PBL 5

Question 1

when did the rotavirus injection programme begin

Answer 1

rotavirus injection programme began in September 2013.

Question 2

what does the rotavirus cause

Answer 2

o Causes around 140,000 diarrhoea cases a year and 14,000 hospital stays.

Question 3

what months is the rotavirus given at

Answer 3

• Given two separate doses at eight weeks and twelve weeks.
o Oral vaccine expected to halve the number of vomiting/diarrhoea cases caused by rotavirus and lead to 70% fewer hospital stays.

Question 4

when did the men B vaccine start

Answer 4

September 2015.

Question 5

what months do you give men B vaccination

Answer 5

• Given two doses at 2 months and 4 months, and a booster at 12 months

Question 6

what is the most common cause of bacterial meningitis

Answer 6

• Men B is the most common cause of bacterial meningitis in the UK.

Question 7

When is Men ACWY given

Answer 7

• Given to 14-18 year olds and especially new university students.
o Due to close contact in halls of residence.

Question 8

when did the Men ACWY start to be given

Answer 8

• Men W has been rare in the past but is on the rise.

o Combination of vaccine against 4 types of Men started in August 2015.

Question 9

when are their outbreaks of whooping cough

Answer 9

There are outbreaks of whooping cough every three to four years

Question 10

what is the tipping point of an outbreak

Answer 10

• When a large proportion of the population are not immune (especially adults) because the vaccination does not give life-long protection.

Question 11

describe whooping cough

Answer 11

• Serious illness = can lead to complications of pneumonia and brain damage.
o Most babies with whooping cough will need hospital treatment.

Question 12

describe the outbreak of whooping cough

Answer 12

• Outbreak in 2012 (with 13 babies dying).

- lead to vaccination being given

Question 13

when is the vaccination given to mothers with whooping cough

Answer 13

• Lead to whooping cough vaccine given to mothers between 28 and 38 weeks of pregnancy.
o Baby receives whooping cough antibodies across the placenta.
• Receives another vaccination at two months old.

Question 14

what are the stages of whooping cough

Answer 14

First Stage: early symptoms like the common cold.
• Runny nose, sneezing, dry mouth and sore throat, slightly raised temperature.
o This stage lasts around 1-2 weeks.

Second Stage: stage is characterised by intense bouts of coughing.
• Whoop sound with the sharp intake of breath.
• Vomiting after each bout of coughing.
o This stage lasts 2 weeks.

Question 15

what is the heel prick test

Answer 15

• Done at 7 days of age and is used to detect:
o Phenylketonuria (PKU)
o Hypothyroidism (TSH)
o Cystic Fibrosis (immunoreactive trypsinogen)
o Sickle Cell Disease (Haemoglobinopathies)
o Medium Chain Acyl CoA dehydrogenase.
 High Octanoylcarnitine

•	Addition in may 2015:
o	Homocystinuria (HCU)
o	Maple Syrup Urine Disease (MSUD)
o	Glutaric Aciduria type 1 (GA1)
o	Isovaleric Aciduria (IVA)

Question 16

what day is the heel prick test done at

Answer 16

• done at 7 days

Question 17

what is medium chain acyl-CoA dehydrogenase deficiency

Answer 17

• Disorder of fatty acid oxidation that on clinical presentation can mimic SIDS

Question 18

describe how normal fatty acid oxidation works

Answer 18

• Normally fatty acids are released during fasting and taken up by the mitochondria in the liver/muscle.
• They are oxidised to produce acetyl-coA which is converted to energy.
o MCAD is a mitochondrial matrix enzyme which catalyses the initial oxidation reaction.

Question 19

what is the incidence of medium chain acyl-CoA dehydrogenase

Answer 19

• MCAD affects approximately 1:8000 to 1:15 000 children.

Question 20

how do infants present with MCADD

Answer 20

• Intermittent (irregular) hypoglycaemia and vomiting caused by transient (non-intentional) fasting (often associated with undercurrent minor infection).
o If untreated can rapidly lead to coma and death.
• Episodes occur between the ages of 3 months and 2 years.

Question 21

what can the presentation of MCADD lead to

Answer 21

This dramatic presentation has sometimes lead to the misdiagnosis of SIDS.
• If fatty liver is found: disorder of FA oxidation.

Question 22

describe the genetics of MCADD

Answer 22

• Autosome recessive inherited disorder.
• Caused by a mutation of medium-chain acyl-CoA dehydrogenase gene (ACADM) on chromosome 1.
o Several allelic variants of local 1p31.
• Most common mutation is called G985.
o Substitution of guanine for adenine nucleotide at the 985th residue.

Question 23

What investigation can be used to find out if you have MCADD

Answer 23

o Acutely: hypoglycaemia.
o U&E (urea and electrolytes): may show high or low bicarbonate/reduced anion gap.
o LFTs: may show elevated enzymes, low plasma carnitine.
o Urine: medium chain dicarboxylic aciduria/absent ketones.

Skin biopsy: can be performed to confirm diagnosis of primary carnitine deficiency.
• Demonstrating reduced carnitine transport in fibroblasts.
• Fibroblasts may be used for fatty acid oxidation studies or enzyme assay.

Question 24

what are the 4 ways to manage MCUDD

Answer 24

• avoidance of fasting
• adjustment of diet
• daily carnitine
• genetic counselling for family members

Question 25

describe how long you should avoid fasting for in MCUDD

Answer 25

o Maximum duration of fasting should be:
 8 hours between 6 months and 1 year of age.
 10 hours in the second year of life.
 12 hours after that.

Question 26

what kind of diet should you have in MCUDD

Answer 26

o Greater calories in carbohydrates and proteins, while minimising lipids

Question 27

describe why we manage daily carnitine

Answer 27

o Has been suggested conjugation and excretion of toxic bi-products.
o Supplementation may promote clearance of accumulating acylcarnitines (especially during exercise), but there is no beneficial effect clinically and biochemically.

Question 28

describe what should happen in genetic counselling

Answer 28

o The heterozygous state is quite common.

o Testing should be offered to first-degree relatives.

Question 29

what is SIDS

Answer 29

• Sudden and unexpected death of an infant/young child for which no adequate cause if found after a thorough post-mortem examination.
(1 month to 1 year)

Question 30

what is the most common cause of death of post neonates (1 month to 1 year olds)

Answer 30

SIDS

Question 31

what has reduced the number of infant deaths via SIDS

Answer 31

 Fallen since introduction of back to sleep

• Babies should be nursed on their back.

Question 32

what are the other causes of SIDS

Answer 32

o	Lethal congenital malformations. 
o	Infections.
o	Rare inherited conditions.
o	Accidents.
o	Non-accidental injury.

Question 33

what are the unknown causes of SIDS

Answer 33

• Some babies stop breathing and die without any sign of struggling.
• Not uncommon for babies to have brief periods of apnoea.
o Lasts up to 10 seconds.
• Small number of babies have been smothered by parents.

o But autopsy findings are the same as SIDS.
 5-10% of so-called SIDS is smothering.
o Controversial in the past  distress to parents.

Question 34

when does SIDS usually happen

Answer 34

• Usually overnight period of sleep.

o Can happen any time baby falls asleep.

Question 35

what are the risk factors associated by SIDS

Answer 35

• Males
• Premature
• Low birthweight
• Have parents who smoke
• Not breast-fed
• Sleeping prone on the belly.
• Overheating.

Question 36

what happens in the next visit with the nurse after the next baby after SIDS

Answer 36

• Implanted by many districts.
o Nurse visits and supervises subsequent babies: make sure baby is well, weighed regularly, attending child health clinics etc…
- care of the next infant (CONI)

Question 37

At approximately what rate does SIDS occur in England and Wales?

Answer 37

0.3 deaths per 1000 live births.