Clinical Science Flashcards

1
Q

Symptoms and Mx of hereditary angioedema

A

Painful macular rash followed by painless subcutaneous/submucosal swelling. May have abdo pain from visceral swelling
Mx: IV C1-inh concentrate or FFP if not available
Steroids may help prophylaxis

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2
Q

Action of alpha-1 adrenoceptor

A

Vasoconstriction
GI sm relaxation
Salivary secretion

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3
Q

Action of beta1 and beta2 adrenoceptors

A

Beta-1: in the heart, positively chronotropic and ionotropic

Beta-2: vasodilatation, bronchodilation, relax GI sm

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4
Q

Causes of hyperuricaemia

Associations with hyperuricaemia

A

Increased production: high purine diet, increased cell turnover, cytotoxics, psoriasis, exercise, myeloproliferative disease
Decreased excretion: renal failure, lead, alcohol, aspirin, diuretics, pre-eclampsia
Associations: HTN, hyperlipidaemia, metabolic syn

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5
Q

Genetic abnormality and symptoms of kleinfelters

A

47 XXY

Tall, infertile, gynaecomastia, small hard testes, lack secondary sexual characteristics, increased gonadotropin levels

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6
Q

name the gram positive rods

what’s the mneumonic

A
A - actinomyces
B - bacillus anthracis
C - clostridium
D - diphtheria (corynebacterium diphththeriae)
L - listeria monocytogenes
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7
Q

which antibiotic is active against both MRSA and VRE (vanc resistant enterococci)?
how does it work?
SEs

A

linezolid
inhibits bacterial protein synthesis therefore bacteriostatic
also effective against GISA (Glycopeptide Intermediate Staphylococcus aureus)
thrombocytopenia, monoamine oxidase inhibitor

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8
Q

Hereditary angioedema: inheritance, what’s the problem, investigations during attacks and between them

A

Auto dom
Low C1 inhibitor
During attacks: low C1-inh
Between attacks: low C4 (and C2)

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9
Q

What is the role of the p53 gene?

What is the effect of its mutation?

A

Tumour suppressor gene
Mutation seen in breast, colon and sarcomas
Mutation seen in Li-Fraumeni syndrome (lots of cancers)

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10
Q

type 1 hypersensitivity

pathology, example

A

Anaphylaxis
antigen reacts to IgE on mast cells
anaphylaxis, atopy

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11
Q

type 2 hypersensitivity

pathology, example

A

Cell Bound
IgG or IgM binds to antigen
Goodpasture’s, pernicious anaemia, acute haemolytic transfusion reaction

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12
Q

Type 3 hypersensitivity

pathology, example

A

Immune complex
free antigen and antibody (IgA, IgG) form complex
SLE, EAA, post strep glomerulonephritis

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13
Q

Type 4 hypersensitivity

pathology, example

A

Delayed hypersensitivity
T cell mediated
Graft vs host, allergic contact dermatitis, MS, Guillian-Barre syn

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14
Q

Type 5 hypersensitivity

pathology, example

A

Autoimmune
Antibodies recognise and stimulate or block cell receptors
Graves, myasthenia gravis

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15
Q

Give examples of live attenuated viruses (7)

A
BCG
MMR
influenza (intranasal)
rotavirus
polio
yellow fever
typhoid
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16
Q

Mx of eclampsia

A

IV magnesium sulphate

should be given once decision to deliver has been made

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17
Q

what is rheumatoid factor?

A

IgM antibody against IgG

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18
Q

Action of antiemetics:
Ondansetron
Metoclopramide
Cyclizine

A

Ondansetron - 5HT3 r antagonist
Metoclopramide - D2 r antagonist
Cyclizine - H1 r antagonist

19
Q

HLA associations:
A3
B5
B27

A

A3 - haemochromatosis
B5 - Bechet’s
B27 - ank spond, reiter’s syn, acute ant uveitis

20
Q
HLA associations
DQ2/DQ8
DR 2
DR 3 
DR 4
A

DQ2/DQ8 - coeliacs
DR 2 - narcolepsy, goodpastures
DR 3 - dermatitis herpetiformis, Sjögren’s syndrome, primary biliary cirrhosis
DR 4 - T1DM, RA

21
Q

what are the LH and FSH levels in Kleinfelters and Kallman’s?

A

Kleinfelters (47 XXY) - raised LH and FSH

Kallman’s (hypogonadotrophic hypogonadism) - inappropriately low-normal LH and FSH

22
Q

What is the pathology of Kallman’s syndrome?

features?

A

x-linked recessive
failure of GnRH secreting neurones to migrate down into hypothalamus
anosmia
‘delayed puberty’
hypogonadism
low sex hormones and inappropriately low LH and FSH

23
Q

What is premature ovarian failure?

A

onset of menopausal features before 40

elevated FSH and LH

24
Q
Complement deficiencies; what is the effect
C1 inhibitor deficiency
C3 def
C5 def
C5-9 def
A

C1 inh deficiency - hereditary angiodema
C3 deficiency - recurrent bacterial infections
C5 deficiency - Leiner disease (severe seborrheic dermatitis, diarrhoea, infections)
C5-9 def - encodes the membrane attack complex (MAC) prone to N.meningitidis infection

25
Q

Which immunoglobulin has the highest and lowest concentration in the blood?
what are the roles of IgA, D,E,G,M?

A

IgG - most (75%). Monomer, enhances phagocytosis
IgA - monomer/dimer. found in secretions.
IgM - anti A and B antibodies. pentamer
IgD - activates B cells. monomer
IgE - least. involved in allergic reactions.

26
Q

what is endothelin?

in which diseases are the levels raised?

A

potent vasoconstrictor and bronchoconstrictor

MI, primary pulmonary hypertension, HF, raynauds, ARF, asthma

27
Q

What promotes and inhibits endothelin release

A

endothelin (a potent vaso- and broncho-constrictor)

promotes: angiotensin II, vasopressin (ADH), hypoxia, mechanical sheering forces
inhibits: nitric oxide, prostacyclin

28
Q

What does the cyanide-nitroprusside test identify?
features
treatment

A

To identify cystine in the urine (cystinuria)
- autosomal recessive, leads to renal stones.
Rx by hydration, D-penacillamine, urine alkalisation

29
Q

what is the enzyme deficiency in homocystinuria?

what is the amino acid affected?

A

cystathionine beta synthase (CBS) deficiency

methionine

30
Q

features of homocystinuria

treatment

A

cystathionine beta synthase (CBS) enzyme deficiency
marfanoid appearance, learning difficulties, downwards dislocation of the lens, increased arterial and venous thomboembolism
Rx with pyridoxine (B6)

31
Q

normal distribution
how many values lie in 1SD? 2SD? 3SD?
how do you calculate SD?

A

1SD - 68.3%
2SD - 95.4%
3SD - 99.7%
SD = square root (variance)

32
Q

what is the amount of sodium and chloride in normal saline?

how much salt do we need per day?

A

150mmol/l of Na and Cl

need 6g of salt/day

33
Q

how much Na Cl K and bicarb is there in hartmann’s solution?

A

Na 131
Cl 111
K 5
HCO3 29

34
Q

what are the features of pseudoxanthoma elasticum?

A

auto rec abnormality in elastin fibres
plucked chicken skin appearance - small yellow papules on neck and axillae
retinal angoid streaks
cardiac: mitral valve prolapse, increased risk of IHD
GI haemorrhage

35
Q

What are T-helper 1 cells involved in and what do they secrete?

A

Th1 - involved with cell mediated response (type 4 hypersensitivity)
secrete IFN-gamma, IL-2, IL-3

36
Q

What are T-helper 2 cells involved in and what do they secrete?

A

Th2 - involved with humoral (antibody) immunity

secrete IL 4/5/6/10/13

37
Q

What is the main action of atrial natriuretic peptide

A

powerful vasodilator

also promotes sodium excretion and antagonises angiotensin II and aldosterone.

38
Q

what would you test for to establish an anaphylaxis reaction?

A

serum tryptase

39
Q

how do you calculate standard error?

A

SD/ square root (number of subjects)

standard error gets smaller as the sample size increases.

40
Q

Mechanism of clopidogrel

A

inhibits ADP binding to platelet receptors, inhibiting platelet activation
concurrent use of PPIs makes clopidogrel less effective

41
Q

Dx and Mx of Wilson’s disease

A

Dx: low caeruloplasmin, raised urinary copper excretion
Mx: penacillamine or trientine (chelates copper)

42
Q

In statistics what is a type 1 error?

A

null hypothesis is rejected when it is true (false positive)

found if the study has too many end points

43
Q

In statistics what is a type 2 error?

A

accepting null hypothesis when it is false (false negative)

found if the sample is too small