus deformity, lens dislocation downward)

A

Homocystinuria (AR inheritance)

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6
Q

u/l cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, MEN abnormalities

A

McCune-Albright syndrome (Gs protein activating mutation)

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7
Q

meconium ileus in neonate, recurrent pulm infections, nasal polyps, pancreatic insuffiency, infertility/subfertility

A

CF (CFTR gene defect, ch7, Ph508 deletion)

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8
Q

calf pseudodystrophy

A

Muscular Dystrophy (most commonly Duchenne, X-linked R, frameshift mutation in dystrophin gene)

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9
Q

child who uses arms to get up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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10
Q

infant w/ cleft lip/palate, microcephaly/holoprosencphaly, polydactyl, cutis aplasia

A

Patau syndrome (tri 13)

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11
Q

infant w/ microcephaly, rocker-bottom feet, clenched hands, structural heart defect

A

Edwards Syndrome (tri 18)

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12
Q

single palmer crease

A

Downs Syndrome (tri 21)

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13
Q

confusion, opthalmoplegia/nystagmus, ataxia

A

Wernicke Encephalopathy

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14
Q

dilated cardiomyopathy/HOHF, edema, alcholism or malnutrition

A

Wet beriberi (thaiamine B1 def)

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15
Q

burning feet syndrome

A

Vit B5 def

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16
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin, Vit B3 def)

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17
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

scurvy (Vit C def, can’t hydroxylate proline/lysine for collagen synthesis); tea & toast diet

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18
Q

bowlegs in children, bone pain, muscle weakness

A

rickets (kids), osteomalacia (adults), vit D deficiency

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19
Q

hemorrhagic disease of newborn w/ inc PT, inc PTT

A

vit K def

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20
Q

black-bluish CT, ear cartilage, sclerae; urine turns black on prolonged exposure to air

A

alkptonuria (homogentisate oxidase def; orchronosis)

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21
Q

chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phophorylase def)

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22
Q

infant w/ hypoglycemia, heptaomegaly

A

Cori disease (debranching enzyme def)
Von Gierke (G6PD, more severe)

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23
Q

myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance

A

Pompe disease (lysosomal a1-4 glucosidase def)

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24
Q

cherry red spots in macula

A

Tay-Sachs (ganglioside acculumalation)
Nieman Pick (sphingomyelin acccumulation)
central retinal artery occulsion

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25
Q

hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crisis

A

Gaucher disease (glucocerebrosidase B-glucosidase def)

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26
Q

achielles tendon xanthoma

A

familial hypercholesterolemia (dec LDL receptor signaling)

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27
Q

recurrent neisseria infection

A

terminal complement def (C5-C9)

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28
Q

anaphylaxis following blood transfusions

A

IgA def

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29
Q

male child, no mature B cells, recurrent infections

A

Bruton dis (X-linked agammaglobulinemia)

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30
Q

recurrent cold, noninflammed abcesses, ezcema, high serum IgE, inc eosinophils

A

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

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31
Q

late separation (>30days) of umbilical cord, no pus, recurrent skin & mucosal bacterial infections

A

leukocyte adhesion def (type 1, def LFA-1 integrin)

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32
Q

recurrent infections & granulomas w/ catalase+ organisms

A

chronic granulomatous disease (defect NADPH oxidase)

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33
Q

fever, vomitting, diarrhea, desquating rash f/u use of nasal pack/tampon

A

staph toxic shock syndrome

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34
Q

strawberry tongue

A

scarlet fever
kawaski disease

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35
Q

colon cancer diagnosed a few yrs after endocarditis

A

strept bovis

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36
Q

abd pain, dirrhea, leukcocytosis, recent antibiotics

A

C diff infection

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37
Q

flaccid paryalsis of newborn s/p honey

A

C botulinum infection (floppy baby syndrome)

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38
Q

tonsillar pseudomembrane w/ bull’s neck appearance

A

C diphtheria infection

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39
Q

back pain, fever, night sweats

A

pott disease (vertrbral TB)

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40
Q

adrenal insufficency, fever, DIC

A

waterhouse-friderischsen syndrome (meningococcemia)

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41
Q

red “currant jelly” sputum in pts w/ alcohol overuse or diabetes

A

Klebesiella pneumoniae

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42
Q

large rash w/ bull’s eye appearance

A

erythema mirgrans from ixodes tick bite (lyme disease borrelia)

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43
Q

ulcered lesion on genitals, nonpainful, indurated

A

chancre (1 syphillis)

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44
Q

ulcerated lesion on genitals, painful w/ exudate

A

chancroid (hae ducreyi)

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45
Q

pupil accommodates but no react to light

A

neurosyphillis (argyll robertson pupil)

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46
Q

smooth, moist, painless wart-like white lesion on genitals

A

condyloma lata (2 syphillis)

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47
Q

fever, chills, headache, myalgia f/u antibiotic tx for sphyllis

A

jarisch-herxheimer reaction (due to host response to sudden release of bacterial antigens)

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48
Q

slow, progressive weakness in boys

A

Becker musclar dystrophy (Xlinked non-frameshift, deletions in dystrophin, less severe)

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49
Q

dog/cat bite w/ resulting infection (cellulitis, osteomyeliis)

A

pasteruella multicida (cellulits at incoluation site)

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50
Q

atypical pneumo w/ xray looking worse than pt

A

mycoplasma pneumoniae infection

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51
Q

rash on palms/soles

A

coxsackie A, 2 sphyillis, rocky moutain spotted fever

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52
Q

black eschar on face w/ patient w/ DKA and/or neutropenia

A

mucor/rhizopus fungal infection

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53
Q

chorioreinitis, hydrocephalus, intracranial calicifactions

A

congenital toxo

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54
Q

pruitis, serpingious rash after walking barefoot

A

hookworm (ancylostoma, necator americanus)

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55
Q

child w/ fever that develops red rash on face then spreads to body

A

parvo B19, erythema infectiousosm

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56
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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57
Q

small, irregular red spots on buccal/lingual mucosa w/ blue-white centers

A

koplik spots (measles=rubeola virus)
paramxymovirus (ssRNA linear, enveloped)

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58
Q

bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

aortic regurgitation

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59
Q

systolic EJECTION murmur (C-D), narrow pulse pressure, pulsus parvus et tardus

A

aortic stenosis

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60
Q

continuous machine like murmur

A

PDA (close w/ indomethacin; open w/ PGE)

61
Q

chest pain on exertion

A

angina
stable> w/ moderate exertion
unstable> w/ minimal exertion/rest

62
Q

chest pain w/ ST depressions on ECG

A

angina> neg troponins
NSTEMI> pos troponins

63
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2wk-months after acute episode)

64
Q

distant heart sounds, distended neck veins, hypotension

A

beck triad of cardiac tamponade

65
Q

painful, red lesions on pads of fingers/toes

A

oslers nodes (infective endocarditis, immune complex deposition)

66
Q

painless, red lesion on palms/soles

A

janeway lesions (infective endocarditis, septic emboli/microabcesses)

67
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

68
Q

retinal hemorrhages w/ pale centers

A

roth spots (bacterial endocarditis)

69
Q

telengectiasa, recurrent nosebleds, skin discolorations, AV malformations, GI bleeding, hematuria

A

hereditary hemorrhagic telangiectasias (Osler-Weber-Rendu syndrome)

70
Q

polyuria (water diuresis), polydipsia

A

primary polydypsia, DI (central, nephrogenic)

71
Q

no lactation postpartum, absent menstraion, cold intolerance

A

sheehan syndrome (PPH leading to pit infarct)

72
Q

heat intolerance, weight loss, palpitations

A

hyperthyroidism

73
Q

cold intolerance, weight gain, brittle hair

A

hypothyroidism

74
Q

cutaneous/dermal edema due to deposition of mucopolysaccharides in CT

A

myxedema (via hypothyroidism, Graves disease (pretibial))

75
Q

facial muscle tapping>spasm

A

Chovstek sign (hypocalcemia)

76
Q

carpal spasm upon inflation of BP cuff

A

Trousseau sign (hypocalcemia)

77
Q

deep, labored breathing/hyperventilation

A

DKA (Kussmaul respirations)

78
Q

skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances

A

Addison’s disease (primary adrenal insuff)
inc ACTH, inc alpha-MSH

79
Q

shock, AMS, vomitting, abd pain, weakness, fatigue,

A

acute adrenal insuff (adrenal crisis)

80
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1 (AD MEN1 mutation)

81
Q

thyroid tumors, pheochromo, ganglioneuromatosis, Marfanoid habitus

A

MEN 2B (AD RET mutation)

82
Q

thyroid + parathyroid tumors, pheochromo

A

MEN 2A (AD RET mutation)

83
Q

cutaneous flushing, dirrhea, bronchospasm, heart murmur

A

carcinoid syndrome (inc 5-hydroxyindole acetic acid)

84
Q

jaundice, palpable distended non-tender GB

A

Courvoisier sign (distal malignant obstruction of biliary tree)

85
Q

vomitting blood 2/2 GE lacerations

A

mallory-weiss syndrome (alcohol use disorder, bulemia)

86
Q

dysphagia (esophageal webs), glossitis, iron def anemia

A

plummer-vinson syndrome (may progress to esophageal SQUAMOUS cell carcinoma0

87
Q

enlarged, hard L supraclavicular node

A

virchow node (abd metastsis)

88
Q

hematemesis, melana

A

upper GI bleed (ie PUD)

89
Q

hematochezia

A

lower GI bleed (ie colonic diverticulosis)

90
Q

athralgias, adeopathy, cardiac & neurological symtoms, dirrhea

A

Whipple’s disease (tropheryma whippeli), PAS+

91
Q

severe RLQ pain w/ palpation of LLQ

A

rovsing sign (acute appenditicits)

92
Q

secere RLQ pain w/ deep tenderness

A

McBurney point (acute appendicitis)

93
Q

harmatomous GI polyps, hyperpigmented macules on mouth, feet, hands, genitals

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; inc cancer risk, mainly GI)

94
Q

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumary teeth

A

gardner syndrome (subtype FAP)

95
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

96
Q

golden brown rings around peripheral cornea

A

Wilson disease (K-F rings due to copper accum)

97
Q

female, fat, forty, fertile

A

gallstones

98
Q

painless jaundice w/ enlarged GB

A

cancer of pancreatic head obstructing bile duct

99
Q

blue line on gums

A

lead poisoning (Burton line)

100
Q

short stature, cafe-au-lait spots, thumb/radial defects, inc incidence of tumors/leukemia, aplastic anemia

A

fanconi anemia (genetic loss of DNA crosslink repair> often progress to AML)

101
Q

red/pink urine in AM, fragile RBCs

A

paryoxsomal noctural hemoglobinuria

102
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumo, infectious mono, CLL)

103
Q

petechiae, mucosal bleeding, prolonged bleeding time

A

platelet disorders (Glanzmann thrombobasthemia, Bernard Soulier, HUS, TTP, ITP)

104
Q

fever, night sweats, weight loss

A

B symptoms of malignancy

105
Q

skin patches/plaques, Pautier microabsecces, atypical T cells

A

mycosis fungoides (cutaneous T cell lymphoma)
or Sezery syndrome (mycosis fungoides + malignant T cells in blood)

106
Q

neonate w/ arm paralysis f/u difficult birth, arm in “waiter’s tip” position

A

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury)

107
Q

bone pain, bone enlargement, arthritis

A

osteitis deformans (Paget dis of bone, inc osteoblastic and osteoclastic activity)

108
Q

swollen, hard, painful finger joints in elderly, pain worse w/ activity

A

OA (osteophytes on PIP “Bouchard”, DIP “Heberden”)

109
Q

sudden swollen painful big toe joint, thypi

A

gout/podagra (hyperuricemia)
needle shaped monourate sodium crystals, neg birefring

110
Q

dry eyes, dry mouth, arthritis

A

sjogren syndrome ( autoimmune destriction of exocrine glands)

111
Q

urethritis, conjunctivitis, arthritis in male

A

reactive arthritis w/ HLA B27

112
Q

cervical lymphadenopathy, desquam rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

A

kawasaki disease (mucocutaneous lymph node syndrome, treat w/ IVIG + aspirin)

113
Q

palpable purpura on butt/legs, joint pain, abd pain (child), hematuria

A

immunoglobulin A vasculitis (Henoch-schonlein purpura, affects skins + kidneys)

114
Q

dark purple skin/mouth nodules in AIDS+

A

kaposi sarcoma HHV8

115
Q

pruritic, purple, polygonal planar papules & plaques

A

lichen planus
sawtooth inflitrate of lymphcytes at dermal-epidermal junction. associated HepC

116
Q

ataxia, nystagmus, vertigo, dysarthria,

A

cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial & proximal movement)

117
Q

hyperphagia, hypersex, hyperoral

A

Kluver-Bucy (b/l amygdala lesion)

118
Q

lucid interval s/p TBI

A

epidural hematoma (MMA rupture, branch of maxillary artery off external carotid)

119
Q

worst headache of life

A

subarachnoid hemorrhage

120
Q

dysphagia, horseness, no gag reflex, nystagmus, i/l horner syndrome

A

lateral medullary syndrome (PICA lesion)

121
Q

resting tremor, ridigidty, akinesia, postural instability, shuffling gait, micrographia

A

parkinson disease (loss of dopaminergic neurons in SN pars compacta)

122
Q

chorera, dementia, caudate degeneration

A

huntington disease (AD CAG repeat expansion)

123
Q

urinary incontine, gait apraxia, cognitive dysfxn

A

normal pressure hydrocephalus

124
Q

nystagmus, intention tremor, scanning speech, b/l internuclear opthalmoplegia

125
Q

rapidly progressive limb weakness that ascends 2/2 GI/URI

A

guillan-barre (ascending flaccid paralysis, demyelinating)

126
Q

cafe-au-lait spots, lisch nodules of iris, cutaneous neurofibromas, pheochromo, optic gliomas

A

NF 1, ch17

127
Q

port wine stain on face

A

nevus flammeus (benign, assoc w/ Sturge-Weber syndrome)

128
Q

RCC b/l, hemiangiblastoma, angiomatosis, pheochrmo

A

VHL (deletion of VHL 3p)

129
Q

b/l vestibular schwannomas

A

NF2, chr 22, merlin

130
Q

hyperreflexia, hypertonia, Babinski, spastic parylasis

131
Q

hypotonia, hyporeflexia, fasciculations, atrophy,

132
Q

flaccid limb weakness, fasciculations, atrophy, bulbar palsy

133
Q

staggering gait, frequent falls, nystagmus, hammer toes, DM, hypertrophic cardiomyopathy

A

Fredrick Ataxia (GAA trinucleotide repeat)

134
Q

u/l facial droop spares forehead

A

UMN lesion or cortex area infarct

135
Q

episodic vertigo, tinnitus, sensorineural hearing loss

A

Meniere disease

136
Q

ptosis, miosis, anhidrosis,

A

Horner’s syndrome (cervical chain ganglia)

137
Q

conjugate horizontal gaze palsy, horizontal diplopa

A

internuclear ophthalmopelgia (damage to MLF)

138
Q

waxing/waning level of consciousness (acute onset), dec attention span, dec level of arousal

A

delirium (2/2 other causes0

139
Q

polyuria, RTA 2, growth retardation, electrolyte changes, hypoPO34- rickets

A

fanconi syndrome (multiple combined dysfxn of the PCT)

140
Q

perioribital/peripheral edema, proteinuria (3.5+/day), hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome:
1. nodular glomerulosclerosis “kimsel-weil” body
2. focal segmental glomerulosclerosis
3. minimal change disease “effacement”
4. membraous nephropathy “spike & dome”
5. amyloidosis

141
Q

hereditary nephritis, sensoirneural hearing loss, retinopathy, lens dislocation

A

alport syndrome (type 4 collagen mutation)

142
Q

wilms tumor, marcoglossia, organomegaly, hemihyperplasia, omphalocele

A

Beckwidth-Wiedmann syndrome (WT2 mutation0

143
Q

streak ovaries, congential heart disease, horseshoe kidney, cystic hygroma, short, webbed neck, lyphmedema

A

turner syndrome (45, XO)

144
Q

red, itchy, swollen rash nipple/areola

A

Paget disease of breast (underlying carcinoma)

145
Q

ovarian fibroma, ascites, pleural effusion

A

Megs syndrome

146
Q

fibrous plauqes in tunica albuginea of penis w/ abnormal curvature

A

peyronie disease (CT disorder)

147
Q

hypoxemia, polycythemia, hypercapnia

A

chronic bronchitis (hypertrophy and hyperplasis of mucous cells, blue bloater)

148
Q

pink complexion, dyspnea, hyperventilation

A

emphysema, “pink puffer”
centriacinar> smoker
panaciner> A1A def

149
Q

b/l hilar adenopathy, uveitis

A

sarcoidosis (noncaseating granulomas)

UWorld Review Incorrects (12 decks)

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