5/28/13 b

Question 1

What is the function of dystrophin, the defective protein in Duchenne muscluar dystrophy?

Answer 1

stabilize the plasma membrane of the myocyte

Question 2

Proximal muscle weakness, malaise, muscle pain, fever, irritability, and violaceous rash rash on the upper eyelids in a child?

Answer 2

Juvenile Dermatomyositis

Question 3

Proximal muscle weakness preceded by a prodrome of malaise, muscle pain, fever, and irritability in a child w/o the rash.

Answer 3

Juvenile Polymyositis

Question 4

What disease is characterized by the onset of exercise intolerance in adolescence or early adulthood w/ fatigue, muscle cramps, myalgia, myoglobinuria, muscle swelling, and fixed weakness?

Answer 4

McArdle’s disease (glycogen storage disease type V)

Question 5

What is the enzyme deficiency in McArdle’s disease?

Answer 5

muscle phosphorylase

Question 6

What disease is characterized by weakness/degeneration of certain muscles, joint contractures, and cardiomyopathy?

Answer 6

Emery-Dreyfuss muscular dystrophy

Question 7

What is the best initial test for Dx of Guillain-Barre syndrome?

Answer 7

CSF study

Question 8

What tests should be used to confirm the Dx of Guillain-Barre syndrome?

Answer 8

electrophysiologic studies (electromyography, nerve conduction studies)

Question 9

What psychiatric disorder is characterized by a pervasive pattern of disregard for the rights of others along with: failure to conform to social norms and laws, deceitfullness, irritability and aggressiveness, disregard for the safety of others, irresponsibility, and/or a lack of remorse after mistreating others?

Answer 9

Antisocial personality disorder

Question 10

What disorder is antisocial personality disorder (necessarily) preceded by before the age of 18?

Answer 10

conduct disorder

Question 11

Do erythema nodosum, hilar adenopathy, and arthritis confer a good or bad prognosis upon sarcoidosis?

Answer 11

g00d

Question 12

Do lung consolidation, black race, and extrapulmonary sarcoidosis (e.g. heart block) confer a good or bad prognosis upon sarcoidosis?

Answer 12

bAd

Question 13

What would cause a pt w/ an acute MI to have a murmur of mitral regurgitation?

Answer 13

papillary muscle dysfunction

Question 14

How is Technetium-99m scintigraphy useful in the management of MI?

Answer 14

for Dx when cardiac enzymes can’t be measured (e.g. when pt presents days later or if intraoperative MI)

Question 15

Carcinomas of what 3 organs comprise most bone metastases?

Answer 15

breast, prostate, and lungs

Question 16

What is given to pts in labor before administering an epidural in order to prevent aspiration pneumonitis?

Answer 16

antacid

Question 17

What is the first step in mgmt of a pt in whom gonorrhea infection has been established, but there is a history of adverse reaction to penicillin?

Answer 17

perform penicillin skin test

Question 18

If the penicillin allergy skin test is positive, what may be used to treat gonorrhea if the infection is minor?

Answer 18

macrolides (azithromycin or clarithromycin)

Question 19

How often should pts at hi ris for colon cancer receive a colonoscopy?

Answer 19

every 5 years

Question 20

Li-Fraumeni syndrome is an autosomal dominant condition caused by a germline mutation of _______; pts who have this condition are at increased risk for soft-tissue sarcomas, osteosarcomas, leukemias, brain tumors, adrenocortical malignancies, and breast cancer.

Answer 20

p53