COMSAE c1
Study conline cat
chttps://quizlet.com/_82iqw8
1.Hyperimmunoglobulinemia cE c(Job csyndrome): cAn cautosomal cdominant
ccon- cdition ccharacterized cby cthe ctriad cof ceczema, ceosinophilia, cand
crecurrent cskin cand cpulmonary cinfections.
It cis calso cassociated cwith cmultiple cconnective ctissue cand cskeletal
cabnormalities, cin- ccluding cscoliosis, chyperextensibility, cpathologic
cfractures, cretained cprimary cdentition, ccraniosynostosis, cand cvascular
cabnormalities
2.Nitroblue cTetrazolium cDye cTest: cIt cis cused cto cdetect cthe cpresence cof
cNADPH coxidase, can cenzyme cused cby cneutrophils cto cmake coxygen
cradicals cfor ckilling cbacteria. cThe ctest cis cpositive cwhen cthe cenzyme cis
cpresent cand cnot cdefective; cthe chigher cthe cblue cscore, cthe cbetter cthe
ccell cis cat creproducing creactive coxygen cspecies.
NADPH coxidase cis cnot caffected cin cJob csyndrome; cthus, cthe cnitroblue
ctetrazolium cdye ctest cshould cbe cpositive. cA cnegative ctest, cas cin cchronic
cgranulomatous cdisease, cwill cshow ca clack cof cNADPH coxidase.
3.What cis cthe cmost ccommon ccause cof cgastritis cwith cwatery cdiarrhea cbefore
cthe cage cof c2-years?: cRotavirus
4.Sarcoidosis: cIt cis ccharacterized cby cnoncaseating e
cgranulomas cin cth cand chilar clymph cnodes. cPatients cwith cinterstitiu
cthis cdisorder chave cerythema cno cproblems, cand ccommonly m cdosum,
chypercalcemia cas ca cresult cof chypervitamino cboth
cobstructive cand crestrictive clung cdisease challmarks
5.CA19-9 cis ca ctumor cmarker cfor: cPancreatic cCancer
1 c/
c35
, COMSAE c1
Study conline cat
6.Brocas cArea: clanguage carea cin cthe cL cinferior cfrontal cGyrus cthat
chttps://quizlet.com/_82iqw8
c helps cto ccontrol cspeech cproduction.
Damage chere ccauses cnon-fluent c& cpoor crepetition. cPt cwill chave cINTACT
ccomprehen- csion
7.Latissimus cDorsi cm caction: cExtension, cadduction, cand cinternal of
crotation carm. cthe
Innervated cby cthe cthoracodorsal cnerve.
8.Wernickes cArea: cLocated cin cthe cL csuperior cTemporal cgyrus. cDamage
cto cthis carea cof cthe cbrain cwould clead cto cWernicke's caphasia. cThese
cpatients ccan cspeak cfreely, cbut care cunable cto ccomprehend.
9.Anti- cJo cantibodies cseen cin?: cPolymyositis
2 c/
c35
, COMSAE c1
Study conline cat
chttps://quizlet.com/_82iqw8
10.CTG cRepeat: cMyotonic cMuscular cDystrophy cis ca ctrinucleotide crepeat
cexpansion cdisease. cIt cis can cexpansion ctrinucleotide cwithin cthe
cdystrophia cmyotonica-protein ckinase c(DMPK) cgene. cDefect cof cthe cgene
ccan clead cto cmyotonia c(noted cwith cthe csustained cgrasp), cmuscle
cwasting, cfrontal cbalding, ccataracts, ctesticular catrophy, cand
carrhythmias. cIt cexhibits can cautosomal cdominant cmode cof cinheritance.
11.CAG crepeat: cHuntington cDisease. cAD, cThe crepeat cdisorder cis clocated
con cchro- cmosome c4. c20-50 cy/o. cAffected cindividuals cpresent cwith
cchoreiform cmovements, caggression, cdepression, cand cdementia. cThere
cis ca cdecrease cin cthe clevels cof c(GABA) cand cacetylcholine cin cthe cbrain
cleading cto cneuronal cdeath cvia cN-methyl-D-aspartate creceptor c(NMDA-
R) cbinding cof cglutamate, cleading cto cglutamate ctoxicity.
12.CGG cRepeat: cFragile cX cSyndrome
13.GAA cRepeat: cFriedriech cAtaxia. cThe cdefect cis clocated con
cchromosome c9 cin cthe cgene cthat cencodes cfrataxin, can ciron cbinding
cprotein. cAffected cindividuals cwill chave can cimpairment cin cmitochondrial
cfunction. cThere cwill cbe cdysfunction cwithin cthe cspinal ccord ctracts cleading
cto cmuscle cweakness cand closs cof cdeep ctendon creflexes, cvibratory csense,
cand cproprioception. cPatients ctypically cpresent cwith ca cstaggering cgait,
cnumerous cfalls, cnystagmus, cdysarthria, cpes ccavus, chammer ctoes,
chypertrophic ccardiomyopathy, cas cwell cas cchildhood ckyphoscoliosis.
14.Alport cSyndrome: cpresents cwith crenal cfailure cand chearing closs. cIt cis
ccaused cby ca cdefect cin ctype cIV ccollagen cfound cin cbasement
cmembranes
15.Colles cFx: cFractures cof cthe cdistal cradius
16.Monteggia cfx: cUlnar cFx cw/ cradial chead cdislocation
17.dorsal cinterossei: cAbduct cfingers
18.Palmar cInterossei: cAdduct cfingers
19.Pilocytic castrocytomas: cA c(CNS) cneoplasms cthat care coften ccystic.
cThey carise cfrom castrocytes cand care ccommonly clocated cin cthe
ccerebellar chemispheres cand caround cthe cthird cventricle. cThey chave ca
cvery cfavorable cprognosis cand cdo cnot cinvade ctissues. cPatients cwill
ts csuch
cpresent cwith csymptoms cof cincreased cintracranial cpressure cdue cas
cto ca
cresultant chydrocephalus cor cmass ceffect. cFocal cneurologicalcures cmay
cdefici
weakness, cparalysis, csensory cdeficits, ccranial cnervecalso csuch
cpalsies, cand cseiz coccur. cPhysical cexamination cwill crevealcas crapid ce
3 c/
c35
, COMSAE c1
Study conline cat
cabnormal ccerebellar functions calternating cmovements,
chttps://quizlet.com/_82iqw8 c
cfinger cto cnose ctesting, cheel cto cshin, cor cpositiv
test cwith cthe ceyes copen. cCT cor cMRI cwill creveal ca cunilocular cor
cmultilocular ccyst cwith can cassociated ctumor cnodule. cHistological
cevaluation cwill creveal cthe cpresence
of cRosenthal cfibers, cwhich care celongated ccorkscrew cshaped ceosinophilic
cfibers cthat cstain cpositively cfor cglial cfibrillary cacidic cprotein c(GFAP).
4 c/
c35
Study conline cat
chttps://quizlet.com/_82iqw8
1.Hyperimmunoglobulinemia cE c(Job csyndrome): cAn cautosomal cdominant
ccon- cdition ccharacterized cby cthe ctriad cof ceczema, ceosinophilia, cand
crecurrent cskin cand cpulmonary cinfections.
It cis calso cassociated cwith cmultiple cconnective ctissue cand cskeletal
cabnormalities, cin- ccluding cscoliosis, chyperextensibility, cpathologic
cfractures, cretained cprimary cdentition, ccraniosynostosis, cand cvascular
cabnormalities
2.Nitroblue cTetrazolium cDye cTest: cIt cis cused cto cdetect cthe cpresence cof
cNADPH coxidase, can cenzyme cused cby cneutrophils cto cmake coxygen
cradicals cfor ckilling cbacteria. cThe ctest cis cpositive cwhen cthe cenzyme cis
cpresent cand cnot cdefective; cthe chigher cthe cblue cscore, cthe cbetter cthe
ccell cis cat creproducing creactive coxygen cspecies.
NADPH coxidase cis cnot caffected cin cJob csyndrome; cthus, cthe cnitroblue
ctetrazolium cdye ctest cshould cbe cpositive. cA cnegative ctest, cas cin cchronic
cgranulomatous cdisease, cwill cshow ca clack cof cNADPH coxidase.
3.What cis cthe cmost ccommon ccause cof cgastritis cwith cwatery cdiarrhea cbefore
cthe cage cof c2-years?: cRotavirus
4.Sarcoidosis: cIt cis ccharacterized cby cnoncaseating e
cgranulomas cin cth cand chilar clymph cnodes. cPatients cwith cinterstitiu
cthis cdisorder chave cerythema cno cproblems, cand ccommonly m cdosum,
chypercalcemia cas ca cresult cof chypervitamino cboth
cobstructive cand crestrictive clung cdisease challmarks
5.CA19-9 cis ca ctumor cmarker cfor: cPancreatic cCancer
1 c/
c35
, COMSAE c1
Study conline cat
6.Brocas cArea: clanguage carea cin cthe cL cinferior cfrontal cGyrus cthat
chttps://quizlet.com/_82iqw8
c helps cto ccontrol cspeech cproduction.
Damage chere ccauses cnon-fluent c& cpoor crepetition. cPt cwill chave cINTACT
ccomprehen- csion
7.Latissimus cDorsi cm caction: cExtension, cadduction, cand cinternal of
crotation carm. cthe
Innervated cby cthe cthoracodorsal cnerve.
8.Wernickes cArea: cLocated cin cthe cL csuperior cTemporal cgyrus. cDamage
cto cthis carea cof cthe cbrain cwould clead cto cWernicke's caphasia. cThese
cpatients ccan cspeak cfreely, cbut care cunable cto ccomprehend.
9.Anti- cJo cantibodies cseen cin?: cPolymyositis
2 c/
c35
, COMSAE c1
Study conline cat
chttps://quizlet.com/_82iqw8
10.CTG cRepeat: cMyotonic cMuscular cDystrophy cis ca ctrinucleotide crepeat
cexpansion cdisease. cIt cis can cexpansion ctrinucleotide cwithin cthe
cdystrophia cmyotonica-protein ckinase c(DMPK) cgene. cDefect cof cthe cgene
ccan clead cto cmyotonia c(noted cwith cthe csustained cgrasp), cmuscle
cwasting, cfrontal cbalding, ccataracts, ctesticular catrophy, cand
carrhythmias. cIt cexhibits can cautosomal cdominant cmode cof cinheritance.
11.CAG crepeat: cHuntington cDisease. cAD, cThe crepeat cdisorder cis clocated
con cchro- cmosome c4. c20-50 cy/o. cAffected cindividuals cpresent cwith
cchoreiform cmovements, caggression, cdepression, cand cdementia. cThere
cis ca cdecrease cin cthe clevels cof c(GABA) cand cacetylcholine cin cthe cbrain
cleading cto cneuronal cdeath cvia cN-methyl-D-aspartate creceptor c(NMDA-
R) cbinding cof cglutamate, cleading cto cglutamate ctoxicity.
12.CGG cRepeat: cFragile cX cSyndrome
13.GAA cRepeat: cFriedriech cAtaxia. cThe cdefect cis clocated con
cchromosome c9 cin cthe cgene cthat cencodes cfrataxin, can ciron cbinding
cprotein. cAffected cindividuals cwill chave can cimpairment cin cmitochondrial
cfunction. cThere cwill cbe cdysfunction cwithin cthe cspinal ccord ctracts cleading
cto cmuscle cweakness cand closs cof cdeep ctendon creflexes, cvibratory csense,
cand cproprioception. cPatients ctypically cpresent cwith ca cstaggering cgait,
cnumerous cfalls, cnystagmus, cdysarthria, cpes ccavus, chammer ctoes,
chypertrophic ccardiomyopathy, cas cwell cas cchildhood ckyphoscoliosis.
14.Alport cSyndrome: cpresents cwith crenal cfailure cand chearing closs. cIt cis
ccaused cby ca cdefect cin ctype cIV ccollagen cfound cin cbasement
cmembranes
15.Colles cFx: cFractures cof cthe cdistal cradius
16.Monteggia cfx: cUlnar cFx cw/ cradial chead cdislocation
17.dorsal cinterossei: cAbduct cfingers
18.Palmar cInterossei: cAdduct cfingers
19.Pilocytic castrocytomas: cA c(CNS) cneoplasms cthat care coften ccystic.
cThey carise cfrom castrocytes cand care ccommonly clocated cin cthe
ccerebellar chemispheres cand caround cthe cthird cventricle. cThey chave ca
cvery cfavorable cprognosis cand cdo cnot cinvade ctissues. cPatients cwill
ts csuch
cpresent cwith csymptoms cof cincreased cintracranial cpressure cdue cas
cto ca
cresultant chydrocephalus cor cmass ceffect. cFocal cneurologicalcures cmay
cdefici
weakness, cparalysis, csensory cdeficits, ccranial cnervecalso csuch
cpalsies, cand cseiz coccur. cPhysical cexamination cwill crevealcas crapid ce
3 c/
c35
, COMSAE c1
Study conline cat
cabnormal ccerebellar functions calternating cmovements,
chttps://quizlet.com/_82iqw8 c
cfinger cto cnose ctesting, cheel cto cshin, cor cpositiv
test cwith cthe ceyes copen. cCT cor cMRI cwill creveal ca cunilocular cor
cmultilocular ccyst cwith can cassociated ctumor cnodule. cHistological
cevaluation cwill creveal cthe cpresence
of cRosenthal cfibers, cwhich care celongated ccorkscrew cshaped ceosinophilic
cfibers cthat cstain cpositively cfor cglial cfibrillary cacidic cprotein c(GFAP).
4 c/
c35
