genetics and genome

Question 1

difference between genetics and genome?

Answer 1

Genome
The study of an organism’s complete set of genetic info
The genome includes both genes (coding) and non-coding DNA
“Genome”: the complete genetic info of an organism

Genetics
The study of heredity
The function and composition of single genes
“Gene”- specific sequence of DNA that codes for a functional molecule.

Question 2

why do men seem to get heart attacks younger than women?

Answer 2

-Males are generally younger when they have MI. Women have oestrogen until later menopause which protects them from heart attacks until later.

Question 3

WHAT IS MYOCARDIAL INFARCTION?

Answer 3

• What: when there is insufficient oxygen supply to the myocardium due to blockages in arteries (Atherosclerosis) . Heart muscle becomes necrotic and rigid so cannot conduct electricity to contract. Reversible is get treatment within time frame- 30/45 min.
• “Arthro-thrombotic event”: fatty bit dislodges and clot forms, so vessels blocked and blood obstructed etc.

Question 4

what immediate interventions need to be done when someone has an MI?

Answer 4

• ECG (measures electrical output of heart) has to be one of the main diagnostic tools.
• -Within the 30 min, patient will also need anti-thrombotic drugs like aspirin.
• If patient cannot have PCI, 2nd intervention would be thrombolysis
• LOOK OUT FOR - Trope warnings

Question 5

• Signs and symptoms of MI

Answer 5

 Retrosternal chest pain radiating to arm(s) and jaw, back or shoulders
 Feeling of a heavy weight or tight band across the chest
 Nausea, vomiting and sweating (cold, clammy skin)
 May have abnormal vital signs
 Changes to 12 lead ECG
-12 different places in heart
 Altered blood results

Question 6

why do you need to get a lipid profile when suspected of having MI? what types of lipids does it look for?

Answer 6

o Total cholesterol level (overall cholesterol): overall. Good and bad
o HDL cholesterol (good cholesterol): helps to get rid of bad cholesterol
o LDL cholesterol (bad cholesterol): cholesterol high which leads to waxy deposits that get stuck to the arteries. Can’t be removed from circulatory system fast enough.
o Non- HDL (total cholesterol - HDL) : LDL and triglyceride levels
o TC:HDL ratio (levels of HDL compared with total cholesterol)= want to be LOW
o Triglyceride levels

Question 7

why is cholesterol important?

Answer 7

• Cholesterol is needed for cell membranes (bind receptors), make vitamin D, steroid hormones depend on them, make bile and store energy for emergency purposes

Question 8

how are lipids and triglycerides found in the blood and why?

Answer 8

• Cholesterol and triglycerides are packaged into lipoproteins because shouldn’t be in large numbers in the blood.

Question 9

normal lipid levels?

Answer 9

total= below 5
Non-HDL cholesterol= below 4
LDL cholesterol = below 3
HDL cholesterol = abpve 1 for men, above 1. for women
TC:HDL ratio = above 6 is high risk so the lower the better

Question 10

• How would you talk to Jackie about her lipid profile?

Answer 10

• educate, remind her it can be reversed, make plan, ask if have any questions
• interventions: healthy diet, medications aka Statins! Unlikely that lifestyle changes solely will change her lipid levels drastically

Question 11

what is familial hypercholesterolaemia?

how can it be diagnosed?

Answer 11

• FH is an autosomal dominant genetic condition that leads to doubling of LDL-cholesterol levels from soon after birth.
• Lifetime burden of high level LDL-cholesterol leads to dramatically increased risk of premature cardiovascular disease.
• > 20 fold increased risk of premature myocardial infarction (MI before 60 years).
• FH is among the most inherited conditions: 1/250 people will have FH.
• Most people with FH have heterozygous FH- so only need copy of variant LDR genes. Homozygous is very rare but awful consequences i.e kids with sudden cardiac death, MI
• FH affects all race/ethnic groups
• FH can be diagnosed based on a combination of lipid levels, family history, findings on physical examination and genetic testing.
• FH is treatable
• With early diagnosis and inexpensive statin therapy, excess CVD risk is eliminated

Question 12

what are the clinical features for for cholerosterolaemia?

Answer 12

-tendon xanthomata- calcium build up around knuckles, ankles etc
xanthelasmas- calcium build up around eyes

corneal arcus - rings around eyes (careful for older ppl coz might have it anyways).

Question 13

• Family history

why is taking family history useful and vital

Answer 13

• Helps identify modes of inheritance, clues to diagnose, likelihood, identify red flag events
• Can construct a family tree- may need advanced communication skills

Question 14

what things would you include in a genomic conversation with a patient?

Answer 14

-language, complex feelings, implications of genomic test, consent, family implications