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submitted by ashmash(3),
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hWy ta’nc we ssaeum ttah eth inaettp twih an eeaveldt idrtce riuniilbb eosd otn heva esom srot of osotctubnir ehwer hte kianlela aopaepshsth uldow be eeevtald ro( vene bidnu oosnhnj )roe?dmnsy I ’dindt hnkti fo tiGrbel iessaed ediespt eht mnittirtntee ucores ascueeb I dtne to kolo at icrtde and tlato nibiubrli evslle trfis ot ees if eth redict buibiirnl si eldeaetv cwhih in hits csea swa vtee.adel

benwhite_dotcom  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. +8  
morelife  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”? +  
benwhite_dotcom  @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. +2  
wowo  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 +1  
kindcomet  @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. +1  

submitted by xxabi(257),
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NE is dretecnvo ot PEI vai TM,PN hiwch is udecind by tlioscor.

wowo  FA2019 p83 +3  

submitted by lsmarshall(415),
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raUe yecCl Dosrdrsei &;tg Idsaelto esever enyiermhpmoaam g&t;( 0;100 i.e,. no rteho eerves meatciblo strabdiucnes

thirOenni rscrnaltsamyeaba dyceieifnc t;&g otms( onmomc aure yeclc d)is. cotori eimacaddi/rciiaua, rpeeamhyomniam

rcOnagi csidameAi &tg; am,rempmiaHoyne nig-panoa ssiaic,od kiosste fmor( lyhag)iemyopc

muidnhMie-ca -lcayAoC sgdeeaydohenr ceiidneyfc tg&; mameHpr,ioamyne koohyceitpt melhyiapoycg (sene ni βoixtan-odi sdor,sredi PEEXCT oalnroyrdsdeykt)epouh

irLve nyfiotsudnc gt&; rmiHnymeemo,aap LTFs emedss p,u lerdo pt.

lsmarshall  Summary of metabolic issues relating to hyperammonemia +7  
seagull  i'm leaning towards Ornithine transcarbamylase deficiency. +3  
notadoctor  Not sure why this isn't considered a mitochondrial disorder since the issue is Ornithine transcarbamylase deficiency in the mitochondria? +2  
charcot_bouchard  if it was mitochondrial disorder no one would escape +3  
wowo  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 +2  
artist90  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 +4  
artist90  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? +  
yb_26  1) hyperammonemia is seen in all urea cycle disorders except arginase deficiency 2) organic acids directly inhibit urea cycle => hyperammonemia (from UWorld) +1  
yex  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. +11  

submitted by neonem(568),
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yM steb sugse is that sthi tneatpi sha a isupdibc tarico veval and has a rurumm edu to diaenscre oeuvml oaldorve rofm eht negcyn.pra

charcot_bouchard  Can be congenital mild Tricuspid stenosis also. it also exaggerate during preg +  
wowo  probably just a flow murmur, +5  
noplanb  Wouldn't Tricuspid stenosis be a systolic murmur? +  
noplanb  I mean diastolic* +1  
centeno  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) +  

submitted by ameanolacid(26),
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Ct'unold be LAS b/c eh adh eosrysn lnom.vSineeL..vAt si dyscilnitt yonl oNt oSnyeiyramgil cwhh(i is ruppe itsietrxmee noryses thne ortom trlae )no cb I esmadus yb eth gnrdoiw ttah lal 4 trtsiixeeme weer ondv.vlei vOb otn sPriksnoan, and otn pooil cb gan,ia he hsa oomrt + seynos.r

sympathetikey  Probably in part due to early age presentation, but I hear you +5  
wowo  FA2019 p518 - process of elim for other spinal cord lesions +2  
cbreland  Also syringomyelia wouldn't have a position sense issue +  

submitted by brethren_md(90),
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mtoru fo iPnael adGnl ian(aPemo)l sceuas aduiarnP ndeSyrmo ctal(eriv egaz a)pyls

neonem  Due to compression of the superior colliculus in the tectum, I believe +8  
wowo  FA2019 p516 +4  
misterdoctor69  FA2020 p528 +1  
qiss  tectum as in the superior colliculus +  

submitted by medskool123(29),
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nca neosmeo pnlexai hyw stih is ton sacitudnnt?or Ltsa menb I said ajonncioutg and got it gronw rfo .trnt.osaidcun shit eno I sya coundtstinra dan tsi j.iannuoogtc

pseudorosette  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! +4  
medpsychosis  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. +16  
wowo  FA2019 p130 +1  
zbird  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) +  

submitted by yotsubato(1019),
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yWh is teh epaintt nto ni niap. I lwudont etxpec Iercernctdaa ianerh to etenprs whti ozer pna,i ubt 1 keew of isiptaontnoc dan iwng.lesl

yotsubato  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? +2  
medschul  I thought that inguinal hernias were reducible? +  
fahmed14  could be a femoral hernia as they are more likely to cause incarceration. They do, however, present more often in females. (FA 2019- 364) +1  
wowo  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" +6  

submitted by neonem(568),
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hte byod dsposren ot dbloo lsso by smeiopehiast.o Tihs ourscc by eulgnriptgau naniretfrsr n(a roni pestrarotrn in hte obl,od) ntyeiepootrrih oitodnrcpu (a oenmohr mead lxlvyueesic in eht nlear bluiertupar itarttlseini csl),le adn mhee stnehsis.y sitFr teps fo eehm ssteinysh aws llyacatu uddlale to ni onterah nsiqtoue no siht t:ste dtnnciaoneso of yeigncl dna uysncilc ACo oitn tteullnma.idoealn-ieav sTih si et-altiingimr etps fo eemh

wowo  FA2019 p417 +2  

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anC snoomee ipaxlne wyh the arwsen tdu’ncol be ?nyeaapneinhll

donutsnduodenums  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. +18  
zelderonmorningstar  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. +15  
wowo  FA2019 p83 +  
nbme4unme  Just a note that UWorld says phenylketonuria patients ALSO have albinism, it's just that the neuro sx and musty order are giveaways. +3  
pathogen7  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. +2  
cmun777  @pathogen7 you're not wrong it is specifically DOPA but would any of the other answer choices make any sense over tyrosine? +4  
qiss  @pathogen7 also yes- you can't make DOPA because of a defective tyrosinase enzyme. This enzyme also metabolizes tyrosine into DOPA before it metabolizes DOPA +  
qiss  link fixed hopefully +1  

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hSe has isoOeenstseg Iefpte.rmca aAk itlert“B eoBn D”z aak nClaoleg eypT I cfy.iceedin U edne laclogne eypt I ot ekam rcass ngtao(lnirau isestu is eytp III dna nhet eeoplarsotatmsel nda czin cfsaocrto ephl deigst tnio hte rmfi ypte I gal)cenol.

wowo  FA 2019 p51 +  

submitted by stapes2big(12),
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’Im not reus botua iths oen tbu eht ywa I thotghu btauo it wsa hatt nisce hte ficconened elniavtr cnuelddi 1, ti saw tno isnifaticng. Adn hust p luaev tmus eb oabev .500

tea-cats-biscuits  That makes sense! +  
asapdoc  Had the same reasoning +21  
jkan  I get that it's not significant, but why is it 0.05<p<1 and not p>1.0 +10  
jkan  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) +9  
charcot_bouchard  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. +13  
wowo  p is a probability, so can't be greater than 1 +9  
noname  @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. +2  

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Can ndoabyy ilpeanx stih e?no I tpu rteaedep sttes eauecbs I mssuead na rd8-3lo-eya monaw si an aunsuul paigehdcmor rof ssyphili.

m-ice  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. +5  
mousie  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 ...? +4  
m-ice  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. +4  
seagull  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. +5  
sajaqua1  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. +12  
yotsubato  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. +11  
yotsubato  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 +13  
drdoom  @seagull dementia ≠ absence of competence -- the two are separate concepts and have to be evaluated independently. see and +3  
wowo  also important to note, d) repeated tests is also incorrect as the microhemagglutination assay is a confirmatory treponemal test (along the same lines as FTA-ABS) +5  
sunshinesweetheart  also.... I think we can assume that "repeated tests" means repeat VRDL, not "additional tests to rule out false positives" +2  
imtiredofstudying  the entire point of this question is that when you see an STD in an unexpected demographic (children, elderly), THINK SEXUAL ABUSE +