Test B

Question 1

what are 2 findings in peutz-jeghers syndrome

Answer 1

pigmented mucocutaneous macules and multiple hamartomatous polyps in the GI tract

Question 2

what 3 neoplasms are associated with lynch syndrome? and what is the mutation?

Answer 2

Lynch syndrome is due to a mutation in the mismatch repair gene. It’s associated with colorectal cancer, endometrial cancer, and ovarian cancerq

Question 3

what is a contraindication to metoclopramide use

Answer 3

parkinsons disease due to its ability to exacerbate or cause de novo parkinsonian symptoms (it antagonizes the dopamine receptors)

Question 4

what are the clinical features of alkaptonuria

Answer 4

homogentisic aciduria (urine turns black when exposed to air), ochronosis (blue black pigment deposited in eyes, ears, and nose), ochronotic osteoarthropathy (pigment deposition in spine and large joints - can become debilitating)

Question 5

where is the substantia nigra locted

Answer 5

its in the midbrain just deep to the corticobulbar tract in the cerebral peduncle

Question 6

compare and contrast clinical findings in homocystinuria vs marfans

Answer 6

Both: marfanoid features, tall, thin stature, arachnodactly (long fingers and toes), joint and skin hyperlaxity

homocystinuria: intellectual disability, hypercoagulability and ectopic lentis where the lens is displaced downward (its upward in marfans)

Question 7

what is the common gene mutation in homocystinuria

Answer 7

cystathionine-beta-synthase (CBS)

Question 8

what causes antigenic shift? Drift?

Answer 8

shift = reassortment (pandemics)
drift = point mutations

Question 9

what do the a and c waves of the jugular venous pulse tracing correspond to

Answer 9

a = right atrial contraction
c = bulging of the tricuspid valve during right ventricular contraction

Question 10

what affects would a pineal tumor cause on vision

Answer 10

upward gaze palsy, absent pupillary light reflex and impaired convergence (due to mass effect on the dorsal midbrain in the superior colliculus region)

called Parinaud syndrome
(other findings include headache and N/V due to hydrocephalus from blockage of the cerebral aqueduct)

Question 11

what part of the brain is damaged in Kluver-Bucy syndrome

Answer 11

bilateral damage to the temporal lobes particularly the amygdala, most commonly due to HSV encephalitis and trauma