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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 ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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 +12  upvote downvote
submitted by โˆ—colonelred_(124)
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ehT saisaynl lony hsdwoe a nauoimtt ni eon alel.el CF is na lsamtaoou seeicvsre esi:saed the sdaisee oyln nesifstma if ehrte rae asttoiumn in boht aeeslll fo eth CTRF geen.

If oyu ltsli vahe 1 lnicaoftnu opcy fo teh RTCF ,eeng oyu nac itlsl emka eth CFTR petnori et(h colhride nrnece/,atholasr)rtnp ehnec royu obdy โ€™otnw vhae nay si.seus

ihTs si nouaoslga to uomtr pesosrupsr seeng ilek bR: os gnol as neo fo the sleella uoy ahev is nnoftlac,ui oyu acn kema oneghu of eht itrnpeo ot โ€œakme puโ€ ofr eht ceefditev el.lela If tohb get ndeokkc tuo ,/--)bR( uyo leso eth cntitpoore ioveddrp by eth nege bueasec onw uoy kmae on tpireon at ll.a

hTe oyln inght htat emda essne ofr itsh nuiotqes swa eht tfca tath hte ehort laeell swa tno dnlucdie in het ynl.ssaai

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charcot_bouchard  RO thenrao llaele ahs a fifd pyte of inaumott eeuabcs FC is nedo yb ikle ndsreudh fo ffdi ptye fo ito.atunm OS het 70 sypet htta ew eenscder verdoec eno epyt rmof oen enrtpa but tno ahernto ttah was neetdrhii from rteho er.ptna +46
soph  I upt D tnihgkin ereht aws a tnitumoa in ethrano ipnoert ttha tcnraiets wthi TR.C..hutFs. u ndto heav CF tbu semo eisdeas hitw amriisl ph.eynteop sI siht nrwog bc sti symilp ont the asce ?? +14
nbmehelp  arc@ochc_rtduobha I tnkhi atht mseka rome eesns fi I eddunsntar hwat 'eyoru n-isagy ybboParl dha a oatnmiut ynol in 1 of 2 of eht emsa leasell in eht lnyasasi tbu adh orhanet nmtiuaot in 2 of 2 lllseae ta a efeitrnfd oocalitn nto ulddceni ni hte snlaiays, higrt? +
fallot4logy  CF si a arre sidesae , dan eth ilsipibytso ot have a tedamtu gene puls a enge htta ist otn gnloeb ot 07 tmos ocmmon fc utmtsoina si xlemtreey earr +5
gubernaculum  @pohs i pkedci D oto tub wno ngioolk ckb,a teh elapn hda 07 of eth toms cnoomm FTCR geen autsmnoit os ti is ylelukin taht teyh 'idtdn aedayrl cechk a egne taht doces ofr a tnoriep ahtt iarstnect itwh RFTC? 'tahts het lyon awy i acn zialenitora .it sit bad irtignw auiytltmel +
peridot  I lsoa ekpdic ,D ubt ehrte aer eovr 7100 edfrfinte toiatnums ofr FC nad 'tis oto hdra ot test rfo hetm lal - eth lpnea ni the setquion tdeste fro the 70 mots cmonm.o sA trohse n,ietmdneo CF is na astomoual eevsiercs siee,das os ehetr ustm be teronah uamtedt laleel hree rfo the dlihc to tpesren whti teh i.eseasd tsI' remo e,kylil adn I iageimn tno nomumocn, that the ontuimat is tno in teh nlaep. As fro D, I upspeos eht esbt oisnngaer I cna emoc pu fro ti si ahtt ngoniht elik hatt seistx - what rotpine incrsteta iwth NOE tdmueta TRCF ellael in taht ti sertusl in het easm nhpyeeotp sa ,FC a ddsireor atth rqisueer TWO uttdame le?llaes I have rneev hrdae of shuc a ,gitnh eswarhe I vhea yftileendi aehrd fo A ngbei teh sace. +2
weirdmed51  pit@deor , Bโ€˜โ€™ ibneg the eucas ouy anem +


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 +8  upvote downvote
submitted by โˆ—eli_medina9(22)
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ALLLIEC GEETIEENTROHY A(F gpea 75 1)092

eTresh puieltlm lleale avnirats rfo het FRCT gnee in a gnelsi uoslc, os uoy dculo teg ysicct fisbsroi ormf a aoiumntt ni nya one of hoest elllae isehatnestr(rva erov 5100 ireffdnte tuoinastm dbsei)edcr het iotuneqs semt nmtiedone they steetd fro teh stmo mmocno t,esyp so ew cna mesasu yeth brybopal just iesmsd gntstie ofr tusomtina in htero ea.lllse

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melanoma  ni rheot ellelsa,? ew onyl ehav tow ellslae per eeng +
qiss  @lemnaoma ohert" el"sllae as ni het saem alllee iwth a ifeentfrd tpye of u.attinmo Liek deailm_ne9i eeontdmin, FC liymsp can eb ausecd by otashusnd fo ndrfifeet tsoinatmu of the CRTF .eegn ihTs bayb lgir ahs wot elleasl, one of emht tihw a nmttuaoi dfuno in eth issyaanl dna eht rhoet alllee iwht a tonautim ttha nstwa' ddteecet gmostan eth msto nocmom nau.simtot +


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 +1  upvote downvote
submitted by โˆ—bharatpillai(40)
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RTI is euasermd in tenoiru cpilrkee-h boold teakn orf eoihlcbmcia esiecnngr fo all nonewrb intasnf ornb in hte KU. hTis tste si oen of a rmubne of dpelotmec in wenbonr scnigreen te(h Guiert"h ste)."T nI Aarsitaul it si onwnk 49% fo hetos wiht aunetelv sanoidsgi of CF ehav a stoviipe IRT no neowrbn resn.ce eampsSl with a eadris ITR eeidfd(n as hhsegti 1% fo v)easlu rea enht neersced rof mcmnoo CF gnee nmiuottsa. Each nrecte ash a thglsyli ieftndrfe eneg ;nlaep rulytencr 005-4 fo eth omst ommonc neegs aer eeecdq.snu oeHe,rvw three rae omer ntha 0200 wonnk sanim,otut so gene elnap gittsne oeds issm naocoacils FC sneiptat

fI egen gstniet infsd one inottuma yeht wlil hnet eahv a sawte tset ot ehlp morcnfi eth iniasd.sgo awSet etgisnt is remo ylilke to eb qiavoluec in nsftian dan ylcpilyat ont tdtteempa in hstoe ruend .g5k fI satwe etst is sivpeito oerm eenisaxpv eneg gisnett is eorc.sdnedi fI tow ttminoasu ear nuodf tyhe rae dsgdoenai iwth .FC

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bharatpillai  i rwase ot odg smeo satsah who owret hsti nseoqiut tmediaeyiml leloofwd ti pu by nikmag a idkpewiai ptso tauob it to etpednr like shit si mseo conmmo wedolnegk eicmdal settnuds rwee esopdsup to v.ahe +1
utap2001  !tarGe terfA irengad ryuo ninpxaa,leto I aultlyveen unradtdesn eht inmngae of ihst itnqe.uos +


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 +1  upvote downvote
submitted by โˆ—unknown001(9)
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.SPMIEL 3 .sptes

  1. we know this girl ahs yccits bossifir .

  2. tub ttsigne shosw noyl 1 elllae is udat.emt

  3. sneic hes ahs ,FC the hroet allele NCNTAO eb nolarm , nad the yonl aneilatpoxn to erh vgahni CF is hte nplae iddtn cdtete ti.

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 +0  upvote downvote
submitted by โˆ—sweetmed(157)
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yuo ende a outmtnia in 2 leaesll to tge CF nic[es ti si ualtoomas eie/escrv]s

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 +0  upvote downvote
submitted by โˆ—an_improved_me(91)
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oenhAtr h.n.igt. stIn' ti spleobsi htat htob hte satwe lhcdreio etts nad het taomenicevuirm rstpiyn rea tsju lfeas ?+ tohB of ehets sstte eahv tetyrp lwo oltrhesdh rof itnrernug sa a + ore.pnsse Why na'ct it be bsolispe ttah eno lacllie tinmuoat is ghneuo to uaesc a ieivotps rltesu ni hetes st,set twhiout cultyala fgysniigni het pt sah a s?deisea My ylno ugess si htat iecns wot aewrnss idtainec that erthe ducol be a eflas vpioe,its ienhert can be teh igrht ewsan.r

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