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Nbme+ Flashcards

1
Q

46 XY fetus, female external genitalia (mild clitoral enlargement), male genital ducts. Deficiency in ?

A

5alpha-reductase def

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2
Q

Bilateral weakness, decreased deep tendon reflexes, ataxic gait, numbness and tingling in legs and arms. No megaloblastic anemia. Deficiency?

A

Vit E (can present similarly to def in B12, cobalamin).

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3
Q

Cellulitis causes and differentiation

A

Staph aureus (clusters of cocci + purulent), Strep pyo (chains of cocci + non-purulent)

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4
Q

Cause of increased cerebral blood flow

A

increased CO2 in blood (hypercapnia= cerebral vasodilation) ex: decreased respiratory rate/ decreased tidal volume

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5
Q

AIDS patient with watery diarrhea, abd pain, intraluminal oocytes

A

Cryptosporidium parvum (stains acid fast) Tx: nitazoxanide

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6
Q

Metformin side effect

A

lactic acidosis

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7
Q

Respiratory alkalosis

A

hyperventilation (anxiety), anemia, hypoxemia (altitude), PE, pregnancy, hypotension, ILD, early salicylates

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8
Q

Respiratory acidosis

A

respiratory depression

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9
Q

Metabolic alkalosis

A

vomiting, loop/thiazide diuretics, antacids
(check urine Cl-)

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10
Q

Atrophic cerebella vermis Sx

A

gait ataxia (proximal muscles, truncal)

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11
Q

Spacial neglect cause

A

damage of non-dominant parietal lobe (usually right MCA)

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12
Q

1yo with coarse facial features, corneal clouding, hepatosplenomegaly, joint contractures, intellectual disability, hirsutism, and developmental delay.

A

Hurler syndrome AR : alpha-L-iduronidase def.
Deposition of heparan sulfate and dermatan sulfate.
Dx: urinary gylocosaminogylcan

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13
Q

coarse facial features, aggressive behavior and pearly papular skin lesions

A

Hunter syndrome XR: iduronate-2-sulfatase
Dx: urinary gylocosaminogylcan

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14
Q

skeletal abnormalities, clouded corneas, heart disease, no intellectual disability.

A

beta-galactosidase def

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15
Q

neurological decline, a cherry-red spot on the macula, blindness, deafness, and developmental delay.

A

Tay-sachs (beta-hexosaminidase A def)

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16
Q

myoclonus, gait abnormalities, cherry-red macules, coarse facial features, skeletal malformations and mild intellectual disability.

A

Neuroaminidase def

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17
Q

Steroid sulfatase def (XR)

A

ichthyosis, or hyperkeratosis of the skin with scaling, corneal opacification, ADHD, and cryptorchidism

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18
Q

Reason for neonatal hyperoxygenation (in premature infants)

A

ROP (protection of retina)

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19
Q

Fluoroquinolone example and mechanism of action

A

Ciprofloxacin, inhibition of DNA gyrase =topoisomerase

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20
Q

Rifampin mechanism of action

A

Inhibits RNA polymerase (mRNA synthesis)

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21
Q

Metronidazole mechanism of action

A

Inhibition of DNA integrity (free radicals)

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22
Q

TMP-SMX mechanism of action

A

Inhibition of DNA methylation

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23
Q

Side effects of beta2-adrenergic agonists

A

essential tremor, hyperglycemia, tachycardia, hypertension, headache, hypokalemia

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24
Q

Neonatal conjunctivitis prophylaxis

A

silver nitrate or erythromycin (inhibits 50s ribosomal subunit, protein synthesis)

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25
Q

Lack of CD18

A

leukocyte adhesion def: no migration

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26
Q

Baby with a 3day fever then a rash

A

HHV-6: roseola

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27
Q

Pruritus worst at night and erythematous papules with burrows + Tx

A

scabies. Tx:permethrin cream, oral ivermectin

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28
Q

PCA occlusion

A

ipsilat. occipital lobe- contralateral visual field deficit with macular sparing

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29
Q

PICA lesion

A

Sx: horsness, dysphagia, ipsilat horner syn., decreased gag reflex, nystagmus.
called wallenberg/ lat medullary syndrome

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30
Q

anti-GpIIb/IIIa antibody

A

Immune thrombocytopenic purpura

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31
Q

NNT

A

NNT=1/ARR= 1/ (risk control - risk tx)

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32
Q

acyclovir, valacyclovir, and famcyclovir mechanism of action

A

inhibit viral DNA polymerase, classically by guanosine analogs (must be phosphorylated by thymidine kinase)

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33
Q

Pulmonary embolism ECG changes

A

Sinus tachy, “S1T3Q3”, right axis deviation (if right heart strain)

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34
Q

peroxisome role

A

oxidation of VLCFA and of branched-chain fatty acid
if deficient: increased phytanic acid (shortened 4th toe)

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35
Q

necrotizing vasculitis, granulomas, and eosinophilic necrosis.

A

Churg-Strauss syndrome or eosinophilic granulomatosis with polyangiitis: a small-vessel vasculitis

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36
Q

Aripiprazole

A

D2 partial agonist (2nd gen antipsych)
Other 2nd gen antipsych are reversible antagonists.

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37
Q

XR

A

glucose-6-phosphate dehydrogenase deficiency. Duchenne and Becker muscular dystrophy, and hemophilia A and B. Fabry. Hunter

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38
Q

XD

A

Fragile X syndrome, Alport syndrome, incontinentia pigmenti, hypophosphatemic rickets, and Rett syndrome.

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39
Q

Mitochondrial inheritance

A

Leber hereditary optic neuropathy, maternally inherited diabetes and deafness, myoclonic epilepsy with ragged red fibers, and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome.

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40
Q

AD

10

A

Huntington disease, myotonic dystrophy, tuberous sclerosis, marfan, MEN, NF1, NF2, Li-fraumeni, VHL, achondroplasia

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41
Q

Cilostazol: use and mechanism of action

A

used for peripheral artery disease. It inhibits PDE3 (decreases platelet activation) and induces vasodilation.

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42
Q

VHL (ch3)

A

(AD), Hemangioblastomas (retina/CNS), tumors of pancreas and renal clear cell carcinoma, pheochromocytoma

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43
Q

non caseating granuloma, bilat hilar adenopathy, increased Ca2+, increased ACE,

A

Sarcoidosis (Type IV hypersensitivity)

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44
Q

Non polar amino acids

A

Gly, Ala, Val, Leu, Ile, Methionine, Phe, Pro, Tryptophan
Hydrophobic (transmembrane domain)

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44
Q

Basic amino acids +

A

Lys, Arg, His

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44
Q

Acidic amino acids -

A

Asp, Glu

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45
Q

Class IA antiarrythmics (moderate Na channel antag)

A

Quinidine, procainamide, disopyramide

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46
Q

Class IB antiarrythmics (weak Na channel blockage)

A

Lidocaine, phenytoin, mexiletine.

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47
Q

Class IC antiarrythmics (strong Na channel blockage)

A

Flecainide, propafenone.

48
Q

AR

9

A

PKU, cystic fibrosis, sickle cell, wilson, hemochromatosis, glycogen storage, thalassemia, freidreich ataxia, kartagener (primary ciliary diskinesia),

49
Q

Biceps brachii actions

A

Flexion of the elbow, supination of the forarm

50
Q

Diverticula most common location

A

sigmoid colon (smaller diameter, increased pressure during peristalsis)

51
Q

Split s2

A

Wide: pulmo stenosis, pulmo HTN, RBBB, VSD, ASD (fixed throughout resp)
Narrow: aortic stenosis, HTN, LBBB, Hypertrophic cardiomyopathy

52
Q

Argininosuccinate

A

In urea cycle (citrulline + Asp = Agininosuccinate = Arginine + Fumarate)

Deficiency in Argininosuccinate Lyase (AR), results in argininosuccinic aciduria.

53
Q

Malabsorption (diarrhea), muscle weakness, retinitis pigmentosa, spinocerebellar degeneration, blindness, mental retardation, acanthocytes (RBC).

A

Abetalipoproteinemia AR (mutation in MTP gene = microsomal transfer protein)
(spinocerebellar degeneration due to Vit E def. )
Histo: lipid-laden enterocytes.
Tx: vit E + restrict LCFA

54
Q

Pituitary adenoma Tx

A

Dopamine agonists (bromocriptine, cabergoline) , transsphenoidal resection

55
Q

Succinate dehydrogenase

A

=complex II
succinate to fumarate (TCA cycle), yields FADH2

56
Q

Cyanide/ CO poisoning
MOA, Sx for each

A

Inhibit complex IV of the electron transport chain (cytochrome c oxidase).
Cyanide sx: almond odor, elevated lactate, anion gap met acid, cherry red skin
CO (competitive binding to heme) sx: left shift of ODC, cherry red skin with bullous skin lesions.

57
Q

Deficit in pain and temperature sensation and LMN dysfunction in the bilateral upper extremities

A

Syringomyelia : cystic, fluid-filled, gliosis-lined cavity within spinal cord.
Associated with Chiari I

58
Q

LMN lesion

A

weakness, fasciculation, flaccid paralysis, hypotonia, mm atrophy, absent reflexes

59
Q

UMN lesion

A

spastic paralysis, clasp-knife rigidity, hyperreflexia, positive babinski
ex: internal capsule stroke

60
Q

Cataracts, early balding in males, Gonadal atrophy, muscle wasting, difficulty releasing from handshake

A

Myotonic dystrophy AD. CTG trinucleotide repeat in DMPK gene.
Dysfunctional DNA mismatch repair.
Trinucleotide repeat susceptible for anticipation.

61
Q

Angioedema, low C2 and C4 levels, no urticaria, increased bradykinin

A

hereditary angioedema AD (C1 esterase inhibitor def)
ACE inhibitors contraindicated (-pril)

62
Q

Isoniazid:
- MOA
- CYP450
- Coenzyme needed
- Overdose Sx

A
  • Used for TB, inhibit mycolic acid synthesis
  • CYP450 inhibitor
  • Different half-lives for slow and fast acetylators
  • Uses B6 (pyridoxime) leading to a def of Vit B6
  • Drug induced lupus risk
  • Overdose= seizure
63
Q

Epididymitis

A

Sx: fever, pain that alleviates with elevation of the hemiscrotum, purulent discharge
Cause: N. gonorrhoea or Chlamydia
Tx: ceftriaxone and doxycycline (for coinfection of chlamydia)

64
Q

MODY/ gestational diabetes
-Enzyme def?

A

Glucokinase deficiency
MODY AD
In gestational diabetes (also hPL creates insulin resistance)

65
Q

Bosentan

A

Use: Pulmo HTN
MOA: inhibit endothelin-1 receptor

66
Q

Cabergolin

A

Dopamine agonist (for pituitary adenomas)

67
Q

Leuprolide

A

GnRH analog

68
Q

Octreotide

A

Somatostatin analog (used for secretory diarrheas in VIPoma and carcinoid syndrome) and to reduce portal HTN

69
Q

Bupropion

A

inhibits NE - D reuptake
Side effect: seizure (no sex disfunction)
used as non-benzo anxiolytic, atypical antidepressant,
antagonist of nAchR: used for smoking cessation

70
Q

Radiolucent osteolytic lesion

A

Metastasis from:
- multiple myeloma
- non-hodgkin
- non-SCLC
- RCC
- Melanoma

71
Q

Radio-opaque osteoblastic lesion

A

Metastasis from:
- Prostate
- SCLC
- Hodgkin

72
Q

Tx of drug-induced parkisonism

A

Anticholinergic: benztropine

73
Q

Orotic aciduria

A

AR- UMP synthase def
Sx: increased urinary orotic acid, megaloblastic anemia

74
Q

Severe combined immunodeficiency

A
  • IL-2 receptor mutation
  • adenosine deaminase def (tx: retroviral gene therapy, stem cell transplant)
75
Q

Gingival hyperplasia (caused by)

A

cyclosporins, Ca channel blockers (-dipines and diltiazem, verapamil) , phenytoin

76
Q

Fulminant hepatitis in pregnant women

A

Hep E (naked ssRNA), fecal-oral transmission and acute illness (like HepA), high mortality in pregnant women

77
Q

alpha1 blocker

A

doxazosin, prazosin, terazosin, (tamsulozin- uroselective)

78
Q

NK cell activated by
NK cells target

A

INF + IL-12 + IL-2 or CD16 binding of IgG
Cells with no (or decreased) MHC I expression. Ex: virus infected/ tumor cells.

79
Q

Vimentin

A

Mesenchymal tissue (ex: fibroblasts, endothelial cells, macrophages)

80
Q

IL-1

A

osteoclast activating factor

81
Q

Burton tyrosine kinase (BTK)

A

X-linked agammaglobulinemia

82
Q

Acbiximab

A

Ab against platelet IIb/IIIa receptor

83
Q

Rapid overcorrection of hyponatremia

A

Osmotic demyelination syndrome: pons are affected. “locked-in syndrome”
Can also occur with rapid glucose correction

84
Q

Hemiballismus

A

Lacunar stroke of contralateral subthalamic nuclei -> controls the basal ggl -> no inhibition of thalamus ->

85
Q

Dry skin, photosensitivity (prolonged severe sunburn), skin cancer

A

Xeroderma pigmentosum - DNA nucleotide excision repair defective (inability to repair DNA pyrimidine dimers)

86
Q

Lynch (HNPCC)

A

Mismatch repair leading to instability of microsatellite regions of the genome

87
Q

Metencephalon

A

Gives rise to cerebellum and pons
Dandy walker syndrome

88
Q

Varenicline

A

partial agonist of nAchR.
Used for smoking cessation

89
Q

Neuropathic pain Tx

A

TCA, SNRI

90
Q

γ-glutamyl transpeptidase (GGT)

A

Increased in liver and bile diseases but NOT in bone disease
(determining factor when alkaline phosphatase high, can from cholestasis/bone)

91
Q

Serine proteases drug MOA

A

Irreversible inhibitors of AchE which contain a serine residue at their active site

92
Q

Allergic Rhinitis Tx

A

Alpha1 agonist (phenylephrine)

93
Q

Oligodendrocytes

A

Myelinate CNS neurons as well as CN II (optic) and CN I (olfactory). Stains GFAP.
It does not regenerate.
Destroyed in progressive multifocal leukoencephalopathy (reactivation of JC virus)

94
Q

Clopidogrel, ticagrelor

A

Block ADP (P2Y12) receptor (decrease GpIIb/IIIa expression -> decreased platelet aggregation)

95
Q

PKU

A

def in phenylalanine hydroxylase (cofactor tetrabiopterin BH4) which normally converts phenylalanine to tyrosine

96
Q

MAO inhibitors
(Ex, MOA, Uses, side effects)

A

Tranylcypromine, phenelzine, isocarboxazid, selegiline.
increase presynaptic concentration of NE, E, 5-HT, dopamine by inhibiting their degradation.
Used in anxiety disorder and atypical depression.
Side effects: Hypertensive crises with tyramine ingestion (cheese, wine).

97
Q

CCR5 inhibitor (HIV)

A

maraviroc

98
Q

Fusion inhibitor (HIV)

A

enfuviritide

99
Q

Protease inhibitor (HIV)

A

-navir (protein processing)

100
Q

NRTI (HIV)

A

-vudine

101
Q

ADPKD (AD polycystic kidney disease)

A

Polycystin mutation (PKD)

102
Q

Desmin

A

Muscles (intermediate filaments)

103
Q

Vaginal atrophy

A

decreased estrogen (negative feedback of prolactin on GnRH in breastfeeding women)

104
Q

Melanoma in african americans

A

acral lentiginous- distal extremities, not related to UV radiation: finger, palms, soles, and toes.

105
Q

Small cell lung cancer

A

Central location, Neuroendocrine tumor (neuron-specific enolase marker and Chromogranin/ synaptophysin stain).
associated with SIADH, Cushing syndrome (ACTH), Lambert-Eaton, encephalitis

106
Q

GLUT 5

A

Found in GI tract and spermatocytes, absorb fructose (insulin-independent).

107
Q

Tyrosine hydroxylase def

A

Normally, tyrosine -> L-DOPA
When deficient: decreased homovanillic acid in CSF, progressive dystonia (due to def of dopamine) and cognitive impairment (due to def in catecholamines)

108
Q

Alpha-synuclein

A

Parkinson (Cells called Lewy bodies: circular eosinophilic inclusion) in substantia nigra

109
Q

Type III hypersensitivity reaction

A

(immune complex-mediated 3; circulating Ag-Ab-complement that deposit in tissues)
ex: SLE, drug-induced serum sickness, RA, IgA vasculitis, PSGN,

110
Q

Type II hypersensitivity reaction

A

(Ab bind to cell-surface Ag)
ex: Acute rheumatic fever (Step pyogenes), MG, Graves, autoimmune hemolytic anemia…

111
Q

Type IV hypersensitivity reaction

A

(Cell mediated with Ag specific CD8+ and CD4+ T cells)
ex: Graft-vs-host disease, PPD test, allergic contact dermatitis
NO Ab needed

112
Q

Tamoxifen

A

Selective estrogen receptor modulator

113
Q

VACTERL

A

Association (mesodermal defects):
Vertebral, Anorectal atresia, Cardiac, Tracheoesophageal fistula, Esphageal, Renal/ Radial, Limb

114
Q

epithelial Na+ channel inhibitors (collecting tubules)

A

Amiloride, Triamterene
(K-sparing)

115
Q

Dermatomyosis

A

Paraneoplastic syndrome of adenoma or alone

116
Q

Hypogastric artery (other name)

A

Internal iliac a

117
Q

Polyarteritis nodosa

A

“beads on a string”, predisposing factor HepB and HepC.

118
Q

Turner Syndrome

A

meiotic nondisjunction during gametogenesis

119
Q

Micrognathia, low set ears, clenched fists (overlapping fingers), congenital heart, prominent occiput, rocker-bottom feet

A

Trisomy 18, Edwards

NBME (1 decks)

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