MSK Flashcards
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
iron deficiency anemia can do what to baby in utero
restrict fetal growth
treatment for Cretinism
levothyroxine (by 2 weeks of age)
why does cretinism present with mental retardation
because T4 is deficient and it is needed for normal brain development
Name disease:
- light pigment
- mousy odor
- developmental delay
Phenoketonuria
sensitivity
probability of a diseased person testing positive
specificity
the probability of a healthy person testing negative
positive predictive value
the probability that disease is present given a positive result
negative predictive value
the probability that disease is absent given a negative result
how do osteocytes help to regulate bone remodeling
because they can sense stress and they send signals to the osteoblasts to modulate them
what are known to be essential to spliceosomes and remove introns from preMRNA to form mature MRNA
snRNP (small ribonucleoproteins) SLE!
patients with myasthenia graves are sometimes found to have what else?
thymoma
thymoma shares embryological origin with?
inferior parathyroid gland
what pharyngeal pouch does the thymus develop from
3rd
what is alkaptonuria caused by
a deficiency of Homogentisic Acid Dioxygenase
accumulate homogentisic acid causes what?
pigment deposits in connective tissue in the body
alkaptonuria presents with what color dots in sclera and ear cartilage
blue-black dots
why does the urine of alkaptonuria patients turn black
because of the oxidation of homogentisic acid touching the air
marfan syndrome is a deficiency in what
fibrillar-1
where is fibrillar-1 found
- zonular fibers of the lens
- periosteum
- aortic media
calcium released form the sarcoplasmic reticulum binds to what to expose myosin to actin, causing contractoin
troponin c
what pulls tropomyosin out of the way so that actin and myosin can bind
troponin
when calcium is released from the sarcoplasmic reticulum because of depolarization, what receptor does it travel through
ryanodine receptor
what si responsible for initiating the extrinsic pathway of apoptosis through the cytoplasmic component called death doman
FAS
Fas is expressed on what cell type
T-lymphocytes
when Fas or FASl is mutated, what happens to t lymphocytes
auto reactive t cells excessively accumulate and autoimmune disease forms
reactive arthritis (reiter’s) affects what people
HLA-B27
reactive arthritis is commonly seen after what infections
campylobacter shigella salmonella yersinea chlaymida bartonella
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
tamoxifen and raloxifine are given for what situation
to decreased risk of breast cancer in high risk patients
raloxifine is specifically used for?
postmenopausal osteoperosis
tamoxifen is specifically used for?
adjuvant treatment for breast cancer
what are the UDE of tamoxifen
endometrial hyperplasia and cancer (this is why it isn’t used for postmenopausal osteoporosis)
what are the two estrogen receptor modulators
tamoxifen and raloxifeine
where is the antagonistic activity of raloxifine? where is the agonist?
antagonist- breast ( decreases breast cancer)
agonist- bone ( decreases bone remodeling)
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
what two things inactivate EF-2 by ribosylation, therefore inhibiting protein synthesis in host cell
C. Dificle, P. Aeuriginosa
what is the main toxin in clostridium Perf.
Lecithinase (phospholipase C or alpha toxin)
what does lecithinase do
catalyzes the splitting of phospholipids
antihistone antibodies are seen in?
Drug induced lupus
three drugs that cause drug induced lupus
hydralazine procainamide isoniazid (for TB) minocylcine etanercept (TNF-a inhibitor)
patients with slow acetylator are predisposed to what
drug induced lupus because the drugs that cause it are acetylized by the liver
