NBME 13 Review Deck Flashcards

1
Q

examples of Imprinting

A

Prader Willi (Chr 15; Paternal allele); Angelmans (Chr 15; maternal allele; UBE3A)

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2
Q

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease

A

Heteroplasmy: mitochondrial inheritance pattern

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3
Q

myopathy, lactic acidosis, and CNS disease, and MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like symptoms); Failure of oxidative phosphorylation with a muscle biopsy showing “Ragged red fibers”

A

Mitochondrial myopathy; heteroplasmy

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4
Q

Cell death in optic nerves of neurons–> subacute bilateral vision loss in teens/ young adults; mostly males and its usually permanent

A

Leber Hereditary Optic Neuropathy; Mitochondrial inheritance pattern; heteroplasmy

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5
Q

Unilateral Cafe-au last spots with ragged edges, polyostotic fibrous dysplasia (bone replaced by collagen and fibroblasts), and at least one endocrinopathy (precocious puberty)

A

McCune-Albright Syndrome- G-protein signaling mutation that can either be caused by germline (if parents not affected) mosaics or somatic

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6
Q

Treatment of cestode and trematode infections by increasing cell permeability of Ca2+ leading to paralysis, dislodgment and death of the parasite.

A

Praziquental

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7
Q

This drug treats trematode and cestode infections by binding the coaching-sensitive site in beta-tubulin inhibiting polymerization of microtubules

A

Albendazole

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8
Q

OD: Euphoria, grandiosity, pupillary dilation, prolonged wakefulness and attention, hypertension, tachycardia, anorexia, paranoia and fever.

A

Amphetamines

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9
Q

OD: Flushed skin, pupillary constriction, watery eyes, runny nose, itchy skin, irrationality, overly relaxed.

A

Heroin

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10
Q

OD: Impaired judgement, pupillary dilation, hallucinations (can be tactile), paranoid ideations, angina, sudden death.

A

Cocaine

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11
Q

OD: Violence, impulsivity, psychomotor agitation, nystagmus, tachycardia, hypertension, analgesia, psychosis, delirium, seizures; trauma is a often a complication

A

Phencyclidine (PCP)

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12
Q

OD: perceptual distortion (visual or auditory), depersonalization, anxiety, paranoia, psychosis, possible flashbacks.

A

Lysergic Acid Diethlamide (LSD)

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13
Q

OD: Euphoria, anxiety, paranoid delusions, perception of slowed time, impaired judgement, social WD, Increased appetite, dry mouth, conjunctival injection, hallucinations,

A

Marijuana

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14
Q

OD: teeth clenching, euphoria, disinhibition, hyperactivity, distorted sensory and time perception. Life-threatening effects include HTN, tachycardia, hyperthermia, hyponatremia, and serotonin syndrome; Releasing agent of 5HT, NE and DA.

A

MDMA

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15
Q

MOA of Cisplatin + SAEs; preventing of Nephrotox x

A

ototoxicity (gong), nephrotoxicity (ATN gutter and AKI purse), Myelosuppression (empty bone box), peripheral nephropathy (stocking glove); Nephrotox prevented with Amifostine

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16
Q

inability to form Hydroxy-Halides is due to a deficiency in which enzyme of the respiratory burst pathway.

A

Myeloperoxidase

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17
Q

Deficiency in this enzymes leads to an inability to form Hydrogen Peroxide

A

Superoxide Dismutase

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18
Q

Failure of tetrazolium dye reduction test (obsolete) fails to turn blue

A

Chronic Granulomatous disease

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19
Q

Three major female hormones

A

Estradiol> estrone> estriol

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20
Q

Differentiation of epididymis, vas deferens, seminal vesicles; growth spurt: penis, seminal vesicles, sperm , muscle and RBCs; Deepening of voice; closing of epiphyseal plates through the peripheral conversion to estrogen; libido (including erection)

A

Testosterone

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21
Q

Early differentiation of penis scrotum and prostrate; Late–> prostate growth, balding sebaceous gland activity

A

DHT

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22
Q

Hematuria in the absence of colicky painful

A

Bladder Cancer

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23
Q

Atrophic tubules with cortical scaring, blunted calyces; mimics thyroid follicles

A

Chronic Pyelonephritis; secondary to Vesiculureter reflux

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24
Q

Colicky pain, with unilateral flank pain and hematuria

A

nephrolithiasis (Typically CaOx)

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25
Q

Grossly orange nodules caused by proteus infection that can mimic tumor nodules; associated with widespread kidney damage caused by granulomatous tissue containing foamy macrophage

A

Xanthogranulomatous pyelonephritis

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26
Q

SAEs of cyclophosphamide

A

Hemorrhagic cystitis (tx with mesna); transitional Cell carcinoma/ urothelial cell carcinoma with long term use; bone marrow suppression; early menopause in women and azoospermia in men

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27
Q

Spiny RBCs (Acanthocytosis), retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, and low cholesterol

A

Abetalipoproteinemia; autosomal recessive; ApoB-100 and ApoB-48 deficiency

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28
Q

Pancreatitis, hepatosplenomegaly, eruptive/ pruritic xanthomas and creamy layer in supernatant; elevated TG, Chol, and Chylos

A

Hyperchylomicronemia associated with a ApoC-II deficiency

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29
Q

Absent or defective LDL receptors or defective ApoB-100

A

Familiarl Hypercholesterolemia; Autosomal dominant

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30
Q

Premature atherosclerosis, tuberoeruptive xanthomas, palmar xanthomas

A

Dysbetalipoproteinemia associated with defective ApoE and is autosomal recessive

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31
Q

Hypertriglyceridemia leading to acute pancreatitis

A

Hypertriglyceridema due to hepatic overproduction of VLDLs

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32
Q

Pituitary ACTH production leads to bilateral _______ of the adrenal glands; Also associated with 21Alpha Hydroxylase Deficiency

A

hyperplasia

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33
Q

Locations of thoracocentesis

A

Between the 5 and 7th ICS at the mid-calvicular line anteriorly (above the rib); between the 7 and 9th ICS at the midaxillary line ABOVE THE RIB; and at 9 and 11 ICS mid scapular, posterior and above the rib

34
Q

Voluntary Social withdrawal (Aloof), limited emotional expression, content with social isolation

A

Schizoid; Cluster A personality disorder

35
Q

Hypersensitive to rejection, socially inhibited, timid, feelings of inadequacy, desires relationship with others

A

Avoidant; closer C personality disorder

36
Q

Bence Jones protein

A

multiple Myeloma

37
Q

interleukins that mediate cachexia

A

TNF, IFN-gamma, IL-1, and IL-6

38
Q

Treatment for overdose of ethylene glycol

A

Fomepizole (Alcohol Dehydrogenase Inhibitor)

39
Q

Inihibits acetaldehyde dehydrogenase leading to symptoms of hangover due to the accumulation of acetaldehyde

A

Disulfram

40
Q

Increased LES tone with uncoordinated or absent esophageal peristalsis

A

Achalasia; A-Chalasia absent relaxation; absence of aurebach plexus

41
Q

Decreased LES tone, decreased esophageal motility, taut skin, finger pitting

A

CREST Syndrome

42
Q

Anti-centromere Anti-body

A

CREST syndrome

43
Q

Anti-DNA Topoisomerase I antibody

A

Diffuse scleroderma

44
Q

This structure covers the surface of the bone and functions to deliver nutrients from the blood to the bone marrow.

A

periosteum

45
Q

Space between osteon

A

Lamella

46
Q

Inhibit production of NAD+ in the electron transport chain

A

Rotenone; inhibits complex I

47
Q

Inhibits complex III in the electron transport chain

A

Antimycin A

48
Q

Inhibits Complex IV in the electron transport change preventing the formation of O2

A

Cyaninide, CO, and Azide

49
Q

inhibiting of complex V in the electron transport change leading to decreased levels of ATP and an increase in the proton gradient.

A

Oligomycin

50
Q

Uncoupling agents of ETC that leads to increased membrane permeability, decreased proton gradient, and increased O2 consumption; ATP production stops but ETC continues.

A

2,4-Dinitrophenol, ASA OD, Thermogenin in brown fat

51
Q

What is the polyadenylation signal in a eukaryotic gene

A

AATAAA

52
Q

vWF binds to which receptor on the endothelial cell surface

A

Gp1b

53
Q

Monoclonal antibody that binds GpIIb/IIIa on the surface of platelets prevents the binding of what substance

A

fibrinogen

54
Q

ADP binds to which receptor on the platelet surface

A

P2Y12

55
Q

A study that demonstrates a high statistical power is associated with what kind of error?

A

Type II error; stating that there is no effect or difference when one does exist.

56
Q

Type of error that involves P values (p= 0.05)

A

Type I error/ False positive error: stating that there is a difference when none exists.

57
Q

SAEs of Metformin

A

Lactic acidosis (beware of renal insufficiency; this can exacerbate), weight loss, GI upset, B12 deficiency

58
Q

how sickling occurs in Sickle cell anemia

A

low O2, high altitude, or acidosis causes deoxygenated HbS to polymerize leading to anemia and vaso-occlusive disease

59
Q

Dysarthria, dysphagia, asymmetric limb weakness, fasciculations, atrophy

A

ALS: Corticospinal and anterior horn degeneration

60
Q

Stimulationof receptor that cause pupillary dilator muscle contraction leading to mydriasis

A

Alpha-1

61
Q

Stimulation of receptor that decreases uterine Tone

A

Beta-2

62
Q

intentionally withholding an idea or emotion from conscious awareness

A

Suppression

63
Q

unintentionally withholding an idea or emotion from conscious awareness

A

Repression

64
Q

Stones most commonly associated with recurrent UTI and urease positive bugs

A

Struvite/ Ammonium magnesium phosphate

65
Q

ingestion of antifreeze, excess vitamin C, malabsorption is associated with what type of stone formation

A

Calcium (Oxolate or phosphate); phosphate less common

66
Q

Which lung cancer most commonly arises in nonsmokers

A

Adenocarcinoma (Associated with KRAS, EGFR, and ALK mutations)

67
Q

What is the leading cause of death in women

A

heart disease (men and women)

68
Q

projecting ones thoughts or feelings to a person that does not actually have them

A

Projection; immature defense.

69
Q

Nausea, gi upset, hyperkalemia, EKG abnormalities

A

Digoxin

70
Q

newborn with failure to thrive, infantile cataracts, jaundice, hepatomegaly, intellectually disability; predisposes to E coli sepsis in neonates

A

uridyltransferase deficiency in Galactose pathway results in elevated Galatactose-1-Phosphate

71
Q

hypotonic infant with reducible umbilical hernia, enlarged tongue, and large fontanelle

A

congenital Hypothyroidism

72
Q

Cytokine that causes cachexia in malignancy

A

TNF-Alpha

73
Q

acetaminophen overdose, Carbon tetrachloride, metal storage diseases, bronchopulmonary dysplasia, and retinopathy of prematurity are examples of what kind of cellular damage

A

free radical injury

74
Q

What drug should be administered to an infant with newly diagnosed Sickle Cell Anemia

A

Hydroxyurea

75
Q

Proteins involved in the RBC membrane defects seen in hereditary spherocytosis

A

Ankyrin, band 3, protein 4.2, spectrin

76
Q

Increased HbF with total decreased Hb; short stature, craniofacial abnormalities, upper extremity malformations (triphalangeal thrumbs)

A

Diamond Blackfan: intrinsic defect in erythroid progenitors

77
Q

short stature, cafe-au-lait spots, thumb/radial defects; increased incidence of tumors/ leukemia, Aplastic Anemia

A

Fanconi Anemia

78
Q

Defect in non-homologous end joining in DNA repair

A

Fanconi Anemia;

79
Q

mechanism of Negative Selection in T cell maturation and where does it occur

A

Occurs in medullar; T cells with high affinity for self-antigens undergo apoptosis

80
Q

Mechanism of positive selection in T Cell maturation, Where does it occur?

A

Occurs in the cortex; T cells capable of binding self-MHC on the surface of cortical epithelial cells survive

81
Q

Pyrrolidonyl (PYR) + bacteria

A

Strep Pyogenes, Enterococcus

82
Q

Inflammtory and immune response to increased cortisol

A

Neutrophil leukocytosis, inhibition of PG and leukotrienes, Blocking histamine release from mast cells, Eosinopenia, lymphopenia, blocks Il-2 production