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Medicine > Clinical Sciences MRCP > Flashcards

Clinical Sciences MRCP Flashcards

MRCP prep

1
Q

Hypokalaemia with alkalosis: causes

A

vomiting
diuretics
Cushing’s syndrome
Conn’s syndrome (primary hyperaldosteronism)

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2
Q

Hypokalaemia with acidosis

A

diarrhoea
renal tubular acidosis
acetazolamide
partially treated diabetic ketoacidosis

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3
Q

Parametric tests

A

(something which can be measured, usually normally distributed)
Student’s t-test - paired or unpaired*
Pearson’s product-moment coefficient - correlation

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4
Q

Non-parametric tests

A

(can’t be measured)
Mann-Whitney U test - unpaired data
Wilcoxon signed-rank test - compares two sets of observations on a single sample
chi-squared test - used to compare proportions or percentages
Spearman, Kendall rank - correlation

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5
Q

Turner’s syndrome features

A

Features
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)

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6
Q

HLA-A3 associations:

A

haemochromatosis

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7
Q

HLA-B5 associations:

A

Behcet’s disease

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8
Q

HLA-B27 associations:

A

ankylosing spondylitis
Reiter’s syndrome
acute anterior uveitis

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9
Q

HLA-DQ2/DQ8 associations:

A

coeliac disease

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10
Q

HLA-DR2 associations:

A

narcolepsy

Goodpasture’s

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11
Q

HLA-DR3 associations:

A

dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis

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12
Q

HLA-DR4 associations:

A

type 1 diabetes mellitus*
rheumatoid arthritis

*type 1 diabetes mellitus is associated with HLA-DR3 but is more strongly associated with HLA-DR4.

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13
Q

DiGeorge syndrome features:

A

primary immunodeficiency disorder caused by T-cell deficiency and dysfunction

It has a variable presentation however its features can be remembered with the mnemonic CATCH22:
C - Cardiac abnormalities
A - Abnormal facies
T - Thymic aplasia
C - Cleft palate
H - Hypocalcaemia/ hypoparathyroidism
22 - Caused by chromosome 22 deletion
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14
Q

Hypocalcaemia causes:

A

vitamin D deficiency (osteomalacia)
chronic kidney disease
hypoparathyroidism (e.g. post thyroid/parathyroid surgery)
pseudohypoparathyroidism (target cells insensitive to PTH)
rhabdomyolysis (initial stages)
magnesium deficiency (due to end organ PTH resistance)
massive blood transfusion

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15
Q

Hypocalcaemia management:

A

acute management of severe hypocalcaemia is with intravenous replacement. The preferred method is with intravenous calcium gluconate, 10ml of 10% solution over 10 minutes
intravenous calcium chloride is more likely to cause local irritation
ECG monitoring is recommended
further management depends on the underlying cause

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16
Q

Wtf is a funnel plot?

A

A funnel plot is primarily 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.

Interpretation:
a symmetrical, inverted funnel shape indicates that publication bias is unlikely
conversely, an asymmetrical funnel indicates a relationship between treatment effect and study size. This indicates either publication bias or a systematic difference between smaller and larger studies (‘small study effects’)

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17
Q

What are odds and odds ratios?

A

Odds are a ratio of the number of people who incur a particular outcome to the number of people who do not incur the outcome. The odds ratio may be defined as the ratio of the odds of a particular outcome with experimental treatment and that of control.

18
Q

Sensitivity

A

TP / (TP + FN )

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

19
Q

Specificity

A

TN / (TN + FP)

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

20
Q

Positive predictive value

A

TP / (TP + FP)

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

21
Q

Negative predictive value

A

TN / (TN + FN)

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

22
Q

Likelihood ratio for a positive test result

A

sensitivity / (1 - specificity)

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

23
Q

Likelihood ratio for a negative test result

A

(1 - sensitivity) / specificity

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

24
Q

Layers of the epidermis: from superficial to deep

A

Stratum corneum Flat, dead, scale-like cells filled with keratin
Continually shed

Stratum lucidum Clear layer - present in thick skin only

Stratum granulosum Cells form links with neighbours

Stratum spinosum Squamous cells begin keratin synthesis
Thickest layer of epidermis

Stratum germinativum The basement membrane - single layer of columnar epithelial cells
Gives rise to keratinocytes
Contains melanocytes

25
Q

Fabry Disease: cause

A

X-linked recessive disorder characterised by a deficiency of alpha-galactosidase A

This leads to accumulation of glycosphingolipids, namely globotriaosylceramide, within the lysosomes of cells. It is the second most prevalent lysosomal storage disorder after Gaucher disease.

26
Q

Fabry Disease: features and management

A

Severe neuropathic/limb pain brought on by stress, heat, or cold
Angiokeratomas
Renal features: proteinuria, polyuria, polydipsia
Cardiac: left ventricular hypertrophy, coronary artery disease, valvular abnormalities and heart failure
Cerebrovascular: TIAs/strokes

Enzyme replacement therapy with agalsidase alfa

27
Q

Von Gierke’s disease (type I)

A

Glucose-6-phosphatase

Hepatic glycogen accumulation. Key features include hypoglycaemia, lactic acidosis, hepatomegaly

28
Q

Pompe’s disease (type II)

A

Lysosomal alpha-1,4-glucosidase

Cardiac, hepatic and muscle glycogen accumulation. Key features include cardiomegaly

29
Q

Cori disease (type III)

A

Alpha-1,6-glucosidase (debranching enzyme)

Hepatic, cardiac glycogen accumulation. Key features include muscle hypotonia

30
Q

McArdle’s disease (type V)

A

Glycogen phosphorylase

Skeletal muscle glycogen accumulation. Key features include myalgia, myoglobulinaemia with exercise

31
Q

Gaucher’s disease

A

Beta-glucocerebrosidase

Most common lipid storage disorder resulting in accumulation of glucocerebrosidase in the brain, liver and spleen. Key features include hepatosplenomegaly, aseptic necrosis of the femur

32
Q

Tay-Sachs disease

A

Hexosaminidase A

Accumulation of GM2 ganglioside within lysosomes. Key features include developmental delay, cherry red spot on the macula, liver and spleen normal size (cf. Niemann-Pick)

33
Q

Niemann-Pick disease

A

Sphingomyelinase

Key features include hepatosplenomegaly, cherry red spot on the macula

34
Q

Krabbe’s disease

A

Galactocerebrosidase

Key features include peripheral neuropathy, optic atrophy, globoid cells

35
Q

Metachromatic leukodystrophy

A

Arylsulfatase A

Demyelination of the central and peripheral nervous system

36
Q

Hurler syndrome (type I)

A

Alpha-1-iduronidase

Accumulation of glycosaminoglycans (heparan and dermatan sulfate). Key features include gargoylism, hepatosplenomegaly, corneal clouding

37
Q

Hunter syndrome (type II)

A

Iduronate sulfatase

Accumulation of glycosaminoglycans (heparan and dermatan sulfate). Key features include coarse facial features, behavioural problems/learning difficulties short stature, no corneal clouding

38
Q

Th1 cells: function and secretions

A

involved in the cell mediated response and delayed (type IV) hypersensitivity

secrete IFN-gamma, IL-2, IL-3

39
Q

Th2 cells: function and secretions

A

involved in mediating humoral (antibody) immunity
e.g. stimulating production of IgE in asthma

secrete IL-4, IL-5, IL-6, IL-10, IL-13

40
Q

Atrial natriuretic peptide: basics and function

A

Basics
secreted mainly from myocytes of right atrium and ventricle in response to increased blood volume
secreted by both the right and left atria (right&raquo_space; left)
28 amino acid peptide hormone, which acts via cGMP
degraded by endopeptidases

Actions
natriuretic, i.e. promotes excretion of sodium
lowers BP
antagonises actions of angiotensin II, aldosterone

41
Q

Hyposplenism vaccines

A

pneumococcal, Haemophilus type B and meningococcus type C

42
Q

Prader-Willi syndrome: cause and features

A 
PW = paternal deletion
Angelman = maternal

Prader-Willi syndrome is associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15. This may be due to:
microdeletion of paternal 15q11-13 (70% of cases)
maternal uniparental disomy of chromosome 15

Features
hypotonia during infancy
dysmorphic features
short stature
hypogonadism and infertility
learning difficulties
childhood obesity
behavioural problems in adolescence

Medicine (3 decks)

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