General Flashcards
Inherited genetic defect leading to decreased chondrocyte proliferation in the growth plate of long bone
GOF mutation in FGF-R3 (cell signaling molecule) -> constant activation inhibits chondrocyte proliferation -> short limbs
What IL mediates anaphylactic rxn
IL-4 from Th2 cells
What does inulin VOD estimate
Extracellular fluid volume (so plasma + interstitial)
What does RISA VOD estimate
Plasma volume
What does Cr-RBC estimate
Blood volume
What do D2O, antipyrine, or tritiated water estimate
Total body water
Sudden cardiac death from cocaine, what enzyme is elevated in myocardial cells prior to death?
PFK-1 - rate-limiting enzyme of glycolysis, b/c myocardial cells switch to anaerobic metab and glycolysis becomes the sole source of ATP
Formula to calculate steady state concentration
Dosing rate = Css x Clearance / F
F = 1 w/ IV
Starting with 285 mOsmol/kg H2O extracellular fluid osmolality and 42 L total body water, consume 3 L water and 10 mEq sodium, what’s now the extracellular fluid osmolality?
Sodium consumed is very little so no effect (normal extracellular sodium conc is 140 mEq/L)
Consume 3 L so this will decrease (dilute out) extracellular osmolality by about 7% (3/42) –> so pick whatever is less than 285 mOsmol/kg but still in reasonable range
4-yo girl w/ ravenous apatite and rapid weight gain, floppy as a child, what’s the finding on chromosome?
Abnormal methylation on chr 15
Prader-Willi
Difference bet what happens to APC and ras in colon cancer
Deletion or LOF mutation in APC (tumor suppressor)
ras is proto-oncogene so it would be amplified, induced, or have GOF mutation
What would you find in IgA deficiency on top of recurrent mucosal infection
Increased atopy (atopic allergy) -> switches to IgE more since can’t make IgA
What would a pt w/ C3 deficiency be more susceptible to?
type III hypersensitivity - b/c it’s immune complex mediated, and there’s not enough C3 around to clear these complexes from blood stream
Ab against what structure in measles virus is protective?
Hemagglutinin
The GC in LN contains cells undergoing what processs?
Isotype switching
Where do you harvest saphenous vein?
Medial thigh inferolateral to pubic tubercle (branch off of external iliac vein)
Lateral foot sensation?
SurAL nerve
Medial foot sensation?
Saphenous nerve
What kind of protein is n-MYC?
Transcription factor
What kind of protein is k-RAS? And what pathway does it participate in?
GTPase (G-protein signaling)
Ras/MAP kinase pathway
How do you calculate attack rate?
Ratio of # of people who were exposed and developed illness over # of people who were exposed
Example: to calculate attack rate of potato salad, both top and bottom numbers will have to include people who had potato salad in combination with other things as well (not just potato salad alone)
Thymic aplasia + hypogammaglobulinemia in infancy. What’s the defect?
SCID
Not common variable immunodeficiency because that wouldn’t be so severe as to have thymic aplasia and that would present after neonatal period
What’s responsible for variable presentations in 2 siblings w/ the same mitochondrial disease?
Heteroplasmy -> different organellar genomes (mutated and wild type) appearing w/in a single cell
What do most homeobox-containing genes code for?
Transcription factors that play a role in morphogenesis