MSK

Question 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

Answer 1

Caudal Regression Syndrome

Question 2

iron deficiency anemia can do what to baby in utero

Answer 2

restrict fetal growth

Question 3

treatment for Cretinism

Answer 3

levothyroxine (by 2 weeks of age)

Question 4

why does cretinism present with mental retardation

Answer 4

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

Question 5

Name disease:

• light pigment
• mousy odor
• developmental delay

Answer 5

Phenoketonuria

Question 6

sensitivity

Answer 6

probability of a diseased person testing positive

Question 7

specificity

Answer 7

the probability of a healthy person testing negative

Question 8

positive predictive value

Answer 8

the probability that disease is present given a positive result

Question 9

negative predictive value

Answer 9

the probability that disease is absent given a negative result

Question 10

how do osteocytes help to regulate bone remodeling

Answer 10

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

Question 11

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

Answer 11

snRNP (small ribonucleoproteins) SLE!

Question 12

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

Answer 12

thymoma

Question 13

thymoma shares embryological origin with?

Answer 13

inferior parathyroid gland

Question 14

what pharyngeal pouch does the thymus develop from

Answer 14

3rd

Question 15

what is alkaptonuria caused by

Answer 15

a deficiency of Homogentisic Acid Dioxygenase

Question 16

accumulate homogentisic acid causes what?

Answer 16

pigment deposits in connective tissue in the body

Question 17

alkaptonuria presents with what color dots in sclera and ear cartilage

Answer 17

blue-black dots

Question 18

why does the urine of alkaptonuria patients turn black

Answer 18

because of the oxidation of homogentisic acid touching the air

Question 19

marfan syndrome is a deficiency in what

Answer 19

fibrillar-1

Question 20

where is fibrillar-1 found

Answer 20

• zonular fibers of the lens
• periosteum
• aortic media

Question 21

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

Answer 21

troponin c

Question 22

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

Answer 22

troponin

Question 23

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

Answer 23

ryanodine receptor

Question 24

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

Answer 24

FAS

Question 25

Fas is expressed on what cell type

Answer 25

T-lymphocytes

Question 26

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

Answer 26

auto reactive t cells excessively accumulate and autoimmune disease forms

Question 27

reactive arthritis (reiter's) affects what people

Answer 27

HLA-B27

Question 28

reactive arthritis is commonly seen after what infections

Answer 28

``` campylobacter shigella salmonella yersinea chlaymida bartonella ```

Question 29

why is reactive arhtiris called "reactive"?

Answer 29

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

Question 30

tamoxifen and raloxifine are given for what situation

Answer 30

to decreased risk of breast cancer in high risk patients

Question 31

raloxifine is specifically used for?

Answer 31

postmenopausal osteoperosis

Question 32

tamoxifen is specifically used for?

Answer 32

adjuvant treatment for breast cancer

Question 33

what are the UDE of tamoxifen

Answer 33

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

Question 34

what are the two estrogen receptor modulators

Answer 34

tamoxifen and raloxifeine

Question 35

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

Answer 35

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

Question 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?

Answer 36

Leuprolide

Question 37

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

Answer 37

C. Dificle, P. Aeuriginosa

Question 38

what is the main toxin in clostridium Perf.

Answer 38

Lecithinase (phospholipase C or alpha toxin)

Question 39

what does lecithinase do

Answer 39

catalyzes the splitting of phospholipids

Question 40

antihistone antibodies are seen in?

Answer 40

Drug induced lupus

Question 41

three drugs that cause drug induced lupus

Answer 41

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

Question 42

patients with slow acetylator are predisposed to what

Answer 42

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