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Few things. History always comes first. She also has even more indirect bili than direct. There’s also no other indication of obstruction clinically (such as pruritis), and you can’t infer an elevated lab value (alk phos) and rely on that in order to have everything come together. They have to give it to you.
I saw this question on Gilbert’s and also put down increased ALP. I noticed the relapsing-remitting history. However, my thoughts were that a direct bilirubinemia is a false finding in Gilberts (since it is due to lower UDP enzyme activity), and would more likely indicate obstruction. As you said, you would consciously neglect this finding in favor of the history? For these specific NBME style questions -- you know, the wishy/washy ones -- would you follow the principle of “history first”?
@morelife, Plethora of evidence first. Here everything points in one direction except one small detail. If you were to make a list of pro/cons for each diagnosis using history, physical and objective data (labs, imaging, etc), the scales usually tip firmly in one direction.
also, unless I'm mistaken, it's not a direct bilirubinemia - tbili is 3 and direct is 1, so unconjugated is 2. They're both elevated. Even with a decrease in function of the enzyme, it still works, so if unconj bili increases, you'll get somewhat of an increase of conjugated bili
@wowo, that makes sense if the unconj bili is due to hemolysis but it doesn't make sense if pathophys is literally the conjugation step. I would have expected DECREASED conjugated bili, if anything.
Summary of metabolic issues relating to hyperammonemia
i'm leaning towards Ornithine transcarbamylase deficiency.
Not sure why this isn't considered a mitochondrial disorder since the issue is Ornithine transcarbamylase deficiency in the mitochondria?
if it was mitochondrial disorder no one would escape
figure in OTC deficiency, they might have to explicitly mention the orotic aciduria AND typically presents earlier, around 24-48hrs of life after they've fed (at least per BB)
+ also per BB, propionic acidemia and MM acidemia have an onset of weeks to months and lead to build up of organic acids --> acidemia in addition to hyperammonemia (not sure why, but several aa enter the TCA cycle via propionyl CoA --> methylmalonyl CoA --> succinyl CoA, but now this is defunct d/t enzyme deficiencies...?). Anywho, propionic acidemia described on FA2019 p85, but doesn't list hyperammonemia
i think it cannot be Ornithine transcarbamylase deficiency bc it is XR disease. this pt has a healthy 2yr old brother which rules out X-linked recessive disease correct me if i m wrong
it is 100% Propionic acidemia Uworld Q-id: 1340. it is an exact copy question of uworld. i got it wrong bc i forgot these are organic acids. But i am still confused on 2 things
1-how does acidosis cause Hypoglycemia and Ketosis.
2-why is Ammonia elevated in these pts bc urea cycle will be fine?
1) hyperammonemia is seen in all urea cycle disorders except arginase deficiency
2) organic acids directly inhibit urea cycle => hyperammonemia (from UWorld)
According to UW, there is another question # 1341. This one refers to methylmalonic acidemia (ORGANIC ACIDEMIA). HYPOGLYCEMIA results from overall increased metabolic rate leading to increased glucose utilization and direct toxic (-) of gluconeogenesis by organic acids. The presence of hypoglycemia leads to increased free fatty acid metabolism that produces KETONES, resulting in a further anion gap met acidocis. Finally, organic acids also directly (-) the urea cycle, leading to HYPERAMMONEMIA.
Can be congenital mild Tricuspid stenosis also. it also exaggerate during preg
Wouldn't Tricuspid stenosis be a systolic murmur?
I mean diastolic*
I think that a murmur of grade 2/6 is a clue for flow murmur. Maybe any pathologic cause of murmur would be exaggerated in pregnancy (due to increased blood volume)
Probably in part due to early age presentation, but I hear you
FA2019 p518 - process of elim for other spinal cord lesions
Also syringomyelia wouldn't have a position sense issue
Due to compression of the superior colliculus in the tectum, I believe
tectum as in the superior colliculus
I would say because this happened between two bacteria, but in transduction what causes the acquisition of bacterial resistance is coming from a bacteriophage, which is a virus that infects bacteria, but that is never hinted at the question!
Quick Overview of the involved topics and answer choices that are relevant in this question:
Transduction: Involves phage, cleaves DNA and takes a part with it as it is packaged. Generalized is when is happens by accident. Specialized is an excision event.
Transformation: bacteria takes up naked DNA around it and incorporates it therefore becoming "transformed" e.g. (SHiN) S. Pneuma, H. Influenza type B, and Neisseria.
Transposition: Jumping from one location to another within same bacterial organism (e.g. from chromosome to plasmid)
Conjugation: Above mentioned plasmid gets transferred from conjugal bridge from one bacteria to another.
Easy here...first both are G-ves which likely have a sex pilus and if cultured together as in this case transfer their plasmid. Transduction need phage. Transposition is exchange of genetic material inside the bacteria b/n the dna and the plasmid or vv (FA2019)
Incarcerated hernia. If the contents of the hernia become trapped in the weak point in the abdominal wall, it can obstruct the bowel, leading to severe pain, nausea, vomiting, and the inability to have a bowel movement or pass gas.
Like really? Why is he not in pain?
I thought that inguinal hernias were reducible?
could be a femoral hernia as they are more likely to cause incarceration. They do, however, present more often in females. (FA 2019- 364)
incarcerated, not strangulated, thus no pain as there's no serious tissue damage/ischemia. Incarcerated hernias may progress to strangulated in which case he would have pain
Under section, "complications"
The kid has albinism, which is due to decreased tyrosinase activity. If he has a problem metabolizing Phenylalanine, he would be presenting with the PKU sx like intellectual disability, musty body odor, etc., in addition to his fair complexion.
I see, so if it was PKU he wouldn’t just be presenting for a routine examination. It would be one of those “oh crap what’s wrong with my baby” ones.
Just a note that UWorld says phenylketonuria patients ALSO have albinism, it's just that the neuro sx and musty order are giveaways.
Technically, albinism is a problem processing DOPA, and not tyrosine, no? I always associated "tyrosine processing defect" with ochronosis, which is why I didn't choose tyrosine. Guess I'm wrong.
@pathogen7 you're not wrong it is specifically DOPA but would any of the other answer choices make any sense over tyrosine?
FA 2019 p51
Had the same reasoning
I get that it's not significant, but why is it 0.05<p<1 and not p>1.0
nvm, it's can't be greater than 1 because then it would have a negative% confidence interval which cannot happen (Think if p>0.05 means at least 95% within confidence interval)
p=0.05 means theres 5% chance null hypothesis is true. p=1 means theres 100% chance null hypothesis is true. >1 means >100% chance which isnt possible.
p is a probability, so can't be greater than 1
@charcot_bouchard, that is not a good interpretation of p-value.
A better interpretation of p=0.05 would be: If in reality there is no increase in risk (RR=1), and if we replicated the same study of the same sample size many different times, then we would expect to find a risk ratio of (X) only about 5% of the time.
83 might seem an uncommon age, but we don't know for sure her sexual history. She only recently (8 months ago) started showing some signs of mild cognitive impairment. She has all these results implying that she has syphilis, so the most likely answer is that she has syphilis, so we should speak to her privately about her sexual history. The tests don't necessarily means she got syphilis very recently, it's possible she's had syphilis for a while and never got treated.
I understand that she could possibly have syphilis but I also put repeat tests because I know there are a few things that can cause false positive VRDLs but if she also has a + RPR does this make a FP less likely? And also if she has mild cognitive impairment you still discuss with her not her daughter correct ...?
This definitely could be a false positive, but before we want to consider it to be a false positive, we should talk to the patient about it privately. Assuming that it's a false positive before asking the patient about it could delay treatment of her syphilis. There's a chance she didn't want to disclose her sexual history in front of her daughter or maybe she was embarrassed or didn't think it was important to mention.
And you're absolutely right, she only has mild cognitive impairment, so we most definitely should talk to the patient alone without her daughter first.
She has dementia. She doesn't have the capacity to determine her own care (23/20 MME). I feel the daughter should have the word on the care since Grandma likely doesn't have the capacity to understand her actions.
From what I remember, dementia is typically a combination of impaired memory *and* impaired thought processes. There is nothing to indicate that the patient has impaired thought processes, and the memory impairment is only mild. The patient can still reasonably said to be competent, and so her private information should be discussed with her alone.
Elder care homes or elderly communities actually have a high rate of STDs. Turns out, when you put a bunch of divorced/widowed adults together in a community they have sex.
Additionally, you should respect the privacy of a competent adult with "Mild memory" impairment. I know I could have mild memory impairment considering the crap I forget studying for step 1
also.... I think we can assume that "repeated tests" means repeat VRDL, not "additional tests to rule out false positives"