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MRCP Part 1 > Clinical sciences > Flashcards

Clinical sciences Flashcards

1
Q

What features are associated with homocysteinuria?

A 
Downward lens dislocation
Myopia
DVT/aretrial thrombosis
learning difficulty
seizures
Fine fair hair
Arachnodactyly
OP
kyphosis
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2
Q

What is the treatment of homcytseinuria

A

vitamin B6 (Pyridoxine)

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3
Q

What is power?

A

The probability of detecting a statistically significant difference

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4
Q

What is a confidence interval?

A

Two numbers in between which the true value lies

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5
Q

What is the p value

A

The probability of obtaining a result by chance at least as extreme as the one that was actually observed, assuming that the null hypothesis is true

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6
Q

Describe X linked recessive conditions

What is the exception to the rule?

A

if male has it then he has the disease as only has 1 X chromosome

(only males are affected)

Females can only be carriers

Exception = turner’s syndrome as only 1 X chromosome

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7
Q

Commonest cardiac defect in T21?

A

Endocardial cushion defect

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8
Q

What is the mechanism of metabolic alkalosis in hyperaldosteronism?

A

aldosterone causes reabsorption of Na+ in exchange for H+ in the distal convoluted tubule

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9
Q

Two examples of type 4 hypersensitivity reactions + mechanism

A 
Tuberculin skin test
Graft vs host disease
GBS
Scabies
Allergic contact dermatitis

Mechanism: T cell mediated

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10
Q

Homocysteinuria lens dislocation?

A

Downward

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11
Q

Examples of type 2 hypersensitivity reactions + mechanism

A
  • Autoimmune haemolytic anaemia
  • ITP
  • Goodpasture’s syndrome
  • Pernicious anaemia
  • Acute haemolytic transfusion reactions
  • Rheumatic fever
  • Pemphigus vulgaris / bullous pemphigoid

Mechanism: Cell bound - IgG/M binds to antigen on cell surface

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12
Q

Machnism + example of T3 hypersensitivity reaction

A
  • Serum sickness
  • Systemic lupus erythematosus
  • Post-streptococcal glomerulonephritis
  • Extrinsic allergic alveolitis (especially acute phase)

Mechanism: Immune complex - Free antigen and antibody (IgG, IgA) combine

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13
Q

Mechanism of T1 hypersensitivity reaction

A

IgE mediated (bound to mast cell)

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14
Q

Vitamin B1 =

A

Thiamine (you always forget)

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15
Q

T5 hypersensitivity reaction

A

Myasthaenia gravis

Graves disease

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16
Q

Commonest cause of trisomy 21

A

Non dysjunction

17
Q

How to calculate power of the study?

A

1 - the probability of a type II error

18
Q

What are 4 problems associuated

A

Wernicke’s encephalopathy: nystagmus, ophthalmoplegia and ataxia
Korsakoff’s syndrome: amnesia, confabulation
dry beriberi: peripheral neuropathy
wet beriberi: dilated cardiomyopathy

19
Q

What is the presentation of dry beriberi?

A

Peripheral neuropathy

20
Q

What is the presentation of wet beriberi?

A

Dilated cardiomyopathy

21
Q

How to calculate anion gap?

A

[Na + K] - [HCO3 + Cl]

22
Q

Treatment of methanol poisoning

A

Ethanol or fomepizole

23
Q

What conditions are associated with HLA DR4

A

T1DM

RA

24
Q

What condition is associated with HLA DQ2/DQ8

A

Coeliac disease

25
Q

In X linked recessive disease what can an affected father only have?

A

A carrier daughter (Xx)
An unaffected son (xy) - as gives the y to him

(technically rare to have an affected father with a heterozygous mother)

26
Q

What does IFN gamma do?

A

Activates macrophages

27
Q

What type of receptor does insulin bind to?

A

Tyrosine kinase receptor

28
Q

What does tropinin C, T and I bind to?

A

C: calcium
T: tropomysin
I: actin

29
Q

Treatment of homocysteinuria

A

vit B6 (pyridoxine) suppliments

30
Q

What structure overlies L renal hilum?

A

tail of pancreas

31
Q

how does alcohol cause hypoglycaemia?

A

Increased first-phase insulin response

32
Q

In Duchenne’s and Becker’s muscular dystrophy what is the mechanism?

A

Telomere shortening in muscle stem cells

33
Q

What is a defining feature of kallmann syndrome?

A

ANOSMIA

34
Q

What is the risk of CF mother having a child with CF (assuming dad is general population risk of carrier [1 in 20])?

A

1 in 40

35
Q

How does IgG4 deficiency present?

A

Recurrent sinus + pulmonary infections

20% have asthma

MRCP Part 1 (19 decks)

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