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USMLE® Step 1 flashcards
0
Q

Achilles’ tendon xanthoma

A

Familial hypercholesterolemia (decr LDL receptor signalling)

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1
Q

Abdo pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Adrenal haemorrhage, hypoTN, DIC

A

Waterhouse-friderichsen syndrome (meningococcemia

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3
Q

Arachnodactaly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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4
Q

Athlete with polycythemia

A

Secondary to EPO injection

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5
Q

Back pain, fever, night sweats, weight loss

A

Potts disease - vertebral granulomas

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6
Q

bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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7
Q

Blue sclera

A

Osteogenesis imperfecta (type 1 collagen defect)

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8
Q

Bluish line on gingiva

A

Burton’s line - lead poisoning

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9
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of the bone (incr osteoblastic and osteoclastic activity)

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10
Q

bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation

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11
Q

Butterfly facial rash and Raynaud’s phenomenon in a young female

A

SLE

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12
Q

Cafe-aulait spots, lisch nodules

A 
Lisch nodules (iris hamartoma)
neurofibromatosis - type 1 (+phaeochromocytoma, optic gliomas)
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13
Q

Cafe-au-lait spots, polyostotic fibrous dysplasias, precocious puberty, multiple endocrine abnormalities

A

Mccune Albright syndrome (mosaic G-protein signalling mutation)

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14
Q

Calf pseudohypertrophy

A 
Muscular dystrophy (most commonly duchennes)
X-linked recessive deletion of dystrophin gene
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15
Q

Cherry-red pot on macula

A

Tay-sachs (ganglioside accumulation) or Niemann-Pick (Sphingomyelin accumulation), central retinal artery occlusion

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16
Q

Chest pain on exertion

A

Angina - stable; with moderate exertion

unstable; with minimal exertion

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17
Q

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

A

Dressler’s syndrome (AI mediated post-MI fibrinous pericarditis. 1-12 weeks after ACS)

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18
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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19
Q

Child with fever develops red rash on face that spreads to body

A

Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)

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20
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal dominant CAG repeat expansion)

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21
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle’s disease (muscle glycogen phosphorylase deficiency

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22
Q

Cold intolerance

A

hypothyroidism

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23
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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24
Q

Continuous machinery heart murmur

A

PDA (close with indomethacin)

open or maintain with misoprostol

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25
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypotyroidism, Graves’ disease (pretibial)

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26
Q

Dark purple skin, mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients: associated with HHV8)

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27
Q

Deep, labored breathing/hyperventilation

A

kussmaul breathing (diabetic ketoacidosis)

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28
Q

Dermatitis, dementia, diarrhoea

A

Pellagra (niacin B3 deficiency)

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29
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beri beri - vit B1 deficiency

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30
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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31
Q

Dry eyes, dry mouth, arthritis

A

Sjögren’s syndrome (autoimmune destruction of exocrine glands)

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32
Q

Dysphagia (esophageal webs) glossitis, iron deficiency anaemia

A

Plummer-Vinson syndrome –> may progress to oesophageal SCC

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33
Q

Elastic skin, hypermobility of joints

A

Ehlers Danlos Syndrome (Type III collagen defect)

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34
Q

Enlarged, hard left supraclavirular node

A

Virchow’s node (abdo metastases - stomach, pancreas)

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35
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

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36
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcaemia)

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37
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

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38
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

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39
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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40
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of Lymphoma

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41
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (CT disorder)

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42
Q

Gout, mental retardation, self-mutilating behaviour in boy

A

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

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43
Q

Green-yellow rings around peripheral cornea

A

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

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44
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction)

incr cancer risk (mainly GI)

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45
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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46
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation of alpha chain of collagen IV)

47
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-bucy syndrome (bilateral amygdala lesion)

48
Q

Hyperreflexia, hypertonia, babinski sign present

A

UMN damage

49
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

50
Q

hypoxemia, polycythaemia, hypercapnia

A

“blue bloater” chronic bronchitis, hyperplasia of mucous cells

51
Q

Indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilus, treponema pallidum)

painful, with exudate: chancroid (haemophilus ducreyi)

52
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactaly, cutis aplasia

A

Patau’s syndrome (trisomy 13)

53
Q

Infant with failure to thrive, hepatosplenomegaly and neurodegeneration

A

Niemann-pick disease (genetic sphingomyelinase deficiency)

54
Q

Infant with hypoglycemia, failure to thrive and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

55
Q

Infant with microcephaly, rocker-bottom feet, clenched hands and structural heart defect

A

Edwards’ syndrome (trisomy 18)

56
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction of biliary tree)

57
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (lymes disease: Borrelia)

58
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

59
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinaemia)

60
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia (defect in platelet aggregation d/t lack of GP2b3a)

61
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

62
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner’s syndrome (subtype of FAP)

63
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease (lysosomal alpha1,4-glucosidase deficiency

64
Q

Neonate with arm paralysis following difficult birth

A

Erb-duchenne palsy (superior trunk C5-6 brachial plexus injury: “waiter’s tip”)

65
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

66
Q

Oscillation slow/fast breathing

A

Cheyne-stokes respirations (central apnea in CHF or Incr ICP)

67
Q

Painful blue fingers/toes, haemolytic anaemia

A

Cold agglutinin disease (AI haemolytic anaemia caused by mycoplasma pneumonia, infectiuos mononucleosis)

68
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon - vasospasm in extremity

69
Q

Painful raised red lesion on pad of fingers or toes

A

Osler’s node (infective endocarditis, immune complex deposition)

70
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

71
Q

Painless jaundice

A

cancer of the head of pancreas obstructing bile duct

72
Q

palpable purpura on buttocks/legs, joint pain, abdo pain (child), haematuria

A

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

73
Q

Pancreatic, pituitary, parathyroid tumours

A

MEN1 (autosomal dominant)

74
Q

Periorbital and or peripheral oedema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

PHAROH

75
Q

Pink complexion, dyspnoea, hyperventilation

A

“Pink puffer”

emphysema - centriacinar - smoking. Panacinar - alpha1-antitrypsin deficiency

76
Q

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphataemic rickets

A

Fanconi syndrome (proximal tubular reabsorption defect

77
Q

Positive anterior drawer sign

A

anterior cruciate ligament injury

78
Q

pruritic, purple, polygonal planar papules and plaques

A

6Ps Lichen planus

79
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

80
Q

pupil accommodates but doesnt react

A

Argyll Robertson pupil (neurosyphilis)

81
Q

Rapidly progressive leg weaknes that ascends following GI or upper resp infetion

A

Guillian-barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

82
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis or Rocky Mountain spotted fever

83
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper IgE syndrome (Job’ syndrome: neutrophil chemotaxis abnormality)

84
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

85
Q

Red “currant jelly” stools

A

Acute mesenteric ischaemia - adults

intussusception - infants

86
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast

reprsents underlying neoplasm

87
Q

Red urine in the morning, fragile RBC’s

A

Paroxysmal nocturnal haemoglobinuria

88
Q

Renal cell carcinoma (bilateral, hemangioblastomas, angiomatosis, phaeochromocytoma

A

von Hippel Lindau disease

  • dominant tumour suppressor gene mutation
89
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

90
Q

Retinal haemorrhages with pale centres

A

Roth’s spots - bacterial endocarditis

91
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinaemia)

92
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing’s sign - acute appendicitis

93
Q

Severe RLQ pain with rebound tenderness

A

Mcburney’s sign - appendicitis

94
Q

Short stature, incr incidence of tumours/leukaemia, aplastic anaemia

A

Fanconi’s anaemia

genetic loss of DNA cross link repair; often progresses to AML

95
Q

single palmar crease

A

Simian crease - Down Syndrome trisomy 21

96
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome

dynein arm defect affecting cilia

97
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease

primary adrenocortical insufficiency causes incr ACTH and incr alpha-MSH production

98
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy

- X linked missense mutation in dystrophin; less severe than duchennes

99
Q

small, irregular red spots on buccal/lingual mucosa with blue-white centres

A

Koplik spots

- measles; rubeolar virus

100
Q

smooth, flat, moist, painless white lesions on genitals

A

condylomata lata - secondary syphilis

101
Q

splinter hemorrhage in fingernails

A

bacterial endocarditis

102
Q

Strawberry tongue

A

Scarlet fever, kawasaki disease, toxic shock syndrome

103
Q

Streak ovaries, congenital hear disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner’s syndrome 45XO

104
Q

Sudden swollen painful big toe joint, tophi

A

Gout + podagra - hyperuricaemia

105
Q

swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

Scurvy

Vitamin C deficiency - cannot hydroxylate proline/lysine for collagen synthesis

106
Q

Swollen, hard, painful finger joints

A

Osteoarthritis - osteophytes on PP (bouchard’s) and DIP (herberden’s nodes)

107
Q

Systolic ejection murmur

A

crescendo-decrescendo murmur

Aortic valve stenosis

108
Q

Thyroid and parathyroid tumours, phaeochromocytoma

A

MEN 2A - autosomal dominant ret mutation

109
Q

thyroid tumours, phaeochromocytoma, ganglioneuromatosis

A

MEN 2B - autosomal dominant ret mutation

110
Q

Toe extension/fanning upon plantar scrape

A

Banbinski sign - UMN lesion

111
Q

Unilateral facial drooping involving forehead

A

facial nerve LMN CNVII palsy

112
Q

Urethritis, conjunctivitis, arthritis in male

A

Reactive arthritis associated with HLA B27 + STI

113
Q

Vascular birthmark (port-wine stain)

A

Hemangioma - benign but associated with Sturge-weber syndrome

114
Q

Vomitting blood following gastrooesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

115
Q

weight loss, diarrhoea, arthritis, fever, adenopathy

A

Whipple’s disease - tropheryma whipplei

116
Q

Worst headache of my life

A

subarachnoid haemorrhage

Usmle (4 decks)

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