30/3/22 Flashcards
Explain what each of the following terms mean in regards of genetics:
- Penetrance
- Mendelian disorder
- Mutation
- Polymorphism
Penetrance = likelihood of having a disease if you have a gene mutation
Mendelian disorder = disease predominantly caused by a change in the single gene
Mutation = used to describe PATHOLOGICAL variant
Polymorphism = variant that is prevalant in general population, often used to imply ‘benign’ - has a low penetrance
What genetic test would you do in childhood disease to assess for duplications and deletions in chromosome?
Why?
Array comparative genomic hybridisation
Use array CGH over karyotyping because it has better resolution - so can see very small imbalances
What is the term for where the different codons can code for the same AA?
Redundancy
What is the treatment for generalised seizures?
Describe the types of generalised seizures that you get?
- Sodium valporate and lamotrgine
- Carbaezpine
Abscence - occurs in kids and they zone out for like 10seconds and confused after - treat with ethosuzimide
Tonic-clonic - lose conciousness - seize and then start fitting and confused after
Myoclonic - sudden jerk of limb/trunk or face - don’t use carbaezipine as it worsens seizures
Atonic - sudden loss in muscle tone and drop to the floor - retain conciousness
What are the side effects to warn the paitent of with carbemizapine and sodium valporate?
Valporate
- hair loss
- tetrogenic
Carbemizapine
- argranulocytosis - regular bloods
What are the rules for driving with epilepsy?
What do you do if a patient refuses?
1st seizure
Car - 6 mnths free
Lorry - 5 years
Epilepsy
Need to apply for new license
Car - 1 year free (can be drug controlled)
HGV - 10yrs free - off meds
Inform them that you have a responsibilty to report to the DVLA
How do you take a falls/loss of consciousness history?
What happened on lead up
- any trigger?
- what were u doing before?
- has this happened before?
- feel any aura?
- any strange sensory or muscle movements before?
- any nausea
- any new medications?
The event
- get a collateral history if poss
- lose conciousness?
- hit head?
- injury self?
- any fitting or signs of seziure?
- how long did it take for them to come back around?
- how long did you lie?
After
- remember what happened?
- confused after?
- has it happened again since?
- were you able to get up to an alarm?
- fear of falling? (makes more likely to fall)
Remember PMH and drugs history
What examination would you like to do in patient that has presented with a fall?
- general obs
- any injury - in particular head, spine, humerus, hip and pelvis
- cardio - postural hypotension. murmur
- Neuro
- cranial nerve - stroke, visual problems
- upper and lower limb - check for sensory/motor dysfunction, tremor
- gait - balance and instability
- 4AT +/- MOCA
What management plan would you set up for patient having falls?
Want to make sure they feel as safe as poss and are no longer scared of falling
- strength and balance training (3x week for at least 12 weeks)
- home hazard assessment and set up alarms and make home as easy to navigate as poss
- vision assessment and referal to optometrist
- medication review w/ modification or withdrawl
Is Anti-D given to rhesus +ve or -ve mothers?
-ve
After how long do you start investigating infertility?
1 year
How do you calculate a woman’s expected date of delivery?
37 wks = 9 months + 7 days
Can a woman with placental praevia give birth vaginally?
No - needs urgent C-sextion
In what situations should you suspect neutropenic sepsis?
Any immunosuppressant or chemotherapy
Start on tazobactam
What condition would cause asynchronous beats in radial to radial pulse comparison?
Aortic dissection
