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USMLE step 1 > classic presentations > Flashcards

classic presentations Flashcards

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USMLE® Step 1 flashcards
1
Q

Lesch - Nyhan syndrome (HGPRT def.)

A
  • x-linked recessive
  • gout
  • intellectual disability
  • self-mutilating behavior in a boy
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2
Q

Kartagener syndrome (dynein arm defect affecting cilia)

A

Triad: situs inversus, chronic sinusitis, bronchiectasis

  • Also: infertility
  • rare, Auto. Recessive
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3
Q

osteogenesis imperfecta (type 1 collagen defect)

A

blue sclera***, easy bruising, fracture with minor trauma, some pts experience deafness by age 40

  • Type 1 is mildest and most common form (COL1A1> COL1A2)
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4
Q

Ehlers-Danlos Syndrome (type V collagen defect, Type 3 collagen defect seen in Vascular subtype of ED)

A
  • elastic skin
  • hypermobility of joints (hypermobile subtype is most common ED)
  • increased bleeding tendency
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5
Q

Marfan syndrome (fibrillin defect)

A
  • mitral valve prolapse
  • aortic dissection
  • retinal detachment (lens dislocation upward or temporal)
  • Fibrillin 1 mutation
  • Arachnodactyly
  • Near-sightedness
  • scoliosis

Also: hyperflexible joints

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6
Q

McCune Albright Syndrome (Gs-protein activating mutation)

A

Triad: Cafe-au-Lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty

GNAS1 somatic mutation

Other: multiple endocrine abnormalities

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7
Q

muscular dystrophy (general/most types)

A

-calf pseudohypertrophy

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8
Q

Duchenne Muscular Dystrophy (most common MD)

A
  • X-linked Recessive
  • frameshift mutation of Dystrophin gene
  • calf pseudohypertrophy
  • Gowers sign: child uses arms to stand up from squat
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9
Q

Becker Muscular Dystrophy

A
  • X-linked
  • non-frameshift deletions of dystrophin gene
  • Less severe than duchenne–> “becker (better) than duchenne”
  • slow, progressive muscle weakness in boys
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10
Q

Patau Syndrome (trisomy 13)

A
  • infant with cleft lip/palate
  • microcephaly or holoprosencephaly
  • polydactyly
  • cutis aplasia
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11
Q

Edwards Syndrome (trisomy 18)

A
  • microcephaly
  • rocker-bottom feet
  • clenched hands
  • structural heart defect

“Edward Cullen met Bella when she was 18”

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12
Q

Down syndrome (trisomy 21)

A

-some degree of intellectual disability

MSK: AA instability** scoliosis, SCFE, hip instability, recurrent patello-femoral dislocations, hyperflexible joints, ligament laxity, hypotonia, large gap between 1st and 2nd toes B/L, single palmar crease, excess nuchal skin, upward slanting eyes, flat nose and face, open mouth with protruding tongue*, short neck

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13
Q

Wet Beriberi (thiamine - Vit B1 deficiency)

A

Dilated cardiomyopathy, edema, alcoholism, malnutrition

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14
Q

Pellagra (niacin- Vit B3 deficiency)

A

dermatitis, dementia, diarrhea (3-Ds)

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15
Q

Scurvy (Vit C deficiency)

A
  • can’t hydroxylate proline/lysine for collagen synthesis
  • swollen gums
  • mucosal bleeding
  • poor wound healing (vit C- low immune defenses)
  • petechiae
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16
Q

McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)

A
  • chronic exercise intolerance w/ myalgia
  • fatigue
  • painful cramps
  • myoglobinuria
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17
Q

Cori disease (debranching enzyme deficiency) or Von Gierke disease (G-6-Pase Deficiency- more severe)

A
  • infant with hypoglycemia

- hepatomegaly

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18
Q

pompe disease (lysosomal a-1,4- glucosidase deficiency)

A
  • myopathy (infantile hypertrophic cardiomyopathy)

- exercise intolerance

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19
Q

“cherry red spots” on macula can be seen in…?

A
  • Tay- Sachs disease (ganglioside accumulation)
  • Niemann-pick disease (sphingomyelin accumulation)
  • central retinal artery occlusion
20
Q

Gaucher disease (glucocerebrosidase ((B-glucosidase def.))

A
  • hepatosplenomegaly
  • pancytopenia
  • osteoporosis
  • avascular necrosis of femoral head
  • bone crises
21
Q

Familial Hypercholesterolemia (dec LDL receptor signaling)

A

-Achilles tendon xanthoma

22
Q

IgA def

A

-anaphylaxis following blood transfusion

23
Q

Bruton disease (x-linked agammaglobulinemia)

A
  • male
  • recurrent infections
  • no mature b cells
24
Q

which congenital heart defects are cyanotic?

A
  • ebstein anomaly
  • Tetralogy of Fallot
  • Tricuspid Atresia
  • Transposition of the great Vessels
  • truncus arteriosus
  • Total anomalous pulmonary venous return

***all the one’s with T + ebstein

25
Q

which congenital heart defects are NOT cyanotic

A
  • ASD
  • VSD
  • PDA
  • Coarctation of the aorta

*** all the ones with acronyms

26
Q

Tetralogy of fallot

A

RV outflow obstruction

Tetrad: VSD, RV hypertrophy, overriding aorta, Pulmonary stenosis

cyanosis
“tet” spells

27
Q

Cardiac tamponade

A

beck triad: hypotension, jugular venous distension, muffled heart sounds

other s/s: reduced PMI, cool extremities, clear lungs

occurs in pericardium

pericardial effusion
due to acute aortic dissection (type A)

28
Q

Hyper IgE syndrome (job Syndrome: neutrophil chemotaxis abnormality)

A

recurrent cold (non-inflamed abscesses); eczema; high serum IgE; inc Eosinophils

29
Q

strawberry tongue is associated w?

A

scarlet fever and kawasaki disease

30
Q

C.difficile infection

A

abd pain; diarrhea; leukocytosis; recent antibiotic use

31
Q

Pott disease (vertebral TB)

A

back pain, fever, night sweats

32
Q

Waterhouse-Friedrichsen Syndome (meningococcemia)

A

adrenal hemorrhage; hypotension, DIC

33
Q

Klebsiella Pneumoniae pneumonia

A

“red currant jelly” sputum in alcoholic or diabetic patients

34
Q

erythema migrans from Ixodes tick bite (Lyme disease: Borrelia burgdorferi)

A

Large rash w/ bulls-eye appearance

35
Q

primary syphilis (Treponema pallidum)

A

Non-painful, indurated chancre (ulcerated genital lesion)

36
Q

Chancroid (haemophilus ducreyi)

A

painful ulcerated genital lesion with exudate

37
Q

Tertiary syphilis (neurosyphilis)

A

Argyle Robertson pupil: pupil accommodates but does not react

38
Q

secondary syphilis

A

condyloma lata: smooth, moist, painless, wart-like white lesions on genitals

39
Q

Jarisch-Herxheimer reaction

A

rapid lysis of spirochetes –> endotoxin-like release
S/S:
- fever
-chills
- HA
- myalgia following antibiotic tx for syphilis

40
Q

pasteurella multocida cellulitis

A

cellulitis at inoculation site from a dog or cat bite resulting in infection

41
Q

Rash on palms and soles is assoc. with what diseases?

A
  • coxsackie A virus
  • secondary syphilis
  • Rocky Mountain spotted fever
42
Q

Black eschar on face of pt with diabetic ketoacidosis (DKA)

A

mucor or Rhizopus fungal infection

43
Q

congenital toxoplasmosis

A
  • chorioretinitis
  • hydocephalus
  • intracranial calcifications
44
Q

Erythema infectiosum (fifth’s disease)

A
  • “slapped cheeks”
  • parvovirus B19
  • child with fever later develops red rash on face that spreads to body
45
Q

measles

A
  • fever
  • cough
  • coryza
  • conjunctivitis
  • diffuse rash

USMLE step 1 (14 decks)

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