Nbme+ Flashcards
(134 cards)
1
Q
46 XY fetus, female external genitalia (mild clitoral enlargement), male genital ducts. Deficiency in ?
A
5alpha-reductase def
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).
3
Q
Cellulitis causes and differentiation
A
Staph aureus (clusters of cocci + purulent), Strep pyo (chains of cocci + non-purulent)
4
Q
Cause of increased cerebral blood flow
A
increased CO2 in blood (hypercapnia= cerebral vasodilation) ex: decreased respiratory rate/ decreased tidal volume
5
Q
AIDS patient with watery diarrhea, abd pain, intraluminal oocytes
A
Cryptosporidium parvum (stains acid fast) Tx: nitazoxanide
6
Q
Metformin side effect
A
lactic acidosis
7
Q
Respiratory alkalosis
A
hyperventilation (anxiety), anemia, hypoxemia (altitude), PE, pregnancy, hypotension, ILD, early salicylates
8
Q
Respiratory acidosis
A
respiratory depression
9
Q
Metabolic alkalosis
A
vomiting, loop/thiazide diuretics, antacids
(check urine Cl-)
10
Q
Atrophic cerebella vermis Sx
A
gait ataxia (proximal muscles, truncal)
11
Q
Spacial neglect cause
A
damage of non-dominant parietal lobe (usually right MCA)
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
13
Q
coarse facial features, aggressive behavior and pearly papular skin lesions
A
Hunter syndrome XR: iduronate-2-sulfatase
Dx: urinary gylocosaminogylcan
14
Q
skeletal abnormalities, clouded corneas, heart disease, no intellectual disability.
A
beta-galactosidase def
15
Q
neurological decline, a cherry-red spot on the macula, blindness, deafness, and developmental delay.
A
Tay-sachs (beta-hexosaminidase A def)
16
Q
myoclonus, gait abnormalities, cherry-red macules, coarse facial features, skeletal malformations and mild intellectual disability.
A
Neuroaminidase def
17
Q
Steroid sulfatase def (XR)
A
ichthyosis, or hyperkeratosis of the skin with scaling, corneal opacification, ADHD, and cryptorchidism
18
Q
Reason for neonatal hyperoxygenation (in premature infants)
A
ROP (protection of retina)
19
Q
Fluoroquinolone example and mechanism of action
A
Ciprofloxacin, inhibition of DNA gyrase =topoisomerase
20
Q
Rifampin mechanism of action
A
Inhibits RNA polymerase (mRNA synthesis)
21
Q
Metronidazole mechanism of action
A
Inhibition of DNA integrity (free radicals)
22
Q
TMP-SMX mechanism of action
A
Inhibition of DNA methylation
23
Q
Side effects of beta2-adrenergic agonists
A
essential tremor, hyperglycemia, tachycardia, hypertension, headache, hypokalemia
24
Q
Neonatal conjunctivitis prophylaxis
A
silver nitrate or erythromycin (inhibits 50s ribosomal subunit, protein synthesis)
25
Lack of CD18
leukocyte adhesion def: no migration
26
Baby with a 3day fever then a rash
HHV-6: roseola
27
Pruritus worst at night and erythematous papules with burrows + Tx
scabies. Tx:permethrin cream, oral ivermectin
28
PCA occlusion
ipsilat. occipital lobe- contralateral visual field deficit with macular sparing
29
PICA lesion
Sx: horsness, dysphagia, ipsilat horner syn., decreased gag reflex, nystagmus.
called wallenberg/ lat medullary syndrome
30
anti-GpIIb/IIIa antibody
Immune thrombocytopenic purpura
31
NNT
NNT=1/ARR= 1/ (risk control - risk tx)
32
acyclovir, valacyclovir, and famcyclovir mechanism of action
inhibit viral DNA polymerase, classically by guanosine analogs (must be phosphorylated by thymidine kinase)
33
Pulmonary embolism ECG changes
Sinus tachy, "S1T3Q3", right axis deviation (if right heart strain)
34
peroxisome role
oxidation of VLCFA and of branched-chain fatty acid
if deficient: increased phytanic acid (shortened 4th toe)
35
necrotizing vasculitis, granulomas, and eosinophilic necrosis.
Churg-Strauss syndrome or eosinophilic granulomatosis with polyangiitis: a small-vessel vasculitis
36
Aripiprazole
D2 partial agonist (2nd gen antipsych)
Other 2nd gen antipsych are reversible antagonists.
37
XR
glucose-6-phosphate dehydrogenase deficiency. Duchenne and Becker muscular dystrophy, and hemophilia A and B. Fabry. Hunter
38
XD
Fragile X syndrome, Alport syndrome, incontinentia pigmenti, hypophosphatemic rickets, and Rett syndrome.
39
Mitochondrial inheritance
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
AD
| 10
Huntington disease, myotonic dystrophy, tuberous sclerosis, marfan, MEN, NF1, NF2, Li-fraumeni, VHL, achondroplasia
41
Cilostazol: use and mechanism of action
used for peripheral artery disease. It inhibits PDE3 (decreases platelet activation) and induces vasodilation.
42
VHL (ch3)
(AD), Hemangioblastomas (retina/CNS), tumors of pancreas and renal clear cell carcinoma, pheochromocytoma
43
non caseating granuloma, bilat hilar adenopathy, increased Ca2+, increased ACE,
Sarcoidosis (Type IV hypersensitivity)
44
Non polar amino acids
Gly, Ala, Val, Leu, Ile, Methionine, Phe, Pro, Tryptophan
Hydrophobic (transmembrane domain)
44
Basic amino acids +
Lys, Arg, His
44
Acidic amino acids -
Asp, Glu
45
Class IA antiarrythmics (moderate Na channel antag)
Quinidine, procainamide, disopyramide
46
Class IB antiarrythmics (weak Na channel blockage)
Lidocaine, phenytoin, mexiletine.
47
Class IC antiarrythmics (strong Na channel blockage)
Flecainide, propafenone.
48
AR
| 9
PKU, cystic fibrosis, sickle cell, wilson, hemochromatosis, glycogen storage, thalassemia, freidreich ataxia, kartagener (primary ciliary diskinesia),
49
Biceps brachii actions
Flexion of the elbow, supination of the forarm
50
Diverticula most common location
sigmoid colon (smaller diameter, increased pressure during peristalsis)
51
Split s2
Wide: pulmo stenosis, pulmo HTN, RBBB, VSD, ASD (fixed throughout resp)
Narrow: aortic stenosis, HTN, LBBB, Hypertrophic cardiomyopathy
52
Argininosuccinate
In urea cycle (citrulline + Asp = Argininosuccinate = Arginine + Fumarate)
Deficiency in Argininosuccinate Lyase (AR), results in argininosuccinic aciduria.
53
Malabsorption (diarrhea), muscle weakness, retinitis pigmentosa, spinocerebellar degeneration, blindness, mental retardation, acanthocytes (RBC).
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
Pituitary adenoma Tx
Dopamine agonists (bromocriptine, cabergoline) , transsphenoidal resection
55
Succinate dehydrogenase
=complex II
succinate to fumarate (TCA cycle), yields FADH2
56
Cyanide/ CO poisoning
MOA, Sx for each
Inhibit complex IV of the electron transport chain (cytochrome c oxidase).
Cyanide sx: almond odor, elevated lactate, anion gap met acid, cherry red skin. Can be caused by sodium nitroprusside due to NO releasing cyanide.
CO (competitive binding to heme) sx: left shift of ODC, cherry red skin with bullous skin lesions.
57
Deficit in pain and temperature sensation and LMN dysfunction in the bilateral upper extremities
Syringomyelia : cystic, fluid-filled, gliosis-lined cavity within spinal cord.
Associated with Chiari I
58
LMN lesion
weakness, fasciculation, flaccid paralysis, hypotonia, mm atrophy, absent reflexes
59
UMN lesion
spastic paralysis, clasp-knife rigidity, hyperreflexia, positive babinski
ex: internal capsule stroke
60
Cataracts, early balding in males, Gonadal atrophy, muscle wasting, difficulty releasing from handshake
Myotonic dystrophy AD. CTG trinucleotide repeat in DMPK gene.
Dysfunctional DNA mismatch repair.
Trinucleotide repeat susceptible for anticipation.
61
Angioedema, low C2 and C4 levels, no urticaria, increased bradykinin
hereditary angioedema AD (C1 esterase inhibitor def)
ACE inhibitors contraindicated (-pril)
62
Isoniazid:
- MOA
- CYP450
- Coenzyme needed
- Overdose Sx
- 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
Epididymitis
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
MODY/ gestational diabetes
-Enzyme def?
Glucokinase deficiency
MODY AD
In gestational diabetes (also hPL creates insulin resistance)
65
Bosentan
Use: Pulmo HTN
MOA: inhibit endothelin-1 receptor
66
Cabergolin
Dopamine agonist (for pituitary adenomas)
67
Leuprolide
GnRH analog
68
Octreotide
Somatostatin analog (used for secretory diarrheas in VIPoma and carcinoid syndrome) and to reduce portal HTN
69
Bupropion
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
Radiolucent osteolytic lesion
Metastasis from:
- multiple myeloma
- non-hodgkin
- non-SCLC
- RCC
- Melanoma
71
Radio-opaque osteoblastic lesion
Metastasis from:
- Prostate
- SCLC
- Hodgkin
72
Tx of drug-induced parkisonism
Anticholinergic: benztropine
73
Orotic aciduria
AR- UMP synthase def
Sx: increased urinary orotic acid, megaloblastic anemia
74
Severe combined immunodeficiency
- IL-2 receptor mutation
- adenosine deaminase def (tx: retroviral gene therapy, stem cell transplant)
Thymic hypoplasia or aplasia.
75
Gingival hyperplasia (caused by)
cyclosporins, Ca channel blockers (-dipines and diltiazem, verapamil) , phenytoin
76
Fulminant hepatitis in pregnant women
Hep E (naked ssRNA), fecal-oral transmission and acute illness (like HepA), high mortality in pregnant women
77
alpha1 blocker
doxazosin, prazosin, terazosin, (tamsulozin- uroselective)
78
NK cell activated by
NK cells target
INF + IL-12 + IL-2 or CD16 binding of IgG
Cells with no (or decreased) MHC I expression. Ex: virus infected/ tumor cells.
79
Vimentin
Mesenchymal tissue (ex: fibroblasts, endothelial cells, macrophages)
80
IL-1
osteoclast activating factor
81
Burton tyrosine kinase (BTK)
X-linked agammaglobulinemia
82
Acbiximab
Ab against platelet IIb/IIIa receptor
83
Rapid overcorrection of hyponatremia
Osmotic demyelination syndrome: pons are affected. "locked-in syndrome"
Can also occur with rapid glucose correction
84
Hemiballismus
Lacunar stroke of contralateral subthalamic nuclei -> controls the basal ggl -> no inhibition of thalamus ->
85
Dry skin, photosensitivity (prolonged severe sunburn), skin cancer
Xeroderma pigmentosum - DNA nucleotide excision repair defective (inability to repair DNA pyrimidine dimers)
86
Lynch (HNPCC) mechanism
Mismatch repair leading to instability of microsatellite regions of the genome
87
Metencephalon
Gives rise to cerebellum and pons
Dandy walker syndrome
88
Varenicline
partial agonist of nAchR.
Used for smoking cessation
89
Neuropathic pain Tx
TCA, SNRI
90
γ-glutamyl transpeptidase (GGT)
Increased in liver and bile diseases but NOT in bone disease
(determining factor when alkaline phosphatase high, can from cholestasis/bone)
91
Allergic Rhinitis Tx
Alpha1 agonist (phenylephrine)
92
Oligodendrocytes
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)
93
Clopidogrel, ticagrelor
Block ADP (P2Y12) receptor (decrease GpIIb/IIIa expression -> decreased platelet aggregation)
94
PKU
def in phenylalanine hydroxylase (cofactor tetrabiopterin BH4) which normally converts phenylalanine to tyrosine
95
MAO inhibitors
(Ex, MOA, Uses, side effects)
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).
96
CCR5 inhibitor (HIV)
maraviroc
97
Fusion inhibitor (HIV)
enfuviritide
98
Protease inhibitor (HIV)
-navir (protein processing)
99
NRTI (HIV)
-vudine
100
ADPKD (AD polycystic kidney disease)
Polycystin mutation (PKD)
101
Desmin
Muscles (intermediate filaments)
102
Vaginal atrophy
decreased estrogen (negative feedback of prolactin on GnRH in breastfeeding women)
103
Melanoma in african americans
acral lentiginous- distal extremities, not related to UV radiation: finger, palms, soles, and toes.
104
Small cell lung cancer
Central location, Neuroendocrine tumor (neuron-specific enolase marker and Chromogranin/ synaptophysin stain).
associated with SIADH, Cushing syndrome (ACTH), Lambert-Eaton, encephalitis
105
GLUT 5
Found in GI tract and spermatocytes, absorb fructose (insulin-independent).
106
Tyrosine hydroxylase def
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)
107
Alpha-synuclein
Parkinson (Cells called Lewy bodies: circular eosinophilic inclusion) in substantia nigra
108
Type III hypersensitivity reaction
(immune complex-mediated 3; circulating Ag-Ab-complement that deposit in tissues)
ex: SLE, drug-induced serum sickness, RA, IgA vasculitis, PSGN,
109
Type II hypersensitivity reaction
(Ab bind to cell-surface Ag)
ex: Acute rheumatic fever (Step pyogenes), MG, Graves, autoimmune hemolytic anemia...
110
Type IV hypersensitivity reaction
(Cell mediated with Ag specific CD8+ and CD4+ T cells)
ex: Graft-vs-host disease, PPD test, allergic contact dermatitis
NO Ab needed
111
Tamoxifen
Selective estrogen receptor modulator
112
VACTERL
Association (mesodermal defects):
Vertebral, Anorectal atresia, Cardiac, Tracheoesophageal fistula, Esphageal, Renal/ Radial, Limb
113
epithelial Na+ channel inhibitors (collecting tubules)
Amiloride, Triamterene
(K-sparing)
114
Dermatomyosis
Paraneoplastic syndrome of adenoma or alone
115
Hypogastric artery (other name)
Internal iliac a
116
Polyarteritis nodosa
"beads on a string", predisposing factor HepB and HepC.
117
Turner Syndrome
meiotic nondisjunction during gametogenesis
118
Micrognathia, low set ears, clenched fists (overlapping fingers), congenital heart, prominent occiput, rocker-bottom feet
Trisomy 18, Edwards
119
Dextrocardia
Kartagener, AR (dynein arm defect)
120
Akathesia
restlessness
121
Nitrates MOA
Venodilators: increased NO -> increased cGMP -> smooth muscle relax
122
Bilateral feet/hand edema, bilateral conjunctivitis, rash, mucositis, cervical lymphadenopathy, fever >5days
Kawasaki
More prominent in Asians
Risk for coronary aneurysm
123
anti-smooth muscle Ab
Autoimmune hepatitis
124
cystathionine synthase deficiency
Homocystinuria (AR): lens dislocation (down and in), intellectual disabilities, marfan. Risk for thrombosis.
Cofactor B6 (pyridoxine)
125
Teriparatide
Recombinant PTH analog (increase osteoblast proliferation)
126
Receptor tyrosine kinase
MAP pathway
IGF-1, FGF, EGF, PDGF, Insulin
127
Non-receptor tyrosine kinase
JAK-STAT pathway
GH, Prolactin, G-CSF, Erythropoietin, Thrombopoietin, Immunomodulators (ex: cytokines IL-2, IL-6, IFN) .
128
Positive heterophiles Ab production
EBV
Ab can be sheep/horse and will react/agglutinate with the patient's RBC
129
Cause of Lithium toxicity
NSAIDs, Thiazides diuretics, ACEi, Metronidazole, Tetracycline
(decreased kidney clearance of lithium)
130
resistant to degradation by protein C
Factor V leiden mutation
131
Achondroplasia
AD, no carrier status (as homozygous is lethal).
132
Connexin
Gap Junction
