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Flashcards in MSK Deck (42):
1

Name this disease:

baby presents with agenesis of the sacrum and lumbar spine, dorsiflexed contractures of the few, and urinary incontinence. The mother of this baby had poorly controlled maternal diabetes

Caudal Regression Syndrome

2

iron deficiency anemia can do what to baby in utero

restrict fetal growth

3

treatment for Cretinism

levothyroxine (by 2 weeks of age)

4

why does cretinism present with mental retardation

because T4 is deficient and it is needed for normal brain development

5

Name disease:
- light pigment
-mousy odor
-developmental delay

Phenoketonuria

6

sensitivity

probability of a diseased person testing positive

7

specificity

the probability of a healthy person testing negative

8

positive predictive value

the probability that disease is present given a positive result

9

negative predictive value

the probability that disease is absent given a negative result

10

how do osteocytes help to regulate bone remodeling

because they can sense stress and they send signals to the osteoblasts to modulate them

11

what are known to be essential to spliceosomes and remove introns from preMRNA to form mature MRNA

snRNP (small ribonucleoproteins) SLE!

12

patients with myasthenia graves are sometimes found to have what else?

thymoma

13

thymoma shares embryological origin with?

inferior parathyroid gland

14

what pharyngeal pouch does the thymus develop from

3rd

15

what is alkaptonuria caused by

a deficiency of Homogentisic Acid Dioxygenase

16

accumulate homogentisic acid causes what?

pigment deposits in connective tissue in the body

17

alkaptonuria presents with what color dots in sclera and ear cartilage

blue-black dots

18

why does the urine of alkaptonuria patients turn black

because of the oxidation of homogentisic acid touching the air

19

marfan syndrome is a deficiency in what

fibrillar-1

20

where is fibrillar-1 found

- zonular fibers of the lens
- periosteum
- aortic media

21

calcium released form the sarcoplasmic reticulum binds to what to expose myosin to actin, causing contractoin

troponin c

22

what pulls tropomyosin out of the way so that actin and myosin can bind

troponin

23

when calcium is released from the sarcoplasmic reticulum because of depolarization, what receptor does it travel through

ryanodine receptor

24

what si responsible for initiating the extrinsic pathway of apoptosis through the cytoplasmic component called death doman

FAS

25

Fas is expressed on what cell type

T-lymphocytes

26

when Fas or FASl is mutated, what happens to t lymphocytes

auto reactive t cells excessively accumulate and autoimmune disease forms

27

reactive arthritis (reiter's) affects what people

HLA-B27

28

reactive arthritis is commonly seen after what infections

campylobacter
shigella
salmonella
yersinea
chlaymida
bartonella

29

why is reactive arhtiris called "reactive"?

because it means that it is not infectious arhtirits, when you aspirate the joint, no bacteria will be seen

30

tamoxifen and raloxifine are given for what situation

to decreased risk of breast cancer in high risk patients

31

raloxifine is specifically used for?

postmenopausal osteoperosis

32

tamoxifen is specifically used for?

adjuvant treatment for breast cancer

33

what are the UDE of tamoxifen

endometrial hyperplasia and cancer (this is why it isn't used for postmenopausal osteoporosis)

34

what are the two estrogen receptor modulators

tamoxifen and raloxifeine

35

where is the antagonistic activity of raloxifine? where is the agonist?

antagonist- breast ( decreases breast cancer)
agonist- bone ( decreases bone remodeling)

36

what is the drug that is a GnRH analogue that is an estrogen against in a pulsatile fashion, but estrogen antagonist in a continuous fashion?

Leuprolide

37

what two things inactivate EF-2 by ribosylation, therefore inhibiting protein synthesis in host cell

C. Dificle, P. Aeuriginosa

38

what is the main toxin in clostridium Perf.

Lecithinase (phospholipase C or alpha toxin)

39

what does lecithinase do

catalyzes the splitting of phospholipids

40

antihistone antibodies are seen in?

Drug induced lupus

41

three drugs that cause drug induced lupus

hydralazine
procainamide
isoniazid (for TB)
minocylcine
etanercept (TNF-a inhibitor)

42

patients with slow acetylator are predisposed to what

drug induced lupus because the drugs that cause it are acetylized by the liver