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Basic Science 2012 Mrcppass

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    BasicScience

    [email protected]

    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


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