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fever, night sweats, weight loss B cell Sx (MTb too isn't it?)

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Mycosis fungoides (cutaneous T cell lymphoma)

skin patches/plaques, pautrier microabscesses,
atypical T cells Mycosis fungoides PLUS malignant blood T cells = Sezary
syndrome

neonate with arm deformity following birth- Upper brachial plexus injury (Erb-Duchenne palsy)- superior
arm extended, protonated, medially rotated,
hanging by side (waiter's tip position) trunk, roots C5-C6
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Paget disease of bone (increased osteoblast and osteoclast USMLE Step 2 CK Flas…
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sudden swollen big toe joint- pain- non monosodium urate crystals (gout)
birefringent crystals

sudden swollen knee, pain, birefringent calcium pyrophosphate (pseudogout)

rhomboid crystals

dry eyes, dry mouth, arthritis; autoimmune Anti Ro (SS-A) and Anti La (SS-B) associated with neonatal
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condition a ecting exocrine glands. SLE
antibodies produced are also associated with Surgery Clerkship an…
what else? Sjogren also leads to parotid MALT and dental carries Memorang
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Urethritis, conjunctivitis, arthritis... what HLA-B27 reactive arthritis (Reiter syndrome)- Shigella,
genetic association? Chlamydia, Yersinia, Chlamydia, Campylobacter, Salmonella

Gonococcal and those with C5-C9 complement de ciencies

STD then septic arthritis- species and who is are very susceptible to this and to Neisseria meningiditis
most susceptible?
(vaccinate them!)

polymyositis: CD8+ endomysial in ammation, proximal

symmetrical muscle weakness (shoulders usually)
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anti-histidyl-tRNA (Jo-1), ANA+, CK elevated, Netter's Anatomy Fla…

anti-signal recognition particle, anti-helicase
(Mi 2)
(Mi-2) Memorang
dermatomyositis: CD4+ perimysial in ammation, similar to
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(/) Quiz  polymyositis PLUS facial stu , eyelid edema!!, shawl and
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facial rash, increased risk of occult malignancy

AKA desmoglein; Pemphigus vulgaris; pos Nikoski (blisted

anti-desmosome
burst)- desmosomal, not at basement

pruritic, purple, polygonal planar papules and Lichen planus- hypergranulosis and sawtooth in ltrate at
plaques dermal-epidermal jct. Assoc w HCV
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increased AFP in amniotic uid or maternal DAT Flashcards for th…

dating error, anencephaly, spina bi da Memorang
serum (di erentials)
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ataxia, nystagmus, vertigo, dysarthria cerebellar lesion

toe expansion/fanning upon foot scrape, Ps ychiat ry

UMN lesion (Babinski +)
hyperre exia, hypertonia Powered by Memo rang

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fasciculations, hypore exia, hypotonia LMN lesion
Lange Q&A Psychiatr…
McGraw Hill
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hyperphagia, hypersexuality, hyperorality -- bilateral amygdala lesion (Kluver-Bucy Syndrome)- HSV-1 FREE
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basically me encephalitis associated

resting tremor, athetosis (slow, involuntary basal ganglia lesion

writhing movements), chorea

lucid interval post traumatic brain injury middle meningeal- fxr btwn skull and dura mater (epidural)

resting tremor, akinesia, postural instability, substantia nigra compacta has lost dopaminergic neurons
shu e (Parkinson)

Huntington, AD CAG repeat expansion, classic anticipation

Chorea, dementia- disease, location, genetics?
example, caudate nucleus degeneration

scanning speech, nystagmus, intentional

MS
tremor

ascending and rapid paralysis following GI infx acute in ammatory demyelinating polyradiculopathy
or URT infx (Guillain-Barre)

Cafe Au Lait Spots, iris hemartoma, cutaneous NF1- Chromosome 17 NF1 tumor suppressor gene mutation-
bromas, optic gliomas, pheochromocytomas 100% penetrance AD

juvy cataracts, bilateral schwannomas, NF2- tumor suppressor gene (NF2) mutated on Chromosome
meningiomas, ependymomas 22; encodes neuro brin, a negative RAS regulator

nevus ammus, V1/V2 distribution, tram-track encephalotrigeminal angiomatosis (aka Sturge-Weber),

calci cations on opposing gyri, glaucoma, somatic mosaicism in one copy of GNAQ gene, anomaly of
epilepsy--> what's the gene, embryological
derivative, and name neural crest derivatives

Hamartomas of CNS and skin, angio bromas,
MV Regurg, Ash Leaf Spots and Shagreen
patches, Rhabdomyoma (cardiac)--> genes,
expression, name, and complicative risk?
hemangioblastomas in retina, brainstem,
tuberous sclerosis, TSC1 mutations (Ch9) or TSC2 mutation
(Ch16), ^ incidence of subependymal giant cell astrocytomas
and ungual bromas; AD
cerebellum, spine (highly vascular with
hyperchromic nuclei);(/)pheochromocytomas,
Quiz 
Renal Cell CA-bilateral; angiomatosis
unilateral facial dropping involving forehead
episodic vertigo, tinnitus, loss of hearing
ptosis, anhidrosis, miosis
conjugate horizontal gaze palsy; horizontal
diplopia
polyuria, renal tubular acidosis type 2, lyte
imbalances, hypophosphatemic rickets, growth
failure
athlete with polycythemia
hereditary nephritis, sensorineural loss, lens
dislocation, retinopathy
lens dislocation (di erentials)
red, itchy, swollen aereola
brous plaques in soft tissue of penis with
abnormal curvature- disease and what is it
similar to?
hypoxic, polycythemic, hypercapnic
pink complexion, dyspnea, hyperventilation
skin lesions on face (lupus like), uveitis,
erythema nodosum (painful lumps, usually
lower legs), hilar and mediastinal
lymphadenopathy, non caseating granulomas
rheumatoid arthritis with intrapulmonary
nodules
Thrombocytopenia, Leukopenia, elevated liver
enzymes, muscle aches, headache- nding on
blood smear, species, vector?
Pheochromocytoma de nitive tx
Shortened digits, space between digits 3 and 4,
deletion of VHL gene on Chrom 3p causing failure to pVHL to
ubiquinate hypoxia inducible factor 1a (??wtf); AD
LMN CNVII palsy (UMN spares the forehead)
increased endolymph (Menieres)
horner syndrome (sympathetic chain lesion)- can involve
Pancoast/apical lung tumors
internuclear ophthalmoplegia (damage to MLF- can be
unilateral or bilateral)
Fanconi syndrome (multiple combined dysfunction of PCT)
EPO injections
mutation in connective tissue T4 (Alport syndrome)
Marfan (upward), Homocysteinuria (downward), Alport...
connection? all have fucked connective tissue
Paget disease of breast- underlying neoplasm
Peyronie disease; palmar brosis-->Dupuytren's contracture ;
both connective tissue diseases causing contractures
pulmonary mucosal cell hyperplasia: Chronic Bronchitis
imbalance of protease and antiprotease leads to alveolar
wall destruction in emphysema (increased elastase with loss
of elastic bers). Panacinar-alpha 1 antitrypsin de ciency
(liver disease also) vs centriacinar- smoking relation
sarcoidosis- more common in black middle aged women,
ndings: elevated ACE (not diagnostic), elevated CD4/CD8
ratio in bronchioalveolar lavage; associated with Bell Palsy;
tx sx with steroids
likely Caplan syndrome (associate with pneumoconioses and
RA)
Erlichia; mulberry inclusions (morula), lone star tick in SE and
Midwest and south central states
Surgical resection. FIRST, must administer alpha and beta
blockade, but always alpha initially to prevent beta blocker
from causing uninhibited vasoconstriction. - give
phenoxybenzamine (block alpha 1) - then give propanolol,
metoprolol, etc - then operate
mid face hypoplasia, shortened proximal limbs, FGFR3 mutation, usually de novo, achondroplasia
genu varum (/) Quiz 

HGPRT def (XLR)

Gout, self mutilation, male, intellectual
disability Leisch Nyhan

dyenin defect with cytoskeleton

pseudohypertrophy of calf; gower's sign muscular dystrophy- Duchenne: XLR frameshift mutation of
dystrophin gene

dyenin defect with cytoskeleton

slow, progressive muscle weakness in boy muscular dystrophy- Beckers: XLR, NON frameshift
dystrophin gene mutation- thus, less severe

brillin defect- glycoprotein secreted by broblasts to be

arachnodactyly, hyper exible joints, UPWARD
lense dislocation (versus homocysteinuria- is sca old for elastin
downward), aortic dissection
Marfan
Assymetrical growth d/t weak bones Gs-protein activating mutation, GNAS gene mutations
(polyostotic brous dysplasia), UNILATERAL
café au leit spots- upper back and buttocks messes up alpha subunit
resemble "coast of maine", precocious
puberty, multiple endocrine abnormalities McCune Albright syndrome

T5 collagen defect, with vascular type 3 collagen defect

hypermobility of joints with elastic skin
(subtypes including ^bleeding)
Ehlers-Danlos

infant with: cleft lip/palate, microcephaly or

holoprosencephaly, polydactyly, cutis aplasia Trisomy 13- Patau
(sections of skin missing)

infant with microcephaly, rocker bottom feet, Trisomy 18- Edwards

clenched hands, structural heart defects (PDA,
ASD, VSD), omphalocele, esophageal atresia MC signs in utero are the heart defects (VSD,ASD,PDA) and
possible cranial defects- choroid plexus cysts

DCM, edema, alcoholic Wet Beri-beri, thiamine (B1) de ciency

dermatits, dementia, diarrhea Pellegra, niacin (B3) de ciency

inability to hydroxylate proline/lysine for collagen synthesis

swollen gums, poor wound healing, petechia
Scurvy- VitC de ciency

skeletal muscle glycogen phosphorylase de ciency

chronic exercise intolerance with myalgia,
fatigue, cramps, transient myoglobinuria
McArdle Disease

debranching enzyme de ciency- Cori Diseases OR...

Infact with hypoglycemia and hepatomegaly
G6Phosphatase de ciency (more severe)- Von Gierke OR...

infantile HCM, exercise intolerance lysosomal alpha 1,4 glucosidase de ciency- Pompe

ganglioside accumulation (no hepatomegaly)- Tay Sachs

sphingomyelin accumulation (hepatomegaly present)-

cherry red spots (3 di erentials)
Neiman Pick

central retinal artery occlusion

hepatospenomegaly, bone crisis,
pancytopenia, osteoporosis, avascular necrosis
of femoral head (much like with medial glucocerebroside accumulation- Gauchers
circum ex artery lesions)- tissue paper cells-
lipid laden macros
golgi can't phosphorylate mannose residues on
gargoyle like facies, clouded corneas, high
l l fl l i
levels of lysosomal enzymes in serum- may see glycoproteins d/t NAG1-phsophotransferase defect
inclusions in cells, gingival hyperplasia, claw
hand deformity (/) Quiz 
ICELL disease aka mucolipidosis Type2

familial hypercholesterolemia (decreased LDL receptor

achilles tendon xnathoma
signaling)

anaphylaxis post transfusion IgA de ciency

male child w recurrent infections, no mature BTK gene defect- brutons a-gammaglobulinemia (XLR)
Bs

STAT3 hyper IgE syndrome- AR

recurrent cold (non in amed) abscesses, abn neutrophil chemotaxis d/t decreased INF gamma by T
eczema, eosinophilia, failure to lose primary
teeth, facial abnormaility lymphs is presumed cause (so would you elevated
neutrophils also d/t failure of migration?)

scarlet fever

strawberry tongue (2 di erentials) kawasaki disease- mucocutaneous lymph node syndrome-

med size vessel vasculitis

recent abx use, foul diarrhea d/t exudate

caused by enterotoxin and cytoxin (toxin A and pseudomembranous colitis d/t C di
B respectively)

back pain, fever, night sweats vertebral tb (Pott disease)

adrenal hemorrhage or sx suggesting, plus

meningococcemia, waterhouse-freidrichson syndrome
hypotension, DIC

red current jelly spt in alcoholics or diabetics klebsiella pneumo

1) pain with excudate: chancroid- H ducryei

ulcerated genital lesion- di erentals (2)
2) painless, indurated: chancre (1 deg tryponema)

primary- chancre- indurated and painless lesion

secondary- condolyma lata-wart like, painless, smooth

stages of syphilis
genital lesions and rash all over including palms and soles

teriary- argyl robertson pupil: no reactivity but accomodation

fever, chills, headache, myalgia, recent tx for jarish-herxheimer rxn dt endotoxin like release from dead
syphilis spirochetes

Pasteurella multocida- non motile, gram negative, cocco-

dog or cat bite- infx
bacillus, penicillin sensitive

2ndary syphilis, cocksackie A (RNA pos sense, naked, icos),

palms and soles rash- 3 di ricketsia ricketsii (american dog tick, obligate intracellular,
tetracyclines to tx)

probably DKA or possibly neutropenic

black eschar on face....
Mucor or Rhizopus

chorioretinitis, intracranial calci cations,

maternal kitty litter disease- congenital toxoplasmosis
hydrocephalus

parvovirus B19 ssDNA, naked, icos, +se

child w fever later develops facial rash that
child w fever later develops facial rash that
spreads to body--> aplastic crisis in sickle cell; arthralgia in adults
(/) Quiz 
Paramyxovirus, rubeola- Measles- ssRNA, -se, helical,
fever, cough, conjunctivitis, coryza (nasal enveloped
in ammation), di use rash, skin association
and disease... koplik spots- small irregular spots with blue-white centers on
oral mucose

aortic regurgitation
wide PP, bounding pulses, diastolic murmur,
bobbing head
decrescendo diastolic (after S2)

aortic stenosis
systolic ejection murmur; older person
syncopal
crescendo-decrescendo (S1-S2)

PDA- best heard infraclavicular

assoc w downs, trisomy 18, congenital rubella or prematurity

continuous machine like murmur
close with indomethacin (blocks PGE), maintain patency with
PGE analogue- ie alprostadil)

negaive troponins: angina

di for ST depression w CP
pos troponins: NSTEMI

pericardial e usion, fever, CP, post MI dressler syndrome- brinous pericarditis 2w-2mos post MI

painful, raised red lesions on pads of infectious endocarditis: Osler nodes- immune complex
ngers/toes deposition

infectious endocarditis: janeway lesions:

painless lesions on palms and soles
microabscesses/spetic emboli

splinter hemorrhages in ngernails bacterial endocarditis

retinal hemorrhages with pale spots bacterial endocarditis: roth spots

mu ed heart sounds, hypotension, elevated cardiac tamponade- Beck's triad (trauma to chest; wall
JVD rutpure 5-14d post AMI- previous MI protective)

coronary aneurysms, cervical Kawasaki (med sized vasculitis)- aka mucocutaneous lymph
lymphadenopathy, desquamating rash, hand-
foot changes, red conjunctiva node syndrome- tx: ASA and IVIg

palpable purpura on butt and legs, arthralgia, henloch-schlonlein purpura (IgA vasculitis a ecting skin and
hematuria, abd pain kidneys)

recurrent epistaxis, telangiectasias, skin Osler-Weber-Rendu (hereditary hemorhhagic telangiectasia)

discoloration, AVMs, GI bleed, hematuria

1ry adrenocortical insu ciency-> increased ACTH-

skin hyperpigmentation, hypotension, fatigue >^POMC/MSH alpha

chronically- called Addison's disease

cutaneous ushing, diarrhea, bronchospasm ^5-HIAA excreted in ix d/t carcinoid syndrome

cold intolerance, brittle hair, weight gain hypothyroidism

 (/) Quiz 
cutaneous edema d/t deposition of
mucopolysachharides in CT
antithyroid peroxidase (antimitochondrial) and
antithyroglobulin abs
MEN 1 syndrome...
MEN2a syndrome...
MEN2b
dysphagia, glossitis, microcytic anemia
cardiac and neurological sx, arthralgias,
diarrhea/steatorrhea, adenopathy
hamartamous GI polyps, hyperpigmentation of
mouth, feet, hands, genitalia
ABD pain, ascites, hepatomegaly, no JVD
non smoker w dyspnea and cirrhosis with
PAS+globules
severe neonatal jaundice
bluish line on gingiva
short stature, café au lait spots, thumb/radial
defects, aplastic anemia/^risk for
leukemias/tumors
di erentials for aplastic anemia
myxedema (hypoTHY- Grave's- pretibial)
Grave's- IgG vs TSHr- exophthalmos (GAGs) associated with
HLA DR3 and B8- assoc w presentation during stress such as
pregnancy
histo (Graves)- scalloped colloid, crowded/tall epis
hashimoto- iodine de cient autoimmune hypothyroidism
assoc w HLA DR3 DR5; ^ risk of non Hodgkin lymphoma (B
origin)
histo: lymphoid aggregates with germinal centers containing
hurthle cells
pituitary, parathyroid, and pancreatic tumors and associated
sx (menin mutation- AD)
pheochromocytoma, calcitonin secreting medullary thyroid
CA (parafollicular C cells), parathyroid hyperplasia (RET
mutation- codes for receptor tyrosine kinase-AD)
pheochromocytoma, calcitonin secreting medullary thyroid
CA (parafollicular C cells), mucosal neuromas (oral/intestinal
ganglioneuromatosis) and associated w marfanoid habitus
(RET mutation- codes for receptor tyrosine kinase-AD)
Plummer-Vinson Syndrome, esophageal webs, risk of
esophageal sq cell CA
intracellular G+ organism w PAS+ foamy macros in intestinal
lamina propria and mesenteric nodes
Tropheryma whipplei- older male farmers (found in soil and
e ects those with reduced T cell immunity)- Th1, CD11b
(integrin alpha expressing cells)
inherited benign polyposis- can lead to GI CA and cause
obstruction... Peutz Jeghers Syndrome
hepatic centrilobular congestion due to venous compression,
secondary to hepatic v clot- polycythemia vera--> Budd Chiari
Syndrome, nutmeg liver possible/mottled appearance, also
possible result of HCC
Alpha 1 antitrypsin-->uninhibited elastase in lungs--
>panacinar emphysema
congenital unconjugated hyperbilirubinemia (Crigler Najjar)
test for lead (also ALWAYS test with baby/toddler w pica)
DNA repair defect causing BM failure (Fanconi anemia)
parvo/B19 w sickle cell; radiation; drugs (benzene,
antimetabolites, chloramphenicol, alkylating agents);
Fanconi anemia (DNA repair defect); other viral agents (EBV,
HIV, Hep); can also be idiopathic (ie: we have no fucking clue);
PNH associations also
 complement mediated nocturnal hemolysis d/t increased
(/) Quiz  acidemia from nocturnal hypoventilation. acquired PIGA
slight hematuria in mornings gene mutation, decreasing GPI anchor for DAF (CD55).
^incidence of leukemias

Paroxysmal Nocturnal Hematuria

painful blue ngers/toes, hemolytic anemia, Cold agglutinin disease- autoimmune d/t M pneumoniae,
di erentials mononucleosis, or CLL)

vasospasm in response to cold or stress (color changes from

white to blue to red as perfusion diminishes and restores).

Raynaud phenomenon- mechanism, Raynaud disease (primary;idiopathic) vs Raynaud syndrome:

di erentials, and tx MCTD, SLE, limited scleroderma (CREST syndrome-anti-
centromere Ab- sclerodactyly, esophageal dysmotility,
telangiectasia, calcinosis cutis). TX: CCBs

platelet disorders: Glanzmann (aggregation defect- GPIIb/IIIa

petechiae, mucosal bleeding (epistaxis), can't bind), Bernard Soulier (adhesion defect- G1B- can't bind
prolonged bleeding time
vWf: LG Pl, normal to low PLct), HUS, TTP (ADAMTS13), ITP

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