PBL 5 Flashcards
when did the rotavirus injection programme begin
rotavirus injection programme began in September 2013.
what does the rotavirus cause
o Causes around 140,000 diarrhoea cases a year and 14,000 hospital stays.
what months is the rotavirus given at
• 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.
when did the men B vaccine start
September 2015.
what months do you give men B vaccination
• Given two doses at 2 months and 4 months, and a booster at 12 months
what is the most common cause of bacterial meningitis
• Men B is the most common cause of bacterial meningitis in the UK.
When is Men ACWY given
• Given to 14-18 year olds and especially new university students.
o Due to close contact in halls of residence.
when did the Men ACWY start to be given
• 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.
when are their outbreaks of whooping cough
There are outbreaks of whooping cough every three to four years
what is the tipping point of an outbreak
• When a large proportion of the population are not immune (especially adults) because the vaccination does not give life-long protection.
describe whooping cough
• Serious illness = can lead to complications of pneumonia and brain damage.
o Most babies with whooping cough will need hospital treatment.
describe the outbreak of whooping cough
• Outbreak in 2012 (with 13 babies dying).
- lead to vaccination being given
when is the vaccination given to mothers with whooping cough
• 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.
what are the stages of whooping cough
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.
what is the heel prick test
• 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)
what day is the heel prick test done at
- done at 7 days
what is medium chain acyl-CoA dehydrogenase deficiency
• Disorder of fatty acid oxidation that on clinical presentation can mimic SIDS
describe how normal fatty acid oxidation works
• 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.
what is the incidence of medium chain acyl-CoA dehydrogenase
• MCAD affects approximately 1:8000 to 1:15 000 children.
how do infants present with MCADD
• 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.
what can the presentation of MCADD lead to
This dramatic presentation has sometimes lead to the misdiagnosis of SIDS.
• If fatty liver is found: disorder of FA oxidation.
describe the genetics of MCADD
• 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.
What investigation can be used to find out if you have MCADD
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.
what are the 4 ways to manage MCUDD
- avoidance of fasting
- adjustment of diet
- daily carnitine
- genetic counselling for family members
