Beruflich Dokumente
Kultur Dokumente
·for MRCPCI-J
.
~ Volume· 2,
~. '•"
. z·_ ... . w
1
j'
Edited by ' .
and
.. + •••
.··ttl· ..
PASTEST
Dedicated to your success
© 2004 PasTest Ltd
Egerton court
Parkgate Estate
I
I
I
Kimtsford I
Cheshire, WA 16 BOX
All rights reserved. No part of this publication may be reproduced, stored in?
retrieval system. or transmitted. in any form or by any means, electronic. ·
mechanical, photocopying, recording or otherwise without the prior permission
of the copyright owner.
ISBN: I 904627 33 I
A catalogue record for this boOk is available from the British Library.
., . . .
The mformation contained \\ithin this book was obtained by the authors from
reliable source~ However, while every effort has been made to ensure its
accuracy no resp<-nsibility for loss. damage dr injury occasioned to any person
acting or reframing from action as a result of information contained herein can
be accepted by the publisher or the authors. ·
iii
Contributors List
Specialist Registrar
1 Paediatric Medical Unit
Southampton General Hospital
Southampton
... iv
CONTRIBUTORS LIST
London
~ "' . .
v
Introduction
These revision texts have been written to accompany Essential Revision Notes
in Paediatrics for the MRCPCH but are also relevant for part one of the DCH
examination. The questions, in the new format are designed to help facilitate
revision for the MRCPCH part one examination. The books are split by subject
to aid revision planning. Each question has.a detailed explamition and so the
text can be used as a stand alone revision aid. ·
The candidate is advised to consult the RCPCH website for up to' date
information regarding the exam. The information below is taken from the
website and is correct at the time of going to press.
The MRCPCH Part One examination consists of two papers.
Paper One A (I}asic Child Health) will focus on the areas of child health that
are relevant to those who will be working with children in their mediCal
careers. not just those entering mainstream hospital-based paediatrics. The
areas to be tested will be those conditions likely tope seen in 6 to 12 months
of hospital, community or primary care practice.
Paper One B (Extended Paediatrics) will focus on the more complex paediatric
problem-solving skills not tested in Papef One A. and on the scientific
knowledge underpinning paediatrics. This is equivalent to the current
MRCPCH Part One paper.
candidates for MRCPCH must successfully complete both Paper One A and ·
One B before being allowed to enter MRCPCH Part 1\vo..
Paper One A (Basic Child Health) \viii replace the current Diploma in Child
Health (DCH) written papers.
The papers will consist of
.
Multiple true-false questions used to test knowledge when there is an
absolute Yes/No answer.
Best of Five questions used to test judgement and experience. A simple
statement' or short clinical scenario leads into ti\·e options. All could be
possible but only one is completely or the most correct. The candidate has to
choose the best option.
Extended matching questions (EMQ~) are used in the same way as Best of
Five questions. In this case a Jist of I 0 possible answers is offered with three
statements or clinical scenarios. The candid.3te choosesthe best option from
vi
• - - · · - - - - · - _r ,; ___;,.
the introductory list. Agairi: e~il could be.possible·but only one is completely or
the most correct.
·.. fJ.J,1rther~9et~ls<;>n t!le mal<~I!IP ofthethree.types ofqtae~ions a,re oznhe
cOllege Website·. There ate·aiso:doWnloadable sample:papers;whi~li strc>UlO:be
reviewed.· ·
We are indebted in the production of this book: to the many authors who have
enthusia?tically contributed chapters and to Kirsten Baxter at Pastest for her
enthusiasm and eXpertise in helping pull the book: together.
Mark .Beattie
Mike Champion
]une2004
vii
l't
Katy Fidler and Emrl)a· Lim
~~!"'~~!l.t~·!l:Tl!!1@lll!O!~··;r;<qq111Slllll<lil:::lt«<€B~re>il··~~~,a;~~tlli-II!E~Vil!l"'·ac~~~7,;V.!':<:"'~
0 A £nterobacter
.r... ;
0 ·B rotavirus i j
0 D enterovirus lj I
0 E Campy/obacter
'' ,. '
ESSENTIAL QUESTIONS FOR MRCPCH
··- 0
0
D tinea capitis
E molluscum contagiosum
10. A 9-month-old child with croup, who has marked stridor at rest
and a barking cough, should be treated Y.ith ,.
0 A nebulised adrenaline (epinephrine)
0 B nebtilised salbutamol
0 c intravenous antibiotics
O D oral dexamethasone or nebulised budesonide
0 E intramuscular adrenaline
2
.1~ -·-·
INFECTIOUS DISEASES
• t
3
·r : "
J
:-.
. •"
:·>'
··,
.
~
(/) .. 15. A 2-year-old presents with a mass itt the right side of the neck,
thought to be an enlarged cervical lymph node. The following·
s::: would be included in the differential diagnosis
0 0 A atypical tuberculosis
·- 0
0
0
0
B cat scratch fever
c lymphoma
D Rubella infection
E Toxopla~mosis infection
4
.I
INFECTIOUS DISEASES
5
ESSENTIAL QUESTIONSfO_R MRCPCH
25. Which one of the following children does NOT require specific
varicella zoster immunoglobulin (VZIG) after .being exposed to a
case of chickenpox?
0 A A child currently on chemotherapy
0 B A child who had a bone marrow transplant 1 month ago
0 C A child with a kidney transplant who is on immunosuppressive
treatment
0 D A child who has had prednisolone I mg/kg for the last 6 weeks
0 E A child who had prednisolone 2 mg/kg for 3 days 1 week ago
-.
.6 ~
I
I
i
INFECTIOUS DISEASES i
'!I
'-'
7
ESSENTIAL QUESTIONS FO"\ t1RCPCH
·-v/
A I,isteria monocytogenes infection
B Group A streptococcal infection
. ""-';: C Group B streptococcal CGBS) infection
D Disseminated herpes simplex virus infection
E Escherichia coli infection
Clf F Congenital heart disease
:s G
H
Methylmalonic aciduria
. Congenital infection
.
tr
\
HIV infection
For each of the following case scenarios select the most likely diagnosis from
the list above. Each option may be used once, more than once, or not at all.
0 I. A baby boy presents on day 1 of life with tachypnoea, poor feeding and·
delayed capillary refill time of 3 seconds:· He had been born by normal·
vaginal delivery (NVD) at 37 weeks, after prolonged rupture _of membranes
(PROM) for 4 days. Further examination reveals a bulging fontanelle. Initial
investigations are as foliows (normal ranges in brackets): haemoglobin
14 gtdL (1 0.5-14 gldL); white blood cells (\1\'BC} 18 x 109/L (6-1 5 x
109/L); urea 8 mmoi/L (2.5-6.6 mmoi/L); creatinine 68 ll-moi!L (20-80
J.LrrlOI/L); pH 7.29 (7.32-'7.37); bicarbonate (HCO;l 20 mmoi!L; carbon
dioxide (C02) 4.0 kPa; base excess (BE) -6 mmoi/L; alanine
aminotransferase (ALT) 33 lUlL (I D-40 lUlL); prothrombin time (PT) .
normal; APPT (activated partial Pf) normal; (-reactive protein (CRP) 22
(< 5 mgldL); Oz saturations in air 97%.
0 2. A baby girl presents at day 8 of life with tachypnoea, poor feeding and
· delayed capillary refill time of 4 seconds. She had been born by NVD at
3 7 weeks after prolonged rupture of membranes for 3 days. Further
examination revealed an enlarged liver, easy bruising and a vesicular
. rash. Initial investigations are as follows: haemoglobin 14 .Wc!b ~-·· . .
(I 0.5-14 g!dL); WBC 8 x I 09/L (~iS xTb9Jil; ureii8-mmol!L (2.5-6.6
nimol!L}; creatinine 68!l-moi!L (20-80 J.LmOIJL); pH 7.28 (7.32-7.37);
HCOj 19 mmol/L; CO, ~-0 kPa; BE -9 mmoiJL: ALT 787IU!L (10-40
lUlL); PT grossly abnormal; APPT grossly abnormal; CRP 4 ( < 5
mgldL); 0 2 saturations in air 97%.
0 3. A baby boy pres'!nts at day 3 of life with tachypnoea, poor feeding,
vomiting and delaY.ed capillary refill time of 4 seconds. He had been
born by NVD at 37 weeks with no PROM. Further examination revealed
an enlarged liver and lethargy. Initial investigations are as follows:
haemoglobin 14 g!dL (I 0.5-14 g!dL); white blood cells 8 x 109fL (6-15
x 109/L); urea 8 mmoi!L (2.5-6.6 mmol/L); creatinine 68f!.mOI/L
(2(}-80 fl-mOI/L); pH 7.25 (7 .32-? .3 7i: HCO; 16 mmoi!L; COl 3.5 kPa; BE
·-14 mmoi/L; ALT 81U/L (10-40 IU/LJ; PT normal; APPT normal; CRP 4
(< 5 mgldL); 0 2 saturations in air 979·&.
8
INFECTIOUS DISEASES
9
ESSENTIAL QUESTIONS FOR MRCPCH
·-·
l)'phoid
D Malaria
E 1\.lberculosis
F Diphtheria
G Tetanus
H Ebola
I · · Dengue fever
J · Human immunodeficiency virus (Hrv)
For each of the following case scenarios select the most likely diagnosis from
the lis_t above. 'Each option may be used once, more than once, or not, at all.
0 l. A 4-year-old girl, returned from holiday in India, presents with a 4-week
history of swinging fevers. diarrhoea and general malaise, and a rash.
Temperature 38°C; pulse 80 beats/min; respiratory rate 15 per min; blood
pressure (BP) I 00/60 mmHg; ; haemoglobin I _o g!dL (normal range
10.5-14 gtdL);white blood cells (WBCJ6 x .109/L (6-15 x J09JL); platelets
80 x 109/L; neutrophils 2.0 x I 09/L; lymphocytes 2.5 x 109/L; eosinophils
0.3 x I 09/L (15()-,.400); bilirubin 20 f..LmOVL (I. 7-26f..LmOI/L); aspartate
aminotransferase (AST) 80 lUlL (IQ-,-45IU}L); serum sodium 129 mmo]JL
(135-145 mmoVL); serum potassium 3.7mmo]JL (3.5-5.6 mmol!Ll:
serum urea 6.5 mmoVL (2.5-6.6 mmoVL).
0 2. A 3-year-old girl, recently arrived from Uganda, presents with a 2-
week history of intermittent pyrexia and a 5-week history of persistent
diarrhoea, oral thrush and weight loss. Temperature 37.8°C; pulse 70
beats/min; respiratory rate 13 breaths per min; BP 90/56 mmHg;
haemoglobin9.2g/dL(l0.5-14g!dL);WBC 12 X 109/L(6-15 X 10~/L);
platelets 100 x 109/L (150-450 x 109/L); neutrophils 9.5 x 109/L;
lymphoCytes 2.5 x 109/L; eosinophils 0.3 x 10 9/L; bilirubin 15 fl.mo]JL
(i. 7.:26fl.mol!L); AST 40 lUlL (I 0-45 IU/L); serum sodium 136 mmol!L
(135-145 mmol!L); serum potassium 3.9 mmoi/L (3.5-5.6mmoi!L);
serum urea 4.5 mmol/L (2.5-6.6 mmoi!L). .
0 3. A 5-year-old who returned from Ghana last week presents with a 2-
week history of spiking fevers, vomiting and a cough. Temperature
39° C; pulse 120 beats/min; respiratory rate 20 per min; BP 105/58
mmHg; haemoglobin 7.6 g!dL (l 0.5-l~ g/dL): WBC 10 x 109/L (6-15 x
109/L); platelets 80 x 109/L (15()-,.450 x 10~/L ); neutrophils 4.0.0 x
109/L; lymphocytes 4.5 x I 09/L; eosinophils 0.2 x I 09/L; bilirubin 45
fl.mO]JL (I. 7-26fl.mOl/L ); AST 39 JU/L. (I Q-,-45 lUlL); serum sodium 131
mmoi!L.(I35-145 mmoi!LJ; serum potassium 4.2 mmol!L (3.5-5.6
mmol!L); serum urea 7.5 mmoi!L (2.5-6.6 mmol/L).
10
--~:L._
> • . . I.
··"''· . •'
1. Bronchiolitis in infants
Answers: A CD E
Bronchiolitis is a common cause of lower respiratory infections in i)1fancy. It
cause;5 significant symptoms including cough, wheeze, shortness of breath,
and difficulty feeding. About 2%of all infants require hospital admission. The
majoritY of cases (upio 75%) are cauSed by respiratory syncytial <R5v>. Virus
althoug.).adenovirus, rhin?virus and myxovirus can also s:ause it. AdenoVirus
can cause a particularlysevere illress.' Primary Epstein.:..Barr virus (EBV)
infection does not 'cause a lower respiratory infection but 'can present as fever.
sore throat and cervical lymphadenopathy.," _,· . _. , i, •c , -,
3. Features of measles
Answers: BE" '
M~~sl~s·characteristically present~' With a prodromal illness: which includes
·-- _.. _coT:Yzai symptoms cn:inny n<:>se),-norFpurulent conjunctiVItis and-cough . -- --'
followed by a rash. Koplik spots appear, no~ (gre?' ~~i,te les!qns on_ the ~uFca!
mucosa). The typical rash is maculopapular startmg on the face ~md working
down the trunk. The lesions tend to coalesce and fade to a dusky colour. ·'
·Children often have a sore mouth, however diarrhoea is not common.
Convulsions are not a charaCteristic feature of measles and if they occur they
are invariably triggered by the fever, or ~eflect encephalitis.' ' ,· "• • · I• •
t ..~. l ~ ·.••
II
-·
·l.·
[~-
~
~ ESSENTIAL QUESTIONS FQR MRCPCH
l ------------------------------------
-5. Skin lesions caused by vira1·infections
Answers: A B E
Herpes simplex virus cause whitloW: Human papill6rl)a virus causes verrucae,
and molluscum is caused by a virus from the pox family. Impetigo is a
bacterial infection, often Staphylococcus or Streptococcus, and tinea is a
fungal infection. I , . '.-;·
•· • IJ
Answers:
t
cD
. , .. . . ·,{ . : __ . .•
"' "- .. •·
The characteristic rash of chickenpox is a crop of macules which quickly
become p_apular. vesicular. and finally pustular before forming a crust The
rash evoh'es in a series of crops and lesions of different ages can be seen. The
rashis'i:rlainly on ~he trunk but can be seen on the face and limbs: The spots
do not coalesce and once they are vesicles they becpme very itchy. ·
~
12
'I
INFECTIOUS DISEASES
10. Croup
Answers: A D .
Mild croup (barking cough VJith no stridor at all) does not req~ire specific
treatment. Severe croup (stridor at rest- as opposed to on crying or when
distressed) should be treated with oral dexamethasone; if the child refuses or
cannot take oral medication this can be given as nebulised budesonide. For
severe croup, adrenaline is given in nebulised form rather than
intramuscularly. Croup is a viral infection and does not require antibiotics.
Moderate croup (stridor on exertion) should be treated with oral or nebulised
steroids.
13
ESSENTIAL QUESTI<;JNS FOR MRCPCH
o Anthrax · ..
• Cholera
• Diphtheria
• Dysentery
• Food poisoning
• Leptospirosis
• Malaria . '
• Measles . . . ..
• Meningitis (meningococcal; pneumococcal; Haemophi/us injluenzae; viral;
other specified and UJ1Specified) · ·
• Mepingococcal septicae!Jlia
• Mumps···
• Ophthalmia neonatorum
• Paratyphoid fever ••
• Plague I.
. [·
• Rabies
• Relapsing fever
• Rubella
• Scarlet fever .,.
• Smallpox
·,
• Tetanus '•
• lllberculosis
• l)'phoid fever
• l)'phus fever
• Viral haemorrhagic fever ,,
• Viral hepatitis (types A, B, c, and other)
• Whooping cough
• Yellow fever.
14
INFECTIOUS DISEASES
16. Meningitis
Answer: C ..
Hearing impairment occurs in < 5% of cases of meningitis, overall, and is '
most common after pneumococcal infection. Neck stiffness occurs in older .
children only. Neonates present with non-specific signs of infection but may
have fullness of their fontanelle. Studies have shO\'Irn a re,duction· of deafness
. and neurological' morbid it}• after Hib meningitis if steroids were given early in
the disease course (before or with antibiotics). CSF glucose is usually very low
in tuberculous meningiti~. Although Listeria is a cause of neonatal meningitis,
the commonest cause is group B Streptococcus. ·
IS
ESSENTIAL QUESTIONS FOR MRCPC!-1
18. Childhood
,, .. "' exanthemas
- ,;.
Answers: B DE
-
·~'
. .',
The rash of chickenpox characteristically starts on the trunk: The rash oL·
measles does characteristically start behif~d the ears and along the hairline as
a macular rash. lt then t?ecomes maculopapular and ,spreads sequentially t .
• - • - -' j ; ""' - ~
down•the body.-.to the face. the upper arn;ts. t~n!< ~nd.then the legs~ u is the
rash ofparvovirus Bl9 (en1hema infectiosum) that causes the :slapped cheek'
appearance. The rash of r~seola infantum· is caused human herpes by virus
(HHV)-6 and usually appears abruptly when the. feyer s~ops. Cqxsacki~ yir:t:s:
especially type AI6, causes 'hand, foot and mouth' disease.with intra-oral
ulcerative lesions, and vesicular lesions on the hands and feet.· · · ' •
lf' ·· #' tt,,1r -·
.., Anti-retroviral treatment is monitored by looking at the CD4 count and the
HlV vira. load. H!V antibodies may be used in diagnosin_g HIV infection,
however children under J 8 months may still ha\'e maternally acquired HIV ·-
antibodies. High immunoglobu!in levels are a non-specific sign that occur in
HIV infection. Viral load is noUhe same as HIV antigen as the latter only .
detects if antigen'is present or not; viral load looks at the quantitative amount
ofHIVvirus in the blood and ismeasured in copies/mL Less than 50 .
copieS/mL is also known as ·undetectable' and is a sign thai the HIV.virus is,
being successfully suppressed by medication (not eradicated, as anti- , !:
retroviral therapy is only able to suppress viral replication).
. .
23. A: DMSA scan
DMSA scan is'the'best test for looking at renal scatring. Intravenous. t<
pyelograms (IVPs) are used to look for stones. Renal ultrasound. is used to .
look at the kidney structure, for example, to identify horseshoe or duplc:x ·
kidneys. Micturating cystourethrogram (MCUG) looks for vesicoureteric , .
reflux. A MAG _3 renogram looks at renal perfu~io11, not scarring.
17
ESSENTIAL QUE~TIONS FOR MRCPCH
', - ·- -' ,, ' )f!' -~-' .... - __ .._ ~~ ~
;...
•
~JJ ~=:~to have r~ci:ived ,{.;thin thel~t ;mont~s'oral prednisolo~ at
more than 1 inglkg/day for 1 month or 2 mgtkgtday for more'thi:m 1 week·~
\.V • Those who are on steroids in combination with cytotoxic drugs.
. .
Note that this means that a child receiving the .standard 3iday C()UfSe of
steroids for an acute exacerbation of asthma would riot requireVZIG after •
exposure to chickenpox .. , . 1 . . ··' ' ' . ' ..
18
INFECTIOUS DISEASES
2. F- Bacterial osteomyelitis
High CRP, white blood cells an.d ESR With characteristic X-ray changes make
this diagnosis the most likely answer- the most common culprit, in an
immunologically normal host. is Staphylococcus au reus. Osteomyelitis is two
to fou.r times more common in boys. 1\.lberculosis (TB) is the second choice,
which can cause osteomyelitis. It is always important to think of malignancy
in patients 'A'ith bony pain, either localized osteosarcoma or acute
lymphocytic leukaemia (ALL). Evidence of these would usually be seen \Vith
cytopenias on the FBC (full blood count). The third possibility is JIA.
3. C- juvenile idiopathic arthritis OIA) ··
It is always important to remember non-infectious diseases that present to
the infectious diseases department with prolonged fever. This is a classical
case of systemic onset juvenile arthritis, with a ·salmon pink' intermittent
rash. Splenomegaly can also occur in other diseases such as ALL (but no
cytopenia). brucellosis (does not give this rash; no night sweats) and infective
endocarditis (no murmur in this case). Cases of Brucella can be found in
Spain. but of cour~ a tr.avel history is often just incidentaL The second
possibility is brucellosis, and the third is infective endocarditis.
.,
20
' '
.. '
. •'·•
' I·.
0 A isovaleric acidaemia .1
0 B very long chain acyl-co-A dehydrogenase deficiency (VLCAD)
0 C venepuncture with tourniquet · · · ' 1' ••
1
';
0 D Smith-Lemli-Opitz syndrome ·
0 E hypovolaemic shock
0 D non-ketotic hyperglycina~mia •
0 E cystinosis ·
21
j '·
r-
r .
i:'
ESSENTIAL QUESTIONS FOR MRCPCH
0 E rickets
.I
8. Phenylketonuria (PKU) ;·~ '
O A breastfeeding is contraindicated in the ne"Ytiorn infant with
phenylketonuria
0 B the diet is phenylanine-free
0 C the concentration of brain phenylalanine direcUy correlates with that in
the plasma
0 D 'diet' drinks (With artificial sweeteners) impro\·e phenylalanine control
0 E phenylala~ine is teratogenic '
' '
I 0. Th~ following are true of mitochondrial DNA
0 A replication is inhibited by zidovudine . .
0 B rearrangements have a low risk of recurrence in siblings
O C encodes subunits for all the respiratory chain complexes
0 D has no histone coat
0 E is inherited from the mother
' 22
METABOLIC MEDICINE
23
ESSENTIAL QUES)IONS FOR MRCPCH
0 A
What is the NEXT treatment
Hydrocortisone
.
of choice? .·' ·
0 ·B Ottreotide ·
0 c Glucagon
0 D Sub-total pancreatectomy
0 E Diazoxide
0 E Blood culture
' .
24
METABOLIC MEDICINE
,.
22. A 12-month-old girl was referred for investigation for ,
developmental regression having lost the ability to sit .
unsupported . .EXaminai:im\ revealed acherry red spot. iher~
,.
were no audible murmurs and the abdomen was soft with no
palpable organomegaly. What is the MOST likely diag'i\osis?
0 .A Fabry disease
0 B Sand hoff disease
0 C Niemann-Pkk type C
·0 D Gaucher's disease
0 E Tay-Sachs disease
lS
:(;{.";~{·::~
ESSENTIAL QUESTIONS FOR MRCPOi
' .
«n. D Plasma amino acids
E Organic acids
Cl) F Acylcarn(tines :. ·--:-
G Urate
:::J H Lactate . ' .
cr
)
I Ammonia
J .7-Dehy<:Irocholesterol.
For each of the following inborn errors, select the most appropriate initial
investigation from the list above. Each option'may be used once, more than ·
once, or not at all. · "' · · · ' '
..... ~,
0 I. Zellweger syndrome. .
1
0 2. Maple syrup urine disease (MSUD) .. ·
0 3. Lesch-Nyhan syndrome.
• ~ ! . I ' -t '.)
B Corneal clouding
C Stellate iris
E Pigmentary retinopathy
F Cherry red spot
G Cataract
H Arcus juvenilis ...
I Kayser-Fleischer ring
J Glaucoma
For each of the following inborn errors, select from t~e Jist above the eye signs
common{y associatt;d with each condition.. Each option may be used once, .
more than Once, Or nOt at Olf. . " · ' •'' • '· I , '
. ~ \ ~ j. f ;. .
0 1. Long chain hydroxy.acyl-CoA qehydr~gen,c(~ c!<:!ficiency. , ..•
0 2. Galactos9eq1ia. ,• , ~, , • '._1t · ~ • ·l
0 '3. Morquio syndrome. _ •,
26
METABOLIC MEDICINE
2. Hyperlactataemia
Answers: A B C E ..
Elevated lactate is a feature of a number of inborn errors including organic
acidaemias (A). fat oxidation defects (B), respiratory chain disorders. pyruvate
disorders. disorders of gluconeogenesis, hereditary fructose intolerance,
biotinidase deficiency. and glycogen storage disorders (1. Ill, Vl and IX). In
practice. hypoperfusion and hypoxia need to be excluded because secondary
caus~s of lactic addaemia are more common. Spurious elevations of lactate
commonly arise due to a squeezed blood sample. An arterial sample should be
taken if a free-flowing venous sample' cannot be obtained. Smith-Lemli-opitz
syndrome is a disorder of cholesterol synthesis resulting in dysmorphism and
mental retardation.
· . · Answers: c E '· •· .·
·Maple :Syfup urine disease (MSUD) produces a metaboliC acidosis due to the
build~up of a number of organic acids. Cystinosis results in damage to the
proximal tubule due to cystine storage resulting in a renal tubular acidosis.
Non-ketotic hyperglycinaemia (NKH) produces a respiratory acidosis as
apnoeas de\•elop. Ammonia is a respiratory stimulant and therefore produces
a respiratory alkalosis. Chloridorrhoea produces a metabolic alkalosis
secondary to chloride loss in the stooL
4~ Hypoglycaemia
Answer: D
Stick tests are used as screens fo.r hypoglycaemia. but may be unreliable at-low
glucose concentrations. Diagnosis requires formal laboratory confirmation.
Hypoglycaemia is defined as a laboratory glucose of :S2.6 mmoi/L Fat oxidation
28
.'
METABOLICMEDICINE.
29
r
,.
ESSENTtf..l.. QUESTIONS FOR MRCPCH
7. Cyst!nuria
t
r AnS11'er: C
I Cystinuria is a transport defect resulting in the excessive loss of COAL
(cystine, ornithine, arginine and lysine) in the urine. The only clinical
consequence is renal stone formation. All the listed features are seen in
cystinosis. This is a lysosomal defect with excess cystine being stored, \\ith
adverse effects on kidneys, liver, thyroid, pancreas and brain.
8. Phenylketonuria
Answer: E
PKU results from a block in phenylalanine metabolism resulting in elevated
phenylalanine levels and neurological impairment. It is managed with a
phenylalanine-restricted diet. Phenylalanine is an essential amino acid and
therefore cannot be totally removed from the diet. In the neonate this can be
given as formula or breast milk. The level ofphenylalal!ine in the brain cannot
be predicted from. the plasma concentration which explains why some
patients ha\·e good outcomes despite 'poor control and Vice versa. A reduction
in transport across,the blood brain barrier is protective. 'Diet' 'drinks are · ·
contraindicated because aspartame contains phenylalanine, thus the full
sugar varieties are preferred. Phenylalanine is teratogenic, and therefore even
though the chance of a PKU mother having a PKU affected child is only 1 in
100: the fetus can still be damaged by maternal PKU. The condition must be
managed very carefully in pregnancy, by rriC?re frequent blood monitoring .and
stricter control of phenylalanine concentrations. · ·
9. Hyperammonaemia
. .
AnSiver: All true
Hyperammonaemia is the hallmark of primary urea cycle defects such as
argininosuccinic aciduria. The liver is the home of the urea cycle, and
therefore liver failure can result in severehyperammonaemia. Secondary
inhibition of-the urea cycle occursin the-organic acida~ITiias:Transierit ·-·--
hyperammonaemia of the newborn is thought to occur when there is delayed
closure of the ductus venosus, whereby blood is shunted away from the liver,
thus bypassing the urea cycle. Urinary tract infections with urea-splitting
organisms (such as proteus) result in the release of ammonia from urea. and
are a cause ofhyperammonaemia.
" lO
METABOLIC MEDICINE
low risk ofrecum~nce. The mutation rate in mtDNA is higher than nuclear
DNA (nONA), because there is neither a protective histone coat nor the same
repair mechanisms enjoyed by DNA within the nucleus. Mitochondria are the
. product of two g'enomes, mitochondrial and nuclear. mtDNA does not encode
for all the subunits of the respiratory chain complexes. Complex II is entirely
nONA encoded. mtDNA replication is inhibited by nucleoside analogues such
as zidovudine. There is some concern about its use in treating pregnant
mothers to block the vertical transmission of human immunodeficiency virus
(HIV).
ll
ESSENTIAL QUESTIONS ;;OR MRCPCH
Peroxisomes are present in all cells except mature red cells. They have many
synthetic and catabolic functions. They are the site of biosynthesis of
plasmalogens, bile acids. and cholesteroL They are the site of[3-oxidation of
very long chain and branched chain fatty acids. Other oxidative processes
include those of phytanate (Vitamin A), glutaric acid. and pipecolic acid. They
are also the site for glyoxylate metabolism. Peroxisomal disorders may result
from a complete absence of function (Zellweger syndrome), from Joss of a few
processes, or from blockage of a single pathway, such as phytanate in Refsum
disease, and VLCFA oxidation in adrenoleukodystrophy. The urea cycle occurs
in the C}1oplasm and mitochondrion. and glycosylation of glycoproteins ·
occurs in the endoplasmic reticulum and Golgi. Disorders of this pathway
lead to the congenital disorders of glycosylation (CDG). ·
METABOLIC.MEDICINE
1 7. E: Diazoxide
Hypoketotic hypoglycaemia has a limited'differential diagnosis, and the .
failure of rapid reversal following a bolus and the requirement of a continued
dextrose infusion is suggestive of hyperinsulinism. The coexistence of
hyperammonaemia suggests HIHA (hyperinsulinism hyperammonaemia) •.
syndrome. This is due to upregulation of glutamate dehydrogenase. Diagno.sis
may b~ delayed by several months if the child has access to regular feeds, for.
example by continued breast or bottle feeding every few hours throughout ihe
night and day. HIHA is exquisitely responsive to diazoxide to control the
hyperinsulinism and it is the treatment of choice. The hyperarumonaemia is'
controlled with mild-to-moderate dietary protein restriction.
18. A: Ammonia . ,. :. ..
The finding of·a respiratory alkalosis in a sick neonate is a'n uni.t5ual finding and
is not consistent with acidosis or a primary lung pathology causing the
tachypnoea. Ammonia is a respiratory stimulant which acts directly on the
brainstem and shouid be me.asu:red in any child with encephalopathy and a · '·
respiratory alkalosis. . . . I
21. B: Acylcamitines
MCAD is suggested by the hypo ketotic hypoglycaemia and dicarboxylic aciduria.
Ketone production is severely limited as ketones are the ultimate product of the
blocked fat .oxidation pathway. Dicarboxylic acids are formed when fatty adds
undergo 0-oxidation in the microsomes. Intercurrent illness, especially
involving \'Omiting and diarrhoea, is a common precipitant of decompensation.
Diagnosis is made on plasma acylcarnitine analysis by an elevated
octanoylcarnitine (C8) level. Diagnosis would then be confirmed on genotyping
. for the common G985 mutation. Fibroblast studies are used to confirm long-
chain fat oxidation defects and are not usually necessary in MCAD diagnosis.
34·
METABOLIC MEDICINE
3. B- Corneal douding
Corneal. clouding is associated with all the mucopolysaccharidoses, with the:
exception of Hunter syndrome (MPS type II). The degree of clouding may be·
very s_u~,tle and only r~vealedon-slit-lainp'examination.t.Morquio synd!ome
(MPS t)tpe IV) is typified by severe skelet~ll involvement (dysostosis multiplex),
with sparing of the central nervous system. ·
35
--
"'
I -·
37
.-.'
•. j
·-
B is more common on the left side , ,
0 C is associated with karyotype abnormalities in approximately 60% of •
cases
!aJ
1 ...
0 D is associated with malrotation of the gut
{/) 0 E causes biiateral pulmonary hypoplasia
OJ 6. Neonatal iisterios!s ,
:s 0 A is caused by Gram-negative cocci
:o- 0- 8-is usually a nosocomial infection'
0
.. ~
C is associated with maternal contact with cats
'·
38
NEONATOLOGY
-,·--·---·
''t
.. ·.
' _,
t·:;;
10. The following are risk factors for periventricular leucomalacla
0
i.C"
0
A
B
maternal opiate use
maternal cocaine use !·c
0
0
C
D
chorioamnionitis
antepartum haemorrhage
:. ·m
0 E hyperbilirubinaemia_ (I)
-·
·~
11. Fetal haemoglobin
0 A consists of two a and t\vo -y chains
0 B is approximately 80% of the total haemoglobin at term
0 C causes the oxyhaemoglobin dissociation curve to be shifted to the right
0 D is undetectable in adults
0 E is unaffected by sickle cell disease
39
ESSENTIAL QUESTIONS FOR MRCPCH
.en
I
16. The following are recognised causes of hypocalcaemia in the
newborn
IC 0 A maternal hypoparathyroidism
io 0
·-
B maternal diabetes ,.
0 C Di George syndrome
0 D hypermagnesaemia
0 E hypophosphataemia
..
t..,. • '
'.
40
NEONATOLOGY
0
the baby at this time is which of the following?
A Discharge home
···.·o
0 B Ob$erve in hospital for 48 hours :::1
0 C Await result of vaginal swab and'treat the baby according. to this fl)
0 D Perform an infection screen and treat with intravenous antibiotics if
results suggestive of sepsis
0 E Perform an infection screen and treat with intravenous antibiotics for
at least 48 hours pending results
41
>
~·\
0
<mother's blood group 0 Rhesus negative. Which of the
following is the MOST likely diagnosis? ' .
A Rhesus haemolytic disease
· ·
0 B ABO incompatibility
CIJ 0
0
c Hereditary spherocytosis
::s 0
D Physiological jaundice
E Breast milk-associated jaundice
42
NEONATOLOGY
'.
43
ESSENTIAL QUESTIONS FOR MRCPCH
44
NEONATOLOGY
45
I. Seizures ,in Ute first week of life {'
· Answers: DE ,, • •· ••
Congehitat inyoionic dystroptiy typically presents with hypotonia and
sometimes with respiratory failure. Trisomy 21 presentswith typical
dysmorphic features and hypotonia. Profound unconjug~ted .
hyperbilirubinaemia may cause kernicterus, of which seizures may be~
feature, whereas conj':,lgated hjperbilirubinaemia is no(a'tat.ise of seizures.
Non-ketotic hyperglycinaemia may present with increased fetal movements,
which are actually in-utero seizures and neonatal encephalopathy presenting
as hypotonia and seizures from birth. Maple syrup urine disease· (MSUD).'in
its most severe form, presents as collapse v.'ith encephalopathy, "including
seizures. usually from the third day of life. .. :f: '
2. Pulmonary hypoplasia .,
Answers: A c E , .i' r~ , . l ,
46
NEONATOLOGY
3. Surfactant deficiency
Answers: A c DE
The risk of surfactant deficiency is increased by prematurity. with an incidence
of approximately 9096 at 26 weeks' gestation, 55% at 32 weeks, 396 at 38 weeks
and < 196 at 40 weeks. The incidence and severity is reduced by maternal
antenatal steroids (dexamethasone and betamethasone), maternal opiates. in
females and small for gestational age babies. The incidence and severity is
increased in males. sepsis, babies of mothers with diabetes, those delivered by
elective Caesarian section and \\1th a strong family history of surfactant
deficiency. Meconium aspiration syndrome and pulmonary haemorrhage has
been shown to inactivate the action of endogenous surfactant and exogenous
surfactant therapy has been shown to improve outcome in both conditions.
4. Reproductive function
Ans11;ers: 8 C E
The SR'Y gene on theY chromosome influences the primitive gonads to form
testes. The testes ·secrete' 11.1ullerian inhibition factor (MIF) which results in
regression of the uterus and fallopian tubes. Male pseudohermaphrodites have
male karyotype (XY) but are under-virilised, most commonly due to androgen
insensitivity. The most common cause of female pseudohermaphroditism (XX
karyotype) is congenital adrenal hyperplasia due to 21-hydroxylase deficiency,
which leads to increased levels of J7a-hydrox:yprogesterone. ·
6. Neonatal listeriosis
Answer: Allfalse
Listeriosis is caused by the Gram-positive coccobacillus Listeria
monocytogenes. Neonatal infection is usually acquired in utero after the mother
has become infected from food. often from un-pasteurised dairy products or
pate. Maternal contact \'-1th iarm animals is thought to be a risk factor also.
Listeria !soften resistant to cephalosporins and amoxicillin is the antibiotic
treatment of choice. Outcome after neonatal listeriosis is variable with a
significant mortality (approximately I 096) and risk of long-term neuro-disability.
47
-·.,.I ESSENTIAL 9UESTIONS FOR MRCPCH
·~
7. Polyhydramnios
Answers: B DE
Polyhydramnios may.be caused by maternal diabetes, karyotype
abnormalities, tWin-to-tvvin transfusion syndrome (polyhydramnios
oligohydramnios syndrome), neuromuscular disorders (congenital myotonic
dystrophy. congenital myopathies. spinal muscular atrophy and Mobius ·
syndrome), oesophageal atresia (and other, high intestinal atresias) and
.congenital diaphragmatic hernia. Some caseS;' particularly mild
polyhydramnios, may be unexplained.
48
NEONATOLOGY
49
ESSENTIAL QUESTIONS FOR MRCPCH
growth restriction is usually due '.o placental insuffidency and is much more
common. Maternal conditions such as hypertension. pre-eclampsia, lupus.
antiphospholipid syndrome/maternal renal disease and opiate use are
associated With symmetrical intrauterine growth restriction: The 'donor· tv,rin
in twin-to-tvvin transfusion syndrome is also at risk. Maternal smoking leads
to a mean 10% reduction in birth weight. Babies of mothers living at high
altitude also follow a similar pattern of asymmetrically reduced fetal gro\Vth.
so
NEONATOLOGY
Sl
.-,
.;ii
·!
i ESSENTI;?-.L QUESTIONS :=OR i"1KCPCH
•I
'!
The most likely diagnosis is umbilical granuloma. This is much more common
than other possibilities. such as patent urachus and patent
omphalomesenteric duct which may present with discharge of urine or
meconium. Umbilical granulomas are usually red and may discharge serous
fluid or pus. Treatment with antibiotics is only necessary if omphalitis is a
possibility, with peri-umbilical erythema in an unwell baby. Normal skin !lora,
such as Staphylococcus epidermidis, do not require antibiotic treatment.
Cauterisation with silver nitrate may be considert>d but most umbilical
granulomata are self-resolving within a few weeks.
·'
21. D: Bilateral multicystic dysplastickidneys
'·
The pathophysiology in this case is severefetal renal dysfunction, from as
early as the second trimester, leading to anuria and subsequent
anhydramnios. resulting in severe pulmonary hypoplasia. All of thelisted
diagnoses may do this. Autos~mal recessive (infantile) polycystic kidney
disease usually leads to large echo-bright kidneys on antenatal ultrasound
scan, rather than macrocysts, and congenital hepatic fibrosis may be found. _
Autosomal dominant (adult) "polycystic kidney disease usually presents later
in life but may rarely-be a cause of microcystic changes within the feti:ll
kidneys. Posterior urethrai valves are associated with bladdt;rand re,_nal tract
dilatation. Meckel-Gruber syndrome is another cause of fetal renalcysts, but
other abnormalities including encephalocoele, polydactyly, cardiac disease
and liver disease are also found on antenG~tal ultrasound scan.
52 .
_ _I
NEONATOLOGY
53
Esc::c:NTIAL QUESTIONS FOR MRCPCH
high incidence of refractive errors and squint. ROP stages 4 and 5 involve subJ
total
.
and total
.
retinal .detachment, usually with. poor Visual prognosis. ·
54
NEONATOLOGY
55
'·'
-~.r
I
...
·.·
.. ,. .':
~
,._
'.
r·
'. .. ll"
,,
., ... , ~" ..
,.,
Jim Hart and Chris Reid
. ~l·~~~~~.~~:.::~-.-~'~1""7:'.\ ~~t~~::n-.::~~~$~1-1~~-~·~.r~;:~~··~·.
!
Multiple Choice Questions
1. Complications of nephrotic syndrome include
0 ··A hyperlipjd~emia
0 B malnutrition
0 C primary pne.umococcal perito[litis
0 o prolonged biet;ding ·
0 ,E pulmonary embolism · -
57
ESSENTIAL QUESTIONS ;:"QR MRCPCH.
.9. The followiri.g suggest pre-renal, rather than intrinsic,. renal failure.
0 A urea of> 15mmoVL ·.,~ ;'
0 B urinarysodium:<·JOmmoi/L
0 ·c· urine output less than 1 inl/k.gthour ~. '{ i
0 · ·D hypotension
0 · ·E' urinary osmolality of> 500 mosmoVL . •
58
NEPHROLOGY
. . ; ~ . ,. I
1o. The following are associated With renal cysts '
0 A nephronophthisis · · · ·· ·· ,. · '
0 B chronic renal failure
0 c tuberous sclerosis'
0 o asphyxiating thoracic dystrophy·
0 E renal dysplasia· ' · ·
("" #"
·'
r'~! _ •·. ', !1 . ~ ;j-'7·;'\ -,.,.'"J 1~. -·. :""-' ;, .. "- "". '-~- ).. ·· ·
l1. The following is true of autosomal recessive polycystic kidney.
• ·~.;.
1
disease . ., •· ,. ,. ..J
0. 'A the gene for autosom<ll rec~ssive polycystic k.i<fney'disease is:found on
chromosome 6 .... -- ., ( ·- ~~
·..., · 1. '
., '
· '
._ -
.
- . ~ - '
.
13. The following is true of renal homeostasis
o' .·P.: in c;~r, 'synd~ome re~i~iMels J;e·~igh ·· · ~J·f~' "''J- :m · :: ·
0 B in Conn syndrome excess aldosterone leads to hyperkalaerriia
0 --c renin increases blood pressure by converting angiotensin Ito .:,
angiotensin II ~·. ~ • ··.: · ' · ; J •• ..~ ·"
0 0 patients with renal artery stenosis typically h·ave a hypokalaerriic
alkalosis . ·' .,. .... t · ·;
0 E typically patients \Vith Addison's disease nave hyperkalaemia and
hyponatraemia
59
ESSENTIAL QUESTIONS FOR MRCPCH
· 16. The following are indications for dialysis in acute renal failure
0 A creatinine of> 700 Jl.moVL . • ···. · ·. ' · .
0 B increasing hyperkalaemia not responsive to conservative treatment
0 c hyperammonaemia · · ·
0 D urine outputless than ~.SmVkg.thour ' ·' ··
0 E ·metabolic acidosis not controllable with sodium bicarbonate
60
' ' NEPHROLOGY
0 c is associate with'hyponatraemia .
0 '• p :~~~~estpe~ted,~fiit~fi!IY.pj ~yid r~str!eticirl'"'>'.
0 E 1s a cause of polyh)'dramntos ·
· •· t ..,...~-~#(·11 '~'-.n "*·
''
. t •
'-t t ...
J ~-. ..,
' .
'1
. ' ' ..
I' \.
·. .. : . n ..c..
61
ESSENTIAL QUESTIONS FOR MRCPCH
63..
ESSENTIAL QUESTIONS FOR MRCPCH
·-..,
{/}
90 beats/min. Further examination is otherwise unremarkable.
He is mildly dehydrated. Blood tests show: pH 7.47; pC02 5.3
kPa; p02 10 kPa; bicarbonate 30 mmol/L (normal range 20..28);
urinary sodium 3 mmol/L; urinary chloride 4 mmol/L; serum'
sodium 135 mmol/L; potassium 2.7 mmoiJL; Urea 3.2 mmol/L;
GJ creatinine 40 J.LlllOl/L; full blood count: normal; liver function
::s tests: normal; plasma renin: raised. What is the MOST likely
underlying·diagnosis? ·
tr 0 A. Bartter syndrome
0 B' Conn syndrome · · •
0 ·c .Cystic fibro'sis • I · .
0 ·D 'Miinchhausen by proxy by·administration of diuretics
0 E Renal artery stenosis ..
.'
i
!
..
~
' - ~ -
' ..
·.
. ' .
64
. "',.
. NEPHROLOGY
. I
65
ESSENTIAL QUESTIONS FOR MRCPCH
66
_l
.-
NEPHROLOGY
1
r
,_,:"
'
-·
F Excessive intravenous administration of salt-poor fluid
G S!MJH ~is,Yndro!l'e oC:.inat:mr<;?rriate secretion. of anti-diu~etif no~~one)
H .Urea cycle defect ., .- .
Viral encephalitis . . • .
For each of the following scenarios choose the mostlikelycause of the child's
condition from the Jist abi:>l'e:J.Each option may be used once, more.thanonce,
or not ai all. ·
0 · '1: A 2;.~9,nth~old~boy presents V:rith tachypnoea and i>oor feeding. He .
.was born in' good conaition at 36 weeks' gestation by spontaneous
· vagih'i:il delivery. on admission he weighed 5.0 kg. His respiratory rate
was,80 breaths per min and he had marked intercostal reeession. He
f'"• ,.,t ~"· r -'"" ....·"" -.,. Jil t# t f ; l
was clinicaUy,diagrtosed·as haVing bronchiolitis and started Of!
1
' maintenarke' fluids of O.l8%soditim chloride and 4% deXt'rose at 31
ml/hour; 12 hours later he developed profound apnoeas requiring .. .,.,,
intubation and ventilation,pp,i_ntensivecare. At this pointhe~i§.we}l
perfused and he is not oedema tous. Investigations on admission to.
intensive care shO\\'ed: serum sodium 115 mmol/L; serum potassium
4.2 mmoi/L; serum urea 2 mmol/L; serum creatinine 41 J.Lmol/L; serum
pH 7.19; serum pC0 2 8 kPa; serum p02 8 kPa; serum bicarbonate 20
mmo1!L; serum glucose 4 mmol/L; urine osmolality 400 mosmol; urine
sodium 50 mmol/L; urine potassium 40 mmol/L.
0 2. A 2-week-old Caucasian boy presents with a 3-day history of poor
feeding. He was born at term weighing 4.0 kg. On admission he
weighs 3.6 kg, has dry mucous membranes and cool peripheries;
. temperature 3 7.5 cc; respiratory rate 60 breaths/min and pulse 170
beatstmlri. the-rest orthe examination is unremarkable. Initial ·
investigations show: serum sodium 125 mmol/L; serum potassium 6. 9
mmol!L; serum urea 6 mmoi/L; serum creatinine 60 ,.~.moi!L; serum
bicarbonate JB mmol!L; serum glucose 2. 7 mmol/L; serum ·
haemoglobin 170 giL; serum white cell count I B x I 09/L; serum
platelets 370 x 10"/L; serum C reactive protein (CRP) 5 mg!L;
abdominal ultrasound: normal; urine sodium 50 mmoi!L; urine
microscopy: no white or red cells seen.
0 3. A previously healthy 5-year-old girl was admitted to hospital following
a4-day history of profuse vomiting and diarrhoea. There is no past
medical history of note. She is uacking along the 5th centile for height
and the 50th centile for weight. J;ler weight I month prior to admission
was .,6 kg. On admission she is lethargic. her capillary refill time is
67
ESSENTIAL QUESTIONS FOR MRCPCH
6 sec, her temperature 38 oc and pulse 160 beats/min, and she weighs
15 kg (9th centile). Initial tests show: serum pH 7.31; serumpC02
3.5kPa; serum bicarbonate 18 mmol!L; serum sodium 137 mmol!L;
serum potassium 3.2 mmol/L; serum urea 6 mmol/I..i serum creatinine
80 1-Lmol!L; serum alanine aminotransferase 50 lUlL (normal 28-44);
serum albumin 27 giL (normal 30-45); serum glucose 3.8 rrimoi/L;
urine sodium 4 mmoi!L; \.!Tine potassium I 02 mmoi!L; urine
osmolalitY 900 mosmol. She is given four 150-ml boluses of 0.18%
sodium chloride 4% dextrose over the first 3 hours of resuscitation
until she becomes well perfused. She is then started on maintenance
· fluids plus 10% correction over 24 hours (0.18% sodium chloride 4%
dextrose. with 20 mmoi!L of potassium chloride at 120 ml/hour). After
12 hours she becomes drowsy, so she is re-examined. At this point her
capillary refill is 1 sec, pulse 120 beats/min, .blood pressure, 130/70
mmHg, temperature 3 7 oc. She then has a prolonged generalised
, . seizure. Investigations at the time of the seizure show: serum sodium
115 mmoi!L; serum potassium 4.2 mmoi!L; serum urea 4 mmoi/L;
serum glucose 5 mmoi!L: serum lactate 7 mmoi!L; serum pH 7.2;
serum base excess -7 mmoi!L; serum pC02 6 kPa; urine osmolality I 00
. mosmol; urine sodium 20 mmol!L. ·
,,.
,,
'·.1 ".
1. Complications of nephrotic syndrome.
Answers: A B C E
The mechanism of ele\(ation of cholesterol and low-density lipoprotein (LOL)
is unknown. Chronic proteinuria and steroid therapy can lead to muscle
wasting, which can be masked by oedema. Loss of immunoglobulin in the
urine and ,immunosuppression vvith steroids preqisposes to infection.
particularly pneumococcus. Loss of anti-thrombin JJI and protein c and
proteinS, dehydration with venous·stasis, and increased blood viscosity
cause an increased risk i::>r't11rombos_is. Hypovolaemla q';le to shift of water
from the intravasclllar to the interstitial space is common. Symptoms include
abdominal pa~n and anorexia. J(hypovolaemia is severe acute tubular
necrosis can ensue.
~·
2. Glomeri1l'O~:ii:Itrs '
Answers: BC
Any of the glomerulonephritidies can present with any of the renal
syndromes: nephritic syndrome (hypertension, haematuria, renal
impairment); nephrotic syndrome (oedema, hypoalbuminaemia, proteinuria);
haematuria and/or proteinuria: or any combination of these. The renal
syndromes are not specific for particular conditions and the same conditio;:
can present with different clinical features in different patients.
3. Acute post-strepto.coccal
.
glomerulonephritis
, ..•__ , (
-~-.< -~--
Answers: A C E
Acute post-streptococcal_glomerulonephritis typically presents 10-14 days
after a streptococcal throat or skin infection with nephritic syndrome but can
present with any of the ten a! syndromes described above. Hypertension due to
oliguria and fluid overload is common at presentation. Persistent clinical ·
abnormalities (hypertension, proteinuria and microscopic haematuria) occur
in less than 5% of children followed up long term. C3 is low with a normal C4.
Complement levels should be checked 3 months after the acute illness,
because if C3 is persistently low this may indicate other glomerulonephritidies,
such as systemic lupus el)1hematosus or mesangiocapillary
glomerulonephritis.
II
\
l
69
~Yiij-]
;.·. :·, ~ ESSENTIAL QUESTIONS FOR MRCPCH
~ ,~J.
~·~~ Answet:B
serum JgA is normal. Jt can present with any of the renal syndromes. H is a
(1).,~;
cause of persistent microscopit haematuria without any other renal
~
{It
symptoms. It has a good prognosis with on1y I 0% developing hypertension,
proteinuria and renal impairment during childhood. ACE inhibitors can ·
control hypertension and.reduce proteinuria. Henoch-SchOnlein purpura and
70
NEPHROLOGY
AnS\vers: A B DE · •·
Distal - and very rarely proximal - renai tubular acidosis is cause of a
nephrocalcinosis. Distal renal tubular acidosis can be primary isolated or ·
secondary to obstructive uropathy, amphotericin or cydosporin. Hypokalaerriia
is a feature, rather than h~'Perkalaemia, due to increased urinary losses. . .
AnS\Vers: B D E
In pre-renal failure the kidney tries to conserve water and sodium, hence
urinary sodium is low.(~ 1o mmoVL). During intrinsic renal failure urine
concentrating ability is impaired so urinary osmolality is usually < 300
mosmoVL. Urea increases in renal failure of both types. haemoconcerltration
and during starvation so it is. an unreliable measure of dehydration. Oliguria··
(< 2 ml!kg/h in a baby and < 1 ml/kg/h in an older child) could be due.to .
either reason:-A raised blood pressure, gallop rhythm, raised)ugu1ar venous
pressure/pulse OVPJ and good peripheral perfusion suggest intravascular
overload associated with intrinsic renal failure .. Low blood pressure and poor
capillary refill suggest a pre• renal cause.
71
ESSENTIAL QUESTIONS FOR MRCPCH
12. Diuretics
AnSlNers: B D £
Spironolactone blocks aldosterone-sensitive channels in the collecting ducts,
which reabsorb sodium in exchange for potassium and hydrogen ions. Loop
diuretics block the N-K-2CI transporter in the loop of Henle, increasing
sodium and chloride delivery to the distal convoluted tubule. Sodium is then
re-absorbed in exchange for potassium and hydrogen ions resulting-in a
hypokalaemic metabolic alkalosis, Potassium secretion is proportional to
distal tubular urine flow, distal tubular sodium delivery and aldosterone levd:
Thiazide diuretics block the sodium potassium co- transporter in the early
distal c()n\·oluted tubule. t i
.;, ' • J
·
Answers: DE
In Conn syndrome there is primary hyperaldosteronism. High aldosterone
leads to extracellular fluid expansion, hypertension, hypokalaemia, alkalosis
and renin suppression. Renin is produced by the juxtaglomerular apparatus in
response to reduced renal perfusion (shock, renal artery stenosis and renal ·
scars). Renin converts angiotensinogen into angiotensin 1. Angiotensin-
. converting f!nzyme (ACE) com·erts a,ngiotens!n I to angiotensin 11. Angiotensin
II increases blood pressure by causing vasoconstriction and increasing
aldosterone secretion frorri the adrenaJs. In Addison's there is aldosterone
deficiency. · ·
...
72
NEPHROLOGY
17. Nephrocakinosis
AnS\-vers: A B c D
Nephrocalcinosis is usually part of a metabolic disorder. Nephrocalcinosis is
common in distal renal tubular acidosis but rare in proximal renal tubular
acidosis. Hypercalciuria can cause nephrocalcinosis. Hyperparathyroidism;
vitamin D intoxication. Bartter syndrome, William syndrome, corticosteroids
and frusemide cause hypercalciuria. At follow up, 27% of. infants born at less
than 32 weeks and 62% of infants with chronic lung disease have
73
, ESSENTIAL QUESTIONS FOR MRCPCH
:.
18. Hypertension ··
' {
'
Answers: A B DE
• . • ' ~ t -
The deCision to,treat hyp~rt!nsion is determined by the level.ofblood
pressure and .the presen~e. of end-organ damage. Hyp~rtensive ..
encephalopathy may cause headach~. irrita?i!ity, ~e~res and hyper-reflexia.
Findings in h}1>ertensive retinopathy include cotton-wool spots and flame-
shaped haemorrhages. Ollly rarely will there be retinal or macular oedema ..
Hypertension can cause renal impairment, left ventricular enlargement, and
heart failure. '·
The main causes 'of chronic' r~nal failure in childhood' a;e r<:nal, dysplasia, ,
reflux nephropathy. glomerulonephritis, genetically il'}perited diseases. such as
Alport syndrome or nephronophthisis and systemic diseases, sucf! as systemic
lupus erythematosus (SLE) and Henoch~Schbnleinpurpura (tfSP). Phosphate
retentiol! leads to hJP?.calcaemia a~d ;;~condary h~rp~~a.!~Yr,9~l!!.ciDP. ~'.
·bone r~sorption~ Reduced synthesis or 1,25,hydr~xy-\_:na,min D 3 !=?~.trib~tes to
hypocalcaemia and leads to rickets. Anaemia is secondary to dietary iron
defidency, reduced red blood cell survi~al, an.d erythropoietin deficiency.
Polyuria is usual until glomerular filtration rate falls to end-stage renal failure
levels (less than 10 mVminJL73m2). ·
I '·
20. Posterior urethral valves
Answer: All false
A normal ultrasound on day 1 of life-does not exclude posterior urethral
valves because hydronephrosis may ~ot be apparen!-until urinary flow has
been established. Posterior urethral valVes are always associated with some.
degree of rena] dysplasia and arol,lnd 2~.96 ..yill end up with chronic renal .•
failure or end-stage renal failure. Renal dysplasia is known to occur even if
the valves are operated on in utero. The. classic presentation is of.
oliguria and
pulmonary hypoplasia. They are associated with maternal oligohydramnios.
They are best diagnosed on micturating cysto-urethrogram. To visualise the
valves, films must be taken without the urinary catheter in ~itu; . ., , .. :....
;, ,,
; .
74
--- .l.
NEPHROLOGY
·,.
ESSENTIAL QUESTIONS FC~ MRCPCH
Best of five
23. D: Measure protein/creatinine ratio on early-morning urine for
a week
The scenario suggests Henoch7Sch6nlein purpura (HSP). Around 70% of
· children \\'ith HSP have some degree of renal involvement, usually just
microscopic haeinaturia with or without mild proteinuria. Patients can
develop nephritic syndrome. nephrotic syndrome, hypertension. or chronic
renal failure, sometimes years after the original rash. Persistent nephrotic
range proteinuria (proteiJVcreatinine.ratio > 200m!Vmmol) warrants referral
to a nephrologist for consideration of a biopsy. Arthritis ti?ually settles.
without treatment. Bed rest .does not alter the course of the condition. Serum
creatinine is an insensitive measure of renal involvement; although it is of
concern if raised. Steroids are rarely used in HSP but have been used for
severe abdominal pain and severe glomerulonephritis. .
.'
· 24. C: MAG-3 dynamic renogram
The pati.e~t is m()St likely .t~ have pelvi-ureteric juncti()ry.obst~uction fro~,~e
scena'rio presented. 'The investigation of choice is a lv'lAG-3 (djnamk . .
renogram))o determine ifthere_is ·obstruction tourimi'ry flow. The pat!eni'Is
hypertensive (95th centile for systolic BP is 106+' [age X 2)). Hypertension of
renal origin can occur by a numbed::>f mechanisms. It can occur when there is
obstruction to urinary flow, as in this case. It can also occur because Of ·
reduced renal blood flow. either 'generally (as in renal artery stenosis) or
locally (which occurs in renaJ scarring). Vesicoureteric flux with renal scarring
from previous urinary tract infection is also a possibility, so DMSA and
micturating cysto-urethrogram should be considered, However, vesicoureteric
reflux without urinary tract infection would not cause loin pain. AbdominaJ x-
ray and intravenous urogram would be indicated if nephrolithiasis were .
. thought to.be the cause ofhis pain. Nephrolithiasis is rare in childhood and in
the absence of microscopic haematuria. ·
76
·-~--
NEPHROLOGY
i'
77
ESSENTIAL QUESTIONS i=Ofl: MRCPCH
1. A- Bartter syndrome . , ,, ,.
The metabolic alkalosis and \'eryJow potassium suggests Bartter syndrome. .
This is due .to an inborn: defect. in the N..:.K-2ci t~ansporter'in the thick loop or'
1
Henle. leading to salt and water wasting. The resultant extracellular fluid
(ECF) volume contraction leads to secondary hyperaldosteronism and fvi~ ,
sodium and water reabsorption in the distal convoluted tubule, and reciproc~l
potassium and hydrogen ion excretion into the urine. Crucial to the diagnosis
is the finding ofinappropriately high levels of urinary chloride and sodium. ·
2. c - Cystinosis · ' .
is
In this scenario there glycosuria with normal serum glucose and metabolic ·
acidosis \·vith an inappropriately alkaline urine. This suggests there is a
proximal tubl,llarleak consistent with Fanconi syndrome. There are a number
of causes of Fanconi syndrome such as galactosaemia, mitochondrial· '
disorders. tyrosinaemia, frudosaemia,·Lowe syndrome. Wilson's disease·. ·
cystinosis, and heavy metal poisoning. Cystinosis is an autosomal recessive'
defect in the transport out of lysosomes. It leads to a multisystem disorder..
Early featu;es inch.ide _Fanconi syrldrome, photophobia' due io cysteine · · ·: '
crystals in the cornea, and hypothyroidism, Renal failure occurs around 1o ':
years of age if untreated. Diagnosis is confirmed by raised peripheral blood ' .·
white cell cysteine levels. . · ' ·
3. D- Lowe syndrome . .. tn
. The occulocerebrorenal svndrome of Lowe is an X-linkea disorder . · '\''
characterised· by congenital catara,cts, hypotonia. intelledual .impairment. and.
renal Fanconi syri~rome. Hypokalaemia' is not marked. There is no specific • 1'.· ·
}
78
'.
NEPHROLOGY>
79
ESSENTIAL QUESTIONS FOR MRCPCH
,• ,,
...
r.,_, '•
A
•
.
j . I
.t
. \'•
:1:
80
Tammy Hedderly
2. Friedreich's ataxia
0 A is caused by an expansion of GM trinucleotide repeat
0 B motor nerve conduction velocities are usually normal
0 c usually presents in the first 6 years of life
0 D cardiomyopathy is the commonest cause of death
0 E · requin;s p;s cavus for the diagnosis
' •}
4. 1\Jberose sclerosis
0 A is an autosomal recessive condition
0 B is associated with renal angiomyolipomas in approximately 80% of ·
people
0 c is excluded if the brain magnetic resonance imaging is normal
0 0 is associated with retinal hamartomas
0 E is associated with autism
ESSENTtA;_ QUESTIONS =oR MRCPCH
·-
0 B peri\'entricularwhite matter lesions occur less commonly than in
multiple sclerosis on magnetic resonance imaging
0 c a relapsing course is more common than in multiple sclerosis ·
0 0 'the EEG demonstrates excessive slow wave activity -
0 E headache, fever and meningism are less common than in multiple
sclerosis
82
- _;
NEUROLOGY
• "1-,~
''
..
.83. •
ESSENTIAL QUESTiONS ~::>R. MRCPCH
--------~------------------------
15. /!;.newborn pre;;;~nts with a w~ak suck and weak cry. There is a .
fluctuating ptosis and hypotonia. The baby has attacks of ·· ·
apnoea. The motber'has"no "medical h·i.story of note. The'tests
for anti-acetylcholine receptor antibodies a're negative and .
there is a decremen~l re~ponse on r!!pe'titive nerire sti.mulation'
~- """ ,. ,. "' •• -. ' 11' • • ' •• •·"' '.-< '!"'>,. . -~ ,
84f 3
NEUROLOGY
18. A child presents with a facial palsy several weeks after a flu-
like illness she had in the school holidays. She also has
musculoskeletal pains and headache on direct questioning. On
examination there is also splenomegaly and generalized
lymphadenopathy. Which of the following investigations will be
the MOST useful to aid diagnosis? ,
0 A Borrelia antibody serology
. 0 ·B Magnetic resonance imaging scan
0 c Anti-basal ganglia antibodies
0 D Stool culture for viruses
0 E Serum treponema! serologic tests
0 A Cluster headache
0 B Tension headache
0 C Hydrocephalus
0 D Chronic paroxysmal hemicrania
0 E Classical migraine ·
·•
.
,. .. ' ' ' • j
~
0 B Diencephalon ..
'\ ~ ~
0 E Medulla 1 ' •~
...~
i
'
. •·'
{" ' . ~ (L
·- .1.l,~f.! :. 2i-l' ; ....-_of!
- ·!
86
NEUROLOGY
81
ESSEf\jTIAL QUESTIONS FOR MRCPCH
0
. . :" ~... ..
Eachoppon may be used once! moie than once. or notal all. · ·
...
, '
' I •
.., 4· • n. !
~ 'j
c' :>
\ ... ' . • .t
. ,,·
'ss
1. Neurofibromatosis type 1
'AnS\ver:s: B D '1. ' }'
89
ESSENTIAL QUESTIONS FC :::. MRCPCH
3. Cerebrosplnarnuid f"mdings
Answel5: A D E
CSF is produced mainly by the choroid plexus. It' should have a clear and
colourless appearance. Normal values in a child are as follows: protein 5-40
mgtdL; glucose 40-80 mgldL \\ith a CSF to blood ratio of0.6; cell count< 5 x
109/mL. In tuberculous meningitis the glucose concentration will be
decreased, with a high protein and increased cell count. rn Guillain'Barre. the
protein can be normal or raised. Values peak between days 4 and 18. There
are often oligoCional bands that indicate local synthesis of immunoglobulin
within the central nervous system. Oligoclonal bands can occur in multiple
sclerosis. in sub,acute sclerosing panencephaHtis and in Lyme disease.
Xanthochromia occurs With cell counts above 500tinm 3 • This is a red-orange
colouration of the CSF that occurs after breakdown of red blood cells.
Oxyhaemoglobin is released and, can t?e detected 2-4 hours after a
subarachnoid bleed. It remains for 7- J0 days. Xanthochromic CSF also occurs
in hyperbilirubinaemia, hyperproteinaemia, hypercarotenaemia anq with ·
some drugs. ·
4: 1\lberose sclerosis
Answers: B D E
1\lberose sclerosis is a COt:Jlmon multisystem disorder affecting 1 in 5000 to 1
in 10, 000 newborns. Hamartomas or tumours mosfi:ommonly affect brain,
kidneys and skin. It is a dominantly inherited condition' but 6o-7o% of cases
are sporadic and represent new murations. 1\vo genes have been implicated,
TSCJ on chromosome 9 and TSC2 on chromosome 16. Renal ·
angiomyolipomas are benign hamartomas containing smooth muscle cells,
blood vessels, and fat They are often asymptomatic in children. By adulthood,
.complications can include renal failure~ haemorrhage and mechanical ·
obstruction. Normal imaging does notexcluae the diagnosis and MRI is
preferable to CT; although CT caD be helpful to detect calcification. The·
predominant neurological manifestations include seizures,' learning -
dtffic:;ulties ali.cll::l_~h~~9_1:1ral problems. , . . •,· _. _
Answ~r: D . , .r ~- ·;, .· -~
;'<. 90
-,., ..
. NEUROLOGY
sclerosis (MS) is made. There are many pathological and clinical similarities
between ADEM and MS. In children; ADEM 'is diagnos~d more freque.n.tly tK:im
MS. Some features help point tmitards ADEM as a diagnosis. Unilateral optic
neuritis occurs less frequent!}; in 'ADEM than in MS; for e~mple: MRI can,b~
useful. In ADEM there is relative sparing of peTi\;entricular white matter and
follow up scans can show partial or cor:nplete resolution in contrast toMS
where there may be new lesions. The EEG is frequently abnormal in both
groups 'With slow-wave abnormalities being a non-specific' sign of the
encephalopathic process. The·correct diagnosis is important as the risk of
relapse and prognosis is very different bet\veen ADEM and MS and the best"
way to differentiate the cortditions is the subject of ongoing research.··
Am .ver.s: A CD E
Since the onset of genetic screening for th.e MECP-2 ge'ne on chromosome .
t.x92~ ~e p~7~o~e}or ~ett s{;:~;p!)le ,~~,b::n noted t~. be bn?~d~r:d ~on- .
speclfic.•The mhentance 1s presumed tOpe x:lmked dommant With early male
J~thaJ}ty: ~upportive criter!2 f?r~;qi.~gnosis)nclude los~ o.f ~cqu!red.?.~il!s.
acqmred rrucrocephaly, de\"elopmental delay, and aut1st1c features with ...
stereo typic himd movements. The' head growth usually slows between 2-4
months of age but is often unrecognised. Failure to thrive is common in
children with Rett syndrome. Dysfunctional swallowing may necessitate
gastrostomy tube placement. Fluid intake needs to be increased to
compensate for drooling and hyperventilation.
8. Ion channelopathies
· · Answer.s: All true
Neurons. nerves and muscles communicate through electrical impulses
mediated by rapid transit of ions through channels. Many diSorders have their
basis in dysfunction of ion channels. Channelopathies are sub-divided
accOrding to the ion channel involved in the molecular defect. The symptoms .
are often paroxysmal but are often associated \\1th progressive dysfunction
and disability. Sodium channelopathles include the autosomal dominant
91
'ESSENTIAL Q'-'::STIONS. F:Ji'l. ~-'IRCPCH
o > i • (. • •- ·~.. I
I 0. Febrile seizures
Answers: B CD
Febrile seizures are one of the commonest neurological disorders of.
childhood. The diagnosis is clinical and an EEG is nolindicated.,The
outcome is usually good. The recurrence risk for febrile conwlsioris is ..
increased by betvveen 20-40% in younger age$ and if there is a familv
history of febrile conwlsions. The risk qf epilepsy following febrile S'eizures
.....Js .multiplied by a factor of four .when.coJ11pared.to:the-population. Risk .•
factors for epilepsy include posit.ive family history, and prolonged or : ,.
atypical febnle sc;iwre~. Remer;nber, if!.children with e;pilepsy fever may .
lower the seizure threshold. ,. · · · .
t ?'' ...
11. Neuropathy
Answer: All true
Hereditary neurop"athies co~stitute a complex heterogeneous group of
disorders. The); freqliently ha\'e insidious onset and slow indolent
progression:T~ere are sey~ral_ main groups;- afew exa~ples are: hereditary
motor and sensory neuropathies, such as Ch;ucot-Mane-Tooth; , , ~
i?
predominantly sensory:':'europathies (~.I ·IV1: ata~ic neuropathies such
as giant axonal neuropathy: metabolic~disbrders; and degenerative disorders
92 .l
. ,..
.L
94
NEUROLOGY.
(I)
cholinergic'nerve'terminals and' dis~;upts the exocytosis oi.acetylcholine, .f• ' . ~·
Positivestool. culture o_rJsolation ofioxin.fs d.ifticult because of constipation. n
Manar ~~e~~·is supportiv~., Pupi·Il~ry respo-~se.:i sh?uld-not_be affe,c'ted ln the .11
other c. ~nditions. A positive.Tensil_ot;qest \y-ould ~t;._expected wit)l,myasthenia n'
syndromes. The EMG in congenital myotonic dystrophy may.de;monstrate;J . ;
myotonic pot~nt~al~.qril)g,at highratesJhatwax a_I;ld warye in frequency-an.c! ·
ampliJude. •
· ~-- -1 . . •
...... •. -'
• _. ~ ... •
, ."
••• "~- _,, ...,'11 :·1
" • .< '" ' • •
95
.;.
·.······~~
.. ;;:, :£. ESSENTIAL QUESTlONS F8~ MRCPCH
·. :~t~:~~
Decorticate posturing to stimuli occurs. Plan tars are extensor. With
involvement of the low pons-upper medulla the patient will' be in a coma with .
tachypnoea. Small mid-position fixed pupils are present. Vestibulo-ocular
reflex is absent. There is fla.:cid flexor response to noxious .stimu~i. With .
involvement of the medulla the patient will be in coma. Breathing will become
apnoeic; then stop. Pupils are fixed and dilated. There is novestibulo-ocular
reflex. Limbs are flaccid 1.vith no deep tendon reflexes. ., ., ·- '
Ut ,. .
c 23. ANTI-EPILEPTIC MEDICATION
96
Spik~andwaVe in'thetempo~<;>parietaf region Whilst aWaKe, and frequent
:generalized, spike waye discharges (ESES, electrical. sta_tus epil~pticus) in
sleep. :. · · · ·
97
' . ' ..
,,
... ,
..
' ~.
,, ,.
i· ' _)' •• 1 ~ '
,,.
'•
..
.l
'oft. ,,
'
'· '· cJ"T .. .~
r . ..
A'
•,,
- - - 1_
~Mike Champion
b1'iSI.'"m"~L:..-;z~.....~::~~~---="""-'·~~--~~,!;.S=.::·-
,~, .• lr '
..
5. The following are causes of ~on genital cataracts
0 A maternal diabetes
0 B galactosaemia
·- 0
0
.0
C varicella zoster
D hypothyroidism
E ~maternal ~teroids.
0 D Leber's amaurosis · ~. .
0 E Joubert syndrome
9. In congenital rubella syndrome
. • . - " ,J: ' .- ._ ~• \
1 o. In orbital cellulitis
0 A blood cultures are often negative ' ' •· i •
0 B Staphylococcus aureusis the most common cause in infancy
0 C incidence is greatest in children over 5 years
0 D investigation includes sinus X-ray ,
0 E intravenous antibiotics alone are sufficient to clear the majority of
cases
...100
....... f, OPHTHALMOLOGY
··r . '.. ·.
12. Ptosi$is afeat.ure..._of ;" ·~· "•' . 111!111•
0 A M6biussyndrome ,.
0 B Kearns-Sayre syndrome
0 C .j<abduc~Jl~·P~Jsy ~t. tr;,· ~ • ··_,.) 'li" • i ,-;,
0 A is commoner in girls
0 B is assoeiatecl,with atopy
.0 C is ·~eas8nal " i J
0 D requires long-term corticosteroid use
0 E has photophobia a common feature.q .. 1 • " • • ·
0 E intracranial haemorrhage
0 _J3 . to:x;ocariasis
0 i: retinoblastoma .. · .,. .
0 D Hurler syndrome
0 E persistent hyperplastic primary vitreous
101
·ESSENTIAL QUESTIONS FOR MRCPCH
-·- 0
0
0
A Blindness in one eye
B
C
Homonymous hemianopia ;
Bitemporal hemianopia
''
.•.
0 D Peripheral field defect
0 E Central scotoma
0 A Chlamydia t:.
.0 B Neisseria gonorrhoeae
0 C Haemophilus lnjluenzae
0 D Staphylococcus aureus t:
0 E Herpes simplex
18. Examination of the pupillary light reflex in the left eye of a '
7-year-oid girl reveals an absent direct reflex and normal
consensual reflex. These findings are MOST consistent with·
which one of the following? • r· "' _,;.;:;_
0 A Left oculomotor nerve palsy
0 B Right oculomotor nerve palsy
0 C Left Horner syndrome
0 D Left optic nerve lesion •
0 E Right optic nerve lesion
. ~c ~.. ~ ..
19. What is the treatment of choice for Toxocara canis infection in a
3-year-old boy presenting with leukocoria. Fundoscopy reveals '
a large lesion close to the. macula with marked inflammatioil •. - ..
0 A-Cryotherapy.. --··· . ·- .. . . . . . ·" ·.r 1
OPHTHALMOLOGY
0 A Orbital cellulitis
···0 ··>s Mastoiditis' ' ·~ ·
0' C Cavernous sfm.is'thtomoosis'· · ·.
0 D Frontal sinusitis
0 £ 'Cerebral ab:SCess
·(~ i -,~,:,. ,1~,
... -... 1·~j. . "..\'
,,
t~ . }. ...
. '
I ~. ; . ~
·\ . , j .
'•.
1-03
_ _ ;,_'-~."[
. r:
-
' -.. ~
,,
23. Theme: Eye movements
t'O
~-- ~·.
A
B
Abduction of the right eye
Adduction of the right eye
-- .;~ ... !.
H Downgaze ...
All directions
~~
For the three ·causes of disconjugate eye movemencs described below, select the
position of the eye where diplopia is maximal from lhos~ listed above. Each;
option may be used once, more than once, or not m all. tJ
0 I. Right-sided Brown's syndrome. ,{;, ·
0 2. Right-sided abducens nerve palsy.
0 3. Right-'sided trochlear nerve palsy. ·-- ' ·~ t ·•
•f t •... rt. l ·-.
; 104
OPHTHALMOLOGY
-·
F
G Vigabat.rin .
Corticosteroids _,.
H
insulin 0
Match the following adverse effects to 1he dhigs listed above. Each option may
be used once, more than once. or not at all.·
::s
U')
0 1.' \ isual'field defect.
0 · 2. Colour blindness:
0 :3. corneal deposits. . . I
./ '1,
'.
..
;
•;
:
! ·"
, . ,,) .
lOS
" ' - -. '
ansWers
. '.
"'' 1. Retinitis pigmentosa
Ansvvers: '8 C t'
Retinitis pigmentosa is a progressive disorder predominantly affecting rod :,
cells. and therefore poor night vision with abnormal-dark'adaptation}s·~ '
common presenting symptom. Peripheral vision is affected first, where the '
.. ' rods ~rp concentr~~ed,_resultingin sparing ()f the central vision and,the',,l\. •
development ·of tunnel vision. Afou.nd Sp% of ca:;es are sporadic, 20% are• .·"
recessive. 20% are dominant and 10% are X-linked. Associations include ~- ·
abetalipoproteinaemia, Refsum syndrome, Laurence-Moon::-Bied!'syndrome;·
mitochondrial disorders, Friedreich's ataxia, neuronal ceroid iipofuscindsis, ·.
Usher s)IJldrorne. and Chediak-Higashi di,sease. The retinitis-pigmeritosa ~( ·
abetalipbproteinaemia may respond to vitamin E supplementation. ··
4. Glaucoma
Answers: CD E
Glaucoma (raised intra-ocular pressure) results in expansion of the eye size in
infants under 3 years of age, and damage of the optic nerve head. Congenital
glaucoma results from abnormal drainage of the anterior chamber due to
abnormal angle structures. Secondary causes include eye diseases that affect
the anatomy making outflow obstruction more likely, and these include
aniridia. Sturge-Weber syndrome, Lowe syndrome. neurofibromatosis type I.
Mar fan syndrome, retinopathy of prematurity, and rubella syndrome.
106
·OPHTHALMOLOGY ..
5. Congenital cataracts
Answers: All true .
50% of congenital cataracts are idiopathic; The most cominon identifiable.,, .
cause of congenital cataract is autosomal dominant inherited cataract, and
therefore the parental history and examination need to be thorough. Other
causes include maternal disease such as diabetes, and the maternal ingestion
of exogenous steroids. Intra-uterine infeCtions (3%)'and systemic disease (5%)
account for oniy a small number of cases.
' \ .
6. Retinoblastoma
Answers: A C £
Retinoblastoma arises frnm the l'etinausuallypresenting with leukocoria ..
(White .lUpil)'or squint. Usually the disease is painless, unless tumour necrosis
results in inflammation. Calcification is common and can be detected by t;:r
. scan of the·orbits. The retinoblastoma gene is located ori chromosome I 3 an'd
is a growth suppressor gene. Disease resulrs from a double hiL In hereditary
cases, one affected gene is inherited and the second undergoes mutation after
conception. sporadic cases result from spontaneous mutation of both gen~s:
Cure rates are 90%in uni~ocular disease. Large tumours require enucleation.
Smaller tumours can be treated with radiotherapy or chemotherapy. The risk'of
recurrence in the unaffected eye .is 20%, and falls markedly after 2 years.
Patients are at risk of developing late secondary tumours, even at distant sites.
7. Blu~ scie~ae
Answers: A c
Blue sclerae are not the soulpre$erve of osteogenesis imperfecta, but are also
seen in other conditions with connective tissue involvement. These include
Ehlers-Danlos syndrome; h,Ypophosphatasia, Marfan syndrome, 1\lrner
syndrome, arid trisomy 18.' · . · ' ~-
Blue sclerae· are seen in the most severe osteogenesis imperfecta (types t
and Il)atid are·not a feature-of the milder dominantly inherited formscThe ·
bluish appearance results from thinning of the sclera, which allows the black
choroid to be slightly visible. fj-thalassaemia is associated with icteric sclerae
secondary to haemolysis.
• .' ~ • ' I~ -. . ,{_ 'I
107
' .:-t~ ~.·q~~.~
f
· '·. :'· ·
.-.
Answers: A B D
Chlamydia! conjunctivitis typically presents after,48 hours, unlike gonOC!JCC~I
conjunctivitis, and may present as late as 14 days or more: Diagnosis is ' .
confirmed on Giemsa staining of conjunctival scrapings to reveal cytoplasmic.
inclusion bodies. Oral erythromycin is the treatment of choice having the • ,
advantage overrtopical treatmentof clearing na.sop!1aryngeal carriage,
reduci~g the.risk o~rec~rrence. Parents.,. even if as)mptomatic- require .
treatment. Pneumonitis occurs in approximately I 0-20% of cases, and usually
presentsf much)ater,
., , , ;
between 3 and II weeks.. . . t. r' ' ,. .)
108
OPHTHALMOLOGY
12. Ptosis
Answers: A B E
Mobius syndrome results from a combination of facial nerve (Vllth) and .
abducens (Vlth) nerve palsy and is often associated with an oculomotor (IIJrd)
nerve palsy. An isolated Vlth nerve palsy causes failure of abduction of the
eye, but does not affect the lid. Kearns-Sayre is a mitochondrial dis?rder with
progressive external ophthalmoplegia (reduction of gaze in all directions), ·
ptosis, pigmentary retinopathy; and heart block. A collodion baby is covered
with a tense cellophane-like membrane resulting in ectropion as the tissues
around the eyes are held in traction. The ptosis ofMarcus-Gunn jaw winking•
syndrome resolves on mouth opening and lateral mO\•ement ofthe jaw. It
results from aberrant innervation of the levator muscle of the eyelid from the
trigeminal (Vth) nerve. '
15. Leukocoria
Answers: A B c E
Leukbcoria is defined as a white pupil imd is indicative of an opacity at or
beh'ind tne. pupil JOfthe lens, vitreous or retina). The differential diagnosis ·
include~ cataract. retinoblastoma. toxocariasis, persist~nt hyperplastic .
prim~ry Vitreous. mye!in;'lted nerve' fibres, and retinopathy or prematurity.
Hurler syndrome and the"muco·polysaccharidoses- with .the exception of
Hunter sjndrorru'i- are associated with corneal clouding. . •
109
.
ESSENTIAL QUESTIONS FOR MRCPCH
1 7. B: Neisseria"'gonorih.oeae
The very early onset makes Neisseria gonorrhoeae the most likely organism,
usually presenting on day 2-4 of life. Staphylococcus and Streptococcus cause
purulent neonatal conjunctiyitis, but present lat~r (day 4-7). Chlqmydia
produces a serous or purulent discharge (day 4-1 O).Haemophilus tends to be
a serous discharge (onset 5-l 0 days) as does!hetpessimplex, but the onset is
much later 16 days to 2 weeks).
The findings are consistent \'lith damage to the optic n~rve in the affected eye.
In lllrq nel'Y,~ pa}syt~~ pupU,~s fi~~<;l·d.iJ4!_~d C!nd q?e~ ~pt r,~?~~ toc::Ur,ect or .
consensuallight. In Horner syndrome the pupils ar:e smaH due to the . .
interrupted s.Ympathetic supply to the pupill~ry dilator'inllsc:le, but are able to
constrictto lig~t. . .. j ' . ' ' '~. 1 ' ;, . '
'··
19. B: cOrticosteroids
.
, '!>
The siting of the lesion requires active m;:magement. Steroids are the .....
preferred choice, either systemic or periocular. Small peripheral lesions may
be observed. The use of antihelminthic drugs is controversial as death of the ·
larva can exacerbate the inflammation, and steroids would still be prescribed.
Laser therapy has been advocated but it has the sarne inCreaSed rfsk of '
inflammation following death of the larva.
20. A: Adenovirus .
Viral conjunctivitis is usually caused by adenovirus ~nd 1s v_e,ry c6ntagious.
First one eye is involved, and this then spreads to the other..Signs and .
symptomsinclude tearing, redness. and the sensation of having a foreign body
in the eye.lfthe cornea becomes involved, then photophobia can de\·elop.
110
. _ _J ---
OPHTHALMOLOGY
over the forehead and may be the source of the infection along withsphenoi~
and the ethmoid sinuses. Mastoiditis presentswith swelling over the. mastoid
air cells behind the ear. A c;erebral abscess is more likely to present with .
' altered consciousne_ss, v~imiting and pyryxia: • ; .. . ' .
.· . \. -~ . . . ' . ' f':
Ill
: . ..
' ~:' ..
'
. . . .
r ESSENTIAL QUESTIONS F:.OR MRCPCH
~
.'
-~
.( 4iV •
I i2
';.
. t,
.Multipl~ C~?oice.Questions
1. Erythema nodosu.m is a recognised f~ature of !. ,.
0 c pneumococcal pneumonia
0 D pulmonary tuberculosis
0 E Kawasaki's disease
'i 13
·-····
ESSENTIAL QUESTIONS MRCPCH ·
0 D GMJ gangliosidosis
0 E. neurofibromatosis type I'
8. Causes of bronchiectasis include
0 A sarcoidosis
0 B primary ciliary dyskinesia
0 c gastro-oesophageal reflux ·'
0 D pertussis infection
0 E measles infection _
,.
'. ' i
II• ·The following is true of (ood allergy
0 A peanuts are the commonest cause of fatal food-inducecfreactions · ~~·.'I
~,,;_,.,..
0 B allergy to hen's egg is commonly outgrown
0 C other anergies are uncommon
0 D the diagnosis can be made on the history alone
·,
...
· '
r·m .
~~~::.~·~
~. (/)
0 E peanut allergy usually resolves
.......
12. The following is true of of tuberculosis'.
0
0
0
A
B
C
the incidence is falling worldwide
notification to public health authorities is required .
..
a tuberculin test wheal > 5 mm is significanUn any child. ··
-··
0 D isoniazid cancause peripheral neuropathy •· ·
0 E children are less p1 one to extra-pulmonary complications than' adults
13. In cystic fibrosis
0 A life expectancy depends upon nutritional status
0 B ·life expectancy is. on average, 20 years
0 C eczema can cause a false-positive sweat test
0 D cystic fibrosis transmembrane conductance regulator (CFTR) fails .to
in
absorb chloride ions the lungs
0 E raised Aspergillus IgG lilre is characteristic of a1lergic
·bronchopulmonary aspergillosis
14. The following cause vasoconstriction of the pulmonary
circulation
0 A hypoxia
0 B nitric oxide
0 C prostaglandin 12 ..
0 D platelet activatingfactor
O E histamine ·
15. Lung compliaric€nninfants
0 A is defined as the volume change. per unit of pressure
0 B increases with age
0 C is increased in respiratory distress syndrome
0 D is independent of lung volume
0 E is dependent on type II pneumocytes
16. Recognised extrapulmonary complications of cystic fibrosis
inClude ·
0 ·A hypertrophic osteoarthopathy
·0 B rectal prolapse
·0 C glotl;lerulonephritis
0 D azoospermia
0 E diabetes mellitus
'
115
.
ESSENTIAL 91,J,ESTIOJ;IS FOR MRCPC::H
-.
17. Recognised assodations 1of.primary cili~ ()ysldnesia includer
"'
·c'
..rJ:
0 ..~. 1 ,!1Jfe~ility . .
0 B
· ·~ Jr
nasal polyps ..,
, :1
."
• , ••
,,
..... 0
0
0
C
b
E
hydrocephalus
bronchiectasis , .1 •
malabsorption
. .• , •
. ~:- l
I ,
''
., .,. '
''
• I
,,. ~. ~(
.. ·:
' i
·- .. ~
r .Tr
. '....
..,
...116
~ .,~
RESPIRATORY MEDICINE
-·
fibrosis? .··
0 A l ~n 4
0 B I in 100 ..
0 c 1 in 160 '
I;
0 D 1 in 200
.. ~ ...
0 E 1.in 2500
'
·.~ .. ,. !
20. A
.
2 "year-old boy has a history of lethargy and falling asleep
' .
during the day. His mother reports that he snoresJoudly. Which
is t.he MOST useful investigation? · ·
. . ~ f ·_;; ' ' . ~·
117
E~ENTIAL QUESTIO~S FOR MRCPCH
24. In a child who pre~ents with ascending paralysis of the legs and
areflexia, what is the MOST useful method of respiratory ·
momtoring?
0 A Respiratory rate ,1
0 B Partial pressure of carbon dioxide in arterial blood' (Pco2 ) ,
0 C Oxygen saturation · ··
0 D Vital capacity
0 E Peak expiratory flow rate
. ,.
. . .
25. A 3-month-old baby has a history of wheeze and coughing
usually after feeds, since birth. Her weight is normal ~d on
examination she has a Harrison sulcus and a hyper-expanded
chest. Which of the following investigations would be the MOST
useful?
0 A Flexible bronchoscopy
0 B Computed tomography (CT) scan of the chest
0 C Ciliary brushing for motility
0 D Sweat electrolytes
0 E Upper gastrointestinal (GI)cohtrast sh.iay ·'·-- ··- -----· ···
118
J.
~
'"'"•·-'"
.
.
. .
: . .. .
RESPIRATORY MEDICINE
..
0
0
A Total lung capacity (TLC) 'u)
!.
0
B Serial peak expiratory flow (PEF) rates
c transfer factor ,.,...
-·
•.
0 D FEF 2 H 5 .
0 E Residual volume
i .
. .
. ···
' .
119
•"'
ESSENT.IAL QUESTIONS FOR·MRCP,CH
'
28. Theme: Causes of chest:disea;se ...... !
RESPIRATORY MEDICINE
0
hyper-luscent right lung. liver displaced downwards. , · ·
3. A 5-month-old girl with_HJV infection presents with a 1-weel< history
of fever, cough and dysp!loea. On .exatnination there are cr~ckles"
-·
throughout her chest. Oxygen.satur.ation: 85%. CXR:_b~lateral di[fuse
, shad(}wing. Nasopharyngeal aspirate for bacteria, viruses andfu~gi:
normal. • . . .. / .•
' 121
, ~ : ~
'"'J
1: Erythema nodosum
Answers: A CD
Erythema nodosum are tender, nodular erythematous lesions which occur ·
mosi commonly on the shins followed by thighs arid arms. They last for 1~2
months and evolve into blue bruise-like lesions. causes include infections
(Streptococcus: Salmonella. Ye'rsinia, Campylobacter. tuberculosis; Chlamydia,
hepatitis B. and Epstein~ Barr virus), inflammatory disorders (such as
sarcoidosis, ulcerative coliti~ and Crohn's disease), malignancy and drugs,
sulphonamidesand the oral contraceptive' pill. •·
· Ansh·ers: B cE
The exchange of gas at the alveolar-capillary interface is achieved by passive
diffusion. Fkk's Uiw states that the diffusion of gas is proportional to the .
tissue area'of the membrane and the difference between the pa'rtial pressures
of the gases on opposite sides. Diffusion is inversely proportional to the
thickness of the membrane. Properties of the gas are also important, diffusion
is proportional to gas solubility and inversely proportional to the square root
of its molecular weight. Carbon dioxide diffuses through tissues 20 times
··122
RESPIRATORY MEDICINE
faster than oxygen, because it is more soluble. According to Fick's Law the
volume of gas transferred is gi\·en by:
r. . , _ {A X DX (P 1-:-P2)} '
\;u- T
4. Digital clubbing
Answers: A DE .
Digital clubbing is an important clinical sign. The first change'is loss of the
nail-fold angle and a fluctuant bagginess of the nail bed. Increased curvature
of the nail bed and enlargement of the distal phalanx occur later. Causes. •
inciude any cause of bronchiectasis or cyanotic heart dlse~se, •uberculosis,·
empyema, malignancy, bacterial endocarditis. biliary cirrhosis, chronic active
hepatitis and inflammatory bowel disease.
5. Nasal pc;>lYP?
.. ..,. .
~
Answers:B CD .
Nasal polyps present with nasal obstruction, symptoms of rhinitis (decreased
smell and rhinorrhoea).and.an enlarged nasal bridge. Very often theY:are
ignored; as they can presentinsidiously. Cystic fibrosis must be considered in·
any child with nasal polyps. but they also occur in chronic rhinitis and the
triad of nasal polyps. asthma and aspirin hypersensitivity (Sampler's triad),
more commonly seen in older children and adults. Wegener's granulomatosis
is a necrotising vasculitis found in the lungs, joints, eyes, kidneys, sinuses arv:!
nasopharynx. It causes ulceration and bony destruction in the nose, with
symptoms of rhinorrhoea, nasal congestion and sinus pain.
I
!
123
.; .
ESSENTIAL QUESTIONS FOR :·iRCPCH
i '!"
7. Enlarged tongue
Answers:Aco'·-
.
·>-JA. :<'· ·~
.... , ~~.. ~ .
An enlarged tongue can obstruct the airway and lead to an emergency,
~,_
J
. ·-
'l
.
'
.·-, - .
'" ,.,. 'h ' . ...
particularly in infants who ha~·e small nasal passages. Tongue-reduction
surgery is successful. It occurs in hypothyroidism, mucopolysaccharidoses,
trisomy 21 and Beckwith·:-\\:iedemann syndrome: Pierre Robin sequence is ·,
caused by a posterior attachment of the tongue tpgether with ·a small - '
mandible resulting in pseudo- macroglossia and the tongue commonly falls
back to obstruct the airway. . :... .J a ~ '·· ' ~' · • · ·
8. Causes of bronchiectasis
i;- ~ • ' ... -'.. " y • • '
124
·~r r-- --
RESPIRATORY MEDICINE r-
~
I 0. Adrenaline
1l .
".'
Answer: B
Adrenaline is an endogenous catecholamine secreted by the adrenalmedulla. ·::s
~. fl)
With increasing dose it stimulates~~ (increased heart rate and contrac~ility)
and ~2 receptors (bronchodiiatation, peripheral vasodilatation and reflex
tachycardia). At higher doses o:-receptor stimulation dominates, causing·
-~
peripheral vasoconstriction and elevation of systolic blood pressure.
Adrenaline inhibits insuiL\ relea~e. causing hyperglycaemia. Adrenaline is the
treatment of choice for severe allergic reactions (anaphylaxis) and should only
be administered intramuscu:arly, except in extreme circumstances. Children
.
..,,
tD
.,
who have.had a previous allergic reaction involving airway narrowing or who
also have asthma should be ?TOVided with pre-loaded adrenaline syringes.
12. Tuberculosis
Answers: B D
The incidence of tuberculosis worldwide is rising reflecting increasing Hfv ·
(human immunodeficiency\-:rus) infection, poverty and overcrowding. All cases
must be reported topublic health authorities. Thelungs are the commonest site
of infection and source of spread, although extra pulmonary complications, like
~uberculous meningitis, are more.common among children than adults.
Symptoms are highly variable so one must always consider the diagnosis in any
child who presents with fever. anorexia, .weight loss and cough. Therapy is with
isoniazid and rifampicin for 6 months and pyrazinamide for 2 months.
Rifampicin turns secretions. such as tears (warn patients not to wear contact
lenses) and urine orange. Iso:-~iazid and rifampicin can cause deranged liver
function tests and isoniazid can cause peripheral neuropathy. Ethambutol (risk
of visual disturbance) is usee in resistant or high-risk cases.
125
V'l-:'Yc~
"'' "' •' -ESSENTIAL QUESTIONS FCO' MRGPGH
r . .
I
) 3. cystic fibrosis
Answers: A C
cystic fibrosis is an inherited recessive disoraer of chloride secretion in the
lungs and exocrine glands. The· gene on chromosome 7 encodes CFTR.
Deficiencies in CFTR lead· to failure of chloride ion secretion and excessive
sodium ion absorption, leading to "dehydration of ainvay secretions~ The ions
are transported In the opposite direction in sweat glani:ls and this forms· the
basis for the sweat test; a sodiuin or chloride ion concentration > 60 inEq!L is
diagnostic. Median life expectancy is now 40 years. Allergic ·'· ·
. bronchopulmohary aspergiiiosis (ABPA) occurs in cystic fibrosis arid asthma.
It results-from an overzealo_us lgE host response to colonisation with
Aspergillus. Typical findings are wheeze and a dry cough. Patchy infiltrates on
CXR appear in different sites over time; a high total and Aspergillus specific
lgE together with Aspergillus precipitins help with the diagnosis. ireaiment is
with oral corticosteroids and anti-fungal agents teg itraconazole). "'·
, . · • l, r ·, 'i'' • . ,. •• 1 .) o/""
14~ vasocon,striction of pt_JimonaiY, ci[CUI~tion 1 , ·,
., Ans\-vers: A DE· .• •, 1,
. The pulmonary circulation delivers blood to the ah~eoli for gas exchange: The
relatively low mean pulmonary arterial·pressure ( 15 mmHg) is maintained
t everi though the pulmonary atteries receive 'the entire i:a'rdiac output, because
of the extremely low vascular resistance: If the cardiac output increases (eg in
·•:> exercise) then the low resistance system will dilate ·and recruit previously ·
closed vessels, to accommodate. However, pulmonary vessels can also' be
,, ·made to constrict, and one of the most powerful stimuli is hyPoxia (di\•erting
•, ccirculation away from under-'ventilated areas thus avoiding '
ventilation/perfusion mismatth):'Nitric oxide is a po\\ierful vasodilator which
can be administered via inspired gas to treat pulmonary hypertension. Platelet
aggregating factor and histamine are released during inflammatory and
allergic reactions respectively causing vasoconstriction. · · ·
•126
16. Complications of cystic fibrosis
Answers: A B D. E
There are many extrapulmonarycomplications of cystic fibrosis (CF).
Gastrointestinal complications include pancreatic insufficiency (causing
steatorrhoea and weight loss) and diabetes mellitus (due to pancreatic
fibrosis). Diabetes in.CF is often straightforward to control and ketoacidosis is
uncommon. Diabetes gets more common with age affecting 7% of adults with
CF. Meconium ileus in the neonatal period occurs ip. 15%·ofpatients with CF
and dist<:H intestinal obstruction syndrome (DIOS) tn 10%. The diagnosis
should be considered in chilcren who present with rectal prolapse, although
constipation is a more common cause of this condith;m. Approximately 98% of
men with CF are infertile due to vas deferens obstruction. Sex hormone
functk n is normal but puberty is commonly delayed due to malnutrition.
n-eatmcnt of infections 'with aminoglycoside antibiotics over time can damage
renal tubules.
127
ESSENTIAL QUESTIONS FC=<. MRCPCH
l• 2. • • ••
19. B: 1 in 100
This question illustrates the commonly examined topic of inheritance. You will
be expected to know the carrier frequency (l/25) and the prevalence in the •
general population of cystic fibrosis (l/2500) and other common conditions.
We know the mother is a carrier and the father has a 1/25 chance of being a
rx
'carrier so the calculation 1/25 x 1/4 = 11100 gives the odds per
pregnancy of pro'dticing a child With cystic fibrosis.·The abnormal gene codes
for'cystic fibrosis transmembrane conductance regulator (CFTR); whose main
role is as an ATP-depehdent chloride ion channel. Defects in CFTR in the lung
.. result'in reduced'chloride secretion and hyperabsorption of sodium ions ..
· leading to \l}scid secretions. Remember that CFTR works in reverse in the.skin
leading to 'failure to reabsorb sweat and hence high sweat electrolytes the
basis of the sweat. .test.
, '•
i'
128
---L -
Rf:SPIRATORY·MEDICINE·
24 •. D: Vital capacity . . .
The case sc~nario describes 6Mn.ain-B~nre syndrome; a post-inflammatory
infectious poiyneuropathy. However, regardless of the cause all neurological •
conditions which affect ,breathing need careful mon}toring b'ecau¥
deterioration.and respi~atory failpre can b~ clinicai1Y silent. Peak eXRiratory
flow rate will be normal until':'ery late; the best measure is vital capacity. AlSo
pay attention to bulbi:u'functionbecause failure of gag and cough reflexes
leave' the patient vulnerable ~o aspiration and possible asphyxiation.
25. E: Upper gastrointestinal (GI) c~~trast study
This child presents with a pittureoflower airway. obstruction that is
associated with f~ds, implying the presence of gastro-oesophageal reflux
disease, an H-type. tracpeo-oesopliageal tfstula (fOF)or Viral~induced
wheeze. The most useful. information would come from an upper Gl contrast
study which should inc!lide a tube oesophogram to exclude aTOF. Flexible
.· bronc;hoscopy !s poor for excluding TOF; and ciliary brushing is used only for
the diagnosis of primary ciliary dyskinesia. It would be_sensible to screen for
cystic fibrosis ~t a later :Stage. ·· ~ · '·
129
'-- .
'
ESSENTIAL QUESTIONS FOR MRCPCH
~
·
Lung function testing can be useful in. asthma. Serial measurements of peak
rn···· expiratory flow rate are.easy io perform and are s~itable for home ·
75% of vital capacity and is ,less effort-dependen( but is only available with
spirometry.' Transfer factor meas'u'res dlffl.ision of carbon monoxide and gives
.a~ estimate opung diffusion capacity (reduced in consolidation and fibrosis
and ~ncreased in pulrrionarv haemorrhage). · - ·-·~ t:> · • • · ·. · • •
: i ,·/." ·- j '.,'!.': • ~~:')' -·i .1. ~(.:,r.,J il ; .J> .~>~.
• •, • ; I'
28. 'cAUSES OF CHEST DiSEASE '.{,If
',- •, r . '\ .
I. E- Cystic fibrosis :- . . '. '· . '
This is a typical presentation of bronchiectasis with failure. to thrive, a.~istory
of chesq!"!f~ctions, and digUal Slubbing. Possibl; ~au;;~s from the_ list of, .
options are cystic fibrosis and priritar)tciliary dyskinesia ofwhich'cystic
fibrosis [s more prevaient (I in 2500 versus I in 15, OOOj and therefore the
most likely diagnosis. Further clues that the diagnosis is' cystic fibrosis may
. include a history suggestive of malabsori>t\?n (pantp::atic_inslifflciehtyJ or
sub-acute bowei obstruction (distal intestinal obstruction syndrome),
meconium ;ileus, rectal pn;>l<:~ pse, chest in(ections with ~taphylococcus as'an
infant, or with pseudomo'nas at school age.'Uver dysfunction leading to
hepatosplenomegaly may also be app~re.11t., . , . ,14,) ••_ • ,, '!'· •, ,; ,
2. G - Pulmonary tuberculosis .
The girl presents with anaemia, weight ioss and mondphohlc whe~ie, with a
CxR suggestive ofhilar lymph~deriop~thy,J~C>J>9~siql_e di~ign9~e5qr~·.' .... ·..
pu.lmonary tuberculosis trn> and haematological malignancy. The presence of
digital clubbing makes 'pulmonary TB a more likely diagnosis: . ... · · '
3. . I.,- :Prtrniuj;ciliary dyskinesia . . , ·-· · · · · · ...! '
This case is very similar to case (1). However there is 'a predominance· of upper
ai!Way Syrrlptoms which makes primarjdliarydy~kinesia the most l!kely
diagnosis. Other clues may include~ family histofy.of inale infertility '
(autosomal recessive inheritance), dextrocardia in 50%, and abdominal situs
inversus. lfeatrne!)t is as for cystic fibro~is·with the addition of speci~list Ear.
~ose, and Throa((ENn. ma!'agement. . . . ,
.'
., .' ~-
. . '•' ,·.
130
1. G - Serum A.Spergilius specific IgE !i~t:-t
Allergic bronchopulmonary aspergillosis is a recognised compliCation of t';~..,
cystic fibrosis and less commonly asthma.jt arises as an overzealous allergic f':~:U')-
reaction to Aspergilhis colonisation within the airways, leading to mucous· ~. ::~<
impaction and airway narrowing. particularly of the upper lobes. Patients ~
P,resent with dry cough, wheeze and deterioration of lung function tests. It is ·~
suspected if total serum lgE is very high and Aspergillus specific IgE and · Ul
Aspergillus precipitins are raised. Treatment is with long courses ofor;:tl · --c·
steroids arid anti-fungal agen:s such as itraconazole. · U)
2. F- Rigid bronchoscopy
Foreign-body aspiration must always be considered in children who present
with a monophonic wheeze and unilateral hyper-expansion on X-ray. Rigid
broncL :>scopyis suitable for removal of such objects -flexible bronchoscopes
are too narrov.i.
3. ·c - Brorichoalveolar lavage
The girl is likely to have Pneumocystis carinii pneumonia. This extracellular
parasite causes a relatively common opportunistic infection in patients with T
lymphocyte immunodeficiencies (e'g HtV infection. CD40 ligand deficiency, or
Di George syndrome). Peak incidence is at age 3-6 months. Even when
hypoxia is present. chest auscultation may reveal no crackles. CXR almost
always shows bilateral diffu'se alveolar shadowing. Bronchoalveolar lavage is
the be~t method for isolating the organism, if it cannot be isolated from '
nasopharyngealfaspirate ('NPAJ or sputum. Tt!eatment is with high-dose
trimethoprim-sulfamethoxazole,. pentamidine, or dapsone. Children at risk of
infecti~:m should receive prophylactic trimethoprim-sulfamethoxazole. · .
131
.
'
... _, .. ;
·., I
~-~ - ----1
Nathan Hasson
133
ESSENTiAL QUESTIONS FC~ MRCPCH
·-
C antinuclear antibod)· positivity
0 D family history of psoriasis
0 E a poor response to methotrexate 1 •• , • ;-: •
0 C lymphopenia ·N
0 D inflammatory bowel disease .l J~Jl, .. rJ ~·- ""•... , "),J' .. · : ... ...rt ~ -...
0 E rheumatoid factor positivity - 1 n: ··· ·
1" L f\ ·-. <'t
e~ . . ,. ~
.0 B purulent conjunctivitis
0 C thrombocytopenia
0 D coronary artery aneurysms in 30%.
0 E generalized lymphadenopathy
J ,
-- ~'- ~1--
RHEUMATOLO,GY
I • .r ~-
.'
",_!.s
.:~':~l~·
135
. ~~~;;· ,·
ESSEf'~TIA:.. QUESTIONS FOR MRCPCH
~!
.
j ,,./.. ,
.........
16. A 3-year·old girl presents with a 3~week history of fever, with
:I 0,: daily spikes of 40"C, a pink rash that varies, painful muscles,
some swelling of her wrists for 7 weeks, and generali:z;ed ·
\.
lymphadenopathy. Investigations revealanaemia~·~!h a high
white cell count, raised platelets, very high erythrocyte .
. (I)
sedimentation ra~e an~ <:;: reac~ive protein_.. f\nti_nm;:lear antib<?dy,
. (I) double-stranded DNA, and rheumatoid factor are negative~
::s. 0
Which of the following is the MOST likely diagnosis?
A Systemic lupus erythematosus
•
~ ,l " r
'!
tT
f ; f-1
136
............
RH EU MATOLOG Y
0 C Enthesitis-related arthritis.
0
-·
D Perthes disease
0 E Reactive arthritis
! \.
. . f' .
'{ ..
J'"' ' . , ..
{'
'' . . ! ., "
•'
.i-f
.'
.. '·
."
:!
137
ESSE!'-::rlAL CLIEST!ONS FOR i1RCPCH
c- H
I
J
Acute lymphoblastic leukaemia
Chronic fatigue syndrome
Polyarteritis nodosa
Fot; each of the following case scentiriqs select the most likely diagnosis from
those lisled above. Each oplion.m,~Y;M·.t!Sf'!d once, more lhan once, or not at
pll. . ·' . .
0 I. A 4-year-old.boy presents with a !-month history of fever, rash. and
painful joints. On exam'ination he has ar'thrftis in both' knees but the
rest of his joints are clinica!fy normal. He has rash on his face.
Investigations show (normal ranges in brackets): haemoglobin 6.5 gtdL
(10.5-12.5); white cell count 5.6 (5-15) (lymphocytes 0.7); platelets 100
(150-400); eiythrocyte~~djJTient:ation rate '67 mrnJh (< 15); C reactive
protein 4 (< 7); antii}Uci~a(antibody 1 in 2560; boneinarrow blasts 1%
(Q-2%). ., .
0 2. A 9-year-old boy presents with pain in both heels for 3 months. He has
also been to the GP with a painful red eye on several occasions. On
examination he has an effusion in his left knee. decreased range of
movement in his right hip, and tenderness along the~Achilles,tendons
and heel. His erythrocyte sedimentation rate was I 00 mm/h; C reactive
protein 45 (< 7): full blood count normal; human le"!lkocyte a·l)tigen
(HLA) B27 positive. · •·
0 3. AS-year-old girl presents with arthritis in her right kn¢e,:and··left wrist
for 2 months. She has generalised lymphadenopathy. Ophthalmological
eXamination is normal. Investigations show her antinuclear antibody is
negative. Her erythrocyte sedimentation rate is 65 mm/h; C reacti\·e
protein 40 (< 7); full blood count shows a haemoglobin of9g/dL
(I 0.5-12.5); white· cell count 2.3 (5-15); platelets 97 (150-400).
138.
..•
• T
The new c;lassification of ·juvenile idiopathic arthritis' replaces the old one of
'juvenile chronic/rheumatoid arthritis'. Most patients are negative for · ·
rheumatoid factor; with only 2-3%. p<)sitive. For diagnosis of juvenile ~·
to
idiopathic arthritis, arthritis has be present for 6 weekS rather than tne old·
criterion of 3 months, in a patient aged less than 16 years. Systemic onset . ·· ·
juvenile idiopathic arthritis also occurs in adults. h1cid~nc~ iS I in I 000 and
there art eight subtypes. Generally more girls are seen, as the oligoarticular
form is the commonest, which is more frequent in girls.
~ ~ .... tt .• .__- ~~ .'{ 'i:J 't -' '.f'J .. ' .. t..
3.
) '•" ·- .
Polyarticular. juvenile idiopathic arthritis i·'
Answers: A CD:
'
r-., Rheumatoid factor is positive in 2-'3% ofpolyarti~ular juvenile idiopathic
arthritis patients. Low-grade fevers are only occasionally_seen ..
Thrombocytosis is a feature, as are raised erythrocyte sedimentation rate and
C reactive protein. Methotrexate is the drug of choice in both positive
rheumatoid factor and negative rheumatoid factor polyarticular juvenile ·'
idiopat.hit arthritis. Five joints or more are affected.
'·
4. Oligoarticular Juvenile·idiopathic arthritis
Answet.s: A B
Oligoarticular juvenile idiopathic arthritis is the commonest subtype of
juvenile idiopathic arthritis. It is diagnosed if four joints or less are affected in
the first 6 months of the disease. Oligoarticular juvenile idiopathic arthritis is
four times more common in females. Antinuclear antibody is positive in' .
6Q-70% of patients. Methotrexate is rarely used to treat the disease except for
139
~,~-"?~-
I
.
ESSENTII'.!.: QUESTIONS FC:"( MRCPCH
Some patients a!e positive for antinuclear antibody, and have a family hist()ry ·
of psori,asis. The condition respof!dS well methotrexate. . ' I. '' . to
6. Arthritis associated with inflammatory bowel disease
Ans\-vers: BCD . ,, ·• · •(
Inflammatory bowel disease-related arthritis is usually oligoarticular in ·. A
course. Se\~cer~ldjfferert,~!2n.Je~ion~ i_ncluping erytry~ma nodosum <~;re seen.
HLA B27 positiVity is a fe~tur~:;Su~(!l,~alazine !s the disease-modifying drug of
choiee~ Good joint outcome is usually seen., ·. · ..
"" • . T
1. Juv~nue'dermat6myositis '· ..
' . . ., ... · I ..
Answers: B c E .• . . ,
Rash is usually~around Ufe eyes.· associated with oedema, and spares the •.1
malar,area. Gottron's papules occur on the·extensor surfaces oftfingers, ii!1d
are red raised papular lesions: Pal,atal weakness leads lo nasa! speech. ·• ·
Antinuclear antibody is only positive in a small percentage. Creatine ldnase
levels can. be hormal but Iai:~~e dehydrogenase is ,often. r~J~ed~ . , , . . • ..,
!
RHEUMATOLOGY
9. Henocb.:.schorilein purpura
Answers: D
Henoch-Schbnlein purpura usually occurs after the age of 3years. There is a
male predominance. The arthritis is very painful but is not flitting, as in ·
rheumatic fever. Abdominal pain is usually severe, and complicationssuch as
intussusception occur. Immunoglobulin A complexes are seen in the skin and · ·.
glomeruli ifbiopsied. Renal involvement is common. Non-steroidal anti-
.inflammatory drugs are used, and occasionally steroids, to manage the
arthritis- but not methotrexate.
14l
FY;~!Yi
~~:· . .~.. ~J ~~..~ .i ~:.
·-·· i·' .ESSENTIAl! QUESTIONS FOR MRCPCH
AhS\1'C'TS:.A B D ''
·
' • < • ..J• ~
·
' 'I; .f ,I
tt · ~ • - ·
"I'<
...
11'· ,, ' ·'·'
· - · --- r
II
For the diagnosis there has to be proof of group 'A streptococcal infection.
Subcutaneous nodules are a major criterion. vmTmust'have: two major c:dt~ria
or one major and tvvo minor criteria for the dia~osi~.!-rJinuslear antib9dy .~s
a
i
I
1
usually negative. Arthralgia is quite often severe: and 'is mifior c!fi terion: The
· classical rash is erythema marginatum. which is a major criterion: The revised
. )ones:·criteria include,the following major_manifestations:wJ . 11 k , ···'· , '
• carditis
.f
• Polyarthritis ..... ,•. ' 1 ' · .,
:e rEi'yth:ema· margiriaturn . ·
.• Subcutaneclusnodules'·" ·
• Chorea 'Ci'- ''t rr: 01 · '' ,. ' '.
. . "Jll 1 .~.l: . ·1_,,·• ..; j •t :r ~,l
'142
AnS\:relS:AC-~-"..:t r1-~.t1 t:.-"'j-"! £>t'r ,:4 n- ··_.1:(, ·, --.t~·~- ./t.~""' • ~,-t_,._"' .~: • ··-~'• • "Tt
M'ethotrexate iS the most frequently used disease-modifying drug in' I
\•<paediatric rheumatology: It is.n6t only used·in.juvenile idiopathic arthritis; but
•· also in' den'natomyositis,~scleroderma. and in some patients with luplls: It can
cause nausea:whiCh responds to anti-emetics·such aspdansetron, or nausea
can be•av6ided if administered by subcutaneous injection. It can cause mouth
ulCers:: and folic acid supplements are given to prevent this and other.sidet
effects: PUlmonary fibrosis is·safd. to occur in adults but is riot·seen in••,, ·,f'
paediatric practice>Lhrer enzymes can .rise,:but not usually resulting in liver,
fibrosis. It can lower plateletor"white cell G:ounts, and occasionally · ;. 1:.: " '
haemoglobin. Rash is not usually a side effect
, ..,. --~ ~:: l ... :,_ ~.::.t ·-• ·~· ~v)~ -~ C""., 1 ; ...:Ch { v t
16. C: Systemic onset juvenileidioP.athic
1"-Jt-.'r.~ ~;.(. '* -~ arthritis
~ ¥-·' .~.~ i j f
. (.; ~ .
143
~"E ESSENTIAL QUESTIONS FOK: o1RCPCH
'I!
~_-_-.,::
;;,r.'
19. D: Perthes disease
Perthes disease is avascular necrosis of the femoral head. lt is more common
in boys ofthis age. Frequently it presents with referred pain to the knee,
rather than hip pain. The only sign on examination may be loss_ of internal
rotation initially. There can be an as~ociated synovitis. The history is too short
for oligoarticular juvenile idiop~thic~ar!hriti~ (6,weeks beipg necessary for the
UJ diagn,osis) and the hip is almost never affected if.'ith this: The patient is
.·
144
-. ......
~
l - ._L ... -
(
Multiple Choice Questions
. -~.: < · •. \ it.'l.rA'· .:. , ~ -~--:-··\ • . _ , ,- · '
1
-- 145
: ·.... · ''.?';
·:..: : ·,:;~-
:
~~. ·. . ' :~;/:: .:~--
ESSENTIA_ QUESTIOI\IS FOR i1RCPCH
~~
0 ...
·:~·
4. A new asthma irihaler is tested ag~inst a standard inhaler within
·a double-blind ttossover trial. With this study design
0 A neither the "patient nor the assessor knows which treatme'nt (standard
or new) is being given at any time
·- 0 B any differen2es found between the new and standard inhaler must be
~~rn~ro · · .
0 c the order of treatments (new and standard) should be randomised
0 D fewer patients will be needed than if a parallel trial of new versus
standard inhalers had been used
0 E the outcome must be normally distributed
5. Observational studies
0 A cannot be randomi~ed
0 B give in ore convin~ing.~'idence of true differences than experimental
studies ' ·' " · · · '. · ·
0 C are always large
0 D can never be useful
0 E must be blinded
6. The following is true when age-matched and sex-matched pairs
of patients are allocated to new or standard treatments
0 A age and S~X c~mnotconfound the study results
0 B ran,domisat;ion to th:e new or standard treatment should take place
within pair_s ,
0 c the treatmen~ allocations must be blinded
0 D the pairing should be retained in the analysis
0 E di~se severity will be similar between the treatment groups
7. The following are categoric variables
0 A height ' I
.0 B sodalclass
0 cage
0 D gender
0 E ethnicity
... '
146
--~·-.!..
:I
STATiSTICS.
I
l
I
II
I
v li .t
11. The standard error of an estimate !'·:_,. l "t! ") (
·0 ·
is true '
,.
E" indicates the clinical significance of any differences seen iD the sample(s)
.
13. A parametric
0
. ' . .
correlation
A must be positive
~ -
coefficient
. ~. . .. , · . .. , ,
·~ .
,
,. 148
, STATISTICS
149
ESSENTiAL QUESTIONS FOR f1RCPCH
-J
Best ·of Five Questions
' Jt•: • ··~ "-;~ /,.:_.; ....... ..:·.··' .. ~·~·:.- .. •·'1''1:';•:;..1 "'~-~ -._. '~ ' . . ,. f
·-
levels'are found to be severely depleted (p < 0.0001). Which is
the MO'ST appropriate course of action based on this 'study?
0 A_ Introduce vitamin Dsupplementation as standard practice · ·
0 B Consider extent of depletion, clinical implications, costs of
1 , , supplem~ntation and make a decision basea on these
0 ·c Re:analyse the data ·taking into account the ages ofthe 'children'
0 D Carry out a further.:study of greater size . • ' ·' • ·
0 E Do nyt.hing, · ' · ' ·
' '
23. Cirrhotic children aged 6-10 years old are randomised to a new
die~ ~e~!men er,.s~andard :advice. Afte~ 2 y~ars their l\eight ..
. standard·deviation (sd) scores are compared. The group allocated
to the new diet have a higher t;nean sd score for height
(difference.0.2, 95% confidence interval (-0.8, 1.2)) but this
difference is non-significant (p 0;52). An improvement of 0.2 =
sd scores over a 2-year period would be considered clinically
important in this group of children. Which is the MOST
<" • ' ' . . ' • • • . .
appropriate course of action based on this stUdy?
' '
0 A Do nothing further- the study has shown the new diet is riot
statistically significantly better than current practice ·
0 B Re-analyse the data using non-parametric' methods
0 C Follow the children for longer to try and obtain statistical as wei! as
clinical significance
0 D .Carry out a trial of a larger size to obtain a more precise estiiT!ate of
the effect ofthe new diet compared to standard .. .. ·
0 E Introduce the new diet as standard practice- the average' ;
improvement is clinically important . · ' . · . -· .
ISO
STATISTICS
25. What is the BEST re~son why co11current control groups are
.c
0
useful when performing studies?
A They allow the use of statistical tests for the comparison of two groups
(eg two sample Hests) '- · · :·
.c
0
,(I)
B They help to ensure that any differences seen are due to the treatment
or disease being studied · ··
···u,
O c They allow the study to be blinded t!t-
0 D They help boost the overall numbers studied
0 E They are better than historical con trois
'0
26. Which of the following applies MOST to a· reference range for ~;::J
CD4 counts in childhood? · ·' .. (1)
O A The study should be based on large numbers 6f children
0 B The study needs to be age-related ·'
0 c It is useful for assessing children \Vith known disease
0 D ·It allows the CD4 counts of individual children tc be compared to what
' ·is expected for normal children of that age .
0 E It does not give the sensitivity oflow CD4 count in detecting disease
' '
27. ·Intelligence (IQ) assessments. and heights are measured in a
, " group of healthy 7 ·year-olds. To investigate w.h~ther, there is a
meaningful statistically significant relationship which .of the
foHowing is MOST.appropriate?. ·
0 A The correlation coefficient should be calculated
0 B A regression analysis should be used and the regression coeftlcient
presented with confidence interval
0 c Ap value must be obtained
0 D More assessments could be made
0 E Heights should be ex-pressed as sd (standard deviation):scores
IH
ESSENTIAL QUESTIONS FQR,MRC~CH
' ·~' ~ .. I . . ; .
i-1 Chi-square
For each of the fo!lowiryg stvdy scenqrios c~oose,t[le most appropriate .
statistical test from the Jist above ~oan~Jyse the data, Each option may be used
once, more than once, or no~ at alL . · .
.· 0' '1 . Blood pres~ure f!leasu.r,e~en ts 'ar.e mfde in.~ grbup,~f children .with
' pit)Jitary hor'mone' di:SOrditrs'a~d.age~ and :Sex-matChed control pairs.
· •· · · The s:udy ai~s to investigate whether,~i.tuit~;Y·h~~!:r,lo~; diso:~e~s. a.re
associated w1th altered blood pressure. ·r . ·
0 2. ~evelopmental tes~ are applied to determine whether children who
' were admitted to intensive .dire ih the neonatal period are more likely
to have delayed.development at age 5. than those:who were not.
0 3 .. Blood pressures (assumed normally distributed) are compared between
· 5-year-olds from four different clearly defined racial backgrounds·
152
I
I
_L
STATISTICS
rash) scale. Ail average fall of2 points on the severity scale attributable. to the
new cream would be deemed ofclinical importance and worth changing io the
new cream to achieve. For the following study results choose the mosh
appropriate interpretation from the Jist above. Each option may be used once,
more than once, or not at all. ·
0 I. Those allocated to the new cream have ah average rating of 5:4 '· •
0
compared with 7.8 for 'those on the current aJterm3tive (95% .
confidence inten!al for the difference (-3.6, -1.2), p < 0.0005) ..
. 2. Those allocated to th_e new cream have an average rating of 5.4.
. compared with 7.8 for those on the current alternative (95%
-·0
0
confidence interval for the. difference (-6.0, 1.2), p = 0.23).
3. Of the 40 children allocated to the two creams, 30 who used the new
:I
C/)
.cream had an !'IV~rage severity ;ating of 5;·4. The 50 children wh? used .
. the Ctif!:en~> tre~tl!lent (40 randomised to t~is ~!ea,tme!lt plus the 10 who ,
.did not use t~e· new cream but reverted ~tp'"cur;reri_t). h~~ an average rating
. of 7.8. The'95% confidence interval for the mean fall in severity·rating .
(-2.4) was (-i6, -1.2). p < 0.0005.
' \, ,% •r f'' •
153
I,
;}
1. Randomisati_on t«;~ ~reatments in a trial· , ·
AnS\\'t'f:'B ·1 • . ,. •· • · : "'~· • • , •
. '1 '
2. Allocation of patients to treatments
Ansu·ers: ABE ·~ •; ·~
. .. •"')
Allocation to treatments should be random rather. than systematic to avoid
\ ~
.J
potential bias. Ideally randomisation should be made via telephone. so. that 1 ,
the process cannot be influenced by any known features of the patient. .
Consent should be obtained before treatment group is determined othenyise
the approach taken to gaining consent (and/or the patient's ded~io1_1 to
consent or not) may be affected by the planned allocation. lfthe patient
and/or the clinician (or assessor) know which treatment a 'patient is having.
then this may influence their recorded outcome. A study is blind Wh<7n~ither 1
the patient and/or the clinician (assessor) does not know the treatment·
a!location. Single blind is the term used when· one of the two (patient or
clinlciarVassessor) 'does not kitow tfie' aliocatra·n but'the other ooeS:"bouole-
blind means that neither knows about it.·· '
154
l
difference found with an experimental design is more likely to result from th_e
treat~ent than 1; is in an oJ;>servational sq.ldy. Despite the potential for.C '
confounding, observational studies can provide useful information;;, .. ; ,;,
Interpretation ofthe resultS should.take into account the iimitations of the •
desigQ,. , " .• , •. ', " . . . · • ·. ·,. · ~ ~··. , •
6 .. Age~matched cind'~ex-'inatched pairs
1'' '. "f • ' 4 "' ,. ~ " -1 .• '..- '·.
7. categoric variables. • .
Answers: B DE
· Data may be either categoric or numeric. With categoric variables, each
indi\'iduallies in one category. Numeric data are measured on a number scale.
Height and age are both numeric. Social class falls into one of five or six
categories depending on how it is defined. Gender is only either male or · •
female (one of two categories) and ethnicity may be divided into a variable
number of categories.· ·
•'
8. Ranked data, , ' I.
AnS\\'ers.: A B C ·. ·
Ranks give the order ofincreasing magnitudeof numeric variables.' The. .
lowest value has rank I. The highest value will have a rank equal to the total
number in the sample (if there are I 0 values, then the ranks I to I 0 will be ,
assigned and the largest value will have rank I 0). Half of the value~ will be c..
smaller than the middle ranked value and half will be larger, hence the
middle-ranked value is the median (50th centile): If the data are skew then the
mean and median will be different, and because the median is always the
middle-ranked value the mean will not be equal to ~he middle-ranked value if
the data are skew .. Equal data values should be given equal ranks. To achieve
.· this, the corresponding ranks will be averaged between the data values. Each
value in the dataset should be given a rank. Data values that are the same do
not need to {should not) be removed from the sample prior to ranking.•
tl56
STATISTICS
12. p value
Answers: A D _,
The p value is the probabilitv of obtaining the current sample if the null . ,
hypothesis were 'true. u giy~s ~measure of ~he.sta~istical significance of any
differences seen. As it is a probability it can range from o (no probability/never
happeris)•to I (certainty/always happens) but cannot be negative. The p value
gives an indication ofliow likely one particular hypothesised value is to be
true, whereas the confidence interiral_gives the. range ofhypothesised values
157
~SSENTIAL QUESTIONS FOR MRCPCH
F· ~ ( .• • ~ ~.) \•- ~ •
\Vith which the sample is compatible. Hence confidence imervals give much
more informi'!tion ·and enable dinical interpretation or' the'results. The pyalue
gives statistical significance. but clinical significance will depend on other
factors such as inconvenience associated With treatment level of J·
improvement, or difference and costs. ' · ··
~
.. ·.·.•··.
.-;,·,
. -:
13 •. , ~rametric correlation coefficient
tn•• •.>.:~"'-Anslver.:D . ~'/f ~- · .;-~ -~ q . _,
(Spearman or Kendall) measure the tendency for one variable.to fall or rise as
the other increases -.whether this tendency is linear or not. All cor.relation
coefficients cim take value~ ~et\-veen-1 and·+ 1. Neg<!-tive values indic~te that
1
as one of the variables increases the other decreases. A value of 1 indicates a
perfect positive relationship, and if the correlation coeffiCient is'pa,rametric.
then this would mean that the points lie on a straight line ·(howeyer thy lin<;is
not necessarily the line of eq·Jality). A Pearson correlation coefficient of zero
(0) indicates that there is no linear association bet\'.'een the variables,
although there may still be a non·-linear one: ' · • •
• . Answers; A C r •
I 158'
STATISTICS.
bet\veen weight and ll!ng function may be due,to some oth~rfactorthai may
be caus~lly related to IJ.!rigfunctiof1 1and whkh acts as..a confo!.!,t:~det For:
example, if the children from lower social classes tend to.be.heavier/an!:lilow
social class'adversely ii1rluences lung function (maybe due"to a genetic • . .
component or behaVioural faCtors) then indeed social class will be a.
confounder in the· comparison: To study the relationshipbetween weigh rand .
lung function among asthmatic children, a 'Selection of asthmatic cnildren' .
with differing weights ':!!lly1is ,required and ;a filrther. comP,aris2n.groupjs'not
necessary.• . ,, . : ,, ,·· ; ,,
.\ ~ ~ ...: ~' · , . .. · r . :..., · ·· , · V' ...• . _
16 .. Preva~~nc:e,-d~pendent statistics . . ,; ·~ , ,,
.; Answers: D £, ,. ' •, , ,. ' , . ,• • . , ::
The pre· ·alence bf a EI¥ase is the proportion of the p<:>ptilation wi ttl ·the' • ' :_~,A •
1
Yes : 25 . ·.• 70
No 30
.Totat. 500
159
ES~ENTIAL QUESTIONS FOR MRC?CH
The specificity is the proportion of those without diseage Who screen' . '• •
. negatively, thus 400/445 (A is false). The positive predictive value is the·"'
proportion of those who screen positive !Vho actually have disease (25/70).
The sensitivity of the test is the proportion of those with DoV..rn syndrome who
test positiVe (25/55). Of the 70 fetuses with measurements in the'upper decile,
most (45) do not have Down syndrome.The s.tudy gives .no information about
the relationship between age ard DO~'ll syndrome. ., , ·· '· ,
'.;. • t • • ; I .,,.. 0 ·• • '· Y, \. ' ~ ' .;£1~ ~- • "t _; ·'t., ; ! ""':c l·~ '~ '
18. Treatment
··~· '
for, blood.
• -
pressure
li'·.\· .....•;· . • 'f . + :· ;t;l::l '~ , / '• .,· ;:"'1~-.- !·~"1" {''
,.AnStver:·£ .• , ... . ·;. '·' ·r .•.•to..;,, ......
Th~ difference observed is statistically significant'and would.have:cict:Urred by~';
chance Himes in 100 (since o:021 or I timeiriSO if there really were no p.=
treatment effect. We cannot tell from the information:given whether or not<' . • •·
randomisation was successfuL The sample is Compatible with average fall in ·
blood pressure of betWeen 4.16 and 7~84.mmHg. We are 95% confident'that the
population average fa:lllieswithili this interval. however it may not.(in fad; 5%
of the time it will not). Statistical significance does not necessarily imply " · ·t
dinical significance or relevance. The 1-test is not valid if the measurementS J:;. .. "
are not normally distributed. Skew data are not normally distributed; ' '•' I . ' '·"
•' ! .t ~ • '· \ ':• •t .. • • l· ".,.f \
AnS\\'ers: B C DE --
The power o(a·study·is the probability {usually expressed as a·percehtage}'of.
correctly rejecting the null hypothesis when it is false.'As it is a probabilit}lit
must lie bet\veen 0 and I (or 0 and 100% when expressed as percentage). The
sTATisTics
greater the difference to be detected, the greater the chance that the study will
find it; hence the power is larger for bigger differences. The larger the sample·
size. the greater the power to detect a difference of a given size. Power is
usually calculated at the commencement of a study. Sample size is often
based on achieving a given power to detect differences of clinically important
.magnitude. Sample size estimation is based on unknown quantities and the
estimations of power may be made once those quantities have been
determined from the ~ample data: Hence power may be calculated
retrospectively.
161
:I
(ll·"~'
,ESSENTIA:. QUESTIONS ;:c::, MRCPCH
162
__ l
.• STATISTICS,
----------------~--------------~~-----
161
28. SIGNIFICANCE TESTS. I l }
164
-. STATISTICS
Total 80 400
165
; ...... ,, .
. · .. ·:.,·
··· .. •,
~ ··.
t ESSENTIAL QUESTIONS FOR MRCPCH
?' .--
1. I - Percentage correctly classified
Equal -numbers of those that miscarry have 'abnormai or normal. mkhal fold d
Total 80 400
'"'+ • 'f . . . . "1 i ;· " ,( i
..
-<
.
\ ' '
· ...
The prevale~c.e of mis~arriage is 80/400 = ~99(,. · ;'
I '
... \ ~ . ' ' \
f. ' •
' .'~
166
STATISTICS
3. A- Sensitivity . J
. Of those with abnormal nu~hal foJcfthidcnesses: ~o ~l;!!>sequently miscany.
S<?, the information given is: ..
- ' . ..
- - Miscarriage ·
~ ··~
·Total
.. . .
No •
~
I
I
I
!
\
·'
..-,
This Index covers Volume I and Volume IL .The volumes are i!ldi,cated
roman numerals, 1 and
,/~ I
n: .. •
,['.
:: ,
-abdominal. ·.'- · 'of" •,. •b ' ';·;. acute myeloid leukaemia (AMLl t: 150, 15~ ,
mass 1:97,tl iS.' 154 '• · S • · acute post-streptococcal glomerulonephritis.
pain J:l 110, 112. 115. lB. I (1.1:7) e·.· (1I:57, 65. 69f 77 . .78]· ~-. _ .,. . ,:'.·___ ,'(
wall det.::ct5 1:104·; ·~ · · "' · acylcarnitine plasma level(u:34l'
abducens nerve t:49(n:94. 104,1 fl j' Addison's disease t88(t!:59, 72) .
abetalipoproteinaemia 1: l25(U:l 16. I 83:106) adenoidal.voice (td28, 134, 136, 1401·.
ABO blood groups. 149,156, 158 [:::1 48,-42, adenoids (u:l28) ' ·.,,
45, 52, 55] . · •>,) adenosine (intravenous)..I: 10. 20, 21 .
ABO incompatibility ]n:42] -.~ ... • ' adenotonsillar hypertrophy (n:i28].·~ , , ,
abscess formation in orbital cellulftis·(n!I08} · aden0\1rus infection [II: I, 4, 1 I, 48, .1 03, IIO)n
absence seizures [u:87, 96]' . :· ·'{,· · · · · adoption 1:95. 101 ' , .,, · · .,
1
absent septum pe!lucidum 1:81• ·,•i "".. =.- •· ••. , adrenal gland 1:74,86,90 . ,... , ,a
acanthocytest:l25! ' ' · ·' • 1 :<· hyperplasial:73.75,83,85:87 .t·
acetazolamide (n:94) • ·• • • ' hypoplasia 1:83 · , •
acetoacetate t:76 ·' ' ·. , • adrenaline (epinephrine) (u:2,.12, 114,.1 17,
acetylcholine(i1:93;9sj•. ·•·.• .n~,· ''· ·' 1
. 125; 128) • , : ~ ..•••·.
Achillestendon(n:l38l''t, ,. •.f 'adrenalzoriagloinerulo5al:7{86 ._,
achondroplasia li73, 8<1;"128, 138;i 39, 144 adrenergic receptors (11:114, 125)., , •··' i
aciclovir therapy !:67, 178, 180 (u:J 91 yr ·•' adrenocorticotrophic hormone (AciHl 1: n.
acidaemia (n:21 23, 28, 29, 32, 123) •:,.:. · ~ · 174, 81;83-84, 86, &a,'S9, 90 (11:96) · ·
acid-fast bacilli in tuberculosis {ii:l i9r'') <>' adrenoleukodystrophy (n:28, 32] .
aciduria 1:99 [II: 8, 19, 29, 30,:34,· 122: 125) ·' adverse events in clinical studies (u: 1_49, 161]
acitretin !:66
acne t55, 65
,! .
•
:•' ~···"'· i '•' ..•. '
•:"'" · •1 '' •· '· ··'
afebrile seizures (11:24, 93)
age of majority 1:95, ]01. 102 ••
" .•
": .
.·
acoustic neuroma 1:138 H • ·· v: }<>' .. 1
aggressive behavioun2ti. . . ,•
acquired epileptic aphasia 1:96-:97 "i· airway'6bstructioi1Jn:ll·( '1 18, 123,;1'2&.
acquired hypothyroidism1~88 -::· '" . ·+ . ----12'9; 1.30) , :· l'~ , ..
1
acrocentric chrombsomes 1:1 39; 145 ·· : : alanine aminotransferase 111:8, 9. 68)
acrodertnatitis enteropathica 'i:53, 62, 6s · · ·'" albinism (occulocutaneous) 1:61 · '
acromegaly 1:82 ·' i ' · albumin · ·· ·· · · · · ,
acropustulosis (infantile) 1:60. 70' blood !evei(J!:S 1. 6~. 68, 69, 78) • ,, ,
activated charcoal•:441 s! drug binding' M3. so, ? r' · •h . . •
activated partial thrombOplastin tiine tAP'fn'" alcohol consumption 1: II, 24, 31 (11:39.' 49] . •
1:149. 158, 162-163(n:-8; 9;3s. 43~48; · aldosterone 1:78,86, 89.90 (11:72; 77) , · ·
.53, 1531 , , , . · '! ~ •t' · •· alkaline phosphatfse (u:q6) · :'~, . ;
acute disseminated encephalomyelitis · allergic bronchopulmonary aspergillosis ... •'·
(A0£.~1) (n:82 90;91] ,J:. '" V ll.; (ABPA) (H:126. 131] .. . . . ...
acute intermittent porphyria (11:28( ' •·· "'' allogeneic bOne-marrow transplantation
acute lymphoblastic ' ~ ~ . • ,., 1: J 4 7 . , ., , 1
leukaemia 1:ISO, 159(n:l38, 1441 ··' allopurinol therapy 1:160 ·
lympboma 1:154, 164 (n:J 43) '''' · •t. · ' . :;··.alopecia 1:53, 551 61, 64 [it93) "~ , ·,
acute lymphocytic leukaemia (11:20; >f· ·· < a-fetoprotein IAFP) 1:95, 103, 150, 160
\'
169
, ~SSENTIAL QUESTIONS Fc;::>R MRCPCH
'·
antepartum haemorrhage [n:39, 49)
anterior uveitis (u: 106) . ,
anthryKYcline cardiotoxicily 1: !50
, il
I
anaphylaxis 1:124. 174 [u:l28; 142) anti-Roantibodies 1:11, IS·
Andersen syndrome (11:92) . • anti-RSV antibody (paliviZU!Ylilb} [n: 127)
androgenisation 1:88 anti-Sm antibodies [II: 141) -·· .
androgen · antispasmodics [11:2)
production 1:74,81, 85, 86,90 antistrepsolysin o test [n: 142]
sensitivitv 1:99. 129, l4Q-141 (1!:47) antithrombin I (n:69J.
\ androstene'dione production 1:86 antithyroid therapy 1:82-83
I
\ 170
.. ,
I
-<-·- _, _ _ _.,. .... ,
:j""' <t ~J
,.., _ .......
_..
,.~,.··,:'"' ~
·- .....
1'
INDEX
:~ .?.~·· ' . ~.
.._# ~~·:'··~~-";r-"•\.
. : .. ..
~~ I·
1..
at-antitrypsin deficiency 1:i 19, 124(n:48] astrocytoma 1:159 [n:89], ·' ·· ·' '' · •
aonic.~ d' ' . +.... • -.. " 1' 1 'atax'ial:"i8,3s,:Iso.·I54,160;I64[n:83,93]
arch. interrupted 1:14;20'· · • ·I'· 11 atopy,,;I62 [n:IOI)~-~ _, • .f;'t • .-,_,
dissection 1:85 ,:!!· ' "'· 1 - .. , • '· ,,,,: atrial'''·' . · • .. ,_ : .J•''' ·; ··
rootdilatation[n:29)' .. · ·, .... hypertrophy1:12 '· ,.,. ·" ,:~-·-
' 1 ,stenosi~ I: II< 14,\1'9: 20, 1!9·_-14.1 -~-.'',if isomerism 1:3. 13,.14 ;, : ' .i ,! 1 ,., ...
val\·e (biCuspid) 1:4. 16 • · · ' · septal defect 1:9, 19,20 · • • · ,;_,.,·A
aphasia 1:28 [n:84, 96-97) '· · '" :~, 'c.n atrioventricular septal defect (ASI:l) 1:1; 2;'11,
aphthousmou,hulcersl:411ct "'·:a_· ; 12. 19,132,143 ,_, ·<~ .-i -•
atientiondelici~ ~; ·. i;. · ·• ·~
1
apnoea [11:45.•48 .. 67: ·84, 93, 96; 117. 127) ·_ · "•
apoptosisJ:I69. 177 .- ' disordersi:I4I, 175 .;.·c
appendicitis 1:94. 99-100, 105. I 06 ,.,, hyperactivity disorder (ADHD) 1:24:31 ;·34
appetite 1:85, 90 (II: I24F;" · '' · ' 4 · ·- ' 11 · atypical tuberculosis,(n:4) ; ~" . ' ..j._j, !
apraxia (11:84] ,, ·.. ·, ·' "_.,., ~ura (heac!aches) [11:95).· ,,, ~.-•.• :• '·' ·•
Apt'stest(n:53) ·--· •..·;·.,!;;1 auscultation1:ll .r· ·-,~-.-· ,,,,1u
arachnooctyly 1:8S . .,, :· · · · ·""11 autistic spectrum.disorden25, 26, 32, 34, "'•
,,arginineGcliciencyl<72 [11:30) '' .,. "~•'' 36. 175 [11:81, 91] •t. .<.·· · "·' _, '"·'
·arrhythmia 1:20. 21. 32, 83[11:87) ·' 1 autoimmune ha~molytic anaemia (AJHA)"
arterial ;.-. ., __ ,._,,,.n 1:148,148.156, ·!''-~..;:· .; · ;~·
aneurysm 1:15 (11:141: '142] · " · '' ·• autologous bone-marrow transplantation• •·
circulation 1:167 ': · \ u, ' ·'"" 1:156 ..J!S•• !.
duct 1:1. 2. 1 I, 12 , \<, .-,,_ ·~ autosomal dominant inheritance 1:128 [11:60,
S\\;tch operation 1:2.~12 :,? ''" .-"- ., 82] . ' ' .J- .• .
thrombosis 1:14 -'· '--'' ' n: autosomal recessive inheritance [11:37, 59;'.
aJ1eriovenous malformaiion [11:92) · ; '"'"'' ·y· .82, )00) -· : · ·• • · ·
artery occlusion [11:84, 94) avascul<!r necrosis [11: 144] ' ,.t .·
arthralgia [11:19. 135, '142]' < ·.. ~,.,!' azathioprine 1:12(?.• .•·• ···-'' ···"' 'f'. ·,
arthritisJ:l29, !40, 175 [11:76) •· ••· :i'l· "' azoospermia ~:84. 85 [11:115) ·· •. :t••-,:-·. "''
enthesitis-related [11:138,143, 144] • 1 ' AZr(zidovudine) therapy1:111 [11:22,'31)'-'.;· '
flitting [11: 141) -~ endocarditis [11: 123] -~•. .,_
non-erosive 1: II 1. 120 [II: 140] ·r • osteomyelitis 1:9. 20
OSteoarthritiS1:123 overgrowth-1:109,118 _,,,
psoriatic 1:67 [11:99. 134, 136, 140, 1143] ' sepsis [11:48] . ~t~ ' ' ·..
reactive [11:144] ._. •.: -' • ·, · · " bacteruria ~:99, .... i •. ...
171
ESSE!;J"'[IJ. _ QUESTIONS ::oR MRCPCH
Bell's palsy t\11 cranial nerve) {:1:19, 60, 63, pressure (II: 1o, 62. 63, 64; 65, 66, 681 see
76, 94. 109. Ill) . also hypertension
benign intracranial hypertension,Iu:84, 94) 'in clinical studies [11:149, 152, 160, 164)
benzyll;>enzoate ther!IPY 1:58; 6!!: I 78 maternal 1:73, S3 ·
benzylpeniCillin 1:43. 47;50, 51. 53{11:55) raised (11:71, 125, 128!
betaine (n:291 sampling t:148, 156111:281
betametasone [n:47J transfusion 1:148, 149,'149. 156, 158, 174
beta-blocker toxicity t:49 Bloom syndrome r:57, 59, 62. ·68. 69
beta-defensins 1:177 BM stick. (n: I 7J
beta-thalassaemia {11: 107) Bock.dalek type diaphragmatic hernia [11:4 7]
Betnovate therapy t:64. 65, 67 ' body mass index (defined) 1:1 13
bias (statisticah [n: 145, 154, 155. 165] bone · ,
bicarbonate blood le\•el ' ·· .age ~:79.
· infectious diseases (n:8J ""' destruction (n: 123]
metabolic acidosis [11:241 disease of prematurity 1:84
renal disease (n:58. 64. 66, 67, 6B. 70, 71) marrow aspiration 1:155
urine le\'el [;!: i' I J · marrOW blastS (It: 138)
bicuspid-aortic valve 1:4, 16 · marrow transplantation 1:32, 147. 156, 175
bilateral lens dislocation 1:131 (11:18. 29. 129)
bile acid synthesis'[il::i'3, 32) mass. peak r: 73, 84
bile duct obstruction 1:.122 ·metabolism 1:73; 73, 84 ·
bile salts 1: II 0 pain !:164, 165!11:20)
biliary resorption (11:74) '
atresia (11:481 · •. bony dysplasia (11:81, 89)
cirrhosis[:;: 113. 123) boot -shaped heart 1: 18
fibrosis 1: 12 2 Bcrrelia burgdoiferiinfection see Lyme
bilirubin 1:45. 48. 51. 118(11: 10. 42, 44, 52. · disease \; '·
. . , 63) see also h};perbilirubinaemia • BOtulism, infantilt(11:85. 95]
b1oUmdase deficiency (u:28J · · boVine spongifornf encephalopathy (BSE)
birth depression (11'50] · 1:177
birthmark,s !:54-55,!,64 bowel
bladder disorders 1:99. 103 abnormality 1: I Q4 ·
Blalock.-Taussig shunt 1:2, 4, {1. 13. 16. 18 inflammation 1:124
I
Blaschk.o's lines 1:60, 142 · • wall lesions r: I I I
bleeding diathesis 1: ISO brachial plexus inJury (It: SO]
bleeding disorders ~-:153. 158~ 163 (n~53J bradycardia t:32[u:'<.l, 11, 20, 45)
bleeding time 1: 153.n 63 ' brain
blinded clinical studies (II: 146. 154, 155) biopsy (u:97)
blind loop syndrome (bacterial overgrowthi ' dysgenesis 1:35
1:109, 118 (11:109) . hainatoma (11:90] . .
blistering disorders 1:59--60,-62; 69 ·''·; ·' ·•· tumolirsd5g..:l59 (1~:82, 128)
blood-brain barrier 1:40,45,46. 51. (li:J40) branched"chainamino adds (u:34J-
blood · branched-chain fatty acids (11:32) ..
clotting disorders 1:139 (11: 18] branching enzyme deficiency {GSD IV) (11:24,
clotting fa.:: tors 1:149. 153, ISS, 163 32) . ;"''
coagulation U49. 153. 158, 162, 163, J 78 · breast
coagulation \'alues 1:153 · canc::err:l34.·134, 144
coagulopathy {u:35J development 1:8!, 88 .
I culture 1:161 (11:100) \
gas analysis {u:l7, 18, ,19.--24~ 128)" ~~ d
feeding 1:169. 178 (n:I.S, 22. 30, 33. 48, 52,
53)
group compatibility (n:42) 5e1: also ABO milk. (n:40. 52) . .
\ blood groups ·. · breathlessness 1:6, 9, 16. 17 [11: 11. i 21 1
I
in urine s:-e haematuria . breath testing 1: I 16, 1 18, 125
pH (n:8, 24. 64, 66. 67, 68) see alsi:J British Thoracic Society asthma guidelines
meta:.olic Scidosis; met.a~lic (11:131)
.alk.alo.sis "., broad spectrum antibiotics 1:161 (11:55]
I 172
; 'l
!
- ----~ --· _j
INDEX
bronchopulmonary dysplasia 'ill: 1'2 71 · ·' cardiomyopathy 1:11: 15 [n:32, 54;59, 81)'·
bronchoscopy (n:'J2(}.-J21-. '1291 q · · • cardiotoxicity {anthracycline)·i:lSd 11, • '
Brown'ssyndrome·[II:J04;Hll · /"' cardiovascular surgery 1:1, 2. 11; 12,·16,
brucellosis (Brucel/d infection) [u·:201' 17, 18 :· l ·' c' -",'. '· ..
bruising 1:157; 163 l11:8,'27, 43, 48;<~31' cardioversion 1:!2 1' · o •' : ' · -t~--· ' ":
budesonide [11:2, 121 · ,. '· • carditis(n:I9, 1421 • ' --·• '·... ·•
bulbar function (11:1291 ' r, -rv":!_, Care Order (Children-Act\ 1:29.''36'
bulimea ·:33 · ·PC ., carnitine therapy [n:291
Caesaria.1 section [11:15; 47] w· carotid artery occlusion [11:941 '·· •· · · • ·:
ca'fe-au-lait patches 1:87, 128, 133:' 138, 142. carotid sinus rri?lssage 1·:20. 21· · • ~
143, 144 (11:891 carriers, genetic disorders r: 131, 136, 131,
caffeine 1:48 · ·· ·· •'• l43 [11:33, 117,1281 ' j
calcification 1:14 [11:90, 93J-'"'- -" ' cascade streening; cystic fibrosis 1:137 ··- '' ·
caldtrioll:84 A> " ·• caspases 1:177 ' ·
calcium absorption i: 1r9' ·' r ·:c' d_.l' • cataracts 1':s1: 68;-88 [li:7,18, 34, 35, 54;·HXl}
calcium levels 1:i4. 080, 159[11:63.' 66;·161 congenilal t:I3Hn:7B; 107} · • ' • •
"· 111;~10. 93isee also- hypercalCaemia/ ' · neonat-al [ir:661' ,. . . .. 1•. . ' _l
c
173
ESS.ENTIAL·QUESTIONS-FOR MRCPCH --
•.-,1. ~. 1
swelling [u:9i] • chorior'iic \1llus sampling'l~;"l43 '
cerebroside [11:29] ·""" ... , ; · ''" : .•.;;.,•t . choroid abnormalities (11:1 06, 107}
cerebrospinal fl~Jd (CSF) i:l80 [n:IS, ,!!1:.9Q. chromatin condensation 1: 177 '
94. 108] .. f\' ••. chromium-labelled EDTA (11:751.
chalazion (Meibomian cyst) [11:104,,111] 'chromosomal sex 1:89•. 135 .
chaotic hypsarrhythmia [11:87] -. , . chromosome
CHARGE aSsociation [u:S4] •. · .. , analysis 1:1 so
Chediak-Higashi disease 1:61 [II: I 06] defects r: 129 .
chemotherapy 1:85, I 50, 159 [n: 18} see also chromosome 11,1:138,
specific drugs ; .• · chromosome 12,1:139
MMR vaccination 1:32 chromosome 15,1:138 . -
sideefrects 1:151. 160,.161 chromosOme 16(il:i2. 90)
in varicella patients 1: 170; 118; . chromosome 18(11:39, 44. 49 •. 54, !07),
cherry red spot [n:~S. 34] . ,,:') chromosome 20, 1: 145 . ·
chest · .. . ... . . -·t -• , , chromosome 21. r:l39.140, 143
hyperinflation [n:I)!J,.I27.'13.1) ·., .•. , [11:46. 124] • . ' ..
movements·cbreathing) [11:128] , , chromosome 22, 1: 14. 129, 140, I ; 2.
pain [u:7, 95. IQ3,•118J. •. 180 [t1:54} . -
X-ray [u:42. 120. 121) . . , chromosome 5, 1: 140
ctie)'nes-:-Stokes respiration.s [11:951 chromosome 6,-1:138lt1:59) ,
.chickenpox see \'aricella ., chromosome'7,tl4. 138, 145[1i:J76)
Child'Assessment Order 1:29. 36-=-37 .., chromosome9.[n:89.-901 ""'"' ··tt : .
c:hiid development, psychiatry and· __chromosome Xp21 [u:91L , - .• . • ,
community medicine t:?J.-.29. chronic bullous disease of childhood 1: ·:9,
3Q-37 . > . 59-60.69 . . . •. . . . .
child protection.1:29. 36-37 chroni_c fatig-,le syndrome 1:27. 35, 8.8-t ~
Children Ac(1:36-3 7, [u: 129] . . , chronic granulomatous disease-1: 180 .
chi-square test (statistics) li!: 149. 152. 160;- chroniC:paro:~;ysinal hemicrania .(n:95] , 1
- •> ,164} ,, , . e I .chylo~icronsl:ll9, 12§, .. ; . · ,. ,
Chlamydia infection [11:18, 45, ss: 101~ 108, cicatrix formation 1:105
110, liii "" . . ' - ciliary beat frequencyin:l27) ••
chloramphenicoll:40,43, 45, 48, so ciliary.brushing [11:129]
chloride · · · . '· . .., • cimetidine ingestion 1:100 ,
diarrhoea [ti: 771 • .• · • ciprofh:ixacin therapy 1(179 [u: t'5J.
neonatal disease [11:39. 50] , , c~rculat~t?' collap;;e (11:!,71. , .
renal disease [n:59. 64, 66,.·73.77, 781 c1rcumos1on 1:97. 97. 105, 106 ••
respiratory disorders (n:i26, 128), i~ cirrhosis in clinical stu'dies' (u: 150. 162).
chloridorrhoea (n:28J -, ·1 ·, : , • cisapl-ide 1:15 , ' " · · · · ·•
chlorpromazine hypersensitivity 1:119 __ .. clarithromypn therapy 1:179.
. choanae atresia In CHARGE associiition·;- classical migraine (11:86)
. (11:54) . ·. . ... cleft lip(1i:44. 54)
choledochal cyst (u:48) cleft palate 1: 14 (11:44, 54) •. ,
cholelithiasis 1: 122, 123 climbing ability [u:85J •. , , . .
cholera 1:30 [n:I4J . clinical governance 1:93-97. 98-107, •. •
cholestasis 1: 122(11:481 clinical pharmacology ~cf- .to'EiCQlogy
cholesterol ,1:39-46. 4 7-52 ; \. -
binding resins [n:31) •• , clinical rele\·cmce of clinical studies (u: 16 I..
le\·els 1:125 [!1:23, 28, 31, 32, 69, 73] see . 165) . . . ..
also hyperch?lesterolaemia clinical trial allocation ofgroups[u:t4.5, 1£4.
hn>ercholesterolaemia 1:25, 33 [n:32) 159}
lowering margarine [11:23, 31) .. , .. clinodactyly ::55 [u:54] • .
metabolism 1:116, 125 (11::23. 31-32) clonidine pro·:ocation test 1:12, 82
svnthesis [11:32, 33) ; · clonidine'toldcity 1:49 ·
I
chorea [n:I42J • Clostridium t::-rulinum infection [11:85, 95)
choreoathetosis [u:88, 97} see also :.Vtulism 1:2-infantile
chorioamnionitis 1:51:[11:39, 491 CLO testing ::; 25 ·
'
174
l
_[
·' - .INDEX
175
J' ~
ES~ENTI.:..L QUESTIONS FOR. MRCPCH
176
.... , ; I
- j --- .... . 1 ...... -~~ J.-
C
1'77
~
ESSENTIA.:..
' - '". '
QuESTIONS . FOR- MRCPCH
.. ·*~· .' .
dysmorphiC features 1:34, 87[11!23. 28. 31, 44;'· entero\~rus inieclion5 1:54, 63lu:l. 16)
46. 54) · '• ·enuresis (11:60) · ' ' ' .
dysostosis multiplex (n:35) ·• enzyme replacement .therapy (11:29) . ·
dyspnoea (11:117. 121)' ·eosinophilSI:9. IO.IS7(1t:20J •. ·
dysrh)1hJI1ia !:10. 10, 20....21 1 · •t :J:: •·· · ' • ·~ eplbulbar dermoid cyst[u:5'4J · . . .
dystonia (n:SS. 97] • I ·~ , " .• · 1· epidermolysis bullosa' 1:53: 55, 59. 62, 6-L 69
dystrophia myo~onica protein kinase !:137 'epilepsy : ~· . ·. · "
dyslrophin 1:136: 143, 144 (lf:91) • · ' abscence (n:S7;'96) . · · ··' . ··• · ·
ear disorders 1:25.34 (11:44, 54.' 1.41) see also benign childhood (roiandic) [u:84. 93)
heaiingimpairmeri't' : ; . ·1-·'1:{ . COmpJex partial l:ii, 35[1!:87) I , ,
Ebstein's ancimoly 1:7, II, 18 •. · · drug therap\' [u:83, 8·7. 93, 96;'105, I h1
echocardiography {ECG) 1:8, 15, 16.' 19 · • ' epilepsy syndromes Iil:87.'96-91J ~
ectopic gastric m!Jcosa 1:98 • · generalised [n:82, 96) 1 · ~ • ' •
ectropion 1:69[u:i09J • "1. •" maternall:l. 11 ·
eczema 1:59 ~· 175.'.1 78[11: 115) myoclonic (1::96]
allergic (u:l 11. 1251 ': ,,· ,. '' · noctur!lill front lobe (u:82J '· ·
atopic 1:54. 55. 56, 57, 58, 63. 64:'.65, 66.67 t' reflex anoxic 1:35
clinical studies (u:l52-153, 1~165] • ~, sub-clinical r:34
herpeticum 1oS8, 67 •· •· tonic-clonic [u:87. 961
therapy 1:55. s6; 64. 65, 66. 67 epistaxis 1:163 · • ..
~raJ infections r:54. 58, 63, 67l• .. Epstein-Barr \irus (EBVl. infection r: 167, t74,
egg allergy 1:32 (n: 115, 125) . . 175 [n:J I. 122. 142)~
Ehlers-Danlos syndrome (11:100, 107) equinovarus deformity (11:88) .
Eisenmenger syndrome 1:12 • • Erb's palsy (u:39. 50) '
elaslase 1:114, 12.2:124, 141; 181 "·· erectiledJSfun-ction 1:100.
elastic limit (lung) (u:l26) ' erythema (em:hematous lesions) (u:9J ·.
elastin gene deletion r: I 41 -. -· . Gar4ioifasc-Utar-disease·r:-14 ·· · ~ ... -- -'-- ,_
electrical status epileptus in sleep fESES) causative factors r:54 ··
(n:96-91] differential diagnosis 1:56,57,61, 62, 69
electrocardiogram (ECG) 1:4, 6, 8, 12; 15, 18, rheumatologic disease (n:I41J ' ··
19.144 (n:7. 142) erythemainfectiosumseeparvovlrusBI9''
electroencephalogram (EEG) · infection ' ·
anorexia r:32 · erythema
diagnosis r:2S, 34 (11:82, 84; 93) marginatum 1:63 [u: 142). ·
epilepsy S)ndromes (11:87/96-97) ,.,· migrans t54, 63 [n: 19)
neurodegenerative disorders (11:88) multiforme r:63, 67, 69 •
speech delay 1:28, 36 ' neonatorum 1:54, 63 .
electrol)1es. r:99. 159 (11: 17, 66) nodosum 1:54, 63, 168:175 [n: 113; 122.
electromyogram (EMG) [n:84, 85, 93;'94. 95) .129. 140) ·
electron microscopy (11:127] ·• toxic 1:63
electroretinogram (ERG) [u: 100. l 08) · · eiythroblastic leukaemia 1:1 so. 159
Embden-Meyerho( pathway 1:155 . . erythrOC)1e sedimentation rate {ESR)'I:9. 136, .j
embryology (lung} (11:1241 138. 139. 142, 144 ·
Emergency Prot!i>;!ion Order (EMO} r:29. 36 erythroderma meonatal) ·1:55. 65
I
I
INDEX
.. 179
f. ,-~f:',
·t , :\~\' ESSENTI~.:. Q:.JESTIONS FOR MRCPCH
t1:
f ,: l
·-
therapy 1:99(:::24, 39, 75, 80] , gallop rhythm [u:63, 65, 711 ·
tluorescence in-situ hybridisation (FISH) gallows traction 1:98
1:129, 129. 140.. 172. 180 gamma globulin. intravenous (MG) 1:14-15
FMRI mutation 1:127. 136 ganciclo\'ifl:l74
focal segmental glomeruloscleritis [1i:65, 781 gangliosidosis (li: 1141
focal seizures in.Rasmussen's encephalitis gastric
[11:97] ,_ · absorption 139, 47
folic acid anaphylaxis [n: 1421 aspirate(~:: 118! .
follicle stimulating hormone !FSHI1:71. dilation 1:33 · ,
8o-8L a2. ss. 89, 90 lavage (\·.:ashingl 1:49. st (u: 1291
fontimelle. bulging [11:8, 15] motility 139. 47
Fontan operation 1:13 1 gastritis [u:-17!-
food allergy (;l: 115, 125j gastroenteritis 1:116, 126(11:25, 6 7. 68. 80]
food poisoning (11: 14, 47! . gastroenterology and nutrition
foot deformitY iri Halleivordim-_Spatz , 1:109-116. 117-126 .
syndrome r'n:88] gastrointestinal ble~ing (11:53]
foot drop in Kllgelberg-:Welander disease gastro-oesophageal retlux (GER) 1: I 04; 1 14,
(n:85] ' 123(u:ll..:.ll6,1,29], • ,.,.
forced expiratory now rate (FEF![11:129] gastroschisis •:96. 104,.. ..
forced expiratory volume (FEV) [n:l 14, 120; Gaucher disease 1:54, 62 [11:29, 48]
121,123. 129f"' · , gazedisorders[Ji:84, 109.111] ..
forced vital capacity (n:l23] · .. gerietics 1:121-135, 136-145. ,• ,,, · ~·
forehead size in achondroplasia 1:73; s4 genital hypoplasia in CHARGE association
foreign body aspiration [11:121. 131] •. [11:54!
foreskin disorders 1:96, 97, 1.00. 104-105,'106 genital tubercle 1:77
formula feed 1: n 6. 116. 125;126 [11:27, 30, genito"urinar\· abn'ormalities 1: t02, 164
35] . ' . . ·. . . genomic imprinti'ng abnormalities): 128, 138
fost~ring 1:96. 105 ..·- 1 ,. , gentamicin 1:45. 46. 48, 49, 51, 5.2 [11:45 5.SJ:
fragtle site mental retardation (FMRIJ gene. germ "cell tumours 1:103. !50, 160 , ·
1:127 - - germ-linemosaicisml:l42 ;•.
fragile X smdrome ~:26, 28, 3(36, 127.. !36 giant axonal neuropathy fu:92J. , ·
[11: 14 7. 157] · • · giant melanocytic naevi 1:64 .,
frataxin protein [n:S9J •• ,, giardiasis (Giardia Iamblia mfecw:::i L 1 1/.,
freckling 1:128 (11:89] 122 (u:20J · •·.• .1.
free bilirubin ::48 Giemsa staining [11: I 08] =· , •••!:'i
fructose r:i 19, 121 (11:27, 28, 35] r • Glanzmann·s thrombasthaenia 1: IS:~. ! 6:!
frusemide [u:60, 73]' • ' • · ., . 1 glaucoma (11:&3: 99, 106. 109) -
full blood count ;:88, 113 (u:l 7. 20: 42. 43. ··' • glibenclamide [n:21, 29] ., •
138, 144) ' · · · · global develo;:-mental delay 1:34.[u:66] .,,.. ,.
fungal infections:: 161 (11:12,.16. 81, t08J globin synthe:;is (red blood celTs) 1:14_8
fusidic acid therapy 1:179 ' '~ ' globus pallidt:s ~,;>
G985 mutation (1::34] I· lesions (11:91.] , .. , . :· ·~ ·•
'GAA trinucleotide repeat [n:SI, 89] necrosis (H32! ,
gait disorders [n:ss: as.S9, 94. 95] glomerular m:~ationr<'lte !GFR) 1:83!11:58, 61, .
galactosaemiaseea/sogalactoSe 71 •. 74. 15. i61] • ,. ,
,r 1 l
180
_I_
------'-~
INDEX-
I---·-
glomerulonephritis [11:57, 69, 74. 16] granulocyte colony stimulating factor (GCSF)
membranoproliferative (II: 78] 1:176 •-
mesangiocapillary (11: 77]· granuloma (11:52]
minimal change (11:65, 78] , granulomatous disease 1: Ill, 179
glomerulosa cell binding 1:90 granulomatous vasculitic -di5ease [11: 1411
glomeruloscleritis (11:65] • Graves disease 1:82, 83 ·' '
glucagon provocation test 1:72. 82 · great arteries 1:2; 12 •
glucocerebroside deficiency (11:29) grey baby syndrome 1:40, 43, 45;.48,' 50~
glucocorticoids 1:84. 86, 90 (II: 12; 1 grid analysis (statistical) (11:138, 159-160,
gluconeogenesis disorders [H:2S) 165] • . ·'
glucorinidation 1:40, 43, 45. 50. 51 group A streptococcal infection [1i: 135, 142]
glucose 1: 155, 180 (11: I 7.. 81. 90! s~t also group B streptococcal (GBS) infection [11: 18)
hyperglycaemia; hypoglycaemia ''' growth 1:83
after dextrose bolus (11:24] ~"' growth disorders see also failure to thrive;
CSF [11:15) . short stature; tall stature · '
childhood malignancy 1:168
hyponatraemia 1:67-68
liver f .ilure [u:27) " • -
·---
coeliac disease 1:88'
. '.
,)
•i,:·'
metab0lism 1:119, 148 growth failure 1:68
pituitary hormone testing 1:90 growth retardation 1:1 76 \
tolerance 1:82. 122 ·- maternal PKU [11:33] - • -, ..... j,
181
·.ESS ENTIA_ QUESTIONS .FOR .M RCPCH ·
heparin
74. 76. 134. 141)
.
182
L~
If:.'- I
.....
inflammatorY indices in Crohn's disease .,,..
hypothalamic hormone secretions•l:81, 86; I: II I. l,l5 . .
90 •'!• . . :,·__ .,,. . '"'
inflammatorY markers 1: I I 2' . "
ryypothalamus d\·sfunction r:78, 79. 90 (11:891 inguinal hernia 1:93:94/97. §8;'99, 107
hypothermia tiS ' "' · ,. , :. inhibin 1:71 ·• ·
hypothyroidism !:35, 55, 64; 7Q-7i. 87, innate immune System 1: I 69. '169.' Iii ·•'
88-89. 161 [,;:78. I 14, 124)' '·' . innominatcarterj f13 · .· • J' · ·
hypotonia 1:28,36. 132; 137,143 [:;! 42-43, · insomnia [li:83; 93) t .;;,
44;<46, 66, 8.Y. 85, 94) i - . ·· 1 instrumental deHvi;:ry_ {li:SO]. ·
t' hypovolaeli'lia [u:69] .· " "· insulin ~:76. 19: 91 1(u:33] __ · "
1
hypov<;>laemic shock:(li:211 ' :' , hyperinsulinismi: 79, _91 11i:2 1. 29; 33] ·
hypoXia ;,41!.so t:l:4-9. 'ii5;:·1·26.'13 11 ·- · · insulin~like growth factors i~'13;· 83. 90; 177
hypsarrhythmia [:1:87, 96] ' ·' · poi5911ing (11:29] · ·, ' ' '
ice packs 1:20~21 r .·. release (i!:l25J · · ·' .,:
ichthyOsis (steroidsulphatase defidency) resistance 1:86, 88
· •• '1:55, 57, 65 .. · ·· ·. · ·. ·· tolerance tesn:78, s2;·9o·• · ' .
ichthyosis \'Uigaris 1:62. 65' · ,. . intellectual impairmenli:Z5, 34·[i1:78)see'
icteric sclerae (n: t 07]" . fo" also mentat·de~eJopment~ {;-- ·
]l:nmigrant status 1:24, 31 . ' - . ' ' · intelligencetests (IQ) (1i:l47, 151,157, 163]
immune cell rrioli!it}IJ:168'.~!; ,., ' :: •, inten~ive chemoth~tapy-induced .' '
imm'l.me reactive 1trypsi'nogent-l: 127; 13-7 • ·. 'i!hmunoddticilncy 1:1 70 •
immdbe system dysfunction ~:4. i6 ' · intention' to treat (clinical studies) (n:165I'".
immunodeficien6vJ:I62; 173, 175: 18~181'· intercostal recession [11:67) ·· ·•·
fi1: 13, 92. 1 oir' , ~· , .: · 111 interferon-a therapy 1:179. ''
1
; . .
-
[.
:' '
-·
..
~-.
ISS
.
ESSENTIAL QUESTIONS F.8R MRCPCH
'
leukaemia r:57, 68, 78, 149, 1'ss. ·,59 diffusion capacity (u: j 30]
leukocoria (white pupil) [n: 10 I: 102: W91 forced expiratory volume [n: 123) ...
leukocyte adhesio[l d~ficiel)cy lYRe 1: .1. I 73, function in clinical studies (II: 158-1591
18G-181 " growth (fetal) [11:461 •
leukopaenia 1:164 [II: lA I 1 hyperinflation [11:1271
leukopheresis 1:1 76 · , hyper-luscency [II: ti'l f• 1 ' •-
leukotriene. receptor antagonist therapy peak expiratory flow [II: 130j ·
·-
[11:121) ' -\• ' ' .. " pressure-volume curve [II: 126) ·H
186
Mann-Whitney U-test (statisti::S),(n:I64J · tuberculous [n:l5; 90;d5J'' ' '. •; J'··r'• ·
1
manometry[11:84, 941 . · · meningococcaemia [lr:6,"1. 7) : ·
maple syrup urine disease (MSUD) [11:21, 26, meningococcal. meningitis [li:3L~· '
28, 34, 37, 46) . '. . meningoencephalitis 1: 11 1; 120; 180 ,.
Marcus-Gunn jaw winking syndrome [n:101, mental de\'elopment 1:23, 24, 26, 30,31
109] . diarrhoea 1:130 ' ' ' '
marfanoid habitus ·[11:291 · mental de\•elopment disorders 1:25, 3.;, 62,
Mar fan syndrome 1:8S, '142 [u~H}6J ·. . 84, 141 (11:28, 33) *" ' . . • ''
differential diagnosis 1:31 [li: .1071 differential diagnosis +1:! 30· '' ' " ·
disease. associations t73. 89, 103 [u:99) metabolic acidosis 1116, 50 [11:35, 601
features 1: I 30, I 41 [11:22. 29] · ·· causes'of{u:21f ' ' '
masculinisation 1: 140 · · ,. congenital J:I, U · ••. .
mastcellst148, 157[n:I09] congenital heart disease 1:9, 20
mastoiditis·· f1i!: 1 1J1 . · ·. " ~ drug~induced [ai:77]' · · ·. ·.
matched pairs analysis (clinical studies) ').. neonatal I: I, II (u:1f( :hj · · .r· ' ·
[11:146. 152, 155. 164!. : renal tub.ular [i,!25, 28, 33,.39; 58, 7o/78)
* ··.;"!.t-;;..
mater·nal,.. .- .·'"' .· ~~~·- . 1 -·~ ,·~ therapy [11:72, 73] " . · ·• •' ,,.
a?e 1:139 . c metabolic"alkalo'sis 1:42, 'so [11:51. 59. 78t
!'hsea~.l:l69 ,, r:.~ , . •.• · ·'·. ;. .• metaboiic meclidne {n:21-:27. 28~35]'
drug use 1: I [n: 7, 11. 39, '49, 50] see ~/so metachrortiatic leukodystrophy (11:83]
pregnancy •. " : . ., ,, , ~ ~· metachronous. hernia t99 · " '" ·
respo~sibility 1:95, . "\ , . , , _,, , , .• , methacholine"Chlillenge (u:h3j }' . .
smokmg [1!,50]· •. _ ~ 1 1. •• , ., . methici II in-resistant Staphy/ocdccus aureus
McCune-AJibright syn~rom~·" 71.~;~:. 80, 86,_ (MRSA) (n:SS] . . . .. _ . .. ,
87" 89, 130. 142 ~; •• : . ' . ··•{7 ,, methotrexate thera'py 1:57;66; ISO; 16<r
mDNA depletion syndrome (n:31] ... , , [,i:l33,135,,139.H2J ' -. '
mean ¢ell volume (Mev') 1:124. i4 7, t's2; '' methyldopa toxicit.(1~49 ',' · . ' · ..·.. •
mean'/statistical) [n:i.46J.147; 1561. ' . • metronidazole therapy r:t 12: 118,122
measles (rubella) see a/So Mi-n{ vaccine i:ll MHC aT)tigen compatibility 1_: 168; 176 •
' . '" . . '1· '
[u:3. I 5, 16, 48. 49) ' . i... . , micelle formation 1: I i 0' ' ··" ·'
differential diagnosis [n:'l8] · microcephaly [u:is. 33, '44.•s4. 91J.
disease associations [n: 114. I 24] microdeletion detection 1:.140
features [n:l, 4. 7, II)· microphthalmia iu:54J · •
notifiability [II: 14] . ;
micturating.cystourethrogram (u:J 7.' 73, i4,
Meckel-Gruber syndrome [n:52J 76] ..
Meckel's diverticulum 1:93, 93. 97, 98, 105, mid-brain [11:95]
110, 118 . . middl~ ce:rebral artery occlusion 'lu:84. 94]
meconium' middle-ear effusion t25, 34 ·
aspiration syndrome [n:37,47) mid-facial hypoplasia (Ji:54] . • .•.
ileus 1:1·22. t.=ntn:t27, 130] midgut malrotation (volvulus) 1:96,97. 104,
umbilical[n:52] · . 105, 106 .
median (statistical) [11:147, 150,156, i'62] mineralocorticoids 1:90
medium chain aceyi-CoAdehydrogenase miscarriage [u:l53, !65_:167)·
(MCAD) deficiency 1:28:-29, 88.[n:34] mitochondrial disorders t3 [n:78, 106. JOi;
109] .. . . ' ' . . ..
medulla [11:96] .._ •. .· · · . . ,.
megalocephaly 1:84 mitochondrial DNA (u:22, 30. 31}
Meibomian cyst (chalazion) [u: I 04; II 1] mitral valve disease 1:15, 85 [ii: 72]
meniory Joss [11:94] mixed connective tissue disease [II: 135, 142]
menarche 1:8! MMR vaccine t:23, 24, 30, 32, I 68, 175 ·
meningism [n:l I] Mobiu~ syndrome [11:38, 48, 94, 1o 1: 109]
meningitis'(u:l3,'!4, 1JO) modified Glenn operation 1: 13
aseptic 1:170, 175 molluscum contagiosum ·(mollusca
aetiology 1: i is. 178 [n:3, 4, IS, 18, 19, contagiosa) 1:22. 54; 63 (II: 121
81, 92,) . mbnozygosity [u:S I}
neonatal1: I 70, 178 Morgagni [u:47l
therapy 1:1 10. 178 (u:4, IS, 17). Moro reflex t:23, 30 [11:39.'50]
187
QUESTIONS FOR MRCPCH
·-
mouth nasolacrimal duct obstruction (n: Ill]
~.
1
blisters 1:69 nasopharyngeal aspirate (NPA) (II: I 08, 131 f"'
. ., inflammation [11:141) .• .. • •t National Institute for Clinical Excellence·
.~; ulcers 1:57, 67; 173 (11:134, 140, 142) (NICE) t82' - ~.
movement disorders (jerkiness) J:2s:3s'. · nausea Jn:86, 135: 142)
mtDNA depletion syndrome (1r:23) ·' neck stiffness [u: 19) ·
mtDNA point mutation (11:107] neck webbing lt1:54)
1 ,...,., .
mucociliaryele\:ator(n:127) . ,. " Neisseria gonorrhoeae [11:102. I io)
mucolytic drug therapy ju:124] -~ . Neisseria meningilidis tn:5. 4. 16]
muc0 polysaccharidoses 1:136 (u:3S, 109, 124] nelfinavir treatment 1:,177 '
mucositis 1:14 ' ' ~ nemalin myopathy 1:132
mullerian inhibition factor [n:37, 47) · • '! · neonatal alloimmune thrombocytopaenia··'
multicystic dysplastic; lddney (u:4t. 52] .. : : (NAIT) 1:149. 157 "
multiphasic disseminated encephalomyelitis neonatal lupus erythematosus 1:57, 59.
(MDEl\t) [11:901 ' 68,69 v • ' '
• 188
INDEX
....
oxyhaemoglobin [u:49, 90, 113, 122] pericarditis (II: 141]
p24 antigen unatern.iil) [u:49] periodic paralysis [11:92)
pachyonychia congenita t:53, 61 · periodontitis 1:32. 173 · •, .
pacing. in-dwelling transvenous 1:16 • perioral pigmentation diSorder~ 1:117
packed red blood cell transfusion (u:42) •. peritonitis 1:99 ·-
pain scale [:1:86] '' ·· · Perlman syndrome 1.:16.4 • ,.
palate ·.' 1 ·' · ,. ·' permethrin treatment 1:178
abnormalities 1:3. I 4, 85, 87 [11:88] ' ' · ' peroxisomes [11:23, 32, 34]
high arched 1:85, 87 · ' ,; ., persistent arterial duct 1:1.' 1 1. 12. 19
weakness (II: 140) '' persistent hyperplastic primary vitreous
pa!ivizumab xanti·RS\'l [u: 1271 · >' (11:101} .
pallor !paleness) t27, 35. 152, 154 '(u:42. 531 Perthes disease(n:1J~I37, 144] .
paJmo~lantar r.<!ratoderm~ 1:64 ,, I pertussis infection [11:3, 114, 116: 124]
1
pancreatic ' • petechiae 1: 154 ·" _ : ·
1
fibrosis [1:: 12 i] " Peutz-Jeugher syndrome 1: 10( 117•.
insufficiency 1:114. 122. 124 (11:127. do] phagocytes 1: IS 7 .. -
I pancreatitis t: 112. 122 [n:32J
pancreozymin cholecystokinin 1: I· 19
pharmacology and toxicology r:39-46. 47-52
phenobarbitone 1:118 (11:48)
pan-cytopaenia.1: 154 [n:32] phenylalanine [11:22. 30, 331 · .. ; •
pan-uveitis [n! 106] · . phenylketonuria (PKU) 1:! [n'n: 25; 30. 33]
papillo-oedema (n:63. 76. 84, 94, 95] · see .also ketqne production
paracetamol t:40, 44; 48, 51, 57, 67, 161 phenyllactate [il:27, 35] ·· '" .
parasitic diseases 1:148, 157 phenytoin [11:48] ·,. · . ·' ·•· •
parathyroid gland t:14[n:54] .drug monitoring 1:4 (45. 49, si.
parathyroid hormone (PTH) t:84 . maternal1:l, 11 , _,: ·
parathyroidism (ti:74J metabolism t:4 1. 43 •. 45; 50, 51
:; '
paratyphoid fever (II: 141 neonatal pharmocokinetics 1::Si '-
parental ' · ' protein binding tAO, 47. 49. 50,51
consent 1; I 02. I 06 side effects 1:41. 49, 51, 52, I (.9, i .78 [i1:83,
I responsibili~· 1:96, I 0 I, 102, I 06 931 .
190'
J
INDEX
191
. ESSE.~liAL_ QUESTIONS. FOR MRt:;P.CH
P waves (ECG) 1:12 . i ·; , .,, . deep tendon (11:96) f' ' '"; ' · <::·"
pyloricstenosisl:55.65,93,94,99 _ ~ , "' gag'(11>1~~9):~ .,•... '""'" ,.::::.·.~.;~·.,
pyrazinamide.therapy1:I79 (11:17,,125; 130]., grasp (11:39_. :>0, 94t. ., ,_:, .•... , ••...
pyridoxine therapy.i:179 (11: 1'7] , . ~ ,;__ • head-nghtmg 1:30 · • • '·· · ···• .,
·pyruvate (11:33] .. '"' • .I · hyper-reflexia (11:63, 74, {6('' 1 ' ' • 1 '•
pyuria 1:99 ., '.i. }i<;-:<. , ·;·!'> Moro 1:23, 30 (11:39, 50].' , • ~;!
QRS complex 1:8,19 _; 1 ., parach,ute 1:30. ·. ,' , ,,'_1•.. ,,. • •
'QScomplei(J:19. . , p!ipillaiy(11:99,'102,106,IIO]. ··•
QT intervall:4, 15 red (11:27, 34] ., • ,
rabies (11:14] tendon (deep) (11:63, 89, 96) ·. ·'
race factors (ethnicity) .1:84, 134. 137, I4J, vestibulo-ocular (11:86, 95, 96)
144, 162 l , ~
v '· refleX tachycardia .(u: 1"25] t.
l'adioallergoabsorbent assay (RASTJ (II: 12?1. reflex times in clinka studies .(lr: 148, 158]
radiofemoral delay 1:16 • · · reflux nephropathy (n:63, i3. 74, 76; 77) · •
radiofrequency ablation 1: I 0. 21 Refsum disease (11:32, I 06)
radioisotope clearance (11:61, 7S) regression anaiysis (statisticah in: 151, 163]
.. radiotherapy .. . , . ,. .. " · · ...........'"· .: . __ !ehydration therapy 1:126, 150, 160 (11:2,} 2,
cancer 1;85,151,·161- . •· . 59, 68, ·7s:·so.··l27]seea/so fluid therapy·
complications 1:32, 74, 85, 151, I6.1 (II: 18) relative risk (statistical) (11: 161) ..
randomised clinical studies 111:145. 146, 149, reliability (statistical) (11: 156-:-157)
150: 154, 155,161, 165] · renal · ' ·
rash see also urticaria ., agenesis (1!:46]
arthritis !11:9, 19, 20, 134, 136, i39, .., aldosterone level1:86, 90 (11:72]
140, 143] ,. angiomyolipoma (11:81, 90)
bacteriall:9, (11:'4, 19) .. angiotensin (u:72]
blueberry muffil) lpetechiae) f11:7, 18) arterv aneurYsm (II: 142] '
exanthema (II: 4]. artery stenosis 1:129, 141 (1i:59; 76. 77) '"
itch\· 1:58 bicarbonate (11:58, 71) · · ·•
drug-induced (11:93), biopsy (11:78]
macular-papular 1:172 (II: I] bone resorption (11:74]
malar 1:61 (11:140] calculi (stones) 1:33 [11:17. 30, 93)
non- blanching (1!:6) clearance 1:48, 51 · ·'
roseaola 1: ISO , •• . cysts i11:4 i. 52, 59, 71, 72] see also
193
ESSEt.iTIAL QUESTIONS FOR MRCPCH
·-
acute uso'[u:73] ' ' detachment [n:54]
chronic 1:12. 82[11:59, 60, 74; 76, 78) dystrophy [II: 107]
aialysis i:4o. 48 (11:60, 73] ·' . ' !
,, end-stage (11:71, 74, 771,
hamatoma (11:81. 106]
hyperoxia [n:109] . •. ·u~ · '
intrinsic [11:58. 71] oedema (u:74J ·
I ~ • ·:. ., '
pre-renal [11:58.71] opaCity (11:109)
,.
severe 1:40. 41. 48 ·
glucorinidation 1:40
hamatoma [u:90}.
' . pigment disor_d!'!r [II: 106] ·~·
pigment epithelium [II: 108]
retinitis pigmentosa-[u:99. 106]
'
194
.,
INDEX
: _~. 1i
\ 195
QUESTIONS FOR MRCPCH
196
'INDEX
197
FOR MRCPCH
198
INDEX
urethral • ."; · :·' '· i:. . • vernal conjuricii\rius· {u: 1ot 109] '"''' ·. · ·
abnormalityl:77 [11:50; 74r'" 1 .-~ . ·; • 1 vernJca [ll:2. 12). •' ' "'' ·i '·'-' \1J,·,,.,
meatus 1:94, 100 ' ·' ' vertebral abnormalitieS see spin~! di$6rders
I
uriate oxidase 1: 160 ., ~·- · ·. vertigo [11:93] · · .. • ' • ·' ·l 'i''" · ·
uric acid .production i: I so; 16() [rl:'33i very-long chain acyl-co:A dehydrogenase ·
uridine diphospfiate (UDP) gi~coronyl . deficiency(VLCAD) (n:21,28J · '· ~~''' 4
transferase 1:118 ' ' ' very-long chain fatty acids [n:32. 34)
urinal-v '·' · ' very lo\•: btrt h wetght [1i:40. 58) ''• -~ ·
. dysfunction 1:94. I 02 i ' · '· \'esJcopustular les1ons i:60, 69-70' '
now obstruction (11:76] vesicouret<"ric reflux (V!JR) (u!J7, 60,·73! 76)
incontinence·t95 (n:94l: -r - · • · ··' 'vibrio cho!er.:Je: 1:118 <·· · · · ·' 1 '
tract infection [11:6:22;'30, 73:76. 17] Vl cranial (abducens) nerve [n:94. 104. Ill)'
urine pH [li:sS, 66, 70, 78) see also aciduria vigabal!in (u:87, 96. lOS, I 12] ·'""'
urine discolouration [li: 125] ' . •. vincristine t 1SO, 160 •·: t•• •·· v\-··· I
urticarial rash 1:58;'58;68. 1(6. "124: li6 · violaceous heliotrope [11:143] · ..,_~
[II: 1 1'7] ~' . vital infections 1:54; 172 [it:2J "'' •·
urticaria pigmentosa 1:62. 70, 126 Y viral myositis [u:l43] ·'
. Usher syndrome [11: IOI')J · · _ virilisation t:87 [11:471 ' · •\·
uterine growth r:49-"SO, 73. 83 (11:39. 54] vision defects (u:S9, 102. 105, JOJ:.,JoS:I 10.
restriction [n:39. 49"-SOJ · .:. ~ · · 112]' • ' , • • •. ' ;~ '.' ' ·: l': '·
uterus development [n:37, 47] · visual · -' .,,. ' ·• •
uveitis [n:I06. 140] ·'·' · ' · • acuity (11:94. l03.,1t!J'' •. ,:... •
VACTERL association iu:54J ·function 1:25fu:84, 106) "
vagal manouevres -1:20, 21 ... monitoring (II: 1 12) · ·
vaginal delivery [11:49] vital capacity (limg) [11:118, 129,"130)' ''
valine [11:34] vitamin < "·
Yalsalva manoeuvre 1:21 A 1:65. 119 [11:23, 32]
vancomycin 1:41. 49 [11:45, SSJ absorption 1:119
variables (clinical studies) (11: 146. I 54. 156, 8 12 (cobalamin) 110 (11:29]
'T64j' · ·· · ,--~·s~:- 1so · · -· · · ,. _. . . -~-~------"~-~--· --.--~ ---·~-,
varicella (chickenpox) 1:6, 12, 68, I 70 [11:2, 16, . D, 1:61. 66--67, 73, 80, 84 [11:50. 73, 150,
41. 52. 53] 161. 174]
varicella zoster immune globulin I\'ZIG) 1:6, E (11:106)
IS. 42. I 70, 178 (11: 52] K (11:38. 48. 53]
vascular resistance [II: 126] supplementation studies [u: 145. ISO, 161]
vasculitis 1:14, 168. 175 vitreous opacity [u: 109)
vas deferens volume of distribution(drug) 1:39.43,45, 47.
aosent 1:137 48,50
obstruction (II: 127] vomiting [II: 1 I I]
vasoconstriction (peripheral) [II: 118] differential diagnosis 1:97
vasodilation (peripheral) [11:125) · drug side effect [n:93J
vasopressin-neurophysin 1:86 hyponatraemi~ [11:67]
vasopressin secretion ~:71, 81. 86· IHPS 1:99
VATER complex 1: I 03 , induced t:42. so. 51
I
velocardiofacial syndrome [11:54) liver failure [11:27)
velopharyngeal insufficiency 1:129 . neonatal infection 1:8)
venepuncture neonatal jaundice [11:44]
199
:f.r'l
. )(:t:~.(
ESS~NTIAL ,QUESTIONS FQ=>, i"'1RCPCH
'~~
lyphoid fever [u: II) .' , ,
viral infections 1:172, 180 ~ ! 11 174 ·, -
vomitus ~~ '· ,1 ' · • , : , •• , infectious diseases [11:8, 9. 10, 18) .
bile-stained (green) J·93,,94. 97. -10_1.,121 neonatal disease [11:42) ,• . · · ~- , .
coffee-ground 1:93, 99 renal disease [11:62, 63, 6i.
78( · · ·
c····.:· sodium [n:SOJ . . . rheumatologic disease [u: 136, 138, 142]
·- von \'llillebrand" _, ,
factor 1:148, 1'5·7. Iss
disease 1:148, 157-, .163 .
Waardenburg synd.roine [n:iOSJ
WAGR'syndromeJ:I64' .
.· ,:· 1'".
'l
200