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MRCP part 1 > Clinical Sciences > Flashcards

Clinical Sciences Flashcards

1
Q

Type I hypersensitivity reaction

Anaphylaxis

A

Antigen reacts with IgE to bind to Mast cells

Anaphylaxis, atopy

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2
Q

Type II hypersensitivity reaction

Cell bound

A

IgG or IgM binds to antigen on cell surface

e.g. • Autoimmune haemolytic anaemia
• ITP
• Goodpasture's syndrome
• Pernicious anaemia
• Acute haemolytic transfusion reactions
• Rheumatic fever
• Pemphigus vulgaris / bullous pemphigoid
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3
Q

Type III Immune Complex

A

Free antigen and antibody
Free antigen and antibody (IgG, IgA) combine • Serum sickness
• Systemic lupus erythematosus
• Post-streptococcal glomerulonephritis
• Extrinsic allergic alveolitis (especially acute phase)

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4
Q

Type IV

Delayed hypersensitivity

A

T-cell mediated • Tuberculosis / tuberculin skin reaction
• Graft versus host disease
• Allergic contact dermatitis
• Scabies
• Extrinsic allergic alveolitis (especially chronic phase)
• Multiple sclerosis
• Guillain-Barre syndrome

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5
Q

Type V hypersensitivity reaction

A

Antibodies that recognise and bind to the cell surface receptors.

This either stimulating them or blocking ligand binding • Graves’ disease
• Myasthenia gravis

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6
Q

Causes of acute tubular necrosis

Ischaemia

A

shock

sepsis

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7
Q

Causes of acute tubular necrosis

Nephrotoxins

A

aminoglycosides
myoglobin secondary to rhabdomyolysis
radiocontrast agents
lead

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8
Q

Features of acute tubular necrosis

A

features of AKI: raised urea, creatinine, potassium

muddy brown casts in the urine

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9
Q

Histology of Acute tubular necrosis

A

tubular epithelium necrosis: loss of nuclei and detachment of tubular cells from the basement membrane
dilatation of the tubules may occur
necrotic cells obstruct the tubule lumen

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10
Q

phases of acute tubular necrosis

A

oliguric phase
polyuric phase
recovery phase

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11
Q

Posterior half of the skull (cap)

A

C2

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12
Q

High turtleneck shirt

A

C3

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13
Q

Low-collar shirt

A

C4

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14
Q

Ventral axial line of upper limb

A

C5

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15
Q

Thumb + index finger

A

C6

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16
Q

Middle finger + palm of hand

A

C7

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17
Q

Ring + little finger

A

C8

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18
Q

Nipples

A

T4

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19
Q

Inframammary fold

A

T5

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20
Q

Xiphoid process

A

T6

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21
Q

Umbilicus

A

T 10

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22
Q

Inguinal ligament

A

L1

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23
Q

Knee caps

A

L4 ‘down on all 4s’

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24
Q

Big toe, dorsum of foot (except lateral aspect)

A

L5

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25
Q

Lateral foot, small toe

A

S1

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26
Q

Genitalia

A

S2, 3

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27
Q

Metabolic acidosis

A 
vomiting / aspiration (e.g. peptic ulcer leading to pyloric stenos, nasogastric suction)
diuretics
liquorice, carbenoxolone
hypokalaemia
primary hyperaldosteronism
Cushing's syndrome
Bartter's syndrome
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28
Q

Mechanism of Metabolic acidosis

A 
activation of renin-angiotensin II-aldosterone (RAA) system is a key factor
aldosterone causes reabsorption of Na+ in exchange for H+ in the distal convoluted tubule
ECF depletion (vomiting, diuretics) → Na+ and Cl- loss → activation of RAA system → raised aldosterone levels
in hypokalaemia, K+ shift from cells → ECF, alkalosis is caused by shift of H+ into cells to maintain neutrality
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29
Q

Antibiotics for breast feeding mothers

A

penicillins, cephalosporins, trimethoprim

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30
Q

Safe endocrine drugs for breast feeding mothers

A

glucocorticoids (avoid high doses), levothyroxine*

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31
Q

Safe epilepsy drugs for breast feeding mothers

A

sodium valproate, carbamazepine

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32
Q

Safe asthma drugs for breast feeding mothers

A

salbutamol, theophyllines

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33
Q

Safe psychiatric drugs for breast feeding mothers

A

tricyclic antidepressants, antipsychotics**

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34
Q

Safe antihypertensive drugs for breast feeding mothers

A

beta-blockers, hydralazine

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35
Q

Safe anticoagulants in breast feeding mothers

A

warfarin, heparin

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36
Q

Antibiotics to avoid in breast feeding mothers

A

ciprofloxacin, tetracycline, chloramphenicol, sulphonamides

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37
Q

Psychiatric medications to avoid in breast feeding mothers

A

avoid in breast feeding mothers

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38
Q

Other drugs to avoid in breast feeding mothers

A 
aspirin
carbimazole
methotrexate
sulfonylureas
cytotoxic drugs
amiodarone
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39
Q

Amino glycosides

A

Antibiotics ending in mycin e.g. Gentamicin, streptomycin, neomycin

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40
Q

Cell Cycle

G0

A

‘resting’ phase

quiescent cells such as hepatocytes and more permanently resting cells such as neurons

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41
Q

Cell Cycle

G1

A

Gap 1, cells increase in size
determines length of cell cycle
under influence of p53
Cyclin D / CDK4, Cyclin D / CDK6 and Cyclin E / CDK2: regulates transition from G1 to S phase

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42
Q

Cell Cycle

G2

A

Gap 2, cells continue to increase in size

Cyclin B / CDK1: regulates transition from G2 to M phase

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43
Q

Cell Cycle

S

A

Synthesis of DNA, RNA and histone
centrosome duplication
Cyclin A / CDK2: active in S phase

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44
Q

Cell cycle

M

A

Mitosis - cell division

the shortest phase of the cell cycle

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45
Q

Clinical features of Down’s syndrome

A

face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
flat occiput
single palmar crease, pronounced ‘sandal gap’ between big and first toe
hypotonia
congenital heart defects (40-50%, see below)
duodenal atresia
Hirschsprung’s disease

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46
Q

Cardiac features of Down’s syndrome

A 
multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%
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47
Q

Late effects of Down’s syndrome

A 
subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer's disease
atlantoaxial instability
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48
Q

Conditions associated with thiamine deficiency

A

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

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49
Q

Reactions that thiamine pyrophosphate is used in

A

pyruvate dehydrogenase complex
pyruvate decarboxylase in ethanol fermentation
alpha-ketoglutarate dehydrogenase complex
branched-chain amino acid dehydrogenase complex
2-hydroxyphytanoyl-CoA lyase
transketolase

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50
Q

Patau syndrome

Trisomy 13

A

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

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51
Q

Edward’s syndrome

Trisomy 18

A

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

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52
Q

Fragile X

A 
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
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53
Q

Noonan’s syndrome

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

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54
Q

Pierre-Robin syndrome

A

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

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55
Q

Prader-Willi syndrome

A

Hypotonia
Hypogonadism
Obesity

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56
Q

William’s syndrome

A 
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
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57
Q

Cri du chat

chromosome 5p deletion syndrome

A

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism

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58
Q

Sensitivity

A

TP/ TP +FN Proportion of patients with the condition who have a positive test result

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59
Q

Specificity

A

TN/TN +TP Proportion of patients without the condition who have a negative test result

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60
Q

Positive predictive value

A

TP / (TP + FP) The chance that the patient has the condition if the diagnostic test is positive

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61
Q

Negative predictive value

A

TN / (TN + FN) The chance that the patient does not have the condition if the diagnostic test is negative

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62
Q

Arachidonic acid products

PGI 2

A

decreased platelet aggregation
vasodilation
decreased uterine tone

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63
Q

Arachidonic acid products

TXA2

A

vasoconstriction

increased platelet aggregation

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64
Q

Leukotrienes

A

LTB4: B4 (before) leukocytes comes LTB4

the rest A, C, D & E constrict the lungs

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65
Q

Endoperoxides

A

THROMBOxane think THROMBOSIS: platelets aggregated and vasoconstriction. Prostacyclin is the opposite

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66
Q

Phospholipid —–>

Phospholipase A2

A

Arachidonic acid

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67
Q

Arachidonic acid —->

Lipoxegenase

A

HPETEs

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68
Q

HPETEs

A

LTB4 (increase chemotaxis)

Leukotrienes (LA4, LC4, LD4, LE4 ) increase bronchoconstriction

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69
Q

Arachidonic acid —–>

COX-1, COX-2

A

Endoperoxides - prostacyclin, prostaglandin, thromboxane

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70
Q

Prostacyclin

PGl 2

A

Vasodilation
Decreased platelet aggregation
Decreased uterine tone

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71
Q

Prostaglandin

PGE 2

A

Increased: pain, uterine tone, temp, gastric mucus
Decreased: gastric acid
Varying effects for smooth muscles and airways

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72
Q

Thromboxane

TXA2

A

Vasoconstriction

Increased platelet aggregation

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73
Q

Rough endoplasmic reticulum

A

translation and folding of new proteins
manufacture of lysosomal enzymes
site of N-linked glycosylation
examples of cells with extensive RER include pancreatic cells, goblet cells, plasma cells

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74
Q

Smooth endoplasmic reticulum

A

steroid, lipid synthesis

examples of cells with extensive SER include those of the adrenal cortex, hepatocytes, testes, ovaries

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75
Q

Golgi apparatus

A

Modifies, sorts, and packages these molecules that are destined for cell secretion
The addition of mannose-6-phosphate to proteins designates transport to lysosome

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76
Q

Mitochondrion

A

Aerobic respiration. Contains mitochondrial genome as circular DNA

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77
Q

Nucleus

A

DNA maintenance
RNA transcription
RNA splicing
the process that removes the intervening, non-coding sequences of genes (introns) from pre-mRNA and joins the protein-coding sequences (exons)

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78
Q

Lysosome

A

Breakdown of large molecules such as proteins and polysaccharides

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79
Q

Nucelous

A

Ribosome production

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80
Q

Ribosome

A

Translation of RNA into proteins

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81
Q

Peroxisome

A

Catabolism of very long chain fatty acids and amino acids

Results in the formation of hydrogen peroxide

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82
Q

Proteasome

A

Along with the lysosome pathway involved in degradation of protein molecules that have been tagged with ubiquitin

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83
Q

Hawthorne effect

A

the alteration of behaviour by the subjects of a study due to their awareness of being observed.

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84
Q

Linear regression

A

linear regression may be used to predict how much one variable changes when a second variable is changed. A regression equation may be formed, y = a + bx, where
y = the variable being calculated
a = the intercept value, when x = 0
b = the slope of the line or regression coefficient. Simply put, how much y changes for a given change in x
x = the second variable

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85
Q

Correlation coefficient

A

This indicates how closely the points lie to a line drawn through the plotted data. In parametric data this is called Pearson’s correlation coefficient and can take any value between -1 to +1.

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86
Q

Ligand-gated ion channel receptor

A

generally mediate fast responses

e.g. nicotinic acetylcholine, GABA-A & GABA-C, glutamate receptors

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87
Q

Tyrosine kinase receptor

A

generally mediate fast responses

e.g. nicotinic acetylcholine, GABA-A & GABA-C, glutamate receptors

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88
Q

Guanylate cyclase receptors

A

contain intrinsic enzyme activity

e.g. atrial natriuretic factor, brain natriuretic peptide

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89
Q

G protein coupled receptors

A

generally mediate slow transmission and affect metabolic processes
activated by a wide variety of extracellular signals e.g. Peptide hormones, biogenic amines (e.g. adrenaline), lipophilic hormones, light
7-helix membrane-spanning domains
consist of 3 main subunits: alpha, beta and gamma
the alpha subunit is linked to GDP.Ligand binding causes conformational changes to receptor, GDP is phosphorylated to GTP,and the alpha subunit is activated
G proteins are named according to the alpha subunit (Gs, Gi, Gq)

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90
Q

Mechanism of Gs receptor

A

Stimulates adenylate cyclase → increases cAMP → activates protein kinase A

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91
Q

Examples of Gs protein coupled receptor

A
  • Beta-1 receptors (epinephrine, norepinephrine, dobutamine)
  • Beta-2 receptors (epinephrine, salbuterol)
  • H2 receptors (histamine)
  • D1 receptors (dopamine)
  • V2 receptors (vasopressin)
  • Receptors for ACTH, LH, FSH, glucagon, PTH, calcitonin, prostaglandins
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92
Q

Mechanism of Gi protein coupled receptor

A

Inhibits adenylate cyclase → decreases cAMP → inhibits protein kinase A

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93
Q

Examples of Gi protein coupled receptor

A
  • M2 receptors (acetylcholine)
  • Alpha-2 receptors (epinephrine, norephinephrine)
  • D2 receptors (dopamine)
  • GABA-B receptor
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94
Q

Mechanism of Gq protein coupled receptor

A

Activates phospholipase C → splits PIP2 to IP3 & DAG → activates protein kinase C

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95
Q

Examples of Gq protein coupled receptors

A
  • Alpha-1 receptors (epinephrine, norepinephrine)
  • H1 receptors (histamine)
  • V1 receptors (vasopressin)
  • M1, M3 receptors (acetylcholine)
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96
Q

Trendelenburg sign positive

A

injury to superior gluteal nerve

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97
Q

Characteristic features of congenital rubella

A

Sensorineural deafness
Congenital cataracts
Congenital heart disease (e.g. patent ductus arteriosus)
Glaucoma

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98
Q

Other features of congenital rubella

A 
Growth retardation
Hepatosplenomegaly
Purpuric skin lesions
'Salt and pepper' chorioretinitis
Microphthalmia
Cerebral palsy
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99
Q

Characteristic features of congenital toxoplasmosis

A

Cerebral calcification
Chorioretinitis
Hydrocephalus

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100
Q

Other features of congenital toxoplasmosis

A

Anaemia
Hepatosplenomegaly
Cerebral palsy

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101
Q

Characteristic features of congenital cytomegalovirus

A

Growth retardation

Purpuric skin lesions

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102
Q

Other features of congenital cytomegalovirus

A 
Sensorineural deafness
Encephalitis/seizures
Pneumonitis
Hepatosplenomegaly
Anaemia
Jaundice
Cerebral palsy
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103
Q

ELISA

Enzyme-linked immunosorbent assay (ELISA)

A

a type of biochemical assay used to detect antigens and antibodies
a colour changing enzyme is attached to the antibody if looking for an antigen and to an antigen if looking for an antibody
the sample therefore changes colour if the antigen or antibody is detected
an example includes the initial HIV test

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104
Q

Southern blotting

A

Detects DNA

105
Q

Northern blotting

A

Detects RNA

106
Q

Western blotting

A

Detects proteins
Uses gel electrophoresis to separate native proteins by 3-D structure
Examples include the confirmatory HIV test

107
Q

Type 1 error

A

the null hypothesis is rejected when it is true - i.e. Showing a difference between two groups when it doesn’t exist, a false positive. This is determined against a preset significance level (termed alpha). As the significance level is determined in advance the chance of making a type I error is not affected by sample size. It is however increased if the number of end-points are increased. For example if a study has 20 end-points it is likely one of these will be reached, just by chance

108
Q

Type 2 error

A

the null hypothesis is accepted when it is false - i.e. Failing to spot a difference when one really exists, a false negative. The probability of making a type II error is termed beta. It is determined by both sample size and alph

109
Q

number needed to treat

A

1/ absolute risk reduction

110
Q

McCune-Albright syndrome

A

precocious puberty
cafe-au-lait spots
polyostotic fibrous dysplasia
short stature

111
Q

Mann-Whitney U test

A

compares ordinal, interval, or ratio scales of unpaired data

non parametric

112
Q

Chi squared test

A

used to compare proportions or percentages e.g. compares the percentage of patients who improved following two different interventions
non-parametric

113
Q

Wilson’s signed rank-test

A

compares two sets of observations on a single sample, e.g. a ‘before’ and ‘after’ test on the same population following an intervention
non-parametric

114
Q

Spearman, Kendall rank

A

correlation- non parametric

115
Q

Long thoracic nerve injury

A

winging scapula (serratus anterior)

116
Q

Femoral nerve injury

A

Motor- Knee extension, thigh flexion
Sensory - Anterior and medial aspect of the thigh and lower leg
Mechanism of action- Hip and pelvic fractures
Stab/gunshot wounds

117
Q

Zona glomerulosa

A

(on outside): mineralocorticoids, mainly aldosterone

118
Q

Zona fasciulata

A

(middle): glucocorticoids, mainly cortisol

119
Q

zona reticularis

A

(on inside): androgens, mainly dehydroepiandrosterone (DHEA)

120
Q

Renin

A

an enzyme that is released by the renal juxtaglomerular cells in response to reduced renal perfusion
other factors that stimulate renin secretion include hyponatraemia, sympathetic nerve stimulation
hydrolyses angiotensinogen to form angiotensin I

121
Q

Angiotensin II

A

angiotensin-converting enzyme (ACE) in the lungs converts angiotensin I → angiotensin II
angiotensin II has a wide variety of actions:
causes vasoconstriction of vascular smooth muscle leading to raised blood pressure and vasoconstriction of efferent arteriole of the glomerulus → increased filtration fraction (FF) to preserve GFR. Remember that FF = GFR / renal plasma flow
stimulates thirst (via the hypothalamus)
stimulates aldosterone and ADH release
increases proximal tubule Na+/H+ activity

122
Q

Aldosterone

A

released by the zona glomerulosa in response to raised angiotensin II, potassium, and ACTH levels
causes retention of Na+ in exchange for K+/H+ in distal tubule

123
Q

C1 inhibitor (C1-INH) protein deficiency

A

causes hereditary angioedema
C1-INH is a multifunctional serine protease inhibitor
probable mechanism is uncontrolled release of bradykinin resulting in oedema of tissues

124
Q

C1q, C1rs, C2, C4 deficiency (classical pathway components)

A

predisposes to immune complex disease

e.g. SLE, Henoch-Schonlein Purpura

125
Q

C3 deficiency

A

causes recurrent bacterial infections

126
Q

C5 deficiency

A

predisposes to Leiner disease

recurrent diarrhoea, wasting and seborrhoeic dermatitis

127
Q

C5-9 deficiency

A

encodes the membrane attack complex (MAC)

particularly prone to Neisseria meningitidis infection

128
Q

X-linked dominant condition’s

A

Rett syndrome
Alport syndrome
Vitamin D resistant rickets

129
Q

X-linked recessive conditions

A 
Androgen insensitivity syndrome
Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry's disease
G6PD deficiency
Haemophilia A,B
Hunter's disease
Lesch-Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott-Aldrich syndrome
130
Q

Phase 0 of the cardiac cycle

A

Rapid depolarisation
Rapid sodium influx
These channels automatically deactivate after a few ms

131
Q

Phase 1 of the cardiac cycle

A

Early repolarisation

Efflux of potassium

132
Q

Phase 2 of the cardiac cycle

A

Plateau

Slow influx of calcium

133
Q

Phase 3 of the cardiac cycle

A

Final repolarisation

Efflux of potassium

134
Q

Phase 4 of the cardiac cycle

A

Restoration of ionic concentrations
Resting potential is restored by Na+/K+ ATPase
There is slow entry of Na+ into the cell decreasing the potential difference until the threshold potential is reached, triggering a new action potential

135
Q

standard error of the mean

A

standard deviation/ square root (n)

136
Q

Hyponatraemia

Sodium depletion, renal loss (patient often hypovolaemic)

Urinary sodium >20 mmol

A

diuretics: thiazides, loop diuretics
Addison’s disease
diuretic stage of renal failure

137
Q

Hyponatraemia

Patient often euvolaemic

Urinary sodium >20mmol

A

SIADH (urine osmolality > 500 mmol/kg)

hypothyroidism

138
Q

Hyponatraemia
Urinary sodium < 20 mmol/l

Sodium depletion, extra-renal loss

A

diarrhoea, vomiting, sweating

burns, adenoma of rectum

139
Q

Hyponatraemia
Urinary sodium < 20 mmol/l
Water excess (patient often hypervolaemic and oedematous)

A

secondary hyperaldosteronism: heart failure, liver cirrhosis
nephrotic syndrome
IV dextrose
psychogenic polydipsia

140
Q

Mechanism of metabolic acidosis

A 
activation of renin-angiotensin II-aldosterone (RAA) system is a key factor
aldosterone causes reabsorption of Na+ in exchange for H+ in the distal convoluted tubule
ECF depletion (vomiting, diuretics) → Na+ and Cl- loss → activation of RAA system → raised aldosterone levels
in hypokalaemia, K+ shift from cells → ECF, alkalosis is caused by shift of H+ into cells to maintain neutrality
141
Q

what is carbenoxolone

A

Carbenoxolone (CBX) is a glycyrrhetinic acid derivative with a steroid-like structure, similar to substances found in the root of the licorice plant. Carbenoxolone is used for the treatment of peptic, esophageal and oral ulceration and inflammation.

142
Q

what is bartter’s syndrome

A

Bartter syndrome is a general term for a group of rare genetic disorders in which there are specific defects in kidney function. These defects impair the kidney’s ability to reabsorb salt and cause imbalances in various electrolyte and fluid concentrations in the body.
Causes metabolic acidosis

143
Q

Li-Fraumeni syndrome

A

an inherited familial predisposition to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor suppressor gene known as TP53.

144
Q

Oncogenes

A 
c-MYC
ABL
BCL-2
RET
erb-B2 (HER2/neu)
RAS
n-MYC
145
Q

Tumour suppressor genes

A 
BRCA1
BRCA2
WT1
APC
NF1
Rb
multiple tumor suppressor 1 (MTS-1, p16)
p53
146
Q

What is homocystinuria

A

Homocystinuria is a rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in severe elevations in plasma and urine homocysteine concentrations.

147
Q

features of homocystinuria

A

often patients have fine, fair hair
musculoskeletal
Marfanoid body habitus: arachnodactyly etc
osteoporosis
kyphosis
neurological: may have learning difficulties, seizures
ocular
downwards (inferonasal) dislocation of lens
severe myopia
increased risk of arterial and venous thromboembolism
also malar flush, livedo reticularis

148
Q

Investigations of homocystinuria

A

increased homocysteine levels in serum and urine
cyanide-nitroprusside test: also positive in cystinuria

Treatment is vitamin B6 (pyridoxine) supplements.

149
Q

Acute intermittent porphyria

A

Autosomal dominant
are metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.

150
Q

Pattern of inheritance

Retinoblastoma

A

Autosomal dominant

151
Q

Pattern of inheritance

Osteogenesis Imperfecta

A

Autosomal dominant

152
Q

Pattern of Inheritance

Malignant hyperthermia

A

Autosomal dominant

153
Q

what is correlation coefficient

A

a measure of strength of the linear relationship between two variables

154
Q

A boy presents with arm problems after falling from a tree, during which he caught a branch to save himself. On examination he has a claw hand with a hyperextended wrist - lower trunk of the brachial plexus
Which nerve is damaged

A

Long thoracic nerve (C8, T1)

155
Q

cohort study outcome

A

The usual outcome measure is the relative risk

156
Q

cross sectional study outcome

A

Collects data to measure disease prevalence

157
Q

Limitations of randomised control

A

Practical or ethical problems may limit use

158
Q

outcome of case control

A

The usual outcome measure is the odds ratio

159
Q 
zona glomerulosa (on outside)
RAAS
A

mineralocorticoids, mainly aldosterone

160
Q

zona fasciculata (middle):

A

glucocorticoids, mainly cortisol

161
Q

zona reticularis (on inside)

A

androgens, mainly dehydroepiandrosterone (DHEA)

162
Q

what is Renin

A

an enzyme that is released by the renal juxtaglomerular cells in response to reduced renal perfusion
other factors that stimulate renin secretion include hyponatraemia, sympathetic nerve stimulation
hydrolyses angiotensinogen to form angiotensin I

163
Q

What is aldosterone?

A

angiotensin-converting enzyme (ACE) in the lungs converts angiotensin I → angiotensin II

164
Q

Role of angiotensin II

A 
causes vasoconstriction of vascular smooth muscle leading to raised blood pressure and vasoconstriction of efferent arteriole of the glomerulus → increased filtration fraction (FF) to preserve GFR. Remember that FF = GFR / renal plasma flow
stimulates thirst (via the hypothalamus)
stimulates aldosterone and ADH release
increases proximal tubule Na+/H+ activity
165
Q

what is aldosterone

A

released by the zona glomerulosa in response to raised angiotensin II, potassium, and ACTH levels
causes retention of Na+ in exchange for K+/H+ in distal tubule

166
Q

superior gluteal nerve injury

A

Hip abduction
Causes: Misplaced intramuscular injection, Hip surgery, Pelvic fracture, Posterior hip dislocation

Injury results in a positive Trendelenburg sign

167
Q

Femoral nerve injury

A

Motor signs: Knee extension, thigh flexion
Sensory signs: Anterior and medial aspect of the thigh and lower leg
Causes: Hip and pelvic fractures
Stab/gunshot wounds

168
Q

Obturator nerve injury

A

Motor: Thigh adduction
Sensory: Medial thigh
Cause: Anterior hip dislocation

169
Q

Lateral cutaneous nerve of the thigh

A

Motor: None
Sensory: Lateral and posterior surfaces of the thigh
Cause: Compression of the nerve near the ASIS → meralgia paraesthetica, a condition characterised by pain, tingling and numbness in the distribution of the lateral cutaneous nerve

170
Q

Tibial nerve injury

A

Motor:Foot plantar flexion and inversion
Sensory: Sole of foot
Causes: Not commonly injured as deep and well protected.
Popliteral lacerations, posterior knee dislocation

171
Q

Common peroneal nerve injury

A

Motor: Foot dorsiflexion and eversion, Extensor hallucis longus
Sensory: Dorsum of the foot and the lower lateral part of the leg
Cause: Injury often occurs at the neck of the fibula, Tightly applied lower limb plaster cast, Injury causes foot drop

172
Q

Inferior gluteal nerve injury

A

Motor: Hip extension and lateral rotation
Sensory: None

Cause: Generally injured in association with the sciatic nerve Injury results in difficulty rising from seated position. Can’t jump, can’t climb stairs

173
Q

odds ratio

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.

174
Q

Probabilty

A

In contrast, probability is the fraction of times you’d expect to see an event in many trials.

175
Q

what receptor does prolactin act on?

A

non- receptor tyrosine kinase

176
Q

PGI2

A

decreased platelet aggregation
vasodilation
decreased uterine tone

177
Q

PGE2

A 
decreased gastric acid secretion
increased pain
increased uterine tone
increased gastric mucus secretion
increased temperature
178
Q

Cranial nerve lesions

CN IX

A

hypersensitive carotid sinus reflex

179
Q

Cranial nerve lesions CN X

A

uvula deviated away from the side of lesion

180
Q

Cranial nerve lesions CN VII

A

loss of corneal reflex

flaccid paralysis of upper + lower face

181
Q

what is McCune-Albright syndrome

A

McCune-Albright syndrome is not inherited, it is due to a random, somatic mutation in the GNAS gene.

Features
precocious puberty
cafe-au-lait spots
polyostotic fibrous dysplasia
short stature
182
Q

stereotypical history of McCune Albright syndrome

A

a 6-year-old girl is investigated for precocious puberty. On examination she is noted to have cafe-au-lait spots predominately on one side of her body and a skull deformity

183
Q

stereotypical history of Lesch-Nyhan syndrome

A

a boy with a history of learning difficulties and self-mutilation presents with recurrent episodes of gout

184
Q

HLA-A3

A

haemochromatosis

185
Q

HLA B51

A

Behcet’s

186
Q

HLA B27

A

ankylosing spondylitis
reactive arthritis
acute anterior uveitis

187
Q

HLA-DQ2/DQ8

A

coeliac disease

188
Q

HLA DR2

A

narcolepsy

Goodpasture’s

189
Q

HLA DR3

A

dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis

190
Q

HLA DR4

A

Type 1 diabetes mellitus* (also DR3)

rheumatoid arthritis - in particular the DRB1 gene (DRB104:01 and DRB104:04 hence the association with DR4)

191
Q

positive predictive value

A

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

192
Q

‘How much the odds of the disease increase when a test is positive’ is what?

A

likelihood ratio for a positive test result

193
Q

formula for specificity

A

TN / (TN + FP)

194
Q

formula for sensitivity

A

TP / (TP + FN )

195
Q

formula for likelihood ratio for a negative test result

A

(1 - sensitivity) / specificity

196
Q

X-linked dominant conditions

A

vitamin D resistant rickets
Alport’s syndrome
Rett syndrome

197
Q

Trinucleotide repeat disorders

CGG

A

Fragile X

198
Q

Trinucleotide repeat disorders

CAG

A

Huntingtons

199
Q

Trinucleotide repeat disorders

CTG

A

myotonic dystrophy

200
Q

Trinucleotide repeat disorder

GAA

A

Freidreich’s ataxia

201
Q

Goal of a Phase I clinical trial

A

Determines pharmacokinetics and pharmacodynamics and side-effects prior to larger studies

202
Q

Goal of a Phase II clinical trial

A

Assess efficacy + dosage Involves small number of patients affected by particular disease

May be subdivided into
IIa - assesses optimal dosing
IIb - assesses efficacy

203
Q

Goal of a Phase III clinical trial

A

Assess effectiveness Typically involves 100-1000’s of people, often as part of a randomised controlled trial, comparing new treatment with established treatments

204
Q

Goal of a Phase IV clinical trial

A

Postmarketing surveillance Monitors for long-term effectiveness and side-effects

205
Q

Where is leptin produced

A

It is produced by adipose tissue and acts on satiety centres in the hypothalamus and decreases appetite. More adipose tissue (e.g. in obesity) results in high leptin levels. Leptin stimulates the release of melanocyte-stimulating hormone (MSH) and corticotrophin-releasing hormone (CRH). Low levels of leptin stimulates the release of neuropeptide Y (NPY)

206
Q

What is Ghrelin

A

Where as leptin induces satiety, ghrelin stimulates hunger. It is produced mainly by the P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas. Ghrelin levels increase before meals and decrease after meals

207
Q

Inheritance pattern for antithrombin III deficiency

A

Autosomal dominant

208
Q

Types of data: interval

A

A measurement where the difference between two values is meaningful, such that equal differences between values correspond to real differences between the quantities that the scale measures (for example temperature)

209
Q

Types of data: Ordinal

A

Observed values can be put into set categories which themselves can be ordered (for example NYHA classification of heart failure symptoms)

210
Q

Types of data: Nominal

A

Observed values can be put into set categories which have no particular order or hierarchy. You can count but not order or measure nominal data (for example birthplace)

211
Q

Types of Data: Discrete

A

Observed values are confined to a certain values, usually a finite number of whole numbers (for example the number of asthma exacerbations in a year)

212
Q

Types of data: Continuous

A

Data can take any value with certain range (for example weight)

213
Q

Types of Data: Binominal

A

Data may take one of two values (for example gender)

214
Q

Define confidence interval

A

a range of values for a variable of interest constructed so that this range has a specified probability of including the true value of the variable. The specified probability is called the confidence level, and the end points of the confidence interval are called the confidence limits*

215
Q

Absolute risk reduction =

A

1/ number needed to treat

The difference between the event rate in the intervention group and that in the control group

216
Q

Pattern of inheritance: occular albinism

A

X-linked recessive

217
Q

statistical definition of power

A

The probability of detecting a statistically significant difference

218
Q

statistical definition of p value

A

Is 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

219
Q

Inheritance of hereditary spherocytosis

A

Autosomal dominant

220
Q

statistical definitions: significance

A

The probability of getting the results if the null hypothesis is true

221
Q

statistical definition: power

A

The probability of (correctly) rejecting the null hypothesis when it is false

222
Q

inheritance pattern: Romano-ward syndrome

A

Autosomal dominant

223
Q

Drugs to avoid in breast feeding

A 
antibiotics: ciprofloxacin, tetracycline, chloramphenicol, sulphonamides
psychiatric drugs: lithium, benzodiazepines
aspirin
carbimazole
methotrexate
sulfonylureas
cytotoxic drugs
amiodarone
224
Q

Drugs that are considered safe in breast feeding

A

antibiotics: penicillins, cephalosporins, trimethoprim
endocrine: glucocorticoids (avoid high doses), levothyroxine*
epilepsy: sodium valproate, carbamazepine
asthma: salbutamol, theophyllines
psychiatric drugs: tricyclic antidepressants, antipsychotics**
hypertension: beta-blockers, hydralazine
anticoagulants: warfarin, heparin
digoxin

225
Q

internal auditory meatus

A

CN VII

CN VIII

226
Q

Inheritance of myotonic dystrophy

A

Autosomal Dominant

227
Q

Congenital cytomegalovirus

A

growth retardation, purpuric skin lesions, sensorineural deafness and seizures

228
Q

function of a proteosome

A

Degradation of protein molecules that have been tagged with ubiquitin

229
Q

Mutations leading to Neuroblastoma

A

n-MYC

230
Q

Wilcoxon matched-pairs

A

Non-parametric test that compares two sets of observations on a single sample

231
Q

Chi-Squared Test

A

Non-parametric test used to compare proportions or percentages

232
Q

Stereotypical history of Turner’s syndrome

A

a baby is reviewed shortly after birth as a fetal ultrasound showed a cystic hygroma. On examination the baby has swollen hands and feet and echocardiography shows a bicuspid aortic valve

233
Q

Mann-Whitney test

A

Non-parametric test of unpaired data

234
Q

Pattern of inheritance: homocystinuria

A

Autosomal recessive

235
Q

likelihood ratio for a positive test result

A

Sensitivity / (1 - specificity)

236
Q

Underlying aetiology of alkaptonuria

A

Deficiency of homogentisic dioxygenase

237
Q

Type II error

A

The null hypothesis is accepted when it is false

238
Q

mode of inheritance of lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick?

A

Autosomal recessive

239
Q

mode of inheritance of Peutz-Jeghers syndrome

A

Autosomal recessive

240
Q

Stereotypical history of WIlliam’s syndrome

A

a boy with learning difficulties is noted to be extremely friendly and extroverted. He has short for his age and has supravalvular aortic stenosis

241
Q

Gaussian distribution

A

Normal (Gaussian) distributions: mean = median = mode

242
Q

Negatively skewed data

A

mean < median < mode

243
Q

Positively skewed data

A

mean > median > mode

244
Q

Wilcoxon signed-rank test

A

compares two sets of observations on a single sample, e.g. a ‘before’ and ‘after’ test on the same population following an intervention

245
Q

Paired T-test

A

Should only be used on data with a normal distribution

246
Q

McNemar’s test

A

Classically used on paired nominal data. Classically this test can be used to compare the sensitivity and specificity of 2 diagnostic tests on a matched sample.

247
Q

Secondary messanger stimulated by nitric oxide

A

cGMP

248
Q

Prader-Willisyndrome

A

Paternal = Prader-will
Maternal = angelMan
caused by: microdeletion of paternal 15q11-13 (70% of cases)
maternal uniparental disomy of chromosome 15

249
Q

Chronic emphysema

A

leads to increased pulmonary compliance

250
Q

peroxisomes

A

intracellular organelle responsible for breaking down long chain fatty acids

251
Q

Prometaphase

A

Nuclear membrane breaks down allowing the microtubules to attach to the chromosomes

252
Q

Metaphase

A

Chromosomes aligned at middle of cell

253
Q

Prophase

A

Chromatin in the nucleus condenses

254
Q

Anaphase

A

The paired chromosomes separate at the kinetochores and move to opposite sides of the cell

255
Q

Telophase

A

Chromatids arrive at opposite poles of cell

256
Q

Cytokinaesis

A

Actin-myosin complex in the centre of the cell contacts resulting in it being ‘pinched’ into two daughter cells

257
Q

Cytokinaesis

A

Actin-myosin complex in the centre of the cell contacts resulting in it being ‘pinched’ into two daughter cells

258
Q

Coeliac HLA

A

HLA DQ2

259
Q

Fabry disease

A

disorder of lysosomal storage and deficiency of alpha-galactosidase A. Common features of Fabry disease include acute pain episodes in the peripheries, angiokeratomas, hypohidrosis and corneal opacity. Organ involvement is also common and results in cardiovascular disease, myocardial infarction, strokes and progressive kidney disease. Fabry disease is inherited in an X-linked recessive fashion.

MRCP part 1 (15 decks)

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