WEEK1

Question 1

Triad of DiGeorge syndrome

Answer 1

cardiac defects, hypoplastic thymus, hypocalcemia

Question 2

long face, big ears, macroorchidism

Answer 2

Fragile X (most common heritable cause of ID!!!)

Question 3

Imaging for CT Chest DiGeorge

Answer 3

absent thymic shadow

Question 4

diagnostic test for phenylketonuria?

Answer 4

Plasma amino acids, demonstrating an accumulation of phenylalanine.

Question 5

head banging, hand-wrist biting, pulling at one’s nails (onyichotillomania), nose picking, inserting objects into orifices, self hugging

Answer 5

Smith-Magenis syndrome (Microdeletions or mutations of the retinoic acid-induced 1 gene, on chromosome 17p11.2, is the underlying genetic etiology.)

Question 6

define “rapid cycling”

Answer 6

4 or more mood episodes of different polarity within 12 month period (i.e. 4 hypomanic episodes in person with MDD)

Question 7

Which allele does the United States Food and Drug Administration recommend testing for to mitigate the risk of Stevens-Johnson syndrome when prescribing carbamazepine to patients of Asian heritage?

Answer 7

HLA B1502

Question 8

shagreen patch, multiple renal hamartomas, subependymal nodules, and cardiac rhabdomyoma

Answer 8

tuberous sclerosis

Question 9

What is the inheritance pattern of neurofibromatosis

Answer 9

autosomal dominant, either sporadic or inherited

Question 10

22q11 deletion

Answer 10

digeorge aka velocardiofacial syndrome

Question 11

4p minus

Answer 11

Wolf Hirschorn

Question 12

5p minus deletion

Answer 12

cri du chat

Question 13

7q11.23 deletion

Answer 13

William’s syndrome (ELASTIN!!!!)

Question 14

15q11-13

Answer 14

maternal: angelman
paternal: Prader Willi

Question 15

almond-shaped eyes, small hands and feet, and scoliosis

Answer 15

Prader Willi (paternal deletion)

Question 16

risk as a neonate for prader willi?

Answer 16

neonatal hypotonia

Question 17

starting dose atmoxetine

Answer 17

25 mg daily then inc to 60 mg

Question 18

etiolopgy enuresis

Answer 18

delayed bladder maturity

Question 19

first line treatment nocturnal enuresis

Answer 19

BEHAVIORAL - bell method

then pharmacologic if ineffective (DESMOPRESSIN 1st line), imiprimaine as last resort

Question 20

how to treat emotional detachment in paranoid personality disorder?

Answer 20

atypicals

Question 21

therapy for stimulant use disorder

Answer 21

contigency management or CBT

Question 22

What temperament trait is classically associated with an increased risk for developing major depressive disorder?

Answer 22

neuroticism

Question 23

FDA approved uses for Fluoxetine

Answer 23

MDD, OCD, bulimia, panic, bipolar dep (w/ olanzapine)

Question 24

Memantine mechanism and why effective in Alzheimer’s?

Answer 24

NMDA receptor antagonist

reduces excitotoxicity caused by overstimulation of glutamate receptors decreaseing neuron cell death

Question 25

difference between asexul and hypoactive sexual desire?

Answer 25

asexual egosyntoci doesn't cause distress | hypoactive sexual causes distress

Question 26

mechanism clonidine

Answer 26

alpha 2 AGONIST

Question 27

3 types of tic disorders?

Answer 27

tourette's persistent (chronic) motor or vocal tic disorder provisional tic disorder

Question 28

dsm tourette's

Answer 28

multiple motor + at least one vocal tick, for greater than 1 year

Question 29

tourette's vs provisional tic disorder?

Answer 29

provisional less than one year

Question 30

how to manage tic disorder in youth?

Answer 30

psychoeducation or habit reversal training for distressing tics for treatment resistance use ALPHA 2 AGONISTS (clonidine/guanfacine) or aripiprazole (FDA approved for tourette's 6-18)

Question 31

seasonal pattern of depression?

Answer 31

CONSISTENT seasonal pattern: regular temporal relationship between onset of MDD episodes during one part of the year and FULL REMISSION at the other time of year (can also happen in summer)

Question 32

brain areas with most cannabinoid receptors

Answer 32

HIPPOCAMPUS basal ganglia cerebellum

Question 33

absence seizure on EEG

Answer 33

2.5 to 5 Hz spike wave activity (can induce seizure by hypoventilation)

Question 34

diagnostic features of Lewy body dementia? (core and supportive)

Answer 34

CORE: fluctuating cognition, well formed/detailed VH, parkinsonism SUPPORTIVE: sensitivity to antipsychotics, REM sleep behavior disorder

Question 35

inheritance duchenne muscular dystrophy?

Answer 35

x linked recessive

Question 36

Where does DMD start?

Answer 36

lower extremities

Question 37

mechanism for duchenne muscular dystrophy?

Answer 37

defect gene on x-linked chromosome leads to decreased dystrophin production = elevated CK at birth = muscular dystrophy causing weakness = eventually causes dilated cardiomyopatyh

Question 38

lesion to what area causes Kluver Bucy syndrome?

Answer 38

damge to BILATERAL TEMPORAL LOBES (median); can be from trauma, HSV encephalitis, alzheimer's, temporal lobectomy

Question 39

what area affected by thiamine deficiency?

Answer 39

mammilary bodies, leads to Wernicke Korsakoff syndrome

Question 40

Which variant of partial epilepsy is most routinely associated with memory and affective abnormalities?

Answer 40

temporal lobe epilepsy

Question 41

long term sequelae inhalant

Answer 41

ataxia, impaired cognition, dementia, polyneuropathy

Question 42

risk factors tardive dyskinesia

Answer 42

longer exposure, MULTI INFARCT DEMENTIA, older age

Question 43

location of CB1 and CB2 (cannabinoid receptors)

Answer 43

CB1 - CNS, causes main psychoactive effects on body | CB2 - peripheral, in immune system i.e. WBCs