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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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heT slnaiasy noyl wdoseh a ainumtot ni neo le.alel FC is an solutomaa eisvrcsee ed:sieas het daessie noyl ntameissf if reeht aer iuomttsna in boht alsllee fo eht FTCR e.neg

If uyo tslil ehav 1 lntnfiaocu pyco of het CFTR eg,en yuo anc lilts kema hte RFCT inrtpeo h(et lheoircd /)aratnnetsr,pcorelhn ecenh yuor odby โ€™ntwo vahe nya use.ssi

Tihs is ougoansal to uortm sropssreup genes klei Rb: os lgno as neo fo the llsaeel ouy ehva si outialnfcn, uoy nca eakm onuehg of het irnoetp to makโ€œe โ€up ofr eht dictefvee llae.le If otbh egt kendcok tou R-,)/-b( yuo sole hte etiortcpno deivropd yb eht eeng aesucbe wno oyu ekam on pneoirt at lal.

eTh lyno ginth that emda nssee ofr tshi tuioqsen saw het tcaf hatt hte hoert eallle aws ton udenilcd in het sylnsaai.

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charcot_bouchard  RO oahnetr elalle ash a iffd ypte of omnatuit ucasbee FC is oden yb ielk uedsdnhr of dfif tyep of m.nittuao SO eth 07 pyets atth we erecsdne edevroc oen peyt rofm eon reaptn btu nto rhaoent ttah asw eitneidhr rfom oreht npa.etr +46
soph  I upt D tnhkinig hrete swa a otatuinm in tnaohre irntope thta enttsiacr twhi FuhtCRT....s u ndot aevh CF ubt seom aeseids hiwt lirmias .opehtypen Is siht ngorw cb its slmiyp otn hte easc ?? +14
nbmehelp  hcbuto_aa@crdohcr I khnit atht semka mero eessn fi I duanenrtds htaw e'ruyo -yagsni aorbbyPl dha a auomtnti onyl in 1 fo 2 fo hte meas aeeslll in eth yaisalsn utb ahd thorena tmtoiuna in 2 of 2 slellea at a ientefrfd ainootcl otn ddilcnue in eht aanl,issy rght?i +
fallot4logy  CF si a erra edaseis , dna eht obiysitispl to ahev a utmdtae ngee lpsu a egne ttha sti ton noeblg ot 07 smto cmoomn fc tauisomnt is ertlxemye rear +5
gubernaculum  @spho i kecpid D oto utb nwo oklongi cbak, eht plaen dah 07 fo eht stmo cnommo CFTR gnee totsunmia so it is neyiulkl htta tehy 'ddnit arylade ehckc a eneg htta eodsc for a neitopr htat tcenisart thiw RFC?T ts'tah the lnoy yaw i acn oiliaateznr .it sit bad nriitwg ltumeiyatl +
peridot  I oals dkicpe ,D ubt teher era evro 0071 intdfefer nusitomat ofr CF dan tis' oto radh to ttes rof hetm all - het anlpe ni het otqiesnu dsteet rof eht 07 toms nmmo.co As heorts nid,emeont CF si na lauatsoom eseesrvic s,adseie os ereht usmt be rethona mtudeta lealle rhee rof eth idhlc ot senptre tiwh teh e.isdsae 'sIt orme ,keliyl and I ngiamei nto oonmcmnu, atth teh atmintou si nto ni hte .nlpae sA rof ,D I ppssueo eth ebts gensirnoa I can coem pu rfo ti si ttha inntgoh ekil ahtt xtsise - thaw teoprni trasnietc tiwh EON atdetmu RFTC llaele ni taht ti erutlss ni eth same epoeynpht sa ,FC a ddierrso ttha srreequi WTO dtatume s?lellea I heva vnere ehard of uhcs a thgni, sehwrea I aveh teeidniyfl dehar of A einbg eth sa.ce +2
weirdmed51  @ertopid โ€™โ€˜,B gnebi eth uacse uyo mnae +



 +8  upvote downvote
submitted by โˆ—eli_medina9(22)
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ELLACIL EEHTGITREEOYN F(A peag 75 091)2

rsehTe liputeml lellea atirvsan fro hte TFRC eeng in a enlgsi scuo,l so ouy ulocd tge syccti irfisosb mrfo a titonuma in nay one of soeht aellel t(nerirahasstve over 0501 ifnfetrde tiaoumsnt deri)sbecd eth qtoneuis smet netmdneoi yhet tdsete rof hte mots momcon ,tysep so ew acn sasmue thye yolbprab sutj esidms ttseign for aosnmtuti in reoht el.selal

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melanoma  in ohret el,llse?a we nlyo ehva otw esalell rep gene +
qiss  aeolm@anm "reoht sllae"el sa ni eht mesa leleal whit a etdnfierf pety of auotmti.n kiLe a_e9ildinem endmoe,tin FC mspily anc be auecds yb sundastho of tfnierdfe nomiutsat fo eth CRFT een.g Tsih yabb lrgi sha otw llele,sa neo fo tehm hiwt a imnauott udnof ni teh yalasnis and hte rehto elella ithw a tuminaot that wn'tas cdetedte mntgsao het smto commno osmatntiu. +



 +1  upvote downvote
submitted by โˆ—bharatpillai(40)
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TIR is smraedeu ni noirtue elkhrpci-e odobl atekn ofr aeccbioilmh esrginnce of lla rbnoenw ftsnain ornb in the UK. siTh etst si oen fo a benrum of doltpceem ni rnbewno eicnengsr t(he "ruGieth sTt.)"e In urtsiaAla it si onwkn 9%4 of etosh ihtw lvtuenea ogdsiinas fo FC avhe a oeisvpti TRI on nwobern er.secn laeSmps whit a sdeiar IRT en(fdide sa htisegh 1% of aesv)lu rae nhte eedesrcn for ommonc CF eneg umo.taitsn ahEc nrtcee sah a lsyitlhg eirfftden eegn pnel;a teluynrcr 5-040 of het mtos omcmon enseg are c.qnuesede wvoe,eHr hrtee are remo than 0200 wnokn ottni,amsu so eegn aenpl eisnttg edso ssim sinoloaacc FC itanetsp

fI ngee eigntts dinsf neo tuoantim htye llwi hent aveh a stwea ttes to phel mconfir teh .isagdnois aStew getinst si meor klyile ot eb eauvlcqio in anitsnf dan ylpliatcy tno edptmttae ni thsoe under 5gk. fI wstae tets is esioivpt rmoe aieepxvns eeng intetgs si iens.ocddre fI two namotsuti are ofund yeht are odgniesad htiw .FC

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bharatpillai  i arwse to odg moes tsshaa hwo rotew hsti oisnuqte tylmadeiiem folweodl ti up by akmnig a iwaipekdi stop bauot it ot perndet leik htsi si emso ocomnm odewkglne edalmic dettssun reew dusepsop to .evah +1
utap2001  !erGat trfAe dngraie uroy ,xanaopnilet I layevuentl durtannsed eth mnngaei of ihst isu.tnoqe +



 +1  upvote downvote
submitted by โˆ—unknown001(9)
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SLME.IP 3 t.ssep

  1. ew kwon htis girl ash icysct bsiiorsf .

  2. tub nstigte wsosh ylno 1 ellael is uettdma.

  3. cnies esh hsa ,FC eht hrote leelal ONANCT be romlan , dna the yoln aotxpinlane ot hre nvahgi FC is hte alpen idtnd eettdc i.t

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 +0  upvote downvote
submitted by โˆ—sweetmed(157)
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oyu dene a aotnmiut ni 2 ellelsa to get FC ces[in it si taooamsul ee/sriecv]s

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 +0  upvote downvote
submitted by โˆ—an_improved_me(91)
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Ahenort t.ng.h.i I'nts ti esslpboi ttha hbto hte sawte ecrliodh stte dna the memiecratiuonv sntirpy rea ujts alsef +? hBot of steeh etsts veah pyrtet owl rsoetlhdh fro rnitegrun as a + pnss.oree Wyh a'tcn ti be lesbipso hatt noe iclleal toianmtu si nuogeh ot ueacs a tsvpioei esulrt ni heets ste,ts wtoihtu alatcuyl fyisggnini teh tp sah a ?asiseed yM ylon uegss is taht censi two raesnws itdinace ahtt hrtee duclo eb a felsa iitsopev, hnetire acn eb the trhgi erswan.

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