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MRCP part 1 > Immunology/genetics/other dreaded topics > Flashcards

Immunology/genetics/other dreaded topics Flashcards

1
Q

Type I hypersensitivity

A

Antigen reacts with IgE bound to mast cells
- Anaphylaxis
- Atopy

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2
Q

Type II hypersenitivity

A

IgG or IgM binds to antigen on cell surface
- Autoimmune haemolytic anaemia
- Pernicious anaemia
- ITP
- Goodpasture’s
- Pemphigus / pemphigoid
- Rheumatic fever

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3
Q

Type III hypersensitivity

A

Free antigen and antibody (IgG, IgA) combine
- SLE
- Post-strep glomerulonephritis
- Extrinsic allergic alveolitis

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4
Q

Type IV - Delayed hypersensitivity

A

T cell mediated
- TB
- Graft versus host
- Allergic contact dermatitis
- MS
- Guillain Barre

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5
Q

‘Type VI’

A

Antibodies that recognise and bind to the cell surface receptors.
- Myasthenia Gravis
- Grave’s disease

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6
Q

Cardiac AP - rapid depolarisation

A

rapid influx of sodium

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7
Q

Cardiac AP - early repolarisation

A

efflux of potassium

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8
Q

Cardiac AP - plateau

A

slow influx of calcium

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9
Q

Cardiac AP - final repolarisation

A

efflux of potassium

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10
Q

Cardiac AP - restoration of ionic concentrations

A

by Na/K ATPase
slow influx of sodium until threshold for new AP reached

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11
Q

Plasma cells

A

Mature B-lyphocytes
produce IgE to stimulate eosinophils

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12
Q

Turner syndrome karyotype

A

45 X

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13
Q

Turner syndrome phenotype

A

webbed neck
shield chest, wide nipples
low hairline
renal abnormalities
Aortic dissection
Coarctation
Bicuspid aortic valve
autoimmune diseases
Gastrointestinal disorders/predispositions

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14
Q

Triple X karyotype

A

47 XXX

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15
Q

Triple X phenotype

A

tall
slightly redced intelligence
speech delayed
increased incidence of premature ovarian failure

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16
Q

Klinefelter karyotype

A

47 XXY

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17
Q

Klinefelter phenotype

A

hypergonadotrophic-hypogonadism
small testes
poor growth of facial and body hair
mild developmental delay, behavioural problems
female distribution of fat and hair

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18
Q

Down syndrome karyotype

A

Trisomy 21

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19
Q

Down syndrome phenotype

A

single palmar crease
brachycephaly
upslanting palpebral fissures
brushfield spots
hypotonia
AVSDs
ALL/AML
Hypothyroid

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20
Q

Edwards syndrome karyotype

A

trisomy 18

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21
Q

Edwards syndrome phenotype

A

rockerbottom feet
malformations
profound learning disability
survival beyond infancy rare

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22
Q

Patau syndrome karyotype

A

Trisomy 13

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23
Q

Patau phenotype

A

CNS abnormalities
microphthalmia
renal abnormalities
congenital heart disease
survival beyond infancy rare

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24
Q

DiGeorge syndrome

A

microdeletion 22q11

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25
Q

DiGeorge syndrome phenotype

A

parathyroid hypoplasia
thymus hypoplasia
congenital cardiac malformation
cleft palate
learning disability

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26
Q

Williams syndrome

A

microdeltion elastin gene chromosome 7

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27
Q

Williams syndrome phenotype

A

supravalvular aortic stenosis
hypercalcaemia
learning disabliity with chatty social nature

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28
Q

Autosomal recessive

A

mutation in both alleles
Where both parents are carriers: 50% chance of child being a carrier
25% chance of child being affected

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29
Q

Autosomal dominant

A

Mutation of one allele
50% chance of affected parent having an affected child

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30
Q

Autosomal recessive conditions

A

CF
Fanconi’s anaemia
Haemochromatosis
Sickle cell anaemia
Wilson’s disease

Most metabolic disorders are autosomal recessive but there are exceptions

31
Q

Autosomal dominant conditions

A

Achondroplasia
Ehlers-Danlos
Gilbert
Huntingtons
Marfans
Neurofibromatosis 1 & 2
Tuberous sclerosis
Von Willebrand

32
Q

X-linked genetic conditions

A

most commonly affect males as only one copy of X
No male to male transmission obv
Daughters of affected male are obligate carriers obv

33
Q

X-linked recessive conditions

A

Becker MD
Duchenne MD
Fabry
G6PD deficiency
Haemophilia A and B
Lesch-Nyan
Red-green colour blindness

34
Q

X-linked dominant

A

all offspring of affected female 50% chance of being affected

35
Q

X-linked dominant conditions

A

Vitamin D resistant rickets
Rett syndrome

36
Q

Main component of surfactant

A

DPPC

37
Q

Interleukin 1 mainly released by…

A

Macrophages and monocytes

38
Q

Rough endoplasmic reticulum

A
  • translation, folding of proteins
  • manufacture of lysosomal enzymes
  • N-linked glycolysation
  • extesnive in pancreatic cells, goblet cells, plasma cells
39
Q

Smooth endoplasmic reticulum

A
  • Steroid and lipid synthesis
  • extensive in adrenal cortex, hepatocytes, testes, ovaries
40
Q

Golgi apparatus

A
  • Modifies, sorts and packages molecules for secretion
  • Add monnose-6-phosphate to proteins which are to be transported to lysosome
41
Q

Mitochondrion

A

aerobic respitration

42
Q

Nucleus

A

DNA maintenance
RNA transcription
RNA splicing

43
Q

Nucleolus

A

ribosome production

44
Q

Lysosome

A

breakdown of large molecules

45
Q

Ribosome

A

translation of RNA into proteins

46
Q

Peroxisome

A

catabolism of long chain fatty acids
formation of hydrogen peroxide

47
Q

Proteasome

A

degrades proteins that have been tagged with ubiquitin

48
Q

Oncogene - ABL

A

CML

49
Q

Oncogene - c-MYC

A

Burkitts lymphoma

50
Q

Oncogene - nMYC

A

Neuroblastoma

51
Q

Oncogene - BCL-2

A

Follicular lymphoma

52
Q

Oncogene - RET

A

MEN type II and III

53
Q

Oncogene - RAS

A

Pancreatic cancer

54
Q

Oncogene - HER2

A

Breast and ovarian cancer

55
Q

Tumour suppressor gene - p53

A

Li-Fraumeni syndrome (early onset breast cancer, sarcoma, leukaemia)
Most commonly mutated in breast, colon and lung cancer

56
Q

Tumour suppressor gene - APC

A

Colorectal cancer

57
Q

Tumour suppressor gene - BRCA 1 and 2

A

Breast and ovarian cancer
(prostate and breast in men)

58
Q

Tumour suppressor gene - NF1

A

Neurofibromatosis

59
Q

Tumour suppressor gene - Rb

A

Retinoblastoma

60
Q

Tumour suppressor gene - WT1

A

Wilms tumour

61
Q

Tumour suppressor gene - multiple tumour suppressor gene

A

Melanoma

62
Q

Hyperacute organ rejection

A

B cells
Type II hypersensitivity

63
Q

Acute graft failure (<6 mnths)

A

cytotoxic T cells

64
Q

Chronic graft failure (>6 months)

A

Antibody and cell mediated

65
Q

Mitochondrial diseases

A
66
Q

Pellagra

A

Niacin (B3) deficiency
Diarrhoea
Dermatitis
Dementia

67
Q

Homocystinuria

A

Autosomal recessive
tall, long fingered, learning difficulties, DVT, downward lens dislocation

68
Q

IgD

A

Mechanism unknown
Activates B cells

69
Q

IgA

A

Most commonly produced
Low serum levels
Found in bodily secretions

70
Q

IgE

A

Made by plasma cells
Mediator in type I hypersensitivity
Activates Eosinophils

71
Q

IgG

A

Most abundant in serum
Acts strongly against viral and bacterial infections
Activates complement cascade
Involved in type ii and iii hypersensitivity

72
Q

IgM

A

Initial immunoglobulin released in response to infection
Responsible for agglutination in ABO mismatch

73
Q

Cytokine implicated in sepsis/septic shock

A

IL-1
Sepsis -> IL-1 release -> vasodilation -> hypotension and shock

74
Q

Cytokine implicated in fever relating to sepsis

A

IL-6

MRCP part 1 (15 decks)

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