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BasicScience
https://www.facebook.com/elzohryxp
May2012
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20122
BasicScienceQ001A 30 year old patient develops haemolytic anaemia,which is thought to be due to
penicillintreatment.
Whichisthecorrecttypeofhypersensitivityreactiontodescribethis?
A.TypeIB.TypeII
C.TypeIIID.TypeIVE.TypeV
Answer:b)TypeII.
DruginducedhaemolyticanaemiaisduetoatypeIIhypersensitivityreaction.Thetypes
are:
TypeI AnaphylaxisduetoIgEfrommastcellsandinvolvingbasophils
Type II Cytotoxicdue to freeantibodies in thecirculation (usually IgG, IgMand IgA)
leading to cell lysis due to antigenantibody crosslinking and complement
fixation
TypeIII ImmunecomplexdepositionassociatedwithcirculatingIgG
Type IV Cellmediated due to interaction between T cells and membranebound
antigens
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20123
BasicScienceQ002Which
red
blood
cell
antigen
is
involved
in
entry
of
Plasmodium
vivax
into
red
cells?
A.RhesusSB.RhesusD
C.DuffyD.GP24E.Kell
Answer:C)Duffy
Duffy negative patients are resistant to developing plasmodium vivax infection. The
DuffyantigenreceptorfacilitatesentryofPlasmodiumVivaxintoredbloodcells.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20124
BasicScienceQ003A20yearoldmanhasbeennewlydiagnosedwithGaucher'sDisease.This
is
associated
withadeficiencyofwhichoneofthefollowingenzymes?
A.GlucocerebrosidaseB.Sphingomyelinase
C.IduronidaseD.HexosaminidaseAE.ArylsulphataseA
Answer:a)Glucocerebrosidase.
Gaucher's disease is associated with the enzyme glucocerebrosidase. As a result,
glucocerebrosideaccumulates,principally in thephagocyticcellsof thebodybutalso
sometimesinthecentralnervoussystemneurones.
Three types of Gaucher disease are described. Common to all three types are the
presence of hepatosplenomegaly and of large glucocerebroside containing
reticuloendothelialhistiocytes,orGauchercells,inthebonemarrow.
Theotherassociationsare:
TaySachsdisease HexosaminidaseAdeficiency
NiemannPickdisease Sphingomyelinasedeficiency
Metachromaticleukodystrophy ArylsulphataseAdeficiency
Hurler'ssyndrome Iduronidasedeficiency
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20125
BasicScienceQ004Which
of
the
following
diseases
is
X
linked
inherited?
A.Alpha1antitrypsindeficiencyB.Haemochromatosis
C.Marfan'ssyndromeD.G6PDdeficiencyE.Wilson'sdisease
Answer:d)G6PDdeficiency.
G6PD deficiency's inheritance is X linked recessive. Duchennemuscular dystrophy is
another example of a disease which has X linked recessive inheritance. X linked
hypophosphataemicricketsisXlinkeddominant.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20126
BasicScienceQ005
A22yearoldmalewho istallandthin, isfoundtohaveahigharchedpalate,downw
arddislocationoflens,chestwalldeformitiesandlivedoreticularis.
Whichoneofthefollowingisalsoassociatedwiththissyndrome?
A.Fibrillingenedefect
B.PositiveGuthrietest
C.AutosomalDominantinheritance
D.Osteopetrosis
E.Methionineaccumulation
Answer:e)Methionineaccumulation.
Thediagnosisishomocystinuria(Marfan'scausesupwardslensdislocationandfibrillin
genedefect).Homocystinuria is an autosomal recessivedisorder.Reduced activityof
cystathionine synthase results in accumulation of homocysteine methionine.
Osteoporosisandosteopetrosisarealsoseeninhomocystinuria.
MetabolismofHomocysteine
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20127
BasicScienceQ006
ApostgraduatestudentisstudyingHIVreplication.
WhichofthefollowingisimportantinthereplicationortransmissionofHIV1?
A.Trypsin
B.Bax
C.GP120
D.P53
E.MHC
Answer:c)GP120.
HIV reverse transcriptase, integrase and protease are key enzymes essential forHIV
replication.TheHIVgenomecontainsthegenes:tatandrevalongwithnef,env,gagand
pol.TheGP120isthemajorproteinonthesurfaceofHIVthatinteractswithhostcells.
HIVbinds to cell surfaceCD4butenters cells through chemokine receptors including
CXCR4andCCR5.Thymidinekinaseisproducedbytheherpessimplexvirus.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20128
BasicScienceQ007
Whichof
the
following
anatomical
structures,
if
damaged,
leads
to
choreiform
movementabnormalities?
A.Caudatenucleus
B.Subthalamicnucleus
C.Substantianigra
D.Hippocampus
E.Corpuscallosum
Answer:a)caudatenucleus.
Caudatenucleus,putamenandglobuspallidusareareaswithinthebasalgangliawhich,
when impaired,canleadtochoreiformmovements.Subthalamicnucleuslesioncauses
hemiballismus.Hippocampusinvolvementcancausememoryloss.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 20129
BasicScienceQ008
A35yearoldmanpresentswithbleedingoesophagealvarices.Onexaminationhehas
Kayser Fleischerringsinthecornea.Theinheritanceofthisdisorderis:
A.Polygenicinheritance
B.Xlinkeddominant
C.Xlinkedrecessive
D.Autosomalrecessive
E.Autosomaldominant
Answer:d)Autosomalrecessive.
ThediagnosisisWilsonsdisease,whichhasautosomalrecessiveinheritance.
KayserFlescherRinginWilson'sdisease
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201210
BasicScienceQ009
Whichof
these
is
the
correct
description
of
peptide
bonds?
A.Bondsbetween2carboxylicacidgroupsofaminoacids
B.Hydrogenbondsbetween2sidechainsofaminoacids
C.Bondsbetweenthecarboxylicacidgroupofoneaminoacidandtheaminogroupof
thenext
D.Bondsbetweenalternatingpurineandpyrimidinemolecules
E.Covalentbondsbetweentwoaminoacids
Answer:c)bondsbetweenthecarboxylicacidgroupofoneaminoacidandtheamino
groupofthenext.
Peptidebonds are linkagesbetween the carboxylic acid (COOH) groupofone amino
acidandtheamino(NH2)groupofthenextaminoacid.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201211
BasicScienceQ010A45yearoldmanwithanewdiagnosisofhepatitisBiskeentoknowmoreaboutthe
prognosisofthedisease.
Whatpercentageofpatientsislikelytodevelopchronicinfection?
A.100%B.80%
C.50%D.10%E.5%
Answer:d)10%.
Theviruscanbefoundinothercelltypesapartfromhepatocytes,suchasrenaltubular
cells. 10% of patients with hepatitis B develop chronic infection as compared tohepatitis C where 80% develop chronic infection. The likelihood of virus clearance
increaseswithbettercellmediatedimmuneresponses.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201212
BasicScienceQ011A25yearoldmanwithcysticfibrosisisreferredforinvestigationofpoorfertility.
Whatislikelytohavecausedthis?
A.MalabsorptionandvitamindeficiencyB.Abnormaloestrogenmetabolism
C.AcidificationofseminalfluidD.HypopituitarismE.Failureofdevelopmentofvasdeferens
Answer:E)Failureofdevelopmentofvasdeferens
Infertilityincysticfibrosisisduetomaldevelopmentofvasdeferens.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201213
BasicScienceQ012Achildhasanendocrineconditionwhichhascausedshortstature.
Whichofthefollowingconditionsmaybedetectablebygrowthmonitoring?
A.ThyrotoxicosisB.Pseudohypoparathyroidism
C.HypothyroidismD.InsulindependentdiabetesmellitusE.XYYSyndrome
Answer:c)Hypothyroidism.
Growthmonitoringcanaiddetectionofthefollowingconditions:
hypothyroidism
growthhormoneinsufficiency
Turners&Noonan'ssyndrome,skeletaldysplasias
coeliacdisease,inflammatoryboweldisease
intracranialtumours
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201214
BasicScienceQ013A35yearoldladyhaspsychogenicdiabetesinsipidus.Herbloodresultsshow sodium
124mmol/l;potassium 4.0mmol/l;Urea 5mmol/l;Creatinine 30mmol/l;Glucose 8
mmol/l.
Whatistheserumosmolality[mosmol/Kg]?
A.255B.261
C.264D.278E.284
Answer:b)261.
Serum osmolality is 2 X sodium +Urea +Glucose = 248 + 5 + 8 = 261mOsmol/Kg.
Normalis280to305henceshehaslowserumosmolality.Analternativeformulais1.9x
(Na+K)+Ur+Glucose.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201215
BasicScienceQ014
Whichone
of
the
following
set
of
offsprings
would
aX
linked
dominant
condition
be
transmittedto?
A.Noneofthesonsofanaffectedwoman
B.Halfofthedaughtersofanaffectedwoman
C.Allofthesonsofanaffectedwoman
D.Allchildrenofanaffectedwoman
E.Allchildrenofanaffectedman
Answer:b)Halfofthedaughtersofanaffectedwoman.
The classical example of an Xlinked dominant inherited condition is familial
hypophosphataemicrickets.RemembertodifferentiatebetweenXlinkedrecessiveand
Xlinkeddominant.
An affectedwoman has the chromosomes XxX andwill transmit this to half of her
daughterswhowilleitherhave
XX or XxX chromosomes. Similarly, half of the sonswill have the disease XxY or XY
chromosomes.
Xlinkeddominantinheritancewithanaffectedmother
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201216
BasicScienceQ015Which
one
of
these
conditions
is
an
Autosomal
Dominant
disorder?
A.AtaxiaTelangiectasiaB.Achondroplasia
C.AlkaptonuriaD.CysticFibtosisE.Phenylketonuria
Answer:b)Achondroplasia.
Thelistofautosomaldominantdisordersare:
achondroplasia
antithrombinIIIdeficiency
EhlersDanlossyndrome
Familialhypercholesterolaemia
Gilbert'sdisease
hereditaryhaemorrhagictelangiectasia
hereditaryelliptocysis,hereditaryspherocytosis
Huntington'sdisease
idiopathichypoparathyroidism
intestinalpolyposis
marblebonedisease
Marfan'ssyndrome
neurofibromatosis
polycystickidneydisease(adult)
proteinCdeficiency
osteogenesisimperfecta
TreacherCollinssyndrome
tuberoussclerosis
VonWillebrand'sdisease
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201217
BasicScienceQ016
Whatis
the
effect
of
leptin
on
body
metabolism?
A.Decreasesenergyusage
B.StimulatesneuropeptideY
C.Increasesappetite
D.Stimulatespancreaticproteases
E.Reducesadiposetissuemass
Answer:E)reducesadiposetissuemass
Leptin is expressed by adipocytes andmediate effects via the hypothalamic centre
which controlshungerandenergyexpenditure. It inhibitsneuropeptideY (which is a
potent appetite stimulator), increases oxygen consumption, body temperature and
reducesadiposetissuemass.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201218
BasicScienceQ017
A65yearoldmanhasaparietallobeinfarct.
Whichoneofthefollowingisalikelymanifestation?
A.Fingeragnosia
B.Homonymoushemianopia
C.Bitemporalhemianopia
D.Expressivedysphasia
E.Dysdiadochokinesis
Answer:a)fingeragnosia.
Parietallobesignsare:
lossoftwopointdiscrimination
agraphia
fingeragnosia
astereognosis
dyslexia
Gerstmannsyndrome
receptivedysphasia
dressingandconstructionaldyspraxia
Gerstmann syndrome includes four features (acalculia, agraphia, finger agnosia, left
rightdisorientation),andisduetoalesioninthedominanthemisphere.
TestingforFingerAgnosia(inabilitytodiscriminatedifferentfingers)
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201219
BasicScienceQ018An18yearoldballetdancerpresentstoA&Eunwell.Shehaspoordentition.
HerarterialpHis7.44andshehasapCO2of6kPaandpO2of10kPa.Herchlorideis85
(95107)mmol/l,HCO3is30(2028)mmol/l.
Whichofthefollowingdescribesheracidbasebalance?
A.RespiratoryacidosiswithmetaboliccompensationB.Respiratoryalkalosiswithmetaboliccompensation
C.MetabolicacidosiswithrespiratorycompensationD.MetabolicalkalosiswithrespiratorycompensationE.Normalaniongapmetabolicacidosis
Answer:d)metabolicalkalosiswithrespiratorycompensation.
This patient is bulimic and has lost HCl from excessive vomiting. She hasmetabolic
alkalosiswhichiscompensatedbyhypoventilation(hencelowpO2andhighCO2).
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201220
BasicScienceQ019Which
one
of
following
biochemical
abnormalities
would
be
most
commonly
seen
in
a
diagnosisofBartterssyndrome?
A.HypochloraemiaB.Hyperkalemia
C.HyponatraemiaD.HypokalemiaE.Acidosis
Answer:D)Hypokalemia
Bartterssyndromeischracterisedby:
hypokalaemicalkalosis,elevatedreninandaldosteronelevels
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201221
BasicScienceQ020Amanwho has common variable immunodeficiency comes to see thedoctor in the
geneticsclinicwithhisgirlfriend.Theywouldliketostartafamily.
Whatistheprobabilitythathischildrenwillinherithisdisease?
A.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201222
BasicScienceQ021
TranscriptionRNA (tRNA)has threebasesspecific toaparticularaminoacid,which it
bindstomessengerRNA(mRNA).ThisspecificareaoftRNAknownas:
A.Codon
B.Intron
C.Anticodon
D.Transposon
E.Exon
Answer:c)anticodon.
TransferRNA (tRNA) isasmallRNAchain (7493nucleotides)that transfersaspecific
aminoacid toagrow ingpolypeptidechainat the ribosomal siteofproteinsynthesis
during translation. It has sites for aminoacid attachment and codon (a particular
sequenceof3bases)recognition.ThecodonrecognitionisdifferentforeachtRNAand
isdeterminedbytheanticodonregion,whichcontainsthecomplementarybasestothe
onesencounteredonthemRNA.EachtRNAmoleculebindsonlyonetypeofaminoacid,
butbecausethegeneticcodeisdegenerate,morethanonecodonexistsforeachamino
acid.
AnticodonandCodon
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201223
BasicScienceQ022Which
one
of
these
organelles
have
DNA
which
can
self
replicate?
A.GolgiapparatusB.Nuclearmembrane
C.MitochondriaD.PeroxisomesE.Transcriptionfactors
Answer:c)mitochondria.
OnlymitochondriahaveselfreplicatingDNA
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201224
BasicScienceQ023
A 25 year oldwomanwas referred for investigation of iron deficiency anaemia.Her
motherdiedaged35yearsfromcoloniccarcinomaandhadPeutzJeghersyndrome.
WhichisthelikelymodeofinheritanceofPeutzJegherssyndrome?
A.Autosomaldominant
B.Autosomalrecessive
C.Xlinkeddominant
D.Xlinkedrecessive
E.Mitochondrial
Answer:a)Autosomaldominant.
Peutz Jegher syndrome is an autosomal dominant condition associated with
pigmentation,mainly,ofthelips,buccalmucosa,genitalia,handsandfeet.
Inaddition,therearemultiplehamartogenouspolypsofthegastrointestinaltract most
often in the smallbowelbutmayoccuraffectanyportionof theGI tract.Thepolyps
themselves have a very lowmalignant potential. About 1020% of patients develop
gastrointestinalcarcinoma,butthereisalsoincreasedriskofpancreatic,lungandbreast
carcinoma.
MucosalPigmentationinPeutzJegherSyndrome
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201225
BasicScienceQ024
Themain
histological
abnormality
in
Huntington's
disease
is
seen
in
the:
A.Caudatelobe
B.Midbrain
C.Rednucleus
D.Inferiorcolliculus
E.Hippocampus
Answer:a)Caudatelobe.
Themainhistological abnormality inHuntingtons chorea is seen in the caudate lobe
andputamenwherethereisextensiveneuronalloss.
Caudatenucleus/lobe
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201226
BasicScienceQ025Atsympatheticnerveendingswhat
happens
to
the
majority
of
amount
of
noradrenaline
followingdepolarisation?
A.ReuptakebythenerveterminalendingB.Breakdownbymonoamineoxidase
C.ConversiontoadrenalineD.StaysatthenervejunctionE.RecycledbycatecholOmethyltransferase
Answer:a)reuptakebythenerveterminalending.
Most noradrenaline is taken up back into neurosecretory granules.MAO and COMT
metaboliseNAinsmallamounts.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201227
BasicScienceQ026A 62 year old man with epigastric pains and weight loss is suspected of having
pancreaticcarcinoma.
Whichoneofthefollowingmarkersisuseful?
A.AlphafetoproteinB.CA19.9
C.CA125D.ProstatespecificantigenE.Carcinoembryonicantigen
Answer:B)CA19.9
CA19.9isfoundin7090%ofpatientswithpancreaticcarcinoma.CA125andCEAmay
alsobepositivebutarelessfrequentlyso.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201228
BasicScienceQ027The
RET
Proto
oncogene
is
associated
with
which
one
of
the
following?
A.InsulinomaB.Anaplasticthyroidcarcinoma
C.BronchialcarcinomaD.MedullarythyroidcarcinomaE.Pituitarytumour
Answer:D)Medullarythyroidcarcinoma.
The RET protooncogene is associated with multiple endocrine neoplasia MEN2A,
MEN2Bandmedullarythyroidcarcinoma1,Hirschsprungdisease.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201229
BasicScienceQ028Ayoungmanpresentswithfeversandhasseveralbloodtests.
Whichoneofthefollowing,ifincreased,suggestsinfection?
A.AlbuminB.Transferrin
C.FerritinD.Alpha2macroglobulinE.Leptin
Answer:C)Ferritin.
Ferritiniswellknownasanacutephaseproteinwhichisincreasedinsepsis.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201230
BasicScienceQ029A62yearmalepresentswithbilateralneuropathic legpains.Therewasrelevantpast
history of excess alcohol use. He is currently on oral thiamine and omeprazole. On
examination, both knee reflexes are reduced and there is reduced sensation to fine
touchinbothfeet.
Whatisthenextbestinvestigationtoconfirmthediagnosis?
A.EMGB.ChestXray
C.CTheadD.CTspineE.Bloodsugar
Answer:E)Bloodsugar
The clinical features are consistent with a diagnosis of peripheral neuropathy and
althoughhehasanotherpossiblecauseduetoalcohol,diabetesneedstobeexcluded.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201231
BasicScienceQ030
A65yearoldMediterraneanmanwhohaslegcrampsisstartedonquinine.Hepresents
10days later,with ahistoryofdarkenedurine, increasingbreathlessness,backpains
and fatigue. Investigations show a haemoglobin of 6.5 g/dl and raised reticulocyte
count.
Whichofthefollowingbestexplainsthisdrugreaction?
A.Hereditaryspherocytosis
B.Hereditaryelliptocytosis
C.Autoimmunehaemolyticanaemia
D.Pyruvatekinasedeficiency
E.Glucose6phosphatedehydrogenasedeficiency
Answer:e)glucose6phosphatedehydrogenasedeficiency.
Glucose6phosphatedehydrogenasedeficiency(X linkedrecessive) isseen inAfrican,
Mediterranean,Iraqi,JewandSouthEastAsianChinesepeople.
Itpredisposestoahaemolyticanaemiareactiontodrugsandinfection.Implicateddrugs
includeaspirin,sulphonamides,antimalarialsandquinidine.
BloodfilmshowinghaemolysisinG6PDdeficiency
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201232
BasicScienceQ031A40yearold femalepresentswithamovementdisorder.There isa familyhistoryof
Huntingtons chorea and the family is worried that she may be developing this
condition.
Whatisitsinheritance?
A.AutosomalrecessiveB.Autosomaldominant
C.MitochondrialinheritanceD.XlinkedrecessiveE.Xlinkeddominant
Answer:b)Autosomaldominant.
Huntingtonschoreaisinheritedasanautosomaldominanttrait.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201233
BasicScienceQ032
A60yearoldmanhasnumbnessandtinglingoftheupperouterpartoftheleftthigh.
Onexamination,thereissensoryimpairmentovertheanterolateralaspectofthethigh.
Whereisthelesion?
A.Sacralnerve
B.Lateralcutaneousnerveofthigh
C.Pudendalnerve
D.Femoralnerve
E.Sciaticnerve
Answer:b)Lateralcutaneousnerveofthigh.
The diagnosis is meralgia paraesthetica, an entrapment neuropathy of the lateral
cutaneousnerveofthethighasitpassesundertheinguinal ligament.Obesity isarisk
factorforthecondition.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201234
BasicScienceQ033Whichofthefollowinghaematologicaldisordersisinheritedasanautosomalrecessive
condition?
A.AcuteintermittentporphyriaB.AntithrombinIIIdeficiency
C.PyruvatekinasedeficiencyD.Glucose6phosphatedehydrogenasedeficiencyE.ProteinCdeficiency
Answer:c)Pyruvatekinasedeficiency.
Pyruvate kinase deficiency is a rare congenital haemolytic anaemia inherited as an
autosomalrecessivemanner.
Theothercondition'sinheritanceare:
Acuteintermittentporphyria autosomaldominant
Antithrombin3(AT3) autosomaldominant
Glucose6phosphatedehydrogenasedeficiency Xlinkedrecessive
ProteinCdeficiency autosomaldominant
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201235
BasicScienceQ034
A22yearold ladyhashadseveralepisodeswheezingwithassociated flushingof the
face,lipsandhandswellingoverthepastfewyears.
Whatinvestigationshouldbedone?
A.C1esteraseinhibitorlevel
B.Skinpatchtestwithlatex
C.Skinpricktestwithlatex
D.SerumANCA
E.Rheumatoidfactor
Answer:A)C1esteraseinhibitorlevel
Hereditary angioneurotic oedema is an autosomal dominantly inherited condition
caused by a deficiency of C1 esterase inhibitor. The main clinical feature is the
intermittentoedemaintheskinaroundtheface,hands,feet,larynxandgastrointestinal
tract.Laryngealoedemamaycausewheezing.TheC2andC4 levelare low inbetween
attacksandC3isnormal.Thereare2varietiesofthedisorder.TypeIismostcommon
andresultsfromanabnormallylowlevelofnormalC1INH.TypeIIresultsfromnormal
orabnormallyelevated levelsofadysfunctionalC1INH. Inboth typesof thedisease,
initialproteolytic componentsof the complement cascade (eg,C1r,C1s)go relatively
unopposedandleadtothecharacteristicpresentationandlaboratoryabnormalities(eg,
lowlevelsofC2andC4).
Swollenlipinhereditaryangioedema
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201236
BasicScienceQ035
A 32 year old lady is admittedwith a history of epistaxis. Investigations reveal iron
deficiencyanaemia.Onexamination,multipletelangiectasiaarenotedaroundher lips
andinhermouth.
Whatisthemodeofinheritanceforthecondition?
A.Polygenicinheritance
B.Autosomalrecessive
C.Autosomaldominant
D.AutosomaldominantXlinkedrecessive
E.Xlinkeddominant
Answer:c)Autosomaldominant.
Thepatienthas the featuresofhereditaryhaemorrhagic telangiectasia (OslerRendu
Webersyndrome)whichhasautosomaldominantinheritance.
Hereditaryhaemorrhagictelangiectasia
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201237
BasicScienceQ036Whichofthefollowingstatementsdescribesthiskaryotype46XX,t(4;8)(q26;p21.3)?
A. Transversion between the long arm of chromosome 4 (q) and the short arm ofchromosome8(p)
B.Transversion between the short arm of chromosome 4 (q) and the short arm of
chromosome8(p)
C. Transversion between the long arm of chromosome 4 (p) and the short arm ofchromosome8(q)
D.Translocation between the short arm of chromosome 4 (q) and the long arm of
chromosome8(p)E.Translocation between the long arm of chromosome 4 (q) and the short arm of
chromosome8(p)
Answer:e)translocationbetweenthelongarmofchromosome4(q)andtheshortarm
ofchromosome8(p).
The karyotype46XX, t (4;8)(q26;p21.3)describes a femalewith anormalnumberof
chromosomesbutatranslocationbetweenthelongarmofchromosome4(q)andthe
shortarmofchromosome8(p).
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201238
BasicScienceQ037A 28 year ladypresentsmultiple caf au lait spots.Adiagnosisofneurofibromatosis
type1made.
WhichofthefollowingistrueregardingtheNF1genesinheritanceandlocation?
A.InheritedinanautosomalrecessivefashionB.InheritedinanXlinkedfashion
C.Foundonchromosome17D.FoundinthemitochondrialgenomeE.IsidenticaltotheNF2gene
Answer:C)Foundonchromosome17
NeurofibromatosiscanbeduetoadefectofeithertheNF1orNF2gene.
TheNF1geneisfoundonchromosome17inheritedinanautosomaldominantfashion.
TheNF2geneisfoundonChromosome22.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201239
BasicScienceQ038Regarding two loci A and B, which are in linkage disequilibrium, which
one
of
the
followingstatementsistrue?
A.TheinheritanceofanalleleatAwillalmostcertainlyexcludetheinheritanceofoneoftheallelesatB
B.Thedegreeoflinkagedisequilibriumcanbehighlyvariable
C.ThefourallelesatAandBareinheritedindependentlyprovidedthatthepopulationisofsufficientsize
D.ThelociAandBarenotlinkedE.Itisarandomassociationofallelesinabreedingpopulation
Answer:b)Thedegreeoflinkagedisequilibriumcanbehighlyvariable.
Linkagedisequilibriumisanonrandomassociationofallelesinabreedingpopulation.The lociAandBare likelytobe linked.Hence inheritanceofanalleleAusuallyoccurs
withtheinheritanceofalleleB(ratherthanexcluded).Theinheritanceisstilldependent
despitepopulationsize.Linkagedisequilibriumalmostalwaysoccursbetweenallelesat
geneticlocithatarecloselylinkedinthegenome.Thedegreeoflinkageequilibriumcan
however,behighlyvariable.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201240
BasicScienceQ039
McArdle'sdisease isageneticdefect in thephosphorylaseenzyme,whichaffects the
breakdownofglycogen.
Whatisglycogenmadeupof?
A.Chainsofglucoseresidues
B.Chainsoffructoseresidues
C.Chainsofsucroseresidues
D.Chainsofgalactoseresidues
E.Chainsofalternatinggalactoseandglucoseresidues
Answer:a)Chainsofglucoseresidues.
Thestructureofglycogenconsistsoflongpolymerchainsofglucoseunitsconnectedby
analphaacetal linkage.Chainsofglucoseresiduesare linkedinglycogenbyalpha1,4
glycosidicbonds (i.e.betweenthe firstcarbonatomC1ofoneglucoseand thefourth
carbonatomC4ofthenext).
Glycogen polymerofglucosemolecules
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201241
BasicScienceQ040
ApatientwithAngelman'ssyndromeexpressesgenomicimprinting.
Whatdoesthismean?
A.Thattwogenesareinheritedtogether
B.Thatageneismitochondriallyinherited
C.Theseverityofadiseaseworsensfromgenerationtogeneration
D.Thatonealleleofageneisnotexpressed
E.Thedifferentialexpressionofallelesisdependentontheirparentalorigin
Answer:e)thedifferentialexpressionofallelesisdependentontheirparentalorigin.
Genomic imprinting is the termused to refer to thedifferentialexpressionofalleles
dependentontheirparentalorigin.
Anexample iswhen the samegenehavingdifferentphenotypicexpression isdue to
eithermaternalinheritance(e.g.PraderWillisyndrome)orduetopaternal inheritance
(e.g.Angelmanssyndrome).
GenomicImprinting thesamegenehasdifferentphenotypicexpressiondependingon
whetheritismaternallyorpaternallyinherited
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201242
BasicScienceQ041
A 25 year old patient with acquired Factor VIII deficiency was given a monoclonal
antibodydrugfollowinganepisodeofseverebleeding.
Whichoneoftheseisthelikelydrug?
A.Prednisolone
B.Cyclosporin
C.Enoxaparin
D.Rituximab
E.Cyclophosphamide
Answer:d)Rituximab.
Rituximabisachimeric,humanIgG1monoclonalantibodyspecificfortheCD20antigen
expressedon the surfaceofB lymphocytes.Theantibody isknown to induce rapid in
vivodepletionofbothnormalBlymphocytesandlymphomaBcells.Thedrug's limited
toxicity has led to the recent use of rituximab for the treatment of autoimmune
disorders, anticipating adecrease in antibodyproductionbyCD20+B cells. Examples
include ITP, autoimmune hemolytic anaemia, and acquired hemophilia A (factor VIII
deficiency).
Monoclonal antibodies aremade by fusing a mouse B cell withmyeloma cell line.
Antibodiescanbepurifiedandcelllinesaregrowninvitro.Theantibodiescanbeused
tomeasurehormonelevelswithimmunoassays.
ProducingMonoclonalAntibodies
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201243
BasicScienceQ042A55yearoldcarpenterhaspaininhisshoulder.Onexamination,therewaspainduring
resistanceofabduction.
Whichmuscleislikelytobeinvolved?
A.InfraspinatusB.Supraspinatus
C.PectoralismajorD.TeresminorE.Latissimusdorsi
Answer:B)supraspinatus.
Supraspinatus tendonitis is also known as rotator cuff syndrome. Supraspinatus
tendinitistypicallyaffectspatientsbetween40and60yearsofagefollowingprolonged
orexcessiveuseoftheshoulder.Painisusuallymoreseverebutofshorterdurationin
youngerpatientsduetoamorevigorousrepairprocess.Painisfeltintheshoulderand
over the deltoidmuscle but there is no obvious outw ard sign of inflammation or
swelling.Thereispainonactiveorresistedabduction.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201244
BasicScienceQ043
A25yearoldmanhastheconditionMELAS.
Whichoneofthefollowingisafeatureofthedisease?
A.Cardiacarrhythmia
B.Colourblindness
C.Hirsutism
D.Lacticacidosis
E.Ketoacidosis
Answer:d)lacticacidosis.
Mitochondrial disorders such as MELAS (Mitochondrial myopathy, encephalopathy,
lactic acidosis, stroke) and MERRF have muscle, brain, nerve and pancreatic
involvement.Withpancreaticandmuscleinvolvement,diabetesand lacticacidosiscan
occur,butketoacidosisisinfrequent.
Scatteredabnormal,vacuolatedfiberswithclearriminMELAS:H&Estain
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201245
BasicScienceQ044
Whichnerve
lesion
causes
weakness
of
biceps,
coraco
brachialis
and
brachialis
and
sensorylossoverthelateralaspectoftheforearm?
A.Radialnerve
B.Brachialnerveroot
C.Axillarynerve
D.C5andC6root
E.Musculocutaneousnerve
Answer:e)Musculocutaneousnerve.
The musculocutaneous nerve suppleis the biceps, coracobrachialis and brachialis
muscles.Italsosuppliessensationoverthelateralaspectoftheforearm.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201246
BasicScienceQ045
A35yearoldmalepresentswithoralandgenitalmucocutaneousulcerations.Healso
has associated polyarthritis affecting the lower limbs. He is currently on an recent
episodeofpulmonaryembolism.
Whichofthegeneticassociationiscommonwithsuchapresentation?
A.HLAA3
B.HLADR2
C.HLADR3
D.HLAB27
E.HLAB5
Answer:e)HLAB5.
The features of genital and oral ulceration, as well as prothrombotic states are
consistentwithBehcet'sdisease.Familialoccurrencehasbeenreportedanditseemsto
occurinpatientsfromeasternMediterraneancountriesandJapan.Thediseaseappears
tobelinkedtoHLAB5,HLA B51andHLADR5alleles.
OralUlcerationinBehcet'sDisease
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201247
BasicScienceQ046A65yearoldmanwasadmittedwithanexacerbationofchronicobstructivepulmonary
disease.
His arterial blood gases on air showed pH 7.29, Paco2 8.5 kPa, Pao2 8.0 kPa, and
standardbicarbonate30.5mmol/l.
Whatistheacidbasedisturbance?
A.MetabolicalkalosisB.Highaniongapmetabolicacidosis
C.NormalaniongapmetabolicacidosisD.RespiratoryalkalosisE.Respiratoryacidosis
Answer:e)Respiratoryacidosis.
This patient had an acidosis with a high PaCO2 and normal standard bicarbonate
respiratory acidosis. This is a common finding in acute exacerbations of chronic
obstructivepulmonarydisease,especiallywithtypeIIrespiratoryfailure.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201248
BasicScienceQ047
Whichof
the
following
anatomical
structures
is
likely
to
cause
chorea,
ifdamaged?
A.Hippocampus
B.Subthalamicnucleus
C.Thalamus
D.Caudatenucleus
E.Substantianigra
Answer:d)caudatenucleus.
Damage to the caudate nucleus is most likely to cause chorea. This is involved in
Huntington'schorea.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201249
BasicScienceQ048A60yearoldwomanhashyponatraemia.Followinginvestigation,shewasdiagnosedas
havingSIADH.
Whichofthefollowingisthemostlikelycause?
A.RamiprilB.Ibuprofen
C.ChlorpromazineD.AlcoholE.Atenolol
Answer:c)chlorpromazine.
SIADH can be caused bymany drugs (mnemonic starting with C) carbamazepine,chlorpropramide, cyclophosphamide, chlorpromazine and clomipramine (i.e.
neurolepticsandantidepressantsincludingSSRIs).AlcoholdecreasesADHrelease.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201250
BasicScienceQ049A40yearolddiabeticpatientoverdosedon30tabletsofanunknownmedication.
ShehasbloodgasesshowingapHof7.32,pO2of16kPaandpCO2of3kPa.HerHCO3
is8mmol/landbaseexcessis 5.
Whatisthelikelyscenario?
A.MetabolicacidosiswithrespiratorycompensationB.Metabolicalkalosiswithrespiratorycompensation
C.RespiratoryacidosiswithmetaboliccompensationD.RespiratoryalkalosiswithmetaboliccompensationE.Normalaniongapmetabolicacidosis
Answer:a)metabolicacidosiswithrespiratorycompensation.
Thepatientislikelytohaveoverdosedonmetforminandhasmetabolicacidosis.ThepH
isacidoticandsheishyperventilatingforrespiratorycompensationofacidbasebalance,
hencethelowCO2andhighO2
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201251
BasicScienceQ050
A50yearoldladyhaspaininherrightleg.Onexamination,therewasweaknessofher
rightankleandabsentrightanklejerk.Shealsohadsensorylossoverthelateralaspect
ofherankle.
Whichofthesenervelesionsislikely?
A.Deepperonealnerve
B.Femoralnerve
C.Sciaticnerve
D.Lumbosacralplexus
E.Inferiorglutealnerve
Answer:c)sciaticnerve.
Thesciaticnervebranchesintothetibialnerveandcommonperonealnerve.Damageto
thesebrancheswillcausealmosttotalweaknessaroundtheankleandabsentanklejerk.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201252
BasicScienceQ051
Whichform
of
nerve
damage
leads
to
complete
inability
to
raise
the
arm
at
the
shoulder
withsensorylossoverthedeltoid?
A.Lateralcutaneousnerve
B.Axillarynerve
C.Radialnerveintheaxilla
D.Suprascapularnerve
E.C5andC6ofthebrachialnerveplexus
Answer:b)Axillarynerve.
The axillary nerve supplies the deltoid and teresminor aswell as the skin over the
deltoid.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201253
BasicScienceQ052A40yearoldmanpresented2yearsagowithaninheritedneurologicaldisordercausing
weakness.Hisfatherdevelopedthediseaseinhis70sandhisdaughterwasborn5years
agowithasevereformofthecondition.Hismother,sister,wifeandsonareunaffected.
Whatisthelikelymodeofinheritance?
A.AutosomaldominantB.Autosomalrecessive
C.XlinkedinheritanceD.TrinucleotiderepeatdiseaseE.Mitochondrialinheritance
Answer:d)Trinucleotiderepeatdisease.
The inheritance showing increasing disease severitywith earlier onset of disease in
subsequent generations is called anticipation. This is typical of trinucleotide repeatdiseasewherethereisexpansionofrepetitivesequenceofthreenucleotideswitheach
generation.
Typicalexamplesare:
Huntington'sdisease,myotonicdystrohpy,fragileXsyndrome&Friedriech'sataxia.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201254
BasicScienceQ053A20yearoldpatienthasbeenkickedintheshinduringanaggressivefootballmatch.He
isunabletoeverthisfootanddorsiflexhisankle.
Whichnerveisinjured?
A.FemoralnerveB.Saphenousnerve
C.GlutealnerveD.CommonperonealnerveE.Anteriortibialnerve
Answer:d)commonperonealnerve.
Theperonealmuscles around the lateralpartof the shinhelp todorsiflex the ankle,
extendthetoesandevertthefoot.Theyaresuppliedbythecommonperonealnerve.
Thecommonperonealnerve isabranchofthesciaticnerve.Themanner inwhichthe
commonperonealnervesnakesaroundthefibularheadexposesittoinjury.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201255
BasicScienceQ054A10yearoldboywithblue scleraeand recurrent fractureshasbeendiagnosedwith
Osteogenesisimperfecta.
Whatabnormalitypredisposestobonefragility?
A.MetalloproteinaseB.Type1collagen
C.FibronectinD.LamininE.Elastin
Answer:B)type1collagen.
Osteogenesis imperfecta (OI) is a condition resulting from abnormality in the type I
collagen,whichmostcommonlymanifestsasfragilityofbones.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201256
BasicScienceQ055A65yearoldmanhasfamilialhypercholesterolaemia.
Whichoneofthefollowingisacharacteristicfeatureofthecondition?
A.PalmarxanthomasB.Autosomalrecessiveinheritance
C.ReducedexpressionofLDLreceptorsD.HypertriglyceridaemiaE.Elevatedchylomicrons
Answer:c)ReducedexpressionofLDLreceptors.
Thecharacteristicsoffamilialhypercholesterolaemiaare:autosomaldominantcondition
increasedLDLconcentrations
reducedHDLconcentrations
reducednumbersofLDLreceptor
cardiovasculardisease
tendonxanthomatas
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201257
BasicScienceQ056A65yearoldmanhasarightsidedhomonymoushemianopiaandrightsidedupperand
lower limb weakness. His reflexes are brisk on the right side. There is no sensory
abnormalities.
Whichofthefollowingareacouldbeinfarcted?
A.LefttemporalB.Leftparietal
C.LeftcingulategyrusD.RightmedialthalamusE.Leftfrontallobe
Answer:b)leftparietal.
Thecingulategyrusformspartofthelimbicsystem,whichisassociatedwithmoodandemotions.Frontallobelesionsarenotusuallyassociatedwithhomonymoushemianopia
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201258
BasicScienceQ057
A50yearoldwomanhasrightsidedweakness,headacheandvomiting.Onexamination
she has a hemiplegia affecting the right face, arm and leg. She also has unilateral
internuclearophthalmoplegiawithfailureofadductiontotheleftandnystagmustothe
left.Fundoscopyrevealspapilloedema.
Inthispatient,thepapilloedemaisduetoobstructionat:
A.TheforamenofMonro
B.TheforamenofMorgagni
C.TheforamenofMagendie
D.TheaqueductofSylvius
E.TheforamenofLuschka
Answer:d)theaqueductofSylvius.
Theaqueductofthemidbrain (theaqueductofSylvius)runs inthetegmentumofthe
midbrain andjoins the third and fourth ventricles.Compressionof the aqueduct can
resultinobstructivehydrocephalusandpapilloedema.
Headacheandvomitingcanoccurbecauseofraisedintracranialpressure.Malignantor
benign intracranialtumors,colloidalcysts,arachnoidcysts,andneurocysticercosiscan
alsocausecompressionandneedtoberuledout.
CSFdrainage
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201259
BasicScienceQ058
A75 yearoldmanhas aposterior cerebralartery territory infarct.Whichoneof the
followingislikeytooccur?
A.Bitemporalhemianopia
B.Expressivedysphasia
C.Receptivedysphasia
D.Colourblindness
E.Corticalblindness
Answer:e)corticalblindness.
The posterior cerebral artery supplies the occipital lobe and the inferior portion of
temporal lobe. Homonymous hemianopia, cortical blindness, verbal dyslexia and
hemivisualneglectcanoccur.
PosteriorCerebralArtery
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201260
BasicScienceQ059A30yearoldladyhaspalpitationsandissubsequentlyconfirmedtohavethyrotoxicosis
duetoGrave'sdisease.
Whichofthefollowingstatementsistrue?
A.Grave'sdiseaseisassociatedwithmusculardystrophyB.Propylthiouracilispreferredovercarbimazoleinpregnancy
C.RadioactiveiodinealwaysimprovesGrave'sdiseaseD.SmokinghistoryisirrelevantE.SteroideyedropsaretypicallyusedtotreatGrave'seyedisease
Answer:b)propylthiouracilispreferredovercarbimazoleinpregnancy.
Grave'sdiseaseisassociatedwithotherautoimmuneconditionse.g.myastheniagravis.
Propylthiouracil ispreferred toCarbimazole inpregnancybecausecarbimazolecrosses
theplacentaandcancausenail/fingerabnormalities(aplasiacutis)inthebaby.
Radioactive iodine can worsen Grave's disease. Smoking is a risk factor for Grave's
disease.
HighdoseoralorivsteroidsarerequiredinGrave'seyedisease.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201261
BasicScienceQ060Whichoneofthefollowingconditionshasautosomaldominantinheritance?
A.OculocutaneousalbinismB.Betathalassaemia
C.Marfan'ssyndromeD.Wilson'sdiseaseE.XerodermaPigmentosa
Answer:c)Marfan'ssyndrome.
Marfan'ssyndrome inheritance isautosomaldominant.The restof theconditionsare
autosomalrecessive.
Thelistofautosomalrecessiveconditionsare:
oculocutaneousalbinism
alkaptonuria
Bartter'ssyndrome
cysticfibrosis
endemicgoitrouscretinism
galactosaemia
Gaucher'sdisease
glycogenstoragedisease
phenylketonuria
Wilson'sdisease
xerodermapigmentosa
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201262
BasicScienceQ061Activationofthecomplementcomponentsisassociatedwithpotentbiologicalfunctions
tocounteractinfections.
Whichofthefollowingactivatesratherthaninhibitsthecomplementpathway?
A.DAFB.CR1
C.C3bD.FactorIE.MCP
Answer:c)C3b.
C3b isanactive fragmentofC3,andcanactivate thealternativepathway.DAF,CR1,
FactorIandMCParecomplementpathwayinhibitors.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201263
BasicScienceQ062The thymus gland contains 3 major cell populationsepithelial, hemopoietic, and
accessorycells.
Whichofthefollowingcellsdevelopinthethymus?
A.MacrophagesB.Tcells
C.ErythrocytesD.BcellsE.Hairycells
Answer:b)Tcells.
Bcellsarenotonlyproducedinthebonemarrowbutalsomaturethere.However,the
precursorsofTcellsleavethebonemarrowandmatureinthethymus.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201264
BasicScienceQ063A55yearoldmalehasbeenaheavy smokerandhashadpreviousexposure tosilica
dust.HepresentstoA&Ewithworseninglongstandingbreathlessness.
HisarterialpHis7.36.pCO2of7.7kPaandpO2of7.7kPa.HisHCO3is32(2028)mmol/l
andBaseexcessis2.
Whichistheaccuratedescriptionofhisacidbasebalance?
A.MetabolicacidosiswithrespiratorycompensationB.Metabolicalkalosiswithrespiratorycompensation
C.RespiratoryacidosiswithmetaboliccompensationD.RespiratoryalkalosiswithmetaboliccompensationE.Normalaniongapmetabolicacidosis
Answer:c)respiratoryacidosiswithmetaboliccompensation.
There is chronic type2 respiratory failure causing respiratoryacidosisbecauseof the
hypoxiaandhypercapnia.ThisiscompensatedmetabolicallybyHCO3retentionandpH
isrestoredtowithinanormalrange.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201265
BasicScienceQ064
Whichis
the
structure
formed
by
the
roots
of
the
lumbar
and
sacral
nerves?
A.Falxcerebri
B.Amygdala
C.Cisterns
D.Medullaoblongata
E.Caudaequina
Answer:e)caudaequina.
Thecordistaperedatthelowerendtoformtheconusmedullaris.
Therootsofthelumbarandsacralnervesarelongandtheyformthecaudaequina.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201266
BasicScienceQ065A40yearoldwomanhasMELAS.
Whichofthefollowingiscorrectregardingtheriskofthegrandsonsandgranddaughters
havingthedisease?
A.Sonschildren100%,Daughterschildren100%B.Sonschildren0%,Daughterschildren100%
C.Sonschildren50%,Daughterschildren100%D.Sonsdaughters100%,Sonssons100%E.Daughtersdaughters100%,Daughterssons0%
Answer:B)Sonschildren0%,Daughterschildren100%.
Kearn Sayre's, MELAS, MERRF, progressive external opthalmoplegia, Leber's optic
atrophy aremitochondrially inherited diseases. Themitochondrial DNA is passed on
onlyfromthemothertoallchildren.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201267
BasicScienceQ066A 35 year old lady presentswithw asting of the quadriceps andweakness of knee
extension.There is lossof thekneejerkandsensory impairmentover thefrontofthe
thighandoverthesubcutaneoussurfaceofthetibia.
Thelikelylesionis:
A.PeronealnerveB.Brachialnerve
C.ObturatornerveD.FemoralnerveE.Sacralnerve
Answer:d)Femoralnerve.
Thefemoralnervesuppliesthe iliacusandpectineus,andthemusclesontheanteriorthigh.Thenervealsoprovidescutaneous filaments to the frontand inner sideof the
thighandtothelegandfoot(viasaphenousnerve).
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201268
BasicScienceQ067
Whichone
of
the
following
features
is
found
in
Neurofibromatosis
Type
1(NF1)?
A.Webbedneck
B.Calcinosis
C.Lensdislocation
D.LischNodules
E.Rothsspots
Answer:d)LischNodules.
Lischnodules (pigmented spots)of the iris arepresent inmore than90%ofpatients
withneurofibromatosis type1.Bilateralacousticneuromasareahallmark featureof
neurofibromatosistype2.
Thediagnosis issuggestedbysixormorecafau laitspots.Althoughthecondition is
autosomaldominant,almosthalfofallcasesarenewmutations.
LischNodules
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201269
BasicScienceQ068
A17yearoldladyhassmall,raisedlesionsonhertrunkandalsohasaxillaryfreckles.
Whatisthelikelymodeofinheritanceofthiscondition?
A.Autosomaldominant
B.Autosomalrecessive
C.Trinucleotiderepeats
D.Xlinkedrecessive
E.Xlinkeddominant
Answer:a)Autosomaldominant.
Theconditiondescribedisneurofibromatosis.Inheritanceisautosomaldominant.
ThegenedefectforNF1isonchromosome17,andforNF2isonchromosome22.
Neurofibromas
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201270
BasicScienceQ069
A35yearolddiabeticmanhas lossofsensationintheanteriorand lateralpartofthe
thigh.
Whichnerveislikelytobeaffected?
A.Sciaticnerve
B.Lateralcutaneousnerve
C.Glutealnerve
D.Pudendalnerve
E.Femoralnerve
Answer:b)lateralcutaneousnerve.
Traumaaroundtheinguinalligamentcanleadtodamageinthelateralcutaneousnerve
supplying the anterolateral portion of the thigh. It is a purely sensory nervewhich
travelslateraltothepsoasmuscle.
LateralCutaenousNerve(markedNCL)
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201271
BasicScienceQ070Which
of
the
following
enzymes
converts
glucose
to
glucose
6phosphate?
A.PhosphofructokinaseB.Glucokinase
C.HexokinaseD.FructokinaseE.Glucose6phosphatase
Answer:c)Hexokinase.
Hexokinase catalyses the conversion of glucose to glucose6phosphate, using a
phosphategroupdonatedfromATP.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201272
BasicScienceQ071Which
of
the
following
is
true
regarding
the
role
of
restriction
enzymes?
A.AnnealDNAtogetherB.SynthesizeDNA
C.AreinvolvedinthecellcyclearrestD.CutDNAE.DegradeDNA
Answer:d)CutDNA.
Restriction enzymes cut DNA at nucleotide sequences specific to each restrictionenzyme.
HindIIIandEcoRIareexamplesofrestrictionenzymes.DNA ligaseandpolymeraseare
involvedinjoiningandlinkingDNAtogether.
EcoR1asanexampleofarestrictionenzyme
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201273
BasicScienceQ072Respiratory distress syndrome can be associated with reduction of lung surfactant.
Surfactantisproducedinwhichcellinthelung?
A.AlveoliwhitecellsB.Vesselendothelium
C.TypeIIpneumocyteD.SmallcellE.Keratinocytes
Answer:c)typeIIpneumocyte.
LungsurfactantisproducedbytypeIIpneumocytes.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201274
BasicScienceQ073
A 22 year old cricket player presents with an injury to his right upper limb. On
examinationof the rightupper limb there is incompleteanddefectivepronation.The
wristflexorsareparalysedwhenexaminedagainstresistance.
Whenthisistestedthetendonofflexorcarpiulnarisstandsoutandthehandbecomes
ulnardeviated.FlexionoftheulnarTwofingers ispossiblealthough it isweakerthan
normal.Abductionandoppositionofthethumbisdefective.Thereissensorylossover
thelateralthreeandahalfdigitsofthehandandthelateralaspectofthepalm.
Theinjuryislocatedat:
A.Ulnarnerveatthewrist
B.Ulnarnerveattheelbow
C.Brachialnerve
D.Musculocutaneousnerve
E.Mediannerveattheelbow
Answer:e)Mediannerveattheelbow.
An injurytothemediannerveattheelbowcausesweaknessofpronatorteres,radial
flexorsof thewrist, the long finger flexorsexcept theulnarhalfof thedeep flexors,
mostofthemusclesofthethenareminenceandtheTworadiallumbricals.
Sensory lossoccursover the lateralthreeandahalfdigitsofthehandandthe lateral
aspectofthepalm.Theremayalsobevasomotorandtrophicchanges.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201275
BasicScienceQ074Which
of
the
following
is
true
regarding
autosomal
recessive
inheritance
involving
parentsandchildren?
A.Forparentswithoneaffectedchild,theriskofhavinganotheraffectedchildis1in2B.Forparentswithoneaffectedchild,theriskofhavinganotheraffectedchildis1in8
C.Unaffectedsiblingsofanaffectedchildhavea1in3chanceofbeingcarriersD.Unaffectedsiblingsofanaffectedchildhavea2in3chanceofbeingcarriersE.Unaffectedsiblingsofanaffectedchildaredefinitecarriers
Answer:d)unaffectedsiblingsofanaffectedchildhavea2in3chanceofbeingcarriers.
Thebestwaytounderstandistodrawafamilytreewiththeparentsbothbeingcarriers
oftherecessivegene[AAxandBBx]andfourpossibleinheritedcombinations[AB,AxB,
AxBandAxBx].
Forparentswithoneaffectedchild,theriskofhavinganotheraffectedchildis1in4.
Unaffectedsiblingshavea2in3chanceofbeingcarriersbecausethelastpossibilityof
bothrecessivegenesiseliminated(AxBx).
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201276
BasicScienceQ075WhichONEofthefollowingorganelleshaveselfreplicatingDNA?
A.EndoplasmicReticulumB.Golgiapparatus
C.PeroxisomeD.MitochondriaE.Lysosomes
Answer:d)Mitochondria.
Mitochondria have DNA, which can pass on inherited mitochondrial diseases (e.g.
MELAS/MERRF).
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201277
BasicScienceQ076
APlasmidbestdescribedas
A.ArecombinantsectionofDNA
B.BacterialDNAseparatefromchromosome
C.Multipleoriginsofreplication
D.ViralRNA
E.Consistofmultiplecopiesofasinglegene
Answer:b)bacterialDNAseparatefromchromosome.
Plasmids are circular molecules of bacterial DNA separate from the bacterial
chromosome.Theyareusuallysmall,consistingofafewthousandbasepairs.Theycarry
oneofafewgenesandhaveasingleoriginofreplication.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201278
BasicScienceQ077A30yearoldmanhasLipoproteinlipasedeficiency.Whichoneofthefollowingfeatures
ismostlikely?
A.MarkedhypercholesterolaemiaB.Reducedchylomicrons
C.MarkedhypertriglyceridaemiaD.FamilialHypercholesterolaemiaE.Combinedhyperlipidaemia
Answer:c)Markedhypertriglyceridaemia.
MutationsintheLPLgenecausefamiliallipoproteinlipasedeficiency.Thebreakdownofchylomicronsreleasesfatmoleculesforstorageinfat(adipose)cells
orforenergyuse.
Inheritanceisautosomalrecessive.Thebreakdownofchylomicronsreleasestriclyceride
molecules for storage in adipose cells or for energy use.Mutations in the LPL gene
preventlipoproteinlipasefrombreakingdownchylomicronseffectively,leadingtohigh
triglyceridelevelsintheplasma.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201279
BasicScienceQ078
Whichone
of
the
following
is
true
regarding
mitochondrial
DNA
diseases?
A.MitochondrialDNAisinheritedfromthefather
B.MitochondrialDNAiscomposedofacircularloopofdoublestrandedDNA
C.Mitochondrialgenomeencodesfornuclearproteins
D.MutationsofmitochondrialDNAoccursinmultiplesclerosisrelatedopticatrophy
E.SimvastatindepletesmusclemitochondrialDNA
Answer:b)MitochondrialDNAiscomposedofacircularloopofdoublestrandedDNA.
MitochondrialDNAisinheritedfromthemother.MitochondrialDNAcodesforproteins
in theoxidativephosphorylation /electron transportchain. Leber'sopticatrophy isa
formofmitochondrialdisease.AZT (zidovudine) is anexampleof adrugwhichdoes
depletemusclemitochondrialDNA.
MitochondrialDNA
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201280
BasicScienceQ079
Whichof
the
following
is
degraded
to
uric
acid?
A.Uracil
B.Thymine
C.Cytosine
D.Guanine
E.Oroticacid
Answer:d)Guanine.
The purine bases adenine and guanine are degraded to uric acid. Adenosine and
Xanthinearealsometabolisedtouricacid.Uracil,thymine,cytosineandoroticacidare
pyrimidinebases.
PurineMetabolism
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201281
BasicScienceQ080Whichoneofthefollowingfeaturesdoestrinucleotiderepeatdisordersexhibit?
A.AnticipationB.Linkage
C.MethylationD.ReductionE.Genomicimprinting
Answer:A)anticipation.
Trinucleotiderepeatdisorderstypicallyworsenifthereareexpansioninthenumbersof
repeats.This is labeledanticipation.Therepeatsmaybe involved incodingsequences
ofproteinse.g.inHuntingtons.FragileXsyndromecausescognitiveimpairment.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201282
BasicScienceQ081
A35yearoldpatienthasahigharchedpalateandaortic regurgitation.Hehasa tall
stature,andupwardslensdislocation.
Whichgeneabnormalitydoeshehave?
A.Myosin
B.Actin
C.Fibrillin
D.Spectrin
E.Ankyrin
Answer:c)fibrillin.
InMarfan'ssyndrome,amutationinagenecausesadefectinthebody'sproductionof
fibrillin,animportantbuildingblockofconnectivetissue.Inmanyfamilieswithinherited
Marfan'ssyndrome,themutationaffectstheFBN1geneonchromosome15.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201283
BasicScienceQ082
A30yearoldwomanhas recentlydeliveredababy.Shecomplainsofgroinpains.On
examination,shehasweaknessofadductionand internalrotationofthehip.There is
sensoryimpairmentoverthemedialaspectofthethigh.
Whichnerveisaffected?
A.Femoralnerve
B.Sciaticnerve
C.Sacralnerve
D.Obturatornerve
E.Lateralcutaneousnerveofthethigh
Answer:d)Obturatornerve.
Theobturatornervesuppliesgracilis,theadductor(longus,brevis,magnus)andtheskin
overthemedialaspectofthethigh.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201284
BasicScienceQ083Astudyrevealsanimmediateriseinbloodpressurefollowinginfusionofahormoneina
groupofvolunteers.
Whichofthefollowinghormonesislikelytohavebeenused?
A.AngiotensinIB.AngiotensinII
C.GrowthhormoneD.AtrialnatriureticpeptideE.Brainnatriureticpeptide
Answer:b)angiotensinII.
ThefinalactivemessengerofthereninangiotensinpathwayisangiotensinII.
AngiotensinIIbindstoAT1receptorstocausevasoconstrictionandfluidretention,both
ofwhich lead toan increase inbloodpressure.Angiotensin II receptorblockers lower
bloodpressurebyblockingtheAT1receptors.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201285
BasicScienceQ084A36yearoldmanhasgynaecomastiasecondarytocirrhoticliverdisease.
Whatislikelytohavecausedthegynaecomastia?
A.ReducedtestosteroneproductionB.Increasedtestoteronemetabolism
C.IncreasedoestrogenproductionD.ReducedoestrogenmetabolismE.IncreasedLHlevels
Answer:D)reducedoestrogenmetabolism.
Gynaecomastiainliverdiseaseisduetoanimbalanceinandrogenandoestrogenlevels,
themaincontributorbeingreducedoestrogenmetabolism.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201286
BasicScienceQ085
A30 yearoldmalepresentshas intermittentjaundice and anaemia.He isdiagnosed
withglucose6phosphatedehydrogenase(G6PD)deficiency.HiswifehasnormalG6PD
activity.
Whatisthelikelihoodoftheirchildrendevelopingtheconditionphenotypically?
A.Alltheirchildrenwillbeaffected
B.Alltheirsonswillbeaffected
C.Alltheirdaughterswillbeaffected
D.50%oftheirdaughterswillbeaffected
E.Noneoftheirchildrenwillbeaffected
Answer:e)Noneoftheirchildrenwillbeaffected.
Glucose6phosphatedehydrogenase (G6PD)deficiencyhasX linked inheritance.The
affectedpatienthasachromosomeXxYandwife isXX.Thereforealldaugherswillbe
carriersXxXandallsonsnormalXY.NoneofthesepatientswillhavephenotypicalG6PD
deficiency.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201287
BasicScienceQ086A40yearoldmanhasG6PDdeficiency.
Whichoneofthefollowingsubstancesislikelytoleadtoredcellhaemolysis?
A.ChloroquineB.Paracetamol
C.TrimethoprimD.ErythromycinE.Bakedbeans
Answer:a)chloroquine.
Oxidativestresscanbecausedbydrugssuchaschloroquine,quinine,primaquineand
sulphonamide (sulfomethoxazole), nitrofurantoin, NSAIDs, dapsone and aspirin. Fava
beanscanalsocausehaemolysis.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201288
BasicScienceQ087Which
one
of
the
following
cells
secretes
intrinsic
factor?
A.PancreaticisletcellsB.Panethcells
C.GastricparietalcellsD.HepatocytesE.Myocytes
Answer:C)gastricparietalcells.
Intrinsicfactorissecretedbythegastricparietalcells.Itisaglycoproteinwhichbindsto
vitaminB12best inanacidenvironment. It then releasesvitaminB12 in the terminal
ileumwhereproteasesdigestthebindingproteinsand vitaminB12isabsorbed
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201289
BasicScienceQ088A33yearoldmanhasmyotonicdystrophy.
Whichoneofthefollowingfeaturesisthediseaselikelytoexhibit?
A.DecreasingincidencewithgenerationsB.Skipsgenerations
C.AnticipationD.ApoptosisE.Mutation
Answer:c)Anticipation.
Anticipationreferstoincreasingseveritywithsubsequentgenerations.ItiscommonintrinucleotiderepeatdisorderslikeHuntington'sdisease,myotonicdystrophyandfragile
Xsyndrome,wheretripletrepeatmutationsinDNAareimplicated.
Themechanismbehind theexpansionof the triplet repeats is littleunderstood.One
theoryisthattheincreasingnumberofrepeatsinfluencetheoverallshapeoftheDNA,
which can have an effect on its interaction with DNA polymerase and thus the
expressionofthegene.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201290
BasicScienceQ089A46yearoldwomancomplainsofnumbness inher lefthand.Onexamination, there
was loss of sensation over the thumb and first 2 fingerswith paralysis of abductor
pollicisandopponenspollicis.
Whichnerveisinjured?
A.MedianB.Ulnar
C.RadialD.PosteriorinterosseousE.Anteriorinterosseous
Answer:A)median
Themediannervesuppliesthefollowingsmallmusclesinthehands:
Abductorpollicisbrevis
Opponenspollicis
Flexorpollicisbrevis
1st&2ndlumbricals
Thesensorysupplyistopalmarsurfaceofthumb,2nd,3rd&lateral1/2of4thfinger
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201291
BasicScienceQ090
Whichofthefollowingisatumoursuppressorgene?
A.Ras
B.Cmyc
C.Nmyc
D.P53
E.Src
Answer:d)p53.
Mutatedprotooncogenesthatcausecancerarecalledoncogenes.Alloftheaboveare
oncogenes except forp53.Ras oncogene is involved in sporadic tumours (colon and
lung) and rhabdomyosarcomas. cmyc translocationoccurs in Burkitt's lymphoma.N
myc protooncogene is seen in neuroblastoma. SRC oncogene is associated with
sarcoma.p53isatumoursuppressorgene.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201292
BasicScienceQ091A 18 year oldman presents to casualty complaining of difficulty breathing. He had
collapsedshortlyafterbeingstungonthe legbyawasp.Onexamination,hispressure
was80/40mmHg,andtherewassignificantfacialswelling.
Whichoneofthefollowinginvestigationsislikelytoconfirmthenatureofreaction?
A.WasptoxinlevelsB.SerumcomplementC3level
C.SerumcomplementC4levelD.SerumtotalIgElevelE.Plasmatryptaseactivity
Answer:d)SerumtotalIgElevel.
This is a form of Type I hypersensitivity, also known as immediate anaphylactic
hypersensitivity. It usually takes 15 to 30minutes from the time of exposure to the
antigen.ThereactioninvolvesproductionofIgE, inresponsecertainantigens,whichin
turninitiatesasequenceofevents.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201293
BasicScienceQ092
Whichone
of
the
following
conditions
exhibit
genomic
imprinting?
A.Abetalipoproteinaemia
B.Patau'ssyndrome
C.PraderWillisyndrome
D.Down'ssyndrome
E.MotorNeurondisease
Answer:c)PraderWillisyndrome.
Genomicimprintingisexhibitedbythefollowingconditions:
PraderWillisyndrome
Angelmansyndrome
BeckwithWiedemannsyndrome
Genomicimprinting Diseaseseveritydependsonwhetheritispaternallyormaternally
inherited.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201294
BasicScienceQ093
Whichof
these
receptors
helps
as
areceptor
to
allow
HIV
to
enter
activated
Tcells?
A.CD4
B.CD8
C.CXCR4
D.CCR4
E.CCR3
Answer:c)CXCR4.
CCR5andCXCR4arecoreceptorswhichhelpHIVbinding (gp120 toCD4 receptor) to
activatedTcells.
CD4moleculesareknown toplayacentral role,butCXCR4 (fusin)andCCR5arealso
involved,possiblybyremovinggp120fromtheHIVparticle,thusexposinggp41,which
isnecessaryforthemembraneattachmentofHIV.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201295
BasicScienceQ094A 40 year old man with pleurisy for five days was assessed. A moderately sized
pneumothoraxwasseeninachestradiograph.
HisarterialbloodgasesonairshowedpH7.44,PaCO23.0kPa,PaO230.5kPa,standard
bicarbonate16mmol/l.
Howcantheclinicalpicturebeexplained?
A.RespiratoryacidosisB.Compensatedmetabolicalkalosis
C.CompensatedmetabolicacidosisD.CompensatedrespiratoryalkalosisE.Compensatedrespiratoryacidosis
Answer:d)compensatedrespiratoryalkalosis.
ThispatienthadanormalpHbuthadbothalowPaCO2andalowstandardbicarbonate.
Thehistoryindicatesfivedaysofhyperventilation,sothisislikelytobeacompensated
respiratoryalkalosis.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201296
BasicScienceQ095
An18yearoldmalewithmeningococcalmeningitishas further investigations. Itwas
foundthathehadlowproperdinlevelsmeasuredbytheELISAtest.
Howisthislikelytohavebeeninherited?
A.Autosomaldominant
B.Autosomalrecessive
C.Xlinkedrecessive
D.Xlinkeddominant
E.Mitochondrialinheritance
Answer:C)Xlinkedrecessive.
Thepathwaysincludetheclassicpathway(C1qrs,C2,C4)andthealternativepathway
(C3, factor B, properdin). Properdin is a protein encoded on the X chromosome.
ProperdinstabilizestheC3convertase(C3bBb)ofthealternativepathway, involvedin
opsonisation. Meningococcal disease is a prominent manifestation in a significant
fractionofreportedcasesinallclinicalpatternsofcomplementdeficiency,particularly
those where opsonisation is defective. Properdin deficiency states are Xlinked
recessive, while other genetic defects within the complement system appear to be
transmittedasautosomalrecessivetraits.
ComplementPathways
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201297
BasicScienceQ096Northernblottingisaprocesswhichinvolvesdetectionofwhichofthefollowing?
A.ImmunoglobulinsB.Proteins
C.VirusesD.RNAE.DNA
Answer:d)RNA.
NorthernblottingdetectsRNA,whilstSouthernblottingdetectsDNA.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201298
BasicScienceQ097
Amedicalstudentreviewsthephysiologyoftheoxygendissociationcurve.
WhichoneofthefollowingisassociatedwithincreasedaffinityofHbforoxygen?
A.Chronichypoxia
B.Anaemia
C.Increased2,3DPG
D.Coldtemperature
E.Diabeticketoacidosis
Answer:d)coldtemperature.
Acidosis,raised2,3DPG,raisedtemperature,hypoxiaandanaemiaallshifttheO2Hb
dissociationcurvetotheright,leadingtoreducedaffinitytoO2.
OxygenDissociationCurve
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 201299
BasicScienceQ098ApatientwithCrohnsdiseaseandanileostomyhasthefollowingresults:
Na134(135145mmol/l)
K3.1(3.55mmol/l)
Cl112(92107mmol/l)
Bicarbonate12(2030mmol/l)
Urea13(3.28.1mmol/l)
Creatinine120(70110mmol/l)
pH7.25(7.357.45kPa)
PaCo23.1(3.55kPa)
Thediagnosisislikelytobe:
A.NormalaniongapmetabolicacidosisB.Metabolicalkalosis
C.RespiratoryalkalosisD.RespiratoryacidosisE.Hypochloraemicmetabolicacidosis
Answer:a)Normalaniongapmetabolicacidosis.
Aniongap=(Na+K) (Cl+HCO3),[normalrange1018mmol/L].Inthiscase(134+3.2)
(112+12)=13.1.
Lowbicarbonate in thepresenceofacidosissuggestsametaboliccause, theprobable
causeinthiscaseisgastrointestinalbicarbonateloss.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012100
BasicScienceQ099A 40 year old patient has had EMGs done to investigate a cause of peripheral leg
weakness.
Whichofthefollowingfeaturessuggestsaxonalneuropathy?
A.LatencyB.Reducedconductionvelocity
C.ReducedmuscleactionpotentialamplitudeD.DecreasedfrequencyofconductionsignalsE.Conductionblock
Answer:c)reducedmuscleactionpotentialamplitude.
Reduced amplitude of action potential is seen in axonal neuropathy. Reduced
conductionvelocityorconductionblockisseenindemyelination.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012101
BasicScienceQ100Which
of
the
following
are
found
in
both
eukaryotic
AND
prokaryotic
cells?
A.LinearDNAB.Ribosomes
C.ChromosomesD.NuclearmembraneE.Introns
Answer:b)Ribosomes.
Eukaryotes (higher organisms) have muliple chromosomes in a genome which is
separated from the rest of the cell by a nuclear membranes. Prokaryotes lack a
membrane bound nucleus, their DNA occurs in a circular form. Transcription of
eukaryoticgenesrequiresnoncodingsequences(introns) inthemRNAwhich isspliced
out before translation at the ribosome. Both eukaryotes and prokaryotes have
ribosomes.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012102
BasicScienceQ101Which
of
the
following
is
characteristically
inherited
in
an
autosomal
recessive
manner?
A.AdultpolycystickidneydiseaseB.C1esteraseinhibitordeficiency
C.SicklecelldiseaseD.AchondroplasiaE.Familialhypercholesterolaemia
Answer:c)Sicklecelldisease.
Sickle cell disease is inherited in an autosomal recessive manner (sickle cell trait is
inheritedinanautosomaldominantmanner).
Achondroplasia, adult polycystic kidney disease, C1 esterase inhibitor deficiency
(hereditaryangiooedema)andfamilialhypercholesterolaemiaareusuallyinheritedinan
autosomaldominantmanner.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012103
BasicScienceQ102
Whichone
of
the
following
statements
describes
genomic
imprinting?
A.Expansionofrepeatswithtime
B.Genotypicvariabilityfrommaternalandpaternalchromosomes
C.Phenotypicpresentationdependsoneithermaternalorpaternalchromosome
D.Imprintingofmutationsongenomes
E.Mendelianinheritance
Answer: c) phenotypic presentation depends on either maternal or paternal
chromosome.
Genomic imprinting refersto thedifference inphenotypicpresentationdependingon
theoriginofthediseasechromosomefromeithermaternalorpaternal.
Genomic imprinting The imprinting"mark" isrepresentedbyastippledbox,and the
imprintedstateisindicatedwithanX.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012104
BasicScienceQ103
Phosphorylationofproteintyrosineresiduesisassociatedwithwhichofthefollowing?
A.Proteinsynthesis
B.DNAreplication
C.Proteosomaldegradation
D.Cellsignalingpathways
E.Proteindegradation
Answer:D)cellsignalingpathways.
Protein tyrosine kinases (PTKs) are enzymes which catalyze the phosphorylation of
tyrosine residues. These enzymes are involved in cellular signalling pathw ays and
regulatekeycellfunctionssuchasproliferation,differentiation,antiapoptoticsignalling
andneuriteoutgrowth.Unregulatedactivationoftheseenzymes,throughmechanisms
suchaspointmutationsoroverexpression,canleadtovariousformsofcanceraswell
asbenignproliferativeconditions.Indeed,morethan70%oftheknownoncogenesand
protooncogenesinvolvedincancercodeforPTKs.
TyrosineKinaseReceptor
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012105
BasicScienceQ104
Amanwithmildbleedingdisorder isbeing considered for aspirin for acute coronary
syndrome.
Whichoneoftheeffectsofaspirinisbeneficialincoronaryarterydisease?
A.ReductioninthromboxaneA2synthesis
B.Increaseintheprostaglandins
C.GlycoproteinIIBIIIAreceptorinhibition
D.ADPreceptorantagonism
E.IncreaseinCOXenzymes
Answer:a)reductioninthromboxaneA2synthesis.
AspirinblocksthesynthesisofCOX1andCOX2enzymes.
This leads to a reduction in the prostaglandin PGG2, PGH2 thromboxane TXA2
synthesis .Thisleadsto plateletaggregation.
Aspirinaction(salicylates)
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012106
BasicScienceQ105A 12 year old child is investigated for multiple skin abscesses. Swabs grow
staphylococcusaureus.Hiscousinhaddiedfromaserioussepticillnessafewyearsago.
Whatformofimmunedeficiencyisthechildlikelytohave?
A.EosinophilB.Neutrophil
C.ComplementD.LymphocyteE.ImmunoglobulinA
Answer:B)neutrophil.
Primary neutrophil deficiencies are rare and are due to an abnormality, usually
inherited,oftheneutrophil itself.Theproblemcanaffectphagocytosis(e.g.deficiency
ofanadhesionmolecule,CD18/LFAdeficiency,ontheneutrophilsurface).Patientswith
neutrophil defects suffer from recurrent chest infections with bacteria or fungi,
recurrent skin abscesses often caused by Staphylococcus aureus and poor wound
healing.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012107
BasicScienceQ106
A40yearoldmanattendsafertilityclinic.Examinationshowsthathe istall,thinand
hasbilateralgynaecomastia.
Investigationshowhighlevelsofurinarygonadotrophins.
Whatisthelikelydiagnosis?
A.Homocystinuria
B.Marfansyndrome
C.Testicularfeminisationsyndrome
D.Noonan'ssyndrome
E.Klinefelter'ssyndrome
Answer:e)Klinefelter'ssyndrome.
Klinefelter's syndrome is the most common chromosomal disorder associated with
malehypogonadismand infertility. It isdefinedclassicallybya47,XXYkaryotypewith
variantsdemonstratingadditionalXandYchromosomes.
The syndrome is characterized by hypogonadism (small testes,
azoospermia/oligospermia), gynecomastia at late puberty, psychosocial problems,
hyalinization and fibrosis of the seminiferous tubules, and elevated urinary
gonadotropins.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012108
BasicScienceQ107Which
one
of
the
following
amino
acids
is
thyroxine
derived
from?
A.LeucineB.Glycine
C.CystathioneD.TryptophanE.Tyrosine
Answer:e)Tyrosine.
Eachmoleculeof thyroxine isderived fromTwo tyrosinemoleculesand three (T3)or
four(T4)iodinemolecules.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012109
BasicScienceQ108
A30yearmanhasacuteonsetofpainaroundhislefteye.Onexamination,hehasaleft
ptosisandasmallleftpupilbutbothreactnormallytolight.Visualacuity,fieldsandeye
movementsarenormal.Thesiteofinjuryistowhichofthefollowing?
A.Midbrain
B.Superiorcervicalganglion
C.Stellateganglion
D.Pons
E.Geniculateganglion
Answer:b)superiorcervicalganglion.
The diagnosis is Horner's syndrome. The sympathetic nerve fibres from the
hypothalamus travel throughbrainstemandcervicalcord toT1/T2.These synapseon
preganglionic sympathetic fibres, travel up sympathetic chain to superior cervical
ganglion,and then synapseontopostganglionic fibreswhich travelwithcommonand
internalcarotidarteries.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012110
BasicScienceQ109Two strainsofStaphaureusare isolatedandbothare resistant toampicillin.Strain1
retains its resistance to amplicillin when grown from multiple generations in the
absenceofampicillin.Howeverstrain2losesitsresistancewhengrownintheabsence
ofampicillin.
Whichofthefollowingbestexplainsthelossofantibioticresistanceinstrain2?
A.AmpicillinhaseliminatedresistantbacteriaB.Variabilitywithgenerations
C.TranspositionofanothersequenceintotheresistancegeneD.ChangesinbacterialDNAligaseE.Lossofaplasmidcontainingtheresistancegene
Answer:e)Lossofaplasmidcontainingtheresistancegene.
Bacteria develop resistance to antibiotics by gaining genes which encode particular
proteinswhich offer protectionorganism. Sometimes this occursbymutation but at
other times gene may be acquired from another bacterial species. The genes are
containedinplasmids(circularsegmentsofDNA)separatefrombacterialchromosome.Plasmidscaneasilyspreadfromonebacteriaorequally lost.Transfer, lossandgainof
plasmidsarerelativelycommoncomparedtosinglemutations.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012111
BasicScienceQ110Apatienthasthefollowingbloodresults.
sodium131mmol/l
potassium4.5mmol/l
urea5mmol/l
creatinine100 mol/l
glucose12mmol/l
Whatisherplasmaosmolality?
A.262B.267
C.279D.280E.290
Answer:C)279.
Plasmaosmolalityisestimatedbythefollowingformula2xNa+Urea+glucose.262+5
+12=279(mmol/kg).Anexample:highserumosmolalitycouldbecausedbyHONK.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012112
BasicScienceQ111
Thelevel
of
cellular
telomerase
activity
will
affect
which
of
the
following?
A.Celldeath
B.Thenumberofpotentialcelldivisions
C.RNAsynthesis
D.Therateofcellgrowth
E.Cellsurvival
Answer:b)Thenumberofpotentialcelldivisions.
The telomere is a DNA sequence at end of each chromosome which becomes
progressivelyshorterwitheachdivisionthecellundergoes.Theenzymetelomerase is
ablethelengthentelomerethuspreventingthelimitationtowardscelldivision.
TelomeraseActivity
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012113
BasicScienceQ112
Whichof
these
areas
is
involved
in
the
pupillary
reflex?
A.Occipitalcortex
B.Stellateganglion
C.Trochlearganglion
D.Vestibularnucleus
E.Ciliaryganglion
Answer:e)ciliaryganglion.
Thepathwayofthepupillarylightreflexconsistsof:retinalreceptorcells,bipolarcells,
ganglion cells,opticnerveand tract, lateral geniculatebodies, superior colliculus and
pretectal nucleus of the high midbrain, EdingerWestphal nucleus, efferent Two
neuronepathw ay via theoculomotornerve (IIIrdnerve), ciliary ganglion, constrictor
muscleoftheiris.
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Dr.Khalid Yusuf Elzohry SohagTeachingHospital 2012114
BasicScienceQ113Which
one
of
the
following
is
the
best
indicator
of
osteoblastic
activity?
A.AspartateaminotransferaseB.Calcium
C.AlbuminD.AlkalinephosphataseE.Leucocytes
Answer:D)alkalinephosphatase.
Bonealkalinephosphatase(BALP) isproducedbytheosteoblast It isan indexofearly
os