biochem

Question 1

4 trinucleotide repeat expansion disorders

Answer 1

1. huntington - CAG 2.Fragile X = CGG, 3. friedriech’s ataxia = GAA, 4. myotonic dystrophy- CTG. Mnemonic = X-Gfriend First Aid Helped Ace My Test.

Question 2

name 11

x-linked disorders

X-linked disorders Fabry’s Tale: Duke the muscular Hunter Brutally Lysed the Albino Gopher w/out Being Aware It was a Fragile Hemophiliac.

Answer 2

Duke = duchennes(dystrophin deleted) and becker’s musc dystrophy, Hunter= hunter’s syndrome

Brutally - Bruton’s Agammaglobulinemia,

Lysed = Lesh-Nyhan

Albino = ocular albinism

GOpher - G6PD def +ornithine transcarbamyolase, Frgaile - Fragile X,

Hemophiliac- Hemophilia A+B

Question 3

2 major causes of genetic mental retardation

Answer 3

1. Down’s
2. X-linked Fragile X syndrome (affecting FMR1 gene hypermethylation)

Question 4

macroorchidism

large jaw

large everted ears

autism

MVP

Answer 4

frgaile X syndrome

Question 5

3 autosomal trisomies

Answer 5

downs - trisomy 21: decreased estriol and AFP, but increased B-hCG and inhibin A. US= increased nuchal. ostium primum ASD

Edward’s = trisomy 18 (1:8000 and elections at 18); quad screen: decreased AFP, B-hCG, estriol, but NORMAL inhibin

Patau =rare trisomy 13 w/cleft palate and single midline eye(holoprosencephaly) quad: decreaed B-hCG, decrased PAPPA, and increased nuchal translucency

Question 6

chromosomes involved in robertsonain translocation

Answer 6

13,14,15,21,22

Question 7

3 microdeletion syndromes

Answer 7

1. cri-du-chat - short arm of chr. 5 –>cry of cat
2. williams syndrome ===> long arm of chr. 7 (deleted region = elastin gene) –>elfin facies
3. 22q11 syndromes

Question 8

14. Autosomal dominant diseases

MOCHA STAND

Answer 8

MOCHA STAND 1. M- Marfan’s/MEN 2. O-osteogeneis imperfecta + Osler Weber Rendu(hereditary hemorrhaging telangiectasia) 3. C-Cholesterolemia-hyper type IIA 4. Huntington + vHL (chromosome 3, HIF factor association) 5.A- Adult polycystic Kidney and Achroncdroplasia 6.S-spherocytosis 7.T-tuberous sclerosis 8. A-adenosis polyposis 9. N-NF1+2/Noonan syndrome 9. Dystrophic myotonia.

Question 9

HELPSS for amOxicillin and ampicilln

+ ADE

Answer 9

HELPSS = Haemophilus influenza, E. Coli, Listeria monocytogenes, Proteus mirabiis, Salmonella shigella, enterococci w/ADE of ampicillin rash + pseudomembrane colitis give w/clauvalaunic acid

Question 10

vancomycin ADE

Answer 10

vancomycin NOT vanco - nephrotoxicity, Ototoxicity, thrombophlebitis + redman syndrome

Question 11

aminoglycosides indications and tx

Mean GNATS caNNOT kill anaerobes

Answer 11

aminoglycosides - Mean GNATS caNNOT kill anaerobes aminoglycosieds- bactericidal and inhibit formation initiation complex (30S ribosome) Drugs: G-gentamycin N-neomycin(bowel surgery) A-amikacin T-tobramycin S-streptomycin ADE: N-nephro tox esp when used w/cephalosporins N-neuromuscular blockated O-otoxocitity T-teratogen

Question 12

bugs not covered by cephalosporins

LAME

Answer 12

bugs not covered by cephalosporins: LAME - listeria, Atypicals (chylamydia +mycoplasma), MRSA, Enterococci (note: ceftriaxone - 3rd gen covrers MRSA)

Question 13

3 drugs for leprosy

Answer 13

dapsone + rifampin

add clofazamine for lepromatous form

Question 14

VDRL for false positive in syphyllis

Answer 14

V-viruses (mono hepatitis)

Drugs

R-rheumatic fever

L-lupus and lepros

Question 15

acanthocytes

Answer 15

liver disease

abetalipoproteinemia