PEDS

Question 1

What is the problem with spinal muscluar atrophy type 1?
How to diagnose?
what sets it apart from other differentials?

Answer 1

progressive apoptosis of motor neurons
genetic test
no tone, but extraocular movements are good

Question 2

what is the most common cause of primary hypogonadism in males?
what mental health condition is associated with this disease?

Answer 2

Klinefelter
almost like an autism/adhd deal
impulsive, poor attention

Question 3

5 signs of congenital rubella infection?

Answer 3

blueberry muffin rash, sensoryineural hearing loss, liver dysfuction, cataracts, and congential heart defects.

Question 4

classic triad of congenital toxo is?

Answer 4

hydrocephalus, chorioretinits, and intracranial calcificaitons usually basal ganglia

Question 5

newborn baby vomits blood. What is the best test to do first?

Answer 5

APT test is non invasive and differentiates between mom and baby blood

Question 6

3 signs of trisomy 18 to remember?

Answer 6

rocker bottom feet/clenched fists, small head and congenital hard defects.

Question 7

what are the two initial tests for syphillis?

what is the confirming test?

Answer 7

VDRL and rapid plasma regain

dark field microscopy or antibody absorption

Question 8

Premature infants lung compliance, residual capacity and what shunting?

Answer 8

low
low
right to left

Question 9

3 things happening to donor twin and 4 things happening to recipient twin in twin to twin syndrome?

Answer 9

hypovolemia, anemia and low amniotic fluid

hypervolemia, lots of amniotic fluid, CHF and jaundice