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aren't retinal cells a type of somatic cell? Why not is the mutation not considered in the somatic cell of the child?
Although this mutation would be considered somatic, I believe the question is just asking you to be specific as to which cells. If you answered "somatic cells of the child," that's quite broad and could apply to almost anything.
There is a Uworld qx that explain this in detail> ID: 863
I read the answer options too fast so got this wrong. It is a somatic cell type, but somatic in general implies a higher risk for developing other cancers. The hint here is that the physician stated he is unlikely to develop any other neoplasms, so it is a specific double hit mutation in the retina.
wouldn't she have any possibility of developing osteosarcoma as well? :(
did some reading and it seems like osteosarcoma only occurs in familial retinoblastoma with RB mutation
But how can a 5 year old get two mutations to get retinoblastoma? In 5 years?! Obviously doctor is probably wrong LOL
When the answer is so obvious that you pick a stupid answer instead of it. DOH
Funny thing I noticed is "he is alert and cooperative. He appears to be in pain" So he was so high that he was alert and cooperative during the basal ganglia hemorrhage
@sympathetikey That fucking guy who drinks 2 six packs a day with liver failure got me like that.
probably the "drug" have to be a stimulant or a hallucinogen which causes HTN & Tachycardia.
Lol. I got the right answer but took long time
The patient's B.P. and pulse are raised + Bilateral dilated pupils = Most likely use of a stimulant
Thats how I reasoned it anyways
Bilateraly messed up pupils = Drugs (most of the time)
why is there basal ganglia hemorrhage?
Wait! doesn't it take like a week or two to get the results back!?!? i chose to measure catecholamine levels because that may be more timely. but clearly i'm wrong
basal ganglia hemorrhage is an intraparenchymal hemorrhage secondary to hypertension. according to FA, this occurs most commonly at the Basal Ganglia (FA19 pg 501)
My thinking is that ANP causes natriuresis, so you're losing salt and water at the same time (isoosmotic fluid?). Meanwhile, ADH absorbs only free water, so it would dilute the serum.
Correct me if i'm wrong.
Ohhh you are right. Thank you for the explanation! I got so fixated on that one mechanism haha.
I actually thought that the posterior column findings were likely due to B12 deficiency - "subactue combined degeneration", due to malabsorption, as we see in this pt (. Turns out vitamin E can also cause symptoms which look like subacute combined degeneration: https://www.ncbi.nlm.nih.gov/pubmed/9012278, as does Copper (TIL): https://www.ncbi.nlm.nih.gov/pubmed/15249607
Vitamin E deficiency causes posterior column findings and hemolytic anemia :)
The way I think about it is that essentially, vitamin E is an anti-oxidant. Vitamin E deficiency = LOTS of oxidation, i.e. free radicals, which are toxic to most cells in the body (particularly myelination and RBCs). That's why it can be used with Alzheimer's patients.
Vitamin E presents like B12 deficiency but without megaloblastic anemia
B12 would also affect lateral corticospinal tracts, vit E doesn't to my knowledge (b12 deficiency would also present with hyperreflexia but E deficiency just romberg sign, loss of proprioception and touch, ataxia)