Tuesday June 30

Question 1

what gene is mutated in autosomal recessive polycistic kidney disease?

Answer 1

PKHD1 which codes for fibrocystin

Question 2

when is autosomal recessive polycistic kidney disease detected?

Answer 2

often in utero, with bilateral enlarged echogenic kidneys on ultrasound

Question 3

what are the findings seen in potter sequence?

Answer 3

flattened facies, limb deformities, pulmonary hypoplasia

Question 4

which leukotrienes are commonly part of the asthma pathology?

Answer 4

C4, D4 and E4

Question 5

name 2 leukotriene receptor antagonists

Answer 5

Montelukast, zafirlukast

Question 6

Zileuton MOA

Answer 6

Inhibits 5-lipooxygenase enzyme, thus decreasing luekotriene production

Question 7

what are P bodies?

Answer 7

P bodies are found in the cytoplasm and regulate mRNA expression/turnover -they may degrade mRNA or store it for later

Question 8

what is bipolar disorder I?

Answer 8

Manic episodes

Depressive episodes are common but no required for diagnosis

Question 9

what is bipolar disorder II?

Answer 9

hypomanic episodes with at least one major depressive episode

Question 10

what is cyclothymic disorder?

Answer 10

> 2 years of fluctuating, mild hypoman and depressive symptoms that do not meet criteria for manic or major depressive episodes

Question 11

how does the body respond to the decrease pO2 at higher altitudes ? (2 changes)

Answer 11

1. Peripheral chemoreceptors fire to increase ventilation

2. Erythrocytes synthesize increased 2,3,BPG, shifting the O2 dissociation curve to the right

Question 12

1 - Beta =

Answer 12

statistical power

Question 13

what does alpha represent?

Answer 13

the chance of making a type I error

Question 14

what is a type I error?

Answer 14

rejecting the null hypothesis when the null hypothesis is true

Question 15

what is a type II error?

Answer 15

failure to reject the null hypothesis when the null hypothesis is false

Question 16

What is the probability of making a type II error?

Answer 16

Beta

Question 17

which cell plays an important role in lung abscess formation?

Answer 17

neutrophils

Question 18

how do neutrophils form a lung abcess?

Answer 18

recruited and activated neutrophils release cytotoxic granules (from lysosomes) that contain digestive enzymes to kill the bacteria, but also cause liquefactive necrosis of the tissue

Question 19

what is given to a women who is Rh - with an Rh + baby?

Answer 19

IgG anti-D antibodies in the post-partum period, as it will bind any fetal Rh + RBCs that entered the mothers blood stream and prevent immune delevopment

Question 20

which type of bacteria can survive past the temperature of 100 C?

Answer 20

spore formers (clostridium, bacillis)

Question 21

Which cofactor is involved in coverting oxaloacetate to asparate (and simulataneously, glutamate to alpha-ketoglutarate) ?

Answer 21

B6 -pyridoxine

Question 22

What is nitroblue tetrazolium testing?

Answer 22

A test for chronic granulomatous disease (deficient NADPH oxidase). When exposed to nitroblue tetrazolium, neutrophils should turn blue. If they fail to turn blue, this is a characteristic of the disease

Question 23

People with chronic granulomatos disease are at increased risk of what?

Answer 23

infections caused by catalase-positive organisms