Behavior, Biostats, Genetics Flashcards
What are xanthomas? And sign of?
Lipid plaques/nodules on the eyelids; hyperlipidemia
What is the inheritance pattern of familial hypercholesterolemia?
autosomal dominant (either parent has it = 100% inheritance)
What is schizoid personality?
Cold, distant, fears close relationships
What is histrionic personality?
theatrical/attention-seeking, child-like emotions w sexual overlay; inability to maintain long-lasting relationships
What is identification (defense mech)?
Unconscious adoption of characteristics of another person (wearing dead brother’s jacket)
What is reaction formation (defense mech)?
Adopting behavior opposite to one’s true feelings (hitting a girl you like)
What is sublimation (defense mech)?
Diverting unacceptable actions into acceptable outlets (aggression into contact sports)
What is a side effect of electroconvulsive treatment (ECT)?
Memory loss before and after the event; cardio problems are greatest concern
NF-2 gene is located on which chromosome?
22q (notice the 2s)
General rule of inheritance for autosomal dominant diseases?
1 affected parent = 50% chance for offspring
What are key characteristics of Edwards Syndrome?
- Trisomy 18
- clenched fists, prominent occiput, low-set ears
What are key characteristics of Patau Syndrome?
- Trisomy 13
- small head/eyes, cleft lip and palate, polydactyly
How do you calculate NPV?
TN/(all Negs)
All negs = TN + FN
How do you calculate PPV?
TP/(all Pos)
All Pos = TP + FP
Define and calculate Sensitivity.
Def: true positive rate
= TP/(TP+FN)
Define and calculate Specificity.
Def: true negative rate
= TN/(TN+FP)
How does prevalence affect NPV?
Inverse relationship: Dec prevalence = Inc NPV
How does prevalence affect PPV?
Direct relationship: Dec prevalence = Dec PPV
What is a type II error (Beta)? And how is it calculated?
Saying is there no difference, but it does exist.
1-Power
Describe body dismorphic disorder.
Preoccupied with imagine bodily defect or exaggerated distortion of minor defect
-disrupts day-to-day activities
What type of mutation causes Duchenne’s (DMD)?
Frameshift mutation of Dystrophin gene
Which lab test can best indicate recent alcohol use?
Serum gamma glutamyl transferase (GGT)
When to use clomipramine (TCA)?
When OCD is unresponsive to SSRI (first choice)
What is relative risk (RR) and how is it calculated?
def: incidence in one grp compared to another
calc: incidence rate grp 1/ incidence rate grp 2
How can you tell is nondisjunction occurred in meiosis I or II?
I: 2 different alleles inherited together (A&C)
II: 2 copies of same allele inherited together (AA or CC)
Which psych drug is contraindicated in pts w thrombocytopenia?
Valproic Acid
Which benzo is preferred for alcohol withdrawal in pt with liver disease?
LOT: Lorazepam, Oxazepam, Tamazepam
Which neurotransmitter induces REM sleep?
Acetylcholine
When is chi-square used?
comparing 2 or more CATEGORIES of outcomes
How long does normal grief last?
up to 1yr (can resolve at 6mos)
What are the hallmarks of Fabry disease?
- only lysosomal that X-linked
- red-purple skin blemishes + cloudy corneas
- def alpha-glucosidase A
What is the genetic abnormality in DiGeorge Syndrome?
Deletion on chromosome 22q11
What is confounding bias?
Factor being examined is related to other factors of less interest (factory workers smoking)
What is the schizophrenia timecourse?
6mo (-phrenia)
How are case-control studies analyzed?
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
What are the characteristics of a manic episode?
DIG FAST:
Distractabiity
Irresponsibility
Grandiosity
Fast thoughts
Activity increase (hypersexuality)
Sleeplessness
Talkability
What is locus heterogeneity? and the probability of passing the mutation to offspring?
Similar phenotype caused by different gene loci (albinism); 0%
What is the APGAR scale?
For newborns, 1min after birth, 5min after birth 2pts per category, 10pt max Appearance Pulse Grimace Activity Respiration
What is ANOVA?
one-way analysis of variances that compares means of 2 or more groups
What are the symptoms of Major Depressive Disorder?
SIG-E-CAPS: Sleep changes Interest lost Guilt Energy lack Concentration Appetite Psychomotor anxiety Suicide
What are the signs of Fragile X Syndrome?
eXtra large testes, jaw, ears (intellectual disability)
What is the treatment of choice for autism spectrum disorder?
behavioral therapy
What is the inheritance pattern for alpha-thalasemia?
1 deletion = benign carrier
2 deletions = mild, microcytic anemia (target cells)
3 deletions = HbH disease (target cells + Heinz bodies)
4 deletions = hydrops fetalis
What is incomplete penetrance?
Inheritance of the diseased allele does not result in diseased phenotype
What is conversion disorder?
Loss of sensory or motor function following an acute stressor; indifference towards symps; women
What are the mutations in angelMan and Praderwili?
microdeletion in chromosome 15
angelMan = maternal, Praderwilli = paternal
What is the hallmark of delusional disorder?
characterized by one or more FIXED and unshakeable delusions; >1mo
What is a case series study?
Observational study that collects info from pts with specific disease; no control
What are the classic symptoms of narcolepsy?
hypnagogic hallucinations (falling asleep), hypnopompic hallucinations (awakening), sleep paralysis, cataplexy
What are the standard deviations of a normal distribution?
1 SD= 68% (or 34%)
2 SD= 95.5% (+13.5%)
3 SD= 99.7% (+2.4%)
What are the hallmarks of stage 2 sleep?
Spindles(short, high frequency burst) and K-complexes(high amplitude single spike + trough)
What is heteroplasmy and its hallmark?
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease
-passed to 100% of offspring
What differentiates hypochondriasis from somatoform?
hypo: disproportional fear of serious disease
somato: indifference towards disease
What are the adult defense mechanisms?
Mature adults wear a SASH: Sublimation, Altruism, Suppression, Humor.
Whats the difference between schizoid and avoidant?
Schizoid = like being alone avoidant = desires relationships
