UWorld Journal: Final 2 weeks Flashcards

1
Q

Hep B serum marker for increased infectivity

A

HBeAg

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2
Q

Cheyne-Stokes breathing

A

apnea followed by gradually increasing then decreasing tidal volumes
see in CHF

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3
Q

what is in amniotic fluid with NTDs

A

AFP

acetylcholinesterase

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4
Q

condition from abnormal apoptosis en utero

A

duodenal atresia

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5
Q

vessels damaged in hip fracture → osteonecrosis of femoral head

A

medial femoral circumflex artery

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6
Q

mechanism of urge incontinence

A

overactive bladder

detrusor instability

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7
Q

diff btwn EBV and CMV mono

A

EBV has (+) monospot test (tests for anti-heterophil Abs)

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8
Q

when can you get a fat embolism

A

fractured bone

amputation

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9
Q

stroke w/ nothing on CT

A

ischemic (think lacunar), not hemorrhagic

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10
Q

determining factor in cyanosis in tetralogy of fallot

A

right ventricular outflow tract obstruction

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11
Q

what kind of channel is the CFTR channel in CF?

A

ATP-gated Cl channel

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12
Q

who’s at risk for first dose hTN with ACE inhibitors

A

pts w/ volume depletion (diuretics)

pts w/ CHF

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13
Q

ALL is precursor or mature T/B cells?

A

precursor

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14
Q

things that can trigger prinzmetal angina

A

smoking
cocaine/amphetamines
dihydroergotamine/triptans

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15
Q

when can you get Dressler synd?

A

1 wk to 1 month post MI

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16
Q

chest pain exacerbated by swallowing

A

pericarditis

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17
Q

mechanism of pericarditis 2-4 days most MI

A

inflammatory rxn to cardiac muscle necrosis

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18
Q

normal aging changes in heart

A

decreased LV chamber size (apex to base)
sigmoid-shaped septum
myocardial atrophy w/ more collagen
accumulation of lipofuscin pigment in cardiomyocytes

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19
Q

thyroid: branching papillary structures w/ concentric calcifications

A

papillary thyroid cancer

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20
Q

thyroid: diffuse lymphocytic infiltration w/ formation of germinal centers

A

Hashimoto’s thyroiditis

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21
Q

thyroid: lymphocytic infiltrate w/ macs and multi-nuc giant cells

A

subacute granulomatous (de Quervain) thyroiditis

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22
Q

painful thyroid enlargement after viral illness

A

subacute granulomatous (de Quervain) thyroiditis

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23
Q

fibrous dysplasia of bone
endocrine abnormalities
cafe-au-lait spots

A

McCune-Albright syndrome

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24
Q

tumors of tuberous sclerosis

A
angiomyolipomas
subependymal hamartomas of the brain
cardiac rhabdomyomas
facial angiofibromas
(+ ash-leaf patches)
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25
Q

mechanism of overflow incontinence

A

impaired detrusor contractility

bladder outlet obstruction

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26
Q

thyroid: nests/sheets of polygonal or spindle shaped cells w/ extracellular amyloid deposits

A

medullary thyroid cancer

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27
Q

unilateral hearing loss and tinnitus

recurrent vertigo

A

Meniere disease

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28
Q

Meniere disease pathophys

A

increased volume and pressure of endolymph in vestibular apparatus

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29
Q

best protection against influenza A

A

antibodies against hemagglutinin

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30
Q

what do you cut through for a crichothyrotomy

A

skin
superficial cervical fascia
investing and pretracheal layers of the deep cervical fascia
cricothyroid membrane

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31
Q

what regulates TRH?

A

T3

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32
Q

signs of hyperaldosteronism

A

HTN
hK
metabolic alkalosis
depressed renin

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33
Q

subcutaneous bumps on achilles tendons

A

xanthomas (hyperlipidemia)

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34
Q

when do you see Dohle bodies

A

leukemoid rxn

toxic systemic illness

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35
Q

tx for organophosphate poisoning

A

pralidoxime (both muscarinic and nicotinic effects)

atropine (muscarinic only)

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36
Q

PCP mechanism

A

NMDA receptor antagonist

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37
Q

stroke after DVT

A

paradoxical embolism (w/ patent foramen ovale, ASDs, VSDs, pulm AV malformations)

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38
Q

fixed split S2

A

ASD

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39
Q

proximal muscles in Duchenne

A

early: hypertrophy of calves
late: muscle fibers replaced by fat and CT (pseudohypertrophy)

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40
Q

spinal levels a/w cauda equina syndrome

A

S2 - S4

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41
Q

different forms of aspergillosis infection

A

opportunistic/invasive: immunocomp
colonizing: aspergilloma in TB cavities
hypersensitivity/allergic: asthma pts

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42
Q

cells/cytokines in granuloma formation

A

TH1s make IL-2 and IFN-gamma → TH1 proliferation and mac activation

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43
Q

lucid interval followed by loss of consciousness

A

epidural hematoma

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44
Q

CSF of aseptic meningitis

A

lymphocytic pleocytosis
modestly elevated protein
normal glucose

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45
Q

prolonged QT and neurosensory deafness

A

Jervell and Lange Nielsen syndrome

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46
Q

whats in Thayer-Martin medium

A

vancomycin
colistin (polymyxin)
nystatin
trimethoprim

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47
Q

hTN, pulsus paradoxus, JVD

A

cardiac tamponade

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48
Q

properties of drugs processed by the liver

A

lipophilic

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49
Q

non-fusion of urethral folds in males →

A

hypospadias

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50
Q

malunion of the labioscrotal folds →

A

bifid scrotum

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51
Q

precursor proteins/peptides responsible for localized amyloidosis

A
cardiac atria: ANP
thyroid gland: calcitonin
panc islets: islet amyloid protein (amylin)
cerebrum: beta-amyloid protein
pit: prolactin
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52
Q

meconium ileus associated d/o

A

CF

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53
Q

when do you use continuous vs pulsatile GnRH

A

continuous: prostate cancer, endometriosis, precocious puberty, premeno breast cancer
pulsatile: infertility

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54
Q

D-xylose tests for…

A

pancreatic vs intestinal malabsorption

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55
Q

what does sorbitol usually become?

A

fructose

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56
Q

which ligament contains the ovarian artery?

A

suspensory ligament of the ovary (infundibulopelvic ligament)

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57
Q

what is ligated to prevent heavy bleeding in an oophorectomy?

A

suspensory ligament of the ovary (infundibulopelvic ligament)

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58
Q

dyspnea, hypoxemia, hypocapnia

A

alveolar hyperventilation (from V/Q mismatch: pneumonia or PE)

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59
Q

alveolar hyperventilation mechanism

A

pneumonia/PE → V/Q mismatch → hypoxemia → chemoreceptors increase respiratory drive → hypocapnia (but still hypoxemia since it can’t absorb more O2)

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60
Q

how do beta blockers help in glaucoma?

A

decrease secretion of aqueous humor by ciliary epithelium (same place as acetazolamide

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61
Q

mechanism of bicornate uterus

A

failed lateral fusion of paramesonephric ducts

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62
Q

mechanism of longitudinal uterine septum

A

involution of paramesonephric ducts

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63
Q

nerve for external hemorrhoids (below dentate line)

A

inferior rectal nerve (from pudendal nerve)

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64
Q

non neoplastic polyps (colon)

A

hyperplastic
hamartomatous
inflammatory
mucosal/submucosal

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65
Q

hypoketotic hypoglycemia after fasting

A

impaired beta-oxidation of fatty acids (impaired glycogenolysis would still make ketones)
MC def: Acyl-CoA dehydrogenase

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66
Q

why are people with Crohns in terminal ileum prone to gallstones?

A

bile acids not reabsorbed → ratio of cholesterol to bile acids gets messed up → cholesterol stones

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67
Q

bioavailability equation

A

(area under the curve oral x dose IV) / (area under the curve IV x dose oral)

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68
Q

which blood gas levels are maintained in peak exercise?

A

arterial O2, pH and CO2

mixed venous CO2 goes up

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69
Q

which bacteria have IgA protease

A

staph aureus?
strep pneumo
neisseria
H flu

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70
Q

pathogenesis of osler nodes vs janeway lesions

A

osler: immune complex deposition (painful)
janeway: septic embolization (painless)

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71
Q

mediators of angiogenesis

A

VEGF (vascular endothelial GF)

FGF (fibroblast GF)

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72
Q

which BPH drug actually affects size of prostate

A

5-alpha-reductase inhibitors (finasteride)

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73
Q

MCC febrile seizures

A

roseola (HHV-6)

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74
Q

sx of congenital hydrocephalus

A

macrocephaly
bulging fontanelle
developmental delay
spasticity and hyperreflexia

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75
Q

mechanism of spasticity in congenital hydrocephalus

A

enlarged ventricles → stretch periventricular pyramidal tracts

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76
Q

vitiligo mechanism

A

loss of epidermal melanocytes

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77
Q

what influences potency in anesthetics?

A

MAC (not solubility)

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78
Q

what influences onset of action in anesthetics?

A

solubility (not MAC)

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79
Q

what acidifies urine

A

ammonium

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80
Q

what kind of cardio problems does doxorubicin et al lead to?

A

swelling of sarcoplasmic reticulum (early)
loss of cardiomyocytes
dilated CM

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81
Q

normal PaO2, % saturation, low O2 content

A

anemia (less Hgb)

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82
Q

UC colon cancer vs typical colon cancer

A

arise from non-polypoid dysplastic lesions
multi-focal
develop early p53 and late APC mutations
higher grade

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83
Q

what lung changes happen in L sided heart failure

A

increased hydrostatic P in pulm circulation → transudation of fluid into interstitium → distortion of tissue → decreased lung compliance → poor gas exchange and SOB

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84
Q

causes of reduced lung compliance

A

CHF (L)
pulmonary fibrosis
insufficient surfactant

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85
Q

platelet count in von willebrand

A

normal

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86
Q

granulosa cell tumor description

A
call-exner bodies (rosette)
coffee bean nuclei
secrete estrogen
yellow (lipid content)
usually unilateral
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87
Q

what is a hamartoma made up of

A

disorganized cartilage, fibrous and adipose tissue

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88
Q

renal problem a/w sickle cell

A

renal papillary necrosis

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89
Q

sickle cell → renal problems mechanism

A

sickled cells obstruct vessels → ischemia

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90
Q

robertsonian translocation

A

t(14; 21)

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91
Q

a/w arsenic, thorotrast and polyniyl chloride

A

hepatic angiosarcoma

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92
Q

complication of scaphoid fracture

A

avascular necrosis

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93
Q

MC deficiency of urea cycle (→ hyperammonemia)

A

ornithine transcarbamylase

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94
Q

lungs: columnar cells that line alveolar septa w/o stromal invasion

A

adenocarcinoma in situ

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95
Q

hamartoma in lungs description

A

coin lesions

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96
Q

excess estrogen in cirrhosis →

A

gynecomastia
testicular atrophy
decreased body hair
spider angiomata

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97
Q

clearance of stuff in lungs: mechanism by size

A

10-15: upper resp

2.5-10: mucociliary in trachea/bronchi

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98
Q

vitamins to give to breastfeeding newborns

A

D (prevent rickets)

K (prevent hemorrhagic dz)

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99
Q

what lets TB live in macs

A

sulfatides (inhibit fusion of lysosomes to phagosomes)

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100
Q

what lets TB inactivate neuts, damage mitochondria and release TNF

A

cord factor

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101
Q

JAK2 vs JAK-STAT

A
JAK2 = cytoplasmic (polycythemia)
JAK-STAT = receptor (insulin)
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102
Q

prooximal tubular cell ballooning and vacuolar degeneration

A

acute tubular necrosis

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103
Q

acute tubular necrosis + oxalate crystals

A

ethylene glycol poisoning

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104
Q

kidney problems in BPH

A

urinary retention → hydronephrosis → atrophic/scarred parenchyma

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105
Q

dystonia vs myoclonus

A

dystonia: sustained involuntary contraction (eg torticollis)
myoclonus: sudden, brief contraction

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106
Q

myasthenia gravis vs Lambert Eaton (sx)

A

MG: eyes first, weakness gets worse in day
LE: proximal muscles, weakness gets better in day (+CANCER)

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107
Q

myasthenia gravis vs Lambert Eaton (mech)

A

MG: Abs against Ach receptors
LE: Abs against pre-synaptic Ca channels

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108
Q

myasthenia gravis vs Lambert Eaton (dx)

A

MG: improve/resolve w/ tensilon (edrophonium) test; decremental response w/ nerve studies
LE: no improvement w/ tensilon (edrophonium) test; incremental response w/ nerve studies

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109
Q

FF equation

A

GFR/RPF

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110
Q

RPF equation

A

RBF x (1 - hematocrit)

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111
Q

hepatitis with high mortality in preggers

A

hep E (naked, single-stranded RNA; fecal oral)

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112
Q

complications of psoriasis

A

psoriatic arthritis (up risk w/ HLA-B27)
nail pitting, discoloration
uveitis/conjunctivitis

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113
Q

which sx of pericarditis are chronic vs acute

A

chronic: Kussmaul, pericardial knock
acute: friction rub

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114
Q

sx of serotonin syndrome

A
confusion
agitation
tremor
tachycardia
HTN
clonus
hyperreflexia
hyperthermia 
diaphoresis
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115
Q

large eosinophilic casts

A

Bence-Jones proteins (multiple myeloma)

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116
Q

MCC spontaneous lobar hemorrhage (especially in elderly)

A

cerebral amyloid angiopathy

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117
Q

where does fluid accumulate in a hydrocele?

A

tunica vaginalis (patent processus vaginalis)

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118
Q

where does blood accumulate in a varicocele?

A

pampiniform plexus

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119
Q

ion changes in nicotinic cells when Ach binds

A

influx of Na and Ca

outflux of K

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120
Q

how are fat and insulin resistance related

A

free fatty acids → impair insulin dependent glucose uptake and increase hepatic gluconeogenesis

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121
Q

how does puffer fish toxin cause problems

A

binds to Na channels
inhibits influx → no action potential conduction
(same as red tide dinoflagellates)

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122
Q

how does ciguatoxin cause problems? (from warm water fish/moray eel)

A

binds to Na channels
keeps them open → persistent depolarization
(same as frogs)

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123
Q

insulin signaling

A

intrinsic tyrosine kinase
if MAP kinase → cell growth
if phosphatidylinositol-3-kinase → activate protein phosphatase → glycogen synthesis, GLUT-4 translocation and fat synth

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124
Q

what is the diff between alpha helices and beta pleated sheets?

A

H bonds

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125
Q

where are the majority of anal fissures?

A

posterior midline

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126
Q

alcohols effects on glycemia

A

inhibits gluconeogenesis and fatty acid oxidation → hypoglycemia

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127
Q

what vessels are damaged in a subdural hematoma?

A

cortical bridging veins

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128
Q

what color are the thick/thin myofilaments on a sarcomere EM image?

A
light = thin
dark = thick
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129
Q

hemosiderin-laden macs in pulmonary alveoli

A

chronic elevated pulm capillary hydrostatic P (left-sided heart failure)

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130
Q

what mutation causes maturity-onset diabetes of the young

A

glucokinase gene

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131
Q

what is maturity-onset diabetes of the young?

A

mild, non-progressive hyperglycemia that often worsens w/ pregnancy

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132
Q

pathophys of diabetic neuropathy

A
  1. non-enzymatic glycosylation of proteins → thicken/hyalinize artery walls → microangiopathy of endoneural arterioles → ischemia
  2. intracellular hyperglycemia → glucose → sorbitol/fructose → water follows → osmotic damage
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133
Q

what causes decerebrate posturing?

A

lesion to midbrain, pons (brainstem)

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134
Q

what causes decorticate posturing?

A

lesion to cerebral hemispheres

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135
Q

causes of impetigo

A
staph aureus (MC)
strep pyogenes
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136
Q

abortion meds (+ MOAs)

A

misoprostol (PGE1 agonist)
mifepristone (progesterone antagonist, glucocorticoid antagonist)
methotrexate (folic acid antagonist)

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137
Q

anterior dislocation of the humerus →

A

flattening of the deltoid
acromion prominence
ant axillary fullness
injury to axillary nerve → loss of sense @ lateral shoulder

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138
Q

half life equation

A

(0. 7 x Vd) / CL

0. 7 x volume of distribution divided by clearance rate

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139
Q

first order kinetics (half lives → % eliminated)

A

0 → 0%
1 → 50
2 → 75
on and on and on

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140
Q

paraneoplastics from small cell lung cancer

A

ACTH → Cushing (or from panc)
ADH → SIADH
Abs against Ca channels → Lambert Eaton
Abs against Yo/P/Q/Hu → subacute cerebellar degeneration (can get from breast/ov/uterine too)

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141
Q

paraneoplastics from squamous cell lung cancer

A

PTH-related prt → HCa

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142
Q

smoker + collapsed lung

A

obstruction of mainstem bronchus (central tumor) → alveolar collapse → trachea deviates toward affected side

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143
Q

what enzyme do fibrates inhibit

A

cholesterol 7-alpha-hydroxylase (make bile acids)

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144
Q

untreated obstructive sleep apnea →

A

pulmonary HTN and right heart failure

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145
Q

pt w/ UC/Crohn + shock

A
toxic megacolon (may be a/w C diff too)
order an x ray
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146
Q

why is dubin johnson liver dark?

A

accumulates epi metabolites (dense pigments in lysosomes)

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147
Q

defect in dubin johnson

A

cant excrete bilirubin glucuronides across canalicular membrane

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148
Q

degeneration in ALS

A

anterior horn
lateral CSTs
motor nucs: V, IX, X, XII

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149
Q

atypical cells in EBV

A

activated CD8 cells

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150
Q

where do nosebleeds come from?

A

Kiesselbach’s plexus on nasal septum

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151
Q

why do you give fluid in hypovolemic shock?

A

increase end-diastolic sarcomere length → increase SV

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152
Q

onion-like concentric thickening of arteriole walls

A

hyperplastic arteriosclerosis (diastolic BPs > 120-130)

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153
Q

what hep B serum markers cross placenta in acute infection

A

viral load

HBeAg

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154
Q

types of nevi

A

junctional (@ dermis, not in)
compound (epi + dermis)
intradermal (only in dermis)

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155
Q

Rb actions

A

w/o P: active - prevents damaged cells from progressing

w/ P: inactive - lets damaged cells replicate

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156
Q

what is the sudan III test for

A

malabsorption (test stool for fat)

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157
Q

proximal muscle weakness, elevated CK, endomysial mononuclear inflammatory infiltrate

A

polymyositis

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158
Q

ca sensing receptors for PTH

A

G-protein coupled

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159
Q

vessels likely to be athersclerotic

A

aorta > coronary> carotid > iliac > circle of willis

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160
Q

golgi tendon vs muscle spindle

A
golgi tendon: monitors tension (drop something too heavy)
muscle spindle (intrafusal muscle fibers): monitor stretch (DTRs)
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161
Q

high lipid bone marrow

A

aplastic anemia (pancytopenia + high EPO)

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162
Q

kidney: dilated calyces with overlying renal cortical scarring

A

vesicoureteral reflux

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163
Q

cell levels in SLE

A

pancytopenia (type II HSR)

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164
Q

dihydrofolate reductase inhibitors

A

trimethoprim (bacteria)
methotrexate (humans)
pyrimethamine (protozoa)

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165
Q

what cells are in watery diarrhea

A

(noninflammatory)
no leukocytes
no RBCs

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166
Q

what cells are in dysentery/inflammatory diarrhea

A

PMNs

+/- RBCs

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167
Q

what cells are in enteric fever? (typhi)

A

mononuclear leukocytes

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168
Q

ToF developmental problem

A

anterior and cephalad deviation of the infundibular septum

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169
Q

dysphagia, iron deficiency and shiny red tongue

A

Plummer Vinson syndrome

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170
Q

maintenance dose equation

A

Cpss x CL / [bioavailability fraction]

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171
Q

intellectual disability, gait or posture abnormality, eczema and a musty body odor

A

PKU

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172
Q

henoch-shonlein purpura features

A

GI (colicky)
kidneys (IgA)
skin
joints (migratory arthralgias)

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173
Q

components of preeclamsia

A
gestational HTN (>140, >90)
proteinuria or signs of organ damage
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174
Q

MCC of unilateral fetal hydronephrosis

A

inadequate canalization of the uteropelvic junction

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175
Q

possible treatments for c diff

A

metronidazole
vancomycin
fidaxomicin

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176
Q

treatment for infertility in PCOS

A

clomiphene (estrogen receptor modulator prevents negative feedback inhibition)

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177
Q

neutrophils don’t turn blue on nitroblue tetrazolium testing

A

CGD

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178
Q

drugs that cause disulfiram rxn w/ alcohol

A

metronidazole

sulfas?

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179
Q

valvular fibrous plaques (R > L)

A

carcinoid syndrome

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180
Q

how does carcinoid syndrome → heart plaques

A

excessive serotonin → fibroblast growth → deposit in endocardium → tricuspid regurg

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181
Q

what is elevated in carcinoid syndrome?

A

serotonin

5-HIAA (serotonin metabolite: %-hydroxyindoleacetic acid)

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182
Q

ways to get down syndrome

A

meiotic nondisjunction
unbalanced translocation (Robertsonian)
mosaicism

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183
Q

enterocytes with clear/foamy cytoplasm

A

abetalipoproteinemia (can’t make apo-B → lipids can’t get into blood so they stay in intestinal epithelium)

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184
Q

excessive matrix metalloproteinase activity and myofibroblast accumulation

A

wound contracture (happens a lot on palms/soles/ant thorax)

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185
Q

wound dehiscence

A

rupturing of previously closed wound (from insufficient granulation/scar tissue)
see in abdominal wounds a lot

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186
Q

low cortisol post partum

A

Sheehan syndrome (hypopituitarism)

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187
Q

sheehan syndrome pathophys

A

preg → lots of E → adrenal hyperplasia (doesn’t change blood supply though)
peripartum hemorrhage → hypotension → ISCHEMIA

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188
Q

pathophys of mallory-weiss

A

lots of retching (drunks, bulimics) → rapid changes in intraabdominal/luminal pressure → longitudinal tears
hiatal hernias are a risk too

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189
Q

tremor when maintaining a certain posture, symmetrical upper extremity, may improve with EtOH

A

essential tremor

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190
Q

biggest RFs for coronary heart disease

A

noncoronary atherosclerosis
DM
chronic kidney dz

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191
Q

crypt abscesses vs crypt hyperplasia (causes)

A
abscesses = UC
hyperplasia = celiacs
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192
Q

fever, facial edema, rash, eosinophilia

A

DRESS syndrome (drug rxn w/ eosinophilia and systemic sx)

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193
Q

viral meningitis CSF

A

normal glucose
elevated protein
lymphocytic predominance

194
Q

bacterial meningitis CSF

A

low glucose
high protein
neutrophilic predominance

195
Q

what reflects osteoblast activity

A

bone-specific alkaline phosphatase

196
Q

muscle weakness overcome by repetitive stimulation

A

Lambert Eaton

Botulinum

197
Q

what do you test with the slit lamp exam?

A

Kayser-Fleischer rings in Wilson dz

198
Q

brain complication of ADPKD

A

berry aneurysms, subarachnoid hemorrhages, nuchal rigidity

199
Q

hexagonal crystals in urine

A

cysteine stones

200
Q

why do you get cysteine stones?

A

usually kids
AutoRec: cystinuria
prevent some AAs from being reabsorbed in PCTs

201
Q

lymph nodes - benign vs malignant?

A

benign: polyclonal proliferation of lymphocytes
malignant: monoclonal

202
Q

which coronary artery does the nodes?

203
Q

ADEs of SERMs

A

hot flashes
venous thromboembolism
endometrial hyperplasia/carcinoma (tamoxifen)

204
Q

dry vs wet age related macular degeneration

A

dry: gradual, from oxidative damage
wet: acute, from neovascularization (form VEGF)

205
Q

when does calcification take place with normal Ca levels?

206
Q

beta adrenergic drugs

A
epi (B1)
dopa (B1)
dobutamine (B1 > B2)
isoproterenol (B1, B2)
terbutaline (B2)
207
Q

MCC morbidity in rheumatic fever

A

pancarditis

208
Q

which do you see in adults, ADPKD or ARPKD?

209
Q

enzyme that carboxylates coag factors X, IX, VII, II

A

gamma-glutamyl carboxylase (and vit K)

210
Q

shoulder pain, Horner syndrome, lung involvement

A

pancoast tumor

211
Q

what should people with pyruvate dehydrogenase def eat?

A

only ketogenic amino acids (lysine, leucine, etc)

212
Q

fetal Hb structure

A

alpha2, gamma 2

213
Q

genetic mechanism of fragile X

A

increased number of CGG repeats on FMR1 gene → hypermethylation/inactivation of FMR1

214
Q

substances that are freely filtered @ glomerulus and poorly reabsorbed

A

Cr
inulin
PAH

215
Q

femoral artery/vein/nerve layout

A
vein = medial
artery = middle
nerve = lateral
216
Q

dental bleeding and hemarthrosis

217
Q

concentrations in SIADH

A

low plasma Na
low plasma osm
concentrated urine
normal body fluid volume

218
Q

which BPH tx grows hair

A

finasteride (5-alpha-reductase inhibitor)

219
Q

how does desmopressin treat von Willebrand?

A

increase circulating factor VIII and endothelial secretion of vWF

220
Q

where do you bx for Hirschsprung dz?

A

submucosa of narrow lumen of rectum (see if ganglia are missing)

221
Q

congenital CMV eye thing

A

chorioretinitis

222
Q

lymphoma w/ crazy high mitotic index?

223
Q

what causes fistulas in crohn dz

A

transmural inflammation

224
Q

what causes intestinal strictures in crohn dz

A

partial bowel obstruction

225
Q

cerebellar tumors in kids

A

pilocytic astrocytomas

medulloblastomas (primitive neuroectodermal tumors)

226
Q

why do you get hypercalcemia in sarcoidosis

A

activated macs make 1,25-dihydroxyvitamin D

227
Q

how are cells adhered to the extracellular matrix?

A

intracellular actin
transmembrane integrins
fibronectin
collagen

228
Q

things accumulated in cardiac cells during ischemia

A

Na and Ca (ATP pumps dont work)

→ swelling

229
Q

clues that pack pain is malignant

A

occurrence at night
not relieved with rest/analgesics
systemic sx

230
Q

blue-black spots on sclerae

A

alkaptonuria (homogentisic acid dehydrogenase def)

231
Q

MC malignant hepatic lesion

232
Q

watery diarrhea, hK, achlorhydria

233
Q

whats in the cells in renal clear cell carcinoma

A

high glycogen/lipid

234
Q

ASD and VSD

A
Down syndrome (MC cardiac defect)
complete AV septal defect
235
Q

destruction of intrahepatic, interlobular bile ducts by granulomatous inflammation

A

primary biliary cirrhosis

236
Q

G6PD inheritance

A

X linked recessive

237
Q

hereditary spherocytosis inheritance

238
Q

what stores/releases surfactant?

A

lamellar bodies of type II pneumocytes

239
Q

hypoplasia or cerebellar vermis and cystic dilation of 4th ventricle w/ posterior fossa enlargement

A

Dandy-Walker malformation

240
Q

gait ataxia, impaired joint/vibration sense, skeletal abnormalities

A

Friedreich ataxia

241
Q

MCC death in Friedreich ataxia

A

hypertrophic cardiomyopathy

242
Q

why do you get warfarin skin necrosis?

A

warfarin inhibits vitamin K dependent things (C, S, X, IX, VII, II)
C and S have shortest half lives and die off first
C and S are inhibitors of coagulation, though, so → hypercoag state
thrombotic occlusion of microvasculature → necrosis

243
Q

what measurement is off in hemophilia

244
Q

infection in septic abortion

A

staph aureus, gram negative bacilli

245
Q

whos got cutis aplasia?

A

patau

moms that took methamizole for hyperthyroid

246
Q

marker for hepatocellular carcinoma

A

AFP (not unique, just watch for spikes)

chronic liver disease has it elevated too

247
Q

what is rasburicase and when do you give it?

A

urate oxidase approximation → metabolizes uric acid into more soluble things
use in tumor lysis syndrome

248
Q

liver: blood filled vascular spaces of variable size lined by a single epithelial layer

A

cavernous hemangioma

249
Q

primary mechanism behind giant cell arteritis

A

cell mediated immunity

250
Q

what endothelium secretes to inhibit platelet aggregation

A

prostacyclin (yin to thromboxane A2’s yang)

251
Q

reid index

A

mucous gland / everything but cartilage

252
Q

esophagus: solid nests of squamous cells w/ abundant eosinophilic cytoplasm and distinct broders

A

squamous cell carcinoma

253
Q

boy: tall, learning disability, small/firm testes, gynecomastia

A

klinefelters, 47 XXY

254
Q

levels in klinefelters

A

low T, low inhibin

high LH, FSH, estradiol

255
Q

cell surface-bound Ab crosslinking

A

IgE → type I HSR

256
Q

risks for bladder cancer

A

smoking

occupational: rubber, dyes, textiles, leather

257
Q

which vitamin def is like Friedreich ataxia

258
Q

mechanism of AAA

A

transmural inflammation

259
Q

injury to what nerve → loss of suprapubic sensation

A

iliohypogastric

260
Q

pancytopenia, hepatosplenomegaly, huge macs

A

Gaucher dz (glucocerebroside accumulation)

261
Q

first step of infective endocarditis

A

form sterile fibrin-platelet nidus on valves

262
Q

what does enteropeptidase activate

A

trypsinogen → trypsin

263
Q

upper extremity: loss of pain/temp, LMN
lower: UMN
scoliosis

A

syringomyelia

264
Q

description of bone in osteoporosis

A

trabecular thinning

265
Q

description of bone in pagets

A

lamellar bone resembling mosaic

266
Q

histo/path of HIV-associated dementia

A

inflammatory activation of microglial cells →
microglial nodules around small areas of necrosis
may fuse to form multinucleated giant cells

267
Q

temporal lobe expansion →

A

transtentorial uncal herniation

268
Q

uncal herniation eyes

A

CN III is there
oculomotor nerve palse
fixed dilated pupil

269
Q

what kind of a receptor is HER2?

A

tyrosine kinase

270
Q

alcohol induced hepatic steatosis path

A

decrease in free fatty acid oxidation

271
Q

for how long is the heart normal after an MI

272
Q

why are spleens hurt in sickle cell?

A

repetitive infarctions from microvessel occlusion → fibrosis, brown → autosplenectomy

273
Q

lipoprotein lipase/ApoC-II defect →

A

acute pancreatitis

hepatosplenomegaly

274
Q

LDL receptor/ApoB-100 defect →

A

coronary artery dz

xanthelasmas

275
Q

ApoE defect →

A

coronary artery dz

276
Q

nerve involved in temporomandibular disorder

A

mandibular branch of CN V

→ jaw pain and ear problems

277
Q

problems with fructose metabolism

A

fructokinase def → benign → fructose in urine

aldolase B def → shows when they start to eat → FtT, jaundice, hepatomegaly

278
Q

cancers (and gene) in Li Fraumeni

A
sarcomas
breast cancer
brain tumors
adrenocortical carcinoma
leukemia
(TP53)
279
Q

how to avoid neonatal tetanus

A

vaccination of preggers

280
Q

fever, limping, passive motion ok

A

hematogenous osteomyelitis (MC in children, boys)

281
Q

where in the bone is osteomyelitis

A
metaphysis of long bones (kids)
vertebral bodies (adults)
282
Q

MC causes of osteomyelitis in sickle cell pts

A

salmonella
staph aureus
e coli

283
Q

vaccines: live-attenuated vs inactivated

A

live-attenuated → cell mediated immune response

inactivated → humoral response

284
Q

flu vaccine is response against…

A

hemagglutinin (prevents binding)

285
Q

what gets clamped in a pringle maneuver

A

hepatoduodenal ligament (common bile duct, hepatic artery, portal vein)

286
Q

when do you get adult Hb?

A

get more and more in first 6 months

@ birth HbF = 60-80%

287
Q

hepatotox from inhaled anesthetics (halothane) does what to the liver?

A

looks like acute viral hep - looks shrunken
elevated aminotransferases
prolonged PT

288
Q

GI bugs → reactive arthritis

A
salmonella
shigella
yersinia
campylobacter
c diff
289
Q

reactive arthritis pathophys

A

deposition of immune complexes – no bacteria!

a/w HLA-B27

290
Q

things that lead to a low Vd

A

high molecular weight
high protein binding
high charge
hydrophilic

291
Q

what do brain mets look like grossly

A

multiple, well circumscribed masses @ white-gray jxn

292
Q

underlying cause of megaloblastosis

A

defect in DNA synthesis

293
Q

MCC chronic pancreatitis

A

alcohol abuse

294
Q

what does CREST stand for?

A
calcinosis
raynaud
esophageal dysmotility
sclerodactyly
telangiectasia
295
Q

mechanism of esophageal dysmotility in CREST

A

atrophy and fibrous replacement of muscularis in esophagus

296
Q

how to use alk phos and GGTP

A

alk phos is from many things
so is GGTP (gamma-glutamyl transpeptidase), but its not in bone
so both elevated is prob not from bone

297
Q

fever, RUQ pain, leukocytosis

A

acute acalculous cholecystitis (usually in critically ill)

acute calculus cholecystitis

298
Q

chronic cholecystitis gallbladder looks like

A

shrunken fibrosed gallbladder

299
Q

black vs brown pigment stones

A

black: from intravascular hemolysis
brown: from biliary infection

300
Q

where do you see a change in minimal change disease

A

electron microscope (foot process effacement)

301
Q

how do thin cap fibroatheromas come about

A

lots of macs secreting metalloproteinases

unstable → plaque rupture

302
Q

why are reticulocytes blue w/ wright-giemsa stain?

A

no cell nucleus - has basophilic reticular network of residual RNA

303
Q

why is elastin stretchy

A

extensive cross linking btwn elastin monomers, facilitated by lysyl oxidase (need copper)

304
Q

injections to ovulate

A

1st menotropin → like FSH → triggers formation of dominant follicle

305
Q

causes of diastolic heart failure

A

HTN, obesity, infiltrative d/os

306
Q

ligament injured in nursemaid’s elbow

A

annular (radial head subluxation)

307
Q

hep A histo

A

spotty necrosis, ballooning degeneration, councilman bodies, mononuclear infiltrates

308
Q

what does protein M do in strep pyogenes?

A

inhibits phagocytosis and complement activation

mediates bacterial adherence

309
Q

conjugate vs polysaccharide vaccine (pneumococcus)

A

conjugate → B and T

polysaccharide → B (not great for infants)

310
Q

where is iron absorbed?

A

duodenum and proximal jejunum

311
Q

abdominal pain and facial swelling

A

C1 inhibitor deficiency

312
Q

how can renal failure lead to bleeding problems?

A

uremic toxins accumulate in circulation
toxins impair platelet aggregation/adhesion → qualitative platelet d/o
everything normal but bleeding time

313
Q

low erythroid elements with normal granulopoiesis and thrombopoiesis

A

pure red cell aplasia

314
Q

things a/w pure red cell aplasia

A

thymoma
lymphocytic leukemias
parvo B19

315
Q

DM, steatorrhea, chololithiasis, hypochlorhydria

A

somatostatinoma (panc)

316
Q

hyperglycemia, anemia, necrolytic migratory erythema

A

glucagonoma

317
Q

how does prostate cancer get to the vertebrae

A

prostatic venous plexus → vertebral venous plexus

most will go to lymph nodes tho

318
Q

accentuated 2nd heart sound makes you think of

A

pulmonary arterial HTN

319
Q

how does estrogen influence cholesterol

A

increases cholesterol by upregulating hepatic HMG-CoA reductase activity

320
Q

kidney failure and all things Ca

A

kidney failure → decreased P excretion and decreased calcitriol synth → decreased Ca absorption in gut
PTH goes way up, can → osteitis fibrosa

321
Q

stomach lymph node

322
Q

duodenum, jejunum lymph node

A

superior mesenteric

323
Q

sigmoid node

A

inferior mesenteric

324
Q

upper rectum nodes

A

pararectal

325
Q

lower rectum (above pectinate line) nodes

A

internal iliac

326
Q

lower rectum (below pectinate line) nodes

A

superficial inguinal

327
Q

testes node

A

paraaortic node

328
Q

scrotum node

A

superficial inguinal node

329
Q

dementia + hallucinations

A

Lewy body dementia

330
Q

dementia + personality changes

331
Q

CD on all NK, binds IgG

332
Q

CD inhibits C9 binding

A

CD55, CD59

333
Q

CD endotox receptor on macs

334
Q

HLA B27 –>

A

psoriatic arthritis
ankylosing spondylitis
inflammatory bowel (arthritis)
reactive arthritis

335
Q

HLA a/w type I DM

336
Q

whats the diff in fxn btwn TH1 and TH2

A

TH1: stim Tc cells and macs
TH2: stim B cells to make Abs (also antiTH1/macs w/ IL-10)

337
Q

what is costim for Th and Tc?

A

CD28 on T bind with B7 protein on APC

338
Q

what is costim for Th2/B?

A

B7 on B bind CD28 on T → activate Th2

CD40 on B bind CD40 ligand on T → activate B cell

339
Q

no thymic shadow on CXR

A

DiGeorge

SCID

340
Q

IgA def

A

selective IgA def

ataxia-telangiectasia (T cell too)

341
Q

signs of ataxia-telangiectasia (besides ataxia and telangiectasia)

A

poor smooth pursuit of moving targets

elevated AFP

342
Q

complications of ataxia-telangiectasia

A

radiation sensitivity

risk of lymphoma/leukemia

343
Q

truncal eczema

A

Wiskott-Aldrich

344
Q

low IgM, high IgA

A

Wiskott-Aldrich

345
Q

mechanism for hyper-IgM syndrome

A

no CD40 on B-cells → no switching (AutoRec)

no CD40L on Th → no switching (X-linked, MC)

346
Q

deficiency in CGD

A

NADPH oxidase (can’t kill catalase + orgs)

347
Q

partial albinism, recurrent resp/skin infections, neuro d/o

A

Chediak-Higashi

348
Q

eczema, cold abscesses, coarse facial features

A

hyper-IgE syndrome (Job)

349
Q

two rows of teeth

A

hyper-IgE syndrome (Job)

350
Q

defect in leukocyte adhesion deficiency

A

abnormal integrins

phagocytes cant leave circulation

351
Q

delayed umbilical cord falling off

352
Q

X linked immunodeficiencies

A
WACH
Wiskott-Aldrich
Agammaglobulinemia
CGD
Hyper IgM
353
Q

FTT, chronic diarrhea, recurrent infections

354
Q

immunodeficiency w/ thrombocytopenia/purpura

A

Wiskott-Aldrich

355
Q

large lysosomal vesicles in phagocytes

A

Chediak-Higashi

356
Q

somatostatinoma →

A

less secretin, CCK, glucagon, insulin, gastrin

→ DM, steatorrhea, gallstones

357
Q

diseases of anterior horn

A

polio
west nile
ALS
Werdnig-Hoffman

358
Q

hypoglycemia, increased lactate, TGs, uric acid, hepatomegaly

A

Von Gierke (glucose-6-P def)

359
Q

cardiomegaly, exercise intolerance

A

Pompe (lysosomal alpha-1,4-glucosidase)

360
Q

normal lactate levels, hypoglycemia, hepatomegaly

A

Cori (alpha-1,6-glucosidase)

361
Q

muscle cramps, myoglobinuria, arrhythmia

A

McArdle (myophosphorylase)

362
Q

growth/mental retardation, seizures, fair skin, musty body odor

363
Q

intellectual disability, tall, osteoporosis, kyphosis, subluxation of lens

A

homocystinuria

364
Q

subluxation of the lens

A

marfan (upward)

homocystinuria (downward)

365
Q

black urine, dark sclera, arthralgias

A

alkaptonuria

366
Q

broca/wernicke aphasia (vessel affected)

A

middle cerebral artery

367
Q

unilateral lower extremity sensory/motor loss (vessel)

A

anterior cerebral artery

368
Q

unilateral sensory/motor loss in face and arm

A

middle cerebral artery

369
Q

condition a/w berry aneurysms

A

Ehlers-Danlos
PCKD
(Marfan - not really tho)

370
Q

agraphia, acalculia, R/L disorientation, finger agnosia

A

Gerstmann syndrome (dominant angular gyrus lesion in parietal lobe)

371
Q

hemispatial neglect lesion

A

nondominant angular gyrus (parietal)

372
Q

paralysis of upper gaze

A

Parinaud’s syndrome (superior colliculus in brainstem)

373
Q

striatum/internal capsule lesion (vessel)

A

lenticulostriate artery (MC: unmanaged HTN)

374
Q

locked in syndrome (vessel)

375
Q

hemianopia w/ macular sparing (vessel)

A

posterior cerebral artery

376
Q

facial paralysis, decreased lacrimation

A

lateral pontine syndrome (facial nucleus is anterior inferior cerebellar artery)

377
Q

dysphagia, hoarseness, decreased gag reflex

A

lateral medullary syndrome (nucleus ambiguus is posterior inferior cerebellar artery)

378
Q

long tract lesion on one side, CN lesion on other

A

brain stem lesion

379
Q

4 medial structures of brain stem

A

Motor (CST)
Medial lemniscus (top of DCs)
Medial longitudinal fasciculus
Motor CNs

380
Q

midline motor CN nuclei

A

III, IV, VI, XII

381
Q

weak contra arm/leg

A

CST lesion deficit

382
Q

lose vibe/prop/touch in contra arm/leg

A

medial lemniscus lesion deficit

383
Q

ipsilateral internuclear opthalmoplegia

A

medial longitudinal fasciculus lesion deficit

384
Q

4 lateral structures of brain stem

A

Spinocerebellar tract
Spinothalamic tract
Sensory (V) m
Sympathetic

385
Q

ipsilateral arm/leg ataxia

A

SCT lesion def

386
Q

lose pain/temp in contra arm/leg

A

STT lesion def

387
Q

ipsilateral pain/temp face

A

sensory CN V lesion def

388
Q

ipsilateral Horner (ptosis, miosis, anhidrosis)

A

symp path lesion def

389
Q

damage in Wallenberg syndrome

A
STT
CNV nuc
nuc ambiguus (X)
symp
usually vestibular nuc/inferior cerebellar peduncle too
390
Q

lateral medulla vessel

391
Q

aneurysm → basal ganglia or thalamus lesion

A

Charcot-Bouchard microaneurysm on lenticulostriate arteries

392
Q

layers of LP

A
skin
superficial fascia
supraspinous lig
interspinous lig
ligamentum flavum
epidural space
dura mater (+subdural)
arachnoid membrane 
subarachnoid space
393
Q

temporal fracture →

A

epidural hematoma
may herniate → CN III palsy (blown, down and out)
may have lucid interval

394
Q

rupture of bridging veins →

A

subdural hematoma

395
Q

brain hematoma (circular/lens vs crescent)

A

circular: epidural
crescent: subdural

396
Q

areas must susceptible to ischemia in the brain

A

cerebellum
neocortex
hippocampus
watershed (btwn ACA/MCA, btwn MCA/PCA)

397
Q

soap bubble bone appearance

A

osteoclastoma

398
Q

MC hip dislocation

A

posterior (MVA)

399
Q

terrible triad

A

ACL, MCL, meniscus

400
Q

tenderness in anatomical snuffbox

A

scaphoid frx

401
Q

anterior knee bursa

A

prepatellar (housemaid)

infrapatellar (clergyman)

402
Q

joint pain after prolonged use

403
Q

when do you use N-acetylcysteine?

A

acetaminophen overdose
mucolytic (CF)
prevent contrast nephropathy

404
Q

joint pain with morning stiffness

405
Q

which arthritis has eburnation

406
Q

psoriatic arthritis

A

inflammatory a/w psoriasis
asymmetric
affects DIP
sausage fingers

407
Q

extra-skeletal ankylosing spondylitis sx

A

uveitis

CV (aortic regurg, conduction anomalies)

408
Q

kinds of juvenile idiopathic arthritis

A

polyarticular (dactylitis)
pauciarticular (large jnts)
systemic-onset (Still’s dz)

409
Q

MC septic arthritis

A

staph aureus
streptococcus
neisseria

410
Q

pencil in cup deformity

A

psoriatic arthritis

411
Q

painless oral ulcers

412
Q

false positive VDRL

A

anti-phospholipid

SLE

413
Q

ANA (+)

A
SLE
Sjogren
scleroderma
polymyositis/dermatomyositis
RA
JRA (JIA)
mixed CT dz
414
Q

diffuse scleroderma Abs

A

anti-DNA topoisomerase I Abs (anti-Scl-70)

415
Q

CREST

A
Calcinosis
Raynaud
Esophageal dysmotility
Sclerodactyly 
Telangiectasia
416
Q

CREST vs diffuse scleroderma

A

CREST is less: limited skin involvement, less visceral, progress more slowly, anti-centromere Abs

417
Q

dry eyes, dry mouth (dysphagia), arthritis

418
Q

cancer a/w Sjogrens

A

B cell lymphoma

419
Q

duchenne vs becker

A

duchenne worse and earlier (

420
Q

pain/stiffness in shoulders/hips, malaise, weight loss, fever

A

polymyalgia rheumatica

421
Q

polymyalgia rheumatica muscle involvement

A

no muscle weakness

normal CK

422
Q

proximal vs distal muscle weakness

A

proximal → muscle dz

distal → neuro dz

423
Q

polymyositis mech

A

CD8 injury and inflammation of muscle

424
Q

skin things in dermatomyositis

A
malar 
heliotrope (eyelids)
Gottron's papules (knuckles/knees)
shawl sign
V sign
mechanics hands/feet
425
Q

MCC death in SLE

A

lupus nephritis/nephropathy

426
Q

layers of epidermis

A
come, lets get sun burnt
corneum
lucidium
granulosum
spinosum
basale
427
Q

protein types in tight junctions (zonula occludens)

A

claudins

occludens

428
Q

protein types in intermediate junctions (zonula adherens)

429
Q

protein types in desmosomes (macula adherens)

A

desmoglein

430
Q

protein types in hemidesmosomes

431
Q

what do fibroblasts make

A

collagen
glycosaminoglycans (GAGs)
reticular and elastic fibers
glycoproteins

432
Q

where are melanocytes?

A
stratum basale (bottom layer of epidermis)
from neural crest
433
Q

itch that rashes

434
Q

pruritis linear rash

A

poison ivy (type IV)

435
Q

silvery scales

436
Q

parakeratosis

A

psoriasis (nuc in corneum)

437
Q

pruritis a/w asthma

A

eczema (atopic dermatitis, type I HSR)

438
Q

MCCs cellulitis

A

staph aureus

strep pyogenes

439
Q

scalded skin syndrome pathophys

A

s. aureus exotoxin A/B → destroy keratinocyte attachments in stratum granulosum

440
Q

what Ig is in dermatitis herpetiformis

441
Q

SJS vs TEN

A

toxic epidermal necrolysis is > 30% of the skin

442
Q

drugs causing SJS

A

seizure meds
sulfa drugs
penicillins
allopurinol

443
Q

disease a/w lichen planus

444
Q

conditions a/w erythema nodosum

A
sarcoidosis
histoplasmosis
coccidioidomycosis
TB
leprosy
strep pyogenes
445
Q

herald patch + christmas tree pattern

A

pityriasis rosea

446
Q

MC skin cancers

A

basal > squamous > melanoma

malignant-ness is reversed

447
Q

keratin pearls

A

squamous cell carcinoma

448
Q

rolled edges, pearly, telangiectasias

A

basal cell carcinoma

449
Q

collagen in mature scars

450
Q

peripheral neuropathy, heart failure

A

wet beriberi (thiamine deficiency)

451
Q

why does CK go up with muscle injury

A

apoptosis: CK from inside cell goes into circulation

452
Q

when do you see fat necrosis?

A

acute pancreatitis

453
Q

differential clubbing and cyanosis

A

patent PDA → Eisenmenger synd

454
Q

what is transthyretin

A

protein made in liver
carries thyroxine and retinol
mutation → misfolding → infiltrative CM

455
Q

what receptors does NE affect

A

alpha > B1

456
Q

what murmur do you get with bicuspid aortic valve?

A

same as AS: crescendo/decrescendo systolic

457
Q

sperm sequence

A
spermatogonium (2N)
1/1 spermatocyte (2N)
2/2 spermatocyte (1N)
spermatid 
spermatozoon
458
Q

kid can’t smell, amenorrhea

A

Kallmann syndrome (no GnRH → no FSH, LH)

459
Q

male: hypogonadism, learning disability, gynecomastia, tall

A

Klinefelters

460
Q

injury in straddle injury

A

bulbous urethral segment

461
Q

epididymitis vs torsion

A

torsion is higher up, epididymitis gets better if you lift it up

462
Q

girl, 2/2 sex, amenorrhea, short vagina, rudimentary uterus

A

Muellerian aplasia (Mayer-Rokitansky-kuster-hauser synd)

463
Q

2/2 female sex characteristics, XY, no uterus/ovaries

A

androgen insensitivity

464
Q

unilateral, bloody nipple discharge

A

intraductal papilloma

465
Q

ovarian tumor: increased AFP

A

endodermal sinus (yolk sac) tumor

466
Q

ovarian tumor: increased androgens

A

sertoli-leydig tumor

467
Q

ovarian tumor: increased E/inhibin

A

granulosa cell tumor

468
Q

ovarian tumor: increased beta-HCG, LDH

A

dysgerminoma

469
Q

ovarian tumor: increased CA-125

A

epithelial tumors (serous/mucinous)

470
Q

breast mass: single file cells

A

lobular breast tissue

471
Q

short, hypotonia, intellectual disability, obesity

A

prader willi

472
Q

episodic peripheral neuropathy, angiokeratomas, hypohydrosis

A

Fabry (alpha-galactosidase A def)

473
Q

progressive neurodegeneration, hepatosplenomegaly, cherry red spot, foam cells

A

Niemann-Pick (sphingomyelinase def)

474
Q

progressive neurodegeneration, cherry red spot on macula, NO hepatosplenomegaly

A

Tay-Sachs (hexosaminidase A)

475
Q

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbe dz (galactocerebrosidase def)

476
Q

central/peripheral demyelination, ataxia, dementia

A

metachromatic leukodystrophy (arylsulfatase A)

477
Q

developmental delay, gargoylism, corneal clouding, hepatosplenimegaly

A

Hurler synd (alpha-L-iduronidase def)

478
Q

diff btwn Hurler and Hunter

A

Hunter isn’t as bad and no corneal deposits (Hunter = iduronate sulfatase def)

479
Q

Brisk, painless lower gi bleeding

480
Q

What kind of thing crosses placenta

A

Lipophilic

481
Q

Tumor → Parinaud