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Principles of Disease > Principles of Disease Overview > Flashcards

Principles of Disease Overview Flashcards

1
Q

What micro-organisms cause disease?

A 
Bacteria
Viruses
Fungi
Parasites
Prions
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2
Q

For UTI’s what specimen is collected for culture?

A

Mid-stream urine sample

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3
Q

In chest infections what specimen is collected for culture?

A

Sputum

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4
Q

In Tonsillitis what specimen is collected for culture?

A

Throat swab

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5
Q

In diarrhoea what specimen is collected for culture?

A

Stool Sample

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6
Q

In bacteraemia what specimen is collected for culture?

A

Blood culture

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7
Q

In meningitis what specimen is collected for culture?

A

CSF sample

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8
Q

What does microscopy allow?

A

The staining and quick detection of bacteria

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9
Q

Can microscopy determine identify the type of bacteria?

A

No

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10
Q

What do cultures allow?

A

Bacteria to be grown and identified by looking at their visible appearances and their growth pattern

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11
Q

What is a sterile site?

A

A site that should not contain any micro-organisms

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12
Q

Give examples of sterile sites

A

Blood
CSF
Bladder
Lungs

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13
Q

What is a non-sterile site?

A

A site that can contain commensal microbes that may not harm the body but will show up in microscopy or culture

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14
Q

Give examples of non-sterile sites

A

Urethra
Gut
Skin

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15
Q

What type of microscopy detects viruses?

A

Electron Microscopy

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16
Q

What colour do gram negative bacteria appear?

A

Red

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17
Q

What colour do gram positive bacteria appear?

A

Purple

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18
Q

What shape are cocci bacteria?

A

Spherical

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19
Q

What shape are bacilli bacteria?

A

Rod shaped

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20
Q

What is the function of the flagellum?

A

Motility

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21
Q

What is the function of fimbriae?

A

Adherence

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22
Q

What is the lipopolysaccharide a component of?

A

The cell wall

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23
Q

What do PBP’s synthesise?

A

Peptidoglycans

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24
Q

What is the name of a bacteria based on?

A

The genus and species

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25
Q

Do strains of a species have similar or different characteristics?

A

Similar

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26
Q

What technique is used to identify strains of bacteria?

A

Typing

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27
Q

What are viruses classified according to?

A

Host range
Virion Structure and morphology
Structure and replication of virus genome nucleic acid

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28
Q

Why must cell cultures for viruses take place in cell lines, tissues or animals?

A

Because viruses require living cells to live

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29
Q

What percentage CO2 are viruses grown within?

A

2%

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30
Q

Give examples of viruses that can cause tumour?

A

HPV
Retrovirus
Hepatitis B

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31
Q

Give examples of viruses that can affect the respiratory tract?

A

Influenza

Rhinovirus

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32
Q

Give examples of viruses that can affect the GI tract?

A

Rota virus

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33
Q

Give example of viruses that can affect the neurological system/

A

Enterovirus

Herpes simplex virus

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34
Q

What brings about active immunity?

A

Brought about by a foreign antigen triggering an immune response

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35
Q

Does active immunity create immunological memory?

A

Yes

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36
Q

What is an attenuated vaccine?

A

One where the live organism is used

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37
Q

Give examples of attenuated vaccines?

A

MMR, BCG

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38
Q

What are inactivated vaccines?

A

One where the killed micro-organism is used

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39
Q

What is an acellular vaccine?

A

One where only the antigenic part of the vaccine is used

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40
Q

What is a toxoid vaccine?

A

One where a bacterial toxin is used

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41
Q

What is used to inactive the bacterial toxins in toxoid vaccines?

A

Formalin

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42
Q

What is a conjugate vaccine?

A

Links the antigens or toxoids of the microbe so that it can recognise the polysaccharide layer of certain bacteria

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43
Q

Wha does passive immunity involve?

A

Inoculating the patient with antibodies specific to the pathogen

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44
Q

Does passive immunity provide immunological memory?

A

No

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45
Q

What is human normal immunoglobulin?

A

Contains all antibodies from an unselected pool of random blood donors

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46
Q

What is human specific immunoglobulin?

A

Blood donors selected have a high antibody level against the target organism

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47
Q

What is an advantage of passive immunity?

A

It gives immediate protection

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48
Q

What are the 2 broad classes of gram positive cocci?

A

Streptococci

Staphylococci

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49
Q

What appearance do staphylococci have?

A

Clusters

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50
Q

What appearance do streptococci have?

A

Chains

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51
Q

What test is used on gram positive staphylococci?

A

Coagulase test

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52
Q

What bacteria is staphylococci coagulase positive?

A

Staph. aureus

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53
Q

What bacteria is staphylococci coagulase negative?

A

Staph. epidermis

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54
Q

What are the 3 classes of streptococci?

A

Alpha haemolytic
Beta haemolytic
Non-haemolytic

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55
Q

What bacteria are usually non-haemolytic?

A

Enterococci

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56
Q

What are the 3 classes of streptococci beta haemolytic?

A

Group A B and C

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57
Q

What are the 3 gram positive anaerobic bacilli?

A

Clostridium difficile
Clostridium Perfinges
Clostridium Tatani

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58
Q

Where are exotoxins released?

A

Extracellularly by the micro-organism

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59
Q

What are enterotoxins?

A

Exotoxins which act on the GI tract

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60
Q

What are endotoxins structurally part of?

A

The gram negative cell wall

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61
Q

What are the 3 virus pathogenic mechanisms?

A

Cell destruction following virus infection
Virus-induced changes to cellular gene expression
Immunopathogenic disease

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62
Q

Give an example of cell destruction following viral infection?

A

T4+ cells death by HIV

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63
Q

Give an example of virus0induced changes to cellular gene expression

A

Cellular transformation by tumour viruses

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64
Q

Give an example of an immunopathogenic disease?

A

Influenza A

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65
Q

What is MIC?

A

The minimal inhibitory concentration - min conc. of antimicrobial needed to inhibit visible growth of a given organism

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66
Q

What is MBC?

A

The minimal bactericidal concentration - min conc. needed to kill the given organism

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67
Q

What is sensitive?

A

When the organism is killed or inhibited by given levels of the antimicrobial

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68
Q

What is resistant?

A

When the given organism is not killed or inhibited by the levels of antimicrobial

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69
Q

What is a bactericidal?

A

An antimicrobial that kills bacteria

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70
Q

What is a bacteriostatic?

A

An antimicrobial that inhibits the growth of a bacteria

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71
Q

What are the three mechanism that antibiotic use to combat bacteria?

A

Inhibit the synthesis of the cell wall
Inhibit the synthesis of nucleic acid
Inhibit protein synthesis

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72
Q

What are the two groups of B lactams?

A

Penicillin

Cephalosporin

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73
Q

What are the 2 groups of antibiotics that inhibit the synthesis of the cell wall?

A

B lactams

Glycopeptides

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74
Q

What was the original penicillin?

A

Benzyl penicillin

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75
Q

Give 2 examples of glycopeptides?

A

vancomycin

teicoplanin

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76
Q

What is vancomycin best for treating?

A

Gram negative bacteria

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77
Q

Who is vancomycin not suitable for?

A

Children

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78
Q

What are potential causes of acute inflammation?

A 
Micro-organisms
Mechanical trauma 
Chemical changes
Extreme physical conditions 
Dead tissue - necrosis 
Hypersensitivity
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79
Q

What happens to the blood vessels in inflammation?

A

Initially the vessels constrict - for protective reasons

Then the vessels dilate

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80
Q

What does vasodilation cause?

A

An increase in blood flow to the area

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81
Q

What is the triple response?

A

Flush, Flare Wheal

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82
Q

What cells are involved in acute inflammation?

A

Neutrophils

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83
Q

What happens to vessel permeability in acute inflammation?

A

There is an increase in vessel permeability

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84
Q

What is exudation?

A

When there is movement from plasma into the ECM of plasma and proteins

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85
Q

Give examples of proteins that are in the exudate

A

Fibrinogen

Immunoglobulin

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86
Q

What is fibrin?

A

A clotting factor

A polymer of fibrinogen

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87
Q

What oedema?

A

The accumulation of exudate in the ECM

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88
Q

What does oedema cause?

A

Swelling reducing function and causing pain

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89
Q

What is margination?

A

Neutrophils move to the endothelial aspect of the lumen

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90
Q

What is Pavementing?

A

When neutrophils adhere to the endothelia

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91
Q

What is emigration?

A

When the neutrophils squeeze between endothelia to the outside tissue

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92
Q

What are the systemic effects of acute inflammation?

A

Pyrexia
Malaise
Neutrophilia (increased WBC)
Septic shock

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93
Q

What is angiogenesis?

A

When blood vessels form at the site

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94
Q

Why do capillaries grow into the inflammatory mass?

A

To allow the access of plasma proteins, macrophages and fibroblasts

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95
Q

What does granulation tissue eventually form?

A

A scar

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96
Q

What is bacteriamia?

A

When there is bacteria in the blood

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97
Q

What is septicaemia?

A

When there is the growth of bacteria in the blood

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98
Q

What is toxaemia?

A

When there are toxins in the blood

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99
Q

What cell types are involved in chronic inflammation?

A

Lymphocytes
Macrophages
Plasma Cells
Fibroblasts

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100
Q

What are the 2 major causes of chronic inflammation?

A

Progressing from acute inflammation

Arising as a primary lesion

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101
Q

How does chronic inflammation arise from acute inflammation?

A

When there is a large volume of damage
There is the inability to remove the debris
Their is failure of the acute inflammation to resolve

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102
Q

When chronic inflammation arises from a primary lesion is there any acute phase?

A

No

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103
Q

What can primary chronic inflammation occur as a result of?

A

Autoimmunal disorder
Material resistant to cellular digestion
Exogenous substances
Endogenous substances

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104
Q

What factors can promote the healing and repair of chronic inflammation?

A

Cleanliness
Apposition of edges
Sound nutrition
Normal inflammatory and coagulation mechanisms

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105
Q

What factors can impair the healing and repair of inflammation?

A

Dirty gaping wounds
Poor nourishment (of vitamins ect)
Inhibition of angiogenesis

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106
Q

What Ab does type I hypersensitivity involve?

A

IgE

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107
Q

What is Type I Hypersensitivity commonly known as?

A

Allergy

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108
Q

What cells respond in type I hypersensitivity?

A

Mast cells

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109
Q

What happens during sensitisation in type I hypersensitivity?

A

The allergen is shown to T helper cell by an APC

This causes B cells to differentiate to produce IgE against the antigen

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110
Q

What happens onwards from sensitisation in Type I hypersensitivity?

A

The bodies exposure t the antigen will cause the release of cytokines from mast cells causing an allergic response

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111
Q

Which antibodies are involved with type II hypersensitivity?

A

IgG and IgM

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112
Q

What is type II hypersensitivity hard to distinguish from?

A

Autoimmunity

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113
Q

Why is type II hypersensitivity hard to distinguish from autoimmunity?

A

Because the bodies antibodies bind to the antigens on its own cel surfaces

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114
Q

What are formed in type III hypersensitivity?

A

Immune complexes

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115
Q

What are immune complexes?

A

Clumps of antibodies that have stuck together

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116
Q

Where do the immune complexes go in type III hypersensitivty?

A

They are deposited in tissues

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117
Q

What is the effect of deposited immune complexes in the tissue?

A

Inflammation

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118
Q

What recognises the antigens in type IV hypersensitivity and what do they produce when recognised?

A

CD4 helper T cells

Produce cytokines

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119
Q

What is the substance with the low m.w in type IV hypersensitivity known as?

A

Hapten

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120
Q

What is the hapten combined with?

A

Carrier protein

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121
Q

Why is the hapten combined with a carrier protein?

A

To produce sufficient antigenic bulk

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122
Q

What is an early phase response?

A

A response that occurs within minutes

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123
Q

What mechanism is used in early phase response?

A

The chemicals used are preformed in mast cells (histamine, heparin, chemotactic factors)

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124
Q

What mechanism is used in late phase response?

A

Newly synthesis mediators are involved

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125
Q

What is the effect of localised immune complex formation in type III hypersensitivity?

A

Local inflammation

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126
Q

What happens when there is systemic immune complex formation in type III hypersensitivity?

A

Complexes are deposited in tissues and organs such as the skin, joints, blood vessels and kidneys

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127
Q

What is an autoimmune disease?

A

A large group of clinical disorders by tissue organ damage mediated by incorrect immune mechanism targeted at self antigens

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128
Q

What factors are involved in the aetiology of autoimmune diseases?

A

Genetic factors
Hormonal factors
Environmental factors
Immune regulatory factors (the immune system is not working correctly)

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129
Q

What are the pathogenic mechanisms involved in autoimmune disease?

A 
Cell mediated 
Antibody mediated 
Antibody + complement 
Immune-complex mediated 
Recruitment of innate compounds
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130
Q

Give an example of an autoimmune disease of joints

A

Rheumatoid Arthritis

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131
Q

What are the 3 main types of parasites?

A

Protozoa
Helminths
Arthropods

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132
Q

Give examples of arthropods

A

Ticks
Lice
Mites

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133
Q

What is the vector of malaria?

A

Female mosquito

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134
Q

Gives three examples of protozoa parasites

A

Malaria
Amoebic Dysentery
Leishmaniasis

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135
Q

Give an example of helminths

A

Tape worm

Nematodes

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136
Q

In malaria what are injected under the skin?

A

Sprozoites

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137
Q

Where do sprozoites travel to and mature (malaria)?

A

Travel through the blood to the liver where they mature

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138
Q

When sprozoites have matured what do they re-enter the blood stream as?

A

Merozoites

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139
Q

What do merozoites in malaria go?

A

Re-enter circulation

Invade and destroy RBC

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140
Q

Is there any cure for malaria?

A

No

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141
Q

What is the side effect of amoebic dysentery?

A

Diarrhoea with blood and pus

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142
Q

How many species of leishmaniasis are there?

A

Several

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143
Q

What do leishmaniasis causes?

A

Skin and mucosal ulceration

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144
Q

What does visceral leishmaniasis cause?

A

Fever, weight loss

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145
Q

What is leishmaniasis spread by?

A

Spread by sandfly bites

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146
Q

What occurs in late disease amoebic dysentery?

A

Liver abscesses

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147
Q

How do trophoziote ingest red cells?

A

By pseudopodia

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148
Q

Give an example of a trematode worm?

A

Schistosomiasis

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149
Q

Where are the eggs secreted in schistosomiasis?

A

Urine or faeces

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150
Q

What is the intermediate host in schistosomiasis?

A

Snail

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151
Q

In schistosomiasis what emerges from the snail 4-6 weeks later?

A

Cercaria

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152
Q

What is the definitive host in schistosomiasis?

A

Humans

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153
Q

Where does schistosomiasis migrate in humans?

A

Lungs to liver

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154
Q

Give examples of organ specific autoimmune diseases

A

Thyroid - thyrotoxicosis
Stomach - pernicious anaemia
Adrenal - addisons disease

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155
Q

Give examples of non-organ specific autoimmune diseases

A

Muscles - dermatomyositis
Skin - scleorderma
Kidneys - SLE
Joints- rheumatoid arthritis

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156
Q

Do drugs have to be lipophobic or lipophilic to cross the membrane?

A

Lipophilic

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157
Q

Why do drugs have to resemble the naturally occurring substance in active transport?

A

So they fit through the pumps by having a similar conformation to the naturally occurring molecule

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158
Q

Do highly lipid soluble drugs diffuse through the membrane?

A

Yes - readily

159
Q

What do small changes in pH affect in drugs?

A

The ionisation and solubility

160
Q

Do ionised drugs cross the membrane?

A

No

161
Q

What happens to un-ionised drugs at the membrane?

A

They distribute across the membrane until equilibrium is reached

162
Q

What factors affect the absorption of a drug in the GI tract?

A

Motility
Food
Illness

163
Q

What is the effect of food on the absorption of a drug from the GI tract?

A

Can impair or enhance the action of the drug

164
Q

What is the effect of motility on the absorption of a drug in the GI tract?

A

Will affect the speed at which the drug will reach the site of absorption

165
Q

How do migraines affect the absorption of a drug from the GI tract?

A

Reduces the rate of stomach emptying

166
Q

What is first pass metabolism?

A

The metabolism of the drug prior to it reaching the site of absorption

167
Q

Where does first pass metabolism mainly occur?

A

Gut Lumen
Gut Wall
Liver

168
Q

What is the bioavailability of a drug administered IV?

A

100%

169
Q

Does IV have first pass metabolism?

A

No

170
Q

Where are inhaled drugs mainly metabolised?

A

Lungs

171
Q

Are small or large doses used in inhalation drugs?

A

Small doses

172
Q

Is there much systemic absorption of drugs administered by inhalation?

A

Little systemic absorption

173
Q

Does topical administration achieve local or systemic effects?

A

Both

174
Q

Does topical administration go through first pass metabolism?

A

Yes

175
Q

What is the bioavailability of a drug?

A

The amount of drug which reaches the circulation and is available for action

176
Q

What affects a drug ability to cross the membrane?

A

Particle size
Lipid solubility
pH and ionisation

177
Q

What factors determine the bioavailability of a drug?

A

Formulation
Drugs ability to pass physiological barriers
Gastrointestinal effects
First pass metabolism

178
Q

Give an example of a plasma protein that a drug binds to?

A

Albumin

179
Q

If a drug is bound to protein is it active?

A

No

180
Q

Is plasma protein binding of a drug reversible?

A

Yes

181
Q

For plasma protein binding to be important what percentage of the drug must be bound?

A

90%

182
Q

What affects drug distribution?

A 
Plasma Protein Binding 
Tissue Perfusion 
Membrane Characteristics
Transport Mechanisms 
Diseases/Other Drugs 
Elimination
183
Q

What 3 reactions are involved in phase 1 metabolism?

A

Hydrolysis
Oxidation
Reduction

184
Q

What does phase 1 metabolism increase?

A

The polarity of the compound

185
Q

What does phase 1 metabolism provide for phase 2 metabolism?

A

An active site

186
Q

What family of enzymes carry out phase 1 metabolism?

A

P-450

187
Q

What are the 3 P-450 enzymes involved in phase 1 metabolism?

A

CYP3A4
CYP2D6
CYP1A2

188
Q

Where is CYP3A4 found?

A

In the human layer

189
Q

Give examples of drugs that are metabolised by CYP3A$

A

Diazepam
Methadone
Simvastatin

190
Q

What does CYP2D6 metabolise?

A

Antidepressants, antipsychotics

191
Q

What does CYP2D6 convert codeine to?

A

Morphine

192
Q

In what percentage of the population does CYP2D6 have reduced expression?

A

5-10%

193
Q

What is CYP1A2 induced by?

A

By smoking

194
Q

What does phase 2 involve?

A

Conjugation

195
Q

What does conjugation do?

A

Increases the water solubility of a compound

196
Q

Why is increasing water solubility in conjugation important?

A

Makes secretion easier

197
Q

What does phase 2 involve the attachment of to the metabolite from phase 1?

A

Glucuronic acid
Gluthianone
Sulphate
Acetate

198
Q

Are all drugs inactivated by conjugation?

A

No but most are inactivated

199
Q

What is enzyme induction in drug metabolism?

A

Many of the metabolising enzymes can be induced by other substances

200
Q

What is the effect of enzyme induction?

A

More metabolising enzymes

Decreased drug effect

201
Q

What are the most common inducers of metabolising enzymes?

A

Alcohol

Smoking

202
Q

What does ethnicity affect in terms of drug?

A

Rarely they affect drug metabolism

203
Q

How does genetics affect drug metabolism?

A

Drug metabolising enzymes are often expressed in different forms so differences in individual gene expression is common

204
Q

Describe metabolising enzymes in foetuses and premature infants

A

The metabolising enzymes are often or reduced

205
Q

Describe the renal function in premature infants and foetuses and its effect on drug metabolism

A

Renal function is deficient - which can lead to a build up of the drug - toxicity

206
Q

By the age of 2 describe drug metabolism/

A

Drugs are metabolised faster than in adults

207
Q

Describe enzyme inhibition in drug absorption

A

many commonly used drugs can inhibit the metabolising enzymes

208
Q

Where are enteric tablets broken down?

A

In the small instetine

209
Q

Why are tablets coated with enteric coating?

A

To protect the tablet from the stomach acid

To prevent the stomach from the drug

210
Q

What are the benefits of tablets and capsules?

A

They are convenient
They have an accurate dose
They have an ease of mass production

211
Q

Are solutions/suspensions absorbed rapidly?

A

Yes

212
Q

What does the absorption of solutions and suspensions depend on?

A

Gastric emptying

213
Q

What drugs are suspensions good for?

A

Insoluble and unpalatable drugs

214
Q

What percentage of inpatients suffer ADR’s?

A

10-20%

215
Q

What percentage of hospital deaths are due to ADR’s?

A

0.25-3%

216
Q

How many deaths per year are caused by drug ADR’s?

A

5000-10000

217
Q

What percentage of hospital admissions are due to ADR’s?

A

6.5%

218
Q

What do A ADR’s stand for?

A

Augmented

219
Q

Describe type A ADR’s

A

Predictable
Dose dependent
Resolve when the drug is stopped
They ADR have been recognised before the drug is available

220
Q

What does type B ADR’s stand for?

A

Bizarre

221
Q

Describe type B ADR’s

A

Unpredictable
Rare
Can cause serious illness or death
It is unrelated to dose

222
Q

What does type C ADR’s stand for?

A

Chronic

223
Q

Describe type C ADR’s

A

They are related to dose
They are related to the length of treatment
It is semi-predictable

224
Q

What does type D ADR’s stand for?

A

Delayed

225
Q

Describe type D ADR’s

A

They occur years after treatment or in the children of the patient

226
Q

What does type E ADR’s stand for?

A

End of treatment

227
Q

Describe type E ADR’s

A

The effects causes when the dug treatment is stopped - especially suddenly (like withdrawal symptoms)

228
Q

What does type F ADR’s stand for?

A

Failure of treatment

229
Q

Describe type F ADR’s

A

They are common

Frequently caused by drug interactions

230
Q

What factor may predispose a patient towards drug-drug interactions?

A

Number of drugs on
The patients age
Wether the patient has a critical illness
Wether the patient is undergoing surgery
Whether the patient already has a chronic underlying condition

231
Q

What is a drug interaction?

A

Defined as the modification of a drugs effect by prior or concomitant administration of another drug, herb, food or drink

232
Q

What are the different types of drug interactions?

A 
Drug interactions 
Herbal interactions 
Food interactions 
Drink interaction 
Pharmacogenetics interactions
233
Q

What is the object drug?

A

The drug whose activity is effected by such an interaction

234
Q

What do clinical test provide?

A

Evidence

235
Q

What are the two reasons that drugs need to be tested?

A

For their efficacy (if they work)

For their safety ( are they safe)

236
Q

What is the exclusion criteria in drug trials?

A

Pregnant women
Children
Elderly
Seriously ill

237
Q

What factors have to be taken into consideration when choosing patients for clinical trials?

A

Age
Race
Compliance
Sex

238
Q

What are the control group given in a clinical trial?

A

Placebo

239
Q

What do you compare a drug in a clinical trial with to test its efficacy?

A

A placebo

With another drug

240
Q

What basics have to be taken into consideration when doing a drug trial?

A 
The time scale
The end result 
The choice of control drug 
The choice of patients 
The exclusion criteria 
The drug used
241
Q

What do we have to consider about the drug used in a clinical trial?

A

Formulation of the drug
Dose of the drug
Frequency that the drug is given

242
Q

What is a double blind trial?

A

Neither the doctor knows which of the drugs the subjects are getting (the drug or the control drug)

243
Q

What is a single blind clinical trial?

A

When the patient doesn’tknow if they are receiving the drug or control but the doctor does know

244
Q

What is a randomised clinical trial?

A

When the patients are assigned to a group at random to prevent bias

245
Q

What is a placebo controlled clinical trial?

A

When half the subjects get basically nothing and the other half get the drug
Comparisons are made at the end of the trial

246
Q

How many patients does Phase III of a clinical trial involve?

A

1000-3000

247
Q

How many subjects does Phase I of a clinical trial involve?

A

100

248
Q

How many subjects does a type II clinical trial involve?

A

Up to 500

249
Q

What is a pilot study?

A

To test the design of the study

250
Q

What are the disadvantages of a randomized control clinical trial?

A

Subjects may not represent general patient population
Twice as many people are needed for the study
Some physicians will refuse
Some patients will refuse

251
Q

What is a superiority design?

A

Shows that the new treatment is better than the control or standard

252
Q

How long can it take to get a chemical structure to a licensed drug?

A

10 years

253
Q

What drugs will bypass phase I of the trial?

A

Cytotoxics

254
Q

What type of subjects does phase I of a clinical trial use?

A

Volunteers

255
Q

What does Phase II of a clinical trial confirm?

A

The kinetics and dynamics in patients

256
Q

What does Phase III of a clinical trial establish?

A

The efficacy

Evidence of safety will also be established

257
Q

What does Phase IV of a clinical trial produce evidence for?

A

Long term safety

258
Q

What does p<0.05 mean?

A

It means that there’s less than a 5% chance your results were obtained by random chance or error

259
Q

What shape does DNA have?

A

Double helix

260
Q

What does a DNA nucleotide consist of?

A

Pentose sugar
Phosphate
Base

261
Q

In what direction do the strands run in DNA?

A

One strand runs 5’ to 3’

One strand runs 3’ to 5’

262
Q

What does DNA replication issemi-conservative and bi-directional mean?

A

That one half of each DNA molecule is old and the other half is new

263
Q

Are DNA strands created in the same or different direction?

A

Different

264
Q

In what direction are DNA strands created?

A

In a 5’ to 3’ direction

265
Q

Which enzyme unzips the DNA?

A

DNA Helicase

266
Q

What enzyme adds new nucleotides in DNA replication?

A

DNA polymerase

267
Q

Which enzyme joins the DNA fragments in the 3’ to 5’ strand?

A

DNA ligase

268
Q

What is each set of 3 bases called?

A

Codon

269
Q

What does each codon code for?

A

Amino acid

270
Q

How many amino acids are there?

A

20

271
Q

How many codon combinations are there?

A

64

272
Q

Does one amino acid refer to one codon?

A

No more than one codon can refer to one amino acid

273
Q

What amino acid has only one possible codon?

A

Methionine

274
Q

What is the initiation codon of transcription?

A

Methionine

275
Q

What codon stops transcription?

A

The termination codon

276
Q

The process of introns being removed and exons remaining in tact is known as what?

A

RNA splicing

277
Q

What sections of the RNA are spliced out?

A

Introns

278
Q

What sections of the RNA are coding and so remain intact?

A

Exons

279
Q

Once the mRNA has been produced what is added to the 5’ end?

A

A cap

280
Q

Once the mRNA has been produced what is added to the 3’ end?

A

A tail

281
Q

Where does translation occur?

A

Endoplasmic reticulum

282
Q

What does tRNA stand for?

A

Transfer RNA

283
Q

What is a germline mutation?

A

An inheritable mutation of gametes

284
Q

What is a somatic mutation?

A

A mutation of the other body cells which wont be passed onto future generations

285
Q

What is a silent mutation?

A

When one of the bases has be substituted but the codon still codes for the same amino acid meaning nothing has been changed in the sequence

286
Q

What is a missense mutation?

A

When the correct amino acid is replaced by an incorrect amino
The polypeptide makes some sense but not the original sense 1

287
Q

What is a nonsense mutation?

A

When the correct amino acid is replaced by a stop codon

There is premature ending of the polypeptide sequence and it makes no sense

288
Q

What is a frameshift mutation?

A

When a base is inserted or deleted
Consequently this cause all codons to shift
The whole sequence is changed

289
Q

In what sections of chromosomes is DNA expressed?

A

Euchromatin

290
Q

In what denser sections is the DNA inactive?

A

Heterochromatin

291
Q

What proteins is DNA wrapped around?

A

Histone

292
Q

What charge do histone proteins carry?

A

Positive

293
Q

The DNA wrapped around histone forms what?

A

Nucelosomes

294
Q

What are the tips of the arms of chromosomes called?

A

Telomeres

295
Q

What are the 6 stages of mitosis?

A 
Interphase
Prophase
Metaphase
Anaphase
Telophase
Cytokinesis
296
Q

What is mitosis?

A

The separation of the nucleus

297
Q

What is cytokinesis?

A

The separation of the cytoplasm

298
Q

What happens in prophase?

A

Chromosomes condense
Nuclear membranes disappear
Spindle fibres form from centrioles

299
Q

What happens in metaphase?

A

Chromosomes align at the equator of the cell
Attached by microfilaments to each centriole
Here there is maximum condensation of the chromosomes

300
Q

What happens in anaphase?

A

Sister chromatids separate at the centromere
Separate longitudinally
Move to opposite ends of the cell

301
Q

What happens in telophase?

A

New nuclear membrane form

Each cell has 46 chromosomes

302
Q

What happens in cytokinesis?

A

The cytoplasm separates

Forming 2 new daughter cells

303
Q

How many sperm cells are formed per meiotic cycle?

A

4

304
Q

Is there a higher chance for eggs or sperm to have mutations and why?

A

Sperm

Because they undergo many more divisions than eggs

305
Q

What is spermatogenesis?

A

The process of sperm production

306
Q

When does spermatogenesis commence?

A

In puberty

307
Q

What is oogenesis?

A

The process of egg division

308
Q

When does oogenesis occur?

A

In early embryonic life

309
Q

What is trisomy 21 more commonly known as?

A

Down’s syndrome

310
Q

With advancing age does chances of trisomy 21 increase or decrease?

A

Increase

311
Q

What is trisomy 13 more commonly known as?

A

Patau Syndrome

312
Q

What is trisomy 18 more commonly known as?

A

Edwards syndrome

313
Q

What is the disease with one X chromosome?

A

Turner syndrome

314
Q

What is the disease with XXY sex chromosomes?

A

Klinefelter snydrome

315
Q

What is the prognosis for Edwards syndrome?

A

Most die within the first year or months of life

316
Q

What is the prognosis for patau syndrome (trisomy 13)?

A

Very few survive beyond the first year of life

317
Q

What is a trisomy mutation?

A

When there are 3 copies of the chromosome

318
Q

What is a deletion mutation?

A

When a part of the chromosome deletes

319
Q

What are the two types of inversion mutations?

A

Paracentric

Pericentric

320
Q

What is a paracentric mutation?

A

When a section of the DNA in the arm of the chromosome is inverted

321
Q

What is a pericentric inversion mutation?

A

When a section of the DNA is inverted around the centromere of the chromosome

322
Q

What is a robertsonian translocation mutation?

A

When one of the chromosomes ends up with 2 long arms

When the other chromosome ends up with 2 short arms

323
Q

What 2 groups of antibiotics inhibit the synthesis of the cell wall?

A

B lactams

Glycopeptides

324
Q

What are the 2 groups of B lactams?

A

Penicillin

Cephalasporin

325
Q

What are the 2 groups of glycopeptides?

A

Vancomycin

Teicoplanin

326
Q

What was the original penicillin?

A

Benzyl penicillin

327
Q

What is a common problem with vancomycin?

A

Toxicity

328
Q

Do gylcopeptides act on gram positive or negative?

A

Gram positive

329
Q

What are the 4 groups of protein synthesising inhibitor antibiotics?

A

Aminoglycosides
Macrolides/Tetracyclines
Cyclic Lipopeptide
Oxazolidinones

330
Q

Are aminoglycosides especially useful in the treatment of gram negative or gram positive bacterial infections?

A

Serious gram negative

331
Q

What are macrolides a useful alternative to?

A

Penicillin - those with allergies

332
Q

What is an autosomal condition?

A

One which affects any chromosome other than the sex chromosomes

333
Q

How many copies of the affected gene are required to be affected in autosomal recessive conditions?

A

2

334
Q

How many copies of the affected gene are required to be affect in autosomal dominant conditions?

A

1

335
Q

In autosomal dominant inheritance which generations are affected?

A

Each generation is affected

336
Q

In autosomal recessive inheritance which generations are affected?

A

Generations are usually skipped

337
Q

What is the chance of inheriting the mutation in autosomal dominant?

A

50%

338
Q

Why are X linked recessive conditions more prominent in men?

A

Because they do not have a second X chromosome to mask the affected gene

339
Q

Who does Y linked inheritance affect?

A

Males only

340
Q

Where does all mitochondrial DNA come from?

A

Maternal origin

341
Q

Where does mitochondrial disease come from?

A

Maternal origin

342
Q

What is P?

A

Dominant

343
Q

What is Q?

A

Recessive

344
Q

What are the factors assumed in an idea population of genetics?

A 
Mutations are ignored 
Migration is negligible
Population size is large
Mating is random 
There are no selective pressures
345
Q

In genetics why is the expected not always the same as the observed?

A

Because fertilisation is a random process

346
Q

What does the classification of a tumour depend on?

A

The region where it is found

If it is benign or malignant

347
Q

What is a glandular benign tumour called?

A

Adenoma

348
Q

Does mitosis involve recombination?

A

It can

349
Q

What are the major eukaryotic histone proteins

A

H2A, H2B, H3 H4

350
Q

What do fibroblasts do?

A

Produce collagen

351
Q

What does histamine promote?

A

The relaxation of smooth muscle

352
Q

Where do neutrophil polymorphs have a major role?

A

In acute inflammation

353
Q

What is hypoxia?

A

Lack of O2 to tissues

354
Q

What does hypoxia impair?

A

The healing of tissue

355
Q

What two aspects of the human skeleton are useful in identifying sex in skeletonisation?

A

Skull and pelvis

356
Q

How is the age of the dead approximated in children?

A

Assessment of the epiphyses

357
Q

What bones are the most useful for the calculation of height?

A

Lower limb

358
Q

What information can be useful for personal identification?

A

Fingerprints
Dental records
DNA

359
Q

For the terms of this what is death defined as?

A

The irreversible failure of the cardiovascular system

360
Q

When the cardiovascular system fails what happens?

A

There is failure of O2 delivery resulting in tissue death
There is no blood pumping
The immune system ceases

361
Q

What is the best opportunity for timing of death?

A

First 18 hours

362
Q

What is the rule of thumb for the cooling after death?

A

1 degree per hour

363
Q

What is rigor mortis?

A

The stiffening or shortening of muscle fibres leading to the rigidity of the muscles and the fixation of the joints

364
Q

Is there any particular method that is good for determining time of death?

A

No

365
Q

What does hypostasis represent?

A

The pooling of stagnant blood in dependant regions of the body under the influence of gravity

366
Q

What is putrefaction?

A

Caused by the action of bacterial micro-organisms when the organism start to decay away at the body

367
Q

Who is more affected in X-linked recessive inheritance?

A

Males more than females

368
Q

Why are males more affected in X-linked recessive inheritance?

A

Because they only have one copy of the X chromosome

369
Q

Why can males not transmit X linked recessive to sons?

A

Because males pass on their Y chromosome to sons

370
Q

Why can males not transmit X linked dominant to sons?

A

Because males pass on their Y chromosomes to sons

371
Q

In autosomal dominant inheritance what is the chance of inheriting the mutation?

A

50%

372
Q

Who does Y linked inheritance affect?

A

Males only

373
Q

Why does Y linked affect males only?

A

Because only males have a Y chromosome

374
Q

What is mitochondrial inheritance disease a form of?

A

Maternal inheritance

375
Q

Why is mitochondrial disease a form of maternal inheritance?

A

Since all mitochondrial DNA comes solely from the mother

376
Q

What is anticipation?

A

The diseases are spotted in earlier generations and increase with severity in later ones

377
Q

What is genetic penetrance?

A

The frequency with which a trait is manifested by individuals carrying the gene

378
Q

With the gene CFTR and the disease cystic fibrosis what is the penetrance?

A

100%

379
Q

With the gene BRCA1/2 and the disease breast cancer what is the penetrance?

A

70-80%

380
Q

With the gene BRCA1/2 and the disease ovarian cancer what is the penetrance?

A

50%

381
Q

What is cystic fibrosis caused by?

A

A mutation in CFTR

382
Q

What environmental can affect the severity of disease?

A 
Lifestyle
Diet
Smoke
Alcohol
Drugs 
Stress
Air pollution 
Chemicals 
Infection
383
Q

What is epigenetic modifications?

A

Heritable changes in gene function that cannot be explained by changes in DNA sequence

384
Q

Why are mitochondria a mutation hotspot?

A

Lack of efficient DNA repair system
Lack of protective proteins such as histones
Damaged by reactive oxygen species
100-fold higher than nuclear genome

385
Q

Give examples of anticipation diseases?

A

Huntington’s disease
Myotonic dystrophy
Fragile X syndrome

386
Q

Describe myotonic dystrophy

A

Autosomal dominant disorder
Severe distal muscle weakness
Age of onset decreases with successive generations
Learning difficulties

387
Q

What are proto-oncogenes?

A

Genes that code for cell growth and regulation

388
Q

What are oncogenes?

A

They do not regulate growth and just accelerate it forming a tumour

389
Q

What is a tumour suppressor gene?

A

Genes that act as the brakes for cell growth

390
Q

How do tumour suppressor genes act as brakes for cell growth?

A

They can inhibit the cell cycle

Or promote apoptosis

391
Q

Describe the double hit hypothesis

A

Both a proto-oncogene and tumour suppressor gene are hit by mutations

392
Q

What are the purine bases?

A

Adenine

Guanine

393
Q

What are the pyrimidines bases?

A

Thymine

Cytosine

Principles of Disease (14 decks)

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