M2M Unit 2 Flashcards Preview

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Flashcards in M2M Unit 2 Deck (116)
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1

CYP3A

Substrates: Cyclosporine mechanism: genetically less important than other drug metabolism genes b/c activity continuous and unimodal Inhibitors: Ketoconazole, grapefruit juice inducers: Rifampin

2

CYP2D6

Substrates: Tricyclic antidepressants and codeine (activates codeine->morphine) Inhibitors: Quinidine, Fluoxetine, Paroxetine Whites poor metabolizers

3

CYP2C9

Substrates: Warfarin use VKORC1 as marker to approx. target dose underdose-> clot; overdose-> bleed 20% Whites need lower dose--> poor metabolizers

4

NAT

Drugs: Isoniazid for TB mechanism: rate of acetylation determined by genetic polymorphism comments: Important in Phase II pathway -Modifies risk of cancers though differences in acetylation of carcinogens

5

TMPT

Drugs: 6-mercaptopurine, 6-thioguanine 5% of kids with ALL (leukemia) poor metabolizers (absent activity)--> will KILL child (immunosuppression) if don't test for it (functional assay) Solution: give lower dose

6

G6PD

Substrates: Sulfonamide antibiotics, dapsone Mechanism: X-linked enzyme -Deficient individuals susceptible to hemolytic anemia after sulfa or dapsone drug exposures

7

VKORC1

Drug: Warfarin Mechanism: reduces vit. K; single nucleotide polymorphism --Warfarin is a 'blood thinner" one of the most commonly prescribed meds given to >20,000,000 pts. in the US/year

8

Trisomy 21

Down syndrome

9

45, X 

Short, webbed neck, borad chest, infertility

 

Turner syndrome 

10

tall, hypogonadism, sterility, lang. impairment, gynecomastia

Klinefelter syndrome 

11

47, XXY

Klinefelter syndrome (tall, hypogonadism, sterility, lang. impairment, gynecomastia)

12

47, XXY look like normal males increased behavioral and educational problems

XXY syndrome

13

characteristic facies, CNS ab., Facial cleft, polydactyly, Congenital heart disease, etc.

Patau Syndrome 

14

47, XX, +13

Patau Syndrome (characteristic facies, CNS ab., Facial cleft, polydactyly, Congenital heart disease, etc.)

15

growth retardation, Hypertonicity, Seizures, ID severe

Edwards syndrome 

16

47, XX, +18

Edwards syndrome (growth retardation, Hypertonicity, Seizures, ID severe)

17

46, XX, t(9;22) (q34;q11.2)

Cronic Myelogenous leukemia (reciprocal translocation) anemia 

18

46, XX, der(14;21)(q10;q10), +21

Down syndrome (robertsonian translocation)

19

46, XY, del(5)(p15)

cri-du-chat syndrome (deletion)

20

46, XX, i(21)(21q21q)

Down syndrome (Isochromosomes)

21

weakness in legs, lower extremity muscle atrophy, foot deformity, some loss of sensation in feet

Charcot-marie-tooth disease duplication of gene for peripheral myelin protein-22 

22

46, XX, dup(17p11.2)

Charcot-marie-tooth disease duplication of gene for peripheral myelin protein-22 (contiguous gene syndromes/ "genetic" disorders)

23

46, XX, del(17p11.2)

Hereditary neuropathy with liability to pressure palsies -deletion of the gene encoding peripheral myelin protein-22 (contiguous gene syndromes/"genetic" disorders)

24

25yo with foot drop, loss of sensation in legs for days to months. 

Hereditary neuropathy with liability to pressure palsies -deletion of the gene encoding peripheral myelin protein-22 (AD)

25

Cleft palate, septal defects 

Velocardiofacial syndrome 

26

del 22q11

Velocardiofacial syndrome (cleft palate, septal defects)

27

del 22q11 

neural crest, cranchial pouches, great vessels, outflow tract defects in heart

DiGeorge Syndrome 

28

Initially not eating well on own now 3 yo is obese and will eat all the time. behavioral issues and a little slow to learn in school

Prader-Willi

29

del(15)(q11-13) paternal

Prader-Willi

30

developmentally delayed, tremulous movement of limbs, language impairment, hand flapping, happy demeanor, seizures  when <3yo, misaligned eyes (strabismus)

Angelman syndrome