Misc

Question 1

What enzyme is deficient in Neimann-Pick disease?

Answer 1

sphingomyelinase

Question 2

Enzyme deficiency in Tay-Sachs?

What accumulates?

Answer 2

hexosaminidase

Gm2 ganglioside accumulates

Question 3

Enzyme deficiency in Gaucher’s disease?

Answer 3

glucocerebrosidase

Question 4

What enzyme converts phospholipids to arachidonic acid?

What drugs inhibit it?

Answer 4

Phospholipase A2

corticosteroids

Question 5

What factors mediate migration of neutrophils?

Answer 5

bacterial products and CILK
C5a
IL-8
LT-B4
Kallikrein

Question 6

results of quad screen in Down Syndrome

Answer 6

down AFP and estriol

up β-hCG and inhibin A

Question 7

people w/ Down Syndrome are at increased risk for what hematological disorder?
what cardiac anomaly?

Answer 7

ALL
ASD (endocardial cushion defect), sometimes VSD

Question 8

Typical findings in Neimann-Pick disease:

• clinical exam
• histology
• prognosis and time course

Answer 8

loss of previously attained motor abilities
hepatosplenomegaly
cherry red macular spot
"foamy histiocytes" on tissue histology
hypotonia and blindness by age 1.
death by age 3.

Question 9

What is Wernicke encephalopathy?
How is it resolved?
What parts of the brain are implicated?

Answer 9

Results from administration of glucose to thiamine deficient (usu. alcoholic) pts w/o prior admin. of thiamine. Causes acute confusion, ophthalmoplegia, and ataxia. Tx: give thiamine.
- Medial dorsal nucleus of thalamus and mamillary bodies.