Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
for MRCPCI-J
~ Volume 2,
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Edited by
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PASTEST
Dedicated to your success
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First edition 2004
ISBN: I 904627 33 I
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.,
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acting or reframing from action as a result of information contained herein can
be accepted by the publisher or the authors.
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Contents
iii
Contributors List
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CONTRIBUTORS LIST
London
Tammy Hedderly MRCPCH, MBBS, BSc (Hons)
SpR Paediatric Neurology
-'
Department of Paediatric Neurology
Guy's and StThomas' Hospital NHS irust
London
...
~.
StMary's Hospital
London
Chris Reid MRCP (UK) FRCPCH
Consultant Paediatric Nephrologist
Department of Paediatric Nephrology and Urology
Guy's and St. Thomas' Hospital NHS lhlst
London
. Angie M Wade MSr PhD CStat ILTM
Senior Lecturer in Medical Statistics
Centre for PGtedjatric Epidemiology and Biostatistics
"'
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
vi
- - - - - - - _r ,; ___;,.
the introductory list. Agairi: e~il could be.possiblebut 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 ateaiso:doWnloadable sample:papers;whi~li strc>UlO:be
reviewed.
We are indebted in the production of this book: to the many authors who have
vii
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0
0
0
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A persistent pyrexia
B sp!en~m~galy,; 1
C bradycardia
D conjunctivitis
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E cough
't
0
0
0
0
0
A diarrhoea
D convulsions
E coryza
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0 A
0 B
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nterobacter
rotavirus
c Salmonella . ' ..
D enterovirus
E Campy/obacter
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B verruca
C impetigo
D tinea capitis
E molluscum contagiosum
.0
. 0 B hepatitis C
0 c. atypical Mycobacterium
0 D Lyme disease
E erythema infectiosum
0 A
0 B
0 . C
0 D
rubella
polio
Pneumococcus
Salmonella
E Norwalk v1rus
0
0
0
0
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10. A 9-month-old child with croup, who has marked stridor at rest
and a barking cough, should be treated Y.ith
,.
0
0
0
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0
2
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INFECTIOUS DISEASES
0
0
0
0
0
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A meningitis
B cavernous sinus thrombosis
C cerebral abscess
P cerebral artery embolus
E epistaxis
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A herpes stomatitis
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0
0
0
pertussis
malaria
measles
viral meningitis
E menil')gococcal meningitis
A
B
C
D
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0
0
0
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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
would be included in the differential diagnosis
0
0
0
0
0
A atypical tuberculosis
B cat scratch fever
c lymphoma
D Rubella infection
E Toxopla~mosis infection
0
0
0
0
0
0
0
0
0
0
A mycobacteria
B adenovirus
C Staphylococcus au reus
0 PneumocysUs c:arinii
E Neisseria meningitidis
0
0
0
0
ot childhood exanthema ,
0 .
0
0
0
0
4
A
B
C
0
E
interleukin-1
interleukin-6
interleukin-8
interleukin- 10
tumour necrosis factor (TN F)-a
.I
INFECTIOUS DISEASES
0
0
0
0-
A Bordete/Ja pertussis
B Bacillus anthracis
c. Pseudony,qnas aemgino_sa
D Neisseria meningitidis 1
E Haemophilus influenzae
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0
0
0
0
0
A
B
C
D
E
CDS count
Full,blood cpunt , _1
HIV antibody
HIV viral load
Immunoglobulins
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A
B
C
D
E
0
0
0
0
0
0
0
-0
A
B
C
D
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Blood culture
Full blood count
Lumbar puncture
Meningococcal PCR (polymerase chain reaction)
Rapid antigenscreen
25. Which one of the following children does NOT require specific
varicella zoster immunoglobulin (VZIG) after .being exposed to a
case of chickenpox?
0
0
0
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INFECTIOUS DISEASES
0
0
0
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A Streptococcus pneumoniae
B Mycoplasma pneumoniae
C Mycobacterium tuberculosis
D Chlamydia trachoma lis
E Haemophilus-injluenzae
0
0
0 .
0
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A
B
C
D
E
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A
B
C
D
E
F
G
H
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.
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%.
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%.
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&.
INFECTIOUS DISEASES
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For each of the following case scenarios select the most likely diagnosisfrom
the Jist above. Each optionmay be used. once, more than once, or not at all.
c
D
E
F
G
H
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Giardia
Yellow fever
l)'phoid
Malaria
1\.lberculosis
Diphtheria
Tetanus
Ebola
Dengue fever
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.
10
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1.
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Bronchiolitis in infants
Answers: A CD E
Virus
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lj'phoicfjs known' the great mimic arid can presenl'in rnany ways.lypically
children have persistent' swinging pjrexia, headache, diarrhoea, vomiting.
abdoll)inal pain, aJ1d a cough. Characteristic features of typhoid include rose
spots (pink mactiles) and a rel~ltive bradycardia when pjrexiaL they may also.
have signs of heart failure, meningism or shock. Splenomegaly is preSent in
around 25% of cases:
3. Features of measles
Answers: BE" '
. -- --'
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
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All can cause diarrhoea except for Enterobacter, which is a part of the normal
gut flora.
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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.
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6. Chickenpox rash
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Polio, Salmonella and Norwalk virus are all transmitted by the faeco-oral
route and therefore infe<;tions are exacerbated by poor hygiene- espe,cially
lack of hand washing.
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12
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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.
There are many serious potential complications from orbital cellulitis. These
include involvement of the optic nerve, leading to loss of vision, and
intracranial extension ofinfection. leading to meningitis and intracranial'
abscesses. Cavernous sinus thrombosis is another well-recognised
complication because the venous drainage around the orbit and face is back
into the cavernous sinus. Finally. it is always worth imaging the sinuses
because orbital cellulitis is often associated with underlying sinusitis.
further investigation if they are the only infections a child has had.
Cytomegalovirus (CMV} pneumonitis is unusual in children with normal
immune function, but children with T cell dysfunction such as HN can present
with this. Any child with two serious bacterial infections needs investigation
of their immune system. Finally the occurrence of more than ten to fifteen
upper respiratory tr;:u;::till{e_ctiQI}~_in_a year may indicate a minor
immunodeficiency.
- --
13
14
Acute encephalitis
Acute poliomyelitis
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
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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.
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INFECTIOUS DISEASES
Avoiunce ofbreas~feeding.
Babies should be diagnosed by polymerase chaih reaction (PCR), orviral
culture if under 18 months of age, as 'maternal antibody may persist this long
and so give false-positive results, It is important to give anti-retroviraltherapy
as saon as possible after birth ... .
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16. Meningitis
Answer: C
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complement deficiencies.
18. Childhood
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Cytokines are soluble small proteins that mediate signalling bet:Ween cells.
They usually act in an autocrine (on the cell that pro_9u~~ thl=m) ,or P.aracrine
(on cells close by) manner. They act by bin<;fing to specific r~ceptors at the cell
membrane which causes intracellular signalling and the ~ubsequent
induction, enhancement, or .inhibition of cytokine-regulated genes in t~e
...... nucleus: Cytokines released at the earliest stage~ of.ar infection help to
determine the nature of the subsequent immune response and may be
described as 'pro' or 'a.nti' inflammatory.
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INFECTIOUS DISEASES
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A chil;1\vha.;had prednisolone 2
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INFECTIOUS DISEASES
3.
G - Methylmalonic aciduria
1.
H - Lyme disease
weeks
The second option is juvenile idiopathic arthritis (JlA). Systemic onset JIA
presents with prolonged fe\'er and malaise but a very different salmon pink .
rash. The rash of infective endocarditis (lE) (third choice) is also very different
with Janeway lesions. splinter haemorrhages and Osler's nodes.
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)
C -l)'phoid
3.
D - Malaria
A child with malaria can present acutely unwell, often with a fever and cough.
Severe diarrhoea is rare. They are often anaemic wit~ a raised bilirubin but
normal liver function tests. TUberculosis is the second possibility- although
less likely as the.history is relatively short. 1Jphoid is a great mimic of other
diseases, and is the third choice:
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20
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0
0
0
A
B
C
D
E
Hurler syndrome
ornithine transcarbamylase deficieJ"!g
biotinidase deficiency
Lesch-Nyhan syndrome
acute intermittentporphyria
...
,,
0
0
0
0
0
A
B
C
D
E
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isovaleric acidaemia
very long chain acyl-co-A dehydrogenase deficiency (VLCAD)
venepuncture with tourniquet
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Smith-Lemli-Opitz syndrome
hypovolaemic shock
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0
0
0
0
0
~ hyperammonaemia .
4. Hypoglycaemia
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0 A
0 B
0 c
0 D
0 E
0
0
0
0
0
A
B
C
D
E
osteoporosis ,
t
span is greater than height
thrombotic tendency.
hypermobile joints
ectopia Jentis
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0
0
0
0
A
B
C
D
E
photophobia
grO\'Ith faltering
renal calculi
seizures
rickets
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8. Phenylketonuria (PKU)
O
0
0
0
0
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0
0
0
I 0.
Th~
0
0
O
0
A
B
C
D
E
' 22
.
'
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METABOLIC MEDICINE
0 A Gilbert syndrome
0 B galactosaemia .
0 C Crigler-Najjar syndrome
0 D mitochondrial DNA depletion syndrome
0 E tyrosinaemia
12. Metabolic disorders presenting with dysmorphic features in the
0
0
0
0
0
0
0
0
0
0
0 A urea cycle
0 B fatty acid oxidation
,.
0 C glycosylation ofglycoproteins
0 u- bile~aciifsyiltnesis - - _...
0 E phytanate oxidation
15. 11te following are CQnsistent with a' diagnosis of propionic
addaemia
0 A hyperglycaemia
0 B neutropenia
0 c hypercalcaemia
0 D- ketonuria
0 E raised lactate
23
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0
0
0
0
0
A
B
C
D
0 A
0 B
0 c
0 D
0 E
.'
Hydrocortisone
Ottreotide
Glucagon
Sub-total pancreatectomy
Diazoxide
0
0
B Lactate
C Chest X-ray
o Amino acids
E Blood culture
_;.
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24
METABOLIC MEDICINE
0
0
0
0
0
A Propionic acidaemia
B Citrullinaemi:t
C Renal tubular acidosis
D Protein-losing enteropathy
E Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
0
0
0
0
0
A l~fant plasma;:imin~acids
B Maternal plasma amino acids
.C Infant urinary amino acids
D Maternal urinary organic adds
E Maternal urinary amino acids
0
0
0
0
0 .
...
0 .A
0 B
0 C
0 D
0 E
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Fabry disease
Sand hoff disease
Niemann-Pkk type C
Gaucher's disease
Tay-Sachs disease
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ESSENTIAL QUESTIONS FOR MRCPOi
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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
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once, or not at all.
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I. Zellweger syndrome.
.
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2. Maple syrup urine disease (MSUD) ..
3. Lesch-Nyhan syndrome.
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Ectopia lentis
Corneal clouding
Stellate iris
Pigmentary retinopathy
Cherry red spot
Cataract
Arcus juvenilis
Kayser-Fleischer ring
Glaucoma
...
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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.
.
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0
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0
26
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METABOLIC MEDICINE
Isovaleric acidaemia
Fructosuria
~rrosinaemia
\o\'ilson disease
Galactosaemia
Zellweger syndrome
Medium chairi acyl-CoA dehydrogenase (MCAD) deficiency
Ornithine transcarbamylase (OTC) deficiency
Hereditary fructose intolerance
' '
For each of the following case scenarios select the most likely diagnosis from
the list above. Each optidn mC?)! be used once, more than once, or not at alL
< 5).
2. Hyperlactataemia
..
Answers: A B C E
3. Metabolic acidosis .
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. 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.
ratio is normal.
s.
Organic acids conjugate with glycine and carnitine. speeding their excretion
via the kidney. Glycine is used'to treat isovaleric acidaemia, whereas carnitine
is use.~ in methyl malonic and propionic acidciemias. 1)rrosinaemia is treated
.with 'NTBC which effectively blocks the production of damaging metabolites;in
the tyrosine catabolic pathway. The path\vay remains blocked, and therefore a
low-tyrosine diet is still required. but the hepatic and renal complications are
abolished. Betaine is used tore-methylate homocysteine to methionine in
classicaLhomocystinuria and in other metabolic blocks with associated
elevated homocysteine. eg cobalamin (vitamin 8 12) defects. Gaucher's disease
is a sphingolipidosis characterised by the storage of cerebroside in liver.
spleen and nervous system, secondary to glucocerebrosidase deficiency.
Previously bone-marrow transplantation has been used. but has been
superseded by enzyme replacement therapy. Sodium phenylbutyrate and
sodium benzoate are used in urea cycle defects, such as ornithine
transcarbamylase deficiency, as an alternate pathway for nitrogen clearance.
Conjugation with glutamine and glycine produces water-soluble products
that can be excreted directly by the kidney, avoiding the need for processing
by the urea cycle, and thus reducing the load on the pathway.
Dextromethorphan is a partial antagonist of the NMDA receptor to which
glycine binds in the central nervous system. This blocks the excitatory effect
of glycine and therefore helps reduce seizures in non-ketotic
hyperglyCinaemia (NKH). Long-term neurological development remains
severely affected. .
29
r
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7. Cyst!nuria
AnS11'er: C
8. Phenylketonuria
Answer: E
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.
~Mitochondrial DNA (mtDNA) is inherited from the maternal egg. The paternal
mtDNA is locatedin the tail of the sperm(which does not _enter the egg at
fertili;;ation). Point m1;1tations are inherited through the female line, however
rearrangements such as deletions and otiplications tend to be sporadic \\ith
" 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).
. Dysmorphic features occu in inborn errors associated with the making and
breaking of complex molecules. Inability to synthesise structural molecules
interferes with embryogenesis (eg plasmalogens in Zellweger syndrome,
glycoproteins in carbohydrate-deficient glycoprotein syndromes (COG), and
cholesterol in Smith-Lemli-Qpitz syndrome). Inability to break down complex
molecules (as in lysosomal storage disorders like Hurler syndrome). results in
coarse dysmorphic features which develop over time beca.use of accumulated
storage. Initially the neonate appears normal. Most patients with inborn
errors are not dysmorphic.
At-risk family members should be screened, but ideally not before 5 years of
age. This practice is based on the unreliability of neonatal values in predicting
adult values, and the lack of evidence to support infant treatment. 'Lifestyle' is
the treatment of choice for heterozygotes aged less than 1oyears. involving a
healthy diet and exercise_ The cholesterol-lowering margarines are effective in
children and are more palatable than binding resins. Statins are used in
children who are homozygotes, and in heterozygotes aged more than 10
years. The age at which to start statins is controversial, and is based on an
assessment of c;holesterolle\eJ. gender, and family history. Girls are at less
risk, tending to develop heart disease 10 years later than males. Family
ll
'
'
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
Answers: A B
DE
..
and pancreatitis.
us
- _L
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 ofa 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
'-
in
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 longchain fat oxidation defects and are not usually necessary in MCAD diagnosis.
22. E:
~y-Sach~
disease
1.
is
G -
Cataract
. .
METABOLIC MEDICINE
3.
B- Corneal douding
1. E - Galactosacmia
Galactosaemia classically presents towards the end of the first week. Milder
forms may present at a few months of age \"'ith renal tubular acidosis secondary
to proximal tubular damage. Hepatomegaly may be marked, even reaching as far
as the right iliac fossa: Clotting is always prolonged and bruising on present~tio"n
comnon. jaundice is present within the first days and deepens with time as liver
funct.on deteriorates. Cataracts are usually present from birth, but because of.
their initial transparent nature (oil drop) before they mature, they are easily
missed as the red reflex is visible through them. If the diagnosis is missed they
will become more obvious with time. Iftreatment is started early they will
resolve completely. Sepsis is very common in galactosaemia at presentation,
with special susceptibility to E. coli. Reducing substances in the urine may be
positive in liver failure, no matter what the cause is, and has led to misdiagnosis. Phenyllactate and 4-hydroxyphenyllactate are non-specifically raised
in liver impairment, and the normal orotic acid rules out OTC as the cause (it
does so in all three of these scenarios). The ammonia is slightly raised and is a
non-specific finding in a sick infant, particularly \vith liver impairment (the liver
being the home of the urea cycle). Fat oxidation defects can present with a Reye
syndrome-.like picture; however, one would expect hypoglycaemia to be a major
feature.
2.
C -l}'rosinaemia
3.
35
--
"'
I -
Grenville Fox
:I
. ...
~.<r:.t?;&f.,; .
:,": .;.
..-)7. . ,~;:;.:_~i:m
I.
0 B
0 c
0 D
0 E
'
'-
: 1-
0
0
0
0
0
A
B
C
D
E
. -.
0
0
0
A
B
C
D
E
0
0
0
A ovaries develop from the primitive gonad due to the influence of the X
chromosome
B mullerian inhibition factor is produced by the testis _
C the uterus and fallopian tubes develop in the absence of mul!eriim
inhibition factor
37
.-.'
. j
!aJ
1 ...
{/)
OJ
:s
:o-
0
0
0
0
..
6. Neonatal iisterios!s ,
0
0
.. ~
'
C is associated with maternal contact with cats
D should be treated with third generation cephalosporins .
E has a good outcome if treated with appropriat~ antibiotics ,
0 A
0 B
0 c
0
placental insufficiency
pre-term birth
cleft lip an(fpalate ' '
D Mobius syndrome
E duodenal atresia
'
}
'
.,
;: .~
:,.
l
'
,,
~1
bleeding)
.. ,
0
0
0
0
0
0
0
38
A
B
C
D
E
,'
'
-,-----
..
''t
NEONATOLOGY
'
_,
t:;;
0
0
0
0
0
A
B
C
D
E
(I)
A
B
C
D
E
0
0
0
0
0
A
B
C
D
E
Caesarian section
0
0
0
0
0
A
B
C
D
E
trisomy 18
altitude
maternal smoking
fetal alcohol syndrome
maternal antiphospholipid syndrome
0 A
0 B
0 C
0 D
0 E
0
0
0
0
0
0
0
0
0
0
i.C"
!c
:. m
A
B
C
D
E
39
.en
IC
io
0
0
0
0
0
A
B
C
D
E
maternal hypoparathyroidism
maternal diabetes
Di George syndrome
hypermagnesaemia
hypophosphataemia
,.
0
0
0
0
0
true
0
0
0
0
0
.;,
'
infants fed enterally
B the predominant protein of human milk is casein
C approximately 50% of energy ir. human milk is fat-derived
D glucose is the predominant carbohydrate source in human milk
E the sodium content of human milk is inadequate forvery-lowbirthweight infants
..
t..,.
'
'.
40
NEONATOLOGY
0
0
0
0
A
B
C
D
Discharge home
Ob$erve in hospital for 48 hours
Await result of vaginal swab and'treat the baby according. to this
Perform an infection screen and treat with intravenous antibiotics if
results suggestive of sepsis
E Perform an infection screen and treat with intravenous antibiotics for
at least 48 hours pending results
0
0
0
0
0
0
0
A
B
C
D
E
41
.o
:::1
fl)
>
~\
~ '
rten
i.
t
c .'
.
~0
--...,en
I
CIJ
::s
tT
0
0
0
0
A
B
c
D
0 .c
B coagulation screen
Apt's test
Kleihauer test
Bone marrow biopsy
0 c
0 D
0 E
..
..
0
0
0
42
A Trisomy 21
B Neonatal encephalopathy
c Congenital myotonic dystrophy
NEONATOLOGY
0
0
.
;( ,r
.'
0 A
0 B
0 C
0 D
0 .E
Ho treatment
Intramuscular vitamin Konly
. ,
Intravenous vitamin K only
Intravenous vitamin K plus fresh frozen plasma
Intramuscular
vitamin
K plus fresh froieh plasma
' '
_,.
'
'
'
~'
:s
r,
....
'
27~
A NO-further screening
treatment is required and the visual prognosis
is good
B No further screening or treatment is required but spectacles are likely
to be required later
C No further treatment is required at this stage buHurther screening is
necessary and the visual prognosis is likely to be good
D neatment is required with laser therapy or cryotherapy
E There are retinal detachments and visual prognosis is pooP .
0
0
0
0
or
'.
43
tt c~. :
I> "olif'
o~t.
' ';'
-:::. "B
c
D
E
F
G
H
<
V~CTERL ~ssoci~tion
CHARGE association
1risomy 1i '
Trisomy 18
22q deletion
Noonan syn'drome
Fetal alcohol syndrome
Goldenhar syndrome
Rubinstein-laybi syndrome
Congenital rubella
For each of the following case scenarios select the mosr likely diagnosis from
the list abOle. Each option 'nwy be used once, more: than once, or not at all. .
0
0
0
1. Term baby, birth weight 3.2 kg, facial dysmorphism with cleft lip and
palate, heart murmur.
.. .
2. -Term baby, birth weight 3. 9 kg, facial asymmetry with a~normafleft
pinna. Hemivertebrae in cervical and thor'!cicspine. Heart murmur.
3. Baby born at 3~ ~eeks, bir~l) :veight [OQ g .. J"!li.f~~S~P.~aly,p~.f!JRiex
,, congenital heart .disease. congenital,diaphragmatic hernia, facial
Physiological jaundice
G6PD deficiency
ABO incompatibility
Crigler-Najjar syndrome
Congenital hypothyroidism
Hereditary spherocytosis
Rhesus incompatibility
Gilbert syndrome
Biliary atresia
Galactosaemia
J
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.
44
NEONATOLOGY
Flucloxacillin
Vancomycin.
Amoxicillin
Benzylpenicillin
Gentamicin
Erythromycin
Pyrimethamine
Cefotaxime
Amoxidllin and gentamicin
Benzylpenicillin and gentamicin
For each of the following cases select the most appropriate antibiotic. or
antibiotic combination from the list above. Each option may be used once,.
more. than once, or not at all. .
0
0
pustu'lar rash.
3. A 26-week gestation baby ventilated for chronic lung disease is
investigated for in(.Teasing ventilatory requirement and increasing
quantities of yellow secretions frorri the endotracheal tube. Culture of
these grows Chlamydia spp.
45
Answers: DE
,,
{'
2. Pulmonary hypoplasia
Answers: A c E
.i'
r~
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.
case's).
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
7. Polyhydramnios
Answers: B DE
48
NEONATOLOGY
immunodefici~ncy
virus
Answers: CD
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.
TOt.;tl parenteral nutrition (TPN} may lead to hyperchloraemic acidosis in preterm infants. which can be reduced by substituting the sodium chloride in
TPN with sodium acetate. Use of normal saline for t1uid resuscitation, flushes,
and in arterial lines may also lead to hyperchloraemia and metabolic acidosis.
Other causes of hyperchloraemia include proximal or distal renal tubular
acidosis and nephrogenic diabetes insipidus. The latter may be inherited as an
X-Jinked condition and leads to insensitivity of the distal renal tubule to
antidiuretic hormone (ADH). This leads to polyuria with dilute urine which
may cause polyhydramnios antenatally and dehydration postnatally, with
raised plasm~ sodium, chloride and creatinine.
so
NEONATOLOGY
Sl
.-,
.;ii
!
'!
'
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.
'
The bilirubin level at this age is too high for physiological or breast milkassociated jaundice, which both tend to present later. Rhesus haemolytic
disease is not possible as the baby' is rhesus negati\e. Spherocytes and
- reticulocytes are seen commonly on the blood film in ABO incompatibility.
The direct Coombs test is sometimes negative in ABO incompatibility,
reflecting a low concentration of antibody on red blood celis.
23. E: Treat baby with varicella.-:zoster immune globulin and
.
I
_ _I
NEONATOLOGY
The main risk factors for retino;:>athy of prematurity (ROP) are prematurity
and hyperoxia. All pre-term infants born before 32 weeks' gestation and/or
1500 g birth weight should be screened from 6 weeks of age. Staging
determines treatment and prognosis and reflects the degree of
neovascularlsation. ROP stages 1 and 2 usually regress but continued
screening is required until \'as.:ularisation is complete. Visual prognosis is
good but there is an increased risk of refractive errors and squint. Stage 3 ROP
53
.
.
1
l. c- Trisomy 13
Features of trlsomy13 include holoprosencephaly, scalp defects,
microophthalmia, cleft lip and palate, polydactyly, renal'atinormalities. and
congenital heart disease.
2.
H - Goldenhar syndrome
54
i'
NEONATOLOGY
I.
B - G6PD deficiency
The presenting signs suggest early kernicterus, made more likely by the
extremely high unconjugated hyperbilirubinaemia.The low haemoglobin and
presence of reticulocytes suggest severe haemolysis. This excludes
Crigler-Najjar syndrome; and Gilbert syndrome only leads to mild
unconjugated hyperbilirubinaemia. There are no apparent blood group
incompatibilities, thus making G6PD deficiency the most likely diagnosis,
which can be confirmed by biochemical assay.
2. C-ABO incompatibility
There is a moderately elevated unconjugated bilirubin and a set-up for ABO
incompatibility. The direct Coombs test !Tlay be positive or negative in ABO
incompatibility and the blood film often shows spherocytes and reticulocytes.
3. A- Physiological jaundice
Apart from the moderately raised unconjugated bilirubin, all investigations
are normal. It is not unusual for pre-term infants to remain jaundiced for 3
weeks.
55
.,ro
C/)
''
-~.r
...
.
,. .':
~
..
,._
'.
'.
.. ll"
.,
,,
... ,
~" ..
,.,
. ~l~~~~~.~~:.::~-.-~'~1""7:'.\
~~t~~::n-.::~~~$~1-1~~-~~.r~;:~~~.
0 A
0 B
0 C
0 o
0 ,E
hyperlipjd~emia
malnutrition
primary pne.umococcal perito[litis
prolonged biet;ding
pulmonary embolism -
0
0
0
0
0
A
B
C
D
E
hypotension
peripheral oedema
haematuria
hydronephrosis on ultrasound
dysuria
0
. 0-0
0
0
0
0
0
0
A
B
C
D
E
"
0
0
B
C
D
E
of
systemic acidosis
urine pH can be acid ( < pH 5.3)
it can be caused by galactosaemia
it can be caused by cystinuria
it can occur as pan of Fanconi syndrome
0
0
.;
..
.,.
0
0
0
"
'
E plasma bicarbonate is lower in newborns than in older children
/
because the bicarbonate thresholdis lower in:newborns .
.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
0 D hypotension
0 E' urinary osmolality of> 500 mosmoVL .
'{
58
NEPHROLOGY
.
(""
r'~!
_ .
',
!1
. ~ ;j-'7;'\ -,.,.'"J
1~.
-.
:""-'
;,
..
#"
,.
'
"-
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)..
'
'
0 E hypertension is an uncornmon'coinpiication .... '. I ' a ..
~~
'~--
.,
'
._
'
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)
12. The following is true of diuretics
~- -~.
A spironolactol!e exerts its potassium sparing effect b}/iricreaslng
.
PP,~~~!.~rn reabsorption in the proximal convoluted tubule
" l :
0 B loop diuretics cause hvpokalaemia by increasing distal tubular sodium
delivery
r ';
. r..., " ' '' .. : ;. I '"'
''i. f
0 c thiazide diuretics act on antidiuretic hormone receptors in the
collecting ducts
.,
0 0 loop d.iuretics can cause a metabolic alkalosis
)
0 E loop diuretics may potentially be nephrotoxic
.
--,_ ~:!
,4<,1
.. I .1
13. The following is true of renal homeostasis
P.: in c;~r, 'synd~ome re~i~iMels J;e~igh
~Jf~' "''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
patients
with
renal
artery
stenosis
typically
have
a
hypokalaerriic
0
alkalosis
. ' .,. .... t ;
0 E typically patients \Vith Addison's disease nave hyperkalaemia and
hyponatraemia
'
/>.
o' .
'
'
, .
59
0
0
0
0
0
16. The following are indications for dialysis in acute renal failure
0
0
0
0
0
.
'
.
B increasing hyperkalaemia not responsive to conservative treatment
c hyperammonaemia
D urine outputless than ~.SmVkg.thour
' '
\,!
i:
'
\{
..
0
0
0
0
0
A failure to thrive
,
B Vllth cranial nerve palsy
C petechiae
D proteinuria
E retinal haemorrhages
'
..
~ .. -
. !
i ... ,.
'
a:
,-
'
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.
.....
.,/ 'r
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O. A hypercalcaeJl1ia ,
0 B. iron deficiency anaemia
0 C ~secondary eJ;lU res is.
0 D delayed puberty
0 : E hypophosphataemia . , .
..
.. .,
,
' ... ~
,.
0
0
0
0
0
60
~ ,_
B are rarely associated with chronic renal failure if sorrested .surgically
immediately after birth
C occur in both sexes
D are associated \\'ith polyhydramnios
E an intravenous urogram is the.investigation,of shoice
'
'
NEPHROLOGY
o-
0
0
reabsq~p.tion
f.,
0
0
0
'
.~ ~.
-f'
,. __
...
"'
,.
.....
'
o( cre~tinine
*" ' -
.,
. I""
.
" ., '
'
'
'-,
.
_,_ ...
A is always associated \liith abnormally low levels of antidiuretic
hormone
'
.
,
''
B is characterised by low plasma osmol~lity ~th inappropriately high
urinary osmolality
...
Ill .,
c is associate with'hyponatraemia
.
' p :~~~~estpe~ted,~fiit~fi!IY.pj ~yid r~str!eticirl'"'>'.
E 1s a cause of polyh)'dramntos
:~
.Y
#"
,.,.,..
~~.....
1,__.
.J~
..,...~-~#(11
... ~\
J_
..,
' .
'
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61
0
0
0
0
A Micturating cysto-urethrogram
--0~1fo!V!sAscan.
0
0
0
NEPHROLOGY
0 A
0 B
0 c
0 D
0 E
Brain tumour
Coarctation of the aorta
Encephalitis
Haemolytic-uraemic syndrome
Reflux nephropathy
0
0
0
0
0
A Alport syndrome
B lgA nephropathy
c Nephrolithiasis
D Mesangiocapillary glomerulonephritis
E Acute post-streptococcal glomerulonephritis
63..
-..,
{/}
GJ
::s
tr
0 A. Bartter syndrome
0 B' Conn syndrome
0 c .Cystic fibro'sis
I
.
0 D 'Miinchhausen by proxy byadministration of diuretics
0 E Renal artery stenosis ..
.'
..
'
'
..
.
64
. "',.
'
. NEPHROLOGY
For each of the ca;e scenarios 's~Iect the mosi likely diagiiosi;from 0"e list
above. Each optkm.may be used once, more than once, or hot at all. .
0
,.
:!
"
. I
65
Bartter syndrome
Congenital toxoplasmosis
Cystinosis
Lowe syndrome
Nephrogenic diabetes insipidus
Insulin-dependent diabetes mellitus
Reflux nephropathy
Pseudohypoparathyroidism
For each of the follovving scenarios choose the most likely diagnosis from the
list above. Each option may be used once, more than once, or not at all..
66
_l
NEPHROLOGY
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 .
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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.
,,.
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2.
Glomeri1l'O~:ii:Itrs '
Answers: BC
-~--
Answers: A C E
II
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69
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4. lgA nephropathy
Answet:B
serum JgA is normal. Jt can present with any of the renal syndromes. H is a
cause of persistent microscopit haematuria without any other renal
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
IgA nephropathy are histologically indistinct and may be different spectrums
of the same disorder.
'
5. Proteinuria
Answers: B 'E
Although proteinuria is common during acute febrile illnesses follow-up
sh<:)l.i'ld be ensured to check'theptoteinuria resolves. Dipstick testing is a good
screening test forproteinuria although there are pitfalls. The gold standard
for quantification of proteinuria is measurement on a 24-hour urine
collei:tion;;howe:Ver, this is difficult to dci in chfldreri. Estimation of ,
protein:creatinine ratio on an early morning urine is~ wdrihwhii~' .
compromise. Orthostatic proteinuria is a benign condition and does not
usually require renal biopsy. In orthostatic proteinuria. proteinuria is absent
when the patient is recumbent. Regardless of how dih.ite or concentrated a
urine sample is, if the concentration of the substance being measured in the
urine is factored by the concentration of creatinine in the urine, then the
effect of alterations in urine concentration is eliminated.
be
...
is
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70
NEPHROLOGY
'..... I{
AnS\vers: A B DE
Distal - and very rarely proximal - renai tubular acidosis is cause of
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. . .
8. Neonatal renal'furiction
AnS\vers: B C DE
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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.
. Large echo bright kidneys, 'A'ith or without cysts that are small(< 2 mm) are
characteristic of autosomal recessive kidney disease. The severity of hepatic
fibrosis varies from sub-clinical to overt liver disease, which is the dominant
clinical feature. There are two gene loci for autosomal dominant polycystic
kidney disease; the commonest of which is on chromosome 16, adjacent to
the tuberous sclerosis gene. Autosomal dominant polycystic kidney disease is
associatedwith cerebral aneurysms, subarachnoid haemorrhage, mitral valve
prolapse, and hepa.tic cysts. Hypertension is a major clinical feature and it
may be very difficult to treat.
12. Diuretics
AnSlNers: B D
.;, '
..
'
Answers: DE
...
72
NEPHROLOGY
This inborn defect in the Na-ci-2CI co-transporter in the loop of Henle results .
in urinal) sodium. chloride and water loss. It is autosomal recessively
inherited. Markedly increased urinary chloride and sodium with normal
serum creatinine are typical. lncreased delivery of sodium to the distal
convoluted tubule result in reabsorption of sodium in exchange for_ potassium
and hydrogen ions, resulting in metabolic alka~?sis:
'
A MAG 3 renogram can be used to demonstrate VUR by scan.ning over the
kidneys while the child voids after all the isotope has drained from the upper
tracts into the bladder. For thistest to be reliable the child must be old enough
to have bladder control and to. \'oid on command:
'
'
Creatinine itself is not toxic and takes days to rise. even when there is no renai
function, so there is no absolute level at which acute dialysis is indicated.
Haemodialysis can aid removal of low molecular weight toxins, such as. .
ammonia or salicylate. Acute renal failure results in impaired excretion of
hydrogen and potassium ions. H,Yperkalaemia can result in ventrlcular
'
tachycardia and ventricular fibrillation. Oliguria is not in itself an indication
for dialysis;naweveTvoluii1e~ overloa'da-rrctresrrltant hypertension
.. '
17. Nephrocakinosis
AnS\-vers: A B c D
18. Hypertension
:.
'
Answers: A B DE
'
'
Answeis: B c D
:l .,
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).
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74
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NEPHROLOGY
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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 xray 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.
..
-~--
NEPHROLOGY
77
1.
'
'"'ill
3.
This child has nephritic syndrome (renal impairment and oliguria leading to
hypertension and fluid overload). Ma'ny glomerulonephritidies can present
with nephritic syndromebut it is reaso~able to assume that the cause is acute
. post-streptococcal glomerulonephritis
and not perform ..a renal biopsy if there
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29.
TUBULAR DYSFUNCfiON
1.
A- Bartter syndrome .
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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. .
'
is
3.
D- Lowe syndrome
..
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78
'.
NEPHROLOGY>
decades.
30. THEME: HYPONATRA.EMIA
is given by:
2 x (Na
+ K) + (urea + glucose)
2.
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Tammy Hedderly
0
0
0
0
A
B
C
D
E
2. Friedreich's ataxia
0 A
0 B
0 c
0
0
a
0
0
4. 1\Jberose sclerosis
0
0
0
0
0
0
0
0
0 A
0 B
0 c
0 0
0 E
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OA
0 B
0 c
O 0
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paired with
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0 A
0 B
0 c
0 o
0 A
0 B
0 c
O 0
0 E
0
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82
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NEUROLOGY
0
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0 B
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cry. There is a .
fluctuating ptosis and hypotonia. The baby has attacks of
apnoea. The motber'has"no "medical hi.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'
electromyography. The MOST likely diagnosis is?' '
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A SleepEEG
B CT brain with contrast
c Magnetic resonance spectroscopy
D Lumbar puncture with manometry
E Visual evoked responses and electroretinogram
0
0
0
0
0
84f 3
A Cominon carotid
B Middle cerebral.
c Ariterior cerebral
D Posterior cerebral
E Posterior cerebellar
NEUROLOGY
18. A child presents with a facial palsy several weeks after a flulike 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
. 0 B
0 c
0 D
0
0
0
0
A
B
C.
D
E
0
0
0
0
B
C
D
E
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0 E Classical migraine
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0 B Diencephalon
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0 c Mid-brain-upper pons
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0 D Low pons-upper medulla
0 E Medulla
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NEUROLOGY
23.
A
B
C
D
E
F
G
H
J
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;:.;.,'~~,U:. ,':'...1.-~:.-:-...-,.,;:t~~
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Select the most apprC?prfate a!'li"epileptic medication for each of the following
children. Each option may be used onaf, more than once, or not at all.
24.
A
B
C
D
E
F
G
H
f
.. r-_""
., .
1.. A 15-year-old boy seen in clinic who has had three witnessed
generalised tonic'-Clonic seizures in'the last 3 months: -
2. A 4-year-old girl seen in.dinicwho has had'severaf complex partial
seizures.
.~
. ,.
3. A 6-month-old with infantile spasms and a chaotic 'hjpsarrhythmic
electroencephalogram. Woods lightexaniinatibn reveals several
hypopismented patches. ' .
.
,., :
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1
~- ,._. ' p~ttel'l!s in epilepSy syndromes
Theme: F;EG
,. .Hypsarrhythmia
4-5 Hz poly-spike and wave discharges
Diffuse slow and spike wave discharges
Burst suppression pattern
ltace pointu alternans
Occipital spikes- Ct;ntrotemporal spikes
No abnormalities
Electrical status epilepticus in sleep
Unilateral temporal spikes
'
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For the following epilepsy syndromes choose the most likely EEG pattern from
those listed above. Each option may be used once, more than once, or not at
all.
81
MRCPCH
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1. Neurofibromatosis type 1
'AnS\ver:s: B D
'1.
'
Neurofibromatosist.ype 1 (NF 1) is an. autosomal dominant condition with an
incidence of J in 2500 to i in 3000. About half the cases are the first in the
family. ForCiiagnosis, two or more ofthe following are required:
}'
.
~~~ary,.g~.groil) fr~cklil)g
~. qptic;patnwayglioma
l' ~
~
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....~ lWo oqnore ~i~.ch nodules
sony dysplasia
..... '
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Friedreich's ataxia is the most common hereditary ata~ia. The triplet repeat
GM is located in the first intron of the frataxin gene on chromosome 9ql3.
The frataxin protein is a mitochondrial protein that plays a part in iron
homeostasis. Onset usually occurs around puberty with tlumsiness of gait.
.
Clinical features are: .autosomal recessive onset prior to age 25 years,
progressive limb and gait ataxia, absent tendon reflexes in the lower limbs,
and evidence of axonal and sensory neuropathy on electrophysiological
investigation~ The motor nerve conduction velocities are usually normal.
There is progression to dysarthria, areflexia, and loss of proprioception or
distal joirits. extensor plan tars. and pyramidal weakness of the legs.
89
3. Cerebrosplnarnuid f"mdings
Answel5: A D E
CSF is produced mainly by the choroid plexus. It' should have a clear and
4: 1\lberose sclerosis
Answers: B D E
. .
Answ~r:
i ;
D . , .r
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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. Thecorrect diagnosis is important as the risk
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.
of
6. , Rett syndrome
y ' ''
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.
1. Inheritance of neuromuscular disorders
Answer.s: A B
8. Ion channelopathies
Answer.s: All true
91
(.
~..
Answers: A B D
Childhood stroke is as common as brain tumour, occurring in 2.5 to 13 per
I 00, 000 children and in 40 per l 00, 000 neonates. Around half the children
presenting with ischaeniic arterial stroke'will have sickle cell anaemia or
congenital cardiac disease. Other predisposing conditions include
immunodeficiency, homocystinuria and bacterial meningitis. In the neonate'
the pathology usually suggests an embolic aetiology. Venous sinus
thrombosis is particular,ly, c~mmon in the neonate altryough it can ocqu. at all
ag~s. Haemorihagic stroke may be caused by coagulopathies or structt~ral
lesions such as arteriovenous malformation. There has been <m argument to
give thrombolysis for ischaemic st.rokfi within the fit st 3 hours. very.few;
children will present within this recommended time to a stroke centre for
accurateassessment and management. Around 75% of children with .
ischaemic stroke h~ve a residual.motor deficit. They may.~lso present with ,
cognitive and behavfoural difficulties. M~ifiable risk f?ctors need to be: ..
identifiea to. weveht r~cu'rrence: .~:. . .
'
'';
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
i?
92
. ,..
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abducens nerve associated \\ith iL
of
1 7. B: Middle cerebral
NEUROLOGY.
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20~ C: Infa~til~~otuHsm ,1 . , ,
., ;. 1 >:<
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The condition's listed above can all present with peripheral hypotonia; Infant' .
botulism most commonly:presents at 2-;6 months.with the s_yrt.ptoms' ' . ~
described above. Clo~<ridium botulinum is' a Gram-positive spore-forming
organism found in soil, agricultural products, and honey. Respiratory failure .
can occur. The toxin.is released and binds irreversibly1to J:!re~synaptic, ,. -l~t . ,
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~., PupiIl~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.
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males, most often occurring in those in their late 20s and rarely in children.
"
Periodicity is the predomiqanHeature with chronic episodes of headaches ,
lasting for 2-3 months;-there is usually no aura; and the pain is excruciating '
often in the trigeminal distribution and may be associated with lacrimation,
sweating. ptosis and nasal .congestion. Tension headaches are diffjJse and :
bilateral often described as pressing or a being like a tight band; auras are rare.
Chronic paroxysmal hemicrania is similar-to cluster headache but the paih is " '
usually in or around the orbit; headaches last for. a short time,(S minutes) but
occur many tim~s ~ day. Hyd~ocephalus can present as headache, This is 1
usually wors,e in t~e morning. There may be associat~d gai~ abnormalities and .
crantalnerv~ ~igns n<?tably,VIthnerve palsy and qiplopia; There is often .loss of ;:J
fine motorcoor~ination. Papilloedema is frequently present i; .:
..
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22. C:
Mid'brain-uppe~
pons
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1 . B - Sodium valproate
.
For idiopathic generalised epilepsies-sodium valproate is usually first-line
choice of medication. The exception is for teenaged girls because it is
necessary to consider the nsk of polycystic ovaries as well as teratogenicity.
Lamotrigine would be preferred in this group.
'
2." E - Carbamazepine
Carbamazepine is first-line therapy for partial seizure disorders.
3. I - Vigabatrin
West syndrome is characterized by infantile Spasms, hypsarrhythmia and
developmental delay. The first-line medications for this group are
prednisolone. adrenocorticotrophic hormone. or vigabatrin. With an
underlying diagnosis of tuberose sclerosis vigabatrin is preferred.
'
97
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0 A mydriasis
i
0 B ptosis
,0 c ipsilateral anhydrosis
0 D normal PtiRiHary_r~flexes_
l
0 E hetero!=hromia iridis .
4. Glaucoma is a recognised complication of the following
0 A Wilson disease
B Horner syndrome
.,
0 C retinopathy of prematurity
0 D Marfan syndrome
0 E neurofibromatosis type I
ESSENTIAL
FOR t1RCPCH
..
5. The following are causes of ~on genital cataracts
0
0
0
0
.0
A maternal diabetes
B galactosaemia
C varicella zoster
D hypothyroidism
E ~maternal ~teroids.
'I
0 A
0 B
0 c
0 D
0 E
- .
0 A
0 B
0 c
0 D
0 E
osteogenesis imperfecta
trisomy 21
Ehlers-Danlos syndrome ,
_, ..
~-thalassaemia
ataxia telangiectasia
>, .
'
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0
0
0
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B .pregnant seronegativewol'!1en-sh0tHdbe-immedtatelyiinrrtuntzed
C cataract is the commonest ocular feature
D the presence of rubella igG antit)odies in the iftfant~c~nfirffi~ the
diagnosis
'
E the electroretinogram is usually normal
1 o. In orbital cellulitis
0
0
0
0
0
...100
A
B
C
D
E
' '
.......
OPHTHALMOLOGY
f,
0 A
0 .B
0 C
0 D
0 E
":
' ...
l.
r . '.. .
;" ~ "' .
0
0
0
13. Vernalconjunctivitis
,-_.
0
0
.0
0
0
is commoner in girls
is assoeiatecl,with atopy
is ~eas8nal "
i J
requires long-term corticosteroid use
E has photophobia
a common feature.q ..
0
0
0
0
0
111!111
,.
,-;,
:r
t.
A
B
C
D
"
*' jJ~iJ~r!i#~}j.~
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14. Ris~ factor~ for rejinopathy of prematurity include
_,
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101
--
16. What is the MOST likely visual field defect in a child diagnosed.
with craniopharyngioma?
0
0
0
0
B
C
D
E
''
Homonymous hemianopia ;
Bitemporal hemianopia
Peripheral field defect
Central scotoma
..
0
.0
0
A Chlamydia
t:.
Neisseria gonorrhoeae
C Haemophilus lnjluenzae
D Staphylococcus aureus
B
t:
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
0
0
0
0
B
C
D
E
~c
~..
..
A-Cryotherapy.. -- . -
0
0
B
C
D
E
Corticosteroids
Laser therapy
Observation
Antihelminthic drugs
"
..
. . . .
. "
.r
. _.L -
- ...L
OPHTHALMOLOGY
0
0
0
0
0
A
B
C
D
E
Adenovirus
Herpes simplex
Patamyxovirus
Corona virus
coxsackie virus
i"f
~I
A Orbital cellulitis
0 >s Mastoiditis' ' ~
0' C Cavernous sfm.is'thtomoosis' .
0 D Frontal sinusitis
0 'Cerebral ab:SCess
(~
-,~,:,. ,1~,
...
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. "..\'
0
0
0
A
B
c
D
E
3.~year-old
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A
B
~-- ~.
c
D
, F
G
..
--
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..
.;
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...
~~
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
0
0
t ... rt.
,{;,
-.
D
E
F
G
Rhabdomyoma
Hordeolum
Neuroblastoma
Cyst of Moll
Meibomian cyst
Dermoid
Obstructed tear duct
Capillary haemangioma
Cavernous sinus thrombosis
- ' t, .
Select .the best option from the Jist above to match the followingdesr:;riptions of
masses around the eye. Each option may be used once, more than once, or not
at all.
0
0
0
; 104
I. A painless hard nodule in ari 8-year-old boy near the upper-lid margin
that has been present for some weeks. but has recently become red and
inflamed.
2. A tender red superficial swelling on the outer eyelid margin in a 3-yearold girl.
3. A 4-day-old boy presents with a bluish mass inferior to the medial
canthus.
OPHTHALMOLOGY
Match the following adverse effects to 1he dhigs listed above. Each option may
be used once, more than once. or not at all.
U')
A
B
C
D
E
. . I
./
'.
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..
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,,) .
lOS
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ansWers
.
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1. Retinitis pigmentosa
Ansvvers: '8 C
.. '
t'
cD
The uveal tract consists of the iris. ciliary body, and choroid. Anterior uveitis
(anterior chamber and iris) and pan-uveitis are painful. whereas posterior .
uveitis (choroid and retina) is painless. and therefore disease progression may
be more marked prior to diagnosis in young children. Causes of posterior
uveitis include infection by Toxocara and Toxoplasma.
3. Homer syndrome following cardiac surgery
Answers: B CD
4. Glaucoma
Answers: CD E
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
7. Blu~ scie~ae
Answers: A
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
and Il)atid arenot 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.
.'
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td
.;
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Answers: A E
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I 0. Orbital cellulitis
.
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AnSlvers:A CD E
.
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Answers: A B D
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108
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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"mucopolysaccharidoses- with .the exception of
Hunter sjndrorru'i- are associated with corneal clouding.
.
109
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).
l"'
The findings are consistent \'lith damage to the optic n~rve in the affected eye.
In lllrq nel'Y,~ pa}syt~~ pupU,~s fi~~<;ld.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
' .
'
'
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;, .
'
19. B: cOrticosteroids
.
'
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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
, ,.
. _ _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:
; .. . ' .
.
\.
-~
'
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exC~miner stands,(:) m away ariq holds "up letter~ ofdiff~rent size which ~he .
.(
child. has to match with those on the card. A standard Snellen chart can
usually be used in c;hildren aged 7 years upwards. The other.three tests are .
used for testing in pre-verbal children. The Catford.drum (verticalstripes)
relies on n'!rmal ~CIJity to produce optokineticnystagm~s.
'.
l.
2.
B - Hordeolum
3.
Infants v.'ith nasolacrimal duct obstruction present with tearing and increased
mucus accumulating at the inner canthus. Spontaneous resolution occurs in
h<ilf of all cases by 6 months. An amniotocele may appear as a swelling in the
medial canthal area as a result of fluid sequestered in the nasolacrimal sac. If
not infected, local massage may affect a cure. Infection requires intravenous
antibiotics and probing.
'
Ill
:
~:'
'
'
..
..
. .
1.
G ~ Vigabatrin
Vigabatrin may cause permanent visual field loss, and 'therefore an attempt
should be made to assess ba.seline perimetry prior to"'- or SOon after- starting
E- Ethambutol
3.
B- AmJodarone
..
Ethambutol is used to treat tuberculosis. Retrob~lbar neuritis is a dosedependent ~ide effect that presents with colour vision defects, central and
paracentrai scotoma, and reduced acuity. Recovery may take weeks to months
after ethambutol is stopped.
Amiodarone deposits are seEm in both lens and cornea, and are related both
to dose and duration of treatment The deposits are reversible .. _
.'
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Andrew Clark
......
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, ~-
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.Multipl~ C~?oice.Questions
1. Erythema nodosu.m is a recognised f~ature of
0 A
0 B
0 c
0 D
0 E
sarcoidosis '
"
!.
,.
cystic fibrosis
'~ .~
pneumococcal pneumonia
pulmonary tuberculosis
Kawasaki's disease
.v,r
. , .,
':"\:
0
0
0
0
0
A
B
C
D
E
0 A
0 B
0 c
0 D
0 E
4. Digital clubbing is
0
0
0
'
J'
'
a chatacteristic feature of
A cystic fibrosis
~,
. , .
B pulmonary sequestration
., ,. ,
.... .
c bronchopulmonary dysplasia '" . ' '""-~ t*' ''
D primary ciliary dysplasia
E biliary cirrhosis
. n ''
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,.
'i 13
ESSENTIAL QUESTIONS
MRCPCH
0
0
0
0
0
0
0
0
0
0
0
0
0
A hypothyroidism
B trisomy 18
C Pierre Robin sequence
D GMJ gangliosidosis
E. neurofibromatosis type
...
')
'
I'
0
0
0
0
0
A sarcoidosis
B primary ciliary dyskinesia
c gastro-oesophageal reflux
D pertussis infection
E measles infection _
'
0
0
0
0
0
'
'
0
0
0
0
0
. ~~~
I
,.
~~.'I
rm .
0
0
0
0
0
A
B
C
D
E
~,,;_,.,..
~~~::.~~
~. (/)
.......
..
0
0
0
in
0
0
0
0
A
B
C
D
E
hypoxia
nitric oxide
prostaglandin 12 ..
platelet activatingfactor
histamine
0
0
0
0
B
C
D
E
0 A
0 B
0 C
0 D
0 E
hypertrophic osteoarthopathy
rectal prolapse
glotl;lerulonephritis
azoospermia
diabetes mellitus
'
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115
-.
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c'
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.....
0
0
0
0
B
C
b
E
nasal polyps
..,
hydrocephalus
bronchiectasis , .1
malabsorption
."
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I
D interstitial pneumonitis
.. E pneumococcal pneumonia
0
0
0
0
0
.,
.,.
': '
'
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~.
~(
.. :
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. '....
..,
...116
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RESPIRATORY MEDICINE
.--.~.r-
.:::; .
~ -1'~4\'i:::"..t.~~.:-.;..-~n.t.-);.
... '-
0
0
0
0
0
A l ~n 4
B I in 100
c 1 in 160
D 1 in 200
E 1.in 2500
20.
0
0
0
'
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.~
'
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'
,,
0
0
0
. o .
0
A
B
C
D
E
Adrenaline intramuscu,larly
Adrenaline intravenously
Hydrocortisone intravenously
.Chlorpheniramineintravenously
Chlorpheniramine orally
'
'"
'
0
0
0
0
0
A
B
C
D
E
117
E~ENTIAL QUESTIO~S
0
0
0
0
0
FOR MRCPCH
24. In a child who pre~ents with ascending paralysis of the legs and
0
0
0
0
0
D Vital capacity
E Peak expiratory flow rate
.
.
,.
0
0
0
0
0
' .
lymphadenopathy and red, tender lesions on her shins. Which is
the MOST useful diagnostic test?
118
J.
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.
RESPIRATORY MEDICINE
i .
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0
0
0
0
119
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C1)
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c-
A
B
c
D
E
F
G
H..
1
Bronchopulmonary dysplasia
Acute lymphoblastic leukaemia
Asthma
Interstitial pneumonitis
Cystic fibrosis
Rheumatoid lung disease
Pulmonary tuberculosis
Allergic bronchopulmpnary aspergillosis .
Primary ciliary dyskinesia
......
!
.J
For each of the following case st,enarios select the most likely diagnosis from
the list above. Each option''may be used ohce;~rriore than once, or not at all.
I. A6~year-old boyhasa historyoffailure to thrive"and multiple chest
infe,ctions. On exfimin_.ation_,h; ha~ cpgi_tal club~ing .~nd ~oar~~ c;,:f~~'
throughout his chest. Haemoglobin: 1.1.2 gldL. Forced expiratory
volume in I second (FEVJ 86% of expected; Chest X-ray (CXR):
-Bilateral streaky shadowing.
Sputum bacteriology
. Nasal brushing
c Bronchoalveolar lavage
D Lateral neck X-ray
E Barium swallow
F
Rigid bronchoscopy
G Serum Aspergillus specific JgE .
H Flow-volume loop
Serum viral studies
For each of the following case scenarios select the most useful inl'estigation
from the list abo\'e. Each option may be used once, more than once, or not at
all.
. I
120
__,
RESPIRATORY MEDICINE
0
0
. .
.. / .
on
E.
,'<
F
G
H
";,;
.,_
..
r
. }
For each of the following scenarios select the most appropriate possible
addition or change co outpatient management from the list above. Each option
may be used once, more than once, or not at all. .
'
-0 ... 2. A 9"':ear-old girl with asthma is reviewed after 3 months.-She has been
taking 800 J.t.g of inhaled,b~clometasone dipropionate per day, a longacting 132-agonist and a short:ai::ting 132-agonist as required. She
reports that her symptoms have improved greatly and she now hardly
.. uses her short-acting 132-agonist.
. .
0 3. A 3-year-old boy with asthma has persistently po_or control despite.
regular use of inhaled beclometasone dipropionate ~00 ,...g /day.
' 121
'"'J
1: Erythema nodosum
Answers: A CD
,.
'
.
.
Haemoglobin (Hb) affinity for oxygen increases as the partial pressure of
.
....
3.
Anshers: B
,)
cE
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
\;u-
DX
T
(P 1-:-P2)}
'
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 .
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123
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7. Enlarged tongue
>-JA. :<' ~
Answers:Aco'-
'l
.
'
.... , ~~.. ~ .
~,_
An enlarged tongue can obstruct the airway and lead to an emergency,
'"
,.,.
'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
.
:... .J a ~
' ' ~'
back to obstruct the airway.
.
8. Causes of bronchiectasis
., ,Answer: A]/ cme
, I ->~ I . >,!
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BD
'
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...,
Early lung development starts With a ventral out pouching of the fore-gut,
lined by endodermarepithelium. This givesrise to right and left lung buds
which by 6 weeks contain segmental bronchi. By 16 weeks all the conducting,
ainvays are present. as blind tubes lined by cuboidal epitfielium (pseudoglandular stage). Cilia and cartilage begin to develop. From 17-'.24 weeks .
(canidkuiar stage) distal airway epithelium thins out in preparation for gas':
exchange. The lungs become.\ascularised and surfactant synthesis begins. In
the alveolar sac stage (25-:40 weeks) thin~walled saccules at the end of
respiratory bronchioles develop into alveoli. After birth, the majorityof lung
development occurs in the respiratory unit. and alveoli continue to be formed.
until approximately 3-Syears. when the number of alveo!Lreaches that of an
adult. Surfactant is a mixture of surface~active phospholipids which reduce . ..
alv~qlar,membrane surface tension, reducing the negative pressure the infant
needs to generate to expand al\'eoiL Surfactantproduction is increased by
'
glucocorticoids andthyroid:hormone: "
:.i ,...
'
124
"I
~r
RESPIRATORY MEDICINE
r-- --
r~
I 0. Adrenaline
".
'
1l .
Answer: B
The perceived prevalence of food allergy is high (20%) but the prevalence of
Confirmed food allefgy is more likely to be1 2-3% in ch-ildfen. Nearly all food
allergic children have sufferej from some other allergy. such as eczema or
asthma or le_ss commonly rhinitis. Egg and milk allergies are usually outgrown
by school age, with more se\ere cases persisting. Peanut allergy on the other
hand is longer lasting anp it v.ill resolve in only 20% of those with mild allergy.
Again, more severe cases are likely to be long Jived. Diagnosis is made on the
basis of a typical history ofan allergic reaction occurring soon after ingestion of
a likely allergen. This is confirmed by detection of specific IgE to the allergen
either by skin prick test, or in the serum (CAP-RAST test)_ In equivo~l cases oral
challenge may be used. Treatment involves providing detailed written and verbal
avoidance advice, together \.ith a written emergency treatment plan detailing
how and when to give oral antihistamine and/or intramuscular adrenaline.
12. Tuberculosis
Answers: B D
125
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) 3. cystic fibrosis
Answers: A C
14~
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., Ans\-vers: A DE
. ,
1 , ,
1,
. The pulmonary circulation delivers blood to the ah~eoli for gas exchange: The
relatively low mean pulmonary arterialpressure ( 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
..
Lung compliance is defined as the change in lung \'olume per iihit of pressure .
. It is also represented by the slop~ of the pressure-\ioJume curve. This is a
sigmoid shape, so compliance also depends on the initial lung volume, from
which the change in volume was measured (eg at large lung volumeswhere
the lung is near its elastic limit, the pressure.:.volume curve is less steep .and
hence compliance is reduced). Pulmonary surfactant produced by type 11 ' -
pneumocytes in newborns reduces surface tension and increases compliance .
. In respiratory distress syndrome there is a deficiency of surfaCtant (most
commonly due to~prematurityj and compliance is reduced.
t,._,.-..,~,
126
'
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.
Answers: ABc D
Primary ciliary dyskinesia occurs in one in 15, 000 births, with autosomal.
recessive inheritance. It results in abnormalities of cilia such as missing
dynein arms, absence of radial spokes or aplasia. In the respiratory tract this
results in failure of the mucociliary elevator and clearance of secretions,
lading to bronchiectasiS; chronic rhinitis and glue ear. Fifty percent also have
dextrocardia and situs inversus (~rtagener's syndrome). infertilitY through
.impaired sperm motility and hydrocephalus, presumably due to impaired
ventricular ependymal cilia, also occur. Diagnosis is suggested by low exhaled
nitric oxide and confirmed by nasal brushing for ciliary beat frequency and
electron microscopy. n-eatment is with physiotherapy and antibiotics with
specialist Ear Nose and Throat (ENT) assessment.
127
19. B: 1 in 100
2.
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
'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.
'
,
rx
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allergen.
128
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.
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.
'
26. D: Gastric aspirate
The scenario describes a child with tuberculosis, the red lesions suggesting
erythema nodosum. The presentation can be subtle with few chest signs. The
classic features of fever;:lethargy and weight loss can be absent in children.
Acid-fast bacilli are best obtained by gastric washings, usually on three
successive mornings; bronchoalveolar lavage has a lower yield. The diagnosis
129
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F- Rigid bronchoscopy
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c - Brorichoalveolar lavage
3.
.A change to the updated British Thoracic Society guidelines was the inclusion
ofleukotriene receptor antagonists in children aged 2-5 years who ha\'e poor
control despite-maximal sterbid therapy.
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of juvenile idiopat~c
artitrltis
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0 A the majority of patients are positive for rheumatoid factor ' '
O~B. arthritis is presentfor a mhiirnurn"'f 3;months.
0 iYonly occurs in children l1nder;\j 6 years of age
....
0 D it occurs in 1 in 1000 children
0 E;~,i~ is mor~!~quen~n.girls.
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1. Th ... following are characteristic features
c.
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anhritis
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arthritis
0 A it is more common.in females
0 B antinuclear antibody is usually p(!,sitive
0' c methotrexate is the treatment of choice
o o the affected)imb has deceleratedj:rovith'
0 E it is usually seen after the age, of8 years
133
0
0
0
0
0
A
B
C
D
E
skin rash
nail pitting
. . .
antinuclear antibod) positivity
family history of psoriasis
a poor response to methotrexate
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oral ulceration
photosensitivity.
lymphopenia
inflammatory bowel disease
rheumatoid factor positivity
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0 A
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pulmonary lesions '
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17. A Syear-old boy presents with a 2'-month history of rash
around his eyes, an inability to brush his hair, nasal spe'ech, . ~
and he uses Gower's manoeuvre to'get up from the floor. His ....
creatine kinase is normal but his lactate dehydrogeri,ase is '
raised. What is the MOST likely diagnosis'? 1 H : '" ' '
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C Juvenile dermatomyositis
D Myasthenia gravis ''
E Viral myositis
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A Oligoarticular juvenile idiopathic arthritis
B Benign joint hypermobility syndrome., . .
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C Enthesitis-related arthritis.
D Perthes disease
E Reactive arthritis
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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.
. ' .
.
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 al)tigen
(HLA) B27 positive.
(Q-2%).
138.
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Answers: DE
The new c;lassification of juvenile idiopathic arthritis' replaces the old one of
'juvenile chronic/rheumatoid arthritis'. Most patients are negative for
to
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Answers: A CD:
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non-responsive disease or severe anterior uveitis. The affected limbespecially if a knee is affected::.. has acceierated growth. It is usually seen~
under the age of 6 years. It is termed persistent oligo-juvenile idiopathic
arthritis if arthritis is restricted to four joints or less after the firsf6 months of
disease, and extended oligo-juvenile idiopathic arthritis if more than four
joints are affected after the first 6 months of disease.
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Some patients a!e positive for antinuclear antibody, and have a family hist()ry
of psori,asis. The condition respof!dS well methotrexate.
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Answers: B c E
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Rash is usually~around Ufe eyes. associated with oedema, and spares the .1
malar,area. Gottron's papules occur on theextensor 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~ . , , . . ..,
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RHEUMATOLOGY
6.
7.
8.
9.
9. Henocb.:.schorilein purpura
Answers: D
Five days of fever is necessary for the diagnosis. The conjunctiva is red but not
purulent. Thrombocytosis is seen rather than thrombocytopenia. Aneurysms
of the coronary artery and other large arteries are seen in 20%. Cervical
(rather than generalized) lymphadenopathy only is a diagnostic criteria.
Erythema of palms and soles ;with oedema and subsequent peeling are seen.
Erythema of the lips with oral inflammation are also part of the diagnostic
criteria.
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Answer.s: A B CD
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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
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 , ' , '
:e
.
carditis
Polyarthritis ..... ,. ' 1 ' .,
rEi'yth:ema margiriaturn .
Subcutaneclusnodules'"
Chorea 'Ci'- ''t rr: 01 '' ,. ' '.
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Of patients with systemic lupus erythematous, 97% are positi':'~ for
antinuclear antibody. Systemic onset juvenile idiopathic arthritis is not
associated with antinuclear antibody.Ebsrein.;.Barrvifarmrection'- hot'
parlrovirus- is associated with antinuclear antibody. In both scleroderma and
mixed connective tissue disease patients are often antinuclear antibody
positive. Causes of antintJC!ear antibody positivity in children include: , 1
'142
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assigned
.
B each patient has an equal chance of being in any treatment group
C the treatment group is lcnow.n before consc:;nt is obtained ,
.
D although individuals receive:differ~nt treatments. each pati~rit will tie
allocated to the treatment most likely to benefit them
E differences between treatments will be significant
0
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A blinded
B randomised
C systematic
D decided prior to obtaining consent
E performed away from the study centre
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5. Observational studies
A cannot be randomi~ed
B give in ore convin~ing.~'idence of true differences than experimental
studies
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0 C are always large
0 D can never be useful
0 E must be blinded
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STATiSTICS.
I
II
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11. The standard error of an estimate
!':_,.
0 A
0 B
0 ,C
.
,r> depends ~m the ave~~ge Y.aJu~ oft~e ~a~ pie .
E is used. to constiJJct confidence
intervals
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sample(s)
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B lies between-! and +I
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C is more useful than a confidence interval for.interpretingresults
D is the probabiJUy.of obtaining the current sample if the null hypothesis
is true
,.
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E" indicates the clinical significance of any differences seen iD the sample(s)
13. A parametric
correlation
coefficient
.
'
. .
.
. .. ,
~
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A must be positive
.. , ,
Q, B (!fzero indicates no relationship bet\Veen the measurements ,
0 C takes the value I only if the points lie on the line of equality
0 D shows the extent to which two continuous measurements are linearly
related
0 E is negative if there is no association
d47
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E there needs to be a control group to corriparethese villueswith
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A sensitivity
B. specificity
C likelihood ratio
D positive predictive value
E proportion of false positives
upper
. upper decile)
the sensitivity of femur length in the upper decile for 'diagnosing Down
synd_rome is 30/55
D of those with measurements in the upper decile 1110St will not have . '
Down syndrome
0 C
0
0
,.
148
onJy
STATISTICS
0
0
0
0
0
..
C the difference observed would have occurred oy chance I time in 20 if
there really was no treatment effect
\.
D randomisation to groups was not successful
E the Hest would not have been appropriate if the blood pressure'
. ., measurements were skew .
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between groups
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chi-square could be,used to test the significance of the. differences in
proportions that were positive in the two groups
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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 ..
. standarddeviation (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
<" '
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.
.
appropriate course of action based on this stUdy?
0
0
0
0
0
'
'
A Do nothing further- the study has shown the new diet is riot
statistically significantly better than current practice
0 A
0 'B
0 C
0 D
0 E
ISO
groups (Kruskai-Wallis)
STATISTICS
.c
25. What is the BEST re~son why co11current control groups are
useful when performing studies?
0
O
0
0
A They allow the use of statistical tests for the comparison of two groups
(eg two sample Hests)
'-
:
B They help to ensure that any differences seen are due to the treatment
or disease being studied
c They allow the study to be blinded
D They help boost the overall numbers studied
E They are better than historical con trois
'
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
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ESSENTIAL QUESTIONS
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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,
0
0
0
I. Those allocated to the new cream have ah average rating of 5:4 '
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%
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
.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 severityrating .
(-2.4) was (-i6, -1.2). p < 0.0005.
'
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Sensitivity
. Speci~city
c f'ositive predictive value
D
Negative pje.cJictive value
E
False-positive rate
F False-negative rate
G Positive.likeUhood ratio
H Negative likelihood ratio
I.
Percentage correctly:classified
J the preva!ence ofml~carri(lge '
During the first trimester of pregnancy, 400 women. at high risk ofmiscarriage
halle.ultr:asound measurements ofnuchalfold thickness. Subsequently, 80 of
these women miscarry. 100 women hadabnormalnuchalfoldvalues.
Considering abnormal nuchalfold thickness as a potential diagnostic test for
miscarriage in this group, which ofthe above items has a value of 75%?.Each
option may be used once, more than once, or not at all.
0
0
0
153
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1. Randomisati_on
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in a trial ,
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Allocation to treatments should be random rather. than systematic to avoid
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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' aliocatran but'the other ooeS:"bouoleblind means that neither knows about it. '
3. Sodal class
as a confounder .
Answers: C E
154
l
. STATISTH:s
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FO~
MRCPCH
7. categoric variables. .
Answers: B DE
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AnS\\'ers.: A B C
.
and wiU be mid-way between the extreme values of the distribution. When data
are skew then the mean is pulled in the direction of the ~kew, away from the ,
..~.mediaR,.SI<ew is named according-tothe-direction~ofthe outlying tail. For the
oxygenation index. the mean is larger than the median and both are much
doser to the lowest value of 2 than to the highest value of 250. Hence it is
reasonable to assu)'Tlethat most individuals have relatively low oxygenation .,
values and there are a few with high values that have a large influence on the .
mean (making it much larger than the median). The mean is influenced by a .
few large values, so it is not representative of the bulk of the values- the
median is a much better measure of what is average or representative of most
indhiduals. No measure of the precision of the estimates of mean and median
are ghen. The precision will depend on the sample size. Hence the group of 30
children may or may not give adequate information- we would need to
'
estimate the precision and see whether this is suitable for.our needs: If greater
precision is required then a larger sample would have to be taken: Reliability is
the e:x1ent to which the measurements would be replicated if taken again (eg at
tl56
STATISTICS
a different time or by a different assessor). The valu~s.given are,based on a
single measurement in each child and this gives us no informatiof! about
' reliability.
Normally distributed data are symmetric and therefo're not skew. Since the 1
measurements are approximately normally distributed, then we would expect
about 95% of them to lie within a range mean 2 standard deviations (97
2(5) = 97 10 = 87, 107). The standard error is calculated as the standard
deviation divided by the square root of the sample size and the interval.(mean
2 standard errors) is an approximate 9S% confidence interval for the '
population mean. Hence, for this sample, standard ,error = 5/11(1 00) = 5/10 =
0.5 and a 95% confidence interval is given by (97 . 2(0.5)) = (97 l ). = (96, .
98). The confidence interVal gives the range ofpopulation values that the . ,..
sample data are compatible with. In this case the interval (96, 98) excludes the
expected meanofu)o found amongst normalchn'dren. Hence the mean IQ in
the sample is significantly different from.! oo.
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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
..
.-;,,
...
-:
tn
.C
( .
~.) \-
\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. '
.>.:~"'-Anslver.:D
_,
. ns
. Answers; A C
made.
cD
If heavier children have lower hmg functions then as weight lnc~ease~ lung
function will tend to decrease, 'so thecorrelation.bet\veen these two variables ,
will be negative. Tnis is an observational study and measurements are Only
,
made once on each child. 'Hence, whi.ist there is relationship between'the. - ,,
variables; there is no evidence that.if individual children change their Weight
that this\'llill result in a change of lung function. The relationship observed
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 EIase is the proportion of the p<:>ptilation wi ttl the' ' :_~,A
disease.'Tiiesertsitfvi.ty of a screening test is the proportiOn of those. with:!. 3 1:
diseaSe who screen positive. Therefore, because it is based solely on those
'
--
"
,_,.~
'.
oe
"
,:\:
'
t . ,
.:-,
'
.:.Yes
Yes
: 25 .
No
30
.Totat.
No
Total
....
70
500
159
ES~ENTIAL
...
. ,..
~ -'
Yes
..
-~
'\
.. Down syndrome
Total. -. ~
Yes.
'
...
.,
)"
,.
45
'70 '
'
,.30 ,. t
No
...
Total
ss
t.
'
445.
"'
... '
... 500
' .,
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.
., ,
' ,
'.;.
'
I .,,..
'
18. Treatment
for, blood.
pressure
~
li'.\
.....
;
.
-
'f
Y,
\.
'
;t;l::l
+ :
'
'~
.;1~
~-
, / ' .,
"t _;
;:"'1~-.-
't., ;
""':c l~
!~"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.=
.t
' \
t ..
':
,:
.i
.J:..-,'-'-... lt 1 :.;~;.t'
l
,,...
1
".,.f
..
~ "".~ -t
, .. ,,
""
differences in proportions.
-
-
t- .,. ..
~~
.
-~
--
. l
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.
.. _;,,
The per :::eritage suffering from an adverse event. fell from 40% to 20%, hence .
the reduction was 20%. With a 20% fall this means that an extra five
individuals would need to receive intensified care for one to avoid a.n adverse
event. Hence the number needed to treat (NNT) is 5. A confidence interval
around the percentage reduction (20%) will take into account the sample size .
-the greater the sample size the more precise the estimate ofthe difference
attributable to intensified care and the narrower the confidence interval. The
relative risl<~is given by: the risk in tne. !ntenslfied ~regroup divided by the
risk in the standard care group (20 ~ 40 = 0.5)~ If the groups (standard and
intensified care) differ in their age distribution ahd age affects outcome.
(adverse event yestno) then age would. be a confounder in the comparison.
161
:I
~~:~t[j
W
">,
c;n
fa
.
.:
The average Improvel'l)ent seen is clinically relevant so we would not just want
to discount the information because it is statistically non-significant. The
confidence intenal for the difference is wide and shows that the data are
compatible with the nev, dietary regimen having no effect, or an adverse effect
on height .. and also with clinically relevant improvements (up to ~ .2 sd
'
scores). Because the diet could be associated with a detrimental or zero effect
. based,en the study results. it would not be reasonable to introduce it as '
standard pufely because the average effect iS gocd. The children could be
followed for longer to see whether. the effettbecomes larger and statisticall)
significant but this would not answer the question of whether an
.,
improvement can pe see'! o;er. 2 years. Sd scores are us~;~ ally normally
distributed. so it .is unlikely...: although 1;10t impossible- tha,t non-param~tric,
methods \vould be neerted. The normality of the scores should have been . "
verified prior to pa'rameti'ic testing.~A 'larger trlal would enable a more precise
estimate of the effect of the new diet over'a2-year period to be obtained and
this would be the bes'tcourse of action '(o is the 'most correct ans\~c:;r). , . .
"-
.',
'
'
. J
__ l
.
STATISTICS,
----------------~--------------~~----attributed to the treatment or disease. If the groups ~re,blin(l to treatment .
then treatment knowledge does not differ bet\veen groups apd se this is a
similarity that we want to have (Where ethically and feasibly possiOie).'
26.
A reference range aims to give information on the values of CD4 found amo~g
normal non-diseased children. It consists of a series of centile values. Since
. CD4 count changes throughoutchildhood the range should be age-related. In
order to construct precise .ranges, quite large groups ofchildren will be
needed as we are often interested in extreme centiles (the 5th and t>eyond).
Often the 5th centile is used as a cut-offto define abnormality or cause for .,_ .
further investigation. By definition. 5% of normal healthy.~ndividuals wili lie ;
on or below the 5th centile. Hence the specificity of a test which uses the 5th ~
centile as a cut-offwillbe 95%: thus, 9.5% of those without disease (healthy,,
normal. children like those on whom the reference was based)
have values
above the Sth centile and will test ;negative'. The sensitivity of a reference' :
range to detect disease will vary according to the disease. The purpose of the
reference range is to allow the CD4 counts of individual children to be
compared to what is expected for normal children of that age. If the aim was
to compare a group of children With disease to a group of non-diseased
children then these non-diseased'children shOuld be coneurrently measured.
Referenc~ ranges are,pot recom~ended as a substitute for control groups in
trials, rather as assessment tools for individual children, lhe most correct
answer is therefore D.
will
161
I l
'
,,,
, .\ ,;
2. H.:..chi-square : '''
.-.
. . ; .
There are two groups ofchildren (those admitted to intensive care and those
who are not) ..Hence a two-sample test for comparison'between groups is
appropria'te (two sample Hest. paired t-test; Mann-Whitney Utest. or. chi-: ,
squar<;:): outcome' is binary.that is categoric, With-two categories. . " -.
(developmentally delayed: yes/no). :rhe proportion with developmental delay 1
is to be compared between those admitted to intensive care or nothThe. ,
appropriatetest forc?rripanng proportions between two groups is chi-square.
3. D-One-way analysis of variance.
_, .
,
.,
There are four groups of children to be compared (from different racial ,
backgrounds). Hence a test for simultaneous comparison between more than
two groups is appropriate (one-way analysis ofvariance,K:rUskai~WaHis
analysis of variance, or Chi-square). The outcome (blood pressure)'is. ;
continuous (hence chi-square is not appropriate) and normally distributed
and hence parametric 'testing should be used (eg one-way analysis of ' l
variance).
' . '-'
r '~
1 .
<'
'("
, I
'
'
'
,.
:1t
,.:t ~, ~-. ',
t.
The differerke is statistically significant since the p value(< 0.0005}is smalL.
The average fall of 2.4 points on the severity scale is larger than deemed sufficient to be of clinical importance. However, the confidence interval shows
that the data are compatible with a difference of between 1.2 and 3.6 points.
l
164
-. STATISTICS
The best way to proceed with a question such as this is to construct the 2 x 2
table of screen result against outcome. The data given is as follows:
Miscarriage
Nuchal fold abnormal
Yes
Total
No
Yes
100
No
Total
80
400
165
; ...... ,, .
. .. :.,
..
~ .
?' .--
~<
, ,,,Yes
Yes
., 40
t ,j
No.
b ... ~
'!.
..
Miscarriage
No
. ..
'f . . .
"1
"
1-.,,
400
80
'"'+
"'".5
J
Total
J . - .. Total
,~/
)._J
"
,(
..
--
Yes
'
40
...
'
'
..
.,
60
260.
so.
Total
"
i_,.
No
-<
40,,
..
..
Miscarriage
,.
320
;, ...
..
300
400
100
..,
1 "''
'
'
.. '_...
i
;'
...
'
'
' \
'""!"_- ......... -
f ".. , t} .. ~i,f
. <t,
.i~u~~
;,. l;
~- . ... .
b
l'
.... '
.r , ;\
'!"
~-:
Ct \ ,.- 1
-t
f. '
'
166
.'~
't
STATISTICS
2.
Total
Miscarriage
Nuchal fold abnormal
Yes
Yes
75
;P,-
No
Total
No
100
'
. 400 .
80
..
Yes
Yes
75'
5
No
Total
80
Total
~
No
25 ...
295
' 320
'
lOO
300
. 400
ESSENTiAL
3.
A- Sensitivity
Yes
60
Yes
No
Total
..
. . 80
..
.
.
No
-..
.
..
'
'
100
' '
400
,.
'
Nuchal fold abnormai
'
\
Yes
Total
No
Miscarriage
Yes
..
60
. Total ,,
No
t
40
20
280
80
320
..
tOO
300
..
..
400
, , ;:
False negative rate is 20/300 = 7% .
,;
,..
Positive likelihood ratio is 75/( I 00- specifiCitY} = 6.25
Negative likelihood ratio is (I 00- l5}/specificity = g28 .
Percentage correctly classified is (60 + 280}/400 = 859{> .
The prevalence of miscarriage is 80/400 20%
I
I
I
!
\
,-
-~
'
'
..-,
This Index covers Volume I and Volume IL .The volumes are i!ldi,cated
roman numerals, 1 and
,/~ I
n:
..
,['.
:: ,
,
acetoacetate t:76
' '
. , adrenaline (epinephrine) (u:2,.12, 114,.1 17,
1
acetylcholine(i1:93;9sj. . .n~, '' '
.
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
,! .
:' ~"'
i '' ... '
afebrile seizures (11:24, 93)
" .
acne t55, 65
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
ll.;
\'
169
~SSENTIAL
amniotocele [u: I I I)
.
.
amoxicillin therapy [11:45. 47. 55)
Amoxill:l7S [n:7)
'
amphetamines 1: 11
.
amphoteriein't:l61 (11:711
ampicillin 1:.1 78
.
amylase levels 1:33
,,.
amyloidosis (11:83)
amylppectin [u:32) ' ;
,. t
anaem1a 1:33, 164. l6S,(11:l8, 71. 76, .130,
136)
.,
antf:'oNA antibodies
autoimmune haemolj1ic 1: 148, 156
feta'la: 139
""
'
anti-endomysia! antibody 1:117
fetomaternal bleeding [n:53)
anti-epileptic d[Ugs [u:83, 87. 93) see also
haemolytic 1:148. 162, 167, 174(11:31, 141)
specific drugs
hereditary haemolytic 1~147, ISS [n:27. 3S)
antifungal therapy [11:126, 131}
antiglobulin test 1: IS6
hypochromic mkrcicytic 1:124, 147; ISS,
'161 [i1:63)
.
.
'
antihelminthic drugs [n: II OJ
antihistamines [11:109, 12S)
. iron deficiency 1:114, l24.a'47, ISS, 161,
162 (11:28, 40. 60, 74) . .
anti-lgA antibodies 1:174,
microcytic hypochromic 1:147, ISS, 161
,, anti-lgE therapy [1i: 1281
neonatal [11:42)
170
II
I
\
I
I
I
Ill:
\
\
I
I
.. ,
:j""'
,..,
-<--
:~
_, _ _ _.,. .... ,
.?.~
' . ~.
.._#
~~:'~~-";r-"\.
_ .......
..
~J
<t
. : ..
,.~,.,:'"' ~
_..
~~
1'
.....
INDEX
1..
Bartonellahenselaeinfection~:168,175[11:4]
oligoarticular [11:133; 139.;,140, i44]. '' ,~o
Bartter syndrome (11:59, 66, 73, 77, 78) .
polyarticular [n:I33, 139, 142)' .,
'" .,_ . basal ganglion lesions [11:97]
' : -~"
"o''~-~'l~syst~miconset(II:.J33,136.139, 143] : baseexcess[u:8,24,68]
,:,; ~
arthropathy, psoriatic 1:54, 63
~ ., , , baseline peiinjetry;[11:112]
' . .. ,.
asparaginase 1: ISO. 160
Batten's disease [11:96)
.. ' , .;: , -~
aspartate-aminotransferase [n:IO] -' , ' ..-., :
B cell
r. F .. .
Aspergil/usinfection[n:I20-121,:126, ]'3Ir '
immunefunctionl:l77 . , : .6
asphyxiating thor;~cic dystrophy (11:59) :
lymphoma. 1:154:
' ''
Beau's linesl:64
_.,, .. .
.. ,
aspira&ion pneumonia 1:32
aspirin (salicylic acid) 1:15.68 [11;1.23).
'Becker muscular dyStrophy-1:127; 134; 13( .
assist~d ventilation [11:42, 45]
~~
136, 143. 144 (11:143].
.~~. ~
asthma [11:18, 119, 121. 123, 129. 130. 13l)'j
Beck\vith-Weidernannsyndrome 1:79,91,
allergic [n:l25,.126. 131]
"
'
128, 138.;I50. 154, 160,164.[n:I24).
in clinical stu'dies [11:146, 148, 149. 155, '
, beclometasone dipropiorlate therapy in: 121.
158-;159, 160]-.
.,,,,...
,,,,(,
131)
astigmatism [11:108) ,
Behc;et syndrome 1:lll, Ill. 120
!. \
"':a_ ;
...
171
f.
I
I
birthmark,s !:54-55,!,64
bladder disorders 1:99. 103
Blalock.-Taussig shunt 1:2, 4, {1. 13. 16. 18
Blaschk.o's lines 1:60, 142
bleeding diathesis 1: ISO
bleeding disorders ~-:153. 158~ 163 (n~53J
bleeding time 1: 153.n 63
'
blinded clinical studies (II: 146. 154, 155)
blind loop syndrome (bacterial overgrowthi '
1:109, 118 (11:109) .
blistering disorders 1:59--60,-62; 69 ''; '
blood-brain barrier 1:40,45,46. 51. (li:J40)
blood
clotting disorders 1:139 (11: 18]
clotting fa.:: tors 1:149. 153, ISS, 163
coagulation U49. 153. 158, 162, 163, J 78
coagulation \'alues 1:153
coagulopathy {u:35J
culture 1:161 (11:100) \
gas analysis {u:l7, 18, ,19.--24~ 128)" ~~ d
group compatibility (n:42) 5e1: also ABO
blood groups .
172
; 'l
pressure (II: 1o, 62. 63, 64; 65, 66, 681 see
also hypertension
'in clinical studies [11:149, 152, 160, 164)
maternal 1:73, S3
raised (11:71, 125, 128!
sampling t:148, 156111:281
transfusion 1:148, 149,'149. 156, 158, 174
Bloom syndrome r:57, 59, 62. 68. 69
BM stick. (n: I 7J
Bock.dalek type diaphragmatic hernia [11:4 7]
body mass index (defined) 1:1 13
bone
,
.age ~:79.
destruction (n: 123]
disease of prematurity 1:84
marrow aspiration 1:155
marrOW blastS (It: 138)
marrow transplantation 1:32, 147. 156, 175
(11:18. 29. 129)
mass. peak r: 73, 84
metabolism 1:73; 73, 84
pain !:164, 165!11:20)
resorption (11:74) '
bony dysplasia (11:81, 89)
boot -shaped heart 1: 18
Bcrrelia burgdoiferiinfection see Lyme
disease
\;
'
BOtulism, infantilt(11:85. 95]
boVine spongifornf encephalopathy (BSE)
1:177
bowel
abnormality 1: I Q4
inflammation 1:124
wall lesions r: I I I
brachial plexus inJury (It: SO]
bradycardia t:32[u:'<.l, 11, 20, 45)
brain
biopsy (u:97)
dysgenesis 1:35
hainatoma (11:90] .
.
tumolirsd5g..:l59 (1~:82, 128)
branched"chainamino adds (u:34Jbranched-chain fatty acids (11:32)
..
branching enzyme deficiency {GSD IV) (11:24,
32)
. ;"''
breast
canc::err:l34.134, 144
development 1:8!, 88 .
feeding 1:169. 178 (n:I.S, 22. 30, 33. 48, 52,
53)
milk. (n:40. 52) .
.
breathlessness 1:6, 9, 16. 17 [11: 11. i 21 1
breath testing 1: I 16, 1 18, 125
British Thoracic Society asthma guidelines
(11:131)
broad spectrum antibiotics 1:161 (11:55]
- ----~ -- _j
INDEX
PC .,
Caesaria.1 section [11:15; 47]
w
ca'fe-au-lait patches 1:87, 128, 133:' 138, 142.
143, 144 (11:891
caffeine 1:48
'
calcification 1:14 [11:90, 93J-'"'-" '
caldtrioll:84
A> "
:c'
..
'
absoi-ption 1:119 . it
deficient COGs [11:31)
dig'estion abnormality .-:'125'
intolerance [11:124, I25l
ca~~~~~
n.
high-output 1:103
neonatalr:I7. 20
right-sided r: 12, 13
CardiaC
~f
~~
t.~.., ~,.
lesions[n:l271
output 1:13, 15 [II: 1261 . .,j
cardiologyl:l-IO,II...:21 '-':.<"11'(. .., t,
cardiomegaly a:9. II (II: 17]
q
t'
cardiomyopathy 1:11: 15 [n:32, 54;59, 81)'
cardiotoxicity {anthracycline)i:lSd 11, '
cardiovascular surgery 1:1, 2. 11; 12,16,
17, 18
: l ' c' -",'. ' ..
cardioversion 1:!2 1' o ' : ' -t~-- ' ":
carditis(n:I9, 1421 ' --
'...
,.
173
~.
chromosome 12,1:139
MMR vaccination 1:32
chromosome 15,1:138 . chromosOme 16(il:i2. 90)
sideefrects 1:151. 160,.161
chromosome 18(11:39, 44. 49 . 54, !07),
in varicella patients 1: 170; 118; .
chromosome 20, 1: 145 .
.. . ... .
. -t - , ,
chromosome 21. r:l39.140, 143
hyperinflation [n:I)!J,.I27.'13.1)
., .. ,
[11:46. 124] . '
..
movementscbreathing) [11:128]
, , chromosome 22, 1: 14. 129, 140, I ; 2.
.
180 [t1:54}
.
pain [u:7, 95. IQ3,118J.
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 , - . . ,
chronic bullous disease of childhood 1: :9,
community medicine t:?J.-.29.
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
.chylo~icronsl:ll9, 12, .. ; .
,. ,
- > ,164}
,, , .
e
I
cicatrix formation 1:105
Chlamydia infection [11:18, 45, ss: 101~ 108,
""
.
. ' 110, liii
ciliary beat frequencyin:l27)
chloramphenicoll:40,43, 45, 48, so
ciliary.brushing [11:129]
chloride
. ' .
..,
cimetidine ingestion 1:100
,
ciprofh:ixacin therapy 1(179 [u: t'5J.
diarrhoea [ti: 771 .
,
. 165)
. . .
..
le\els 1:125 [!1:23, 28, 31, 32, 69, 73]
also hyperch?lesterolaemia
clinical trial allocation ofgroups[u:t4.5, 14.
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
chorea [n:I42J
see
see
'
174
_[
'
COAL (cysteine, ornithine, arginine, lysine)
loss (11:30)
coarctation of the aorta 1:2, 4, 7, 12, 16, 18,
19, 87(11:76]
cobalamin (Vitamin B 11)1: 110 [n:29J
cocaine use (maternal) [11:39, 49]
Cockayne syndrome r:57, 59, 68
cocktail party inanner 1:14, 141
coeliac disease 1:109. 112; 115, 117. 121, 125,
.
134, 144, 167
cognitive (intellectual) impairrilent r:i5, 34
(11:78, 92)
coliform bacteria [11: 16]
colitis 1:ll8; 121 '
collodion baby J:54. 54, 62{11: 109) _.
co1obon _lin CHARGE association [ri:54]
colonoscopy 1!120
colour blindness (11:105, 112]
colour recognition 1:25, 28, 31, 34
coma (11:86, 96]
- .INDEX
parental!: 106
written 1:106
constipation 1:25,33, 112. 115, 118, 121. 125
see
i:
J' ~
175
ES~ENTI.:..L
176
.... , ; I
De Morsier syndrome
septo-Qptic
dysplasia
dental disea5e 1:14,31, 57;68, 84 :,.
Deny's orash syndrome ~:164
, . . ,
deoxyribonucleoside triphgsphates 1:176.
depression ;: i. 35
see
- j ---
. . ' .....
107}
.
mellitus 1: I L 70, 71, 80, .87. , 09. II 7, 123
[11:115127) .
" ' ' ' ...
transient neonatalt:l38
dialysis
, ,
renall:41, '48 (u:60. 73]
,.
Dianette t65", _ .
. .
.
diaphra, matichernia 1:95,103 [i::-;..;,541,
Bockd<:lek type '[11:4 7)
congenitall:95 [u:38, 4~. _48],
;._.
. -,
left-sided [11:38, 4 7]
. Morgagni [11:47]
.
diaphragm~tic palsy (11:501 ,, .. t., ,.. t'
.
. diarrhoeat:2,"10,34,67, 120,121. 165[11:80)bacterial ~:110, i 12.' Uljr11: I, I ij
'
bJoOdit:l)"s. tiB~~l2t.'".
',f( ..
chronicl:lll[11:64]
, .. _,
congenital chloride [11:77]
dysentery [n:l4]
immunodeficiency 1: I 73, 181
neonataltlll
persistent [n:20l
rehydration therapy (11:2, 121
viral infections 1:172, 180 (II: I]
;.vatery 1: 1J 6
diazepam ~:40, 48
,,.
diencephalon [11:9Sj
'diet' drinks, phenylalanine conte;,t 1~:30]
Di George syndrom~ 1:_24
.. '
disaccharidase acthity t:109. H&:. 119, 121
.,.
thiazide 1:49. 74 [u:721 , ,
dizziness (drug-induceq} [11:93]
DMSA scanju:6, 17, 77)
. ,,)
DNA, ,
.; -.
cleavage 1:177:
;.;;r~ 1,..
expansionl:l76
.
.
~:.
donor compatibility 1:168, I 76 [11:42, 45; 55)
dopa-responsive dystonia see Segawa '
disease,. .
~- ... --.
Dovonex ~:66
.. ,. ,- ,.
Down syndrome 1:1. 2. 85, 130.132, 139; 140,.
1'77
ESSENTIA.:..
QuESTIONS . FOR- MRCPCH
'
- '".
'
..
*~
'
dysostosis multiplex (n:35)
dyspnoea (11:117. 121)'
:J:: '
dysrh)1hJI1ia !:10. 10, 20....21 1 t
1
I ~ , " .
dystonia (n:SS. 97]
dystrophia myo~onica protein kinase !:137
dyslrophin 1:136: 143, 144 (lf:91)
'
ear disorders 1:25.34 (11:44, 54.' 1.41) see also
heaiingimpairmeri't' : ; . 1-'1:{
.
Ebstein's ancimoly 1:7, II, 18
.
.' .
'
'
' .
enzyme replacement .therapy (11:29) .
eosinophilSI:9. IO.IS7(1t:20J .
~ eplbulbar dermoid cyst[u:5'4J . . .
epidermolysis bullosa' 1:53: 55, 59. 62, 6-L 69
'epilepsy
:
~
.
.
"
abscence (n:S7;'96) .
' .
benign childhood (roiandic) [u:84. 93)
COmpJex partial l:ii, 35[1!:87) I
, ,
drug therap\' [u:83, 87. 93, 96;'105, I h1
epilepsy syndromes Iil:87.'96-91J ~
generalised [n:82, 96) 1
~ '
maternall:l. 11
myoclonic (1::96]
noctur!lill front lobe (u:82J '
reflex anoxic 1:35
sub-clinical r:34
tonic-clonic [u:87. 961
epistaxis 1:163
..
Epstein-Barr \irus (EBVl. infection r: 167, t74,
175 [n:J I. 122. 142)~
equinovarus deformity (11:88) .
Erb's palsy (u:39. 50)
'
erectiledJSfun-ction 1:100.
erythema (em:hematous lesions) (u:9J .
. Gar4ioifasc-Utar-diseaser:-14 ~ ... -- -'-- ,_
causative factors r:54
differential diagnosis 1:56,57,61, 62, 69
rheumatologic disease (n:I41J
'
erythemainfectiosumseeparvovlrusBI9''
infection '
erythema
marginatum 1:63 [u: 142).
migrans t54, 63 [n: 19)
multiforme r:63, 67, 69
neonatorum 1:54, 63
.
nodosum 1:54, 63, 168:175 [n: 113; 122.
.129. 140)
toxic 1:63
eiythroblastic leukaemia 1:1 so. 159
erythrOC)1e sedimentation rate {ESR)'I:9. 136,
138. 139. 142, 144
.j
INDEX
erythromycin
resistance 1:64
therapy 1:1-7Sfll:4s. ss;
wL
erythropoietin 1: l S6(n:74)
1081
' " _.
eye
'
eyelid
cellulitis [II: 108)
nodule [11:104) '
swelling [11: 102, 104}.
FAB classification 1:159
Fabry disease [n:28]
facial
asymmetry [11:44, S~J
choreoathetosis (n:88] :
diplegia 1:137
fat
absorption ,:119, 125
content (breast milk} [11:40)
content (neonatal body) t:47
fatigue 1:27~ 35~ 8~89. 1.14
~--.
oxidation (11:23, 32, 34r .
oxidation defects 1:28-29. (u:21, 34]
synthesis [11;33] . .
... : ..
febrile neutropenic episodes 1:151' 161
febrile selzureS/conwlsions !:32, 112; 180
[11:82-83 92] '
.
feeding ability (normal) 1:26.
feeding disorders [11:25, 129]
co<Jrctation of the aorta 1:16
differential diagnosis 1:35--:-3~ """ , .
feeding difficulty (u:ll]
hyponatraemia (n:67]
liver failure (n:27)
fetal
alcohol syndrome ju:39, 49. 54).
haemoglopin (11:49]
heandiseaset:l, ll,IS
lung growth (11:46]
movements 1: 137(n:42, 94i
renal disease [u:46]
seizures (u:46J
1.1rine production [n:46)
fetomaternal bleeding (u:53]
librillin gene 1:141
fibrin 1:158
fibrinogen r: 149, 153, 158, 163
fibroblast growth factor receptor gene
(FGFR3) 1:128. 138
Fick's Jaw (11:122, 123]
.
.
fifth disease see parvovirus B19 infection
..
179
f. ,-~f:',
t , :\~\'
t1:
f
f;_
-_ C::'"
ESSENTI~.:.
,: l
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]
as.
,r 1
180
------'-~
_I_
INDEX-
.
'
group A streptococcal infection [1i: 135, 142]
group B streptococcal (GBS) infection [11: 18)
growth 1:83
growth disorders see also failure to thrive;
'
. short stature; tall stature
childhood malignancy 1:168
,)
coeliac disease 1:88'
i,:'
growth failure 1:68
growth retardation 1:1 76 \
maternal PKU [11:33] -
-, .....
j,
puberty 1:81
.
trisomy 1:18 (11:54)
grO\Vth hormone ((:;Hi '
.
deficiency 1:73, 74. 79, 83; 85. 88,'144
provocation test 1:72, 82
. '.
181
I
1
!
i
Al:l53, 163
B (Christmas disease) 1:135, 145, 163
Haemophilus infection (Haemophilus
injluenzaei i~23, 30, 178.(11:4. 14;' I 08)
differential diagnosis 1: 179 [11: 18. 11 OJ
Gram stain [11:5, 16)
haemorrhagic disease of the newborn t:.l63
(11:38, 4:l. 48. 53],,
.. f.
haemorrhag1c fever, \1ral (u:l4)
haerri synthesis t:148. 156:-157
hair disorders 1:86, 87.[11:93, 108) see also
alopecia
.
, ,
Ha!lervorden-Spatz syndrome [11:88.,97]
hamartoma !retinal) (11:8l)
hamar,t'2matous j)<>Jyps 1: I I 7
.
hand flaJ?ping .1:26 ,
hand. foot and mouth disease 1:54. 63, 68
{11:16]
happy puppet syndrome t:l8, 35
Harrison sulcus [11:118)
Hartnup disease 1:61 ,, . ,
headache
'!.I .,.
cluster [11:86. 95]
. ,
diarrhoea [n:63)
1
differen~ial diagnosis 1:27 (11;7, II. 74; 85.
118, 129}
drug; induced (11:93]
migraine ::118, 121 (11:86, 95)
morning [a:84. 128}
non-imported UK infectious diseases
(11:191
.
tension (t::95)
\1ral infections 1:1 72
head injury:: IS
head size 1:26. 34, 73, 84, 138 [11:911
head till[u: J I I I
hearing impairment 1:25, 34, 57. 68 (n:S. 15,
17. 77. 108}
heart
,..
.
block 1:4. II. 15--16, 134, 143, 144 [11:109]
contractiiity (11: 125}
.
182
'
hepatosplenomegaly 1: 7.9. 88 (u:54, I 30)
hepatotoxi<;ity 1:49 [n:93,125) ,
hereditary ,haemolytic anaemia 1:14 7; ISS ..
[11:21.' 35)
c
,.
, ,
I
.,_
herniotomv 1:94. 98
'l
herpes-infections 1:11. 59 [u:I3J see also
human herpes \1rus
herpes simplex \1rus (HSV) infection
differential diagnosis 1:57, 69. I 72 [n: 12)
disseminated HSV infection 1:18-19,48
features ~:58;63. 180 [11:99. II OJ
gingivostomatitis 1:6 7
neonatal infection [11:8}
herpes zoster 1:110
heterochromia [II: I 06]
hexose monophosph<lle shunt r: 155
high altitude. effect on uterine growth Jn:SO]
high birth weight 1:88
hilar lymphadenopathy [u: 130] .
L~
If:.'-
,
hyperbilirubinaemia 1:68, 1 i 8 (n:49. 90)
conjugated (11:23. 31, 38, 46. 481
unconjugated [11:31, 46] ;
hypercalcaemiat:l4, 141(11:73]
hypercarotenaemia 1:33 f11:901
hyperchloraemia [11:39, 50]
hypercholesterolaemia 1:25, 33 (11:32)
hyperekplexia [11:821
'
.
hyperglycaemia [11:23, 32,125) .
<
'<
,,
hypoparathyroidism [n:50]
~
.....
.
.
ichthyosis \'Uigaris 1:62. 65'
,.
icteric sclerae (n: t 07]" .
]l:nmigrant status 1:24, 31 . ' - . ' '
immune cell rrioli!it}IJ:168'.~!; ,., ' :: ,
imm'l.me reactive 1trypsi'nogent-l: 127; 13-7
immdbe system dysfunction ~:4. i6 '
immunodeficien6vJ:I62; 173, 175: 18~181'
fi1: 13, 92. 1
~
111
innrlilno81obU1i~ '
.
.. ~~
A complexes [li: 134. 141 f''', .. '
A deliciencv !:109. 117, 167.~174 (n:63]'< ,t
Anephropathy(n:57. 63, 70h7l ' ,:-, , ' ""
E (11:12Q-1'21,"125, 126, 131)' ~-t', ~--:
Gt:156 '
~-- I '
G antibodies (r:: lOBJ
. " " ''r
Mantibodies [H: 1OSJ
' , , - ,_
synthesls..(n:90}' _:
, therapy i: 14--' 15,- I 78
immunology 1:167-173, I 74-181 1 ' i!
immunosuppression inpeplirotic S)~drorrie'
(11:69)
\ ,.f _,. ' ' e-"1
immunosuppresSive therapy 1:32 [!I: IS) +
impaired sperm motility (11: 127]
"L
impetigo [ir: 12]
impulsiveness 1:3 I.
~
inborn errors of metabolism [il:2L 26; 28,'31,
fo"
oir'
34jr).
i~ .,:J
, .:
' \
?O,
<r_.",r.~
'
,
' ' '
' .,:
release (i!:l25J
resistance 1:86, 88
tolerance tesn:78, s2;9o '
.
. intellectual impairmenli:Z5, 34[i1:78)see'
also mentatde~eJopment~ {;--
intelligencetests (IQ) (1i:l47, 151,157, 163]
inten~ive chemoth~tapy-induced .' '
.
'i!hmunoddticilncy 1:1 70
1
interferon-a therapy 1:179.
''
interlf:ukini ~t:84 [ti:4, 16]'
~"
interletlkin-12 1:179. :
' '
interle_ukin-6jnA, 16) . ; : '
international normalised ratio (lNRJ i:l49.
153.'158. 162-163[11:271 "'
'
-' '
intravenous
antibiotic therapy 1:56, 66[11: I ()OJ "
cannulation 1:56 !
Ouid therapv.r67 ' r '
I 1.1.
. ,
gamma globulin (!VJG) therapy' 1: I 4-15
line llushil'lg 1:46,'52
:,
'
.,
..
pyelography 1~: 1iJ
intussusception 1:93,97,98-99. 105, 106, 'I''
112,122(11:141) , ' .
'
,,'
growth
_j__ -~ --~
?'. : r~ ', -. '
~
'
...
&
[.
:'
(
~-.
Kruskal-\\'altis
t<Est[u:l50,
162,
1641
' -1
*"'
,,
Kugelberg-Welander disease )u:85; 941-"
iron
. ,.
" ' '
' "kyphosis 1:84
absorption 1:119. 1.24 ..
laboratory imestigations 1:1 72
chelation ,a:SO : .
. ., ....
labour (prolonged) 1:55, 65 ' 1
containing pigme11ts (11:97), ""
! , .
lactasetll9
''
.. '.'
ingestion 1:41, 41 .. 49, 49-50
.
laCtate dehydrogenase (u: 134, 136, 140, 143)''
__ Jevelsl:114. 155~eealso'!naemi(, ~-;~:.:
lactate levels [u:23, 24, 25, 32, 33, 68)see
1rrad1ated b.lood transfusio!"' 1: 1,4
' .
islet cell antibodies 1:80
also hyperlactataemia
'
lactose-free diet 1:125 (11:34)'
isohaemagglutinins 1:156, IS
"
isoleucine (u:34J . ,,
..
lactose hydrolysis 1: II 0
Lamberts-Eaton myasthaeriia [i1:82)
isoniazid ~:41~ 49~ 111..171. 179 [n:s. 17,-J'rs;
lamivudine 1:179
- '
125, 130)
'" :
'.
lamotrigine (11:83, 93,:96]
'
';
isopre.nann,e t:4
..
isotretinoin therapy t:65 .
Landau-Kleffner syndrome 1:34. 36 [11:87;' '96-97) - 1>~ "
;
itraconazole (11:126, 131)
'
Ixodes (tick) 1:63, 175 (n: 12, 19, 94J
'Langerhans
histiocytosis 1:53, 62 language development 1:26,28, 34, 36(11:961
Janeway lesions [u:-191
lanugo 1:25, 33'
jaundice 1:51, 118, 1 i2, 173, 180
laser therapy 1:64 (n:53, I 1"0]'' ' 44-45t52. 55).
.
Lasser'spaster:57,67
leucine (u:34]
leucocytosis [II: 141)
kidney abnormalities 1:6, 13, 16 [r::41. 54, 63,
771
.
Jeuco!Tlalacia. periventricular.[11:39, 49)
cell
<
i9
ISS
'
'
-
..
'
dystonia [n:97)
flaccidity [11:961
pain 1:27, 154[11:7, 9, 1361.
paralysis (II: I I 8) .
186
hyperinflation [11:1271
1 '
hyper-luscency [II: ti'l f
peak expiratory flow [II: 130j
H
pressure-volume curve [II: 126)
residual volume [11:130]
shadows [n:l21, 131)
lungs. two morphological rightr:3
luteinising hormone (LH) 1:11; 78, 80, 81. 82,
89.90
.
'
Lyme disease {BOrrelia burgdorjeri. infection)
1:9,54,63 167;175 [11:12, 19-20,85,90,
94)
lymphadenopathy tlymph mide enlargement)
1:14.35.65,176,179[11:11,130, 139,.
141. 1431
childhood malignancy 1: 154, 164
differential diagnosis 1:27, 170 [1i:4, 85,
118. 136]
'. :; .
features (II: 15)
'
...
. " ~
matched pairs analysis (clinical studies) ')..
[11:146. 152, 155. 164!. :
* .;"!.t-;;..
maternal,..
.- .'"' .
~~~- . 1 -~ ,~
a?e 1:139
.
!'hsea~.l:l69 ,, r:.~ , . . '. ;.
.
drug use 1: I [n: 7, 11. 39, '49, 50] see ~/so
pregnancy
. " : . ., ,, , ~ ~
respo~sibility 1:95, . "\ , . , , _,, , , . ,
smokmg [1!,50] . _ ~ 1 1.
,
., .
McCune-AJibright syn~rom~" 71.~;~:. 80, 86,_
87" 89, 130. 142 ~; : . ' .
{7 ,,
mDNA depletion syndrome (n:31] ... , ,
mean ell volume (Mev') 1:124. i4 7, t's2; ''
mean'/statistical) [n:i.46J.147; 1561. ' .
measles (rubella) see a/So Mi-n{ vaccine i:ll
'
.
'" .
.
'1 '
[u:3. I 5, 16, 48. 49) ' . i...
. ,
differential diagnosis [n:'l8]
.
median (statistical) [11:147, 150,156, i'62]
medium chain aceyi-CoAdehydrogenase
(MCAD) deficiency 1:28:-29, 88.[n:34]
medulla [11:96] .._ .
. .
. ,.
megalocephaly 1:84
Meibomian cyst (chalazion) [u: I 04; II 1]
meniory Joss [11:94]
menarche 1:8!
meningism [n:l I]
meningitis'(u:l3,'!4, 1JO)
aseptic 1:170, 175
aetiology 1: i is. 178 [n:3, 4, IS, 18, 19,
81, 92,)
.
neonatal1: I 70, 178
therapy 1:1 10. 178 (u:4, IS, 17).
' ,,.
metabolic"alkalo'sis 1:42, 'so [11:51. 59. 78t
metaboiic meclidne {n:21-:27. 28~35]'
metachrortiatic leukodystrophy (11:83]
metachronous. hernia t99
" '"
methacholine"Chlillenge (u:h3j
}' . .
methici II in-resistant Staphy/ocdccus aureus
(MRSA) (n:SS] . . .
..
_ . ..
,
methotrexate thera'py 1:57;66; ISO; 16<r
[,i:l33,135,,139.H2J
' -. '
methyldopa toxicit.(1~49 ',' . ' ....
metronidazole therapy r:t 12: 118,122
MHC aT)tigen compatibility 1_: 168; 176
micelle formation 1: I i 0' ' " '
microcephaly [u:is. 33, '44.s4. 91J.
microdeletion detection 1:.140
microphthalmia iu:54J
187
.
.~;
.,
. ,
muscle
atr0 phy twasting) .[n:69. 941 '
..
pain [11:136]
, .
pain (myalgia) 1:27,35 (11:19, 32]
weakness [11:63, 85, 89, 94, 140, 143],
muscular d)'Strophy 1:15 (11:82, 931
.musculoskeletal pain (11:85] :
myasthenia [11:84, 93-94, 95)
myasthenia gra\is [n:93~ 1431
.
Myco!Jaccerium infection (atypical) 1:22. 179
[11:4, 12, 13]
mycophosphorylase deficiency (GSD VII)
(11:24, 32]
'
,.,
I
I
188
INDEX
..
.
-
'...
i73.'i.17 .. c.,,
.
ss.
'
'
.. :
. 155--165
ophthalmia ne.onatorum {u: 141 . .
ophthalmology (h:99-I05."!o6-1 L~J,,
. '
orogenital ulceration 1: j 20
oropharyngeal inflammation 1:176
orotic acid [11:271 .
l
I
I
I!
pancreatic
'
fibrosis [1:: 12 i]
"
insufficiency 1:114. 122. 124 (11:127. do]
pancreatitis t: 112. 122 [n:32J
pancreozymin cholecystokinin 1: I 19
pan-cytopaenia.1: 154 [n:32]
.
pan-uveitis [n! 106]
papillo-oedema (n:63. 76. 84, 94, 95]
paracetamol t:40, 44; 48, 51, 57, 67, 161
parasitic diseases 1:148, 157
parathyroid gland t:14[n:54]
parathyroid hormone (PTH) t:84
parathyroidism (ti:74J
:; '
paratyphoid fever (II: 141
parental
'
'
consent 1; I 02. I 06
responsibili~ 1:96, I 0 I, 102, I 06
Parkinsons disease tu:95J
parotitis 1:33
parvovirus Bl9 (erythema infectiosum) r:63
(u:2, 12. 16. 18]
parvovirus infection [u: 143]
patent ductus venosus (n:22, 30]
patent omphalomesenteric duct [u:521
patent urachus (n:52J
paternal age 1:139
paternal responsibility 1: I 0 I
patient
confidentiality 1: I 01
consent t:95 (i!o 1541
peak bone mass 1:73,84
peak expiratory flow rate [u:119. 129, 130]
peanutallergyl:114,124 [tt:115.ll7,
125, 128]
pectus exca\arum 1:95, 103
pelviureteric junction obstruction [u:62. 76J
pemphigus foliaceus 1:69
penetrance ~genetic) Jol39
penicillin tl-.eraov 1:41. 46. 48, 49. 52. 63
(II: 118. 129. -142]
.
pentamidine therapy (u:131]
peptic ulceration 1:121
perianal warts ::63
190'
....
si.
J
INDEX
191
premalignancy 1: I 17
.
premature rupture of membranes (PROM)
neonatal infection (n:8J
in:
.
'
psychomotor slowing [11:83, 93]
''.J
,,
psychosis in StE (n:l4 IJ
'
ptosis[n:84/99, 101,109) '
puberty
boysl:72, 79,81,82,86'
constitutional delay 1:77;82, 88
delayedr:79,85,86,181 (11:60, 12i]
girls 1:75.81, 87, 88
''
artery 1:13, 14, 20
atresia 1:2
5 (11:69)
'
INDEX
,_ , ,
_, .
brachial1:2; 7, 13, 16, 18
, ~'
'
femoral1:2, 13
_ "l " r.
jugular venous (i1:71)
rate 1: I
1 .. ,. _,,.,.
cardiovascular disease 1:2, 9; 18, 20, 21
infectious diseases (11:7, 10) '
; '
neonatall:l,ll '<"' -~
'
renaldiseasel:57f11:62,(i3,64,68)
pupillary
J' . ' '' ~. . . "': ~ ~
dilatiOni:SO(u:IIO)
,,, .:-
,,_c
fixation (11:86, 96]
' n , ,, ,
.:; .,
responses :(11:85, 95.. 96. 99. 102. 106, 110)
purine S)'l\thesis disorder (11:34],. , .
.,;
purpura (11:62) - :
. , ,1,
~~~o;h~~~~n1 :~8-~(11:~2~
.l,.
':
viral-1:68
. .
: , .J ", :;,./: ."
white scaling 1:57
,, _, . .>
Rasmussen's encephalitis (11:88, 97) ' _
reactive arthritis (II: 144]. ' '' ' '. 'reciprocal translocation (geriei lo_I3S, I '45 1
recogn!tion skills 1,:24, 31, .' . .''
'
rectal prolapse ~:93, 112, 122 (11!1'15;121; i30]
rectum
~ '.,,'' , ,.;, ' :r., -.- ~
bleeding 1:97. 118
.
dilated 1111
' i'
" 111 v.,
red blood ~ells (erythrocyteS) t:l48.
156-157,162,180(11:42,74');' .. >
redeye(n:99.106,138,141)" _._., ' '".'-~
reference ran~es in clinical siu'dies'illh si.-';
163]
,,,~;-'l''''"'' ,. .
referred pain (11: 144],. ' '. , , : -' ": ~,.,
1 "
reflexes 1:27; 35,,, , ..
,... T"
1
~reflexia (1_1:89; II_SJ , , 1 ,
asymmetncal tome neck .1:30 "<'r '<' .-.,,.
lsi:
:f '.
:;:,"'"r::-- ,.
' .,
pyruvate (11:33]
.. '"' .I
~;!
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
~
refleX tachycardia .(u: 1"25]
t.
l'adioallergoabsorbent assay (RASTJ (II: 12?1.
reflex times in clinka studies .(lr: 148, 158]
reflux nephropathy (n:63, i3. 74, 76; 77)
radiofemoral delay 1:16
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)
biopsy (11:78]
drug-induced (11:93),
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
l
'
193
,,
lesions (11:141)
' "
p
't . . '"~L11"'; r --~
mass [u:62]
...
metabolism (neonatal} 1:40,45. 51 '
pelvis dilatation [n:62] ,.
'' ,.. <'
~~--~ . ,
threshold,;[u:33, 34)
.,.
. .
tubular acidosis t:lll [11:25. 28. 33, 35; 39...
50]'" l
'
,
. '
194
1
retrobulbar neuritis (drug-induced) [t:: 112] .
Rett syndrome 1:136 [11:82, 91) '- 1:1 .. ,.
reverse transcriptase (RT) PCR t:l76 ,.,..
revised Jones criteria for rheumatic fever
(II: 142]
-' ' : ' ,... ! . ;
rhesus factor (n:42r 44] .c.': n:..i
,
rhiisus haemolytic i:lisease[it:52J
. \
r;
rheumatic fever 1:63 [no 135; 141: 142]
rheumatoid'factor [11:133, 134, 139r
rheumatology (ml33-138,,'139-14~)
.
rhinitis [11:114. 120. 123, 125,127]
rhinorrhoea [11:123]
' 1
rhinovirus [II: 1]
"I .
ribavirin therapy 1:179
rickets.l:80. 84 [11:66, 74); "
rifabutin therapy 1: 179'
rifampicin
..,
side effects [11:5, 17;125)i~
. '"'
therapyt:l79 [n:I2,S, 130[- ' :-
right atrial appendage i:14,
"
right atrial isomerism 1:3
right bundle branch block' ('RBBB) 1:4. 9
righ-to-lefi shuntt': 12
right ventricular hypertrophy 1:9, 12, 16. 18
rigid bronchoscopy [11:12()-;121, 131]
ristocetin co-factor 1:148
Ritalin r:31
rituximab 1:1 74
RNA amplification (PCR) 1:168
Robertsonian chromosome translocation
1:129, 139, 140, 143
rockerbottom feet [II: 18, 54]
Romano-Ward syndrome 1:4, 15
roseola infant urn (enxanthern subitum) t:63,
180[11:4, 16)
rot<~virus infection 1:116, 125 [n:IJ
Rothmund-Thomson syndrome 1:54. 62. 68
'
.,
INDEX
:
.... '
- -. t~ ~-
Rubinstein-}lybi,_s~d~ome,)ii:S~J -~:IT'_:
h'
">\ ~
t r
t"'
f,r
:,'i~,~ .~r~,
.....
~ ~ ~
~ ~;,..
1i
~~ l
_~.
i:: ,.
... ) (
195
...
,,
"
I,
'
valproate [11:87, 93. 96)
somatostatin 1:80
sore mouth [u: 1 I)
sore throat 1:21 [11:7, I I, 65)
sotalol 1:20, 21
So to syndrome 1:73, 89
soya-based formula feed 1:126 [u:27)
spastic paralysis (11:97)
speech
development 1:24, 26, 28-29, 31, 36
disorders 1:26, 28, 31, 34,36 (u:93)
<
sperm
,
development t:8Q-81, 90
disorders 1:84,85 (u:l 15, 127)
sphenoid sinus (II: Ill]
spherocytes 1:156 (n:42, 52)
spherocytosisl:147, 155
sphingolipidosis [11:29)
spike wave discharges (EEG) (u:87. 9&-971
spinal.cord
compression 1: I 28
tumours 1:158-159
196
spinal
.
disorders 1:95, 102, 128, 139 [11:54]
injury [u:53)
,. , .
muscula~ atrophy (SMA) 1:35, 133, I 43.
[11:48.'53, 94.:.95]
.'
schwannoma 1:133,:143
v:
I
I
~'
SRYgene'[u:-47)
'
stair climbing 1:31
standard de\iation [n:l47, 150, 1'57, !63)
standard error [11:147, 157]
'standing on one foot 1:34
staphyiO<;oc~,al J\'fec\ions a:'! 78 fu; ~ 2, 1_1 0;
130). ..
.
"
,,,,
Staphylococcus au reus t5( 56, 63, 64, 66,
.r:. '
.I
'INDEX
acute post-streptococcal
glomerulonephritis [11:57, 69]
group A streptococci [II: 18, 135. 1421
group 8 streptococci 1:8, ! 5, 51 [n: 1~1 "l
Streptococcus pneumania 1: 179 [u: 181
streptomycin side effecJS [11:5, 17]
stridor [11:2, 117]
'
stroke [11:82, 84, 92, 94]
structural heart diseasel:4
Sturge-Weber syndrome 1:64 [11:83, 93, 106)
stye (hordeolum) [II: I 04, I JIJ
'
subacute sclerosing pan-eneephaliiis [u:90J
subarachnoid haemorrhage [II: 72. 81]
subclaVian artery i: 13; 18
'subcutaneous nodules [II: 135, 142]
.subsiantia nigra lesions (u:97]
succinylacetone [Ji:27, 35]
sucralfate toxicity 1A8
sucrase f: 119
SUCrase isomaltase deficiency I; 116, 125 .
sucrose 1:119,'125
.
. '.
sudden death 1:3, 14, 15
sudden infa~Jt death syndrome {SIDSI1:23: 30
suicidn:24,'31
. ..
,.
sulfasalazinethetapy[n:l34, i40J ,
sulfonamides 1:48, 49, 63, 175[11: 112]
superior obli'que muscle tendon complex
[11:111.)
.
supra~um~i.li~cJI hei'rii~ r:94, 100
~ ''~
. supraventricular tachycardia 1: i 0,'11' ''.
surfactant (lung) [11:37 . 47. I 14, 124. 126)
surVival motor neuron (SMN) gene [u:94, 95]
swallowing disorder [n:91]
sweating:l2i,l64,165[n:86, 115; 126.128]
sweat test 1: 122 [11: 115, 126, 128]
t
,
TcellsJ:3, 14.155,177,180[n:l31]
tear discolouration [n: 125]
. ~.
tear duct. obstructed [u: I 04, I I I)
teeth disorders 1:14, 32; 57, 68. 84
telangiectasia 1:57, 68, 69
temperature of bedroom (eczema) 1:5 7, 67
temporal lobe enlargement 1:172. 180 tendonitis [u:f43J
'
Tensilon test [u,85, 95)
'
teratpgenicity [11:30; :33, 96)
teratoma !:'?5. 103 . .
terminal h:peraemia ~:64
197
FOR MRCPCH
.. '.'.:
.. '
,!Q2, I 06~,} JOJ':,.. "!i " (i'-'
tracheal r
.::.
1
atresia [u:46}
twin-to-twin transfusion synd1bme (n:48. 50,
51)
.
...
compression [II: II 7]
tympanometl): 1:2s. 34
plugging [u:46J , . ,,
typhoid (fever) ~:30, 175 (n:l, 10, 11. 14, 20]
tracheo-oesophageal fistula 1:96. I 04 (11:54,
129)
.
tyrosinaemia [11:23, 27~ 31, 35, 38, 48; 70, 78]
tyrosine (n:29J
tram!ine calcification [11:93]
kinase 1:80
tranexamic acid r: 17B
ulcerative colitis 1: II I, 115, 120; 125; 1.68,
traniaminltis [n: 135}
~ .
174,175 (11:122]
trans-annular patch surgery 1:4 . '
ultraViolet light reaction. in neonatal lupus
transglutaminase (tissue) 1: 115, I 17, 125
!:68"' .....
.. .....
.
transient hyperammonaemia'o(the ne\\born.
umbilical
cord
(11:30}
blood (stem cell transplant) 1:168, 176
transient neonatal
prolapse (11:491
diabetes 1:1 28, 138
separation 1:173, 181
myasthenia [n:93]
umbilican
"
pustulosis 1:60, 70
hernia 1:79. 91, 94, 100,
transposition ofthe great arteries 1:2, 9. I I,
stump bleeding 1:153, 158,_163 (n:43, 48.
12, 15, 19,20
53]
transtentorial herniation (n:86, 95. 96]
umbilicus dis.::harge [11:41. 52]
tremor [11:93}
unconjugated bilirubinaemia [n:46J
trichothiodystrophy 1:54. 62
unconjugated hyperbilirubiriaemia [!1:31]
tricuspid
unidentified bright objects (UBOs) (n:89)
atresia 1:2
upper airway constriction [n:.I31J
valve anemolj 1:7, II
urate leve_ls (!!:24. 32, 34)
tric'yclic an~idepressant toxicity t:50
urea cycle defects [u:29, 30, 32]
trigeminal (V cranial) nerve [II: I 09}
~rea blood le\el(n:68}
triglycerides 1:110, 119. 125 [11:24, 32]
198
INDEX
_
uterine growth r:49-"SO, 73. 83 (11:39. 54]
restriction [n:39. 49"-SOJ .:.
~
uterus development [n:37, 47]
...
'T64j'
...
,--~s~:-
1so
,. _. . .
'.'.x
,.
.
-'- ..
199
:f.r'l
. )(:t:~.(
'~~
c.:
ESS~NTIAL
wheeziness[n:7,11,117,118,120. 121,126.
.
129, 130 [11:131].
white blood cells (leukocytes)
acute lymphqblastic leukemia 1: 150. 159
1;63 . '
'
6i.
, ,
writing skills 1:30 ,
,
,.
v..'litten consent (parental) 1: I 06
xanthochromia [1_1:81, 90),
, :
xer()derma pigmentosum 1~6.8, 69
.. :
X-linked genetk disorders 1:65, 77, i!7, t:n
136,141. 144:162,163, 168,181 [n:2L
r;
I
'
I
I
'l
200