usmlerx biochem- others (48)

8/3/2019 USMLErx Biochem- Others (48)

1/97

34:J678910111 2 "1J1415181718

1 - , I

..192021222J24252 8n

A 2 5" ye a r- .o ld ma n is . br ou gh ttQ t he emer ue nc y d ep ar tme nt b y h i' s n ex t- do or n e' ig hb or af le r b ei" ng r ou nd .u nc on sc lo us .T h e ne ig h bo r reports having last s ee n, t he ma n. w o rk in :g in hls yard about 4 'h oms e ar lie r. NCl.medical hfstory ls~Nailable. On physical e xar ni na ti un , t he . f : "a ti ~n t h a s a blood pressiireof 60/40 rnrn H . g, a p u l. se o f ' 15 0 /m ' in , a n dre.spiratio"n.s"Of1 O/ rh in . Pe s' pi te t he ' e ff or ts "O ft he 'eme rg 'e n cy d e pa rtmen t. st af f, t he mancannot be.resuscitatsd. O n_au topsy , he : lsnotad to hav.~,extrerr1e ly flexib l .e j 'o 'in ts 'ar id skrri A"n um be r o f bruises ano/not.ednnhls thor


2/97

678910111 2 "1J1415181718

Fa.iC!hy oD]bg.en s.p:i t~]esi ,sq. lL]!&l[1g:t HjlJereXh~'l~ilb]eskin2 ; Te~,lii1.ency ito M . e e O ! ( e@s) , b,uliilij.I]g)

Tilt! correct ~nswer ls A. Ao rtlc 'a nel,lty-sm s (b o th ab d o m ina land th0rae i c) a reseuuelae.of'Enlers-Danins syndrome, a gmup of d i so rde rs cha rac te r ized by j 'G lin thypermo.b i ll ty, . .skin hypere l .ast iC iW, e


3/97

34:J678910111 2 "1J1415181718

F ollo win g a n orm al p re gn an cy a nd la bo r, a b ab vis bo m to a y ou .n gc ou ple ..T he b aby , e rre sIm m ed la te lv a nd h asAPga.r scores o fW a tb oth , 1 and 5 m in ut es . Wh iie e xam {n 'in g th e b 'a by , t he .p ed lamct an a tt he . de liv e. fy notestnartnebaby has somelabialscrctal fu .sion 'and aphal lus- l ik8:organ. The b\lby'i .s:;~iIScinoted to.be hy'potensive'andhypovolem ic. Genotyp ing isdone a.n~nhe.babyis found to J :J e. 46~}0{.Wh ich o f t he f dl lbw in g i :; dh e :mo s t' l' ik e jy . ca i. ,r s e 'O fpa.trent's: ~ setJdoherrriaphr'od itis tT I'? .. . ,.'

. . ._ .j . A . 1 1 - ~ :Hy .d r oxy la se ' d e f ic i e n c y> O J B .. 17-~-Hydrpxy. lase 'de 'fi 'c.iency., _ ) c . 21-~-HydroxyJasetlefi t i8'ncyUD.5-o:-Reducta.s.edeficfency

E . M u ta tio n in th e a nd r? g . .e n re ce pto r g..en e

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4/97

34:J678910111 2 "1J1415181718

E is not oerreet , cornptete a nd ro ge n in se ns itiv ity is a re su lt o ra m uta tiO "n in 'th ea n.d ro ge n re ce pto r g en e. T he se 46,m pa ti en ts id 'e v el ,o p .t e. st es and f ema le . e x te rna lgeriitaiia and , V< lg in


5/97

34:J678910111 2 "1J1415181718

A researcher investi .gating mechanisms ofl ntr -acellular s ignaling. develops a mouse m.odel us+ng recombinant DNAtechhuiogytQ.gene.iate a gj3.heknockout. the F2. 'pmgenyexf:l ihit dwatf i:sm; hypogonadism; and hypothym.id'i:;;m Withlow levels 6"f.fblticl:e-stimulafing hormone _(F~H), luteinizing. hormone (LbO, and thyro.id-stimul"atihg hormon~.(TSH) butnormal levslsnf ACTH. ln addition, the. 'femaleprQ,gen~tel {hibif impaired milk-secret ion. Which of the fol lo0ing is the'3eJond-meS"S.enger molecuLe for the tntracellular sigmiling .system thafismost i"ikelyimpair~d tn this,mo~se model?

,._,.j. A.Cyciic adenosine monophosphate> O J B.,Cyclic g!Jaho;srhemono"pho;sph~te,_) C, Inositol trisphosphateU D. steroid nuclear hormone receptor

E ..Tyrbsine:kinase

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6/97

111 2 "1J1415181718..192021222J24252 8n

Th e eerraet ii1I1SWelris t. Th e k no cs ou t mo us e model de sc ri be g e xh" ip it s a p ~ .e no typ eco ns is te nt w it h impa il eG :i function 0 {a ll.o fth e8 YiJ oth ala mic h or mo n e "s with th "" ,e _' -~ ..m ~R ill[!j~ co rti:c otro pin -le le as in g l:ro rm on e(C H H) . T he h yp oth ala mu s p ro du ce s aportent hormon:esi. in.clud"ing .trop'h"lch orm.onB->relea.siAg hormone, tbat-I-~_""-""":. .01 :1 e,


7/97

34:J678910111 2 "1J1415181718

v. A. Decre ased fb ll ic l e -s ti t' rm la f ing ho rmone> O J B . Pe c le 'a se q t hy r _o id -. s tim u la t in g h o rmone,_) C, I nc r e: a se d ammon ia "UD. i ncreased i u teTn ' fz i ng ho rmone

E. Inc.r.eass tI te stcstsro n e:

A yo un g c ou ple p re se nts to a fe rii.l.ity c lin ic b ec au se th ey . h av e b ee n u na ble to c on ce iv e' d e s'p .ite tr yin g fo r th e p as t 1mon ths" e m e xa m in att on , th e ~ "T -y ea r" ol.d h us ba nd is ro un d t o. h av e sm all te ste s M id m ild g y ne co m as tia .. H e js 1" 88em ( 6 ' . 2 ") till a nd w e ig hs 6 4 . .4 k g ( 1 4 . 2 I b ) ( b od y mas s in d e x= '1 8 .2 kg ir n :: :: r F u rt he r c y tb g .e n e ti c t es ti n. g r e ve a ls t h e.presence fah additiona] X chromosome in h is c .e )ls ,Wh ic h o ft he -f oJ io w in g I ?b of at or y res utt s is cnnsistentwiththisman 's : cond it ion? '

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8/97

910111 2 "1J1415181718

COiIUllif.ilOlll C:;(JIJ(Be q f~~ypagou~ad l ; ' lmlS'en 'i:~~: l1 fer t~1 i tJ '~llalfiP'

. : 1 1 . is [wtiI: i l rr~.Gt Hecause,gf-t~:s.f iclJlar dysfWflcti~o,n,.fol l" icl :e;sti-rhulati \lg h:Qr-mon-es 'econdt fr i; jybecomes. i ncre .as 'e d,ho t decre .as 'ed ,i n K lTne fe l te . r' .s ,Synd r .ome .,, 'E li is n ot c er re et , T hy ro i~ -s tim u ia tin g h ormo ne , a .m s as ur e o fth l[r oiQ < fw nc tiO "n , h a s n o,eHnital app lfcatlconin diagnosing.K linefe lter'S sl,lndrome. .C is uet eerreet. lncreased ammo nia 'c an b e s ee r( in h ep at iC : e nc .e ph alo pa th y. H e pa ticdj,S"8;3e,ta n also. c a us e J ' : i y p Q 'g 0 na,d!sm 'an"d . g Y ne:C,o.mast"i :;tdu e tQ,d.eue-;1'tSFdc j E ! :; ;l r' a n c e . g fe '.M ro g et '! s: Amrhg n fa r eve ls a re . ncrrnal i n Y fTne feJ te (s sY~Wo 'rhe;.E is no t c orre ct. V ii n efe I te r's ' sy n d r o r na - c a US e s- ts s ti w i a r a tro p ~y. T h i s r~%u I t s ' indBHe. ase d, n o t i nc re a se d, testosterone.

..19202 1222J24252 8n

--------FI:RST AIIDK1!h~,ere]tem's s V l C l J d i r D l i ] J i e ,;->[~TI!a~e]X X ' Y ) . ,

[:g~IO-T e . . s ! t i i ( ] > l . d a J i :. l l . ~ : r o p , h i y .elJl.l l1l.I1Q.hoic~ l b .a d } i s h ;( Jp e , . t~I.l!,]O"I1g'

eJ \ ;1a:-e~lt~.t ies ,g)"i:Ie;:::cllmasttl


9/97

34:J678910111 2 "1J1415181718

,._,.j. A. Geramide> O J B.X,;


10/97

34:J678910111 2 "1J1415181718

"E is 'I1!lt correct. Sp h ihgos in e ' is f orme d f r. om s srtneand paJrrihate0 ge ns u ~p le mentati 0n a nd a dm in i stra ti 0n o f a r ti fi c ia I s u r fa c t a n t ' d ir .e .c U yo J he I u n9 s.Wh iC h .o r' th .e f ol lo 'w in g' is a n lmportant c;omponent O f llp ld-rtch surtactan t? .

. . ._ .j . A. Geramide-..J B.X,;


11/97

34:J678910111 2 "1J1415181718

1 - , I

..19202 1222J24252 8n

E pid em io lo g"i:c .e ;v id en ce in dic ate s th at e le va te d s eru m c ho le ste ro l le ve ls in cre as e a p atie nt's rls ko f d ev elo pin g.c ow na ryd ise ase . T he re la tfv8 rtsk ofco ro ha w h .e art dlsease i s e i ghU im e sg re ate .r i n, a n fn di y id ua l w ith a plasmacholesterol.level oT 300 m g/d L.tb an it islrran.lndividual wi th 'a' I~ve :J o f on l. y '150 m gidL . In patients fo r w h om.pharmat .d logiC t rea 'tmenl is i "nd ica ' ted in addifion t o ! if est y le . ' chanqes, a va :r .iE4yo f ag .en ts < i re available .. In particular,

J s ta ti ns h aV E i . b eE in s hown to ~ ig ni fi (a nt lv r ed uc e a ve ra 'i l m o rt al it y'a s:w e ll as .s e. ri ou s 'c ar" dfQ va sc ul' ar e ve .h is 'i nthese patients. Which o f t~e 'f o llow ing rnechanlsrns d e~ cr ib e.s -th ea cti on o f statins i n r educi ng ge rum le vel 9: of LQL'c hn I E ! stero I?

\ : . . , 01 A.C:om f :" ~ ti fi ve' in h ibit . ion 'of ' 3 - hy :d rQXY- " :3 -et hY l g lu t a r yl 'co "8 m:ym e A re du etas 8 .v tj. I na ~t ivat io p.l)f ? - hyd. r6q- .~- methyl gI~ta: ty l.~o.enzyt' t1e A 9yn.tha:s~u C . N e g'a tiv e fe ed ba ck .. o d ec re as e th io la se a ctiv ityJ D, Noncornpe ti ti ve- i" nh ib i~ io " n o f ci1 ra t e syn"t ha. s '8U E.Po s i tive fEied ba c k t o inc re a s e 3 -h V d r ox yd -m e th vl g I uta tV Jco enzym eA IVO !eeO ! t i vi ty

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12/97

678910111 2 "1J1415181718

(bol estemlsy'nthesis

The eorreet a nswer ls A. : 3 -'Hydroxy~3 '"methy lg lu ta tY l coenzyme.A reductass (HMGR)t s t h e rate., ri r r. i tin g ste.p, in 't h e sy nth e sis o f c ho i e s te ro I. T h e e n ~m e wn ~e rts 3 :-hYdrow-3-methy, I~ lu ta tY l coenzYme f ! i . ( HMG -C A ) to .i ne va to ni c a ci d, a c ho te ste ro l p r i3 .c .u r so r .S t qt it lS t omp:e . ti fi ye ly . inh ib . it HMGR. .b~ .obs . tr uCt it lg pa r t. oyt he :enzyme '. s qc t i\ .; "es i te ' andpr i: lVe f it iA g . su f fi .c iep t i n t e la . ct ipn wi th HMO-DDA , t" o !i ro : du - c :em 8vato.n ate. 'H i s n et c or r@ c t. 3 -H y dr ox y- 3- me th Y Jg lu ta tV l c o e n zym e' A (HMG-:C o A) s vn th as e ' is th ee nz ym e t h a t .c om b in e s a c' e to a c e .t yl -c o.E in z' fme A w it h a c e ty l- cO E in zym e A t or o r rn HMG- 'CoA. It re pre se nts a p re lit'n in ary s te pin e ho le ste re l s yn tb es fs a n'd is n ot thesite.ot3tc;:tion o f the st


13/97

34:J678910111 2 "1J1415181718

A 1 4 -y e -a r- .o ld b oy p re se nt s t o h is f am il y. phvsiclan with complalnts o fm u sc Je w ea kn es s. a ffe ctin g h Ts a bifity to p la y o nh ts s oc ce r te am . P hY 9ic ai e xa rn ln atlo n r ev ea ts p se ud oh yp e.r tro p;h y. o f h ts c alf m us cle s. T he b oy 's fa mfiy h is to r:y ispos it ive fo r s imiJa (syr i: Jpt 'oms ' in a ma te rn al u nc le ; w h o se . c o nd it io n p ro 'g re ss -e d t o. a w h ee rc ha .i r- bo lmd s ta t~ b ~Y J h: eag .eo f 30 vears, p...f ier"furtherdia.gho:it iC' tests, i nc lu d in g m 'uSG , !Bb io p :s y a n d g 'e n et ic a r ia lx s is , i t i s . d! 3t e rm i ne d t h a t t hep at Le f1 th as B e ck er 's mu sc ui ar d ys t' ro ph y. , -Whic h d ft he f o. l) ow in g Is : the .e t io l ogy o f t h is d i so rde r?

. . ._ .j . A. Au to somal d om in an t> O J B . Al!to so m o t ! rs c e s.s,ive;,_) C. Mi tochond ri a l i nher it anceUD.Soma t i' c mu ta ti on

E..Hinked domlnantu F. X - li nke d r e~e ssi ve



14/97

4:J678910111 2 "1J1415181718

E is not oerreet. X 7 1 il' lk ed d om in an t in he rit an ce s ho w s oissasstn a r :w Qf fsp~ ing whoi nh e rf tt he a fFe ct ~d X " chr omosome . . lr ls t ra tl sm i tt ed .fmm 'f fi tb e rs t o a .l i th Edr ,d 'a .u g ht er sb ut n o n e . or th e il- so n s , ;"m d fr .o m m oth e rs to s on s o r d a u g h te rs . B e c k s r 's m u s cu la rdystroph'y ts n ot i nh er it ed it i th is manner,

Threcorrect answtir is F. > H inke.d fe c:as'siVEf in h,er ii ; ;ln .c:e . .hQwsaf [e ct M m.al.ei nd iv id u al si n~~ .r it in g ' a , de fe c ti ve , co pY 'o f t~ e .X chmrn n su rn e [ rom he f~ r oz ygo u -s .(a ,sYmp toma ti c ) mo the rs : Thers ' is n o ma le -t o-mal e tr an sm is .s io n . He te ro ZY i; fo l, .l Sf 8ma le 'S ~ ay he :a fr ed e, elr bu t u sua ll tn u fa s . S8 ve r: el y_ a s~ a le s . Be c~' er 'S - rn 'u scl Jl ardy,stroptw rsa mi lde r , s l owe r -deve lopm:g form of dyst rop.h l l lloPCi tby wi thma nr te st atr on s dm ila r- to . t ho se ,'. df Dt Jc he nn e' s mu sc ula r d ys tr .o ph y . .:A . is n01tOiT,ett Autoso 'm.a l dorrilnant i nh e ri ta n ce ,sh ows d ise -. a: se i n r ha tr v ,ge[i81;; l t ions, ,wi th i ; ':o thm.a l~:s'and femal~:s"a f fe :cte .d. IHs . ' p . 6 f sibIe'fqr'~ rnale ,9r'a,fem!3l;e,to t rans rr t l t tha de fec t il ) 'e ~ .e .ne to th .e " r. o ;f fsp r in~ . Becke l' s muscu la r :qy .s t rop .h: y i s 'nnt inher i ted In th is manner. .B ls not correct .. I n a ut os oma l r ec e .. s iv ein he rf ta n: ce -; a ..d e' fe et iy e g en eJ wm e ac hc.ar .r rerpa r-en t i s t rat ;JSr .h i tt e .dto the .o ff spr ing ; D ' (sea -se ' ls.otten seen in onlvoneg:et18"r-~ti6.n,Ma le s a n d f ema le s a re .e q li ~l ly l ik e ly t o. p e: C i ff ec te d . B : e c l: (e r~ d r( usc i: .J l~ a rdy'? t rQPh.yi,s 'r' fo tinhh ite :~ 'in th is m a n n e r .Cis I'iot cO!rrect: In rrtlmchurrdrtal inheritance, ,all ,chHdr.en{rfral.e.a.n.dfem!3I~8}ofana ff ec te d mo th e r e xhi ,b it t he ' dlssase. The d ise 'a se ls nu t transmitted ' fr om f at he ls 't o' a n y'.Qf th e ir th .i ld fe .n ~ o nl ymaternaltransmlsslern. BeGke r! .s muscu la r . Qvs t rophy lsnot 'i n h e r i ted in th 'ls rn a riner. . ...19

202 1222J24252 8n

D is uet ee rree t. Soma t ic mu ta li o ,nsocc .ui "i n the; so'ma ti c : (nDn -g:e r'm) .t issues fheya :r~ .tI.n.able'toQe transituttedto of fsp 'r " ih t r ;: '1h~ 'o f len o.CCI ,Jrn is 'OI ;1 ' l t8 ,0t )d . ividu.a ls-with in a,f < H ' n H y . Male:s'and female.s"areve_quaJly :SlJs"C.e:p t ib le tdspmat iC; m;ut9t ions', .~e(kef 's '" . - - , - - ..muscular dY,str.ophyis hot ihher' i t.ed in th i .8 ,manner:. :

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15/97

34:J678910111 2 "1J1415181718

A 4 '5 "w ar-.o ld w om an p re se nts w ith a h is tory o f g en era liz ed m us cle w ea kn es s a nd b on e pa in . H er h Ts -to ryre ye als th atsh e ls n ot y et p os tm e no pa us al; h ow ev er; she.eats poo r ly , ra re l y drlnks mi l .k , and does not get .o ,u ts i_demuch . .A carpa lspasm is h 'o te d a ft er fh .e CQ ; 1r .ls n H at ed w h ile ' th e p at ie nt 's b lo od p re s -s ur e i s me as u re d . .L ab or at or y tests showa totalb lc i. ur n" ! eve l"O f 6.0 rng/dl., and a phosphate . reve l o f 2.0 m.g /dL . .Rad iog raph .s 'd !3mOn ,s : tr :a tea 'd if fu se .' fad i: o ll icency and~ .educed .bone aens it y . . os teoma ' !ac i a ' is suspected ' . Wh iCh o f t he fo fl ow i" 'ng j ncre as :e. s ,rheac t iv i ty . o f 1 -a -'h ycf roxy i a's 'e i n< t he k id n ey? '

...J A. Elevated t ,25-:d'ihydroxych.ol.ecakiferol.) B.. EIE iya i et i pa r "a thyro id ho rmone:U C . E le va te d s er um c alc iu mu .. E le -Vat e dse rum ph~6sp ha te 'V E.Increa sad su n exposu re



16/97

6789101 11 2 "1J1415181718

. R em em b e r : i l i a : ! : C I [ ~ ~ ] . k i I i l ~ u t t ~ ~ l k(fOdillfued wH:ih..it;m.1~[1 D) hg o o d ! fO F bone s ,

The eorrectanswer ls B. n i "s pa fien t I :s su ff e ring f ;r omv. it am}n D Glef iCiency a l :)dostenmalacla: osteornalacta c an p re se ntw ifh b on e:p .a in in d m us cle s w ea kn es s'w :ithr edlJci3 .d bo ,ne ." c fen sJ tyon rO ld iogr ,aphTcexam V i t~m ' in D 'can b .c o, ns um e d in r rr il k(ergo"C";: : ilGlf~{DI) 'r" form.ed in.sun-sxpused skin (th"pl!3c.;ilIc. iferpl)_T'h!3'act l:e'for 'm ofi ;i t~ r n if ! D iS " '1 ,Z5-dihydr !Jxych9 le.c"~l.c l fe' r91 ( .c"~mtr ip l) ; whic.h jsp.r :oduced in t he , k idh"ey ,anoits ' p roduc tion is ' c ~t -a lyzed.py t he enzyme: 1 -0 '- hyd r .oxy lase . .The . , act il ) 'i ty .o r 1 ~fJ:-h yd ro ii la se i s i hc re as eG l' oy a n e 'l ev at e'd p ar ath yr oi d h 'o rm o ne l: ev e'I, d en e'a se d. serumc a lc lu m c o nc e nn a tt on , o r, u' ec rea sed se rum phosphateconcentration.~ is uetcorrect, W ith the h elpof l- cr,- yd r ow l. a s e , 1~2c dihyd r.oxyc-h,oe C alUfe wi l ev e l sl nc rea se , E l el {O !t ed Leve l s' do no t i nc rea se i he .a c ,t lv it y . of th is :e n zym fCis [wti::cirr~~ A d 'e: c re . a' s ed ,' ra t he r ,t h ;; ln incr ,eas 'e . d" selum.Ca '2 t w i ll ' inc rea :S 'e ..ths,e-nty.me',s,actil) 'ity_ ., .[)is notcerreet, A. d ec re as ed , ra th sr,th an in cre as ed , s eru m p ho sp ha te w ill in cre as ethe. enzvm e: '. s ac f ivi ty : .E is nl l ;ln~orrex; t :. lncreased sun' e) - fp.os lJre,resultsin an in"creSlsa.ofv i tamin D '3( cho ted lc if ~r 6I )" , w r ic h i :: ;f ormed in . suh -e l- lpp ,sed sk in .

..192021222J24252 8n

-----------------F 'liRS ,T A I ID '[)2 = el ' ,goc1lkii[e- tol, C OI :US , ti . l iI l l e d , . ~ n : n l J I a : J l .D 3 " = dw]eC : ,3 , ]c lFe l 'O ] , f O l ' . n > l ! e c ] im 5 l : . 1 ] ] ) - ,e J l p i M i e d skiil~,2 , -OH B~=,~roi: .agdDqim,l.2" (OH}2 .D ~="aduYe fotm.R1c~ib in (J:I~'MUel] (lbe~. 'U;du]]glboJJies) ,of!teom


17/97

34:J678910111 2 "1J1415181718

A 2 5 "w a r- .o ld w oman comes to h e.( fa m ily p .h ys ic ia n fo r a r ou tin e c he ck -u p. H er p hy sic al s xa m ln atlo n s ho w.s a m iJ dly ,.0YE!rvvelghtwoman butis otherwise unremarkan le. j. , fa s tin :g j ip :id pa ne l, h ow e v. er , . s ho w s a n L bL cholesterol level.of31:0 mg /d L, a n H D L le :v el o f 4 2 'm g fd L, a t ri gl y: ce r id ~ l ei le l o{ 1 5 0 mg I dL ,: an d :a t ot al cholesterol l e ve l 0 (3 '8 .2 mOg laL .Shei s d i agnose :d with f a ,mi li a l hype rcho l.E !s te ro l emia ' . .l n addition to rnodiflcatiorrof'dietano r.eg,ul:jlrexercise, which of th e

,I : i ng t "r e atmen t: op ti on s 'w f ll t he ' p h ys jc i, an mos tf ik e ly " re c ;ommend?,__,.j. A . B co m p .1exvitarn ln s> O J B . HOrmone r ep la t e m e nt t hE ! fa p "y,_) C, LD L apharsslsUD.UveJ transplant

E.sta ti .n medicat ions,

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18/97

1 2 "1J1415181718..192021222J24252 8n

Tile eorreet answer is E .. D' i' e ta r y mnd if lcs tion . (drast ic , aJ ly i im i fi ,ng . sa t ur .a t ed . < j -t :id ransratsand c "ho les te roi ) , We ight lo ss ., .:and 'aerohic eXB ' rc :i se: a re t he f ir s t- line: t rea tr h ,en ti ~ti en{ with .ele~ated c 'hole stero I ' l e\ l' e ls " and th !3s e~ il fes t rl e .. I .. s ho uld b e.' a ~~ .ti:ld b yth is ~p atie nt. E ve n th ou gh th es e e ffo rts

po ten tiate th e effects D fdru g th erap y in low erin g L DL leve ls, the y.w illli,ke ly ha ve on ly am in im al e ffe ct in a p atie nt w ith fa milia l h yp erc ho le ste ro l8 'm ia ..stattn rfle dic atio hs a re "

r oxy


19/97

34:J678910111 2 "1J1415181718

A neonate b or n 4 h ou r.s auols h av in g d iffic u.lty b re ath in g: T he b ab y w as b or n p re m atu re ly a t1 8 w ee ks 'g es ta ti.o n. H eis tac.hyp:ne ic.and ls . us i' n: g hie a cc e as n rv rn us c le s t o b te af he w it h n a sa l f fa rin g a :n d. gr un ti. ng . T h e. ba by :s h e ar t. ra te lsf2 0/m in , b lo od p re s-s ure is 1 00/60:mm Hg , a n d r e :sp ir a ti Jr y rateis 55 /m in . Ana . lys i "s 'o f "amn iot ic . f lu Jd revea lS 'a!e .c i th i n : s~h ingo r riWl in ra ti o o f:O.9 . Wha t . is t h is baby:s l ,uhg !ac :k i "ng?V lA o An gio te ns in -c o nv e rt in g e n zymeuB.'c.on:,igenuCDipa lmi toy l p ;ho .spha tiC iY :l chol ineu6 Elastase._) E. MyeJih

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20/97

678910111 2 "1J1415181718

MiLlC"qj3. se c [ . e il : : ion f ; lire . s w e i B i t..a..s, -r o J .G I 1 ! J J t o f i: !heJq[lt~,tOWE!..[ j.U i i l e

The eorrect :answer iSt. T his b ab y-w as b orn p re ma tu re ly ..and t he r ef O le ' h i s l un .~ shave 'n nhf lJ ll y d .e v eJop8d , Type I I pneumocvtes i n t he lwn 'gs are. responstb ts for,se c . r e t i til g S !Jli a c t a n t ((fip al r n ~toylp.ha s,phali.dvl e n o l ine ) . Add i t i a ncally, al eti th ln :s -p hi hg om y eJ in r .a ti o.D fl es s th ar J'2 .a ,i s a ss oc ia te d w i fh a g re 'a te r risk ofneDna !: ii "i ' re . sp ir a to r y " d is t ress~syn ,drome,.Th is~ bab ll is . showind s_ igns 'orneonatalr ce?p j "r ~ tQN9 i , :: ;tws :s , synd :r p r'ng due tQ thefi;1'lck o f s}Jtf ;1'lCtqn t,A is I'jot correct: An_gFote.nsin-conver t in_g e-ntyme {ACE) i s f ou nd p .r im a .r il y in th e l un _g sb ut i s aI s rr pr e se n t t hr o u gh o ut t he boody . .AC E lsakey.e f lz yme ' invo lve G :I i ri t h e ' rs n in -angi.otensin svstern a nd c on ve rts .a ng io te ns in I t o a ng jo te ms in H , a po ten t'v . asocons tr i" c to r . However, Ii is notassoetated with n eo na ta l d is tr es s s v nd ro rn e.Bisnoteorrect. Co : ll o' !Q , eni s' anh1wor ta n t pa rt o ft h" e: c on' n. ed "i v et is s ues i n I .u ng ,s .HOWe.Vel, f~ (s- rror ;3Ss.o( : 'ia tedwith r reQn~t ;i l1re,spiratoty.d.is t~e?~s.sY" r!drQrrn3,[Ii is I'jot correet. E: las t~s 'e , i s , an ,endo_genou-s . p r( ) teo IY tic enZYme ih "t he .l .u t 'lg t h~ t isn or m 8 1 1y 'b roke ' r l d own by a 1- a n t it ryps in . I n 'p at i e f lt S'W it h a 1- a ntit tYf 'isi n def i c- ie 'nty,h owe ve r, th e re i s a n . in c: re ,a se d 1 8 ve ro f e la sta se , Wh ii ch l ea ds :t o Iw n g tissued estru cnon a nd e mp hy se r na .E is lli{ln~orre"C{.Mye l i' ri i p'$ yn th 'e sii~ (i" by ~ ch wa nn c eiis jtis la ye re d o nfo 'n ery es a ndh.e. lps 'spe,eq IJp' tl ' te ' t r"ansni.iss ipn :o f !3 .leCt r f (a l impulses ' :down'ahE)roie~ Dbt r ' l, Jet ion ofmye li n' h ,~ :; 'p e '~n i :mp ;l iC . a te d in neur ode -ge [i 81 ;; lt iv e .d [S e 'aS '8SS' ur ;h a 'S 'f "nU .l ti p .l e .sclemsls ..

..192021222J24252 8n

----------------F 'liRS ,T AI ID '}lseuclocdt.l.~tlil:;!IciH~tedi ce lh e1 ' ! i l : e l r n c l i 'ta,~e

r es ph ,d or y~ ol :l cM Q le :z , ~ 1b Je t 4e~~.s;:\ :te~ID Qljilly.

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21/97

34:J678910111 2 "1J1415181718

A 4 -y ea r-o ld b oy p re se nts to th e p e.d ia tr ie ia n w it h " ja un dic e a nd .c on ru sro n. H is m o th er s ay s th at th e p atie nt h adn au se aa nc v om itin g th e p re vio us d av an d th ath e re ce ntIY 's ,u ffe re d fr om c h'i.c ke np ox . A liv .e r bio ps y ts n rd er ed , a nd th er8 . su l ts 'shoW mi . c .rove :s i .cu l .a r fa t l' { change - ,Wh i ch c if t he fo ll 'ow ing i s t hi s 'c . h il lj 's m:os tl ik '8 IY ,d ia .gnos i s?U A. Gilbert 's svndromeU B'.N:eonata I hepatltts,J C ..R.eye 's . S ' ind romev 0, Ro to r' s s y nd romeuE. W i ls o n' s d i s, ea s e

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22/97

8910111 2 "1J1415181718

-------F'I:RST AIID

nle eerrset nl1swtir is t. T h i .S , pa ti HA t's p re s e r ta Ji o n i s' COns i s t en t "Wi th ~ev .e 'sSYrJdrorf le', :3 dis"Order Of fatt ( ihf i lt rati 'on o f th e l iv er s ss oc la ts d w ith i rn p:a ir e'dm ito ch on dria l m eta bo lis m o ffa tty .:acids. It u su al ly ro "l lo wS a v ira l lllness (eSpe-cial!vvsnce l la -znste r v l rus an :d .l nf lu em8 t ype 8) wi th concur ren t adminlstrat len of aspiri t il InC hil d re n an dis pre ced ed by n au s ea and va m ifi.ng. I f th 8i C hild pre sen t s with'j a : u n di.G.e,a s s oc i ate d fi n di n g s .are IJ s u a lly e n c e .p h al op


23/97

34:J678910111 2 "1J1415181718

A 5 6:y e'a r-,o ld m an w ho is .a n a lc oh on c.p re se nts to th e e me rg en cy d ep artm en t w ith s ev ere e pi:g as tric p aln r-a dia tin g toh ts h ac k. T he p a {n w as precededbvnaueea a nd v om itin g. H is p as t m ed ic al h ts to ry ts n ota ble . fo r g ,a ils to ne s.l.aboratorv t es ti ng . r ev ea lS 'a lip a se l ev el o f 800 l J jL (nort tJ .a l to-14c i l J/ L) ., :a 's e rum amy la se' le :ve l o f 1,0.20 l j fL,anda\NBC' g:0,unt'0f13,200lmm3.jIVhiCh:of the ' fo llowin .Q pathophysio log 'iC mechanisms is rno :i t l ike ly re sprmsibje.fur thispatLent's pY eS : E ! ntstlo t " J ?

.._.j. fA . E xha lJ s tlo n o f e nz yme r es er ve> O J B . Hype raGJ i v~ rsrrl n-.E ing'iote ns i n' s y st e m,_) C, I napp rop r ia te enzymeac t iva ti nnUD.lnapp;rop;hte e n z v r n e deactivaUon

E . p H a lt er at io n o f t h e s ur ro lJ nd fn g'mH ie u

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24/97

678910111 2 "1J1415181718

' 1 ; : is not eerreet, pH alteration QfJh!3 strrroundinq mme_!""s h~t 'atne:c:~.an i ,s.mres'p 9 t' ! s; ib Ie to r a . ~IJt~j)a t :J . r8 a t it i:S~ .

The cQm~ctans,W~Tis C. : : ;ymptoms"Of se l le r~.ep ig"lst ric pa in rOld ia t ing. to the: .back,h,a'ui3,f;f;1'l,an.dvorn1tin_g~.cQmbin!3,tIith riskfactors s uc h as chronic arcoh,olusF'anagaJI'St.o.tres',:; lr~su 9 g~:stive.:Ofau t s , p Oin.cre;:;ltitis',In C r s as ~ :s' ir i. s'e'rUm 'Ii pa's:e'at:J:~a .myl aS 'econf irm the d ia_gno.s is . P 'q_thol ogi cOil Jy ,acu te p t fr ic rea t it is i s ma . rl {ed by :n ec ro sis a nd mnarnmanon o f t h e p -aAcr ea ti c t is~ ue : BaS8G I on anatornlc ' ev id e 'n te o fp an c re at ic . in ju ry ,' th e mos t i ik 'e ly ..mech an ism l e, a. dl ng t o acute pancreati t is . isth :ought 'to .be an l t i1 ;1 '1 .pprop~iOl tec ti v. at io n o r' pa n .c :r e. at ic e nzymes .T h er ej s. ev i. ae n ce fo rt hr .e .e .pcssrhle p ath w ay s b yw h iC h a ct iv at io n o f p ;:ln or ea tic e nz yme s C s 'in it ia tE !d . O n e .possi b, il it y i s ' pancreatic "dud ebstruction resul ti ng f rom"cho lel if h ias_ is ' , ampu ll a ri lobs lruclion , p (c :~ rQn ic 'a lt c (ho li sm . .Ad .ha :r c ,e l l i n iuN causad by arC'bh,o t ,d fug-s,t rf jum"BI, i sc~Bmia :, oX vr rl Ji e :s f~n a ' ls 'dn : sl :i lt .i n en 'ZYma t ic '8i c ti vat io t; J.Fi 'na lJ ' i, de fec ti vei nt ra c ej I u Ia r t rs n s p o rt 's e c on d a .t vto. alco h . o J, , d u ct 6 0 s t ru c t inn , '0 r m:e tab :o l lc . i t' lj u ~ is ' .ano the r 'pnss ib l: e ca8se o f i n app -r op ri a teenzyme ac ti vat ion .iii ls not cerreet, Exhaust ion Oren:zyrne ._ r8se rve rnay-bea .co t: J .sequence o fmul ii pl ein j( f ries-Jo the pancreas, sornenrne s s ee n in patients Wi th ch ron ic pancre ;: lt i. ti s ;Howe.v,er, tt ls no t a H r ech an ism r esp on s ib le . f or a c iJ te :. p at lG r ea ti ti s_

..192021222J24252 8n

H iS not"wrr~.Gt A h ype la tt iv e .r 8! 1i n- at ) gi qf en s it uys fem c "o .mmQn !y occursinco rg e st i. v. e h e .a rt f ai IU J emp re re ~a, lf aUu re '; h owe yeJ ,i t i s n o t s m a c n a n t s r nres~onsible f o r aHJte' ~ancre


25/97

4:J678910111 2 "1J1415181718

J B . C:a.leiumJ C ..phloride.U D.Pntasslum

1 : : . 'S.odium

igoxinis.a cardiac glycoside thatincreases cardiac corrt ract if lf v by inhintracellular ion..concentrations thcreasesas a direct result of digita:lis?V A.Bicarbonatev ,

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26/97

4:J678910111 2 "1J1415181718. .19202 1222J24252 8n

V A.Bicarbonate. . . _ ) B . C:a.leiumJ C ..phloride.-U D.Pntasslum

1 : : . 'S.odium

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27/97

34:J678910111 2 "1J1415181718

fA n ov el d ru uls d ev elo pe d th at s pe cific ally a cts o n th e in te stin al e pith e:liu m a nd p re ve nts th e e pith eliu m fro ma -b so rb :in g g lu co se . T hts n e w d ru g c ou ld p ote .h tia lly b e ,a dm "i" nfs t8 re d alo ng w ith a n in su lin s ec re ta go gu e s uc h a s as ul fb n yl ur ea ,. Th e f ac t t ha t t h e . i n c re a sed ins u l i n resu: lt in g f ro m the .su : l fo .nYJu rea 'd .oe : snotco unte ract t he :ac t io n or then .o i, le Jd rug :suggests wha 'f abo~nh~


28/97

111 2 "1J1415181718..192021222J24252 8n

T he eo rrect :an sw er is . : I t . T re re a re t wo msebanl sr ns ~y whieh.gIUT'O-srt ente rs c:ells;Ha n N a -t in de pe nd snUac il ita te d d if fwSi on tr an sp or t msulated byglucose transpotters,a n.d a nN a + m orl os acchattde G ot ra ns,por te r, svste m e xp ressed in Jntast lna I.ce l is,r E : t " l < l 1 t u b u l e s , and th e .c ho ro i. d p le x u- s: The i at te r s ys tem mu -s tt he JEl fi Jr ebe ,' de ,p e ri den to n " a-high -ekir "OIce" ilu jarNw QTOIdlent,an d f here fo re. "t he: .Na+ -V ,t . pump. The :. I: (E ivtO "f his~qu'es.t(Qn Is ' to recognize'th,arit : ls.ulih.dpes: nQfaff!3ct intestinal .g}l,Jcos.e"ab':S'prp tiph~rath er, . .h"e. in te 9 rity bfth,e ..r: ;Ja+cdep 'e nden, t- - c qtr;;l.t'[sp : o rter ' ; ;lnd th e. re Iati .vB I uml n a I.c o n c'enttaJio n s ~ o f g l u e n s e !n t~ , 9 u _ t a:ffect th'e Intestiha I 8 b s 0 r-pt.i0 n o . f 9 nr c 0 s e.

E li is no t cerreet, The' gl ut os e t ra n spo rt er 1 .r ec ep to r is e > ::p re sS 8d i n brain and.rsdblood.celts a nd ac ts i nd .epen .dent ly o f lnsulin.r is uet eerreet . The g lu"Cose. trO lnspo. rt e r A r ec ep to r- is e x pr es sed i n mu :; ;c l. e: andadipp.s e.ti s s u . e , .[Ii is I ' jot" cO!fI. '!;!o1.~s lj l. in does no t 9 ff ec t. t he i nt es tt ~a .l gl .u ~ose. cotransportmechantsrn. ...E i: s no t correet.Insurindoes no t a ff ec t t h e " in test inai gluGos.e. ;cot ranspor t.mechanLsm.

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29/97

34:J678910111 2 "1J1415181718

', .v. A. Leukotr lene B4> O J B. Pro.sta.gl:jlri,din 12,_) C, ThromboxaneA2U D,Vasculpr endothe lta l growth factor

E.Von Wfll.ebrand factor

A 4'5"year-.oidman presents with severe anal pa in. He is no te .d to have a fluctuant red and tender mass consisten twith a periaJ1al ab s c e s a .Th e pat ient has had cycJi"calr e v e r s .H e has at8mperature.oJ38.1C (tOO.8Ft a heart.ratem89/min, a blood pre:s.sure'0{1.29/85 rnrn Hg,anda respir.atory rate o r 18/tn.in. Theab'seess' is 'in(ise'd and'dra.ined. A;sp,e.cimenof '~he.plis is examinedund.er a microscope and is shown to cnntain a prsdormnsnce cfneutmphils. Whi.ch.ofthe following 'tactorsts most abundant in the pus specimen? . ,.. ,.

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30/97

4:J678910111 2 "1J1415181718

E is n(ln~orred. V o n W j ll eh ra n: ci "f ac to r .( wV F ) i s H ra d" e b 'y t he : ce l l li 'n in g . i rr the : wa l ls~ o fb IQuavs sSBI s ( ve i n s a nd 'a rte ri e s ), . \ N f l en b 1 ' 00 d 'V8"S s el s' a re - d OJ n l ' a . g e:cl,pl.ateIHs'cJ ,]mp -to'gethei:aHh'B ::=ite:Qf1he,rnJuty: il\ f .VF:bin,d_'SIatel:Eitg!y.c:~PJqfe'in : : 1 bandf ac il it ate s p ra te lB t" ad h es io n a t't ~e s it e. of i nj 'u t) l: WV F is ~a ls D ,a c"arri'e-r:off-actor 'VII I ,

Tile corntc1311SWtiris lA. Lel;JB:otr iene (lDB4 iss nsutrepht tchsmotact te age t: lt andw i ll b e abuhdant du ri ng an acut e . i n tl amma to ty '~ ro c e' ss . L T H 4 ls pro du ce n v ra th s ~ ;_lip o}:.y .@ ~ na se p ath w;;lY N im arily .b y n eu tro pn ns a nd m ac ro ph ag e'S a nd is o n-e o Hh emost e f fh t i. ve che rnoaj trac tan t r ne di ato rs k nown . . IU s l nv o:l ve :d i n a n um b er o f e ve nt s,i nc lu di ng s ti rn ul atto n o f leu ko .6 - 'i 1e .mig rat ion' from thehlo.odstr8 am , a cJiv-a lion . of .neuttophits, i nt la rymYal ot y pa in , h o st d "4 f :e n se 'a ga in s t i ri fe c ti on , a n :c {i nc rea sedintertsukin prodycJinn a: r )dt rat,1sc 'r" iptip. ri : I~ js iound ' i n .' e l~va t ed cQhcE)n t (a t in t ,1s trran .um i ;' :e io .f "i n t la r nm"g i tC i r ~ rand 'a l leJg i.O \c o . h~ i tiQns ,sue~ a 's a 's thma, ps OJ ias[ s ,r h e u rna to i da r th~ i t is , tf~d intlam ma te tV bdw el dis e a S'e ~and ha s p ee n im p Iip te d 'j n1he 'p 8 thD~e" nes is ' o f t he 's 'e' d is es s:e s.B is not correct. Pr os tag la n cHn 1 " 2(PGI .2 fi S s y nt he .s iz ed by vas cl Jl ar endotheiiumands r n o n t n r n u s c le. lts e J T e cts i n c iu d e i n h i bftib n 'O fp l a t e l et. ; ; ; ! : Q greg .a t ioH, r e i a x a n o n ofsmoot h mus c. le , r e dl "l C ti on .o f s iS tem ic and '. pu lmon a ty V , a. s~u l_ a ne s_ is :t an c~. bd ir ec tvasodilat ion, and n,at r! lJ.re,s is in k jdney. Jt ' i. s 'pro~u"c:e,dv[a, the cYGl.oo0igeh;1l ,s '8" 'p~~bway.C . is I'iot correet. Thromb.oxane A L (ftA2) i s' a po ten t i ndu ce r -o f p .l at el -e t' ag_gr e. ga ti onand vasoconstncnen . T : r r : J I . 2 h -a s be8n thotrqht to wlilY"a crtflcal mice tr i lhe'pathnge"nesiso ft hr om b oti c' a nd atharosclemuc disorders,U is uetcorrect, vascular e n,d ot he li ai g ro w th f ac to rIV EGFj i s- ;;l substance. mad e byce "i ls t hab timul _a te s n :ew b lo .o d yesse i" fo rh r< '! ti on ; a nd l s a . ~n it o: g: en 'f or e nG :i 'o th eUal(v8"S"SE) l l in ing) ce!1:s,.VEGF is a p:olypep,t ide- :srwdur 'a l ly rel .ate"a 'topJatel~lder iv~G: Ig rowtn tactor. VE-GF i nT tia t8s t h ,e , p ro c es S" p f n ew b In,pd' v~ :sM I g r oV vt h" b y b iM i n g t o;H t - L d oth.eJ a I c eJIs t~a,t Iin e . t h ,e b 1 00 d v e s s e ls' V E : G F b. in d ' S : t .o tw o . s p e U f i c : re c epto rp ro te in slo Un tl'o nIY 'o n th e s Utfa C B o f e Mo th e"li-a 1 W lls : T he ' b in din g o fV EG FtU rn s o nthe receptors, wh ic h t he ng .e ne ra te s ig n al s i ns id e th e CE iI I,u lt im a te IY I- ea di ng -to th -eg ro wth o f n ew b lo od v ess els ,

..19202 1222J24252 8n

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31/97

34:J678910111 2 "1J1415181718

A Z g:y e ar -.old w o m an w ith a to n g -s ta n d in 9 h is to ry ' o r as th m a an d e cz e rn a p re s e n ts w ith w ate ry ,it(h y. e ve s a nd a s tufIVno seo r 3 d ay s' du ra tio n ..T he w om an s ta te s th at.h er s vrn nto ms a re s lm llar to th os e s he ex pe rle nee s d urjn g th esp ri ng . .Herhear t r ate is 8 2/m 'in , b lo od p re ss ure . is 11 '7 /80 mm.Hq, r esp i r. at or y r at e is 1 4 lm jn ,a nd o .x yg en s atu ra tio n is '96 % . Th is p a t ie n~'s~?ymp to rns a ~8.'dli e to th e a ctivatio n o f w hi c h orth e : fo :Uowi ng re .cep td r 's?viA. a :1uB:~1U C,S2l.J 6 Histamine1J IS.Hi:sf~ltbihe2

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32/97

4:J678910111 2 "1J1415181718. .192021222J24252 8n

The cQrrec1anS,w~T is D. T h e '.R a tl en6 ~ ' y mptom s a r~ .con 's iste nt w i th : th 0 se : o f. :: ;- e .aS( in ; il 1J I '! 3 rg i es~hep'9 lt i~nn 'l 'a s . e l {pe r iE !n (. e~ as thma , eczema , 'and a l l !3 rg jes '; il t) . dmP sr i i "k i :l !y . suf fe rs ' f rom a topy : 8e as 'C i n ~i~ .118 rges 8! r e , ~ r 8' :; ul fD f h i sl a'm 'i n e l~e cap to ract i\ l~ tFon! which results i n p ru ri tu s ' , brenchocenstnetlon, a.(Id'in~leased nasal an db r'o nc hia l tn uc us sro du cn en . S e'a so n8 1 a ll er gy s vtn bto ms e an b e treatsd witha nt ih i s ta rn il' le s s u c haS 10rata d i l' le ! wh i ch 'a re h lsta m in e 1 -a n ta g 0nists.~ is uetcorrect, Act iva ti on .o ra l receptors results in vasoconstrtct ton and "inoreasedb loo :d p ressu re. ' ( (1 Recep to rs 'a re p r(mar il y tound in 'b Jo od v es se l w a ll: s a nd 'a 'r e:n otassncia ted wi th a l l~ rg ies . lB is I'iot c O ! r r e c t : Ac ti va ti on o fm r ece pt or s ' !e a ds tQ 'i no tr op y 'a n d ch ro rr ot ro p y. ll 1R e e pt or s a re t Yp ic al ly I cr ca te d, in t Mh e a rf aM s tit nu la tiQ n o ft he '- re ce pt or s r es ult -s t ni nc rea S8 d co n tr ac ti l i ty . ( in o tr o p y ) a n d ' haart r at e . (e h t o no t re PV rC is uotcorreet, Ac ti va ti on . of ~ 2 re ce p to r s te < l ds to ) , 1 6 1s o.di i a tio n and bronc h od fi a n o n . .~2 Rec.ep tor~ a re p . rim_a r i} yoc ,a ted" in bJo :od l ie sse l wa l lS"a (l d irrtharespiratcrv tract.[)/Wg::;th,atanlagphii8' ~2 r_e"c:eptor .s 'ar8 ' ,s 'ed in the tre :a tmE!n l orast l ima.E is Ilot correet, Act iva ti on o f h i stC lmi'ne'2 : recep tQrsJe .ads .t o . i ncn~ .as 'e d_gastr ic ac idproduction. H is ta mih el r ete pto r- s a n:i'lo ca te d in th e s to ma c.M , and dmgstthat .a n ta g on iz e h 'i st am l ne 2 r er ep tQ r s a re u sed 't o{ re a tg ,; ;; ts ,t ro e so p hagea l, re :f il jx d ise asea n .d p e pt ic u lGe r dlsease.------------FI!RST AIID

: S 1 ' imp a t ! h q l l J l' ir n , e i i . C ! lDrugCat~ih~l,uJli.lles

Epl.m:!phli~.[Ie A m l p r o Y ] a J K l J s , gblllCOll1iiiql.(ope~~_~]ng~e.),I .g' fhmH':~.~~:y:!po'~mi! tumif

, "

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U A.AldosteroneU B'.Estradiol,J C ..Estronev 0, Pro"gestemneu E ..Testosterone

A 15 "year7 .o l dg i " rlpresents to -th e p hy s.ic ia n w ith u nd er de ve lo pe d b re as ts a nd h lr su tls rrr . H er m e dic al h is t0 1Y in clu de smenarche.a taue 1 J a nd n or ma l m e ns es .s " j" t;J ceh en : h er b lo od p re ss Hr e ls .90t56'mm Hg . T h e e nz yme. d e fiG ie n tint h is p a fi en t is nee 'o e d f or t b e . p r od u c ti un C i fwh 'i ch C i ft h~ f o ll .ow in g h o rmone s?

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34/97

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n is no t eerreet, P rc rQ ,e ste ro ne i s 'p ro du ce d 'b Y't he "c o~ pu s l ut eum, ~l ac en ta , a dr en alc or te x,aml 't es fe s. E le va ti on o fp ro ge stem nHsi nd ic a :ti ve o f o vu la ti on . The-tunctlrrnso f p r .o g e st e r o n e . '.1 nc l ud e .sf mul ~.tLO'nof e nd 0' m strla I gl a n d u Ia r se cr etto n s , O'VUatien ispjr- .al ar tery .developme[ lt , ma in t e n ance o fpre .gnS lf lcY,. de . creased my .ometf ia le~citahility, production o fth Tc ~ c erV ic al m uc us th at :i nh lb its "s p'e r" tT ( e ntr y in tq th e u te 'ru s,inc~8"; 1 ls " 8"d .o .dy temrJerat lj Je, inh ib i~ion o f gon ,adQ trppins ' (lu t8 i ri iz ing hormone, fol1i.cJ.e--. . : .. . .. ~ -/ - ,.s tl m u l at in g ho Jfn p n e ) ,:.' af ld u te trn e . sm o o fh rn u s ci e re :I~ x? tti Qn. 1 7-c( , :HydroxyIAs:e ' is"n e ce s s t f rY forth e, ,synth e s is .o f p r.o_gesteo ne, b.u_t21-'~,-hyd roxyl: :; t .se' is ' n o t .,.. h

Tile cerreet al1SWelr is lA. 21 -~ '- Hvd r .o xy la s e .de ft .e ie -my cons ti tu te s' th e most : common' fo rm Df C 'O t1g~h it a l ad r en a l hwer 'p la s ia ', I .t is mar ked by de fi e- it s' in g lu co cor ti c, oi d an dmlnerateeor t teotd syn the sis'co wpl-ed with increa sed s ex steroid p md mtion d we to th eincreased. ftow or orecursors-such as p .r e_gnenO' lo n .e ,a nd p roges te rone, t hr oughan .dmgen-Y ie ld ing pa thways; The.rasujtant L oWs e rum c or ti so l a nd m in er' al ow rti cD Laleve lda lgo .sAerone ) a r .d h ig, h s '?: :t st e rC i i .d ieve ls r tr ant fes t c l in ic~a IIY 'as 'hyp 'o jen 'sion,h ,YP 'Pha t rem ia, hYPBtk i 'lem ia , l ic ii .l J .me dep l' i3 tion, t 'r T ;1 lst "LJUn izE\t inn ,nd (ema: lepS8'!J~.pherm .a'p.hrodtti,S.trL ,.. . ., , .H is not Ofr@ct. Est ra d i0 I is th e ' m os t potent o f t h e ' 8 'S tr o g8M. I t fu nc t i~ns tos timu la te . o va ri an f ci ll ic le de ve lo pmen t~ E !ndome tr i- al p ro li fE !r at io n ' and mvornetrlale J( ci ab il ity , d e v e I0p rn e n t O 'H em~ I e re p r ud IJ c tlye- tr ,ac t . an . d sec on da ry sexu 0 1 1c hara : ctM : :i ti cS :,b rea std ev el o pm en t, I .u te ln i ii h g h o rrn n n e s u.rg e,' tee dbac k . in h ib ltion .orfolliclecstirri.ulating ho rmone . .a nd h ep at ic s yh th es is .o f tr an sp o.r t protetns. l7-u-Hydro.ry la- : :; :eis 'n!3c.e:?~aty fur th!3 ,s inth,e s js 'Qf .e st r"adiol ,~~. t 21-~-hydro.ry la- : :; :eis 'nof.

(: is not Ofr@ct. E stro n e ls o n e ' of th 8 ' e ,s trc rg e n s- a nd . I s Ie s sp ote n t tha n e stra di 0 I.L ik e th e . o th e r e s tr og -en s, e s tr one stlmulatesovaslan fo ll ie le 'development , enccmetrialp ro ! .i fe ra tt o n a l :) dmyO 'me td a I . ex c i ta b i .l it v, d eve lo p ment o ff e r na I .e .r e p r o duc ti ve . t ra c t a nds eCDnd ar y s ex ua l c ha ra ct er ls tt cs , b rs as t d ev el .o pm en t, l ut ei niz in g h or mo ne . .s u:r g ejf ee. dback 'l "n 'hib "i tion o f fo l li c le - 'S i it YLUla ti rig hormone ', and h .eRatic~syn thes is "O ft rans .p : or tp lpt~it; ls ', 1"7- .a-Hy'dr"ory la 'S 'e is'h8"CeS;S;1ltyfor' the- . synt tres is of est r.one: b u t 21-~ ,~hydl'PX ytase i.s npt." . , . , .

. ,19202 1222J24252 8n

E is not oerreet. Testcsterons- i s a n a nd ro gs n,' tne-most potent of w hich is

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"E is "I1!lt correct . Ts st o stem ne d'S a n ; : ; I n . a ro.gen , t h e ,mo st po te nt D f wh ien isdihVdrote sto stero ne. :The: a nero g e . n s ,sti"m i : . J I~te: dev 'e 1 :0 p ,m e nt. o f th e' m al e r ep 'r o du dive:tra c}, rm ; Ie' s ecp h d a tv, s ex u a I ch,ar;:)t teris"t fG s, :and ' th e pu b t !a l " g r o " V o r t h .s p u tt. T h ! 3 \ r ; 1 ' l reres'p 9 t' ! sj b Ie to r in'Cre,3's:ed ";; lnab: o n c Ei.f fects ..B IJ C haS"' i nc re aM d m L J " ;; cte . m a's's 'a n d' ri:ldp loo : d ce ll p r oduc tion; t h E iy i rJ .ed i: ;r te .normal spe. r-ma, tage.ne.s i :s ;and th 'ey ' in~leaseIi,bidb. 1 J-( (- iHydroq las 'e is he 'cess3 i tY ' fo r t he' .syn the 's i~ Df t est ost e rohe ', b ut 2 1 -~ -hydroxy.la ss is"not ." .----- --FI~RSTAIID

Ad renal : S1 'e ro id sAO lH K8to::tonmcle' \ ! ~ m l " ' _ '

Q~at;;rse ~iP regneno lo .he

Te.siii!Nn~5 ; d _ ~ r i i I c t f f i l l ' !Am~~ta:Ye'. E ~1 rn tl i'( ll1-deoxytot1lsol@ l ~.

Col ' i l ioosteroo9I AIfl id s t e J ' 7Q 1 . , . et .syfltl'l


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Clfl!:~I~g

p,BCDIE

....) A.A~ B '. B ".) C.CU 0, DUE. .E '

Tvp~ , g i~i!lrbi!!tl!!llilm[Jl'!lI5!;

ijnn~, 1Il.tin~1!\i1!!~~JIfI 1l!~1Jl1'!:'I.$g~, I l OO : I l I I 1 aJ .T I ~T I ~+ I T+ 1 ~

..19202 1222J24252 8n

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4:J678910111 2 "1J1415181718..19202 1222J24252 8n

Th'E!COfl'eOHlnsweri:sB ...O 'b str uc ti ve liv er . d ls sa se r He rs t Q t he o bs tr ue tio n o f"i nt ra h ep a ti c. ar ld fo r e x tr ah e pa ti c . bi .l e0IJCtS w ith s ubs ec uen tc ho le stas ts an d n ve~inj la y . .Th is e .nt itY c .ommon l y p resen ts .With Jaun .dl ce, co .r J jl :l ga ted hyperb fi ir .uh inemi:a ,i nc re a se d u ri ne :. bl li ru bi n; a nd d e c: re ase d u r1 n e~ r o bi l' in o :g :e n . T h e'maj or it y"O f b il ir ub in 'rce:sultsfrom th,e br.e-;1'IMqwn6fh!3ln,e .grDUpS: in ' :senescent etylhrqcytehs .Af ter t :e l lu larr el Base , b 'f il Mbi nb jn 'd ~ 1 0 a lp uFh in , . wh i. cn dE il lv e [$ ths mgl:eclJle to tha.I lver.He .paJo:ceJ lu l !3 l up tal {e . and g l. ucu ron id~ tFon in th e .e .nd .op l ! 3smicre ti cul um g .e.ner~ tecbn ju 'ga tee l ' b il i~~b in ' ,' Wh i ch i -swa te r "" s 'o l ut J le and . read iIY 'exe re tel j' inb i(e , Gu t .bac ter iad Bwn j!, lg at e t he billrubln and degr a d e ltto U .r ob i l. in og -e n s. Th e u ro b il in o g. en s aYe .e J( cr et ed :' I" n t oe f ec .e .s ,w i th some r ea b so rp ti on a nd e xcr et io n l ti 1t ourine. Basedon th'isr ne ta n oi lc s chema , tM IS lbo r.a to ryva lues i n obs tr .uO" ti ~ef ive .rd ise -ase . become . ev ide .l :' lt .Thus, compro.miseoeKc"re l ion bfcorrjuQ


38/97

34:J678910111 2 "1J1415181718

U A. a1U B.'~J.) C.~)V 0,Hlstamlnelu E ..His ta rn inez

A 4'5"year-.oldman presents to-his phys.ician with occas ional burning mid-epigastr ic.pain that is ameliorated when heeats fO D d..tne p a tl e n t has been exp e rl e ndn:g th t s .svrnotom interm itte ntiy for th.epa st 5 months. A d ru g that ihhihitswh'ich :ofth:e foll.owing rece,ptors would behstpfulin t reaf ing this pat ient 's ' symptoms?

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4:J678910111 2 "1J1415181718..19202 1222J24252 8n

Thre COl'rechnswtir is E . T hjs p atie nt'.s s ym pto ms S ire C D fls is te !1 fw ith th o.s e o fad Lr od en a~ U IC 8 .r ~ d uo de tr al u lc 'e cc an ,p e: c8 us ,e 'd py h yp e- rs e( r- eti on ' o f. st om a (h ~ c.i d,H &f iw N ic te r p yl or i- i n fe e l ion , 0r .u s e o f n o n s te ro i d a I a h tH n ll a r n m a to r- y e I r u g s: T h e 'in itia l tre atm en t o f a d uo de na l ulcer in vo lv es ;:d ria l o fa h Ys ta min e"2 b lo ck er s uc h a se ime ti d. in e . Ac tl .v a ti on o f h i st am in. eL re c e pt or s l eads t o i n cr e a se d - ~astrie ac tdpr.oduo-t i.on;Tnus, bY .i nh ib it in g t he . h is t. ar tl in e .2 r ec ept or , g a st rr c a c id sscrettun isder re a sed, al LOWing. he u IGer to " he .al.oi h e i treatm e nts : f o r IJ.I ers [m:o .lye.n hTbit in g. th e. 'H+-l1recep. to~s>leads~to inQ" t ropy 'and (hro.rn~t ropy. ~1Rec e p t o r s ' an {ty pj c S iJ y IQ : 8 a te dn t he h sa r t , 'a n d . si i tr ! u Iat.i0 n oJ tM re c a p to r s re S U Itsinincreased contractility. (inotropy) anti "h8'a 'rt'rate (chronDtroPV ). .. . .C is not correct ..Ac f iv . at ion o f W 2 : r ,e c .e p to rs lo c at e, d i n b lo od" ve s se l. wa ll s and,r esp i ra t o ry ep i the l ium leads.to V-a.s,odilat i'Onand eronenodnatron, res.pectively..D is not tom:lct: Ac t i~a t lQn Pfh :is tt l'm ine1 re .c . ep t o rs : r . es .iJ it s inpruritus,bIPn~. ,Q,oc.pnstr ic ti~on, .andinc. rea 'sed'nasa' l at :J '~ b'r :onch' fa lmuc' , (Js pIPd' lrc t iQn,

I j m 3 ' lit'! t o~!iVlmpath0lm:im,eti.csDrugC~.i~h@b:mi.l1:es

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T he p atie nt s how n is a 5 -y .e ar-o ld bo yw ith a 2 -y ear hT sto ry d fprog r8 ss iv e m us cle w ea kne ss .. This w eak ne ss b eg ani h t he p e t v i o g fr dl e , an d , af fe c ts l ar de .p ro x ir na l mu scl es . H i s ca lt c it cu rr rt er en ce. is unusuallv l ar ge g iv .e n h is a g e. an d h is~Dry'o fweakness. A b i. op -s yo f, his ga slr Dc nem iu s w o ul d mu st f ik elY 's hu wwh 'ic h d fth ~ f ol lo w in g?

1 0a ge c ou rte sy o j .J ma ge s.M D .A. F ib " rDfa t tyrepJac.em e lit o r m u s c I'e'fib.e.s .

U B.HYP .e t ro p h y .o f f a s t - tw i tc h wh i te m u sc le f ib ers\ : . . , . I c.Jncreased proportinn.of 'sWw-twi tch red muscle f ibe,rsU Q .. Ma'ssivE(~ecwsis9(al l muscle fib.er;su E . U nu su ally h ig h c ap illa ry d en sity,19

202 1222J24252 8n

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Fl;d1.rnJe-shHI~ mm l J l l ~ l i : 1 ! o n - - - , ' j - d ie 1 e ij o n o f , c l) i' s Jl 'o i P] u .~ . I] .gen I e ---7 OIoo~~erntedlmilJ lSclel :mea.kcl lo' l1 l I~.~Onse~b efo ~e ), )'eaJ[3~ Q f ag .e , \ :VeOl l lmessb e g : h 1 ! i brnpe]v~c"g ~ . ~ c H . e[ Ih ] se1E ' ,s and! ' j }[ogFeooes 3 IJ lper i ;or~y,.Pieudohypem.'J):pI ':!J}, 'QucaM- ;muaeles d i l ! . l J e : r o

Dl!.]clm,emli.e's = Dd.~re.d.D y s i b r o p M n . ,

.u;]ilg:I lloile ]ilm:scu],,[' dystl'o]JJhlesby 1 " GPK a ] 1 lc li l . !T I lL B de .

T h e cQrrec1ans.w~T i sA. The '. pat ien f: s; ti i' re : rs f rom Dr .r chenn :e~s~m~usCIJ lar dy "s t rophy,an }: :: ~l ih k ed i nhh itM d is ,8 "; 1' I, SFharac ter ized O'y mu: seu l; il r pseudph ipeJ tr p .p~y andWE!:;; lkhBS'S.Th e. p at ie n' t:p J c tu re :~ is " exh i 'b it it )' g .Gowe ' rs ~s /g n,E l is not eerreet, HytJe"rtrO"phy oHasHJ/lt itc n wh i te rnuSf IHibe rs ls t he .' g n a I o f a I I b O "O ybullrtsrs. Dm ing we .i gl )t l if ti ng :, t he easi ly f at ig ,u ed Wh it e f ib -e lS hyp -e .r tr oph y, r es ul ti ng ,. .i nthe: C ove te d :."rn0' n ste rb i cep s" and "wa s h b oa rd . a b s , " H y p e r tro p hy o f t h e se . f i b e r s is n otpEj,rt .orrnuscular dystmphy.tis no t to!m:lci: An i hHe :a ": :; -e dp lPPo r\ iQ n p f s lbw~t .. .v it ch r .e d ' fiQe -r s' can some times : bef pu nd a fte r< 1 d e!1 B 'rv ati t) :g in "ju f) !: Wh en th e r em ai ni 8' g n gn in ju re d n eN e s. re 'i nn Brv at8 , th 'e 'at rop .h ie dmusc le f i. ber -s , f i: ber -wpe . sW. itWing c an o cc ur . M..u-scul!3:rdy .s irQphy is nota prob l :eh :r o f de 'ne tVEj tion Dr reinnetVEjtion. ..,[Ii is no t correct. Massive necrosis O rm uscle fib ers' is rouncin r h .abdomyo lys ls . , wh ichis US I ,J< ll lyt he resu l t of


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A 2 -y ea r-o ld w hite g Trlw ho h as h ad p ers is te nt d ia rrh ea ; jio or g ro wth , a mi a c hro me c ou gh w ith th ic k m uc us p re se ntst o , a p h vs lc la n w ith p ne um o nia . C u ltu re s s ho w g ro wth o f p se ud om o na lo rd an ts m a.T he phvslcran th en , o r de rs ac .h lo r i" d :es fe a t t e st . Su b se quen t. g e n s t i C a n a I Y 3i s r ev e ; :is a n : au to so r na I r e c es s i v e a bn o rm afltv on c h ro m o s o rn e t..A t1~ jY3i,softh is patie :n f's sweatwo~ld m 0.s t1 i.ke(y reve;::tT? ,. .. . .viA. CI '>60 mE.qfLuB . . C J < : ; m rnEqfLU C:P I < 40 mEqfLl . . J D..CI= 0 ml:i:qfLJ E.) I= 4 :0,mEq!L

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A u t i O O O r l H I I - F e c e & > 1 ! 6 defed ~[1CPTf i t ge]lle-Olm . [ n r e i l ' i t n : ] i t t y hi 'l ln~lles d i t ] e ' t~ : a : b O O i r ndli[:IDtm.D.!iO~i 7. D e f ' e c ' , t i ! e Ck~~:nl]JJd. --4" ~e8re~Jo' tJrn" '?1i c l f i f a e l 1 l " 'R"ltf :-so]uMeof 01D:normal]y tihkk. m~l(8W t l : i i < l t ph.ilgl Jl.!lIDIgS.,

The ~or'r~d answer is A.Whe n p ~ e:2e n(s i n c,e .O J rth, rcecurre nt ! ung' i n f ! 3 ctions (e g.,.with'pssudomonal Q(gsmis ' f1: ' is)and cf ige.s ' t ive. abnorrnaiitiss s:uc~as panc rea ti cinsuiff i {fenev- (c,au's"n,gpe-rs is te.nt di : ,mhea .o: (steator rh.ea~'sugg.est the-autoserna lr ece 'SSive d ise ase knoWh as c y st 'i 'c f ib r os is . I n t hi s d is 'O r de l, a 'mu ta t ion i rr the 'CFTRpretetn on ch romosome 7, .w hic h re gu la te s C I-flu }(, re su lts in h lg h 1 2 1 - concentrat ionsin p atie nts ' s we at, a nd a c hlo rid e s we atte .s t is G Ja ss i:c a,lly dene.tusupportthe, ,di60,mEq/Us t he.Dn ly ansWer ( :- hD ice , g re :a t e r- th< j ,n norma l (ltDmEq/L)an d isthus th e b es t o pt io n.' C y st ic f lbmsis is'th'e: t 1 1 0 . S t comrnon l eth a l g en eti c d he as e.o f ( ; a :UG;i ls; 1 ' l hs.

B is I 'jot C O i r r e c t : Wh il e> 2 0 'i .s a n abnorrr ra : ( h lo r i. c j' e va l .ue , t h i. s . ~hange is ' ih . the .w r o r Wdirect ion.C is not correct. T hi s v al ue ls t oo l ow .'Dis uet eer ree t , Bec ,ause :. p < ' !t ie . n tswi tH wi ti c f tb ros iS - have-r rr o re 'chLo ' rf deTn the i rGW8,at thannorrrral.D ch l, or id e w9 .u .l d ' h . e ' a qhang8 ' i n t he I N ron ,g ' d ir .e c tI Qn .. .19

2021222J24252 8n

E is not correet, Al thou 'g : ~ , some p.a t, i' e !1 t s .m ay h!3 ve . a norma] s 'Vye-Sl! te3t,and while t~8.swe:attes:t tsnut nee 'deGHor d i -agnD-sis ,' (Qne can ana ly, 2 :8 t he'g -enes }, t h is ~ues t i'O t' !a s ks f or ct he mos tl ik 'e ly . r e' Su 'l t H i gr l' ch lo ri de ,c oncent ra ti ot il s i n sweahwnst it w te th - eelasslc associat ion.------------FI!RST AIID

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34:J678910111 2 "1J1415181718

An 8 :ye a r- . ol d boy is b rQ u .g .h tto-his p hy sic ia n f or s ev er e paln i n hTs le f t. ank l e: He was on the playground and w ent to.k ic .k :a b all w he n h e.h ea rd a c ra c.k in :g s ou nd a nd fe ll to th .e g ro un d. H is le ft.a hk le is te nd er a :h d s w o.lle n.8 en sa tio n a hdmo to r ' st r8 ,n g th i n t he et oo ta re tn ta c t; h uweve r, hehasreproouclbtebonv p ain o ve r th ~ h \i9 fd O fth ~ lT fth m e ta ta rs al. T he ';child's pupils ar,e-reac tive to I i 'gh t , but th e sclerae havaa bluish't ing.8. His mother adds that her-sen had a humeral. an d r ad ia lf ra tt ur .e 'i h r he 'p a st 2 years: ., :Anx-ray film o f t he f oo 't c :o n fi rms a f ra :c tu re ' c if th e f if fh 'me tS tt ar sa l. )I l' ot he r' .ia bo ra to ry re su lts a le n or ma l W h atis .th e cau sa o r fh ls p atie nt's 'd is ~e as e'? ' '- ~ ~ - - - ." ~ ~ - 0 - ~..J A. Abn or .ma t t yp ei c ol la ge n s yn th es is.) B..Abn'OHY1aJype IV co ll ag e n s .Yn th e si ,u C . C lo na l p ro life ra tio n o f p la sm a c ellsu D" D eJe,d i n hyd roxy la f i o n of p rul in Eran d Iys in ev E. De fe c to ff i. brHUn synme .s i~

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678910111 2 "1J1415181718

Tile eerraet I'IIlSWelris lA .The pa tFent .' s b .l ue s~l er ae a~d h is tO ry ~ rp .a th ol og i. c:Jra CtUH% with mi n irn a I tra Um ao a re c h ar a cte r ist i c o f'o s te 0 g 8 fl e s i s i in p e tt e e ta . .a-c on di tio n',th .a t i s c a us eq b ta bnmmal s Yn th .e siS o f ty p"8 I c ol la ge -n , a major'compunento f b on e . .T h"i s g e n e ti c l lIiS 0 rde r Ie ads to d itru s e tD on e we.a -k r Je 5S arl d.bY itt l.enes S.,Th eelassle s i gn oT the d ls ea se is - blue sclerae: which Is cjuMotr.ansl.ucenh.onneeJive.f i ss ue .o ve r t he : c ho ro id . B one h .i s to lo g y w il l' re li ~, al a a .i so lg an iz .e d, w01i en pat tem :Mo r ~.th;:)n : 1 Q 0, . .9e t ) e iT t. ut ;: )t io n s : h.a'o)'eh .e en ';1'I_s"S'oc~ tM wi th .: o ? t~ : o. 9e rWS" js: imp,etfeci a .:B is I 'iot c O ! r r e c t : A de fe 'C t in t h'e . syn thesis . o .f Jype IV col l- !3gen is. associ,ate 'dwithEh le ls -Oanl os s yndr ome , Th is sy nd rome i s. char ac te ri zed. b y" li y pe re xl e fl .s i, tD le s k i n . .a-te n d em y-to b 1 "8ed, an d hy p e rm 0b i.1e 'j0 ints.Cis uotcoereet, A - Glonal proli fe. r .at ion . .o J plasma cells results in r t1 l :1ft iple mYe. !Qr t1


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15 V A. Adu l. t P9 I yc.~s .t ic . k idn8y d ise .Qge18 v B . Alpert's syndrome1 7 J C Ehlers-Danlos :syndrome:18 UD. M-atfan"s' svndrome

34:J678910111 2 "1J14

A p re x -: i0u .s ly .h ea lth y J O-y ea r-lJ ld w om an w ho p erfo rm s a s.a c en te rtte nts ttn th e c irc us is fo un Gi u nc on sc io us in h er:. dr es s ih g- ro om . B y th e. tim e s h. e r ec .e iv .e s me dic al a tt en tio n, s h. e cannot be r ev ive d . .An autopsvls pertormedandanabno rma li .t y) s ' di sco ve re d i n t h. e c ir c[ e ofW il Ji . s , as .sh own i n t h e . ima~J.8-.The patient.,was also rep'orfed to haVe.ah is to ry , ti fe ;a sy b l, ui si ng '


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678910111 2 "1J1415181718

--------F 'liRS ,T AI ID '

The ~or'r~d answer is t.Thi,sim,age depj .dy; :Jl )~er fy" ; :; I f. reuN,sn i .. Berry a:n .e'ur~ ismsh; :Jreco hgeni ta l' an d ' as 'sn cj at il ld 'w i hs :e ver 'a l . s' yh ,d r9mes . I n t hi S' p a t i, ef lt , . .h e .combma ti on 9 fE ) b e rr ya nsu rvsm , wo rk a s . a co nt or tl on ts t ( ie , h yp er e> ; te .n sFb .l e. jq i' t: lt s) .,n d a h i. stO .r yD fe aw b ru is in ~ a 'n d b le B din g - su gg es ts a c oll ag 81 'l e lis or de f, s p, ec if ic .a lly E .h le ~s ~Oa nlo ss yn dro me . E hle rs -D an ln s s yn dro me is a g ro up 'a d is ord er s,re su ltin g fr om d ,B f8 cts inco l. lagen syn thes 'l s andpmcesslnu ..A lt ho ug h t oe ilI efe ct s a re ma ny , , th ey h av e,c ommo n s ymp toms, i hc .lu din :g h yp er eX t e. nS ib le .s ~l n, a b le ed in g t en de nc y" a ndh yp ermo tiii e jo in ts ;S o 'm8 'f or hr s a re a ls o. as so ci ,a t~ ({ wn h b er ry an eu rY sms ,.

. : 1 1 . is net' iI:(irr~.GtAQlJ ll pdJyc 'ys t ick idne .y d i s:ease lsa's S 'O c; ia te d wi th pJ,ogr'g .Miveren.a :1fa i Iu r -e , mi t ra l va lve ' pro l '! , iI : )S,e ,and. berry a ns urv sms . .I t i s ' not . ~rssocia tedWi thhypere0efl.Si '~i l i ty o r MJisin .Q.. . . . '-, .- -B is not correct ..AI ports synd ro rn e .; ls ch ar ad e ri ze ;d . by r l !~ .p h ~i ti s, h e ar ih g l oss , a n dev.8 d l s orde rs. A l th 0u gh if (s " c .om rnn n Iy in h e ri te d i ;n an M-iin ke d pattern; auto so r na I

dominant and rec .ess iYB inhe r if anc.e .has j) een exh ib . it ed, .A rpo rl :f s~syn ,d rome isnotass .oc ' i; 3 ted w it h ' U te bove. p a tho l, ogy .[Ii is ,'iot'correet. M.a rfan' .s .Synd r.om.e i s assoc i: ;r t ed 'w it h b .e-Hya ( le l ;J : tyBt -r I.S ,hypere0el' l s i '~ le jOin ts, and.cardtcvascufar te st on s. Mu co t. ut an e' ou 3 b le 8d it ]g a ndb ll J i:Mn .w .a r8 nnHrequen t ly . seen wi th 'Ma tfan! s svndrome; E hle rs "D an lo s s yn dlOm e isa be tt e r a n sw .e r.

..192021222J24252 8n

E is lli{ln~orre"C{.Osteog.enesisTmpefrecta { O I Y . i ' s ' C:h_a'rotdeii te'db,yrriulf ip.le:spO!1ta .neDus 'hpne-f r; :J tture 'p , re tarde 'd wpund h!3a l1n ,g~.andharade 'r ' ist i~ :a l ly. b lues cj :er 'ae:: . ) !IJ th ' iJLJghs u:se:~,by'defect ive, c91I :ag.e t 'Lsynthe.Sis', .ons npt ;a :s S 'O c;iate dwithbe.rry.aneurysms.

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2 3 : -2425 .26272829 .303132'J 3 : -3435 .363738J9.404 14 2'n4 445 .464 7

A J 6:y e ar- .o ld w om an r etu rn ed fr om a tr ip to Ja pa n 2 d ay s.a go . Y es te rd ay s he s ta rte d e xp erie nc in g le ft ealtpain, Th ew om an is s reb rn e w 'ifh a h ea rt ra ts .o f8Zimfh, enlood pressure of 129 /86 m in H g; a nd a re sp fr atd ry r ate . o J 1 ~Vm in . O nexamina t ion ; t he p a fi ent 's 'cal rpa . in i s foqnd to i n ten si f: l: o .r Jdo rs i il e x i. o .n 'o f" t he . l: e ft f oot .. Suspecti n 'g a d ee p v en ou sthrombosis (DVi), the.pHysici


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' 1 ; : is not eerreet, V; i 'I , s t: " i.J la:rnd'oth!3l i ;:J1 growthfa.ctol0/E.G-F) ' is '; :J.substqhte . t l' I 'ade. "O 'v,c e1Js 'h.at s t i m u I:ate:snsw.b Ion d ve,~.s'elfqrm~ti o n . T h e . bi n d in g o fV E "CW t u r n S" o n th e .r .ecep to r s , wh i "t h t~M .gen8" r3if~ '.s :ig~a, ls . ' ins ide th 'e cel l , U. l t im~lel.Y'. !ea~it "!g. tot~e.gr.owthof new b ro o d ve'S s e I s . A lth DUgn th i s g rd wth fa t to r m 8 y be el evated at t h e site ' nfth eclotltls notas abwnd;antasthromboxane-A2. '

Theeorrectanswer lsD,T hi's p atie nt's lo ng a ir,p Ja ne .lli'g ht p la ce d h er C itanlncrsased.ri"sk.6fdeveJo.ping deepvenous thmmbo.s is (ti\fh. In a d~ iti oH ..t he .p at le nt ha s apos;it jve Horrrans' sign (c,aif ' pa in .o .n ' dc rr si ll e~ ron ). , wh ic h i s : seen' i n s ome' .p a ti en ts w i tha ovr VirchQV: ;' . sk i ; :: td ~efe: r-s 'tQhree' fO lctors: that pret l. i~p:Q?e a 'p 'atlent to.de.\ ie lqpjng ; :Jve 'np u S" tnf9 m'M: := i.s : (J). 10 ; siI . 'tr 'auma)oth;eHe s:s:eI wa I I , . (2 } s ta 'S is , a n d..(3)hype rc uagu la b if it y. Th rombm -; :a .( Ie ATs timul 3l te s u r aJe le t a gg, rE tg .a J io n andvasa c o n str i c tt o n a hd will be'e ' leV


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.,__)A. Ad ult Po~ycys ti c k id n e y d .is ea s eu B . . F am iI (aclhyperch 0 1 e s t e r u l erniaU C FarnillalhyppchQI"89t~ro lemi .~l . . J D . Famir ia lhyperchylomlcr-onemiaJ I S . M


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25 .26272829 .303132'JJ3435 .363738J9.40414 2'n4 445 .464 7

E li is not cerreet , Famil ia l h~perchol,esterolemia lsan-autesomal dnrnlrrant-eondltlnnc ha ra cte riz ed b y a n e le \lC !te a L Ot a n d to ta l ch ol es te ro l d u e. to Gle fec tive o r absen t LOLr ecept or s: Pq tf en fs can h av e h e-a rt a ttq ck s a t a y ou ng . q ge .q nd m ay a ls o h av e,te nd .o nntho.mas;

n le corr~-C13nSWtBris C. Fa rr 'i il i' a: ! h y peTcho le s te ro lem ia i s an an tn s oma l dominantc on ditio n c ha ra cte riz ed b y e le va te Gi L DL .a nd to ta l c ho le ste ro l le ve ls d ue to 'd efe ctiv e o ra bs en RO L re re ptQ r:s : P atie nts 'c an h av e 'h e~ arlattacks at a yqlm g a ge and'm ay alsoh av e te n.d 0 n.xanth 0r na s . .A..isnoteorF,l:lct. A d u i t polyc"ystic k i 'dney 'd is .eC!se: is 'a 'p il ,ateral, massive enl,arg.emento f th , e . k idney 's du~ to :. i' :h ;Wlt ip l ;ela rM cy :: ;t s . Pa t ien t s iJsu ; 1 ll lyp les ~ t1 t w i tt /p , ~ 'in ,h.e[h stu r ia, hYper t8fis . i'0 .n, C!ndp: f9~gr i: lsgiveJ86al f a i ' l u r e , The .c .o.nyt io n ' is' C!S:: i,ocjlte.dwith b .e-Hyaxieuty,sn1 .s.. . .

."not correct. F a m iH a I hyp erehyl)o. r i liero.ne mia' ls : c f i sra t te r iZ i :ld' by e leva"t i: ldI . . . n o t cho les te ro .l ,' in bLooOLI ti s .caus ,e d by -iFpoJno teih l ip . as ede f lc . iewy .

E is no t oorreet. M atfa n!s s yn dlO m e is "d ue -to a. f ib r> i ll in gene mu ta ti on , l ead in g tos ke l e ta l ie a r d jo va s c ui a r , a nd 0 c u i a r a b n orm a l ltle s, b ut n ot to ' d e fe cts i n t ri g lyc. e rin es,

- - -- - -IF 'I IRST AI IDAutQS0.mal~d~mhlant diseases

A.d.ll!.li~.~Jolycys~k kidney AJ.\ ' ! ' l l} 'B h i l i l i . t e r . a l . ~ s . s i v e eFlb[ 'geFUiJ.a.u t t ' ofk~olt;Jeysclh.ll.e to Ioulli l~e b u g e c}'sb., P a t i i . e 1 l l i 1 t 5dI~3ease I ) r e a e m t t w~~~p:;tU[l" hemarlt l .J ll1L:i ,~~'J'erteIl1iSlj:m,;i'l'og~esSi",-e Felu~.l]l.l1[e. 9 0 , % of c a , s _ e ' : ; .

:;Jj~. dll!.lie~o n 1 l L l t : ;u t t i o : m ! ill1i.AP~lc ( c hm l J i r m : S t i ( [ J l i l e e 16). Msodai te:OJ rntlhpo~~'Cy,stlc..l~.e,~c1:if;,ease,b:trr}' 1I1:1Iel:ll:J~:. m~bra.~v ~lve'pro~aiPse.fftl\'elril:~~.e.fu.m:Iis Eecesci:V.e.

," lIIlI1 in_M a]E le " 'i3~d lnL owi: ll lg to ,de .fe c;tt~ v e :ou :3 ,]bs e ;f1 tD:n.. .reGepmr, HetemZ}'gl lJi :es ( l50G) h av ehY'Pel'cfuolle8teru~emla cholesterol. = 3 : ' 0 0 JM lg /c l t. lR omoz} 'gO t te s ( v e Ji }' t ,l Ir e ) E ! < lv e d ] )C I~ .e s re ro ] = ' f o .C1 t - l i i l l l g r d l "

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2 3 : -2425 .26272829 .303132'J 3 : -3435 .363738J9.404 14 2'n4 445.464 7

oJ A. G!ucose. . . ._)B. GlycogenUC . oxaloacetate.,J 0..PYnJvate:v E.Urea

boy is brouohtto the pediatrician by his parents because he h.as recentl y lost the ab ility to crawi orhold hls toys. His mother savs .she tookhlrn to th.eeme.rget;Jcydepartment Jast .week because he.was wheezihg. H ewas diag.nosed with a c6Idandgiv~n'an'antihi.stamin:e, which did not nili~v~ his,.symptoms. On:e:::::aminafion, the'.patie;nfLs tachy~t)e-iG:and 9reathingwith cnnsiderable 'effort; theliv~r is parpat;il.e:tiv"e."fingetwidth,s belowtheJighl co;sh!margin ..}H'ay f irm .orth.e chest rEiY"eal.sc:ardibmegaly ..He has adiff icult t ime' sit ting'up'right and cannot s:queeze the

" A - phy"~iCian's fingels,ortheri.qg O f his' paCifier with any ~9tiCeable forcEr_Oes~i.te a number 9Jint~fV8"ntio~s".t.h~ child'ssymptoms continue to worsen untl lh is de;at~2"Weeks tater. On autopsy, i t ' is r ikely th;at this pat ient 's cel lS wil l contain-an accumulat lon-orwhtch-or thefollowin"g substances?

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53/97

26272829 .303132'JJ3435 .363738J9.40414 2'n4 445.464 7 The~ : Io ' ei b o c , o l E L e . ! ! a m wwd e,t n " ' T h ! \ : g jbowIHt)

The correct :answer is B. Th is -, p'


54/97

A 53 :ye a r -. ol d man comes to h is phv sic lan bec ause he notlced blood in h is urine and has been hav ing s om e .Iowb ac k p ain . P hy stc al e xa Jn in afio h r ev ea ls p alp ab le fla nK m a ss es fe lL bH ate ra lly a s w ell,a s m iL d h yp e.r te ns io n. B as ed o nth ~ cllhical flndinqs, t he ' pJ \y . s ic i ~morders a (T sca n t o a i' d: :i n th e :d :i ag n 0si.s(as'.S.ho.Wn'.n th e im a ge ). W h ic h C ifth ~I . i h g _ C :o 'n di tio nsis also.assuciated with this disorder?

272829 .303132'JJ3435 .363738J9.40414 2'n4 445.464 7

V A. Astrgc.ytomasv B . Be r ry a n eu rysmoJ C Dark.urineU D,Op tj c n e rve d e g~her at io nU 1 : : . "S .quamous ce ll catclnoma

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55/97

2829 .303132'JJ3435 .363738J9.40414 2'n4 445.464 7

.E is not correct. HqUamDUs ( 8'1 1carcl rromats ssen i n in cr ea se d i nC id 8n ce in f' ia tie nt sw ith x ero d.B -r ma p i~ me nto swm , a n a uto so ma l re c es siv e d is ea se ,c au se 'd b y ad enG ie n cy i n DNAJepa if o ft hym i" ne ' dlmers,

Tile eerraet 31lSWelrs B.Th is . p 'a ti en t h a s. adult po .IYCysti c :k i dney .d i@ase , ansutrrsoma: e lominan t. condHio n ch 's racte li ze ' (j b y r r1S!ssi ve 'bi 'l at e ra l c ys- t- sf l thek idneysa s w ell a s t t: Je liv er . T he r er ra l c ys ts .c an " 8vEi. nt u allye ad to e -n d- stam~ r 8n al. d 'is ea sR ' r nad.d il i.on to th e . cy sts , p a tie n ts a re mo re - p s on e. to .b e r ty a n e w ty .sms , wh i Gh ca n r u p tu rsand le


56/97

2 3 : -2425 .26272829 .303132'J 3 : -3435 .363738J9.404 14 2'n4 445 .464 7

. . ._ .j . A . A cro rn e g'aIy> O J B.X:-retini:srrt,_) C, HypertensionU D.Hypoparathyrciidtsm

E. Renal osteodystrop'hy

A JO:year-.oldpatient previouslv diagnosed with pheochromocytoma comes tothe phys ic ian to explore the possibi li ty.0 J other endocrlnedlsort ie rs . On physi.cal examtnanun , the patie.nt.is foundto hav e -a .solitary thyro'id nodule.Lab:or.atory.studieS'shoWan increas ed'serum calcitonin level and a pent8ig.;;;fstrin".induced ris~ in:the secretinn.ofblcitOhin. Abiop:sy confirrns the presenceofa m'e,du!lary thyroid carcinoma. Thepatient.is scheduladfor a total. 'd.ectbmy.JlVhfchof the. loIIQwing is. apotennal c;omplidtion dfthistreat"mE!nt? .. .,. .. .. .

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MEN~e[ (We~ 'm~m"ssy~~~hol'1~.e)-IJa~cre2IB( e " g ., ~ZO]~~l~ge~~~U 1sOirn .~.yndFDI~e. :il]si!i]~llom:3.cs,V]Po~nac s ) , pa~ . a .H l} '1 i ouc ] ,.n d piru~h.[}'tulmQ["!J,P E e ~e n ~ . 'M ii :h 'Hd~1 : eypt.e ilJ!e ~.aud ~'ton.ad~kers ,!I,.[]im ~ . J e ~ ] : (SliPll~.iss y m c l w f ! l t e } - - - ' t r m J . e c l : u l b : q r~a[Clnbm'Ui ia.of II:Ihehlhyrcidl ,pl l :teoclm:nTI10cY~1ma,p a .m tih y ro iO lMm lO F .

MIB:,N I t! ' iP em (~0 tm[1~r l} fM EN ] Ib~-mecl ! i! l . ' ]~~IFYc a J [d ~mIT , l! 8 J o f ~h~~zy:m: id , pheOC"'I!D)m}:Hqi~CJI[ ' jBl. ,and or,a].and! ~~]t-eS.t]ill]g~.tI.gt~~ru.el!]l.om:3ltp~~j.

The correct :answer is D. H yp "o ~a ra th yro id is m c an o cc ur if a ll'o ftM p ara th yro idg ! anGJ; sa re acc id -ent a ll y .r emo 'l fed "dur ing . to t a l t hyro id -ect omy, Hypopara t hvr .o id ism ca r rl ead t o t: l. ypoca lcem ia a l: ) d hype~phD;3pt iC ! t em ia . Symptoms o f h 'ypoca lcem iainc ll Jdet in g li hg ,o ft he .l ip s j hd d Ig it .s < l, ndmus cl e s pasms,:1 \ is not to!m:lci: Ac ro r negai y i s G " ;1 ' IuS 'e .dy an : ex c es 's o f. gr o' ol \d ;hhorrncne.ln-aduits- I t is :notasi.de.ef t :ed'9 f - thY~9 id e.ddmy" ..... .B ! is n e t e e rr ee t, C re ti n i sm is th e term Use d . fO r'feta I t :1Yp"othyro'd ism . Cret i h is m cat ')be ca u ss d by e ith er ad -e f8 c t i fil thyro::


58/97

2 3 : -2425 .26272829.303132'J 3 : -3435 .363738J9.40414 2'n4 445 .464 7

U A. Biopsy ofthe gorad~ reve~.ls. the pre.sence:oft~stieula:r t issueU . Chromosome analysis shows a 4 7 ' ; x X x karyotypev C End.ocrihology.te:sts r~v~a,1'a 5~a-re.ductase,defi('ieticy.,_) D. Physical sxamlrtat lon rsvealssn enlarged clitoris' and'partialJyfLJs'ed lablnscrntatfuldsU:: . R.ad' iographic examination. shows evldence of.ovaih,n dysgehesis'

A fu lhterm newborn gi,r lis noted to be hypotens ive at b~irth.Uespiteint raveno.us flu'id support, thehvpotenelve. During the.medtcal work-up, the folloWihg data are nbtatned:

N , a ' t - : : Tn m E ; ' q ! l . . ,K +: 5 ..5 ' mEq{LU~:.92 mEqflHC03-: 18 mEqfl.17-Hydroxyprogesterone: N nm-oi /l (normal 7'-45 nmolfL). .

Which oHM following is incst j 'ikel yto be round on. fu rther exarntna tioh ana wo"rk-up?

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26272829 .303132'JJ3435 .363738J9.40414 2'n4 44 5.464 7 IPsellJdobel1maphrodit" 'sm

Th e ~or'r~d answer is D . Thepa by,?uffe~s'"frp rn..21- c l ; - nyd{D}: ; ila s e: d elki.e ncv, ' th 8' rnoitcommon caus e ., gf cD fl gen il al a d renal ~ y peq :r .I :: :t si .?andt hB unde 'r ly in g c aug .e ,q tt heg i r l 's V i ri n s rn . \ !Vith'otJHu n eti 0n in_ g 3.1,0:- hydroxy l !3 .se , t he p+e-cu rs o r m ole c ui e 17 -hyd fo vp rOg :e :s te l' one ac cu mu t at es . 2 '1 , -a ~HYdr.oXYla:se~deficiehcY"a ls o c au s ss s al twast in g w i th h ypo te -nS iO "n , h ypona tr em ia , and hyperka lem ia . Congen' it a lad rena l.. ., . . ';. .. . . . '. . .'. .t:lyper,pJaslals a . common cause o ff em.a le p . s, eudQ :hermaphr, od l tl .sm ,a .co rJd lt lon l ti lw h ic h p qtfe nts m a y h ;;l Ve ;:l mb ig uo l: ls , g eo it; :l li a b ut h ;; lv e a 46",Xl{kary,otYpe.A is no t tom:lct: In t rue h~n' l\ ap~ lo d it is _m, bo th 9 va: ri ): ln sndtesticutar t i?,s l,Je can b.ef pu ndw it hi fl t he ?gQn ad s. H qwe ).l e' r, ' in 21-q chydr px vt as g de fi ci ef fc y. , t he OVG ir i~ :s 'M ve' I" Op~o. rm!3l ly ; i l is .i the adr .enalgl~~dstho1t pus,e tM~male~IOOking .genital}a. .,B i is not cerreet, A 47 , x x : x : 'K'atyqtyp e WClU I'd~not-es 1. 1 se eon g e ni t a I adrsn 311~yp e rpla s ia,, . '. . I . ., .saltw asting , o r pseudehermapnroditiarn. M os tw orn en w ith en extra X chromosomea re a sy mp to mq ti:t; in e xtra B arr b o.d y can be seen mic r, o, sc. op iQ IlY ..tis no t tOi'n:lct: A defici!3nc'y in5-Cr-r.educt 'a:seis'a causenf rrlale"p s e u ~pherm.ap.hro d " i t ! s m 'a A d' j sal.s' d kn o w n 'GiSb ~s ti c I,J Ia r fe[h i ni I~ ti Qn syn:~ r o m e~A 'l ack ' o f . 5 -. (H 'e 'duc ta~e r rr ea, ns t h'o1 ttestnstsrune , canno~ .be. conv.er te 'd to.' ,d i h yd ro te s to ste ro n e ; th e n ee e s s -a -r yh o rm o n e i n 'th e m a s c u I in iz ati o n o f g -e ni ta 'l i a.. ", .E i:s n o t e o r re e t, 'Ova r" i a n dys ge n es is , th e "stre,a-k ovar.y::h f o u n d rn Tu mer'ssyndrome.(45,XO); ltdces not-cause.S';: llt w.ast ing. or y ir fl C sm . Pa ti en ts w it h Tu rne r' sp 'resenfwith '.po:or ly de. \i :8i:op.ed secon'datY,s.e~u~1 chatacterlstlcsand arr(enoJrhea,.

Dis il ! g r e e~ .n e ] ] ik ' l be l :we . e l l~ . e p1 e i I iJo tm jc (eKte:m


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.,__)A. And rog~n insens i ti v it yuB. Defi 'ciency,in 5 co:-redu.ctas:eUC~ma le pseudnhermap ;h rod i .t isml . . J D . Male pseudorrermaphmoitismJ IS .Test i cular feJ i li tJ i~at io"n syn,drome. '

A b ab y b oy ls b ro ug ht to th e p ed ia tric ia n b y h is p are nts ..O n e xa min atio n; h e " is f ou nd to h av e a s m all p en is " a nd h istestes-are IOGOItedn ih e i ng u "Jnalcana l b i ta t8 ra l ly . .., pe lv i ~ u l trasound connrms c ry p to rc hi dt sm . ; a nd n o uterus isp re s e n t. A t p u b e. rt y ,.t he e eX t e rn a l' ge n it al ia b e came r n ascu ll ni ze d . .VVh i" cn: of th : ef ol l. ow i n g i s' t he emost l iRe ly d iso rd e ra.fFeetingthis patient?

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"E is 'I1!lt correct. Testi:t.uJ


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A 3-y.ear-old boy is brought to his pediatr ician with dif ficulty breathi'ng and.wheez lnq.His mother states that he recentry,had aco. ld. the' boy has-a heart rate.of 85/m'in, a blnud pr.essure.of13DrS5'mm Hg, arespi 'ratory rateor 2Q/mfh, a;hd .an'oxygen .satu'rat iorl ofQ4%. Thsbov appears tobe h.avingdi fikulty breathinq, and 0 11 lun.g:e:::::aminafion, Wheetingbri):Je' hea~'d bilater:ally.throughoutThe.boy's mo th e r adds mat he.had'sim"il O J B . le!.ikotr"ie;he"84,_) C, LeukotrieneC4U D ..P.rostaglandfn 12

E..Thrornbcxane A2

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Lfol' .Upo)(l 'g,en.:ls andL e l ] r omea l e .

The cQrrectans~~r is C.Th iS ' ( h ild has t he. , symptqm 'vo f asthma. L'eiJ,~otr iene:(Lljc'{ LTD4 , andLT~A ;1 'I re(~lPhc;h.ocPhst r icto" rs an.d 'are 'b:eliev~t I to.eontr ibutetbs ym ptQ m s ci a sth rn a. y 5 - Li P60ge na s e i.sth,ee niym e t ha t C dnve'rts - ar a c ~td'ohi,c at jd to5 - hy~dropeToX y-e i c o s a ts tr a ~ no i" t .< i c 1 . 0 1 ,wh lc hi s ' th en . u, sed t o ; P W d u c e IE !u k o tr i e n e s ...I t Is not correct. Gy e 1 0 ox yge nas e '(8O}:)i s- th e enzvrne ' t h a t -cats I yz e s t h e f o r m s n on ofp ro s t a g . lan e ll til s, ttl romb oxan .e , s, a nd pr,o.staeyeIin S., N.on s te r o I da [ 'a n t i - lntla mmato ry .drug s: , :'c 'OX- '2 'jn h i mto rs , a nd a 's p ,irtn e xe rt th e i r eW ec ts b y j n h iM in g 'th e . .( ye I0o x y g e n a s e:.p~~] d < I!~ega :h 'Q ITI t


64/97

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T he .m u sc le s th at c on tr oi t he d ia m ete r o f t he p up Il a re tri"g ge re .G I by . a c as ca de o f m o le cu la r e ve nts w ith in a m us cle c ell,W h aO s th e fu nc tio n.o fth e e nz ym e a ctiv ate d b y th e c a l c t u m - c a t m o o u h n complex?V A. Bind ing to troponln. ._ ) B . .D "epho sp hor y la ti on Q f a c t inJ C De~ho_s 'pho ty l ? ti on o f m' {Qs inU D. Phosphotvlatlorr oractlnU 1 : : . Ph .o sp ho r yl at io n o f mvos ln

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65/97

2 3 : -2425 .26272829 .303132'J 3 : -3435 .363738J9.40414 2'n4 445.464 7 ------------FI!RST AIID

T he .m us cle s th at c on tro i th e d ia me te r o f t he p up Il a re tri" gg ere .G I b y. a c as ca de o f m ole cu la r e ve nts w ith in a m us cle c ell,W h an s th e fu nc tio n.o fth e e nz ym e a ctiv ate d b y t he c a l c t u m - c a t m o o u h n complex?V A. B ind ing to troponln. ._ ) B . .D "ephosp ho ry la ti on o f a c ti nJ C De~ho_s 'pho tyl ? ti on o f m' {os i nU D. Phosphotvlatlorr oractlnU 1 : : . PhD sph or yla ti on o f mvos ln

Tile eorreet answer is E .. Thecarctum-eatmcduiln c omp le x a ct iv at es mYD sin fi gh tchatn k in a se , wh i{ h p :h o sp h "o rY . la te s rnvosln an:({alfows lt t c b ,i n: dtoactin, i e :i d in 'g to 'c o ! 1 t ( ; : l cti 9 ! 1 ' and s ho ft eh in ,g .o fJ h! 3'musd e f ib e r, .A iSlnot correct. In srrmottt must.le, ,ul'llike sk.e.1 ta I muscle, t her .ei s .'no t ro .p:oni h .Ihstead;.calc ium is the r~rgu la tor o f m y-os-in on theth ick filament. .,B is no t correct ..f l :cHn is not p ho sp ho ry la te d o rc ie ph os ph ot yla te din t he ' c on tr ac t' io nand r8 iaX


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. . ._ .j . A . a 1> O J B . @ 1,_) C, ~2U D.Hlstarnlnef

E."Histamine2

A 5 -y .e ar -o ld b oy .w a s- p la yi" ng o uts id e d urjn g r ec es s-w h en h e b eg an t o e xp er le nc e d iffic ult y b rs ath ln q.H e w as b .r ol.J gh tt o h is p h vs lc ta n b e ca u ss .h ls svmptnms s e er ne c t o. .b e. g e tt in g wo rs ,e . O : ne x ar nt na ti oh , t h. e p h ys ic ia n n o te s that th e b o_ yi s. st ru g g li n g to b re at h~ a nd h~ea{ sd if fu . se Whee ti n. g b i. la t er .a II Y .H i s h :e a rt r a te i s 9 'S/m in , r e spi ra t ot Y ,r a te i s) 4 . fm i n ,and oXyg en- sat l. l( al io n i s 90% . H i s past medical h ii to r y i s' s jg n h ic ' a" n t d n l y. fo rseasonal aiJergies inthesprinq ahaM i ld e cz ema. M ' ed ic at io n" fh 'a tb in d s' ,t o w h ic h :o fJ h8 'f or io w ir 4 re J. ep to rs 'w fll a ll ev ia te t his p .a ti :E !n t- s. symp toms? .. .

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2425 .26272829 .303132'JJ3435 .363738J9.4041U 1 0 1 1 $ 1 0 t Q

The eorrectanswer is C. T hl's p atie nt is e xpe d.en ein:g an a cute.a sth ma attack Ina :ddl ti on , t t: le pa ti en tl i 8 :e ly h SlS a to. py g ive .n h is' P ast m e.dicaJhistory Df eC Ie r na an dai_jergie.s.Tp3E! fme,n.dof an 'O!cute '( j9 ih 'ma'at t


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fA U:monthcold ,boy is admitted to thehos'p.ital with .a broken tlb iaTtrlsls thHour th broken bone the patien t hassu sta tn ed ..O n phys-ical examlnat lon, the pat ient is round to. have mul tiple poorlyheal fng.supeffi .c ia iwQUhds on hi:san:ns'and.legs; hs also hasabl.ue. tintto hissc lerae. The pat ient is subs:e'quently dtagnos8.dWith the most commonof thisdise ase ".Which ofthefoJlowing sefs.of'tissues \liould most"rikejybe 3!fFe.cte.dn this patient?

.,__)A. Blood vesssts-sktn, uterusu B..Bon~, interstitial tissue, cartilageUCone; tsndons, skinl . . J D..Cartilage, blood vessels, vitreous humor. _ ) I S . . 8kin, c.e,ll.u!a:rbasement rnembfa,ne, ~Ioo~ v'essels

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69/97

272829 .303132'JJ3435 .363738J9.40414 2'n4 445 .464 7

D is no t tOim:lci: l "yp:e I I wl l .agen ' is 'p , ri 'm.ar iJYf i: !u rfd i r i car t ilage


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A Z9 :ye a r- .o ldwoman who i s 36 we ek s p re gn an t presents to t he eme rg e ncy department expe .r iene ing con trac ti onslhatare ohly 5 m in ute s a pa rt. S he ls . someWha t d lstrauqht because her nrst piegna;h.cy 2 years ago ended i'n amisca rr ia .g e . .Neve rthe :Jess , she d8 I ive rs 'an 'appa ren tl .y heA lt hy 'baby b ' o y . Du r ing . the ' in i t" ia l su rVey, t he . OB/GYNrasidant notes thatthe b ab y . H a s g oo d corer a.nO is c t y ing !o .ud ly .bu t seems unable to m o ve e ith er o f h i.s le gs v .e rvw e - I J .X~r 'ays :rev .e a lhea li ng ' ff a c tu res ,b i la te ra l ly i n thE i" f !3m0 raJ sna ft an d ' ne w f fa c tu re s, in t he r ig ht t ib ia . T his : ir if an t Wo uld 'b e'8xpect~d-t_0h8VE(mutatiQ r;s.in thegene~s) -forwhic.h :o fthe foIIQW i.qg? .-JA. Hyd roXyapa t i te.) B...T y pe I c o lla g . .enU C Type I I co l la g ~nu ,Type.111c.o.l la.genV E.Np~e IV co ll ag e nl . . J P.Type x collagen

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26272829 .303132'JJ3435 .363738J9.40414 2'n4 445.464 7

Osteogenesisiimiperf~ta

The co rr ec t ~nsweri:sB-. QstE !Qg ,e.nes i s impsr tsc ta (01) i san : inhe ri ted .de fed in , type 1col. lagen. Thersls a s pe ct rum 0 f s ev er ft y o bs er ve d' wit h 01 , r.a.ngfn.gfromp repubertalf rac tu . res-w it h mi ld de fo rmit y < j -t :i dnn rma l s tatu r ,e . to ' fr equen t th il dhoDd f rac tu . res- ;; ;t hdeven ,s .evere i n .u te ro ' fr 'a e tu restha t . resu It in ps r in a ta l death.

. : 1 1 . is n et ' iI:ilrr~.GtHyd r-Q(Yapatitei:~>a c " o r h p o ne!'l f of '.bo.treth.;;;tt is'91 jm p I ka te ;d i noSie 0g en e s is ' i m p e t fe e ta .~. .c : is not cerreet, T yP e I I c o lla ge -n is fo un d in .c ar tH ag e, v itr e au sb od y, a nd nucleuspulpcsus: It is n o t r ela te d t o o s te oa e ne s is impenec t a ,D is uet ee rreet . Typ e~ ll l c .o l lag :e tnfe ti cul 'i n~ i ~ found lnskln, ploodvesselsi.uterus,f eJa I t i; ssu e , .;ilhd 'g ranu l 'at lQn t is:su e: . I~j_s'rrpt ~el.atex~o 0ste 09 e ne 'si :s. 'rn p erfe,cta-,E is not cerreet, T yp e, I V' .C o lla ~. e. nis f ou nd ih . ba ~em .e !1 t memb ra ne o r basal lamina.Itls n ut r ela te d t o o ste og en es is ' ir np er fe cta .F Is not correct. Typ e X co I ia g e n i :s f o u n d a t t h e e p ': iph y .s .e aI p la te s . . It is . n a t r ei a t e d t ooste.og;e.nesCs'impetfect


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OClK-2 inh! l: ) l lNAapirlf)COc:w. inhibi!;;l.rA~~ifl~

c :ox~ inflibit9:tkl'ilrlnC C I : . : ; Z !)' I!:1!I)'k>I,P;gpirll')

relationship betweetHOxibs (cyclooxygenase-.l in i:bJto.rs)and cardlovascular eventsls now under question.Which of the following pro'posats m'ight.expJainwhycoxihs cause more card ievascu lar events thahdces a.spirin?I

_ _ _ i jI-i-E-o-'OX-'--2--jn-h-ibi-.to-r -+---!,k-', --I -1- 1Aspirin ~''''...J A .A.) B.. B ,v C.CuD . . Du. E~

~ I

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73/97

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L 'O["L.l.pb"Jg[1a!ie a m e l iLel!Jlk.omell.e,

The cor'r~danswer is E. Pras't ; ilgl;1lhdin ~PG)12nhihi tspl .at "elet " ;; : Iggregat iph and therefOJe. jsOit '! 'a" rl t ithr 'orhb'ofic ag.ef lt . On th:e"qther h; ; l.nd, tnfombo: ;. : :ar i 'e dx) A2i r ic : r .e:asesprateIBt'ag.gre.gation and. is '~ Pr .othtombot icagent. . 90X:2inhi.Q itQrsse lec tive ly de t reas 'e ' P G I 2 le av in g th ea ctlo n o rT rrjl ,2 : u no pp :o se d. T his c ou ld . w ell re sU ltmtncraased eerebrovascutar a ni :h -a rd io va sc ul ar e ve nt s d .u e to t he t on ic , unopposadprothromboti.t action orTX ffi2, . . .A .. is ue t e er re et , ( ox ib s 'do not. in:cre~se:.prostagl.andin(PG) 1 ' 1 , C ;-::ibs are.thoug.hi"tospare' the gas t ric r 'nuGQ'sabe-ca:us .eh.e~yse' l ,ect ix .:e lyblpcktt r .e,synthe;s i :S !JfQtb.erP IPs f -ag land ins f n'otp:e c O J u ' ;; e they inc r .eas 'eJh.e"'PIPd'uct iQ fI o f P"Gj"2,E li is not eerreet, Cox i, bs do no ti nt re 'a s e- th e ac ti vi ty 'o ft hr or fl o bo xane . "( _Tx ) A2 . TheyI Had t o a prothrombotic state by deneas in .g .t h. e a c t( vi ty o ft h' ~ antithrnmnntic 'prostaglandlt i112, which rJormall-y opposes Tl f.A ,2 : an. dkeep .s iL in checkr is ue t eerteet, (ox i b s 'd 0 not : :c i~c.re.,a:wth'ro'mb:oxa18A2 . , . t fw ,v Ie . ~ : v eitsp1othlombot ic action iJnnppa::; ;ed.[Ii is I'jot"correet. A sp irin is ,;;:ICOX -1 . . ; ;: I, (I dC 'oX-2 inh ib it a :r t ~aJ nons 'eFed iwe lv dsersasasa l l p r ost ag la 'nd ins:

._-----F 'I:RST A IIDArachic lf ln i~ i i I.e i idp. .oou.: ; ll ' lUp o;.; :yge~l~~e, a , f l h ~ 1 i ( 8 J y }'ie]dB:LelilJlo~.uiene5 ..

L T B 4 IS . :iI I J I . e J L ] t r o p h l m .a ~ ] . ! ~ m o i t a d $ c a,ge~~!t..[,TC4'O~.~.m] E4~u.nct~DJU.n lbFO[J;ch,ocO~1StJJ~duolJJ.

Y~:!iOOonEtr.uct]Q'~" co:w.hr;ac~ol] of smoethnausele,a~~a yaSCildJr:!=iel 'Fl :]eaMWty.

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74/97

2 3 : -2425 .26272829 .303132'J 3 : -3435 .363738J9.404 14 2'n4 445 .4 64 7

A 1 4 -y e ar -. old h Fg h s c h oo l fr .e s hma n p re se nt s t o h er f am ily d od or fo r a s po rt s p hy sic al. S he h as n ot .p la ye .G I or ga ni ze dsports in.the past'but i s r h~ fo o d phvslcalshape. Sh e rnentlons that.she e xpe ri en c .e d se ve re . Ie g cramps ' af te rt ry ih g o u tfo r th e s oc ce r te am la st w ~e K ,T he niqht after tbe tryouts, she noticed fhat h er u rin e' h ad arsddisfi t in'g e . . She. h a s ho:bther tne:d ic '< i l co rnp l a l n f s . He rp h ys i( i~ :l rl o rd e .r s < in i sc h em i c f o re a rm e x e rc i se t es t, wh ich r eVe .a l: sn o increase inY . en o us , l ac ta te . Wh ,i :c h 'cifthEi fo llo

usmlerx biochem- others (48)

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