LO Related (Part 1) Flashcards
Disadvantages the screening
Longer morbidity when prognosis is unaltered
Potential over treatment of abnormalities
Resource cost
False reassurance from false negatives
Anxiety from false positives
Hazard of the sreening test
Term in pregnancy
37-42 weeks
40 weeks on average
What anti epilieptic durg should be stopped during pregnancy
What if it isnt suitable to stop this drug?
Valproate
If cant then increase the dose of folic acid
Why are pregnant mothers usually given magnesium sulphate
Evidence that it aids neurological development
White blood cell with a kidney shaped nucleus
Monocytes
What is the exon-intron boundary AKA
Consensus sequence
White blood cell identification
- Second most common
- Large circular nucelus
- Some granuels
Lymphocytes
White blood cell identification
- Distinctive 3-5 lobed nucleus
Neutrophil
How many lobes of nuclei do eosoinophils have
Two
What does the APGAR score look at
What is is scored out of
What is a normal score
Tone/activity Colour Breathing HR Reflexes
Out of 10 (rare to get a 10)
Get worried if less than 5
Why are basophils so names
Describe their appreance
They are basophilic (stain blue) with a bilobed nucleus
Also contain granules (likely to contain histamine)
How should you describe the risk of a baby having downs syndrome
SHould really say that CHANCE
How is the chance of a baby having DS calculated
Screening results plus the age of the mother
How many babies born with DS
1 in 800
Most common downs syndrome screening
Nuchal translucency and blood tests (combinesd)
These are offered to ALL eligible mothers between 10-20 weeks **usually at week 11-13
When are the TRIPLE and QUADRUPLE tests
When are they used?
How do they compare to the nuchal transluency and combined test
TRIPLE - 14 wks
QUADRUPLE - 20 weeks
Have lower detection rates
NICE guidance regarding who gets which DS screen
IN FIRST TRIMESTER
Combined test
IN SECOND TRIMESER
Triple or quadruple test
Two diagnostic tests for DS
When are they performed
What are the rates of miscarriage
CHORIONIC VILLUS SAMPLING
(10-13 weeks)
(1-2% miscarriage risk)
AMNIOCENTESIS 15 weeks (0.5-1% miscarriage risk) If done at 14 weeks risk doubles
What is NIPT
What are the controversies around this
Non invasive prenatal testing
Testing the blood for cell free foetal DNA
High detection rate
BUT NEED TO HAVE AMNIOCENTESIS BEFORE A TERMINATION IS ABLE TO OCCUR
When is pregancy termination legal?
1) life of mother in danger
2) foetus have severe abnormalities
3) mental/physical health of mother will be harmed
4) other children will be harmed
MUST BE BEFORE 24 WEEKS (2 doctors required)
This is not the case if 1) or 3) apply (mothers life in danger, or mental/phys health may be harmed)
What is CHRONIC GRANULOMATOUSE DISEASE
X-linked mutation affecting NADPH OXIDASE
Defect in neutrophils and oxidative burst
Patients get severe bacterial infections and usually require life-long antibitoics
Complement regulatior proteins
Factor H and I (break down C3b)
C1INH
CFHR-1 (inhibits C5 converatase)
membrane cofactors which breakdwon C3b and C4b
Effects of genetic defects in C1-C4
Recurrent infection with pygenic bacteira
Effects of genetic defects in C5-C9
Failure to form MACs
Increases the suseptibility to N.Meningitiis
Common assocaited condiitons with downsyndrome
Hearing problems (80-90%) Eye problems (60%) Cardiac defects (40-50%) Higher prevalence of autism, leukaemia and thyroid issues
What is the medical model of disability
How does this compare the the social model of disability
MEDICAL MODEL - Disabillity is the problem the person has - and focusses on trying to improve this
SOCIAL MODEL - Frames the disability as a problem with society which contains environmental, social and organisational barries to those with disabilities
Example where drug absorption may be directly affected by GI contents
Tetracylines (MOA - inhibit tRNA binding) bind to milk and to antacids
3 enteral routes that AVOID first pass metabolism
Buccal
Sublingual
Rectal
For a 70kg man what do the following mean????
Vd 5L
Vd 10-15L
Vd 40-42L
Vd 5L (drug is confied to the plasma) e.g. insluin
Vd 10-15L (drug is confied to the interstitial fluid) e.g. mannitol
Vd 40-42L (drug is also in the intracellular fluid) e.g. ethanol
Why might you have an impossibly high Vd
if the drug is not evenly distributed in body compartments
I.e. it is being sequestered like FLUORIDE in BONE
What is ECTOPIA
The presence of differentiated cells in an abnormal location
E.g. ectopic pancrease in the wall of the small intestine
Two examples of metaplasia
CIGARETTE SMOKERS
Resp epithelium –> stratified squamous
GORD (BARRETS)
Oesoph (strat squamous) –> columnar glandular
% of DNA as INTRONS and EXONS
1.5% is exons
25% is introns
Small arm of chr =
Long arm of chr =
P = small arm
Q = long arm
Four breast cancer risk factoros
Early menache, late menopause
Medication containing oestrogen (OCP)
Environmental factors
Genetics
Also typical cancer RFs - obesity, diet, alochol, immunosuppp
What is the nottingham prognostic index
Assesses the chance of 15 year survival
BASED ON
TUMOUR SIZE, NODAL INVOLVEMENT AND GRADe
What should every women with suspected breast cancer be offered
TRIPLE ASSESSMENT
Breast exam
Mammography
Biposy
How many pairs of chromosos
23
Sarcoma is
Cancer arrising from connective tissue
What is SPIIKES
Method for BREAKING BAD NEWS
Setting Perception Invitation Knowlege Emotions Strategy and summary
What are the first set of nodes draining the breast (and thus the nodes that are most likely to be affected by breast cancer)
Sentinel nodes
What types of neurones are usually UNmyelinated
Autonomic
What might cause an increase in disease PREVALENCE
True increase in risk
Change in demogrpahic
Longer duration of living with disease
Artefacts
What is the metabolic syndrome
Combination of DIABETES, HYPERTENSION and OBESTIY this puts an indiv at hi risk of CVS disease
Main neuropeptide STIMULATING FEEDING
AGrP