Diagnostics Flashcards

1
Q

airport scanners are very

A

sensitive tests

- they always go off

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2
Q

airport scanners aren’t very

A

specific

- most who set them off re not carrying a gun

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3
Q

BUT

A

no one with a gun will get through

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4
Q

often high sensitivity tests

A

have more specific tests after e.g. one of the more technical airport signals

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5
Q

further tests are usually

A

time-consuming
expensive
more invasive

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6
Q

example of a sensitive test

A

HIV testing in blood donor is very sensitive- it is better to throw away a good sample than give infected blood

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7
Q

example of specific test

A

diagnosing need for kidney transplant is very specific

-it is better not to throw away a good kidney

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8
Q

the important elf a good diagnosis

A

correct therapy can be used.g. T1 vs T2, which cancer?

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9
Q

early detection

A

gives better prognosis

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10
Q

diagnosis and screens

A

a poorly person may visit a doctor- clinical knowledge/ diagnostic tests

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11
Q

an ‘at risk’ population may be

A

screen- often requires clinical referral and subsequent tests for a diagnosis

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12
Q

what can we use for a diagnostics

A

something measurable that is different in affected group

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13
Q

symptoms

A

spots, never, swelling, bleeding

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14
Q

physiology

A

temp, bp, spirometry, eGFR

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15
Q

Blood-borne

A

hormone levels, blood glucose, inflammatory mediators, PSA, genetic markers, antibodies

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16
Q

biopsy-based

A

cancer antigens, cancer histology, leukocytes, genetic markers

17
Q

what is required for diagnosis

A

an accurate diagnostic cut-off

18
Q

the diagnostic cut off lies between

A

true negatives (healthy) and true positives (diseaseO

19
Q

Joy’s nose- t shirt sampling smell test for 12 individuals

  • 6 diagnosed with parkinson’s
  • 1 undiagnosed
  • 5 healthy
A

she was 100% sensitive- no missed cases

and 100% specific- no wrong cases

20
Q

some people with the disease will be

A

called negative and some people without the disease will be called positive

21
Q

VOCs

A

volatile organic compounds

22
Q

VOCs are present in

A

sweat, urine, poo and breath

  • metabolic products
  • quick, cheap, non-invasive
    e. g. dogs smelling for cancer
23
Q

imaging

A

e.g. IPF scan, x rays, histology, karyotyping

24
Q

parameters used in imagine

A

size, shape, number

  • scoring system often used
  • subjectivity can be an issue
  • expert opinion sometimes required
25
imaging is...
expensive, timely and generally used as an end diagnostic
26
automated detection?
e. g. taking photos of a mole | - could help with early detection- better prognosis- cheaper to treat
27
DNA as a biomarker:
- infection (PCR) - monogenic disease- sequence candidate genes - SNps - cell free (cf) DNA
28
cell free DNA
e.g circulating tumour (ctDNA)
29
ctDNA
- liquid biopsy--> PCR --> amplify target genes often mutated in cancer --> DNA sequencing of target regions - DNA released into blood - tumour and normal cells - non-invasive
30
trisomy screening- current guidelines
11-13 weeks- combined test which is quick and easy - measure nuchal translucency (PAPP-a_, (HcG) and mother are - combine to generate risk score
31
if risk is 1 in 150, amniocentesis is offered
4% risk of miscarriage | - but the gold standard
32
gold standards are thought to be
diagnostic
33
new method for detection of trisomy
around 15% of cFDNA in pregnant women comes from embryo cffDNA (cf fatal DNA) - non invasive rental screen for trisomy - using NGS- tell us how many copies of DNA - fetal DNA will be different to maternal DNA - compares fatal and maternal ratios
34
new method for detection of trisomy implementation
being introduced tis year, however it is an expensive process, so only higher risk patients (combined test score) referred.
35
SNPs and GWAS
GWAS correlated the presence of genetic variations (SNPs) with the risk of developing a disease - identification of an individual SNP profile may indicate risk of developing a condition e. g. a panel of 18 SNP has been shown to help predict risk of family breast cancer
36
diagnosing the mind is hard
- how do you get a firm diagnosis of the mind e.g. Trump - a diagnosis can be classification of behavioural treats - is there a real condition? - is it useful to have a diagnosis of internet gaming disorder?