MSK Flashcards

1
Q

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

A

Caudal Regression Syndrome

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2
Q

iron deficiency anemia can do what to baby in utero

A

restrict fetal growth

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3
Q

treatment for Cretinism

A

levothyroxine (by 2 weeks of age)

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4
Q

why does cretinism present with mental retardation

A

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

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5
Q

Name disease:

  • light pigment
  • mousy odor
  • developmental delay
A

Phenoketonuria

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6
Q

sensitivity

A

probability of a diseased person testing positive

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7
Q

specificity

A

the probability of a healthy person testing negative

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8
Q

positive predictive value

A

the probability that disease is present given a positive result

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9
Q

negative predictive value

A

the probability that disease is absent given a negative result

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10
Q

how do osteocytes help to regulate bone remodeling

A

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

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11
Q

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

A

snRNP (small ribonucleoproteins) SLE!

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12
Q

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

A

thymoma

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13
Q

thymoma shares embryological origin with?

A

inferior parathyroid gland

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14
Q

what pharyngeal pouch does the thymus develop from

A

3rd

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15
Q

what is alkaptonuria caused by

A

a deficiency of Homogentisic Acid Dioxygenase

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16
Q

accumulate homogentisic acid causes what?

A

pigment deposits in connective tissue in the body

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17
Q

alkaptonuria presents with what color dots in sclera and ear cartilage

A

blue-black dots

18
Q

why does the urine of alkaptonuria patients turn black

A

because of the oxidation of homogentisic acid touching the air

19
Q

marfan syndrome is a deficiency in what

A

fibrillar-1

20
Q

where is fibrillar-1 found

A
  • zonular fibers of the lens
  • periosteum
  • aortic media
21
Q

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

A

troponin c

22
Q

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

A

troponin

23
Q

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

A

ryanodine receptor

24
Q

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

A

FAS

25
Q

Fas is expressed on what cell type

A

T-lymphocytes

26
Q

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

A

auto reactive t cells excessively accumulate and autoimmune disease forms

27
Q

reactive arthritis (reiter’s) affects what people

A

HLA-B27

28
Q

reactive arthritis is commonly seen after what infections

A
campylobacter
shigella
salmonella
yersinea
chlaymida
bartonella
29
Q

why is reactive arhtiris called “reactive”?

A

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

30
Q

tamoxifen and raloxifine are given for what situation

A

to decreased risk of breast cancer in high risk patients

31
Q

raloxifine is specifically used for?

A

postmenopausal osteoperosis

32
Q

tamoxifen is specifically used for?

A

adjuvant treatment for breast cancer

33
Q

what are the UDE of tamoxifen

A

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

34
Q

what are the two estrogen receptor modulators

A

tamoxifen and raloxifeine

35
Q

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

A

antagonist- breast ( decreases breast cancer)

agonist- bone ( decreases bone remodeling)

36
Q

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?

A

Leuprolide

37
Q

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

A

C. Dificle, P. Aeuriginosa

38
Q

what is the main toxin in clostridium Perf.

A

Lecithinase (phospholipase C or alpha toxin)

39
Q

what does lecithinase do

A

catalyzes the splitting of phospholipids

40
Q

antihistone antibodies are seen in?

A

Drug induced lupus

41
Q

three drugs that cause drug induced lupus

A
hydralazine
procainamide
isoniazid (for TB)
minocylcine
etanercept (TNF-a inhibitor)
42
Q

patients with slow acetylator are predisposed to what

A

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