PBL5 - A Death In Infancy

Question 1

Two months - vaccines (3)

Answer 1

DTaP/IPV/Hib
Pneumococcal conjugate vaccine (PCV)
Rotavirus

Question 2

Three months vaccine (3)

Answer 2

DTaP/IPV/Hib
Meningitis C
Rotavirus

Question 3

Four months old vaccine (2)

Answer 3

DTaP/IPV/Hib

PCV - pneumococcal infection

Question 4

1 year vaccinations (3)

Answer 4

Hib/ Men C
MMR (measles mumps and rubella)
Pneumococcal infection

Question 5

2 / 3 years vaccine (1)

Answer 5

Influenza nasal spray

Question 6

Three years and four months vaccines (2)

Answer 6

DTaP/IPV

MMR

Question 7

Girls 12 / 13 vaccine (1)

Answer 7

HPV - human papillomavirus types 16 & 18 - cervical cancer

Question 8

14 years vaccine (2)

Answer 8

Td/IPV - Dipteria, tetanus, polio

Meningitis C

Question 9

Rotavirus causes how many cases of diarrhoea in under 5s in UK?

Answer 9

140,000

Question 10

Rotavirus leads to how many hospital stays in under 5s?

Answer 10

1 in 10

Question 11

Rotavirus vaccine name

Answer 11

Rotarix

Question 12

Whooping cough complications (2)

Answer 12

Pneumonia and brain damage

Question 13

Whooping cough vaccine for mothers given between….

Answer 13

28-38 weeks of pregnancy

Question 14

There are whooping cough outbreaks every …

Answer 14

3-4 years

Question 15

Does whooping cough vaccine last for life?

Answer 15

NO!!

Question 16

Whooping cough stages:

Answer 16

Early symptoms - 1-2 weeks, cold symptoms

Second stage - Stage lasts 2+ weeks, cough with ‘whoop’ sound, sharp intakes of breath, vomiting after coughing

Question 17

Whooping cough bacteria

Answer 17

Bordetella pertussis

Question 18

Heel prick test occurs at how old?

Answer 18

7 days

Question 19

DTaP / IPV / Hib

Answer 19

Diphtheria, tetanus, pertussis (whopping cough)
Polio
Haemophilus influenza epidemic type B

Question 20

Heel prick test screens for six inherited metabolic diseases:

Answer 20

PKU - phenylketonuria
MCADD - medium chain acy-coA dehydrogenase deficiency 
MSUD - maple syrup urine disease
IVA - isovaleric acidaemia 
GA1 - Glutaric aciduria type 1
HCU - homocystinuria

Question 21

All babies have a hearing screening done using

Answer 21

Otoacoustic emissions - sounds of Cochlear origin (hair cells moving) - recorded with a microphone in the ear canal

Question 22

…. Is screened to look for MCADD

Answer 22

Octanoylcarnitine (C8)

Question 23

MCADD - disorder of …… … ….

Clinically presents similar to …

Answer 23

MCADD - disorder of fatty acid oxidation

Clinically presents similar to sudden infant death syndrome

Question 24

Fatty acids are normally released during fasting and taken up by the mitochondria in the liver & muscle.
They are oxidised to produce ….

Answer 24

Acetyl-CoA

Question 25

MCAD is a ... ... Enzyme which catalyses ...

Answer 25

mitochondrial matrix | Catalyses the initial oxidation reaction of releasing fatty acids when fasting

Question 26

MCAD incidence:

Answer 26

1 in 8000 - 1 in 15,000

Question 27

MCADD presentation

Answer 27

Intermittent hypoglycaemia Vomiting Transcient fasting Intercurrent minor infections

Question 28

MCAD can lead to ... | Usually happens between the ages of ...

Answer 28

Coma and death | 2 months - 2 years

Question 29

If fatty acid infiltration found in the liver post mortem, consider ...

Answer 29

Disorder of fatty acid oxidation (MCAD)

Question 30

MCAD genetics:

Answer 30

Autosomal recessive

Question 31

MCAD gene mutation & chromosome & loci & most common gene mutation:

Answer 31

Medium-chain-acyl-CoA dehydrogenase (ACADM) Chromosome 1 Locus 1p31 Most common mutation - G985 - guanine swapped for adenine

Question 32

``` MCAD investigations: Acutely - U&E - LFT - Urine - Skin biopsy - ```

Answer 32

MCAD investigations: Acutely - hypoglycaemia U&E - altered bicarb, reduced anion gap LFT - elevated enzymes, low plasma carnitine Urine - absent ketones, medium chain dicarboxylic aciduria Skin biopsy - primary carnitine deficiency - reduced carnitine transport in fibroblasts

Question 33

Treat MCAD:

Answer 33

``` Avoid fasting 6mths - 1 year - 8 hours 2 yrs old - 10 hours 3yrs + - 12 hours - increase carbs, reduce lipids ```

Question 34

Give daily carnitine to treat MCAD as... (2)

Answer 34

Allows conjunction and excretion of toxic bi-products from blocked fatty acid metabolism Clears accumulating acylcarnitines during exercise

Question 35

SIDS =

Answer 35

Sudden and unexpected death of an infant with no adequate cause found after post mortem

Question 36

SIDS commonest between age of:

Answer 36

1 month - 1 year

Question 37

Causes of infant mortality: (5)

Answer 37

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

Question 38

SIDS commoner in: (3)

Answer 38

Male premature infants Parents who smoke Babies who are artificially fed

Question 39

Prevent SIDS: (1)

Answer 39

Sleep babies on backs

Question 40

Is it common for babies to have apnoea during sleep?

Answer 40

Yes up to 10 seconds!

Question 41

Reasons for neonate apnoea: (1, 4)

Answer 41

Abnormalities in arcuate nucleus of the brainstem | - delayed developmental arousal, cardio-respiratory control or cardiovascular control and thermal regulation

Question 42

What percentage of SIDS is smothering?

Answer 42

5-10%

Question 43

CONI scheme

Answer 43

Care of next infant | - nurse who visits and supervises subsequent babies