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NBME 20 Answers

nbme20/Block 2/Question#25 (51.9 difficulty score)
A 14-year-old girl is brought to the ...
Mitochondrial tRNALeu🔍,📺
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 +16 
submitted by sympathetikey(1376),
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atunoiMts ni TM1-LT l(trMicoldinhaoy dencdeo ARtN ucileen 1)

A ocmnmo oiutmant is 4G23A3. aCn uslter ni uelpmtil orhmloaicntid efenicicides dan adscsiteao i.rdrsdseo tI si adsotseica whti:

  • incradooiMlht peyphnaothlcoaeym
  • tLiacc oscsdaii
  • kr-eitoelSk eisesdop ELASM)(

ELSAM is a earr onmliohcrtadi odrsidre nkown ot feafct nmay rpast fo eth by,od slelaeyipc the rsvnuoe tsmsey and eht nrb.ai Smpmsyot fo LEAMS cndei:ul

  • rreRcnute esreev cheshdeaa
  • suMcle esweaksn y)oap(tyhm
  • egiHrna slso
  • tre-koeSilk sdoeesip twih a olss fo usenccssn,sooi zseisue,r nda hotre semolrbp gafnctife the vseunor ms.esyt

cro:euS ih.T/1si/kLe.Ttwi/rtwpe/iM-io:dknpga

j44n  i just saw that every tissue that was affected had a high 02/aTP requirement and mixed with the lactic acid that meant she wasnt using her electron transport chain so i picked the only answer that had mitochondria in it +5  
topgunber  The disease is MELAS. Mitochondrial encoded tRNA leucine 1 is the mutation. Apparently associated with high tone deafness. It is apparent its mitochondrial with maternal transmission, though unfortunately the etiology is utter memorization / process of elimination. Maybe next time the stragy will focus more on mitochondiral diseases and see that this choice is the only mitochondiral answer choice. Mitochondrial Encephalomyopathy Lactic Acidosis Stroke like symptoms."MELAS is a rare mitochondrial disorder known to affect many parts of the body, especially the nervous system and the brain. Symptoms of MELAS include recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes with a loss of consciousness, seizures, and other problems affecting the nervous system.[5]" Source :Wiki +  



 +10 
submitted by mrmassador(10),
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I khnit teh ipnot of hte enosiutq is to cezgneori that htis si a ailmioortncdh aidsese hm(etro adn alrmnaet ndagrmrhteo ewre tecd.eaff) esuoPdrc weid ernag of s,fetefc utb cumles kesnwase dna omse clunroogei idstfeci osdot tuo to .me olAs it:hs nm.hed/-s/h/noot:Mocpns.hitLnnT/viggTr.#i1tgle

sympathetikey  Yes, but doesn't that mean maternal transmission? Men can have these diseases too, they just won't pass them on. +31  



 +5 
submitted by hayayah(1081),
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ihsT si a ronneitetsap of ontamliocihdr y.hoatmyp Thye nfeto eretpsn with yotmh,pay tclaci dsiscioa, nad SNC daeseis. 2° ot ieflura ni voexdiati hptylnoor.hipaso Meulsc posyib otfne howss gr“egda erd eir”b.fs

eTrhe si baearvil noexieprss ni a oupioanltp or enve twniih a laymfi ude ot lmaosheyrtep in dnatoilihocrm hntnraeie.ci




 +1 
submitted by thomas(2),
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t'sI a nidomaoltichr ei.s-ade s epenstr in escsevicus eitoesgnnr,a ayalsw with anertlma asisnt rmiso-n aamegd ot rhyeggh-nie stsuise - FCS iacctl daiosics (eud ot iesdranec oerbacnai mamlbeisto edu to iarmpedi doveaxiit la)osptyhinhopor




 +0 
submitted by topgunber(27),

The disease is MELAS. Mitochondrial encoded tRNA leucine 1 is the mutation. Apparently associated with high tone deafness. It is apparent its mitochondrial with maternal transmission, though unfortunately the etiology is utter memorization / process of elimination. Maybe next time the stragy will focus more on mitochondiral diseases and see that this choice is the only mitochondiral answer choice.

  • Mitochondrial Encephalomyopathy Lactic Acidosis Stroke like symptoms."MELAS is a rare mitochondrial disorder known to affect many parts of the body, especially the nervous system and the brain. Symptoms of MELAS include recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes with a loss of consciousness, seizures, and other problems affecting the nervous system.[5]" Source :Wiki