Mixed

Question 1

Pt with X-linked disease that consists of aniokeratomas, cardiac and renal involement and painful neuropathy. Deficiency in?

Answer 1

Fabry. a-galactosidase

Question 2

Hepatosplenomegaly, pancytopenia, bone and joint pain, and macrophages that look like crumpled paper. Deficiency in?

Answer 2

Gaucher’s. B-glucocerbrosidase/

Question 3

Gargoylism, cateracts, hepatosplenomegaly. Accumulation of? Decifiency in?

Answer 3

Hurler. Dermatan and heparan sulfate. a-L-iduronidase

Question 4

Gargoylism, normal eyes, hepatomegaly? Accumulation of? Deficiency in?

Answer 4

Hunter. Dermatan and heparan sulfate. Iduronate sulfatase.

Question 5

Hepatosplenomegaly, cherry red-spot, progressive neurodegeneration.

Foam cells. Deficiency?

Answer 5

Sphinomyelinase

Question 6

Cherry-red spot, neurodegeneration. No hepatosplenomegaly. Deficiency?

Answer 6

Tay-sachs. b-hexosaminidase A/

Question 7

Neurodegeneration andoptic atrophy. Deficiency?

Answer 7

Krabbe. Galactocerebrosidase.

Question 8

Muscle wasting, dementia, ataxia. Deficiency in?

Answer 8

Metachromatic leukodystrophy. Arylsulfatase A

Question 9

Obese pts have increased insulin resistance because?

Answer 9

high FFA

Question 10

Hyperacute rejection. Cause?

Answer 10

Preformed antibodies (like those for blood type) attacking

Question 11

VLCFA broken down where?

Answer 11

Peroxisomes

Question 12

Hyperacute rejection. Cause?

Answer 12

Preformed antibodies (like those for blood type) attacking

Question 13

VLCFA broken down where?

Answer 13

Peroxisomes

Question 14

Stratified columnar found where?

Answer 14

conjunctiva of eye and male urethra

Question 15

Lung stop expanding because?

Answer 15

DECREASE in firing of slowly adapting cells

Question 16

Drug that causes loss of green vision?

Answer 16

Ethanbutol. (for TB)

Question 17

Chemo receptor that responds to O2?

Answer 17

Peripheral

Question 18

Cause of congential diaphragmatic hernia (abdominal contents in thorax?)

Answer 18

failure of pleuroperitoneal folds to form

Question 19

Tx of typical pneumonia?

Answer 19

Ceftriaxone

Question 20

Findings in sarcoidosis?

Answer 20

GRAIN
Gamma-globulinema
RA
ACE
interstitial fibrosis
Non-caseating granulomas

Question 21

Eosinophils are activated by with IL? Released by?

Answer 21

IL-5. Released by Th2

Question 22

Cytokines that increase ESR? Mech?

Answer 22

IL-1, IL-6, TNF-a. Increase acute phase reactants, esp fibrinogen, which increases aggregation and ESR