9/26/12

Question 1

Chronic lymphedema predisposes to what tumor?

Answer 1

angiosarcoma

Question 2

Which hepatits virus causes hepatocytes to take on a finely granular, eosinophilic “ground glass” appearance? What are the granules?

Answer 2

HBV; HBsAg

Question 3

Which hepatitis virus is characterized by lymphoid aggregates in the portal tracts and macrovesicular steatosis?

Answer 3

HCV

Question 4

5-HIAA is a breakdown product of _______ used to screen for _______.

Answer 4

5-HT; carcinoid tumors

Question 5

Tryptase is released by what cells?

Answer 5

Mast cells

Question 6

Hemophilia B is an XR defect of Factor __.

Answer 6

IX

Question 7

Bilateral acoustic neuromas.

Answer 7

NF-2

Question 8

Lisch nodules and cafe-au-alit spots.

Answer 8

NF-1

Question 9

Cerebellar hemangioblastomas, retinal hemangiomas, and liver cysts.

Answer 9

Von Hippel-Lindau disease

Question 10

Mode of inheritance of Von Hippel-Lindau disease? Associated kidney condition?

Answer 10

AD; renal cell carcinoma

Question 11

Facial port-wine stain and leptomeningeal angioma.

Answer 11

Sturge-Weber syndrome

Question 12

What is the inheritance pattern of Sturge-Weber syndrome?

Answer 12

Trick question! Sturge-Weber is the result of an embryological malformation – not heritable!

Question 13

Recurrent epistaxis or GI bleeding due to multiple telangiectasias of the skin and mucosa.

Answer 13

hereditary hemorrhagic telangiectasia (aka Osler-Weber-Rendu syndrome)

Question 14

What is the inheritance pattern of tuberous sclerosis?

Answer 14

AD

Question 15

Please label the following structures.

Answer 15

A. II

B. optic chiasm

C. optic tract

D. III

E. IV

F. V

G. VI

H. VII

I. VIII

J. IX

K. XII

L. X

M. XI

Question 16

Serologically, what differentiates a person who was vaccinated against HBV from one who had the infection, but recovered?

Answer 16

absence of anti-HBcAg IgG

Question 17

What HBV serological marker of infection is present in the “window period” between disappearance of HBsAg and appearance of anti-HBsAg?

Answer 17

anti-HBcAg IgM

Question 18

What does HBeAg really indicate? What does its presence for more than 3 mos indicate?

Answer 18

active viral replication and high infectivity; probable chronic infection

Question 19

How is HBV carrier state defined (serologically)?

Answer 19

HBsAg in serum for >6 mos

Question 20

Benign condition w/ elevated conjugated bilirubin levels.

Answer 20

Dubin-Johnson (or Rotor’s) syndrome

Question 21

Benign condition w/ elevated unconjugated bilirubin levels.

Answer 21

Gilbert ‘s syndrome

Question 22

What enzyme is totally absent in Crigler-Najjar syndrome and may be deficient in Gilbert’s syndrome?

Answer 22

UDP-glucuronyltransferase

Question 23

Name the left heart pathology.

Answer 23

aortic stenosis

Question 24

Name the left heart pathology.

Answer 24

mitral insufficiency

Question 25

Name the left heart pathology.

Answer 25

aotic insufficiency

Question 26

Name the left heart pathology.

Answer 26

mitral stenosis