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HD2 PBLs > PBL5 - A Death In Infancy > Flashcards

PBL5 - A Death In Infancy Flashcards

1
Q

Two months - vaccines (3)

A

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

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2
Q

Three months vaccine (3)

A

DTaP/IPV/Hib
Meningitis C
Rotavirus

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3
Q

Four months old vaccine (2)

A

DTaP/IPV/Hib

PCV - pneumococcal infection

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4
Q

1 year vaccinations (3)

A

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

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5
Q

2 / 3 years vaccine (1)

A

Influenza nasal spray

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6
Q

Three years and four months vaccines (2)

A

DTaP/IPV

MMR

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7
Q

Girls 12 / 13 vaccine (1)

A

HPV - human papillomavirus types 16 & 18 - cervical cancer

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8
Q

14 years vaccine (2)

A

Td/IPV - Dipteria, tetanus, polio

Meningitis C

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9
Q

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

A

140,000

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10
Q

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

A

1 in 10

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11
Q

Rotavirus vaccine name

A

Rotarix

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12
Q

Whooping cough complications (2)

A

Pneumonia and brain damage

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13
Q

Whooping cough vaccine for mothers given between….

A

28-38 weeks of pregnancy

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14
Q

There are whooping cough outbreaks every …

A

3-4 years

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15
Q

Does whooping cough vaccine last for life?

A

NO!!

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16
Q

Whooping cough stages:

A

Early symptoms - 1-2 weeks, cold symptoms

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

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17
Q

Whooping cough bacteria

A

Bordetella pertussis

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18
Q

Heel prick test occurs at how old?

A

7 days

19
Q

DTaP / IPV / Hib

A

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

20
Q

Heel prick test screens for six inherited metabolic diseases:

A 
PKU - phenylketonuria
MCADD - medium chain acy-coA dehydrogenase deficiency 
MSUD - maple syrup urine disease
IVA - isovaleric acidaemia 
GA1 - Glutaric aciduria type 1
HCU - homocystinuria
21
Q

All babies have a hearing screening done using

A

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

22
Q

…. Is screened to look for MCADD

A

Octanoylcarnitine (C8)

23
Q

MCADD - disorder of …… … ….

Clinically presents similar to …

A

MCADD - disorder of fatty acid oxidation

Clinically presents similar to sudden infant death syndrome

24
Q

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

A

Acetyl-CoA

25
Q

MCAD is a … … Enzyme which catalyses …

A

mitochondrial matrix

Catalyses the initial oxidation reaction of releasing fatty acids when fasting

26
Q

MCAD incidence:

A

1 in 8000 - 1 in 15,000

27
Q

MCADD presentation

A

Intermittent hypoglycaemia
Vomiting
Transcient fasting
Intercurrent minor infections

28
Q

MCAD can lead to …

Usually happens between the ages of …

A

Coma and death

2 months - 2 years

29
Q

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

A

Disorder of fatty acid oxidation (MCAD)

30
Q

MCAD genetics:

A

Autosomal recessive

31
Q

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

A

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

32
Q 
MCAD investigations:
Acutely - 
U&E - 
LFT - 
Urine - 
Skin biopsy -
A

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

33
Q

Treat MCAD:

A 
Avoid fasting 
6mths - 1 year - 8 hours
2 yrs old - 10 hours 
3yrs + - 12 hours 
- increase carbs, reduce lipids
34
Q

Give daily carnitine to treat MCAD as… (2)

A

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

35
Q

SIDS =

A

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

36
Q

SIDS commonest between age of:

A

1 month - 1 year

37
Q

Causes of infant mortality: (5)

A 
Lethal congenital malformations 
Infections
Rare inherited conditions 
Accidents
Non-accidental injury
38
Q

SIDS commoner in: (3)

A

Male premature infants
Parents who smoke
Babies who are artificially fed

39
Q

Prevent SIDS: (1)

A

Sleep babies on backs

40
Q

Is it common for babies to have apnoea during sleep?

A

Yes up to 10 seconds!

41
Q

Reasons for neonate apnoea: (1, 4)

A

Abnormalities in arcuate nucleus of the brainstem

- delayed developmental arousal, cardio-respiratory control or cardiovascular control and thermal regulation

42
Q

What percentage of SIDS is smothering?

A

5-10%

43
Q

CONI scheme

A

Care of next infant

- nurse who visits and supervises subsequent babies

HD2 PBLs (6 decks)

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