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MRCP Part 1 > Clinical Science > Flashcards

Clinical Science Flashcards

1
Q

Features of congenital rubella

A

Classical

  • > Sensorineural deafness
  • > Congenital cataracts
  • > Congenital heart disease (e.g. PDA)
  • > Glaucoma

Other

  • > Growth retardation
  • > Hepatosplenomegaly
  • > Purpuric skin lesions
  • > ‘Salt and pepper’ chorioretinitis
  • > Microphthalmia
  • > Cerebral palsy
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2
Q

Features of congenital toxoplasmosis

A

Classical

  • > Cerebral calcification
  • > Chorioretinitis
  • > Hydrocephalus

Other

  • > Anaemia
  • > Hepatosplenomegaly
  • > Cerebral palsy
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3
Q

Features of congenital cytomegalovirus

A

Most common congenital infection in UK. Mother asymptomatic.

Classical

  • > Growth retardation
  • > Purpuric skin lesions

Other

  • > Sensorineural deafness
  • > Encephalitis/seizures
  • > Pneumonitis
  • > Hepatosplenomegaly
  • > Anaemia
  • > Jaundice
  • > Cerebral palsy
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4
Q

Definition of confidence interval

A

A range of values within which the true effect of intervention is likely to lie.

Eg. a confidence interval at the 95% confidence level means that the confidence interval should contain the true effect of intervention 95% of the time

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5
Q

How to calculate 95% confidence interval

A

Lower limit = Mean - (1.96 x SD)
Upper limit = Mean + (1.96 x SD)

  • For 90% use 1.645 *
    • If n<100, check Student T test critical value table instead on 1.96)
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6
Q

Definition of standard error of the mean (SEM)

A

Measure of the spread expected for the mean of the observations

Ie. how ‘accurate’ the calculated sample mean is from the true population mean

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7
Q

How to calculate SEM

A

SEM = Standard deviation/ Square root (sample size)

=> SEM gets smaller as sample size gets bigger

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8
Q

When to use Students T- test

A

Parametric data.

Paired -> Data observed from a single group eg. measurements before and after an intervention

Unpaired -> Data observed from 2 separate groups eg. comparing an intervention in 2 different groups.

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9
Q

When to use Pearson’s product-moment coefficient

A

Parametric correlated data

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10
Q

When to use Mann-Whitney U test

A

Non-parametric unpaired data.

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11
Q

When to use Wilcoxon signed rank test

A

Non parametric data. Compares 2 sets of observations on a single sample

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12
Q

When to use chi-squared test

A

Non parametric data. Used to compare percentages and proportions

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13
Q

When to use spearman, Kendal rank

A

Non-parametric correlated data

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14
Q

What is pre-test probability?

A

The proportion of people with the target disorder in the population at risk at a specific time (point prevalence) or time interval (period prevalence)

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15
Q

What is post-test probability?

A

The proportion of patients with that particular test result who have the target disorder

Post-test probability = post test odds / (1 + post-test odds)

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16
Q

What is the pre-test odds?

A

The odds that the patient has the target disorder before the test is carried out

Pre-test odds = pre-test probability / (1 - pre-test probability)

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17
Q

What is the post-test odds?

A

The odds that the patient has the target disorder after the test is carried out

Post-test odds = pre-test odds x likelihood ratio

where the likelihood ratio for a positive test result = sensitivity / (1 - specificity)

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18
Q

Flying recommendations: unstable angina, uncontrolled hypertension, severe valvular disease, uncontrolled arrhythmia, decompensated heart failure

A

Should not fly

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19
Q

Flying recommendations: uncomplicated MI

A

After 7-10 days

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20
Q

Flying recommendations: complicated MI

A

After 4-6 wks

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21
Q

Flying recommendations: coronary artery bypass

A

After 10-14 days

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22
Q

Flying recommendations: PCI

A

After 5 days

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23
Q

Flying recommendations: pneumonia

A

Should be clinically improving with no residual infection

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24
Q

Flying recommendations: pneumothorax

A

Absolute contraindication.

CAA -> 2 weeks for drainage with no residual air
BTS -> 6 wk post pneumothorax/1wk post check XR

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25
Q

Flying recommendations: pregnancy

A

Allowed up to 36 wk for single pregnancy
Allowed up to 32 wk for multiple pregnancy
Often need certificate after 28 wk to say pregnancy progressing normally

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26
Q

Flying recommendations: abdominal surgery

A

After 10 days

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27
Q

Flying recommendations: laproscopic surgery

A

After 24hr

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28
Q

Flying recommendations: colonoscopy

A

After 24 hr

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29
Q

Flying recommendations: following application of plaster cast

A

After 24hr if <2hr flight

After 48hr if >2hr flight

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30
Q

Flying recommendations: haematological conditions

A

Hb > 80

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31
Q

Inheritance of haemophilla A

A

X-linked recessive

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32
Q

S&S Cushings reflex

A

Hypertension (s) then bradycardia (ps)

Physiological reflex to raised ICP

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33
Q

What produces IFN-alpha

A

Leukocytes

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34
Q

What produces IFN-beta

A

Fibroblasts

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35
Q

What produces IFN-gamma?

A

T cells & NK cells

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36
Q

Action of IFN-alpha

A

Antiviral. Acts on type 1 receptors

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37
Q

Action of IFN-beta

A

Antiviral. Acts on type 1 receptors

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38
Q

Action of IFN-gamma

A

Weaker antiviral. More of a role in immunomodulation and in particular macrophage activation. Acts on type 2 receptors

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39
Q

Uses of IFN-alpha

A

Useful in hepatitis B & C, Kaposi’s sarcoma, metastatic renal cell cancer, hairy cell leukaemia

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40
Q

Uses of IFN-beta

A

Reduces frequency of exacerbations of relapsing-remitting MS

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41
Q

Uses of IFN-gamma

A

May be useful in chronic granulomatous disease and osteopetrosis

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42
Q

Side effects of IFN-alpha

A

Flu-like symptoms & depression

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43
Q

Autosomal recessive conditions

A

Metabolic conditions except INCLUDES inherited ataxias & EXCLUDES Hunters & G6DP deficiency (X-linked) and hyperlipidaemia type II & hypokalaemia periodic paralysis (AD)

The following conditions are autosomal recessive:
Albinism
Ataxic telangiectasia
Congenital adrenal hyperplasia
Cystic fibrosis
Cystinuria
Familial Mediterranean Fever
Fanconi anaemia
Friedreich's ataxia
?? Gilbert's syndrome ??
Glycogen storage disease
Haemochromatosis
Homocystinuria
Lipid storage disease: Tay-Sach's, Gaucher, Niemann-Pick
Mucopolysaccharidoses: Hurler's
PKU
Sickle cell anaemia
Thalassaemias
Wilson's disease
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44
Q

Cause of Turners syndrome

A

Caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes.

Denoted as 45,XO or 45,X

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45
Q

Features Turners syndrome

A

Short stature
Shield chest, widely spaced nipples
Webbed neck
Bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
Primary amenorrhoea
Cystic hygroma (often diagnosed prenatally)
High-arched palate
Short fourth metacarpal
Multiple pigmented naevi
Lymphoedema in neonates (especially feet)
Gonadotrophin levels will be elevated

There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease

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46
Q

What is Fabry (Anderson-Fabry) disease?

A

X-linked recessive condition
Deficiency of alpha-galactosidase A

Characterised by abnormal deposits of a particular fatty substance called globotriaosylceramide in blood vessel walls throughout the body.

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47
Q

Features of Fabry disease

A 
Limb pain
Sensory neuropathy
Raynaud's disease
Cardiac arrhythmias, cardiomyopathy 
Nephrotic syndrome
Dermatological manifestation; angiokeratomas, Anhidrosis, cornea verticillate
Burning pain/paraesthesia in childhood
Angiokeratomas
Lens opacities
Proteinuria
Early cardiovascular disease
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48
Q

What is sensitivity?

A

Proportion of patients with the condition who have a positive test result

TP/(TP+FN)

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49
Q

What is specificity?

A

Proportion of patients without the condition who have a negative test result

TN/(TN+FP)

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50
Q

What is positive predictive value?

A

The chance that the patient has the condition if the diagnostic test is positive

TP/(TP+FP)

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51
Q

What is negative predictive value?

A

The chance that the patient does not have the condition if the diagnostic test is negative

TN/(TN+FN)

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52
Q

What is likelihood ratio for a positive test result?

A

How much the odds of the disease increase when a test is positive

sensitivity / (1 - specificity)

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53
Q

What is likelihood ratio for a negative test result?

A

How much the odds of the disease decrease when a test is negative

(1 - sensitivity) / specificity

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54
Q

Properties of normal population

A

Symmetrical i.e. Mean = mode = median

  1. 3% of values lie within 1 SD of the mean
  2. 4% of values lie within 2 SD of the mean
  3. 7% of values lie within 3 SD of the mean
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55
Q

What is homocystinuria

A

Rare AR disease caused by deficiency of cystathionine beta synthase. This results in an accumulation of homocysteine which is then oxidized to homocystine

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56
Q

Features of homocystinuria

A

Often patients have fine, fair hair
Musculoskeletal: may be similar to Marfan’s - arachnodactyly etc
Neurological patients may have learning difficulties, seizures
Ocular: downwards (inferonasal) dislocation of lens
Increased risk of arterial and venous thromboembolism
Also malar flush, livedo reticularis

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57
Q

How to diagnose homocystinuria

A

Cyanide-nitroprusside test (which is also positive in cystinuria)

58
Q

Treatment of homocystinuria

A

Vitamin B6 (pyridoxine) supplements

59
Q

Source, stimulus & action of Gastrin

A

Source -> G cells in antrum of stomach

Stimulus -> Distension of stomach, vagus nerve, intraluminal peptides/amino acids

Inhibited by -> Low antral pH, somatostatin

Action -> Increase HCL, pepsinogen and IF secretion, increases gastric motility, stimulates parietal cell maturation

60
Q

Source, stimulus & action of CCK

A

Source -> I cells in upper small intestine

Stimulus -> Partially digested protein and triglycerides

Action -> Increases secretion of enzyme-rich fluid from pancreas, contraction of gallbladder and relaxation of sphincter of Oddi, decreases gastric emptying, trophic effect on pancreatic acinar cells, induces satiety

61
Q

Source, stimulus & action of Secretin

A

Source -> S cells in upper small intestine

Stimulus -> Acidic chime, fatty acids

Action -> Increases secretion of bicarbonate-rich fluid from pancreas and hepatic duct cells, decreases gastric acid secretion, trophic effect on pancreatic acinar cells

62
Q

Source, stimulus & action of VIP

A

Source - > Pancreas, small intestine

Stimulus -> Neural

Action -> Stimulates secretion by pancreas and intestines, inhibits acid secretion

63
Q

Source, stimulus & action of Somatostatin

A

Source -> D cells in the stomach & pancreas

Stimulus -> Fat, bile salts and glucose in the intestinal lumen

Action -> Decreases acid and pepsin secretion, decreases gastrin secretion, decreases pancreatic enzyme secretion, decreases insulin and glucagon secretion
inhibits trophic effects of gastrin, stimulates gastric mucous production

64
Q

Kearns-Sayre syndrome

A

Mitochondrial inheritance
Onset < 20-years-old

Presentation -> External ophthalmoplegia, Retinitis pigmentosa Ptosis may be seen

65
Q

Rules of mitochondrial inheritance

A

Inheritance is only via the maternal line as the sperm contributes no cytoplasm to the zygote
All children of affected males will not inherit the disease
All children of affected females will inherit it
Generally encode rare neurological diseases
Poor genotype:phenotype correlation - within a tissue or cell there can be different mitochondrial populations - this is known as heteroplasmy)

66
Q

Examples of mitochondrial inheritance

A

Examples include:
-> Leber’s optic atrophy
-> MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
-> MERRF syndrome: myoclonus epilepsy with ragged-red fibres
-> Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa.
Ptosis may be seen
-> Sensorineural hearing loss

67
Q

cAMP system

A

Neurotransmitter ligands (receptors)

  • > Epinephrine (α2, β1, β2)
  • > Acetylcholine (M2)

Hormonal ligands
-> ACTH, ADH, calcitonin, FSH, glucagon, hCG,LH, MSH, PTH, TSH, GHRH*

Primary effector
-> Adenylyl cyclase

Secondary messenger
-> cAMP (cyclic adenosine monophosphate)

68
Q

Phosphoinositol system

A

Neurotransmitter ligands (receptors)

  • > Epinephrine (α1)
  • > Acetylcholine (M1, M3)

Hormonal ligands
-> angiotensin II, GnRH, GHRH*, Oxytocin, TRH

Primary effector
-> Phospholipase C

Secondary messenger
-> IP3 (inositol 1,4,5 trisphosphate) and DAG (Diacylglycerol)

69
Q

cGMP system

A

Hormonal ligands
-> ANP, Nitric oxide

Primary effector
-> Guanylate cyclase

Secondary messenger
-> cGMP

70
Q

Tyrosine kinase system

A

Hormonal ligands
-> Insulin, growth hormone, IGF, PDGF

Primary effector
-> Receptor tyrosine kinase

Secondary messenger
-> Protein phosphatase

71
Q

X-linked dominant conditions

A

The following conditions are inherited in a X-linked dominant fashion*:

  • > Alport’s syndrome (in around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing)
  • > Rett syndrome
  • > Vitamin D resistant rickets
72
Q

What chromosome is p53 on?

A

Chromosome 17

73
Q

Cause of Li-Fraumeni syndrome

A

p53 mutation

74
Q

What does p53 mutation cause?

A

Li-Fraumeni syndrome

Most commonly mutated gene in breast, colon and lung cancer

75
Q

What is p53?

A

Tumour suppressor gene on chromosome 17

Thought to play a crucial role in the cell cycle, preventing entry into the S phase until DNA has been checked and repaired. It may also be a key regulator of apoptosis

76
Q

Role of RER

A

Translation and folding of new proteins
Manufacture of lysosomal enzymes
Site of N-linked glycosylation

77
Q

Role of SER

A

Steroid and lipid synthesis

78
Q

Role of Golgi apparatus

A

Modifies, sorts and packages molecules destined for cell secretion

79
Q

Role of mitochondria

A

Aerobic respiration

80
Q

Role of nucleus

A

DNA maintanence

RNA transcription

81
Q

Role of lysosome

A

Breakdown of large molecules such as proteins and polysaccharides

82
Q

Role of nucleolus

A

Ribosome production

83
Q

Role of ribosome

A

Translation of RNA to proteins

84
Q

Role of peroxisome

A

Catabolism of very long chain fatty acids and amino acids. Results in formation of hydrogen peroxide

85
Q

Role of proteosome

A

Involved in degradation of proteins tagged with ubiquitin

86
Q

p53 association

A

Many cancers esp. breat, lung, colon

Li-Fraumeni syndrome

87
Q

APC association

A

Colon cancer

88
Q

BRCA 1+2 association

A

Breast and ovarian cancer

89
Q

NF1 association

A

Neurofibromatosis

90
Q

Rb association

A

Retinoblastoma

91
Q

WT1 association

A

Wilms tumour

92
Q

MTS-1 association

A

Melonaoma

93
Q

HLA-A3 association

A

Haemochromatosis

94
Q

HLA-B5 association

A

Bechets disease

95
Q

HLA-B27 association

A

Ank spond
Reiters syndrome
Acute anterior uveitis

96
Q

HLA-DQ2/8 association

A

Coeliac

97
Q

HLA-DR2 association

A

Nacroplepsy

Goodpastures

98
Q

HLA-DR3 association

A

Dermatitis herpetiformis
Sjogrens syndrome
PBC

99
Q

HLA-DR4 association

A

T1DM

RA

100
Q

Events during G0

A

“Resting” phase. Hepatocytes & neurons here.

101
Q

Events during G1

A

Cells increase in size. Determines length of cell cycle.

102
Q

Events during S

A

Synthesis of DNA, RNA & histone. Centrosome duplication

103
Q

Events during G2

A

Cells continue to increase in size

104
Q

Events during M

A

Mitosis

105
Q

What is mitosis

A

Process by which somatic cells divide and replicate. Results in 2 diploid daughter cells.

106
Q

What is meiosis

A

Process by which gametes are formed.

Results in 4 haploid cells

107
Q

Stages of mitosis

A

Prometaphase -> Metaphase -> Anaphase -> Telophase -> Cytokinesis

108
Q

Examples of trinucleoside repeat conditions

A 
Fragile X (CGG)
Huntingtons (CAG)
Myotonic dystrophy (CTG)
Freidrichs ataxia (GAA)
Spinocerebellar ataxis
Spinobulbar muscular atrophy
109
Q

Trinucleotide repeat responsible for Fragile X

A

CGG

110
Q

Trinucleotide repeat responsible for Huntington’s

A

CAG

111
Q

Trinucleotide repeat responsible for myotonic dystrophy

A

CTG

112
Q

Trinucleotide repeat responsible for Freidrich’s ataxia

A

GAA

113
Q

Aim of phase I clinical trial

A

Determines pharmacokinetics, pharmacodynamics and side effects prior to larger studies.

Conducted on healthy volunteers

114
Q

Aim of phase IIA clinical trial

A

Assesses optimal dosage

115
Q

Aim of phase IIB clinical trial

A

Assesses efficacy

116
Q

Aim of phase III clinical trial

A

Assesses effectiveness

117
Q

Aim of phase IV clinical trial

A

Post-marketing monitoring of long-term efficacy and side effects.

118
Q

Outcome of cohort study

A

Relative risk

119
Q

Outcome of case-control study

A

Odds ratio

120
Q

What is cohort study

A

Observational and prospective

121
Q

What is a case-control study

A

Observational and retrospective

122
Q

Characteristics of normal distribution

A

Mean = median = mode

123
Q

Characteristics of positively skewed distribution

A

Mean > median > mode

124
Q

Characteristics of negatively skewed distribution

A

Mean < median < mode

125
Q

What is a funnel plot

A

Used to demonstrate the existence of publication bias in meta-analyses.

Funnel plots are usually drawn with treatment effects on the horizontal axis and study size on the vertical axis.

126
Q

What does a symmetrical funnel plot mean

A

Publication bias unlikely

127
Q

What does an asymmetrical funnel plot mean

A

There is a relationship between treatment effect and sample size

128
Q

Acute phase proteins include

A 
CRP
Procalcitonin
Ferritin
Fibrinogen
Alpha-1-antitrypsin
Ceruloplasmin
Serum amyloid A
Serum amyloid P
Haptoglobin
Complement
129
Q

Proteins which reduce in the acute phase response are

A 
Albumin
Transthyretin
Transferrin
Retinol binding protein
Cortisol binding protein
130
Q

Definition of incidence

A

The number of new cases per population in a given time period

131
Q

Definition of prevalence

A

The total number of cases per population at a particular point in time

132
Q

C1 - Inhibitor deficiency

A

Causes hereditary angioedema

133
Q

C1q, C1rs, C2, C4 deficiency

A

Predisposes to immune complex disease such as SLE, Henoch-Schonlein purpura

134
Q

C3 deficiency

A

Causes recurrent bacterial infection

135
Q

C5 deficiency

A

Predispose to Leiner disease which causes recurrent diarrhoea, wasting and seborrheic dermatitis

136
Q

C5 - 9 deficiency

A

Prone to Neisseria meningitis

137
Q

Which complement deficiency causes hereditary angioedema?

A

C1 - inhibitor deficiency

138
Q

Which complement deficiency predisposes to immune complex disease?

A

C1q, C1rs, C2, C4

139
Q

Which complement deficiency predisposes to recurrent bacterial infection?

A

C3

140
Q

Which complement deficiency predisposes to Leiner disease?

A

C5

141
Q

S+S Leiner disease

A

C5 deficiency. Causes recurrent diarrhoea, wasting and seborrheic dermatitis

142
Q

What complement deficiency predisposes to Neisseria meningitis?

A

C5-9

MRCP Part 1 (13 decks)

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