NBME 24 The patient has another mutation that was not included in the previous analysis (NBME Answers)

Retired NBME 24 Answers

nbme24/Block 2/Question#42 (reveal difficulty score)
A 3-week-old female newborn is brought to the ...
The patient has another mutation that was not included in the previous analysis 🔍 / 📺 / 🌳 / 📖
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+12 upvote downvote
submitted by ∗colonelred_(124)

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Teh sainlays yonl deswoh a utamitno ni noe ael.ell CF is na atuamsolo serevcies i:essead hte aiedsse lyon neafsimst fi ehetr rae ustiatmno in bhto elaslle fo the RTCF e.egn

fI you tllsi ahev 1 uofnailctn ocpy fo hte CTFR egn,e ouy nca ilslt aekm teh FCTR ptneoir th(e odricelh hparn/,cenrar)seoltnt hceen uyro ydob n’two aehv any ei.sssu

siTh si soagalonu ot outmr posepssurr nsege elik Rb: so nolg sa noe fo teh esaelll ouy haev si o,ftauilnnc uyo nac amke houegn of eth reitopn ot kma“e up” rfo eth cetedvefi lela.el If otbh teg okndcke otu ,Rb()--/ ouy lseo eth ttiocrnpeo pedovdri yb eht enge eceuabs nwo ouy emak no piortne at .lla

eTh yonl ngiht taht adme nsese for hits sioquten wsa teh fcta ttha hte treoh leeall wsa nto uciedlnd ni het naylssi.a

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charcot_bouchard RO thearon lleael has a ifdf tepy fo ntiomatu cebsaeu FC si eond yb iekl drdenhsu fo diff tepy of titanm.ou OS eth 07 ystpe atht ew edesecrn doeevcr noe yetp from one rnpeta tub tno ernohat atht asw rhditiene rofm eohtr nter.ap +46

soph I utp D hinntkgi rethe saw a mainotut in nheaotr noieptr atth nattrisec thwi Cs.u...hFTRt u tdon vhea CF but semo desesia twih lsaiirm nyeho.tepp Is thsi ognwr bc sit siplmy ton the esca ?? +14

nbmehelp hboua@_dacrrcohtc I hintk atth akmes orem eessn if I rndnuatsde athw r'uyeo i-ygsan lbryabPo had a otutinma ylon in 1 of 2 of the meas lllesae in the sylisnaa ubt had ntearoh atntomiu in 2 fo 2 sleella at a ienfefdtr oacloitn not cludeind ni het ayls,inas t?ghir +

fallot4logy CF is a raer sidesae , nad eth ibipitylsos ot ahev a edamutt geen lups a gene htta sit tno gnlobe to 70 toms nommco fc itsomutna is rxemteyle raer +5

gubernaculum @hsop i dkecpi D oot but now noiogkl bcka, hte leanp had 07 fo eth mtos mcmoon RFTC eegn mntoutsai so it is ekliunly tath ethy dn'dit deaayrl kchec a enge taht ceods orf a trpoien thta stniterca twih C?RFT shtt'a the only awy i anc zlniatreiao it. tis adb wignitr lyeilmtuat +

peridot I olsa dickep D, utb ehert are orve 7010 eftdnrfie tuostiamn fro FC and 'sti oto dahr to stet ofr hemt lal - teh alpne ni teh stiqunoe tdstee rfo eht 07 tmso omnm.co sA esorth et,edonimn CF is an auaotolsm eseevscir ,dsseeia so eetrh must be antrheo atdetmu laelel hree orf eth cildh ot etrsenp itwh hte eaied.ss s'tI reom ikyle,l adn I inmeaig ont o,oncnmum atth hte nmoutati is nto ni eth aepnl. sA orf ,D I ssupoep het tbes agrinsnoe I can ecom up rof ti si ahtt thnogin lkei ttah stxeis - twha treipno acteirnts htiw NOE etuatmd RTFC eleall in atht ti sstuerl ni the msae eopehpynt as CF, a esddrori atht rseiqure OTW teumtda lse?ella I vaeh ernev arhde of usch a n,tigh eashwer I ahve nieyfledti ahedr of A ignbe teh asec. +2

weirdmed51 irtd@ope ,B‘ ’ niebg hte asuce you eman +

+8 upvote downvote
submitted by ∗eli_medina9(22)

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EACLILL RHTEYOIETGEEN (AF page 75 921)0

sTeehr petumill elllea arvstian ofr eth RCFT eneg ni a nisleg clu,os os you ucdlo teg cictys ssibrfoi rmfo a nomiatut in yna oen fo soeth lealle easrsntev(htria rveo 0501 nredfifet motanusit cdsedirb)e teh eosqitun esmt denteniom thye tesedt fro eht tosm noocmm teys,p so we anc eumass hyet blpaobry ustj seidms ntesitg for stntaumoi ni teorh slla.ele

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peqmd wFp-cffr/g//Ttsth/i-RoWft:C/t-TssM..-toweswapeyoGn/hueinsaFic-Ct +

melanoma ni ertoh eael?l,ls we nyol haev wto sleleal per nege +

qiss oealmma@n ohtre" "llelsae sa ni teh smae lallee ihwt a enrdffeit type of ntmiuta.o eLki eedn9a_mili dtmie,neon FC pymlis acn eb casdeu yb stsudanoh of tdenireff imusttnao fo eth RFCT eg.en Tihs baby glri ash wto la,lseel noe fo mhet itwh a tnoauimt fdnou in eth iyslasna dan het oerth leelal hwti a niomtatu taht stnw'a edettdec otnmsag eht mtos mmnoco outmastn.i +

+1 upvote downvote
submitted by ∗bharatpillai(40)

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RTI si umseaedr in irtouen hel-ckrpie blodo tnkae ofr cmlboaciihe nceerigns of all nnwbroe sitannf orbn ni the KU. shiT tste is noe fo a mernub fo loetcpmed ni enorwnb isreegnnc (hte rh"eiuGt ")tT.se In Aiuasaltr it is wonkn 49% of sothe hwit eaneultv dsngisioa of FC heav a ptvoisie TIR no nbowner cernes. esSplam whti a isaerd TRI (eedfidn as higesth %1 of levus)a ear neth censdree for mcomno CF geen ti.tmnosua Echa ntecre hsa a sligyhlt rffdnetei eneg ap;len ncrryluet -4500 of eht tosm oocnmm nesge are uqnsde.eec w,Heervo terhe aer roem hnta 0002 kownn iamttous,n so neeg alpen instetg dsoe ssim sccnaioola FC tepinast

If gnee tengsti fdnsi eon outtaimn heyt lilw hent eahv a asewt tste ot help onfimrc the s.asiginod Swaet nttseig is omre eilykl ot be ucqlioeva in stniafn dna yllyiactp nto tedtatepm ni tehso enrdu k5g. If awtes tset is vsoepiit eomr nipsvexae eneg nsttgei si .ddrcisonee If tow onmtusait rea fondu ythe rea aeiondsgd hwti .FC

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bharatpillai i aresw ot ogd osem tahssa who eowtr sith suntioeq mtaemediyil oolefwld it up by iankgm a kepiiiwad tops obatu it ot tpnedre keli sthi si osme ocmmon egldwkeon ldeicam nsteduts wree spusedop ot hva.e +1

utap2001 re!Gta etrAf neidgra yoru oxnaneatli,p I neulyvleta ddutesrann hte inmeang fo hits ouqi.etsn +

+1 upvote downvote
submitted by ∗unknown001(9)

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LSMP.IE 3 .psste

ew onkw itsh girl sha cticys ioibrfss .
utb tiengst swosh ylno 1 aleell si uea.dttm
necsi she hsa ,CF the thoer elleal NOCNTA be aolrnm , dna eht lnoy iponaxletna ot erh hnagvi CF is hte peanl dnitd tedcte i.t

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+0 upvote downvote
submitted by ∗sweetmed(157)

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uoy ened a notmatui in 2 llaeesl to etg FC i[cnse it si malauosto c/eervs]sei

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+0 upvote downvote
submitted by ∗an_improved_me(91)

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nhteoAr .i.gnth. n'stI it osbeipsl that bhot eht aetws ehliodrc stte nad eht mtreuvminciaoe tsrynpi rea juts lesaf ?+ ohtB of ethse sstet eahv pytert lwo eshdohrlt rof rinrtneug sa a + rsepose.n Why 'catn ti eb slbseopi ahtt noe lalilce umtinato si gunoeh ot ucsea a eitivsop lesrtu in eshet ste,st wtuhito tlclayau iginfnsigy teh tp has a sdsi?eea My yonl uessg si ttha sicne owt wrassne tiaenidc tath rehet cdlou eb a slafe tveis,pio ehniret anc be the grhit asn.erw

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