Rx_2.3

Question 1

Characteristics of vWD

Answer 1

• autosomal dominant
• deficiency/dysfxn of vWF
• vWF = platelet adhesion + carrier molecule for factor VIII ==>
  
  • reduced ristocetin-induced platelet aggregation
  • prolonged partial thromboplastin

Question 2

Trinucleotide repeat diseases

Answer 2

• CAG @ chromosome 4 = Huntington’s
• GAA @ chromosome 9 = Friedrich’s ataxia
• CTG @ chromosome 19 = Myotonic dystrophy
• CGG on X chromosome = Fragile X

Question 3

Drug used to prevent NSAID-induced gastric ulcers + MOA

Answer 3

• misoprostol = prostaglandin E1 analog
• NSAIDs ==: inhibition of prostaglandins ==> increased acid secretion/reduced bicarb/reduced mucous barrier ==> ulcer
• misoprostol acts as a prostaglandin and antagonizes these effects and prevents ulcers

Question 4

Misoprostol: uses + SEs

Answer 4

• uses
  
  • prevention of NSAID-induced ulcers
  • maintain PDA
  • medical termination of pregnancy (w/mifepristone)
• SEs
  
  • induction of labor
  • uterine cramps

Question 5

Genetic problem/mutation ==> cystic fibrosis

Answer 5

• deletion of phenylalanine on chromosome 7

Question 6

Genetic problem/mutation ==> duchenne’s muscular dystrophy

Answer 6

• frame-shift mutation = nucleotide insertion or deletion ==> altered reading frame
• X chromosome

Question 7

Genetic problem/mutation ==> sickle cell

Answer 7

• missense mutation: glutamic acid substitued for valine

Question 8

FAP results from ….?

Answer 8

• mutation in APC gene on chromosome 5

Question 9

Abnormality on chromosome 11 = ?

Answer 9

wilms’ tumor

Question 10

Abnormality on chromosome 13 = ?

Answer 10

• retinoblastoma
• osteosarcoma

Question 11

Abnormality on chromosome 22 = ?

Answer 11

• neurofibromatosis type 2

Question 12

Peaked T waves on ECG = ?

Answer 12

hyperkalemia

Question 13

Common cause of hyperkalemia in pt/ w/HTN

Answer 13

pottasium-sparing diuretic, e.g. Spironolactone

Question 14

Cimetidine: MOA, SE

Answer 14

• MOA = H₂ antagonist
  
  • used to tx ulcers
• SE
  
  • headache, confusion
  • thrombocytopenia
  • inhibition of cytochrome P-450 system
  • anti-androgen effects
    
    • increased prolactin ==>
    • gynecomastia
    • impotence
    • decreased libido

Question 15

Characteristics of I-cell disease

Answer 15

• failure to phorphorylate mannose residues ==> mannose-6-phosphate ==>
  
  • exocytosis of enzymes that should be targeted to the lysosome
• ==> intracellular inclusion that are not properly degraded by lysosomal enzymes

Question 16

Diabetic meds that ==> hypoglycemia

Answer 16

• any med that increases/promotes insulin secretion can lead to hypoglycemia
• e.g.
  
  • insulin = IM injection
  • sulfonylurea drugs
    
    • glyburide = oral

Question 17

Acarbose: MOA, use, SE

Answer 17

• MOA: inhibits intestinal brush-border alpha-glucosidase (prevents release of glucose from starches/disaccharides)
• use: T2D antihyperglycemic drug
• SE: GI disurbance

Question 18

Exenatide: MOA, use, SE

Answer 18

• MOA: glucagon-like peptide 1 (GLP-1) agonist
  
  • delays gastric emptying and enhance’s glucose-dependent insulin secretion
  • subq administration
• use: T2D
• SE
  
  • not associated w/hypoglycemia when used alone
  • GI disturbance
  • increased risk of pancreatitis

Question 19

Metformin: MOA, use, SE

Answer 19

• MOA: not exactly known, may decrease gluconeogenesis and increase insulin sensitivity
• use: FIRST LINE in T2D
• SE
  
  • few adverse effects
  • contraindicated in renal failure (==> lactic acidosis)

Question 20

Liver polypeptides enter circulation @ …?

Answer 20

hepatic vein

Question 21

Sore midline neck mass in child ==> dx?

Answer 21

• infected thyroglossal duct cyst
• result of peristent pathway between site of thyroid embryo development (primitive pharynx) and eventual location in neck
• duct normally involutes, but may remain and become infected

Question 22

Polymyxins: MOA, use, SE

Answer 22

• MOA: destroy gram-negative bacteria by binding cell membrane phospholipids and acting as a detergent
• Use: severe gram-negative infections resistant to less toxic antimicrobials
• SE
  
  • numbness @ extremities
  • nephrotoxocity
  • dizziness
  • drowsiness, confusion
  • nystagmus, blurred vision