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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 nasaslyi ylno owehds a aotimutn ni noe le.lela FC si na toulsmaao veiserces ias:esed hte ieseads nloy sasnfmeit if herte aer iausotmnt ni both eaellsl of eth RTCF een.g

fI yuo sltli ahev 1 aonticflnu ocpy of teh CRFT enge, oyu nca lsitl amke eht FCTR orintpe eh(t edciolhr s,eerncn)rrlt/oantaph ceenh ryou obdy nwoโ€™t aevh yan sssu.ei

hTsi is lnauasogo ot tomru ossesrppru segne ilke bR: so gnlo sa eno fo het sllelae yuo vaeh si uncoifnl,ta oyu acn mkae hueong of het ptieonr ot maโ€œke โ€up for the efietecdv a.ellel fI bhot tge dckeonk uto )-,/(Rb- oyu sloe teh perittonco ervodipd yb het ngee eubaesc won oyu eamk on ntrpeio at l.la

heT ylon gthni atht meda seens orf hits nsoiqute was teh fact that eth toreh lleale wsa nto dlecuind ni the yssnaali.

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charcot_bouchard  RO oanerth laeell has a fidf pyte fo nmttiuoa aesuecb CF si eodn yb lkei dhsrednu fo dfif ytpe fo a.uiottnm OS the 70 ytspe taht we ecdrsnee rcveeod neo epyt mrof one enprta but tno eaotnrh thta was tdnihiree fmro rheot .aprnte +46
soph  I ptu D hignitkn ehetr saw a iontmaut ni rheotan enitrop taht rtstacine twih F.Tu.h.tRsC. u otnd evha FC tbu esom eisedas whti amlriis .pnopheyet Is sthi grnwo bc sit mlysip not eht aces ?? +14
nbmehelp  aboourhca@dcthc_r I tinhk that mksae orme essne if I etasdundrn wtha r'yuoe -sngaiy Pboybalr hda a motntiua ynlo in 1 fo 2 fo the aesm eelalls in the synsaail ubt dha atnhreo maonuitt in 2 of 2 llseeal at a effridetn actnloio nto iuelndcd ni the ,siasnaly ?gihrt +
fallot4logy  FC is a rrea sedieas , nda the yibpsltsioi to veah a aemutdt eegn pslu a egne taht sti ont lebnog to 07 somt mocnmo cf notutisma is eteyexlrm rear +5
gubernaculum  @oshp i epdcik D oot tbu own ogloink a,kcb het lpnae dha 07 of the mots nomocm TFCR nege notsautim os it is nkluyiel taht ythe idt'dn dareyal khcec a egne hatt sedoc ofr a tpoerin htat rtnisecta hitw RCFT? hast't the only yaw i nac nzaiietaorl .ti sit abd tinrwig mlutyailte +
peridot  I soal ecdkpi D, tub rehet are reov 7001 nidetreff iutatsonm orf FC and sit' too ahrd ot test ofr tehm lla - teh lanpe in the tniuqseo edtets rfo hte 07 omts nmoo.cm sA osthre nitdo,neme FC si an louotaams rvecsesie sdes,eia os erthe utms be roaehnt eaumttd elalel reeh ofr teh lchdi to ptnseer wtih eth .seeadis t'Is omer lieyl,k and I nigaime ont non,commu thta the aintmuto si ont ni the alp.ne As rfo ,D I pusspoe eth tbes nnoergsia I cna meoc up for ti si hatt hnngtoi ilke ahtt istexs - thwa ritneop taecsrtin whti NEO eudattm CFTR aelell ni ahtt it lerstsu in the aesm opnheptye sa ,CF a ddorrise htat eqrreisu OTW mateudt see?lall I vahe ernve aherd of uhcs a hti,gn heeswra I aevh eiedltnyif ehadr fo A ibgen eth ase.c +2
weirdmed51  optrei@d โ€˜ โ€™B, bgein eht saceu oyu amne +



 +8  upvote downvote
submitted by โˆ—eli_medina9(22)
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LCIELLA NYEIEHOETEGTR A(F peag 57 2)091

Trehes ellmitup llelea rsnvaita rof teh TCRF eegn ni a igenls sclo,u so oyu duloc teg ciytcs riofissb mfro a ttimunoa in yna eno fo hteso lalele ernhtrasas(tvie evor 0105 dentrfief tmnsotiau erdecbi)sd teh qeuoinst smte tndoemnei tyhe eedstt rfo het omst mmoonc pyste, os ew nac sesmua ehyt ryoblpab tjsu emsdis sintgte for snimttuao in oerht esle.all

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melanoma  in etorh ,le?elasl ew oyln aevh wot slaeell epr eneg +
qiss  meoamnal@ "rehto "aelslle sa ni the asme leaell hiwt a eeiftdnrf pyte fo oantt.uim ekiL emlniad_9ei oedi,nmetn FC ylpsim nac be useadc yb othsadsnu fo riefftedn muistanot fo eth TRFC een.g hTsi baby glir has tow elaesll, noe of ethm whit a uioatnmt ufond ni the nsyaiasl dna het ohret lleale iwht a iutnamot taht nas'wt ttdeedec mgtanos the tsmo ommnoc umnttaoi.s +



 +1  upvote downvote
submitted by โˆ—bharatpillai(40)
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RTI is urmesaed in nurteoi hik-eprlec ooldb aknte for ehmaiccboil egnnceris fo all newronb inatfns obrn in eht U.K sihT sett si neo fo a eurmnb fo tocdelemp ni onwrben nnrsgceei the( e"tGiurh e.)Tt"s nI iuaatrAls it si kwonn %49 of tohse thiw eualtnve isnigaods fo CF ehav a iopevist ITR on rbwnoen cresen. eSlmsap iwht a saeird IRT nefdeid( sa thgihes 1% of uasv)el era hten dneseecr rfo cmonom CF egen tmuo.tnisa achE ctenre hsa a siyhgtll enfitdefr neeg ae;nlp yurreltcn 0-045 fo eht ostm nomocm gnese era nuedq.scee oH,revew hteer aer ermo tnah 0200 onwkn timsutn,ao os ngee lenap iettsng deso sims olsaincaoc FC neittspa

If gnee itgsent sifnd eno tnoamtui yteh will etnh vahe a wates estt ot lhep mforcni teh sgiao.dsin eatSw sntiegt si more llyeki ot be ivaoeluqc ni saniftn nda palycylit otn ttateedmp ni othes uenrd k5g. If aewts etts si eiivspot ermo enpxvisae eeng tsengit si enrco.seddi fI wot oumntiast ear nfudo they rae eigndosda htiw F.C

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bharatpillai  i easwr to odg eosm aassht owh rteow isth nqietosu imitedamyle oedollwf it pu yb nkagim a pawkiiide spot botau it to entderp like iths is smoe mmoonc owegendkl cdliema tetnsdsu weer ospupsed ot h.eva +1
utap2001  re!aGt fAret riednga yrou lnoxanti,aep I aetenllvuy erdsutadnn het nmaneig of shti ensitu.qo +



 +1  upvote downvote
submitted by โˆ—unknown001(9)
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LPS.EIM 3 ps.ste

  1. ew nkwo siht lrgi has icytsc bissoifr .

  2. ubt gtsntei hwoss nylo 1 laeell is dautm.te

  3. secin hse sha CF, the oethr eellla NTNACO eb laromn , dna eht noyl eonxalpiant to reh gnhvia CF is the laenp dtdin ectdte it.

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 +0  upvote downvote
submitted by โˆ—sweetmed(157)
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oyu eedn a aunitotm ni 2 sleelal ot gte FC nceis[ ti is altmsuooa reciv]ee/ss

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 +0  upvote downvote
submitted by โˆ—an_improved_me(91)
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eArhtno g...hitn 'sInt ti lpiesbos htta hotb the wtsae oreidlhc estt nad teh vaerietmnimocu nriypts rae juts fasle ?+ Bhot fo eetsh setst have trteyp wol dslethohr ofr nrrgiutne as a + rone.seps hWy 'tanc it eb psbolsei ttah neo alelcli tmitnuao is guehon ot esuac a isotpvie lusetr ni eetsh ,stste thwutoi clyalaut niiggyfins hte pt has a sed?aies yM ylon ugess si taht enisc wot wnarses dnteciai taht three locdu eb a slaef ioitp,sve tireneh nca eb teh hgrit r.eawns

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