Random last minute questions

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Transformers

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Took a timed test without answers/not sure which I got right or wrong and wanted follow-up. Sorry for the lack of answer choices but these were the ones I recall. Thanks!

1.) Meningitis with a strictly lymphocytes (this was the only part of CSF profile provided with faint AFP staining) in a child of a farmworker? My hunch is viral, but if the only options were bacterial (including Tb, listeria, strep pneumo)....would it be Tb since Tb/fungal have lymphocytes?

2.) Infant child comes in....doctor says initial DNR but parents refuse and so ventilation is started...few days later parents realize condition is not improving and decided to withdraw care...do you continue with the vent or follow parents wishes or consult ethics committee?

3.) Heavy menstrual bleeding in a child and her mom (both african american). What would you be most concerned about on labs? Choices came down to ultimately vwf def and Fe-def anemia...I chose vwF def because of the family history.

4.) Bilateral abdominal masses in an infant who pees a ton...question asked for a diagnosis. My initial hunch was ARPKD but this was not a choice. I think I picked nephrogenic diabetis insipidus...not sure.

5.) Stroke patient comes in...really not cooperating with hospital staff (doesn't appear to be delirium or dementia) and 4 days in says wants to be DNR. Family says patient never expressed such wishes in past and basically opposes DNR. Who do you listen to? This one was tricky because I went with the stroke patient indeed having decision making capacity (I didn't equate stroke with loss of decision making capacity) and listen to the patient. Ideally, I would've went with something along the lines of re-assess patient and his/her decision but this was not an option.

6.) Rando genetics question in a CFTR patient who had a genotype of I507/F508 and the phenotype of cystic fibrosis

In his family tree (which depicted genotypes), he got the I507 allele from his mom's side but there was NO F508 (either carrier or disease) in the paternal side. Answers had crazy choices: imprinting, uniparental disomy, heterozygous disomy, and reactivation of a silenced gene. I think I picked the reactivation of a silenced gene. I was looking for mutation or mosaicism but that was not there.

7.) Loose Diarrhea/diffuse abdominal pain in a foreigner who didn't drink water but did drink some frozen fruit juice. Choices were your classic enteric G(-) bacteria: Camplyobacter jejuni, E. coli, salmonella.

I think I went with E. coli- seemed the most common since the diarrhea was non-bloody.

8.) Someone with gastritis with numerous RF...which one contributes the most- smoking, stress, hot liquids, tynenol use?

9.) Child who becomes hypoglycemia/has baseline hypoglycemia immediately 30 minafter a meal but becomes normoglycemia immediately after eating sugars/taking glucagon. Choices were glycogen storage disorder, insulinoma, brush border enzyme deficiency. I think I went with insulinoma since insulin would spike after a meal and also remain elevated at baseline.

10.) Untrained athlete who starts feeling dizzy 5 miles into a 50 mile bike ride in hot 100 degree+ and high humid temps....if he had trained should he have done that would've been most beneficial? (I think the choices were like drink tons of fluid, change core-body temp)...I went with the try to affect core-body temp, I guess if you lower it, you sweat better (but in retrospect I think that's wrong since the conditions are very humid and sweating is ineffective)?

11.) What is your most important cooling mechanism of training in low humid, hot temperatures? Radiation, convection, evaporative cooling (I think I picked this one).

12.) Someone with a rash who goes out in the woods...sounds like contact dermatitis (>2d)...question asked biopsy features....I think I went with spongiosis since I saw this in UWorld

13.) In a Pneumothorax...what is increased? Alveolar dead space (went with this one) or pulmonary vascular resistance? The latter I felt would've been more common in a PE but I guess my mind was boggling with the concept of reactive vasoconstriction.

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Took a timed test without answers/not sure which I got right or wrong and wanted follow-up. Sorry for the lack of answer choices but these were the ones I recall. Thanks!

1.) Meningitis with a strictly lymphocytes (this was the only part of CSF profile provided with faint AFP staining) in a child of a farmworker? My hunch is viral, but if the only options were bacterial (including Tb, listeria, strep pneumo)....would it be Tb since Tb/fungal have lymphocytes?

2.) Infant child comes in....doctor says initial DNR but parents refuse and so ventilation is started...few days later parents realize condition is not improving and decided to withdraw care...do you continue with the vent or follow parents wishes or consult ethics committee?

3.) Heavy menstrual bleeding in a child and her mom (both african american). What would you be most concerned about on labs? Choices came down to ultimately vwf def and Fe-def anemia...I chose vwF def because of the family history.

4.) Bilateral abdominal masses in an infant who pees a ton...question asked for a diagnosis. My initial hunch was ARPKD but this was not a choice. I think I picked nephrogenic diabetis insipidus...not sure.

5.) Stroke patient comes in...really not cooperating with hospital staff (doesn't appear to be delirium or dementia) and 4 days in says wants to be DNR. Family says patient never expressed such wishes in past and basically opposes DNR. Who do you listen to? This one was tricky because I went with the stroke patient indeed having decision making capacity (I didn't equate stroke with loss of decision making capacity) and listen to the patient. Ideally, I would've went with something along the lines of re-assess patient and his/her decision but this was not an option.

6.) Rando genetics question in a CFTR patient who had a genotype of I507/F508 and the phenotype of cystic fibrosis

In his family tree (which depicted genotypes), he got the I507 allele from his mom's side but there was NO F508 (either carrier or disease) in the paternal side. Answers had crazy choices: imprinting, uniparental disomy, heterozygous disomy, and reactivation of a silenced gene. I think I picked the reactivation of a silenced gene. I was looking for mutation or mosaicism but that was not there.

7.) Loose Diarrhea/diffuse abdominal pain in a foreigner who didn't drink water but did drink some frozen fruit juice. Choices were your classic enteric G(-) bacteria: Camplyobacter jejuni, E. coli, salmonella.

I think I went with E. coli- seemed the most common since the diarrhea was non-bloody.

8.) Someone with gastritis with numerous RF...which one contributes the most- smoking, stress, hot liquids, tynenol use?

9.) Child who becomes hypoglycemia/has baseline hypoglycemia immediately 30 minafter a meal but becomes normoglycemia immediately after eating sugars/taking glucagon. Choices were glycogen storage disorder, insulinoma, brush border enzyme deficiency. I think I went with insulinoma since insulin would spike after a meal and also remain elevated at baseline.

10.) Untrained athlete who starts feeling dizzy 5 miles into a 50 mile bike ride in hot 100 degree+ and high humid temps....if he had trained should he have done that would've been most beneficial? (I think the choices were like drink tons of fluid, change core-body temp)...I went with the try to affect core-body temp, I guess if you lower it, you sweat better (but in retrospect I think that's wrong since the conditions are very humid and sweating is ineffective)?

11.) What is your most important cooling mechanism of training in low humid, hot temperatures? Radiation, convection, evaporative cooling (I think I picked this one).

12.) Someone with a rash who goes out in the woods...sounds like contact dermatitis (>2d)...question asked biopsy features....I think I went with spongiosis since I saw this in UWorld

13.) In a Pneumothorax...what is increased? Alveolar dead space (went with this one) or pulmonary vascular resistance? The latter I felt would've been more common in a PE but I guess my mind was boggling with the concept of reactive vasoconstriction.
bump!!
 
6.) Rando genetics question in a CFTR patient who had a genotype of I507/F508 and the phenotype of cystic fibrosis

In his family tree (which depicted genotypes), he got the I507 allele from his mom's side but there was NO F508 (either carrier or disease) in the paternal side. Answers had crazy choices: imprinting, uniparental disomy, heterozygous disomy, and reactivation of a silenced gene. I think I picked the reactivation of a silenced gene. I was looking for mutation or mosaicism but that was not there.

Weird question, not sure if you're misremembering it as I haven't a clue how that's possible given the answer choices.

7.) Loose Diarrhea/diffuse abdominal pain in a foreigner who didn't drink water but did drink some frozen fruit juice. Choices were your classic enteric G(-) bacteria: Camplyobacter jejuni, E. coli, salmonella.

I think I went with E. coli- seemed the most common since the diarrhea was non-bloody.

I agree. Frozen juice pops are made out of water, so it still sounds like ETEC.

8.) Someone with gastritis with numerous RF...which one contributes the most- smoking, stress, hot liquids, tynenol use?

NSAIDs

9.) Child who becomes hypoglycemia/has baseline hypoglycemia immediately 30 minafter a meal but becomes normoglycemia immediately after eating sugars/taking glucagon. Choices were glycogen storage disorder, insulinoma, brush border enzyme deficiency. I think I went with insulinoma since insulin would spike after a meal and also remain elevated at baseline.

Insulinoma makes the most sense given the timeline of symptoms.

13.) In a Pneumothorax...what is increased? Alveolar dead space (went with this one) or pulmonary vascular resistance? The latter I felt would've been more common in a PE but I guess my mind was boggling with the concept of reactive vasoconstriction.

Alveolar dead space occurs with PE (no flow => dead space). Pulmonary vascular resistance increases any time you deviate from FRC-- this is the answer.
 
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6.) Rando genetics question in a CFTR patient who had a genotype of I507/F508 and the phenotype of cystic fibrosis

In his family tree (which depicted genotypes), he got the I507 allele from his mom's side but there was NO F508 (either carrier or disease) in the paternal side. Answers had crazy choices: imprinting, uniparental disomy, heterozygous disomy, and reactivation of a silenced gene. I think I picked the reactivation of a silenced gene. I was looking for mutation or mosaicism but that was not there.

Weird question, not sure if you're misremembering it as I haven't a clue how that's possible given the answer choices.

7.) Loose Diarrhea/diffuse abdominal pain in a foreigner who didn't drink water but did drink some frozen fruit juice. Choices were your classic enteric G(-) bacteria: Camplyobacter jejuni, E. coli, salmonella.

I think I went with E. coli- seemed the most common since the diarrhea was non-bloody.

I agree. Frozen juice pops are made out of water, so it still sounds like ETEC.

8.) Someone with gastritis with numerous RF...which one contributes the most- smoking, stress, hot liquids, tynenol use?

NSAIDs

9.) Child who becomes hypoglycemia/has baseline hypoglycemia immediately 30 minafter a meal but becomes normoglycemia immediately after eating sugars/taking glucagon. Choices were glycogen storage disorder, insulinoma, brush border enzyme deficiency. I think I went with insulinoma since insulin would spike after a meal and also remain elevated at baseline.

Insulinoma makes the most sense given the timeline of symptoms.

13.) In a Pneumothorax...what is increased? Alveolar dead space (went with this one) or pulmonary vascular resistance? The latter I felt would've been more common in a PE but I guess my mind was boggling with the concept of reactive vasoconstriction.

Alveolar dead space occurs with PE (no flow => dead space). Pulmonary vascular resistance increases any time you deviate from FRC-- this is the answer.

8- Tynenol acts centrally primarily and is not an NSAID. I still think long term smoking (destroying mucus barrier) is the greatest RF...i agree maybe if it were aspirin or an nsaid, i would pick that



Also Any thoughts on the others? Thanks!
 
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I would also say smoking, since there was a question on one of the NBMEs about a duodenal ulcer and smoking was the answer. I think smoking is usually the answer for quite a few RF qs.
 
Also, the CFTR question the answer is uniparental disomy (FA 2014 pg 85, up top) - Consider uniparental disomy in a person with recessive disorder who only has one parent as carrier. It's also on wikipedia - http://en.wikipedia.org/wiki/Uniparental_disomy

Says large regions of homozygosity are uncovered in uniparental disomy in meiosis 2 (i.e isodisomy)...cool
 
Also, the CFTR question the answer is uniparental disomy (FA 2014 pg 85, up top) - Consider uniparental disomy in a person with recessive disorder who only has one parent as carrier. It's also on wikipedia - http://en.wikipedia.org/wiki/Uniparental_disomy

Says large regions of homozygosity are uncovered in uniparental disomy in meiosis 2 (i.e isodisomy)...cool

It seems like in the question, however...neither parent is the carrier.
Dad- Wildtype homozygous (no disease)
Mom- Carrier for I507 (no disease)
Child: F508 (disease allele)/I507 = CFTR disease

Basically...the issue is 2 fold:
a. where did that F508 allele pop up in the child?
b. even if the F508 allele did pop up, CFTR is autosomal recessive and requires homozygous recessivity to manifest disease.

Hence, doesn't "reactivation of a silenced gene" make sense?...i.e.- the mom's I507 is perhaps a transcription factor to activate the gene for dad's F508 deformed gene product = CF
 
It seems like in the question, however...neither parent is the carrier.
Dad- Wildtype homozygous (no disease)
Mom- Carrier for I507 (no disease)
Child: F508 (disease allele)/I507 = CFTR disease

Basically...the issue is 2 fold:
a. where did that F508 allele pop up in the child?
b. even if the F508 allele did pop up, CFTR is autosomal recessive and requires homozygous recessivity to manifest disease.

Hence, doesn't "reactivation of a silenced gene" make sense?...i.e.- the mom's I507 is perhaps a transcription factor to activate the gene for dad's F508 deformed gene product = CF

Well see, the answer is uniparental disomy because it indeed is considered where one parent is a carrier, the other is not (both don't have disease) and the child has the disease. The explanation I read on wikipedia (which is confusing to me) is that when you have isodisomy, it uncovers (whatever that means) the other recessive gene. Weird concept.

Here is the wiki quote - "Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners "

Reactivation of a silenced gene is a stretch I think.
 
Well see, the answer is uniparental disomy because it indeed is considered where one parent is a carrier, the other is not (both don't have disease) and the child has the disease. The explanation I read on wikipedia (which is confusing to me) is that when you have isodisomy, it uncovers (whatever that means) the other recessive gene. Weird concept.

Here is the wiki quote - "Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners "

Reactivation of a silenced gene is a stretch I think.

Still a bit confusing...The only time I have heard UPD being tossed around was in two cases:
a. PW-Angelman where you get 2 copies of the imprinted allele from a single parent hence disease manifestation
b. Partial mole (2 copies from dad)

If it was uniparental isodisomy (Meoisis II event) from the Mom...wouldn't the patient be I507/I507?! I am just confused where that F508 magically pops up.
 
Still a bit confusing...The only time I have heard UPD being tossed around was in two cases:
a. PW-Angelman where you get 2 copies of the imprinted allele from a single parent hence disease manifestation
b. Partial mole (2 copies from dad)

If it was uniparental isodisomy (Meoisis II event) from the Mom...wouldn't the patient be I507/I507?! I am just confused where that F508 magically pops up.
I didn't think Prader-Willi and Angelman were examples of uniparental disomy. My understanding was that you have either a maternal or paternal gene deletion (random) in a space where there is also imprinting on the other parent's chromosome at the same gene location. I'm not looking at a book currently to confirm but I thought that was generally the mechanism.
 
I didn't think Prader-Willi and Angelman were examples of uniparental disomy. My understanding was that you have either a maternal or paternal gene deletion (random) in a space where there is also imprinting on the other parent's chromosome at the same gene location. I'm not looking at a book currently to confirm but I thought that was generally the mechanism.

That is the major mechanism, you are correct. UPD is the minor mechanism.
 
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I didn't think Prader-Willi and Angelman were examples of uniparental disomy. My understanding was that you have either a maternal or paternal gene deletion (random) in a space where there is also imprinting on the other parent's chromosome at the same gene location. I'm not looking at a book currently to confirm but I thought that was generally the mechanism.
Micro deletions are the classic etiology of PW-AS and PW-AS is a classic example of an imprinting disease due to isodisomy.
 
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Still a bit confusing...The only time I have heard UPD being tossed around was in two cases:
a. PW-Angelman where you get 2 copies of the imprinted allele from a single parent hence disease manifestation
b. Partial mole (2 copies from dad)

If it was uniparental isodisomy (Meoisis II event) from the Mom...wouldn't the patient be I507/I507?! I am just confused where that F508 magically pops up.
There must be some piece of information that you're forgetting or misremembering. It doesn't make sense.
 
There must be some piece of information that you're forgetting or misremembering. It doesn't make sense.
http://ocw.tufts.edu/data/20/301035/301060_xlarge.jpg

https://myhealing.files.wordpress.com/2011/06/upd.jpg

Look at that. So back to the question, if it was uniparental isodisomy (Meoisis II event) from the Mom, as you are suggesting...offspring would be be I507/I507...not F508/I507 as the question stem states. I am just confused where that F508 magically pops up.
 
http://ocw.tufts.edu/data/20/301035/301060_xlarge.jpg

https://myhealing.files.wordpress.com/2011/06/upd.jpg

Look at that. So back to the question, if it was uniparental isodisomy (Meoisis II event) from the Mom, as you are suggesting...offspring would be be I507/I507...not F508/I507 as the question stem states. I am just confused where that F508 magically pops up.
That's not what I was suggesting; it doesn't make sense for the very reason that you just stated.

Thanks for the refresher on isodisomy, but I'm not sure what that was meant to achieve..
 
That's not what I was suggesting; it doesn't make sense for the very reason that you just stated.

Thanks for the refresher on isodisomy, but I'm not sure what that was meant to achieve..
My bad I thought you were in favor of isodisomy as the answer..nah those were the choices, not misremembering it.
 
The Tufts Open Courseware Initiative Web Site Has Been Retired.

https://myhealing.files.wordpress.com/2011/06/upd.jpg

Look at that. So back to the question, if it was uniparental isodisomy (Meoisis II event) from the Mom, as you are suggesting...offspring would be be I507/I507...not F508/I507 as the question stem states. I am just confused where that F508 magically pops up.

The answer is heterozygous disomy (or heterodisomy). The offspring gets 2 copies of the mutant gene from his mom but bc of an error during meiosis I (so sometime between ovulation and fertilization), he's 1507/1508
 
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