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Pediatrics Best R.

1) The following laboratory results were returned in a 6 week old boy admitted with 6 days of severe projectile vomiting: pH P ! P" ! #lood $rea %odium Potassium "hloride 7.51 (7.35-7.45) 12 KPa (95 mmHg) 4.7 KPa (35 mmHg) 11 mmol/l 131 mmol/l 3 mmol/l 83 mmol/l

&hich of the following is true concerning this patient' (vailable marks are shown in brackets 1 ) He has respiratory alkalosis 2 ) He is likely to ha#e a $%lgi&g a&terior 'o&ta&elle 3 ) He sho%l( $e res%s)itate( imme(iately *ith &ormal sali&e He sho%l( $e )omme&)e( imme(iately o& hal' stre&gth soy protei&+ lo* la)tose 4) 'orm%la 5 ) ,-ray o' a$(ome& is likely to sho* (ilate( loops o' small $o*el

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Comments: He has a metabolic, rather than respiratory alkalosis as CO2 is not reduced. He is likely to have a sunken fontanelle as he is very dehydrated.
Pylori) ste&osis *o%l( highly likely as $e)a%se o' the age a&( hypo)hloraemi)+ hypokalaemi) meta$oli) alkalosis. He sho%l( $e res%s)itate( *ith &ormal sali&e 'irst. -ilate( $o*el *o%l( &ot $e e.pe)te(+ as pylori) rather tha& small $o*el o$str%)tio& is prese&t. !) ( ) year old girl presents with a * day history of rash and ankle swelling+ %he had a cold , weeks previously- but has otherwise been healthy+ *./10,1- !+.6kg+ 2o neonatal problems+ 2o drugs or medications+ 3ully immuni4ed+ n e5amination she has palpable non6blanching purple spots 16, mm in diameter especially over the shins and buttocks+ Her left ankle is swollen- warm and tender- with restricted movement+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) /iral i&'e)tio& !" 2) 0ra%ma/ )hil( a$%se !" 3) 1trepto)o))al i&'e)tio& !" 4) /as)%litis eg H1P 1!!" 5) 0hrom$o)ytopae&ia !" "omments: 0he history is o' pre)e(i&g 2304 'ollo*e( $y #as)%litis o& the shi&s a&( $%tto)ks+ a&( a&kle s*elli&g. 0his is )lassi)al o' He&o)h-1)ho&lei& p%rp%ra. 0he pathologi)al lesio& is a #as)%litis+ he&)e the lesio&s are o'te& palpa$le. 4& )o&trast throm$o)ytopae&i) p%rp%ra are &ot raise(. 0he )lassi)al 'eat%res are rash+ 5oi&t s*elli&g+ haemat%ria+ a&( 64 symptoms (#omiti&g+ a$(omi&al pai&+ P3 $lee(i&g+ o))asio&al i&t%ss%s)eptio&). *) ( ! month old baby is admitted with sei4ures and failure to thrive+ 3ollwoing a sei4ure he is found to have a blood glucose concentration of 1+! mmol0l+ ther biochemistry reveals a lactic acidosis and hyperlipidaemia+ 75amination reveals hepatomegaly with

Pediatrics Best R.

palpable kidneys+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 6a%)her7s (isease !" 2) 8)9r(le7s (isease !" 3) :iema&&-Pi)k (isease !" 4) Pompe -isease !" 5) /o& 6ierke (isease 1!!" "omments: 0his $a$y has hypogly)aemia a))o%&ti&g 'or 'its+ asso)iate( *ith la)ti) a)i(osis a&( hepatomegaly *hi)h *o%l( poi&t to a (iag&osis o' von 8ierke9s disease. 0his is a gly)oge& storage (isease (%e to (e'i)ie&)y o' gl%)ose-;-phosphatase. 6ly)oge& is store( i& $oth li#er a&( ki(&ey )a%si&g e&largeme&t. <oth 8aucher a&( 2iemann6Pick (isease are lipi( storage (isor(ers. :c(rdle9s (isease is a gly)oge& storage (isease a''e)ti&g m%s)le rather tha& li#er as is Pompe9s (isease. :either *o%l( $e e.pe)te( to pro(%)e pro'o%&( hypogly)aemia. ,) ( 1; month old child with fle5ural ec4ema presents with a * day history of cough and whee4e+ There is a family history of hay fever+ n e5amination his saturations are .!< in air- with a respiratory rate of ;;0min and moderate recession+ The heart rate is 1;10min+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 6astroesophageal re'l%. 2) 9llergi) rhi&itis 3) 1i&%sitis 4) 9sthma 5) =ro%p

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Comments: This child has virus-induced whee e on an atopic back!round. He may well be an early asthmatic, in which case recurrent episodes of cou!h and whee e can be anticipated.

;) (n overweight twelve year old boy attends (/7 complaining of hip and knee pain after a minor fall from his bike+ n e5amination his knee appears normal but there is restricted range of movement at the hip+ The likely diagnosis is: (vailable marks are shown in brackets 1) =ho&(romalai)hae patella 2) >steosar)oma 3) Perthe?s (isease

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4) 5)

1epti) arthritis 1lippe( %pper 'emoral epyphesis

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Comments: "lipped upper femoral epyphesis is most common in obese, adolecent boys with a positive family history. 2#$ are bilateral. %resentation may be with a co&al!ic e&ternally rotated !ait, decreased internal rotation, thi!h atrophy and hip, thi!h and knee pain.
6) ( 1; year old boy presents with a painful lower right arm after falling from his motorbike+ =6ray reveals a fracture of the distal radius+ &hat is the name for this fracture' (vailable marks are shown in brackets 1) <e&&ett7s 'ra)t%re !" 2) =olle7s 'ra)t%re 1!!" 3) 6alea@@i7 s 'ra)t%re !" 4) 8o&teggia7 s 'ra)t%re !" 5) Pott7s 'ra)t%re !" "omments: #ennett9s fracture is a& i&tra-arti)%lar 'ra)t%re o' the $ase o' the 'irst meta)arpal. 8alea44i9s fracture i&#ol#es the ra(ial sha't *ith (islo)atio& o' the (istal ra(io%l&ar 5oi&t. Pott9s fracture is a ge&eral term applie( to 'ra)t%res aro%&( the a&kle.

)) ( 1! day old girl presents with poor feeding- vomiting and lethargy+ #orn at *)/60,1!+.>kg- no neonatal problems+ $ncomplicated pregnancy and delivery+ 2o drugs or medications+ 2o immuni4ations+ 2o 3H0%H of note+ n e5amination she is thin and wasted+ %he has occasional twitching of the eyelids and mouth+ %he responds slightly to voice+ &eight ?*<- 3" !;<- temperature is *6+;@" Atympanic)- BB ,10min- HB 1;10min+ "hest clear- no murmur+ 2o organomegaly+ 2o rash or dysmorphic features+ &hat is the most likely diagnosis' (vailable marks are shown in brackets

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'

1) 2) 3) 4)

=o&ge&ital a(re&al hyperplasia =o&ge&ital heart (isease 4&$or& errors o' meta$olism 1epsis

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Comments: This child is dehydrated, vomitin! and lethar!ic. (&amination su!!ests possible subtle fits. )lthou!h infection and a cardiac abnormality are possible, a metabolic condition should be stron!ly suspected. (valuation should include electrolytes, *H+, blood !ases, serum and urine aminoacids, and urine or!anic acids.
>) ) year old girl presents with high fever and severe left6sided throat pain+ %he has had difficulty in swallowing over the last ! days- and has been finding it increasingly uncomfortable to open her mouth+ Her voice is muffled and she dribbles saliva+ %he was born at ,10,1 gestation weighing ,+1kg and there were no neonatal problems+ n e5amination she looks ill+ Her temperature is ,1+!@" Atympanic)- BB 1;0min and HB 1110min+ 72T e5amination shows left tonsillar enlargement and e5udate- with a uvula deviated to the right+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 3etrophary&geal a$s)ess 2) Aoreig& $o(y aspiratio& 3) 9&aphyla.is 4) =ro%p 5) Perito&sillar a$s)ess

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Comments: The history su!!ests a peritonsillar abscess ,-uinsy. on the left side, a complication of /roup ) "trep. sore throat. ) fever !reater than '0.+1C is associated with severe disease, and treatment is by sur!ical draina!e.

.) 3eeding difficulties in the neonatal period may be due to all of the following e5cept: (vailable marks are shown in brackets 1) Premat%rity. !" 2) Hiat%s her&ia. !" 3) =ere$ral $irth tra%ma. !" 4) Physiologi)al 5a%&(i)e 1!!" 5) =o&ge&ital heart (isease !" "omments: 9ll o' the optio&s are asso)iate( *ith 'ee(i&g (i''i)%lty e.)ept 'or physiologi)al 5a%&(i)e *hi)h is $e&ig&+ shortli#e( a&( &ot ge&erally asso)iate( *ith symptoms. 11) 3eatures of CownDs syndrome include all of the following e5cept: (vailable marks are shown in brackets

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1) 9 thir( 'o&ta&elle. !" 2) -%o(e&al atresia. !" 3) 9ta.i) gait. 1!!" 4) 4&)rease( i&)i(e&)e o' hypothyroi(ism. !" 5) 1%s)epti$ility to a)%te le%kaemia !" "omments: =ere$ellar (ys'%&)tio& is &ot a 'eat%re o' -o*&?s sy&(rome+ ho*e#er a& 9l@heimer?s like sy&(rome o' memory loss a&( )og&iti#e (e)li&e (e#elops *he& patie&ts rea)h the mi( thirties. 11) &hich of the following statements regarding messenger B2( AmB2() is correct' (vailable marks are shown in brackets 1 ) m3:9 &e#er )o&tai&s i&tro&s. !" 2 ) m3:9 is tra&slate( i&to protei&s i& the &%)le%s. !" 3 ) m3:9 )o&tai&s the $ases )ytosi&e a&( thymi&e. !" 3e#erse tra&s)riptase %ses m3:9 as a template to pro(%)e )ompleme&tary 4) 1!!" -:9. 5 ) m3:9 is %se( i& the 1o%ther& $lotti&g te)h&iB%e. !" "omments: 0he str%)t%re o' m3:9 is similar to -:9 e.)ept that %ra)il repla)es thymi&e as o&e o' the $ases. <oth )o(i&g (e.o&s) a&( &o&-)o(i&g regio&s o' -:9 are i&itially tra&s)ri$e( i&to m3:9. 1pli)i&g is reB%ire( 'or mat%re m3:9 to $e pro(%)e( o&ly )o&sisti&g o' i&tro&s. 0ra&slatio& o))%rs i& the )ytoplasm. 1o%ther& $lotti&g is a te)h&iB%e that %ses (e&at%re( 'ragme&ts o' -:9 i& a gel to $i&( to -:9 pro$es i& or(er to (ete)t the prese&)e o' parti)%lar ge&es or seB%e&)es o' -:9. 0he e&@yme re#erse tra&s)riptase )a& $e %se( $y #ir%ses to i&sert #iral m3:9 i&to the host ge&ome.

1!) &hich of the following is a recogni4ed treatment for complications of cystic fibrosis' (vailable marks are shown in brackets 1 ) -:9ase to assist i& rei&'lati&g )ollapse( l%&g segme&ts. 2 ) 3e)tal p%ll-thro%gh a&( a&astamosis 'or re)tal prolapse. 3 ) Pa&)reati) tra&spla&t 'or (ia$etes mellit%s. :e$%lise( 0o$ramy)i& 'or pse%(omo&as )olo&i@atio& o' the lo*er respiratory 4) tra)t. 5 ) Hypoto&i) sali&e (ri&ks 'or hyper&atraemi) (ehy(ratio&.

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Comments: Human recombinant 2*)ase !iven as a sin!le daily aerosol seems to improve pulmonary function, decrease the fre-uency of chest e&acerbations, and promotes a sense of well-bein! in patients with mild to moderate disease with purulent secretions. This may be because, in the inflamed airway, the nuclei from dead cells accounts for much of the viscidity of secretions. 3ectal prolapse is usually idiopathic, occurrin! between 1 and # years. 4ntestinal parasites, malnutrition, acute diarrhoea, ulcerative colitis, pertussis, (hler5s 2anlos "yndrome, menin!ocele, cystic fibrosis, and chronic constipation can also predispose to it. 6ollowin! defecation the prolapse usually resolves spontaneously, or throu!h manual reinsertion by the patient or parent. *ebulised Tobramycin or Gentamicin may be !iven when airway patho!ens are

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resistant to oral antibiotics, or where infection is difficult to control at home. Hypernatramic dehydration should be treated in the usual way.
1*) "haracteristic features of physiological jaundice include all of the following e5cept: (vailable marks are shown in brackets 1) >&set a'ter the 'irst 24 ho%rs o' li'e. !" 2) -isappeara&)e $y the te&th (ay o' li'e. !" 3) 9 ser%m $ilir%$i& le#el $elo* 25! mmol/C. !" 4) :ormal 'ee(i&g $eha#io%r !" 5) 9sso)iate( a&aemia. 1!!" "omments: Physiologi)al 5a%&(i)e o))%rs i& 9!D o' i&'a&ts a&( ma&i'ests a'ter the 'irst 2-3 (ays o' li'e it is relate( to i&)rease( re( )ell $reak(o*& a&( relati#e Eimmat%rity? o' hepati) '%&)tio&. 9&aemia i' prese&t *o%l( imply pathologi)al )a%se o' 5a%&(i)e eg haemolyti) a&aemia.

1,) ( * year old by presents with a !d history of cory4a and cough- particularly at night+ n e5amination he has Harrison9s sulci and is on the *rd centile for weight and height+ "hest auscultation reveals scattered whee4e+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 6astroesophageal re'l%. 2) 9llergi) rhi&itis 3) 1i&%sitis 4) 9sthma 5) =ro%p

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Comments: The e&amination findin!s su!!est chronic undertreated asthma. 4f he does not respond rapidly to asthma therapy a sweat test may be indicated to e&clude C6. 4t is likely that he will respond to re!ular inhaled low-dose steroids.
1;) ( , year old girl is referred with behavioural problems+ Her speech is generally well6 formed+ However- she finds it difficult to sustain conversations because she talks obsessively about her own interests+ %he avoids eye contact+ %he plays on her own for hours with her dolls- dressing and undressing them repeatedly+ (ttempts to play with others results in tantrums JKL EFGHI+ #orn at *./60,1- *+1>kg no neonatal problems+ 2o drugs- allergies+ 3ully immuni4ed+ 2o 3H0%H of note+ n e5amination she is on the ;1< for height and weight+ There are no specific

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abnormalities to find+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 1pee)h (elay+ isolate( 2) Per#asi#e (e#elopme&tal (isor(er 3) 6lo$al (e#elopme&tal (elay 4) 4mpaire( heari&g 5) 9%tism

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Comments: This child has problems with reciprocal social interaction, with repetitive obsessive play. Her speech is normal in form. These symptoms are characteristic of Asperger syndrome. This is part of the spectrum of %ervasive 2evelopmental 2isorders, and is re!arded by some as 5hi!h-functionin! autism5. "uch children may be re!arded as eccentric by their peers.

16) ( . year old boy presents with a history of headache and persistent green nasal discharge+ (t night he has a cough and snores loudly+ The headache is e5acerbated by leaning forwards+ n e5amination he is apyre5ial- but has a persistent nasal obstruction and nasal speech+ He is tender over the ma5illae and forehead+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 6astroesophageal re'l%. 2) 9llergi) rhi&itis 3) 1i&%sitis 4) 9sthma 5) =ro%p

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Comments: The picture is one of upper airways obstruction associated with nasal dischar!e, most likely due to sinusitis. 4n this case the ma&illary and frontal sinuses are most likely to be involved.
1)) 1; year old boy is knocked out for ! minutes while playing rugby+ He recovers rapidly- but cannot recall the incident+ (part from mild asthma reMuiring beta6agonists before sport he is otherwise well+ n e5amination his temperature is *6+;@" Atympanic)- BB 1!0min and HB 6;0min+ His 8"% is 1;01; and no focal neurological abnormalities are present+ &hat is the most likely diagnosis'

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(vailable marks are shown in brackets 1) =hil( a$%se 2) Hea( i&5%ry 3) Hypogly)aemia 4) -ia$eti) ketoa)i(osis 5) 1%$sta&)e a$%se

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Comments: He has had a traumatic concussion, which refers to a diffuse brain in9ury. 4t is not necessary to be knocked out to have concussion. The Colorado :edical "ociety !uidelines !rade such in9uries into ' !roups;
1. =o&'%sio& alo&e 2. =o&'%sio& a&( am&esia 3. =o&'%sio&+ am&esia a&( loss o' )o&s)io%s&ess 0o a#oi( the 1e)o&( 4mpa)t 1y&(rome ret%r& to sport sho%l( $e allo*e( a'ter 2! mi&s (gro%p 1)+ 1 *eek (gro%p 2) or 1 mo&th (gro%p 3) respe)ti#ely. 1>) ( 1) year old student presented with recurrent attacks of di44iness+ &hich one of the following additional features is most suggestive that she has an an5iety disorder' (vailable marks are shown in brackets 1) ele#ate( (iastoli) $loo( press%re !" 2) &o)t%ria !" 3) paraesthesiae i& the ha&(s 1!!" 4) rotatio&al #ertigo !" 5) ti&&it%s !" "omments: Parasthesiae is o'te& asso)iate( *ith a&.iety o' a&y (es)riptio&. 3otatio&al #ertigo a&( ti&&it%s s%ggest a& orga&i) (isor(er+ *hilst a&.iety (isor(er *o%l( &ormally $e asso)iate( *ith raise( systoli) $loo( press%re 1.) ( young boy is presents with aches and pains+ &hich of the following features would argue against a diagnosis of osteomalacia' (vailable marks are shown in brackets 1) <o* legs !" 2) raise( alkali&e phosphatase !" 3) Co* ser%m phosphate le#el !" 4) :ormal ser%m )al)i%m !" 5) a(#a&)e( $o&e age 1!!" "omments: =li&i)al 'eat%res i&)l%(eF $o*i&g o' ti$ia a&( 'i$%la+ )ra&iota$es (so't sk%ll)+ thi)ke&i&g o' 'orearm at the *rist+ a&( o' the )osto )ho&(ral 5%&)tio& (ra)hiti) rosary). -ietary /itami& (e'i)ie&)y stim%lates se)o&(ary hyperparathyroi(ism+ *hi)h )a%ses i&)rease( re&al e.)retio& o' phosphate+ lo* ser%m phosphate+ a&( re(%)e( %ri&ary )al)i%m e.)retio&. =al)i%m )o&)e&tratio&s may $e lo* or lo* &ormal. 3aise( alkali&e phosphatase res%lts 'rom osteo$lasts 'ormi&g %&mi&eralise( matri.. 1hort stat%re a&( (elaye( $o&e age are asso)iate(+ rather tha& a(#a&)e( $o&e age.

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!1) ( 16 year old girl presents with a ! day history of deteriorating breathlessness and dyspnoea+ #lood gas analysis shows a pH of )+!;- a P" ! of )+1kPa- a P ! of >+;kPaand a base e5cess of 6,+ &hich of the following interpretations is correct' (vailable marks are shown in brackets 1 ) 3es%lts are )o&siste&t *ith $ro&)hop%lmo&ary (ysplasia. 2 ) <loo( gases s%ggest type 1 respiratory 'ail%re. 3 ) 4mme(iate i&t%$atio& is reB%ire(. 4 ) 3es%lts are )o&siste&t *ith late se#ere asthma. 5 ) <i)ar$o&ate may $e &e)essary to )orre)t the a)i(osis.

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Comments: 4n interpretin! blood !as results, the followin! se-uence may be useful;
4&spe)t the pHF 4s it lo*+ &ormal or highG 4&spe)t the =>2F 4s it lo*+ &ormal or highG 4&spe)t the P>2F 4s it lo*+ &ormal or highG

4' the pH is lo* the& a& a)i(osis is prese&t+ a&( i&spe)ti&g the => 2 *ill e&a$le yo% to (etermi&e *hether this is (%e to respiratory or meta$oli) )a%ses. 4&spe)ti&g the P> 2 *ill tell yo% *hether the patie&t is hypo.i) or &ot. 4& this )ase+ the pH is re(%)e(+ a&( the => 2 is high+ *ith a $ase (e'i)it o' o&ly -4+ i&s%''i)ie&t to e.plai& the a)i(osis 'rom meta$oli) )a%ses. 0his is+ there'ore+ a respiratory a)i(osis+ a&( the P>2 is also lo* s%ggesti&g type 2 respiratory 'ail%re. Possi$le )a%ses *o%l( i&)l%(e se#ere p&e%mo&ia+ e&( stage asthma or &e%roge&i) )a%ses s%)h as g%illai&-<arre. 4& asthma+ the i&itial stages sho* a lo* => 2+ *ith this )lim$i&g o&ly to a))ompa&y 'aili&g respiratio&. 0he res%lts *o%l( there'ore $e )o&siste&t *ith late se#ere asthma. 4& $ro&)hop%lmo&ary (ysplasia+ there is %s%ally lo&g-term => 2 rete&tio& *ith )ompe&satory i&)rease i& $i)ar$o&ate lea(i&g to a positi#e $ase e.)ess a&( &ormal pH. <i)ar$o&ate is %s%ally o&ly )o&si(ere( i' the $ase (e'i)it e.)ee(s a$o%t -8.

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!1) (n 1> month old boy because of maternal concerns about delayed speech+ He was born at *./,0,1 weighing !+6kg and there were no neonatal problems+ He sat at 1!01!and now pulls to stand+ He is able to make a tower of ! inch6high bricks+ He is saying !6* single words which his mother can understand and seems to hear well+ He drinks from a bottle+ He is fully immuni4ed- on no medications- and there is no 3H0%H of note+ n e5amination he looks well+ He is on the !;th centile for height and weight and There are no specific findings of note+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 1pee)h (elay+ isolate( 2) Per#asi#e (e#elopme&tal (isor(er 3) 6lo$al (e#elopme&tal (elay 4) 4mpaire( heari&g 5) 9%tism 3"+

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Comments: The history su!!ests moderate !lobal developmental delay. He is functionin! at about the 12 month level in !ross motor, fine motor and vision, hearin! and speech, and social development. The history !ives no indication of an underlyin! cause for the delay. ) detailed developmental assessment should be performed plus investi!ations for an underlyin! cause. )t minimum these should include T6Ts and karyotype to rule out Fragile X Syndrome. Other investi!ations may be indicated if a specific disorder is suspected.
!!) ( 1; month old girl presents with stridor and respiratory distress+ %he has had a crusty nasal discharge for ! days with low grade fever+ %he went to bed as usual at >pmbut awoke ! hours later+ Previous history was unremarkable+ n e5amination she has a fever of *)+>@" Atympanic)- BB of ;;0min Acrying)- and HB of 1;10min+ %he has marked stridor with moderate recession and a barking cough+ ! saturations are .;< in air+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 3etrophary&geal a$s)ess 2) Aoreig& $o(y aspiratio&

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1=

3) 4) 5)

9&aphyla.is =ro%p Perito&sillar a$s)ess

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Comments: The history su!!ests a viral croup ,laryn!otracheobronchitis.. Oral de&amethasone or inhaled budesonide are effective in reducin! symptoms, but are not re-uired in mild cases. 3eassurance of the mother often calms down both child and mother.
!*) ( 1, year old girl presents with a history of cough and breathlessness on e5ercise+ %he has seasonal rhinitis- and admits to have started smoking+ "linical e5amination is unremarkable+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 6astroesophageal re'l%. 2) 9llergi) rhi&itis 3) 1i&%sitis 4) 9sthma 5) =ro%p

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Comments: ) typical history of asthma in later childhood, with e&ercise-induced symptoms and a !eneral deterioration on commencement of smokin!. >nfortunately this is all too common these days.
!,) ( 11 year old boy attends (/7 with a two day history of a limp+ He has recently been unwell+ n e5amination he is apyre5ial and movement at his hip is uncomfortable+ (vailable marks are shown in brackets 1) =o&ge&etal (islo)atio&. 2) Perthes (isease 3) 1epti) arthritis 4) 1lippe( %pper 'emoral epiphesis 5) tra&sie&t sy&o#itis

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Comments: Transient synovitis is the most common cause of hip pain in childhood but other more serious causes should be e&cluded before it is dia!nosed. The cause is unknown but it can be related to viral infection, aller!ic reaction or trauma.

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11

!;) ( . week old infant is brought in unresponsive+ :other says she has well apart from episodes of screaming every evening- which last several hours at a time+ %he was born at *>/!0,1 weighing *+1kg and there were no neonatal problems+ Parents are unmarried teenagers+ n e5amination she has * small possible bruises on her face+ %he has a temperature of *,+;@"- BB *10min Airregular pattern)- HB 1*10min+ %he is floppy with a full fontanelle+ 3undoscopy shows flame6shaped haemorrhages+ #: sti5 is *+. mmol0l+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) =hil( a$%se 2) Hepati) 'ail%re 3) Hypogly)aemia 4) -ia$eti) ketoa)i(osis 5) 1%$sta&)e a$%se

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Comments: The history su!!ests a previously healthy child with colic of ine&perienced parents. The facial bruisin! su!!ests !rip marks. /iven the full fontanelle, comatose state of the child, and flame-shaped haemorrha!es, Sha en baby syndrome is most likely. 4t is important to e&clude infection with 24C or a coa!ulopathy.
!6) ( ! year old child presents with delayed language development+ He was born at term weighing *+!1kg and there were no neonatal problems+ 8ross motor- vision and fine motor development are normal+ :other complains that he 9doesn9t listen9 especially when he is in another room+ His speech is restricted to single words- and only mother understands them+ n e5amination he is apyre5ial- BB 160min- HB .10min+ 2o dysmorphic features+ "hest is clear- there is no murmur nor organomegaly+ 72T e5amination reveals normal tonsilsclear nose and bilaterally dull drums+ &hat is the most likely diagnosis'?N (vailable marks are shown in brackets 1) 1pee)h (elay+ isolate( 2) Per#asi#e (e#elopme&tal (isor(er 3) 6lo$al (e#elopme&tal (elay 4) 4mpaire( heari&g 5) 9%tism

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Comments: The child has hearin! impairment and isolated lan!ua!e delay. The e&amination su!!ests bilateral 5!lue ear5 ,Otitis media with effusion.. This usually resolves with time, thou!h it may re-uire tympanostomy tube insertion. These children often need
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"peech Therapy input.


!)) ( * year old girl presents with a ; day history of neck pain and fever- with increasing difficulty in swallowing+ ver the previous night she woke several times with difficulty in breathing+ %he was born at *6/60,1 weighing !+>kg and there were no neonatal problems+ n e5amination her head held to the right+ %he has audible stridor when agitated- and she has very tender glands in the neck+ Her temperature is *>+6@"- BB !10min and HB 1110min+ %he has moderate neck stiffness+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 3etrophary&geal a$s)ess 2) Aoreig& $o(y aspiratio& 3) 9&aphyla.is 4) =ro%p 5) Perito&sillar a$s)ess

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Comments: The history su!!ests a tonsillitis pro!ressin! to retropharyn!eal abscess with increasin! upper airways obstruction. (*T e&amination in children with stridor should take place where facilities are available for immediate intubation. 4n this case it revealed a massively enlar!ed ri!ht tonsil with profuse e&udate. This re-uired sur!ical draina!e and removal with antibiotic cover.
!>) ( !+; year old boy is referred with behaviour problems and poor speech+ He speaks very seldom- and is unable to sustain a conversation+ He always prefers to play on his own- lining up his Thomas the Tank engine set repetitively- ignoring his older and younger siblings+ He throws tantrums when his routine is disturned+ He was born at *)/*0,1 weighing *+;1kg and there were no neonatal problems+ Pregnancy had been uncomplicated+ n e5amination he is apyre5ial- and there are no specific abnormalities to find+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 1pee)h (elay+ isolate( 2) Per#asi#e (e#elopme&tal (isor(er 3) 6lo$al (e#elopme&tal (elay 4) 4mpaire( heari&g 5) 9%tism

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Comments: The history is of poor speech development, ritualistic behaviour and lack of reciprocal social interaction. The most likely dia!nosis is )utism, which starts before '= months of a!e and is characteri ed by a -ualitative impairment in verbal and nonverbal communication, in ima!inative activity, and in reciprocal social interactions. 4t is part of the wider spectrum of pervasive developmental disorders. This includes; autism, )sper!ers, childhood disinte!rative disorder, and 3ett5s syndrome.

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!.) ( 1! year old boy complains of persistent clear nasal discharge during the spring and summer+ He constantly rubs his nose and his eyes+ %ometimes he has an associated cough+ The symptoms usually get better in the autumn+ He was diagnosed with asthma at ! years- but this has improved with age+ He rarely reMuires beta agonist inhaler+ n e5amination he has a clear nasal discharge- nasal speech- and pink non6purulent conjunctivae+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 6astroesophageal re'l%. 2) 9llergi) rhi&itis 3) 1i&%sitis 4) 9sthma 5) =ro%p

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Comments: This atopic boy has classical symptoms of seasonal rhinitis. )lthou!h skin prick testin! may be helpful in resistant cases, it is usual to treat sufferers symptomatically with oral antihistamines or topical steroids to eyes and nose.
*1) ; month old boy has had a mild cory4a for ! days+ :other hears him making odd noises on the baby monitor+ &hen she investigates she finds him floppy- pale and not breathing+ %he stimulates him- attempts mouth6to6mouth resuscitation and calls an ambulance+ They give bag ventilation and he starts breathing again+ ! is given on the way to hospital+ #orn at *!0,1 gestation weighing 1+)kg he reMuired *d ventilation for surfactant6deficient lung disease+ %ince discharge he has been thriving+ n arrival at hospital he is self6ventilating in facemask o5ygen- with saturations of .,<+ Temperature is *)+>@"- with BB *;0min- mild recession- and HB of 1,10min+ %cattered coarse crepitations are audible in both lung fields+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 9)%te li'e-threate&i&g e#e&t 2) =ar(ia) (ysrhythmias 3) 1ei@%res 4) 1%((e& i&'a&t (eath sy&(rome

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Comments: This child has 3T4 followed by acute life-threatenin! event ,)?T(.. There are a lar!e number of potential causes. 4n this case bronchiolitis is most likely, !iven the e&amination findin!s.
*1) ( * year old child presents with delayed speech+ (lthough he seems to understand full sentences and commands he says only occasional single words+ He was born at ,10,1 weighing *+,kg and there were no neonatal problems+ He is fully immunised- on no medications- and comes from a middle class articulate family+

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n e5amination he is on the !;th centile for height- weight and 3"+ There are no specific abnormalities to find+ 72T e5amination is unremarkable+ &hat is the most likely diagnosis' (vailable marks are shown in brackets 1) 1pee)h (elay+ isolate( 2) Per#asi#e (e#elopme&tal (isor(er 3) 6lo$al (e#elopme&tal (elay 4) 4mpaire( heari&g 5) 9%tism

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Comments: The history is of isolated speech delay in a child who apparently hears normally. Hearin! should be formally checked, as it is the commonest reason for speech delay.4n this case the problem involves mainly e&pression rather than reception of speech. "uch speech problems may interfere si!nificantly with schoolin!.
*!) The parents of an eight year child divorce+ The child lives with his mother with his father visiting at weekends+ n his father9s visits- the child is sullen and irritable but when his father leaves the boy cries- clings to his father and askes his father to come back to live with his mother+ &hat is the most appropriate response that the father can make during these episodes' (vailable marks are shown in brackets 1 ) <ig $oys (o&7t )ry !" 2 ) 4 le't yo%r mother $%t 4 am &ot lea#i&g yo%. 1!!" 3 ) 4 *ill see yo% &e.t *eeke&( !" 4 ) Ho% take )are o' the ho%se &o* 47#e le't !" 5 ) 1orry so& $%t 4 5%st )o%l(&7t li#e *ith yo%r mother !" "omments: 0he )hil(7s rea)tio&s typi)ally represe&t a 'eeli&g o' a$a&(o&me&t a&( it is importa&t that his 'ather rea''irms that he is &ot lea#i&g his so&.

**) (n infant is diagnosed with pyloric stenosis+ &hich of the following is true of this diagnosis' (vailable marks are shown in brackets 1 ) 0ypi)ally prese&ts $et*ee& ; a&( 12 mo&ths o' age. 2 ) 4s more )ommo& i& 'emales. 3 ) 0here is a stro&g 'amilial pre(ispositio&. 4 ) 4s (%e to hypertrophy o' the lo&git%(i&al m%s)le layer o' the pylor%s.

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5 ) Prese&ts *ith $ile-stai&e( pro5e)tile #omiti&g. !" "omments: 4&'a&tile hypertrophi) pylori) ste&osis prese&ts most )ommo&ly at appro.imately ; *eeks o' age. 4t is more )ommo& i& $oys *ith a maleF 'emale ratio o' 4F1. 0here is a stro&g 'amilial pre(ispositio& *ith 5D o' a''e)te( i&'a&ts ha#i&g a mother *ho also (e#elope( the pro$lem. Pathologi)ally+ the pylori) 7t%mo%r7 arises 'rom hypertrophy the )ir)%lar m%s)le layer. Patie&ts prese&t *ith pro5e)tile #omiti&g that is &ot $ile stai&e(. Aollo*i&g res%s)iatio& a&( )orre)tio& o' a&y ele)trolyte a$&ormality+ s%rgi)al treatme&t is $y pyloromyotomy. *,) ( study has been designed to investigate whether a certain drug plus physiotherapy treatment is better than drug treatment alone in the management of rheumatoid arthritis+ (fter randomi4ing the patients a small proportion of the drug plus physiotherapy group decide to drop out of the study or omit some treatment sessions specified in the research protocol+ &hat is the correct way of analysing the subseMuent data' (vailable marks are shown in brackets 1 ) 9ss%me the patie&ts ha#e *ith(ra*& their )o&se&t !" 2 ) I.)l%(e these patie&ts 'rom all a&alysis !" 3 ) I.te&( the trial re)r%itme&t to make %p the &%m$ers !" 4 ) 4&)l%(e these patie&t o%t)omes i& the (r%g pl%s physiotherapy gro%p 1!!" 5 ) 4&ter#ie* the patie&ts a&( report their gro%p separately !" "omments: 0his is the pri&)iple o' 7i&te&tio& to treat7. 4t is possi$le that the physiotherapy i&ter#e&tio& *as harm'%l to the patie&ts a&( this is *hy they le't. 4&te&tio& to treat helps to re(%)e $ias $y sti)ki&g to the origi&al allo)atio& o' treatme&t a&( a&aly@i&g the patie&t i& that treatme&t gro%p e#e& (a&( )o&)e&trate 'or this $it) e#e& i' they (o&77t get itJ

*;) ( 1) year old female presents with acute breathlessness+ %he has had asthma for appro5imately * years and recently commenced new therapy+ &hich agent may be responsible for this e5acerbation' (vailable marks are shown in brackets 1) 1almeterol 1!!" 2) 0heophylli&e !" 3) <e)lomethaso&e !" 4) 4pratropi%m $romi(e !" 5) 8o&tele%kast !" "omments: 1almeterol has $ee& reporte( to pro(%)e a& a)%te e.a)er$atio& o' asthma+ possi$ly thro%gh a& a)%te hyperse&siti#ity rea)tio&.

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*6) ( 1) year old male is brought to clinic as his parents are concerned about changes in his behaviour+ &hich of the following suggest a diagnosis of %chi4ophrenia' (vailable marks are shown in brackets 1 ) i&)o&gr%ity o' a''e)t KLMNXYZ VRMSW U PQRMSTO KLMNO 1!!" 2 ) a%(itory hall%)i&atio&s *ith )lo%(i&g o' )o&s)io%s&ess !" 3 ) memory impairme&t !" 4 ) 'eeli&gs o' pa&i) i& $%ses a&( shops !" 5 ) gra&(iose i(eatio&s !" "omments: 4&)o&gr%ity o' a''e)t is emotio& i&appropriate to )ir)%msta&)es. 0here may $e i&telle)t%al (e'e)ts 'rom prolo&ge( i&stit%tio&i@atio& ]MdMeYZ abc ]M^_`XQ POM[\Z or treatme&t rather tha& the ill&ess itsel'. 9%(itory hall%)i&atio&s *ith )lo%(i&g o' )o&)io%s&ess s%ggest (eliri%m a&( memory impairme&t possi$le orga&i) $rai& (isease. 0he pa&i) i& )ro*(s s%ggests a& a&.iety (isor(er a&( gra&(iose i(eatio&s s%ggest hypoma&ia *)) (n 1> year old female is reluctant to eat food that is prepared for her+ &hich one of the following would be most consistent with a diagnosis of anore5ia nervosa' (vailable marks are shown in brackets 1) she $elie#es the 'oo( is poiso&e( !" 2) she has a '%ll-time 5o$ 1!!" 3) she has $o%ts o' hea#y (ri&ki&g !" 4) she regar(s hersel' as ill !" 5) she se)retly a$%ses a&a$oli) steroi(s !" "omments: (nore5ia nervosa is asso)iate( *ith the a$&ormal per)eptio& o' $o(y image. 0hey ge&erally 'eel *ell (espite the protestatio&s o' others *ho 'eel that they look a*'%l. 0hey e.er)ise a#i(ly a&( %&til the #ery late stages o' the (isease hol( (o*& '%ll time 5o$s. 0here is &o (el%sio& *ith regar( to the 'oo( $ei&g poiso&e(. Hea#y (ri&ki&g asso)iate( *ith 'oo( re'%sal *o%l( s%ggest al)oholism a&( al)oholi) gastritis. 0he se)reti#e a$%se o' la.ati#es *o%l( 'it *ith the (iag&osis rather tha& a&a$oli) age&ts.

*>) &hich of the following organelles contains en4ymes responsible for the digestion of constituents of cells and tissues' (vailable marks are shown in brackets 1) e&(oplasmi) reti)%l%m 2) 6ogli apparat%s 3) lysosomes 4) mi)rot%$%les 5) mito)ho&(ria

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Comments: The lysosomes contain the en ymes and molecules such as o&idases, free radical etc responsible for the breakdown of intracellular components. :icortubules are involved in mitotic processes and intracellular transportation. The mitochondria produce ener!y for cellular functions.

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*.) &hich one of the following is true regarding protein metabolism' (vailable marks are shown in brackets 1 ) 0here are 5 esse&tial ami&o a)i(s. !" 0he a$se&)e o' a&y o' the esse&tial ami&o a)i(s res%lts i& a &egati#e &itroge& 2) 1!!" $ala&)e Protei& )o&stit%tes a$o%t 3!-45D o' total (aily )alorie i&take i& i&'a&ts a&( 3) !" )hil(re& 4 ) Isse&tial ami&o a)i(s )a& $e sy&thesi@e( i& the li#er a&( ki(&eys !" H%ma& milk as the o&ly 'oo( pro#i(es a& i&s%''i)ie&t so%r)e o' protei& 'or a 1 5) !" year ol( healthy i&'a&t "omments: 0here are 9 esse&tial ami&o a)i(sf all are reB%ire( to mai&tai& &itroge& $ala&)e. =ar$ohy(rates )o&stit%te 3!-45D o' total )alori) i&take i& )hil(re&. Isse&tial ami&o a)i(s )a&&ot $e sy&thesi@e( a&( m%st $e o$tai&e( 'rom the (iet. H%ma& milk )o&tai&s the protei&s )asei&+ la)toglo$%li& a&( la)tal$%mi&+ *hi)h pro#i(e a s%''i)ie&t so%r)e o' protei&.

,1) (poptosis is the process of programmed cell death and occurs in cells that have damaged C2(+ ( mediator of this process is a tumour suppressor gene that inhibits mitosis and promotes apoptosis+ This gene is:6 (vailable marks are shown in brackets 1) $)l-2 !" 2) )aspases !" 3) 'as (=-95) !" 4) p53 1!!" 5) ras !" "omments: $)l-2 is a& i&hi$itor o' apoptosis. 'as is a )ell re)eptor a&( )aspases are prese&t i& all )ells $oth promote apoptosis $%t are &ot t%mo%r s%ppressor ge&es. ras is a& o&)oge&e.
ghi)h o&e o' the 'ollo*i&g )o&(itio&s is tra&smitte( $y mea&s o' a& ,-li&ke( re)essi#e i&herita&)e F (vailable marks are shown in brackets 1) =ysti) 'i$rosis 2) 6ala)tosaemia 3) H%&ti&gto&?s )horea 4) -%)he&&e m%s)%lar (ystrophy 5) Aa)io-h%mero-s)ap%lar (ystrophy

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"omments: =ysti) 'i$rosis a&( 6ala)tossaemia are a%tosomal re)essi#ely i&herite( )o&(itio&s. Haemophilia a&( -%)he&&e m%s)%lar (ystrophy are ,- li&ke( re)essi#e a&( Aa)io-h%mero-s)ap%lar (ystrophy a&( H%&ti&gto&?s )horea are i&herite( i& a& a%tosomal (omi&a&t ma&&er. 9 1! year ol( )hil( is 'o%&( to ha#e &e%ro'i$romatosis. ghi)h o' the 'ollo*i&g stateme&ts )orre)tly appliesF (vailable marks are shown in brackets 1 ) 1he *ill most pro$a$ly $e me&tally retar(e( !" 2 ) 0he 'i&(i&g o' 2 )a'h a% lait spots i& her ; year ol( si$li&g s%ggests he may $e a''e)te( !" 3 ) Her )o&(itio& *as i&herite( i& a& a%tosomal re)essi#e 'ashio& !" 4 ) Are)kli&g o' the $a)k *o%l( $e e.pe)te( !" 5 ) 0here may $e &o 'amily history o' the )o&(itio& 1!!" "omments: 8e&tal retar(atio& may $e a )li&i)al 'eat%re o' the )o&(itio& $%t is &ot a %s%al )li&i)al 'eat%re. 1i. or more )a'h a% lait spots $e'ore the age o' p%$erty *o%l( assist i& maki&g a (iag&osis+ alo&g *ith other )li&i)al 'i&(i&gs s%)h as Cis)h &o(%les+ a&( opti) &er#e gliomas. 0he )o&(itio& is a%tosomal (omi&a&t. Are)kli&g o' the i&g%i&al a&( a.illary regio&s o))%r. 3!-5!D o' &e* )ases are (%e to spo&ta&eo%s m%tatio&s. ghi)h o' the 'ollo*i&g stateme&ts applies to 'ragile , sy&(romeG (vailable marks are shown in brackets 1 ) 8e&tal retar(atio& is 'o%&( i& all males !" 2 ) 8e&tal retar(atio& is &ot 'o%&( i& 'emales !" 3 ) =ytoge&eti) 'i&(i&g o' 'ragile-, is i&(%)e( i& a #itami& <12 (e'i)ie&)y )%lt%re me(i%m !" 4 ) 9''e)te( )hil(re& are taller tha& a#erage 1!!" 5 ) 0he )o&(itio& )a& o&ly $e (iag&ose( a'ter $irth. !" "omments: 9''e)te( males are %s%ally $%t &ot al*ays me&tally retar(e( .>&e thir( o' 'emales *ith the m%tatio& *ill $e me&tally retar(e(. 0he (iag&osis o' 'ragile , sy&(rome *as origi&ally $ase( o& the e.pressio& o' a 'olatese&siti#e 'ragile , site (, B27.3) i&(%)e( i& )ell )%lt%re %&(er )o&(itio&s o' 'olate (epri#atio&. 9''e)te( )hil(re& are taller a&( may ha#e high ar)he( palate+ lo&g ears+ a lo&g 'a)e a&( ma)ro or)hi(ism. -iag&osis )a& $e ma(e $y (ete)tio& o' the m%ta&t A83 1 ge&e $y )horio&i) #ill%s sampli&g + )o&'irmatory am&io)e&tesis may $e reB%ire( i& some )ases.

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