Sudden Death Flashcards
In the central dogma, which process is most likely to be affected by a mutation that changes the first base in an intron?
splicing
Signal of whether to splice or not is in the first few bases after or before an exon= first and last bases of an intron
will a premature stop in the exon 2 of a gene cause a big effect
yes- affects everything after it
will a deletion of a base in a exon have a big effect
will cause a frame shift mutation
does a variant being identified in 1% of general population make it more or less likely to be pathogenic
less- more likely to be a polymorphism
Why is Next Generation Sequencing (NGS) better than conventional sequencing as a test to analyse 8 genes
It allows more efficient analysis of multiple genes, analyses every gene in the genome
How do you correct the QT interval for heart rate?
(QT Interval) / (Square root R-R interval)
what is the Q-T interval
period between ventricular depolarisation and repolarisation
which cardiac arrhythmia does long QT syndrome predispose you for
torsades de pointes
what treatment for torsades de pointes
magnesium sulphate
What is the most important piece of advice that will reduce the risk of sudden infant death?
To put them on their back to go to sleep
what signs on ECG of VT
QRS complexes last longer than 120ms
why do you get long QRS’s in VT
ventricles taking longer to depolarise and contract as impulse starting in muscle and disseminating in muscle through myocyte to myocyte not through nerve fibres- spreads more slowly= ectopic start to ventricular tachycardia.
what does SVT look like on ECG
fate rate
no P waves - (no effective atrial depolarisation)
narrow QRS
what drug for long QT syndrome
beta blockers- atenolol
do you need consent from family/NOK for a hospital autopsy
yes
who can request a hospital biopsy
clinical or family member when cause of death uncertain
is family consent needed for a procurator fiscal autopsy
no
when would an procurator fiscal death autopsy be done
• Suspicious deaths – i.e. where homicide cannot be ruled out
• Drug related deaths - including deaths due to adverse drug
reactions reportable under the Medicines and Healthcare Products
Regulatory Agency (MHRA) (Yellow Card Scheme)
• Accidental deaths (including those resulting from falls)
• Deaths resulting from an accident in the course of employment
• Deaths of children from overlaying or suffocation
• Deaths where the circumstances indicate the possibility of suicide
-negligence of the doctor
-sudden and unexpected death
-responsible clinician unable to certify death
when would you do an external only autopsy
non suspicious causes with significant natural pathology/ elderly/ family refusal for personal, religious or cultural reasons
what is sudden death
death within 24 hours from the onset of symptoms
what are the cardiac causes of sudden death
coronary disease/ atheroma
hypertensive heart disease- causes ventricular hypertrophy
valve disease- aortic stenosis causes hypertrophy
congenital diseases
cardiomyopathic enlargement
coronary arteritis
MI
pericarditis
aneurysm
cardiomyopathies (hypertrophy, restrictive, dilated)
PE
what are bilateral diagonal ear lobe creases an indicator of
hyperlipidaemia
what is corneal arcus a sign of
hyperlipidemia
what does signs of hyperlipidaemia suggest
coronary artery disease/ atherosclerosis
what is coronary insufficiency
coronary artery stenosis/ spasm that impairs perfusion of heart- not cause by thrombosis
often get fibrosis and arrhythmias
what infections can cause resp obstruction
quincy (prediposes to tonsilar abscess)
epiglottitis in children (haemophilus influenza type B)
what are some fatal abdominal events
peritonitis, mesenteric infarction, thrombosis, hernias, duodenal ulcers, heamorrhage
