Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

4 CSIM2 > Mechanism & Investigation of Diseases > Flashcards

Mechanism & Investigation of Diseases Flashcards

1
Q

what does sensitivity tell us

A

tells us out of those who do have a disease, how many were tested positive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what does specificity tell us?

A

tells us out of those who do not have a disease, how many were correctly tested negative.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what does positive predictive value tell us

A

tells us out of those who were told they have the disease, how many actually do have

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what does negative predictive value tell us

A

tells us out of those who were tested to not have the disease, how many truly do not

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

how to calculate positive likelihoood ratio?

A

sensitivity/1-specificity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

how to calculate negative likelihood ratio?

A

1-sensitivity/specificity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

how to calculate positive and negative predictive values?

A

PPV: (truly disease)/(tested positive)
NPV: (truly healthy)/(tested negative)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is likelihood ratio used for?

A

to determine how good a test is at telling someone if they have the disease given a particular result.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what value of likelihood ratios are good?

A

if LR = 1 then test is useless

number should be much higher than 1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is a VUS in genomic study?

A

when someone has a variant of uncertain significance. means that they have a different genetic composition from ‘normal’, but we do not how that affects the person phenotypically

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

describe the components of the cellular innate defence

A 
phagocytyes (macrophages)
dendritic cells
neutrophils
NK cells
other granulocytes like mast cells and, eosinophils and basophils
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what do macrophages do

A

non-activated they help clear cellular debris

once activated they secrete cytokines that activate complement, endothelial cell adhesion molecules, and act as APC in lymph nodes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what kind of cells do NK cells target

A

tumour cells or virally infected cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

why is it that NK cells can kill tumour cells

A

because tumour cells lose MHC I expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what surface molecule inhibit NK cell activity

A

MHC I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what can activated B cells become

A

plasma cells
memory b cells
APC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what is the first antibody that B cells secrete?

A

IgM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what is the process called when B cells increase their fit to the antigen

A

somatic hypermutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what cells activate B cells?

A

T cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what do CD4 and CD8 cells do?

A

CD4 express specific antigens on themselves, the circulate the body looking for APCs with matching antigen

once activate, they can activate B cells, or become CD8 cells, Treg cells or other Th cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

what cells express MHC II molecule?

A

immune cells like T cells, B cells, and APC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what cells express MHC I?

A

self cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

how is an immune response cleared?

A

after pathogen is cleared, cells stop becoming stimulated and naturally apoptose.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

what are 2 mechanisms of cultivating self tolerance?

A

thymic central T cell selection

peripheral tolerance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

what protein is key in central tolerance?

A

AIRE protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

what cell is key in peripheral tolerance?

A

Treg cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

what are 2 ways Treg cells can be made?

A

in the thymus or as progenitors of Cd4 t cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what is the name of a primary loss of central self tolerance?

A

APECED

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

what is the name of the syndrome where peripheral tolerance is lost?

A

IPEX syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

2 other ways that self tolerance can fail other than central and peripheral self-tolerance loss

A

molecular mimicry

or chronic APC stimulation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

describe type 1 2 3 4 hypersensitivity reactions and examples

A

type 1 - IgE mediated, mast cells, histamine release e.g. anaphylaxis

type 2 - IgG-IgM interaction on surface of target cell, tissue specific e.g. goodpastures, myesthaenia gravis,

type 3 - immune complex deposition e.g. SLE, RA, farmers lungs

type 4 - T cell mediated, organ specifice.g. Type 1 diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what is the antigen targeted in goodpastures disease?

A

type 4 collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

what is the pathophysiology of farmers lungs? what type HS?

A

type 3

patient breathes in allergen e.g. hay, triggers immune reaction, produces IgG antibodies against allergen whcih combine with allergen and forms immune complex which gets embedded in alveoli wall

chronic inflammation ensues, causing reduces lung function and clinical symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

acute management of anaphylactic shock?

A

Oxygen
adrenaline IM 0.5 mg in adults
antihistamine IV - chlorphenamine
corticosteroids IV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

what must be measured after anaphylaxis?

A

serum tryptase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what are some primary immunodeficiencies

A

T cells, b cell

antibody, complement, neutrophil deficiencies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

what type of infections are antibody, complement and neutrophils good at?

A

extracellular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

what type of infections would someone be prone to if they are complement deficient?

A

pyogenic infections e.g. streptococcus and HIB

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

what type of infection would complement C5-9 deficiency lead to?

A

meningococcal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

what does eculizumab inhibit?

A

complement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

what does rituximab inhibit?

A

CD20 (B cell)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

what treatment can be done for antibody, complement or neutrophil deficiencies

A

antibiotic, antifungal prophylaxis

Ig replacement

stem cell transplant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

where is complement made?

A

liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

what type of infections would someone with T and B cell deficiencies be prone to?

A

viral, protozoal, intracellular infections, but also extracellular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

how would someone with SCID present?

A

early on in life, around 6 months

with chronic LRTIs, fungal infections, PCP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

what is the problem in autoimmune lymphoproliferative conditions?

A

failure to clear lymphocytes after infections, causing prolonged inflammatory state, causing autoimmune conditions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

3 types of rejection in solid organ transplant

A

hyperacute
acute
chronic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

mediators of each type of rejection in SOT?

A

hyperacute - preformed antibodies

acute - adaptive immune sytem T/B cells

chronic - antibodies, inflammatory system, fibrosis, scarring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

e..g of hyperacute rejection?

A

preformed ABO antibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

what is the most common cause of graft loss?

A

chronic rejection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

how does chronic rejection happen?

A

takes months - years
build up of antibodies, macrophages and fibrosis of organs leading to chronic inflammation, scarring and damage of organ

52
Q

how to prevent SOT rejection?

A

ABO matching
HLA matching if possible
immunosuppresion - acute or chronic treatment

53
Q

what happens in GVHD?

A

grafts with immunocompetent cells attack host systems

54
Q

what kind of transplants can cause gvhd?

A

BM transplant
blood transfusion with irridiation
stem cell transplant

55
Q

pathophysiology of GVHD

A

damage host issue leads to cytokine release, causing recruitment of APCs which stimulate donor T cells. activated lymphocytes then cause immune reaction towards host tissue causing tissue destruction

56
Q

factors associated with increased GVHD

A 
alloreactivity
sex mismatch
donor parity
age of recipient and donor
stem cell source
conditioning of recipient prior to transplant
57
Q

2 types of GVHD

A

acute and chronic

58
Q

where can acute gvhd occur?

A

particularly, skin, gut and liver

59
Q

signs of acute liver gvhd?

A

asymptomatic raised LFTs - bilirubin, alt, ast, alk phos

60
Q

symptoms of acute skin gvhd?

A

painful, erythematous +/- puritic macules

over soles, palms, trunk and limbs

61
Q

symptoms of acute GI GVHD

A

anorexia, dyspepsia, abdominal pain, diarrhea, intestinal bleeding and ileus

62
Q

where can chronic gvhd occur?

A

anywhere

63
Q

how to prevent chronic gvhd?

A

choose best donor
deplete T cells from donor graft
suppress donor t cells with drugs

64
Q

4 types of cell signalling

A

endocrine
paracrine
autocrine
juxtacrine

65
Q

advantages of a multistep signal transduction system?

A

specificity
variability
amplification
redundancy

66
Q

4 types of signal transduction pathways

A

type 1 - ligand gated
type 2 - g protein receptor linked
type 3 - tyrosine kinase linked
type 4 - intracellular

67
Q

examples of each of the 4 types of signal transduction pathway and their ligands

A

type 1 - acetylcholine, nicotinic receptors
type 2 - acetylcholine, muscarinic
type 3 - EGF and EGFR
type 4 - steroid or thyroid hormones

68
Q

what are g protein receptors usually involved with?

A

physiological regulation, senses, eyes smells, neurotransmitters

69
Q

which type is cAMP pathway?

A

G protein coupled receptor

70
Q

how is EGFR linked to cancer cells

A

EGFR is involved in cell proliferation, survival, angiogenesis, repair and metastasis.

cancer cell mutation causes mechanisms that result in over proliferation of the cell

71
Q

5 mechanism related to EGFR that cancer cells exploit to cause over proliferation

A

increased EGFR expression
increased EGF production
heterodimerisation of HER1234 receptors
decreased degradation of receptor complex
mutation in EGFR causing it to be switched on permenantely

72
Q

how does heterodimerisation of HER1234 allow cancer cells to proliferate?

A

homodimers require 2 signalling molecules to produce an effect, heterodimers only require 1 molecule. allowing the cell to do more with less

heterodimers are also more likely to be recyled instead of degraded, thus allowing more of the receptors to exist on the cell surface

73
Q

what are some examples of anti cancer drugs that target EGFR?

A

Herceptin targets HER2, AKA trastuzumab

or tyrosine kinase inhibitors

74
Q

how do type 4 signal transduction receptors work?

A

intracellular receptors, the signalling molecule is able to diffuse accross the cell membrane, binding to an intracellular receptor, forming a complex. this complex travels to the nucleus and acts as a transcription factor, controlling gene expression

75
Q

what are the mediators of endothelial vasodilation and constriction?

A

NO, prostanoids vasodilates

endothelin vasoconstricts

76
Q

describe the pathophysiology of atherosclerosis

A

damage to endothelium causes inflammatory response to the area, attracting macrophages. macrophages endocytose lipids and migrate under endothelium layer. eventually macrophage becomes foam cell as it consumes more lipids. within tunica media, it forms a large lipid rich core and starts to necrote as a fibrous plaque forms around it. plaque will be prone to rupture causing thrombus and exposure of endothelium, triggering clotting cascade and increasing risk of stroke and infarcts

77
Q

what is the pro-clotting factor stored in endothelium called?

A

von willebrand factor

78
Q

what values for +LR and -LR are useful?

A

for +LR: anything more than 1, higher is better

for -LR: less than 1, closer to 0 is btter

79
Q

in what situations would doing tests be useful?

A

when pre-test probability is intermediate, not very sure of either

80
Q

what kind of anaemia does CKD show?

A

normocytic

81
Q

what is ESR?

A

distance fallen by RBC in a test tube after 60 mins

82
Q

what causes RBC to fall further? i.e. higher ESR

A

“sticky” RBC causing them to clump and fall faster

83
Q

what is a significantly raised ESR?

A

usually >100

84
Q

what will be the ESR and CRP of someone with SLE?

A

high ESR low CRP

85
Q

compared to an elderly person would a young person need to have higher or lower creatinine to have a lower EGFR?

A

higher

86
Q

a rise in ALP but normal GGT indicates what kind of pathology?

A

bone

87
Q

main causes of hypercalcaemia?

A

malignancy
ectopic PTH
boney mets
hyperparathyroidism

88
Q

what is a common drug that can cause raised CK

A

statin

89
Q

what is lactase dehydrogenase a marker of?

A

malignancy

90
Q

whats the most important prognostic marker in sepsis

A

lactate

91
Q

when analysing chest xray what is

DR

PE

ABCDEFGHI

A

Demographics/patient details/date

Rotation

Position

Exposure

Airways

Bones and soft tissue

Cardiac

Diaphragm

Effusions

Fields and fissures

Great vessels

Hilar and mediastinum

Impression (overall)

92
Q

in anaphylaxis what is the strength dose route and volume of epinephrine required?

A

1:1000 0.5 mg 0.5ml IM

93
Q

after anaphylaxis, how long does it take for tryptase to return to normal?

A

2 days

94
Q

after anaphylactic shock what should patients be prescribed? how many? dose?

A

2x epipen, 0.3 mg

95
Q

most common ECG finding in PE

A

sinus tachy

96
Q

according to RCOG what is the pathway for pregnant woman with suspected PE?

A

clinical assessment, CXR, ECG, bloods

check for signs of DVT, if have DVT, give LMWH

if no signs of DVT, check if CXR is normal, if CXR is normal do V/Q if CXR is abnormal do CTPA. Once PE confirmed, give LMWH

97
Q

what is a saddle embolus a sign of?

A

PE

98
Q

what are indiciations for CT head within 1 hour, according to NICE?

A 
GCS <13 at ED or <15 after 2 hours
?skull fracture
?basal skull fracture
post traumatic seizure
focal neurological deficit
>1 episode of vomiting
99
Q

what are some signs of basal skull fracture?

A

Battle’s sign
panda eyes
haemotypmanum
CSF leak

100
Q

what are indiciations for CT C spine within 1 hour, according to NICE?

A

– GCS <13 on initial assessment
– Intubated
– Xrays inadequate (e.g. unable to position)
– Xray looks abnormal/suboptimal
– Definitive answer is needed (i.e. pre surgery)
– If they need multifocal CT as part of trauma investigation
– Alert and:
• 65+
• Dangerous mechanism
• Focal neurology in upper limbs
• Paraesthesia in upper limbs

101
Q

what are the signs and symptoms of DiGeorge’s syndrome?

A

CATCH 22

22q11.1 deletion

cardiac abnormalities
abnormal facies
thymic aplasia
cleft palate
hypocalcaemia/hypoparathyroidism
102
Q

pathophysiology of digeorge syndrome

A

malformation of the 3rd and 4th pharyngeal arches, these usually give rise to the aortic arch, thymus and parathyroid gland.

103
Q

how is digeorge syndrome diagnosed

A

if clinically indicated, then usually by FISH

104
Q

how does digeorge syndrome present?

A

facial defects, congenital heart defects, recurrent infections (protozoa or fungal), hypocalcaemia

105
Q

what cells are responsible for acute rejection?

A

CD4 and CD8 t cells

106
Q

signs of acute organ rejection

A

beginning few days to weeks after transplant, patient feels systemically unwell, then signs of target organ failure (e.g kidney, liver, lung),

107
Q

primary pathophysiology in chronic rejection?

A

fibrosis or sclerosis of organ

108
Q

why might a leukaemic patient develop a lichenoid rash post transplant?

A

GvHD

109
Q

greatest risk factor for development of cancer?

A

diet

110
Q

what is the main carcinogenic substance produced in chronic inflammation?

A

reactive oxygen species

111
Q

which cancer does smoking not cause an increased risk?

A

endometrial

112
Q

which UV band is the most common carcinogenic factor (A B C?)

A

UV-B

113
Q

difference between oncogene and TSG?

A

oncogenes are mutated protooncogenes, these genes typically stimulate cell proliferation. only require 1 mutation to cause disease

TSG in health, suppress cell proliferation. require 2 mutations to cause disease

114
Q

which type of gene is commonly implicated in inheritable cancer gene predispositions TSG or oncogenes?

A

TSG

115
Q

what type of gene is BRCA1/2 TSG or oncogene?

A

TSG

116
Q

what type of gene is BCR-ABL?

A

oncogene

117
Q

how can PARP1 be used as a therapeutic target?

A

a mutated BRCA gene loses its ability to repair double stranded DNA breaks, but relies on PARP1 to repair single stranded breaks. in a cancer cell with BRCA mutation, by using a drug to inhibit PARP1, it will cause single stranded breaks to become double stranded breaks which makes the cell non-viable.

118
Q

what does the BRCA1/2 gene do in health?

A

repair DNA damage,

119
Q

how to calculate true positive rate?

A

sensitivity

120
Q

how to calculate false negative rate?

A

1-sensitivity

121
Q

how to calculate false positive rate

A

1-specificity

122
Q

how to calculate true negative rate?

A

specificity

123
Q

what are the 3 criteria in the billingham criteria

A

graft has too many immunocompetent cells
receipient expresses antigen not found in the donor
patient is immunosuppresed and unable to reject graft

124
Q

types of 2nd messenger pathways

A

Ca2
DG, IP3
cAMP, cGMP
ras, JAK, Raf

125
Q

what is transtuzumab also known as?

A

herceptin

4 CSIM2 (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions