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USMLE Step 1 > Behavior, Biostats, Genetics > Flashcards

Behavior, Biostats, Genetics Flashcards

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USMLE® Step 1 flashcards
1
Q

What are xanthomas? And sign of?

A

Lipid plaques/nodules on the eyelids; hyperlipidemia

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2
Q

What is the inheritance pattern of familial hypercholesterolemia?

A

autosomal dominant (either parent has it = 100% inheritance)

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3
Q

What is schizoid personality?

A

Cold, distant, fears close relationships

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4
Q

What is histrionic personality?

A

theatrical/attention-seeking, child-like emotions w sexual overlay; inability to maintain long-lasting relationships

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5
Q

What is identification (defense mech)?

A

Unconscious adoption of characteristics of another person (wearing dead brother’s jacket)

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6
Q

What is reaction formation (defense mech)?

A

Adopting behavior opposite to one’s true feelings (hitting a girl you like)

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7
Q

What is sublimation (defense mech)?

A

Diverting unacceptable actions into acceptable outlets (aggression into contact sports)

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8
Q

What is a side effect of electroconvulsive treatment (ECT)?

A

Memory loss before and after the event; cardio problems are greatest concern

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9
Q

NF-2 gene is located on which chromosome?

A

22q (notice the 2s)

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10
Q

General rule of inheritance for autosomal dominant diseases?

A

1 affected parent = 50% chance for offspring

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11
Q

What are key characteristics of Edwards Syndrome?

A
  • Trisomy 18

- clenched fists, prominent occiput, low-set ears

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12
Q

What are key characteristics of Patau Syndrome?

A
  • Trisomy 13

- small head/eyes, cleft lip and palate, polydactyly

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13
Q

How do you calculate NPV?

A

TN/(all Negs)

All negs = TN + FN

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14
Q

How do you calculate PPV?

A

TP/(all Pos)

All Pos = TP + FP

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15
Q

Define and calculate Sensitivity.

A

Def: true positive rate

= TP/(TP+FN)

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16
Q

Define and calculate Specificity.

A

Def: true negative rate

= TN/(TN+FP)

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17
Q

How does prevalence affect NPV?

A

Inverse relationship: Dec prevalence = Inc NPV

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18
Q

How does prevalence affect PPV?

A

Direct relationship: Dec prevalence = Dec PPV

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19
Q

What is a type II error (Beta)? And how is it calculated?

A

Saying is there no difference, but it does exist.

1-Power

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20
Q

Describe body dismorphic disorder.

A

Preoccupied with imagine bodily defect or exaggerated distortion of minor defect
-disrupts day-to-day activities

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21
Q

What type of mutation causes Duchenne’s (DMD)?

A

Frameshift mutation of Dystrophin gene

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22
Q

Which lab test can best indicate recent alcohol use?

A

Serum gamma glutamyl transferase (GGT)

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23
Q

When to use clomipramine (TCA)?

A

When OCD is unresponsive to SSRI (first choice)

24
Q

What is relative risk (RR) and how is it calculated?

A

def: incidence in one grp compared to another
calc: incidence rate grp 1/ incidence rate grp 2

25
Q

How can you tell is nondisjunction occurred in meiosis I or II?

A

I: 2 different alleles inherited together (A&C)
II: 2 copies of same allele inherited together (AA or CC)

26
Q

Which psych drug is contraindicated in pts w thrombocytopenia?

A

Valproic Acid

27
Q

Which benzo is preferred for alcohol withdrawal in pt with liver disease?

A

LOT: Lorazepam, Oxazepam, Tamazepam

28
Q

Which neurotransmitter induces REM sleep?

A

Acetylcholine

29
Q

When is chi-square used?

A

comparing 2 or more CATEGORIES of outcomes

30
Q

How long does normal grief last?

A

up to 1yr (can resolve at 6mos)

31
Q

What are the hallmarks of Fabry disease?

A
  • only lysosomal that X-linked
  • red-purple skin blemishes + cloudy corneas
  • def alpha-glucosidase A
32
Q

What is the genetic abnormality in DiGeorge Syndrome?

A

Deletion on chromosome 22q11

33
Q

What is confounding bias?

A

Factor being examined is related to other factors of less interest (factory workers smoking)

34
Q

What is the schizophrenia timecourse?

A

6mo (-phrenia)

35
Q

How are case-control studies analyzed?

A

Odd ratio: (A/C)/(B/D) or (AxD)/(BxC)

Diseases ppl w RF:Diseased ppl w/o) / (Non-diseased w RF: Non-diseased w/o

36
Q

What are the characteristics of a manic episode?

A

DIG FAST:
Distractabiity
Irresponsibility
Grandiosity

Fast thoughts
Activity increase (hypersexuality)
Sleeplessness
Talkability

37
Q

What is locus heterogeneity? and the probability of passing the mutation to offspring?

A

Similar phenotype caused by different gene loci (albinism); 0%

38
Q

What is the APGAR scale?

A 
For newborns, 1min after birth, 5min after birth
2pts per category, 10pt max
Appearance
Pulse
Grimace
Activity
Respiration
39
Q

What is ANOVA?

A

one-way analysis of variances that compares means of 2 or more groups

40
Q

What are the symptoms of Major Depressive Disorder?

A 
SIG-E-CAPS:
Sleep changes
Interest lost
Guilt
Energy lack
Concentration
Appetite
Psychomotor anxiety
Suicide
41
Q

What are the signs of Fragile X Syndrome?

A

eXtra large testes, jaw, ears (intellectual disability)

42
Q

What is the treatment of choice for autism spectrum disorder?

A

behavioral therapy

43
Q

What is the inheritance pattern for alpha-thalasemia?

A

1 deletion = benign carrier
2 deletions = mild, microcytic anemia (target cells)
3 deletions = HbH disease (target cells + Heinz bodies)
4 deletions = hydrops fetalis

44
Q

What is incomplete penetrance?

A

Inheritance of the diseased allele does not result in diseased phenotype

45
Q

What is conversion disorder?

A

Loss of sensory or motor function following an acute stressor; indifference towards symps; women

46
Q

What are the mutations in angelMan and Praderwili?

A

microdeletion in chromosome 15

angelMan = maternal, Praderwilli = paternal

47
Q

What is the hallmark of delusional disorder?

A

characterized by one or more FIXED and unshakeable delusions; >1mo

48
Q

What is a case series study?

A

Observational study that collects info from pts with specific disease; no control

49
Q

What are the classic symptoms of narcolepsy?

A

hypnagogic hallucinations (falling asleep), hypnopompic hallucinations (awakening), sleep paralysis, cataplexy

50
Q

What are the standard deviations of a normal distribution?

A

1 SD= 68% (or 34%)
2 SD= 95.5% (+13.5%)
3 SD= 99.7% (+2.4%)

51
Q

What are the hallmarks of stage 2 sleep?

A

Spindles(short, high frequency burst) and K-complexes(high amplitude single spike + trough)

52
Q

What is heteroplasmy and its hallmark?

A

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease
-passed to 100% of offspring

53
Q

What differentiates hypochondriasis from somatoform?

A

hypo: disproportional fear of serious disease
somato: indifference towards disease

54
Q

What are the adult defense mechanisms?

A 
Mature adults wear a SASH: 
Sublimation, 
Altruism, 
Suppression, 
Humor.
55
Q

Whats the difference between schizoid and avoidant?

A 
Schizoid = like being alone
avoidant = desires relationships

USMLE Step 1 (13 decks)

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