April 25

Question 1

What is the most common cause of mitral stenosis and how does the murmur present?

Answer 1

Rheumatic fever

Low pitched, rumbling, mid-diastolic murmur heard best over the apex when the pt is laying in the left lateral decubitus position

Question 2

AD syndrome featuring numerous hamartomas throughout GI tract, along with hyper pigmented mouth, lips, hands, genitalia. Also associated with increased risk of breast and GI cancers.

Answer 2

Peutz-Jeghers syndrome

Question 3

What causes rectal bleeding in a 2 y/o with normal bowel sounds?

Answer 3

Meckel diverticulum –heterotopic mucosa can ulcerate and cause brisk but painless lower GI bleeding

Question 4

What prokaryotic protein removes RNA primer and replaces it with DNA?

Answer 4

DNA polymerase I

Question 5

Pt with marfanoid habitus and intellectual disability =

Answer 5

homocystinuria –usually results form cystathionine synthase mutation

Thrombosis and atherosclerosis

Question 6

What makes heparin safe to use during pregnancy?

Answer 6

High water solubility –charged molecule

Question 7

Myophosphoylase defects seen in McArdle disease causes failure of what?

Answer 7

Muscle glycogenolysis

Question 8

What is the pathophys of exophthalmos seen with graves disease?

Answer 8

Increased Glycosaminoglycan deposition by orbital fibroblasts–increases osmotic muscle swelling–> muscle inflammation, and adipocyte count–> exophthalmos

Question 9

Where is the location of stems cells for the intestinal mucosa?

Answer 9

Crypts of Lieberkuhn

Question 10

The regenerative nodules seen in liver cirrhosis are composed of proliferating _________.

Answer 10

Hepatocytes

Question 11

Cystic hygromas are most commonly associated with…

Answer 11

Chromosomal aneuploidy

Typically found on head and neck on left side

Question 12

What would cause lactose intolerance in a middle aged women with Fhx of the dz?

Answer 12

Age dependent Decreased gene expression of lactase

Question 13

Head and neck radiation causes increased risk of?

Answer 13

thyroid cancer

Question 14

Fructose-2,6 BP regulates what?

Answer 14

Gluconeogenesis

Question 15

Tetralogy of Fallot is characterized by cyanosis that worsens with…

Answer 15

Feeding
Crying
Exercise

Squat to improve blood flow–older children

Question 16

APO B-48 is produced by…

Answer 16

Intestinal enterocytes

–which is a truncated form of APO B-100 which is produced by hepatocytes

Question 17

What is the role of Probenecid when given with penicillin?

Answer 17

Inhibits secretion of penicillin–enhances efficacy of penicillin

Also used for gout–inhibits reabsorption of uric acid in PCT

Question 18

What is the cause of cough syncope?

Answer 18

Increased intrathoracic pressure causing decreased venous return transiently decreasing CO and cerebral perfusion

Question 19

Increased estrogen levels can be seen in pts with cirrhosis. What symptoms can this cause?

Answer 19

Spider angiomas--Characterized by central feeding arteriole surrounded by multiple smaller vessels that radiate outward
Palmar erythema
Gynecomastia
Testicular atrophy
Dupuyren's contractures
Decreased body hair

Question 20

What is the purpose of using paclitaxel in drug-eluting stents?

Answer 20

Decreases stent thrombosis by inhibiting intimal hyperplasia
–binds microtubules in M phase so that mitotic spindle cannot break down–causing cell cycle to remain in M phase –prevents microtubule breakdown

Question 21

What causes an increase of glucose into skeletal muscle and adipose when insulin is released?

Answer 21

Insulin binds tyrosine kinase receptor on cell membrane–activation of PI3K pathways causes GLUT4 transporters to be translocated to the cell membrane of the skeletal muscle cells and adipocytes–leading to an increase in transport of Glucose into these cells

When insulin is depleted the GLUT4 is re-internalized via clathrin-coated pits

Question 22

Lynch syndrome is caused by mutations in DNA mismatch repair genes that result in

Answer 22

Microsatellite instability

Question 23

What are the 3 primary vesicles for the developing brain?

Answer 23

Forebrain–proencephalon–> Telncephalon/Diencephalon (secondary)

Midbrain–mesencephalon–> Mesencephalon

Hindbrain–Rhombencephalon–> Metencephalon/Myelencephalon

Question 24

What are the structures perforating the diaphragm and at what levels?

Answer 24

I (IVC) ate (8) ten (10) eggs (esophagus) at (aorta) twelve (12)

T8–IVC
T10–esophagus and vagus–CN10
T12–Aorta (red), Thoracic duct (white), azygos vein (blue)

Question 25

How does Von Gierke disease present and what enzyme is deficient?

Answer 25

Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, increased TGs, increased uric acid (Gout), and hepatomegaly

Caused by Glucose-6-phosphatase deficiency–impairs release of free glucose generated through glycogenolysis and gluconeogenesis

Hypoglycemia does NOT improve with administration of fructose or galactose

Question 26

What is vasogenic edema?

Answer 26

Infarction and/or neoplasm within the brain can destroy the endothelial cell tight junctions–> increased vascular leakage into the cerebral interstitium contributes to elevated intracranial pressure

Question 27

What are causes of Nephrogenic DI?

Answer 27

Hereditary--ADH receptor mutaiton
Hypercalcemia
Hypokalemia
Lithium 
Demeclocycline--ADH antagonist