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

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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)

33
Q

Pulmonary embolism ECG changes

A

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

34
Q

peroxisome role

A

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

35
Q

necrotizing vasculitis, granulomas, and eosinophilic necrosis.

A

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

36
Q

Aripiprazole

A

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

37
Q

XR

A

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

38
Q

XD

A

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

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.

40
Q

AD

11

A

Huntington disease, myotonic dystrophy, tuberous sclerosis, and neurofibromatosis, marfan, MEN, NF1, NF2, Li-fraumeni, von hippel-lindau, achondroplasia

41
Q

Cilostazol: use and mechanism of action

A

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

42
Q

VHL (ch3)

A

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

43
Q

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

A

Sarcoidosis (Type IV hypersensitivity)

44
Q

Non polar amino acids

A

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

44
Q

Basic amino acids +

A

Lys, Arg, His

44
Q

Acidic amino acids -

A

Asp, Glu

45
Q

Class IA antiarrythmics (moderate Na channel antag)

A

Quinidine, procainamide, disopyramide

46
Q

Class IB antiarrythmics (weak Na channel blockage)

A

Lidocaine, phenytoin, mexiletine.

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 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.

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)

69
Q

Bupropion

A

inhibits NE - D reuptake
Side effect: seizure (no sex disfunction)
used as non-benzo anxiolytic, atypical antidepressant, 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

Ornithine transcarbamylase def

A

XR,
Sx: increased urinary orotic acid, hyperammonemia, part of pyrimidine synthesis

74
Q

Orotic aciduria

A

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

75
Q

Severe combined immunodeficiency

A
  • IL-2 receptor mutation
  • adenosine deaminase def (tx: retroviral gene therapy, stem cell transplant)
76
Q

Gingival hyperplasia (caused by)

A

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

77
Q

Fulminant hepatitis in pregnant women

A

Hep E (naked ssRNA), fecal-oral transmission