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MRCP Revision > Clinical Sciences > Flashcards

Clinical Sciences Flashcards

1
Q

Bohr effect

A

increasing acidity or pCO2 means O2 binds less well to Hb

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2
Q

Chloride shift

A

CO2 diffuses into RBCs, +H20 → (via carbonic anhydrase) HCO3- + H+. H+ combines with Hb, HCO3- leaves RBC, Cl- replaces it

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3
Q

Haldane effect

A

increase pO2 means CO2 binds less well to Hb (opposite of Bohr effect)

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4
Q

Lung compliance changes

A

increases with age, emphysema.

Reduces with pulm oedema, fibrosis, pneumonectomy, kyphosis

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5
Q

What are involved in respiration control

A

central regulatory centres
Central and peripheral chemoreceptors
Pulmonary receptors

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6
Q

Where are the central regulatory centres

A

medullary respiratory centre, apneustic centre (lower pons), pneumotaxic centre (upper pons)

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7
Q

What are the central and peripheral chemoreceptors stimulated by

A

central (low pH in ECF stimulates respiration)
peripheral (carotid + aortic bodies, responding to pCO2, pH, lesser extent low pO2)

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8
Q

What are the pulmoary receptors

A

stretch receptors (Hering-Bruer reflex - lung distension → lowered resp rate)

irritant receptor (leading to bronchoconstriction)

juxtacapillary receptors (stimulated by microvasculature stretching)

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9
Q

What happens to pulmonary arteries with hypoxia

A

as paO2 reduces, pulmonary artery vasoconstriction occurs (diverts to better aerated areas to improve exchange)

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10
Q

Pneumocyte types

A

Type 1 - thin squamous cells, cover 97% of alveolar surface.

Type 2 - cuboidal, secrete surfactants, develops from 24wks gestation, adequate surfactant from 35wks (prematures risk resp distress syndrome), can differentiate into Type 1 pneumocytes during lung damage.

Club cells: (clara cells) non-ciliated, dome-shaped cells in bronchioles. Protect against deleterious effects of inhaled toxins + secretes glycosaminoglycans, lysozymes

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11
Q

Stages of cardiac action potential

A

Rapid depolarisation with rapid Na influx → Early repolarisation with K efflux → Plateau with slow Ca influx → Final repolarisation with K efflux → Restoration of ionic concentration with resting potential restored by Na/K ATPase

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12
Q

Slowest to fastest cardiac conduction velocity

A

Atrial conduction 1m/s, AV node 0.05m/s, Purkinje fibres 2-4m/s (fastest)

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13
Q

Where is renin from

A

renal juxtaglomerular cells

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14
Q

What triggers renin

A

reduced renal perfusion, hypoNa, SNS stimulation.

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15
Q

What does renin do

A

Angiotensinogen → angiotensin I

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16
Q

Adrenal cortex zones and what they produce

A

GFR-ACD

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17
Q

What happens to angiotensin I and where

A

Angiotensin I converted by ACE in lungs to angiotensin II

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18
Q

What does angiotensin II do

A

vasoconstriction of vascular smooth muscle (raises bp) + efferent arteriole of glomerulus (increases filtration fraction, preserves GFR), stimulates thirst (via hypothalamus), stimulates aldosterone + ADH release, increases proximal tubule Na/H activity (increases Na reabsorption)

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19
Q

What causes aldosterone secretion

A

angiotensin II
hyperK
ACTH.

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20
Q

What does aldosterone do

A

Causes Na retention in exchange for K/H in DCT

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21
Q

Stages of cell cycle

A

G0 - resting
G1 - increase in size, determines length of cell cycle, influence of p53, regulated by cyclin D/CDK4, CDK6, Cyclin E/CDK2 regulates transition from G1 to S
S - synthesis of DNA, RNA, histone, centrosome duplication, Cyclin A/CDK2 active
G2 - cells continue to increase in size, Cyclin B/CDK1 regulates transition from G2 to M
M - mitosis, shortest phase

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22
Q

Mitosis phases

A

Prometaphase (nuclear membrane breaks down)
metaphase (chromosomes align at middle of cell)
anaphase (chromosomes separate and move to opposite ends)
telophase (chromosomes arrive at opposite ends)
cytokinesis (actin-myosin complex in centre of cell contracts → pinching into two daughter cells)

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23
Q

Rough endoplasmic reticulum function

A

translation, folding of new proteins, manufacture of lysosomal enzymes, site of N-linked glycosylation. Extensive in pancreatic cells, goblet cells, plasma cells

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24
Q

Smooth ER function

A

steroid, lipid synthesis. Extensive in adrenal cortex, hepatocytes, testes, ovaries

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25
Q

Golgi apparatus function

A

modifies, sorts, packages molecules destined for secretion

Addition of mannose-6-phosphate designates transport to lysosomes

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26
Q

Mitochondrion function

A

aerobic respiration, contains mitochondrial genome as circular DNA

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27
Q

Nucleus function

A

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

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28
Q

Nucleolus function

A

ribosome production

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29
Q

Lysosome function

A

breaks down large molecules (proteins, polysaccharides)

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30
Q

Ribosome function

A

Translates RNA into proteins

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31
Q

Peroxisome function

A

catabolism of very long chain fatty acids, amino acids, forms hydrogen peroxide

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32
Q

Proteasome function

A

degrades protein molecules tagged with ubiquitin (Uniquitination is a post-translational process that tags proteins for degradation)

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33
Q

Muscle fibre types

A

Type 1 fibres: slow, red (myoglobin presence), used for sustained force, triglycerides, high mitochondrial density

Type 2 fibres: fast, white (absence of myoglobin), sudden movement, ATP, low mitochondrial density

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34
Q

Renal stone types

A

Ca oxalate 85%
Ca phosphate 10%
Uric acid 5-10%
struvite 2-20%
cystine 1%

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35
Q

RFs for ca oxalate stones

A

hypercalciuria, hyperoxaluria, hypocitraturia (citrate forms complexes with Ca, making it more soluble), hyperuricosuria.

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36
Q

Ca oxalate stones - radio-opaque/lucent?

A

opaque

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37
Q

Ca phosphate stones RF:

A

RTA 1 and 3 → high urinary pH increases supersaturation of urine with Ca and phosphate

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38
Q

Ca phosphate stones radioopaque/lucent?

A

opaque

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39
Q

Uric acid stone risk factor

A

Purine metabolism, may precipitate when urinary pH low, may be caused by diseases with extensive tissue breakdown, more common in children with inborn errors of metabolism.

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40
Q

Uric acid stone radioopaque/lucent?

A

radiolucent

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41
Q

Struvite risk factor

A

urease-producing bacteria, proteus mirabilis

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42
Q

Struvite stone radio-opaque/lucent?

A

opaque

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43
Q

Cystine stone risk factor

A

inherited recessive disorder of transmembrane cystine transport, leading to reduced cystine absorption from intestine and renal tubule, multiple stones.

Cystinuria - Aut recessive, recurrent stones

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44
Q

Cystine stones - radioopaque/lucent?

A

radiodense (contains sulfur)

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45
Q

Causes of urinary red cell casts

A

Glomerulonephritis, Renal ischaemia, infarction

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46
Q

Causes of urinary white cell casts

A

pyelonephritis, interstitial nephritis

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47
Q

Muddy brown casts

A

ATN

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48
Q

Urinary Hyaline casts

A

non-specific, post-exercise/dehydration

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49
Q

Urinary Epithelial casts

A

ATN

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50
Q

Waxy urinary casts causes

A

Advanced CKD

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51
Q

Urinary fatty casts cause:

A

nephrotic syndrome

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52
Q

Ligand-gated ion channels

A

fast

anaesthetics (lidocaine), nACh, GABA-A,

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53
Q

G-protein coupled receptors (GPCRs): types

A

Gs: stimulates adenylate cyclase
Gi: inhibits adenylate cyclase
Gq: activates phospholipase C

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54
Q

G-s receptors mechanism

A

stimulates adenylate cyclase → cAMP increase → protein kinase A activation.

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55
Q

Gs receptors examples

A

Beta1, beta 2, H2, D1, V2, ACTH, LH, FSH, glucagon, PTH, calcitonin, prostaglandins

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56
Q

Gi receptor mechanisms

A

inhibits adenylate cyclase -> cAMP decrease → inhibits protein kinase A

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57
Q

Gi receptor examples

A

M2, Alpha 2, D2, GABA-B receptor

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58
Q

Gq receptor mechanism

A

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

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59
Q

Gq receptor examples

A

Alpha 1, H1, V1, M1, M3 receptors

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60
Q

Tyrosine kinase receptors example

A

insulin, IGF, EGF. Non-receptor tyrosine kinase: PIGG(L)ET Prolactin, Immunomodulators (IL2, IL6, IFN), GH, G-CSF, Erythropoietin, Thrombopoietin

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61
Q

Guanylate cyclase receptors mechanism

A

contain intrinsic enzyme activity.

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62
Q

Guanylate cyclase receptor examples

A

ANP, BNP

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63
Q

Nuclear receptor examples

A

lipid-soluble drugs, steroids, levothyroxine

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64
Q

CD1 function

A

MHC, presents lipids

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65
Q

CD2 on what

A

thymocytes, T cells, natural killer cells, acts as ligand for CD58, 59, signal transduction, cell adhesion

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66
Q

CD3 function

A

signalling component of TCR

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67
Q

CD4 function

A

on Th cells, MHC Class II co-receptor, Used by HIV to enter T cells

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68
Q

CD5 on what

A

mantle cell lymphomas

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69
Q

CD8 function

A

cytotoxic T cells, MHC Class I co-receptor, on subset of myeloid dendritic cells

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70
Q

CD14 function

A

macrophage cell surface marker

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71
Q

CD15 on what

A

Reed Sternberg cells along with CD30

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72
Q

CD16 function

A

Fc portion of IgG abs

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73
Q

CD21 on what

A

EBV receptor

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74
Q

CD28 function

A

interacts with B7 on APC as costimulation signal

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75
Q

CD45 function

A

protein tyrosine phosphatase, present on leucocytes

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76
Q

CD56 function

A

unique marker for natural killer cells

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77
Q

CD95 function

A

FAS receptor, involved in apoptosis

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78
Q

what’s involved in the cAMP system

A

Primary effector: adenylyl cyclase. Secondary messenger: cAMP

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79
Q

examples of receptors using cAMP system

A

alpha 1, beta 1, 2 (epinephrine), M2 (acetylcholine), ACTH, ADH, calcitonin, FSH, glucagon, hC, LH, MSH, PTH, TSH, GHRH

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80
Q

What’s involved in the phosphoinositol system

A

Primary effector: Phospholipase C. Secondary messenger: IP3, DAG

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81
Q

Examples of phosphoinositol system

A

alpha 1 (epinephrine), M1, M3 (acetylcholine), angiotensin II, GnRH, GHRH, Oxytocin, TRH.

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82
Q

what’s involved in the cGMP system

A

Primary effector: guanylate cyclase. Secondary messenger cGMP

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83
Q

examples of cGMP system

A

ANP, BNP, nitric oxide

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84
Q

Tyrosine kinase system - what’s involved

A

Primary effector: receptor tyrosine kinase. Secondary messenger: protein phosphatase

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85
Q

Examples using tyrosine kinase system

A

insulin, GH, IGF, PDGF

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86
Q

Homocystinuria inheritence pattern

A

Autosomal recessive

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87
Q

Homocystinuria defect

A

cystathionine beta synthase def.

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88
Q

Homocystinuria features

A

Fine, fair hair, marfanoid, osteoporotic, kyphotic, LD, seizures, downwards (inferonasal) lens dislocation, severe myopia, arterial + venous thromboembolisms, malar flush, livedo reticularis.

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89
Q

Ix for homocystinuria

A

plasma and urine homocysteine concentrations high, cyanide-nitroprusside test +ve.

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90
Q

Rx for homocystinuria

A

Vitamin B6 (pyridoxine) supplements

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91
Q

Phenylketonuria genetics

A

Autosomal recessive
Chromosome 12

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92
Q

Phenylketonuria defect enzyme

A

phenylalanine hydroxylase

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93
Q

Features of phenylketonuria

A

fair hair, blue eyes, musky urine, LD, seizures, eczema,

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94
Q

Ix for phenylketonuria

A

Guthrie’s test, hyperphenylalaninaemia, urinary phenylpyruvic acid,

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95
Q

Alkaptonuria inheritance

A

Aut rec

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96
Q

Alkaptonuria enzyme def

A

HGD

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97
Q

Alkaptonuria features

A

(dark) urinary homogentisic acid (dark urine on standing)
renal stones, bones (intervertebral disc calcification), pigmented sclera, corneal deposits

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98
Q

Alkaptonuria Rx

A

vit C, restrict phenylalanine, tyrosine

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99
Q

Beckwith-Wiedemann syndrome features

A

Wilm’s, organomegaly, abdo wall defects, neonatal hypoglycaemia

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100
Q

Von Gierke’s disease defect

A

(type I glycogen storage disesase):

Glucose-6-phosphatase def → hepatic glycogen accumulation.

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101
Q

Von Gierke’s disease features

A

Hypoglycaemia
Lactic acidosis
Hepatomegaly

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102
Q

Pompe’s disease enzyme def

A

Type 2 glycogen storage disease

Lysosomal alpha 1,4 glucosidase def → cardiac, hepatic, muscle glycogen accumulation

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103
Q

Pompe’s disease salient feature

A

cardiac, hepatic, muscle glycogen accumulation

Cardiomegaly

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104
Q

Cori disease enzyme defect

A

Type 3 glycogen storage disease

alpha-1,6-glucosidase def

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105
Q

Cori disease features

A

hepatic, cardiac glycogen accumulation.

Muscle dystonia

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106
Q

McArdle’s disease features

A

type 5 glycogen storage disease

The Ms: myophosphorylase (glycogen phosphorylase) def, Muscle glycogen accumulation → Myalgia and Myoglobinuria with exercise. Aut Recessive.

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107
Q

Gaucher’s disease defect

A

beta glucocerebrosidase def.

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108
Q

Gaucher’s disease features

A

Most common lysosomal storage disease

accumulation of glucocerebrosidase in brain, liver, spleen.

Hepatosplenomegaly

Aseptic necrosis of femur

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109
Q

Tay-Sachs disease features

A

Young presentation (by 6 months) with developmental delay, Spleen + liver normal sized, Cherry-red spots on macula, Hexosaminidase A def → GM2 ganglioside accumulation in lysosomes

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110
Q

Tay Sachs disease enzyme def

A

Hexosaminidase A def

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111
Q

Niemann-Pick disease enzyme def

A

sphingomyelinase

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112
Q

Niemann-Pick diseasse features

A

Hepatosplenomegaly + cherry red spots on macula

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113
Q

Fabry’s disease inheritance

A

X recessive

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114
Q

Fabry’s disease features

A

Fever, Angiokeratomas (bathing trunk distr), alpha galactosidase A def, Burning (peripheral neuropathy), Renal failure, Young, CVS disease/Corneal whorls keratopathy/lens opacification (cornea verticillata).

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115
Q

Fabry’s enzyme defect

A

alpha galactosidase A def

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116
Q

Rx for fabry’s disease

A

agalsidase alfa (enzyme replacement)

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117
Q

Krabbe’s disease enzyme def

A

galactocerebrosidase

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118
Q

Krabbe’s disease sx

A

Peripheral neuropathy, optic atrophy, globoid cells

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119
Q

Metachromatic leukodystrophy enzyme def

A

arylsulfatase A

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120
Q

Metachromatic leukodystrophy features

A

Demyelination of CNS, PNS

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121
Q

Hurler syndrome

A

Type 1 mucopolysaccharidosis

alpha-1-iduronidase def → glycosaminoglycan accumulation (heparan, dermatan sulfate). Gargoylism, hepatosplenomegaly, corneal clouding

Aut rec

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122
Q

Hunter syndrome

A

Type 2 mucopolysaccharidosis

iduronate sulfatase def → glycosaminoglycan accumulation. Coarse facial feature features, behavioural problems/LD, short stature, no corneal clouding

X recessive

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123
Q

Hurler syndrome inheritance pattern

A

Aut recessive

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124
Q

Hunter syndrome inheritance

A

X recessive

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125
Q

What do muscle biopsies show in mitochondrial disease?

A

red, ragged fibres

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126
Q

What feature do mitochondrial diseases show in relation to genotype:phenotype

A

Heteroplasmy
Poor genotype:phenotype correlation

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127
Q

MELAS in full

A

mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

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128
Q

Leber’s optic atrophy features

A

aged>30yrs, central scotoma → colour vision loss → rapid, significant visual impairment

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129
Q

MERRF in full

A

myoclonus epilepsy with ragged-red fibres

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130
Q

Kearns-Sayre features

A

aged<20yrs, external ophthalmoplegia, retinitis pigmentosa, sometimes with ptosis, AV block, proximal myopathy

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131
Q

What do T helper 1 cells secrete

A

IFN gamma, IL2, IL3

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132
Q

What do T helper 1 cells mediate

A

cell-mediated response, T4 hypersensitivity.

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133
Q

What do T helper cells express

A

CD4, recognises MHC class II antigens, also expresses CD3, TCR, CD28.

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134
Q

What do T helper 2 cells mediate

A

hummoral (antibody-led) immunity

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135
Q

What do Th2 cells secrete

A

Secrete IL4, 5, 6, 10, 13

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136
Q

What do cytotoxic t cells express

A

CD8, recognises MHC class I antigens, also expresses CD3, TCR,

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137
Q

What type of organ rejection do T cells mediate

A

acute, chronic rejection

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138
Q

What type of organ rejection do B cells mediate

A

hyperacute

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139
Q

What produces IL-1

A

macrophages

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140
Q

IL-1 function

A

Fever, inflammation

Costimulator of T, B cell proliferation.

Stimulates vasoactive factors (PAF, NO, prostacyclin) → vasodilation, increase vascular permeability → mediator of shock in sepsis.

141
Q

IL-1 inhibitors and uses

A

anakinra for Rh Arth

Canakinumab for IL-1 beta for systemic juvenile idiopathic arthritis, adult-onset Still’s

142
Q

what produces IL2

A

Th1 cells

143
Q

IL2 function

A

T cell response growth and differentiation

144
Q

What produces IL3

A

Activated T helper cells

145
Q

IL3 function

A

Bone marrow stimulation

146
Q

What produces IL4

A

Th2 cells

147
Q

IL4 function

A

Stimulates B cells diff+prolif. IgE

148
Q

what produces IL5

A

Th2 cells

149
Q

IL5 function

A

Stimulates Eosinophil production. IgA.

150
Q

what produces IL6

A

macrophages
Th2

151
Q

IL6 function

A

Stimulates B cell diff, fever

152
Q

What produces IL8

A

macrophages

153
Q

IL8 function

A

neutrophil chemotaxis (IL8 brings a mate)

154
Q

What produces IL10

A

Th2

155
Q

IL10 function

A

Inhibits Th1 cytokine production. Anti-inflammatory. Known as human cytokine synthesis inhibitory factor

156
Q

What produces IL12

A

dendritic cells, macrophages, B cells

157
Q

Il12 function

A

Activates NK cells, stimulates naive T cell differentiation into Th1 cells

158
Q

What produces TNF alpha

A

macrophages

159
Q

TNF alpha function

A

fever
neutrophil chemotaxis

160
Q

Interferon main uses

A

vs viruses, neoplasia

161
Q

What produces interferon alpha

A

leucocytes

162
Q

Interferon alpha function

A

Antiviral
HBV, HCV, Kaposi’s
metastatic RCC
Hariy cell leukaemia

163
Q

SE of IFN alpha

A

flu-like sx, depression

164
Q

What produces IFN beta

A

Fibroblasts

165
Q

IFN beta function

A

MS, antiviral

166
Q

What produces IFN gamma

A

Th1 cells
natural killer cells

167
Q

IFN gamma function

A

Activates macrophages. Key for granuloma formation. Used in TB, chronic granulomatous disease, osteopetrosis

168
Q

What is macrophage activation syndrome associated with and how to diagnose it

A

Adult-onset Still’s, Juvenile Idiopathic Arthritis

Dx: fever + High ferritin>684 + one of pltlt<181, AST>49, triglycerides>156, fibrinogen <360. Hepatosplenomegaly common

169
Q

How are leukotrienes produced

A

formed from arachidonic acid by action of lipoxygenase, secreted by leukocytes,

170
Q

Leukotriene function and action

A

mediates inflammation, allergic reactions.

Causes bronchoconstriction, mucous production, increases vasc permeability, attracts leucocytes.

171
Q

What is NSAID related bronchospasm in asthmatics due to

A

excess production of leukotrienes due to prostaglandin synthetase inhibition

172
Q

Endothelin actions

A

long-acting, potent vaso + bronchoconstricton

G-protein linked phospholipase C activity → Ca release.

173
Q

Endothelin activation

A

ecreted as prohormone by vascular endothelium, converted to ET-1 by endothelin converting enzyme.

174
Q

What stimulates endothelin release

A

Angiotensin II, ADH, hypoxia, mechanical shearing forces.

175
Q

What inhibits endothelin

A

nitric oxide, prostacyclin

176
Q

What coditions is endothelin raised in?

A

PAH, MI, HF, AKI, asthma

177
Q

Commonest to least commonest Ig

A

IgG (75%)
IgA (15%)
IgM (10%)
IgD (1%)
IgE (0.1%)

178
Q

IgG features and actions

A

monomer, enhances phagocytosis, fixes complement, passes to foetal circulation

179
Q

IgA features and actions

A

monomer/dimer, breast milk, secretions, transported via transcytosis

180
Q

IgM features and actions

A

pentamer, primary responder to infection, fixes complement but does not pass to foetal circulation, Anti-A, B abs

181
Q

IgD features and actions

A

monomer, activates B cells

182
Q

IgE features and actions

A

monomer, T1 hypersensitivity, synthesised by plasma cells, binds to Fc receptors on mast cell/basophil surfaces, immunity vs parasites

183
Q

How is nitric oxide made

A

Nitric oxide synthetase forms it from L-arginine and oxygen. Inducible form present in macrophages. Half-life seconds, before inactivation by oxygen free radicals.

184
Q

nitric oxide actions

A

acts on guanylate cyclase, leading to raised intracellular cGMP, reduces Ca levels, vasodilation (venodilation), inhibits pltlt aggregation. Low/underproduction of NO → hypertrophic pyloric stenosis, atherosclerosis. High NO → sepsis.

185
Q

Type 1 hypersensitivity

A

Type 1: anaphylactic, Antigen vs IgE bound to mast cells, atopy

186
Q

Type 2 hypersensitivity

A

cell bound, IgG/M vs antigen on cell surface. ITP, Autoimmune haemolytic anaemia, Goodpasture’s, pernicious anaemia, acute haemolytic transfusion reactions, rheumatic fever, pemphigus vulgaris/bullous pemphigoid

187
Q

Type 3 hypersensitivity

A

IgG/A + antigen immune complex. Serum sickness, SLE, post-streptococcal glomerulonephritis, extrinsic allergic alveolitis (acute)

188
Q

Type 4 hypersensitivity

A

delayed, T-cell mediated. TB, GvHD, contact dermatitis, scabies, extrinsic allergic alveolitis (chronic), MS, GBS

189
Q

Hereditary angioedema

A

Aut dom. C1 inh deficiency (multifunctional serine protease inhibitor), uncontrolled release of bradykinin. C4 best screening tool, low C1 inh see in attacks. acute: V C1-inhibitor concentrate, FFP, prophylaxis: danazol (anabolic steroids)

190
Q

C1q, 1rs, 2, 4 deficiency

A

(classical pathway, important for clearance of immune complexes): immune complex disease (eg SLE, HSP)

191
Q

C3 deficiency

A

recurrent bacterial infections

192
Q

C5 deficiency

A

Leiner disease - recurrent diarrhoea, wasting, seborrheic dermatitis, serious infantile erythroderma, recurrent local + systemic infections

193
Q

C5-9 deficiency

A

(used for membrane attack complex), Neisseria meningitidis

194
Q

Standard error calculation

A

measure of spread expected for the mean of the observations. SD/square root of n.

195
Q

Standard deviation

A

square root of variance. 68.3% of values within 1 SD of mean, 95.4% within 2 SD, 99.7% within 3SD. 1.96 SD of mean encompasses 95% of distribution

196
Q

Relative risk calculation

A

Experimental event rate/control event rate

197
Q

Relative risk reduction/increase calculation

A

absolute risk change/control event rate

198
Q

Odds ratio cacluation

A

divide odds in experimental group/odds in control

199
Q

Hazard ratio calculation

A

similar to relative risk, but used typically for analysing survival over time

200
Q

Sensitivity calc

A

TP/(TP+FN)

201
Q

Specificity

A

TN/(TN+FP)

202
Q

Likelihood ratio for positive test

A

sensitivity/(1-specificity). How much odds of disease increase when test is positive

203
Q

Likelihood ratio for negative test:

A

(1-sensitivity)/specificity. How much odds of disease decrease when test is negative

204
Q

Numbers needed to treat:

A

1/absolute risk reduction

205
Q

point vs period prevalence

A

point prevalence - cases/number of people at a time. Period prevalence - cases identified in a time/number of people in population.

Prevalence = incidence x duration of condition

206
Q

T1 error

A

null hypothesis rejected when it is true

207
Q

T2 error

A

null hypothesis accepted when it is false

208
Q

Power

A

1 - probability of type 2 error

209
Q

Parametric tests

A

Student’s t-test (paired - single group/unpaired - different groups), Pearson’s for correlation

210
Q

Non-parametric tests

A

Mann-Whitney U test: for ordinal, interval, or ratio scales of unpaired data
Wilcoxon signed-rank: before vs after in same population
Chi-squared: compare proportions or percentages
Spearman, Kendall rank: correlation

211
Q

Negatively skewed distribution

A

mean<median<mode (peak is skewed to right on graph)

212
Q

+vely skewed distribution

A

mean>median>mode (peak skewed to left) (postive going forward ->)

213
Q

What are RCTs limited by

A

practical/ethical issues

214
Q

Cohort studies

A

relative risk as outcome, prospective.

215
Q

Case-control studies

A

odds ratio as outcome, retrospective.

216
Q

cross-sectional survey

A

provide weak evidence of cause and effect

217
Q

What are new drugs tested for (3 types)

A

New drugs tested to either show superiority (large sample size required), equivalence (shown by use of equivalence margin and overlapping of CIs), non-inferiority (only lower CI needs to lie within equivalence margin)

218
Q

Funnel plots

A

to assess publication bias. Treatment effects on horizontal axis, study size on vertical axis

219
Q

Selection bias

A

sampling bias (unrepresentative of population), volunteer bias, non-responder bias, loss to follow up bias, prevalence/incidence bias, admission bias (hospital settings), healthy worker effect

220
Q

Recall bias

A

problem in case-control studies

221
Q

Publication bias

A

negative/uninteresting result studies excluded

222
Q

Work-up bias

A

studies comparing new diagnostic tests vs gold standard tests (often gold standard tests invasive so reluctant to order these tests)

223
Q

Expectation bias

A

in non-blinded trials

224
Q

Hawthorne effect

A

group changing behaviour as they know they’re being studied

225
Q

Late-look bias

A

gathering information at inappropriate time

226
Q

Procedure bias

A

subjects in different groups receive different treatment

227
Q

Lead-time bias

A

when two tests compared with new test diagnosing disease earlier, making survival times look more promising for new test

228
Q

Clinical trial phases

A

Phase 0: exploratory, assess drug behaviour in human body, assesses pharmacokinetics, pharmacodynamics
Phase I: side-effects, healthy volunteers
Phase IIa: optimal dosing. IIb: efficacy
Phase III: effectiveness, 100-1000s of people, RCTs
Phase IV: postmarketing surveillance, long-term SE, effectiveness

229
Q

X-recessive conditions

A

Androgen Insensitivity syndrome, Becker/Duchenne, Colour blindness, Diabetes insipidus (nephrogenic), Eyes (retinitis pigmentosa, most inherited eye diseases: retinitis pigmentosa, ocular albinism, colour blindness), Fabry’s, G6PD def, Haemophilia A/B, Hunter’s, Lesch-Nyhan, Wiskott-Aldrich

230
Q

X dominant conditons

A

FAIR COX Fragile X, Alport’s, Incontinentia Pigmenti, Charcot Marie Tooth type X, Orofaciodigital syndrome, X-linked hypophosphataemic rickets (Vit D resistant rickets)

231
Q

Autosomal recessive conditions

A

metabolic, except inherited ataxias Albinism, Ataxic telangiectasia, Congenital adrenal hyperplasia, CF, Cystinuria, Familial mediterranean fever, Fanconi’s anaemia, Fiedreich’s ataxia, Gilbert’s, Glycogen storage disease, Haemochromatosis, Homocystinuria, Lipid storage disease, mucopolysaccharidoses (Hurler’s), PKU, Sickle cell, Thalassaemia, Wilson’s

232
Q

Autosomal dominant conditions

A

structural, except Gilbert’s, Hyperlipidaemia Type II. Very Powerful DOMINANT H6umans: Von Willibrand’s/Von Hippel Lindau, Pseudohypoparathyroidism, Dystrophia myotonica, Osteogenesis imperfecta/Osler-Weber-Rendau, Marfan’s, Intermittent porphyria, Neurofibromatosis, Achondroplasia, APCKD, Noonan’s, Tuberous Sclerosis, Hypercholesterolaemia, Huntington’s, HOCM, Hereditary spherocytosis, HNPCC, Hereditary haemorrhagic telangiectasia, Hypokalaemic periodic paralysis

233
Q

HLA A3 association

A

Haemochromatosis

234
Q

Which Chromosome is HLA on

A

Chr 6

235
Q

HLA B51

A

Behcet’s

236
Q

HLA B27

A

Ank spond
reactive arthritis
acute anterior uveitis
psoriatic arthrits

237
Q

HLA DQ2/8

A

coeliac

238
Q

HLA DR1

A

Bronchiectasis

239
Q

HLA DR2

A

narcolepsy
Goodpasture’s
Also SLE

240
Q

HLA DR3

A

Dermatitis herpetiformis, Sjogren’s, PBC
(Also autoimmune hepatitis, T1DM, SLE)

241
Q

HLA DR4

A

T1DM, Rh arth (DRB1*04:01, 04:04)

242
Q

Down’s features

A

Shortened neck, protruding tongue, Brushfield’s spots (white spots in iris), ALL, hypothyroid, cardiac compl, subfertility, LD, repeated resp infections, Alzheimer’s, atlantoaxial instability

243
Q

Risk of child getting Down’s based on age

A

risk at 30 1/800, 35 1/270, 40 1/100, 45 1/50.

244
Q

Down’s cause

A

Maternal nondisjunction 94%, Robertsonian translocation 5%, mosaicism 1%

245
Q

Turner’s features

A

bicuspid aortic valve 15%, coarctation 5-10%, dissection, cystic hygroma, high-arched palate, short 4th MC, multiple pigmented naevi, neonatal lymphoedema, hypoT4, horseshoe kidney, autoimmune, Crohn’s. High gonadotrophin.

246
Q

Noonan’s features

A

Aut dom, Chr12 (noon’s at 12pm), ‘male Turner’s’ short stature, dysmorphic features, congenital cardiac disease (pulmonary stenosis), normal fertility in women, cryptorchidism in men, triangular face, Factor 11 def

247
Q

William’s features

A

Microdeletion in Chr 7. Friendly, social, LD, short, supravalvular AS, transient neonatal hyperCa. Dx: FISH studies

248
Q

Achondroplasia features

A

Aut dom, FGFR-3 mutation, shortened limbs/fingers, large head, midface hypoplasia, trident hands, lumbar lordoses

249
Q

What feature is common in trinucleotide repeat disorders

A

anticipation common (earlier age onset with successive generations)

250
Q

Fragile X genetics and features

A

X-linked CGG. Facial feature, Reduced tone, Autism, Giant scrotum, Inability to learn, Loose mitral valve (prolapse), Escaped by female (normal to mild). Dx: Southern blot, CGG repeats detected using restriction endonuclease digestion.

251
Q

Huntington’s genetics and features

A

CAG. Aut dom. Chr 4 huntingtin gene. Cholinergic, GABAergic neuronal degeneration in basal ganglia striatum. Chorea, personality changes, intellectual impairment, dystonia, saccadic eye movements (age>35)

252
Q

Myotonic dystrophy genetics and features

A

Aut dom. Delayed skeletal (myotonia, weakness), cardiac (Heart block, CDM), smooth muscle relaxation, cataracts, diabetes, dysarthria. Other features: b/l ptosis, frontal balding, myotonic facies (long, ‘haggard’ appearance)

Type 1: Distal. CTG repeat at end of DMPK gene on Chr 19

Type 2: Proximal. ZNF9 gene repeat expansion on Chr 3

253
Q

Friedrich’s ataxia genetics and features

A

GAA rpt on X25 gene on Chr 9 (frataxin), no anticipation. Aut Rec. 10-15yrs onset. Gait ataxia, kyphoscoliosis. Absent ankle jerks/extensor plantars (mixed UMN/LMN), optic atrophy (pale discs), spinocerebellar degeneration, HOCM (90%), DM, high-arched palate

254
Q

Prader-Willi genetics and feature

A

paternal 15q11-13 microdeletion (70%), maternal uniparental disomy Chr 15. (Angelman’s if paternal). Hypotonia, dysmorphia, short, hypogonadism, infertility, LD, obesity, behavioural issues

255
Q

Factors increasing ADH

A

extracellular fluid osmolality increase, volume decrease, pressure decrease, angiotensin II.

256
Q

Factors reducing ADH

A

extracellular fluid osmol decrease, volume increase, temperature decrease

257
Q

What passes through the optic canal

A

ophthalmic artery, CNII

258
Q

What passes through the superior orbital fissure

A

superior + inferior ophthalmic vein, CN III, IV, lacrimal, frontal and nasociliary branches of ophthalmic nerve (V1), VI

259
Q

What passes through the inferior orbital fissure

A

inferior ophthalmic veins, infraorbital artery + vein. Zygomatic nerve, infraorbital nerve of maxillary nerve (V2), orbital branches of pterygopalatine ganglion

260
Q

What passes through the foramen rotundum

A

Maxillary nerve (V2)

261
Q

What passes through the foramen ovale

A

Accessory meningeal artery. Mandibular nerve (V3)

262
Q

What passes through the jugular foramen

A

Posterior meningeal artery, ascending pharyngeal artery, inferior petrosal sinus, sigmoid sinus, internal jugular vein. CNs IX, X, XI.

263
Q

Corneal reflex

A

V1/7

264
Q

Jaw jerk reflex

A

V3/V3

265
Q

Gag reflex

A

9, 10

266
Q

Carotid sinus reflex

A

9, 10

267
Q

Pupillary light reflex

A

2/3

268
Q

Lacrimation reflex

A

V1/7

269
Q

Musculocutaneous nerve roots

A

c5-7

270
Q

Musculocutaneous nerve motor

A

elbow flexion + supination.

271
Q

Musculocutaneous nerve sensory

A

lateral forearm

272
Q

Axillary nerve roots

A

C5-6

273
Q

Axillary nerve motor

A

shoulder abduction (deltoid

274
Q

Axillary nerve sensory

A

inferior deltoid muscle region.

275
Q

Injury mechanism for axillary nerve and feature

A

humeral neck #, flattened deltoid

276
Q

Radial nerve roots

A

C5-8

277
Q

Radial nerve motor

A

extension (forearm, writs, fingers, thumb).

278
Q

Radial nerve sensory

A

small area between dorsal aspects of 1st and 2nd metacarpals.

279
Q

Injury of radial nerve

A

humeral midshaft # → wrist drop

280
Q

Median nerve root

A

C6,8, T1

281
Q

Median nerve motor

A

LOAF (lateral 2 lumbricals, opponens pollicis, abductor pollicis brevis, flexor pollicis brevis) muscles.

282
Q

Median nerve sensory

A

palmar aspect of lateral 3.5 fingers

283
Q

Median nerve injury

A

wrist lesion → carpal tunnel syndrome, paralysis of thenar muscles, opponens pollicis. Elbow lesion → loss of pronation of forearm and weak wrist flexion

284
Q

Ulnar nerve roots

A

C8, T1

285
Q

Ulnar nerve motor

A

medial two lumbricals, adductor pollicis, interossei, hypothenar muscles (abductor + flexor digiti minimi), flexor carpi ulnaris.

286
Q

Ulnar nerve sensory

A

medial 1.5 fingers (palmar + dorsal).

287
Q

Ulnar nerve injury

A

medial epicondyle #

Damage at wrist: ‘claw hand’ hyperextension at MCP joints, flexion at 4th, 5th DIP+PIP joints, wasting + paralysis of intrinsic hand muscles (except lateral 2 lumbricals), hypothenar muscles, sensory loss to medial 1.5 fingers

Damage at elbow: + radial deviation of wrist

288
Q

Long thoracic nerve root

A

C5-7

289
Q

Long thoracic nerve motor

A

serratus anterior

290
Q

long thoracic nerve injury

A

sports/mastectomy → winged scapula

291
Q

Erb-Duchenne palsy

A

waiter’s tip, upper brachial plexus, 2 to shoulder dystochia, arm hangs by side, internally rotated, elbow extended

292
Q

Klumpke’s palsy

A

lower brachial plexus, 2 to shoulder dystochia or sudden upward jerk of hand. Assx: horner’s

293
Q

Dermatomes

A

C2: posterior half of skull (cap)
C3: high turtleneck shirt
C4: low-collar shirt
C5: Ventral axial line of upper limb
C6: thumb + index finger (Make a 6 with left hand with thumb + index finger together)
C7: middle finger + palm of hand
C8: ring + little finger
T4: Nipples (T4 at the Teat Pore)
T5: inframammary fold
T6: xiphoid process
T10: umbilicus
L1: inguinal ligament
L4: knee caps
L5: big toe, dorsum of foot (except lateral aspect)
S1: lateral foot, small toe
S2,3 genitalia

294
Q

Which is the only cervical nerve root that comes out below vertebra

A

c8

295
Q

What is in direct contact with the right kidney

A

right suprarenal gland, duodenum, colon.

296
Q

What is in direct contact with the left kidney

A

left suprarenal gland, pancreas, colon

297
Q

What is associated with vitamin B1 deficiency

A

ETOH excess, malnutrition

298
Q

Consequences of vitamin B1 defiency

A

Wernicke’s: nystagmus, ophtalmoplegia, ataxia. → Korsakoff’s: amnesia, confabulation

Dry beriberi: rapidly progressive poly + peripheral neuropathy

Wet beriberi: dilated CDM

299
Q

Vitamin B1 name

A

thiamine

300
Q

Vit B2 name

A

riboflavin

301
Q

Vit B1 function

A

catabolism of sugars, aminoacids.

302
Q

vit B2 function

A

cofactor of flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN).

303
Q

Vit B2 deficiency

A

angular cheilitis

304
Q

Vit B3 name

A

niacin

305
Q

vit B3 function

A

precursor to NAD+ and NADP+.

306
Q

vit B3 def causes

A

Hartnup’s disease (hereditary, reduces tryptophan absorption)

carcinoid syndrome (increased tryptophan metabolism to serotonin).

307
Q

Vit B3 deficiency

A

pellagra (dermatitis, diarrhoea, dementia)

308
Q

Vit B6 name

A

pyridoxine

309
Q

vit B6 function

A

converted to pyridoxal phosphate (involved in transamination, deamination, decarboxylation).

310
Q

vit B6 deficiency risk factor

A

isoniazid

311
Q

vit B6 deficiency consequences

A

peripheral neuropathy
sideroblastic anaemia

312
Q

vit B12 deficiency causes

A

pernicious anaemia, post gastrectomy, terminal ileum disorders eg Crohn’s (absorbed in terminal ileum), vegan diet, metformin (rare)

313
Q

How to treat vit b12 def

A

IM hydroxycobalamin 1mg 3 times/wk for 2 wks then once every 3 months if no neuro

314
Q

vit C deficiency features

A

impaired collagen synthesis. Bleeding gums/gingivitis, follicular hyperkeratosis, perifollicular haemorrhage, ecchymosis, easy bruising, poor wound healing, sjogren’s, arthralgia, oedema, impaired wound healing, weakness, malaise, anorexia, depression

315
Q

Vit C in iron absorption

A

Vit C can improve iron absorption (Fe3+ to Fe2+ conversion)

316
Q

vit D - water or fat soluble

A

fat soluble

317
Q

vit D forms in plants and skin

A

D2 ergocalciferol (plants), D3 cholecalciferol (dairy, sunlight).

318
Q

vit D actions

A

increasing renal Ca + PO4 reabsorption, increases osteoclastic activity, increases gut Ca absorption.

319
Q

vitamin K water or fat soluble?

A

fat soluble

320
Q

vit K function

A

cofactor for Factors 2,7,9,10.

321
Q

When vit K is given how long does it take to reverse warfarin

A

4 hrs for INR change

322
Q

Vit K deficiency causes

A

after prolonged abx, conditions affecting fat absorption

323
Q

Where is iron absorbed

A

upper small intestine, esp duodenum

324
Q

What ion of iron is better absorbed?

A

Fe2+ better than Fe 3+

325
Q

Factors improving iron absorption

A

vit C
gastric acid

326
Q

Factors reducing iron absorption

A

PPIs
Doxy
Gastric achlorhydria
Tannin

327
Q

Sleep stages and waves

A

The Sleep Doctor’s Brain
N1: Theta waves, light sleep, hypnic jerks
N2: Sleep spindles + K complexes, Deeper sleep, 50% of total sleep
N3: Delta waves, deep sleep, parasomnias (night terrors, nocturnal enuresis, sleepwalking)
REM: Beta waves, dreaming, atonia, erections

328
Q

What happens in REM parasomnia

A

incomplete/absent atonia → sleepwalking, acts out dreams

329
Q

What produces collagen?

A

fibroblasts

330
Q

What vitamin is important for collagen?

A

vitamin c

331
Q

Collagen structure

A

3 polypeptide strands
helical

332
Q

Where do you find type 1 colalgen

A

bone, skin, tendon

333
Q

Osteogenesis imperfecta

A

Type 1 collagen defect

Aut Dom

8 subtypes, low pro-alpha 1 or pro-alpha 2 collagen polypeptides

blue sclera, otosclerosis, normal biochem.

Type 1: poor quantity. Type II: poor quantity + quality. Type III, IV: poor quality

334
Q

Where do you find type 2 collagen?

A

hyaline cartilage
vitreous humour

335
Q

Where do you find type 3 collagen?

A

reticular fibre
Granulation tissue

336
Q

Ehlers-Danlos syndrome

A

Vascular variant:
collagen type 3 defect
COL3A1 gene mutations, Aut dom, AR, MVR, A diss, SAH, angioid streaks

Classical variant:
Collagen type 5 defect
COL5A1, COL5A2 gene mutations

337
Q

Where is Type 4 collagen found?

A

basal lamina
lens
basement membrane

338
Q

Defects in type 4 collagen

A

Alport’s
Goodpasture’s

339
Q

Where is type 5 collagen found?

A

most interstitial tissue
placental tissue

340
Q

What do different molecular biology techniques test for

A

SNOW DROP
Southern blotting DNA
Northern blotting RNA
Western blotting Proteins

PCR used for prenatal dx, detecting mutated oncogens, infections, forensics

341
Q

Flight rules: no flights for which conditions?

A

Unstable angina
Uncontrolled HTN
Uncontrolled arrhythmia
Decompensated HF
Severe Valvular diease

342
Q

Rules for flights for MI

A

no flights for 7-10 days for uncomplicated
4-6 wks for complicated
10 days for CABG
3 days after PCI

343
Q

Rules for flights with strokes

A

10 days post event
3 days if stable

344
Q

Rules for flights with pneumonia?

A

Only if clinically improved with no residual infection

345
Q

rules for flights with pneumothorax?

A

2 wks post successful, complete drainage

346
Q

Rules for flights with pregnancy

A

not after 36wks or 32wks for multiple pregnancy.

347
Q

Rules for flights after surgery

A

avoid for 10 days following abdominal surgery, after 24hrs post lap, 24hrs post colonoscopy, 24 hrs for plaster cast (if <2hrs), (48 hrs for longer flights)

348
Q

Rules for flights with low Hb

A

Hb<8 - restrictions

349
Q

Layers of epidermis

A

Come Let’s Get Sun Burnt

Stratum Corneum (dead cells with keratin, sheds)
Lucidum (clear, in thick skin)
Granulosum (forms links with neighbours)
Spinosum (squamous cells begin keratin synthesis, thickest layer)
Basale/germinativum (basement membrane, gives rise to keratinocytes, contains melanocyte)

MRCP Revision (10 decks)

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