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meningitis
Why others not it:
Anticipation: Trinucleotide repeats; CAG (Huntington), CTG (Myotonic dyst), GAA (ataxia telangiectasia), CGG(Fragile X)
Chromosomal rearrangement: Many but can think of Trisomy 21, BCR-Abl, etc
Imprinting: Prader willi, angelman
Loss of heterozygosity: loss of a single parent's contribution to part of its genome. A common occurrence in cancer, it often indicates the presence of tumor suppressor gene in the lost region.
+3
kai
trinucleotide repeats are not associated with breast cancer
Neither are chromosomal rearrangements
BRCA1,2 tumor supressor genes are associated with breast cancer, which is why I chose E, but I guess I should have bought the new First Aid..........
+
tulsigabbard
So is the amplification of the receptors unrelated to BRCA 1, 2? I'm still stuck on this as Sketchy states that breast cancer falls under the "two-hit" model.
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tallerthanmymom
@tulsigabbard I think one of the keys here is the question stem; " what is the most likely cause of the OVERexpression in this pts tumor cells?" --> I think that the "2-Hit" model would lead to UNDERexpression of a tumor suppression gene rather than overexpression. Whereas amplification would cause OVERexpression of the HER2/estrogen and progesterone receptors. But, I don't think that amplification would be the answer if they were asking about a triple negative cancer.
+1
tallerthanmymom
Also this is on page 632 of FA 2018 for those using that version
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drzed
I can understand why @tulsigabbard dropped out of the race--she's taking step 1 soon LOL
+3
winelover777
Agree. PTT does not have to be elevated to be VWD.
+6
tekkenman101
Except there's no laboratory verified bleeding time given, only aggregation which has to do with platelet-platelet interaction.
+1
drdoom
The prompt is only asking "what's the likely cause of obesity?" It's not that they're "allowing" him to eat more than exercise. (Few parents can monitor their kids that closely!) The prompt is only asking what's the most likely explanation for his 95th percentile weight and BMI (given that he otherwise appears normal); in the United States, the most likely explanation is eating way more than you expend.
+2
niboonsh
aka 'merica #firstworldproblems
+5
makinallkindzofgainz
If you are obese, it's because you have consumed calories in excess of your energy expenditure, end of story. (there are factors that affect your energy expenditure, but the simple statement is 100% true, unless you want to argue against the laws of thermodynamics). A is the only correct answer.
+1
castlblack
I think the reason they point out the average weight of the parents is because leptin disorders are inherited. It helps you eliminate that answer choice.
+2
someduck3
There was a question about this in Uworld. for *stubborn* patients who are "not ready to quit" just yet you use the motivational approach. The technique acronym is OARS: Open ended questions, Affirmation, Reflect, Summarize.
+7
yotsubato
Additionally the guy himself says "I know smoking is bad for me" Like he knows its bad, he doesnt care, but give him nicotine replacement and maybe he'll quit...
+7
usmleuser007
I didn't think nicotine replacement was a good answer choice b/c if he isn't ready to quit then why would he agree to use alternatives.
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usmleuser007
People who smoke and are addicted like the feel of the cigs and environmental ques. Using replacements would be more challenging. The second best answer choice would have been Rx.
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titanesxvi
why not detail the long-therm health effects of smoking?
+1
seracen
@ titanesxvi: I assume because they always like the most "open ended" response.
If you start detailing the long term effects, the patient might interpret that as attempting to convince, and might resist or feel pressured. By having the patient elucidate what they consider pros and cons, you allow it to be an open discussion.
+
suckitnbme
Also because the patient states he already knows smoking hurts him in the long run so it may come off as lecturing on something he already knows. I view this as what is the least-judgmental way to facilitate the patient moving on to the next step of the stages of change model largely of their own volition.
+2
usmlehulk
i choose the option c which is initiate a pulmunary function test. why is that a wrong choice?
+3
makinallkindzofgainz
@usmlehulk - he's asymptomatic, knows it is not good for him in the long run, but is not quite ready to make a change. It is best to talk with him about the pros/cons of cessation so that maybe he will make the decision to quit smoking soon.
Ordering a pulmonary function test is not going to be useful. Let's say it's decreased. Ok, so what? It doesn't change management in this patient right now.
+1
rainlad
Think of it as motivational interviewing
+1
tulsigabbard
Still don't like the answer given that the patient already stated that he knows that it can do him harm in the long run. It seems like overkill.
+4
destinedfx
^ you're right but doctors are socially retarded at times
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meningitis
Why others not it:
Anticipation: Trinucleotide repeats; CAG (Huntington), CTG (Myotonic dyst), GAA (ataxia telangiectasia), CGG(Fragile X)
Chromosomal rearrangement: Many but can think of Trisomy 21, BCR-Abl, etc
Imprinting: Prader willi, angelman
Loss of heterozygosity: loss of a single parent's contribution to part of its genome. A common occurrence in cancer, it often indicates the presence of tumor suppressor gene in the lost region.
+3
kai
trinucleotide repeats are not associated with breast cancer
Neither are chromosomal rearrangements
BRCA1,2 tumor supressor genes are associated with breast cancer, which is why I chose E, but I guess I should have bought the new First Aid..........
+
tulsigabbard
So is the amplification of the receptors unrelated to BRCA 1, 2? I'm still stuck on this as Sketchy states that breast cancer falls under the "two-hit" model.
+
tallerthanmymom
@tulsigabbard I think one of the keys here is the question stem; " what is the most likely cause of the OVERexpression in this pts tumor cells?" --> I think that the "2-Hit" model would lead to UNDERexpression of a tumor suppression gene rather than overexpression. Whereas amplification would cause OVERexpression of the HER2/estrogen and progesterone receptors. But, I don't think that amplification would be the answer if they were asking about a triple negative cancer.
+1
tallerthanmymom
Also this is on page 632 of FA 2018 for those using that version
+
drzed
I can understand why @tulsigabbard dropped out of the race--she's taking step 1 soon LOL
+3
Per FA (pg. 636): Concerning breast cancer...
"Amplification/overexpression of estrogen/ progesterone receptors or c-erbB2 (HER2, an EGF receptor) is common; ER โ, PR โ, and HER2/neu โ form more aggressive."