Principles of Disease summary Flashcards

1
Q

In what genes can mutations occur that cause breast cancer?

A

BRCA1/BRCA2

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2
Q

What does a defective CFTR gene cause?

A

Cystic Fibrosis

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3
Q

What gender are affected by Y-linked diseases?

A

Males

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4
Q

Name 2 pathways in the cell cycle in which genes become mutated and can lead to cancer.

A

Cyclin pRb pathway

p53 pathway

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5
Q

What do mutations in the p53 gene prevent?

A

Cell cycle from stopping

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6
Q

What does severe damage cause the p53 pathway to do?

A

Trigger apoptosis

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7
Q

Trisomy 21 is more commonly known as what?

A

Down’s Syndrome

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8
Q

DNA is packaged by wrapping itself around what?

A

Histone proteins

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9
Q

Name a method of detection of Down’s, Edward’s and Patau syndrome

A

Amniocentesis

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10
Q

Name a method of detection for Turner and Klinefelter Syndrome

A

Karyotyping (chromosome analysis)

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11
Q

Name the most simple method of detection of Cystic Fibrosis

A

Sweat test, to measure salt content of sweat

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12
Q

Translocation of what chromosomes is a risk for Down’s Syndrome?

A

14 and 21

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13
Q

RNA is produced from DNA via what process?

A

Transcription

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14
Q

How is tRNA produced?

A

Translation of mRNA

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15
Q

What kind of cells are produced in Mitosis? (i.e. haploid/diploid)

A

Diploid

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16
Q

In Meiosis, diploid cells divide to produce what?

A

Haploid cells

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17
Q

What kind of mutations won’t be passed on to future generations?

A

Somatic

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18
Q

What kind of mutations cause no significant phenotypic change?

A

Silent

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19
Q

What is Triploidy?

A

Rare chromosomal abnormality where cells have 3 sets of chromosomes rather than 2. Lethal condition.

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20
Q

What does a nucleotide consist of?

A

Base + (deoxy)ribose sugar + phosphate

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21
Q

What are the 3 major phases of Interphase?

A

G1, S and G2

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22
Q

In what stage of Mitosis do chromosomes align at the equator?

A

Metaphase

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23
Q

In what stage of Mitosis do sister chromatids separate and move to opposite ends of the cell?

A

Anaphase

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24
Q

What is Cytokinesis?

A

The last stage of Mitosis in which the cytoplasm separates producing 2 new daughter cells.

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25
Q

Name the organelle which is the site of protein synthesis.

A

Ribosomes

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26
Q

What is an Adenoma?

A

Benign, glandular, epithelial tumour

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27
Q

Name a squamous, epithelial, malignant tumour

A

Squamous carcinoma

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28
Q

Name the 5 most common sites of metastasis

A
Brain
Liver
Lungs
Bone
Adrenal Glands
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29
Q

Give a disadvantage of MRI?

A

Claustrophobic and noisy for patient

Cannot image patients with pacemakers or metal prosthetics

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30
Q

Name a contrast agent used in MRI?

A

Gadolinium DPTA

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31
Q

What is the biomarker used for colon cancer?

A

CEA

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32
Q

What is Her2 a biomarker for?

A

Breast cancer

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33
Q

What is alpha-fetoprotein a biomarker for?

A

Teratoma of testes

Hepatocellular Carcinoma

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34
Q

Are staphylococci clusters or chains?

A

Clusters

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35
Q

What shape are bacilli?

A

Rod

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36
Q

Name a coagulase negative gram positive cocci

A

Staphylococcus Epidermidis/Haemolyticus

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37
Q

What species of staphylococcus is coagulase positive?

A

Staphylococcus Aureus

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38
Q

Are Streptococci species gram positive or negative?

A

Gram positive

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39
Q

What Streptococcus species are alpha-haemolytic?

A

Streptococcus Pneumoniae

Viridans Sterptococci

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40
Q

Name a gram positive cocci that is non-haemolytic

A

Enterococci Faecalis

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41
Q

What species are gram positive, aerobic and spore forming?

A

Bacillus species

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42
Q

Are Clostridium species spore forming or non-spore forming?

A

Spore forming

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43
Q

What does Clostridium Difficile cause?

A

Diarrhoea

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44
Q

What species causes gas gangrene?

A

Clostridium Perfringens

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45
Q

Clostridium Tetani can cause what?

A

Tetanus

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46
Q

Neisseria Gonorrhoeae causes what?

A

Gonorrhoea

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47
Q

How is Neisseria Meningitidus treated?

A

With IV penicillin

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48
Q

Bacteriodes Fragilis are resistant to what antibiotic?

A

Penicillin

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49
Q

Are Pseudomonas species gram negative or gram positive?

A

Gram negative

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50
Q

What species are a cocci-bacilli mix?

A

Pseudomonas

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51
Q

Name a species which is aerobic and lactose fermenting

A

Escherichia Coli

52
Q

What do Shigella species cause?

A

Dysentery

53
Q

Proteus species are a cause of what kind of infection?

A

UTIs

54
Q

What species can be treated by amoxicillin?

A

Streptococci

55
Q

Name an antibiotic used to treat Enterococcus Faecalis

A

Piperacillin

56
Q

Do Vancomycin and Teicoplanin act only on gram negative or gram positive species?

A

Gram positive

57
Q

Name a penicillin alternative for patients who are allergic to penicillin

A

Clarithromycin/Erythromycin

58
Q

Do Tetracyclines have a small or broad spectrum?

A

Broad

59
Q

What can Linezolid be used to treat?

A

MRSA

60
Q

Amphotericin B is given via IV for what infections?

A

Serious yeast and other fungal infection

61
Q

What antimicrobial is used to treat serious Candida and Aspergillus infections?

A

Echinocandins

62
Q

What is the antimicrobial used to treat the Herpes Simplex virus?

A

Aciclovir

63
Q

What species causes Malaria?

A

Plasmodium species (with mosquito vector)

64
Q

What can be used to detect Malaria?

A

Gyms stained blood films to show damaged red blood cells (thick and thin films)

65
Q

What is antigenic drift?

A

Small changes in virus genes that happen constantly and gradually over time

66
Q

What is antigenic shift?

A

Abrupt major changes in virus resulting in production of new proteins in the virus that infect humans with little or no resistance

67
Q

What are the cardinal signs of inflammation?

A

Calor, Dolor, Rubor, Tumor

Heat, Pain, Redness, Swelling

68
Q

What are the causes of acute inflammation?

A
Micro-organisms 
Mechanical trauma to tissue 
Chemical changes 
Extreme physical conditions 
Dead tissue 
Hypersensitivity
69
Q

What is a benefit of acute inflammation?

A

Rapid response to non-specific insult
Cardinal signs and loss of function protect site
Neutrophils destroy pathogens and denature antigens for macrophages
Plasma proteins localise process
Allows resolution and return to normal

70
Q

In the acute inflammation “triple response”, is there local arteriolar constriction or dilation?

A

Local arteriolar dilation

71
Q

What is margination?

A

Movement of neutrophils to the endothelial aspect of the lumen

72
Q

What are the systemic effects of acute inflammation?

A

Pyrexia
Malaise
Neutrophilia
Septic Shock

73
Q

What can systemic infection resulting from acute inflammation lead to?

A

Sepsis
Bacteraemia
Septicaemia
Toxaemia

74
Q

What cells types are involved in chronic inflammation?

A

Lymphocytes
Macrophages
Plasma Cells
Fibroblasts

75
Q

When does chronic inflammation arise from acute inflammation?

A

Large volume of damage
Inability to remove debris
Failure to resolve acute inflammation

76
Q

What are the effects of chronic inflammation?

A

Scarring and fibrosis

Granuloma formation

77
Q

Inhibition of angiogenesis will do what to wound healing and repair?

A

Impair it

78
Q

What is angiogenesis?

A

Formation of new blood vessels

79
Q

What antibody mediates type I hypersensitivity and what does it trigger?

A

IgE

Triggers mast cell response

80
Q

What cells differentiate to produce IgE antibody?

A

B cells

81
Q

What is type I hypersensitivity more commonly known as?

A

Allergy

82
Q

What type of hypersensitivity is not antibody mediated?

A

Type IV

83
Q

Type III hypersensitivity is mediated by what?

A

Immune complex

84
Q

What antibody/antibodies mediate type II hypersensitivity and what do they trigger?

A

IgG and IgM

Trigger complement system (causing cell lysis)

85
Q

When does granulation tissue formation occur?

A

After a large amount of damage

Inability to remove dirt from the wound

86
Q

In granulation tissue formation, fibroblasts lay down a protein, what is this protein and what does it help do?

A

Collagen

Repair the damage

87
Q

What is histamine?

A

A preformed mast cell mediator involved in early phase local inflammatory responses.

88
Q

What does histamine do?

A

Increases capillary permeability to white blood cells and some proteins

89
Q

What is exudation?

A

Pus formation

90
Q

What is the name given to the accumulation of pus under pressure?

A

Abscess

91
Q

Where are most drugs metabolised?

A

In the liver

92
Q

What are prodrugs?

A

Drugs that are activated following metabolism

93
Q

What kind of acids are most drugs?

A

Weak acids

94
Q

Name a major constitutive enzyme found in the liver

A

CYP3A4

95
Q

What can drugs such as Clarithromycin inhibit?

A

Drug metabolising enzymes

96
Q

What must a drug be in order to pass across a lipid layer?

A

In solution and lipid soluble

97
Q

What do drugs given rectally bypass?

A

First pass metabolism

98
Q

What is the theoretical volume of distribution?

A

40L

99
Q

What is first pass metabolism?

A

Metabolism of a drug prior to reaching systemic circulation

100
Q

What does a long half life indicate?

A

That plasma levels will stay high for longer

101
Q

What can half life help us to determine?

A

How often a drug should be administered

102
Q

What are the primary organs for drug excretion?

A

Kidneys

103
Q

What is a side effect of Isoniazid?

A

Peripheral Neuropathy

104
Q

What are the 4 basic factors which determine drug pharmacokinetics?

A

Absorption
Distribution
Metabolism
Elimination

105
Q

What 3 families of Cytochrome P450 enzymes are important in oxidative metabolism?

A

CYP1
CYP2
CYP3

106
Q

What is the bioavailability of a drug given intravenously?

A

100%

107
Q

What is drug interaction?

A

The modification of a drug’s effect by administration of one or more other drugs prior to or at the same time as administration

108
Q

Are type A adverse drug reactions predictable or unpredictable?

A

Predictable

109
Q

What type of adverse drug reaction is Iatrogenic Cushing’s disease

A

Chronic

110
Q

What type of adverse drug reaction might affect the children of patients?

A

Delayed

111
Q

Withdrawal seizures following the discontinuation of anti-epileptic drugs is an example of what type of adverse drug reaction?

A

End of Treatment

112
Q

Antagonists block the actions of what?

A

Agonists

113
Q

What is the name given to the effect achieved when two drugs with the same pharmacological effect are given concurrently (effect may be additive or multiplicative)

A

Synergistic

114
Q

What type of pharmacodynamic interaction is NSAIDs interacting with anti-hypertensive medication?

A

Indirect

115
Q

When would GNT (Glyceryl Trinitrate) be administered?

A

As and when angina pain happens or when angina pain is expected to happen e.g. before exercise which may cause chest pain

116
Q

What is a double blind trial?

A

Where neither doctor nor patient know whether whether the drug being taken is control or study drug

117
Q

Patients are assigned to trial groups randomly to prevent bias in what kind of drug trial?

A

Randomised

118
Q

What kind of gloves are safer/better for providing protection against chemical and biohazard materials?

A

Nitrile

119
Q

Nitrofuratonin is used only in treatment of what infections?

A

UTIs

120
Q

What serious infection indicates treatment with IV Vancomycin?

A

MRSA

121
Q

GTN can be administered by the sublingual route to avoid what?

A

First pass metabolism

122
Q

Nystatin is used topically or in oral suspension for treatment of what?

A

Serious fungal infections

123
Q

Serious infection with a gram negative organism such as E. coli indicates treatment with what?

A

Gentamicin

124
Q

What antimicrobial can be used to treat B-lactamase producing staphylococcus aureus?

A

Flucloxacillin

125
Q

What is the best choice for IV treatment of serious pneumococcal, meningococcal and streptococcus pyogenes infections (as well as most gram positive infections)?

A

Benzyl-penicillin