WEEK1 Flashcards
Triad of DiGeorge syndrome
cardiac defects, hypoplastic thymus, hypocalcemia
long face, big ears, macroorchidism
Fragile X (most common heritable cause of ID!!!)
Imaging for CT Chest DiGeorge
absent thymic shadow
diagnostic test for phenylketonuria?
Plasma amino acids, demonstrating an accumulation of phenylalanine.
head banging, hand-wrist biting, pulling at one’s nails (onyichotillomania), nose picking, inserting objects into orifices, self hugging
Smith-Magenis syndrome (Microdeletions or mutations of the retinoic acid-induced 1 gene, on chromosome 17p11.2, is the underlying genetic etiology.)
define “rapid cycling”
4 or more mood episodes of different polarity within 12 month period (i.e. 4 hypomanic episodes in person with MDD)
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?
HLA B1502
shagreen patch, multiple renal hamartomas, subependymal nodules, and cardiac rhabdomyoma
tuberous sclerosis
What is the inheritance pattern of neurofibromatosis
autosomal dominant, either sporadic or inherited
22q11 deletion
digeorge aka velocardiofacial syndrome
4p minus
Wolf Hirschorn
5p minus deletion
cri du chat
7q11.23 deletion
William’s syndrome (ELASTIN!!!!)
15q11-13
maternal: angelman
paternal: Prader Willi
almond-shaped eyes, small hands and feet, and scoliosis
Prader Willi (paternal deletion)
risk as a neonate for prader willi?
neonatal hypotonia
starting dose atmoxetine
25 mg daily then inc to 60 mg
etiolopgy enuresis
delayed bladder maturity
first line treatment nocturnal enuresis
BEHAVIORAL - bell method
then pharmacologic if ineffective (DESMOPRESSIN 1st line), imiprimaine as last resort
how to treat emotional detachment in paranoid personality disorder?
atypicals
therapy for stimulant use disorder
contigency management or CBT
What temperament trait is classically associated with an increased risk for developing major depressive disorder?
neuroticism
FDA approved uses for Fluoxetine
MDD, OCD, bulimia, panic, bipolar dep (w/ olanzapine)
Memantine mechanism and why effective in Alzheimer’s?
NMDA receptor antagonist
reduces excitotoxicity caused by overstimulation of glutamate receptors decreaseing neuron cell death
difference between asexul and hypoactive sexual desire?
asexual egosyntoci doesn’t cause distress
hypoactive sexual causes distress
mechanism clonidine
alpha 2 AGONIST
3 types of tic disorders?
tourette’s
persistent (chronic) motor or vocal tic disorder
provisional tic disorder
dsm tourette’s
multiple motor + at least one vocal tick, for greater than 1 year
tourette’s vs provisional tic disorder?
provisional less than one year
how to manage tic disorder in youth?
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)
seasonal pattern of depression?
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)
brain areas with most cannabinoid receptors
HIPPOCAMPUS
basal ganglia
cerebellum
absence seizure on EEG
2.5 to 5 Hz spike wave activity (can induce seizure by hypoventilation)
diagnostic features of Lewy body dementia? (core and supportive)
CORE:
fluctuating cognition, well formed/detailed VH, parkinsonism
SUPPORTIVE:
sensitivity to antipsychotics, REM sleep behavior disorder
inheritance duchenne muscular dystrophy?
x linked recessive
Where does DMD start?
lower extremities
mechanism for duchenne muscular dystrophy?
defect gene on x-linked chromosome leads to decreased dystrophin production = elevated CK at birth = muscular dystrophy causing weakness = eventually causes dilated cardiomyopatyh
lesion to what area causes Kluver Bucy syndrome?
damge to BILATERAL TEMPORAL LOBES (median); can be from trauma, HSV encephalitis, alzheimer’s, temporal lobectomy
what area affected by thiamine deficiency?
mammilary bodies, leads to Wernicke Korsakoff syndrome
Which variant of partial epilepsy is most routinely associated with memory and affective abnormalities?
temporal lobe epilepsy
long term sequelae inhalant
ataxia, impaired cognition, dementia, polyneuropathy
risk factors tardive dyskinesia
longer exposure, MULTI INFARCT DEMENTIA, older age
location of CB1 and CB2 (cannabinoid receptors)
CB1 - CNS, causes main psychoactive effects on body
CB2 - peripheral, in immune system i.e. WBCs
