Cramming 2

Question 1

What intracellular structure do mebendazole and thiabendazole target?

Answer 1

microtubules

Question 2

What anti-fungal targets microtubules?

Answer 2

Griseofulvin

Question 3

What anti-breast cancer drug targets microtubules?

Answer 3

Paclitaxel

Question 4

Remind me again of the primary defect in Chediak-Higashi syndrome? What were the three primary manifestations?

Answer 4

Microtubule dysfunction preventing fusion of phagosome and lysosome. Recurrent pyogenic infections, partial albinism, and peripheral neuropathy.

Question 5

What do peroxisomes degrade?

Answer 5

very long chain fatty acids and aa’s

Question 6

Defects in structural genes are more commonly inherited in what inheritance pattern?

Answer 6

AD

Question 7

Defects in enzymes are more commonly inherited in what inheritance pattern?

Answer 7

AR

Question 8

Achondroplasia results from a defect in _______?

Answer 8

fibroblast growth factor 3 (FGF 3)

Question 9

What is the primary defect in familial hypercholesterolemia?

Answer 9

defective or absent LDL receptor

Question 10

Give me a DD of 3 (non-infective) diseases for MI before age 20.

Answer 10

familial hypercholesterolemia, hypertrophic cardiomyopathy, and homocystinuria

Question 11

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) causes telangiectasias, recurrent epistaxis, skin discoloration, and _______.

Answer 11

Arteriovenous malformations

Question 12

What neurotransmitters are reduced in the brain in Huntington’s disease?

Answer 12

GABA and ACh

Question 13

What chromosome is the CAG repeat of huntington’s located on?

Answer 13

4 (Hunting 4 food)

Question 14

What sort of aortic damage cause dissecting aortic aneurysms in Marfan’s people?

Answer 14

cystic medial necrosis

Question 15

MEN 2A and 2B are associated with the _______ gene.

Answer 15

ret

Question 16

What is von Recklinghausen’s disease?

Answer 16

NF-1! cafe-au-lait spots, neural tumors, Lisch nodules (hamartomas in iris)

Question 17

What are the typical manifestations of NF-2?

Answer 17

bilateral acustic neuromas and juvenile cataracts

Question 18

What type of Abx against Psuedomonas would you give to a cystic fibrosis pt?

Answer 18

fluoroquinolones

Question 19

Inheritance pattern and primary defect in Bruton’s agammaglobulinemia.

Answer 19

X-linked recessive; Bruton’s Tyr kinase -> stunted B-cell differentiation

Question 20

How do you Dx Duchenne’s muscular dystrophy?

Answer 20

Increased CPK and muscle biopsy

Question 21

Genetic abnormality in Cri-du-chat syndrome?

Answer 21

deletion of short arm of chromosome 5 (5p-)

Question 22

What is the genetic abnormality in Williams syndrome?

Answer 22

(7q-)

Question 23

Genetic abnormality and Sx of DiGeorge Syndrome or Velocardiofacial syndrome?

Answer 23

CATCH-22 (22q11 deletion)
Cleft palate
Abnormal facies
Thymic aplasia
Cardiac defects
Hypocalcemia

Question 24

Which branchial pouches are malformed in DiGeorge or velocardiofacial syndrome?

Answer 24

3rd and 4th