Rapid Review Presentations Flashcards

1
Q

Abdominal pain, ascities, hepatomegaly

A

Budd-Chiari syndrome (post hepatic venous thrombosis)

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2
Q

Achilles tendon xanthoma

A

familial hypercholesterolemia (low LDL Recptor signaling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

marfans syndrome (fibrillin defect)

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5
Q

athelete with polycythemia

A

epo injections

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6
Q

back pain, fever, night sweats, weight loss

A

Pott’s Disease (vertebral TB)

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7
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis

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8
Q

blue sclera

A

Osteogenesis inperfecta (type I 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 enlargment, arthritis

A

Paget’s disease of bone (high blast and clast activity)

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11
Q

Bounding pulses, diastolic heart murmor, head bobbing

A

aortic regurg

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12
Q

Butterfly facial rash, raynaud’s phenomenon in a young female

A

SLE

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13
Q

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

A

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

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14
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

NFI (+pheo, optic gliomas)

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15
Q

Calf pseudohypertrophy

A

muscular dystrophy (more commonly Duchenne’s), X-linked recessive

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16
Q

Cherry-red spot on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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17
Q

chest pain on exertion

A

angina (moderate excersion induced = stable, minimal exercion = unstable)

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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)

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19
Q

child uses arms to stand up from squat

A

gower’s sign, duchenne muscular dystrophy

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20
Q

child with fever later develops red rash on face that spreads to body

A

“slapped cheeks”. erythema infectiosum/fifth disease: parvovirus B19

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s diseaes (CAG repeat, Autodom)

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22
Q

chronic exercise intolerance with myalgia, fatigue, painful cramps, myglobinuria

A

McArdle’s disease (glycogen phosphorylase deficency)

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23
Q

cold intolerance

A

hypothyroidism

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24
Q

conjugate lateral gaze palsy, horizontal diplopia

A

internuclear opthalmoplegia (damage to the MLF. bilateral=MS, unilateral=stroke)

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25
Q

continuous machinery heart murmor

A

PDA (give indomethacin)

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26
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (hypothyroidism, or graves disease)

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27
Q

Dark purple skin/mouth nodules

A

Kaposi sarcoma (AIDS patients with HHV8)

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28
Q

deep labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis sign)

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29
Q

dermatitis, dementia, diarrhea

A

Pellagra (niacin aka B3 deficiency)

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30
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi (thiamin aka B1 def)

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31
Q

dog or cat bite infxn

A

Pasteurella multocida

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32
Q

dry eyes, dry mouth, arthritis

A

Sjögren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) this is basically idiopathic inability to swallow + Fe deficency

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34
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

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35
Q

enlarged and hard left supraclavicular node

A

abdominal metastasis. Virchow’s node

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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37
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

Fat, female, forty, and fertile

A

cholelithiasis (gallstones)

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39
Q

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

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release, can be of any bacteria)

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40
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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41
Q

fever, night sweats, weight loss

A

b symptoms (staging) lymphoma

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42
Q

fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

what step of collagen synthesis is defective in Ehlers-Danlos syndrome?

A

cross-linking

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44
Q

what is osteogenesis imperfecta?

A

“brittle bone disease” messed up type I collagen.

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45
Q

4 signs of osteogenesis imperfecta

A
  • multiple fractures within minimal trauma
  • blue sclera
  • hearing loss (middle ear bones)
  • dental imperfections due to lack of dentin
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46
Q

Alports syndrome collagen type and organ systems

A

4 collagen: kidney, ears, and eyes

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47
Q

gout, mental retardation, self-mutilation in a boy

A

Lesch-Nyhan syndrome (HGPRT deficency)

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48
Q

green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (coper accumulation in Wilson’s disease)

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49
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hand

A

Peutz-Jeghers syndrome (inherited benign polyposis that can cause bowel obstruction and risk of cancer)

50
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

51
Q

Hereditary nephritis, sensorineural heraing loss, cataracts

A

Alports syndrome

52
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kulver-Bucy syndrome (bilateral amygdala lesion)

53
Q

hyperreflexia, hypertonia, babinski sign present

A

UMN damage

54
Q

hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

55
Q

hypoxemia, polycythemia, hypercapnia

A

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

56
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis)

Painful with exudate: chancroid (Haemophilus ducreyi)

57
Q

Infant with cleft lip/palat, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau’s syndrome (trisomy 13)

58
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

59
Q

Infant with hypoglycermia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

60
Q

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

A

Edwards syndrome (trisomy 18)

61
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

62
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans (Lymes disease Borrelia burgifor)

63
Q

LUcid interval after traumatic brain injury then loss of consciousness

A

Epidural hematoma (middle meningeal artery rupture)

64
Q

male childe, recurrent infections, no mature B cells

A

Bruton’s disease (x-linked agammaglobulinemia)

65
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia (defect in plate agg cuz no GpIIb/IIIa)

66
Q

muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

67
Q

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

A

Gardner’s syndrome (type of Familial Adenomatous Polyposis)

68
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease (lysosomal alpha-1,4 glucosidase deficiency)

69
Q

Neonate with arm paralysis following difficult birth

A

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

70
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

71
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

72
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or high ICP)

73
Q

Painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, or infectious mononucleosis)

74
Q

painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospasm of extremities seen in SLE or drug induced)

75
Q

Painful raised red lesions on pad of fingers/toes

A

oslers node (infective endocarditis, immune complex deposition)

76
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis,septic emboli/microabscesses)

77
Q

painless jaundice

A

cancer of pancreatic head obstructive the bile duct

78
Q

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

A

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

79
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant)

80
Q

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

81
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer” emphysema: centriacinar (smoking), panacinar (alpha1-antitrypsin def)

82
Q

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

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

83
Q

pruritic, purple, polygonal planar papules and plaques

A

Linchen planus

84
Q

ptosis, miosis, anhidrosis

A

horners syndrome (sympathetic chain lesion)

85
Q

pupil accomodates but doesn’t react

A

argylll robertson pupil (neurosyphilis)

86
Q

praidly progressive leg weakness that ascends following GI/upper respiratory infxn

A

Guillain_barre syndomre (campylobacter most commonly)

87
Q

rash on palms and soles

A

CARS: Coxsackie A, Rocky Mountain spotted fever (Rickettsii), Secondary Syphilis

88
Q

recurrent colds, unusual ecema, higher serum IgE

A

Hyper-IgE syndrome (job’s syndrome, neutrophil chemotaxis abnormality)

89
Q

Red “currant jelly” sputum in alcoholics or diabetic patients

A

Klebsiella pneumoniae

90
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

91
Q

red, itchy, swollen rash of nipple

A

Paget’s disease of breast (neoplasm)

92
Q

red urine in morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

93
Q

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

Von Hippel-Lindau disease (autosomal dominant)

94
Q

resting tremor, rigidity, akinesia, postural instability

A

Parkinsons (nigrostriatal dopamine depletion)

95
Q

retinal hemorrhage with pale centers

A

roth spots seen in bacterial endocarditis

96
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

97
Q

severe RLQ pain with palpation of LLQ

A

acute appendicitis

98
Q

severe RLQ pain with rebound tenderness

A

appendicits

99
Q

short stature, increase tumors/leukemia, aplastic anemia, hypoplastic thumbs

A

Fanconi anemia (loss of DNA-crosslink repair, progresses to AML)

100
Q

single palmar crease

A

simian crease (Down syndrome)

101
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (cilia dynein arm defect)

102
Q

agenisis of vas deferens bilaterally

A

cystic fibrosis

103
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease (1 adrenocortical insufficiency causes high ACTH and alpha-MSH)

104
Q

slow progressive muscle weakness in boys

A

Beckers muscular dystrophy, less severe than duchennes

105
Q

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

A

Koplik spots (measles, rubeola virus)

106
Q

smooth, flat, moist, painless white lesions on genitals

A

condylomata lata (secondary syphilis)

107
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

108
Q

“strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

109
Q

streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45, XO)

110
Q

sudden swollen/painful big toe joint, tophi

A

gout/podagra

111
Q

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

A

Scurvy (vitamin C def: cant hydroxylate proline/lysine for collagen synthesis)

112
Q

swollen, hard painful finger joints

A

osteoarthritis

113
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic valve stenosis

114
Q

thyroid, parathyroid, pheochromo tumors

A

MEN2A (ret gene)

115
Q

thyroid tumor, pheo, ganglioneuromatosis

A

MEN2B (ret gene)

116
Q

unilateral facial drooping involving forehead

A

facial nerve (7)

117
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis (HLA-B27)

118
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign but associated with Sturge-Weber syndrome)

119
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholics, bulimics, anorexic purgers)

120
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

121
Q

Worse headache of my life

A

subarachnoid hemorrhage