Principles of Disease summary Flashcards
1
Q
In what genes can mutations occur that cause breast cancer?
A
BRCA1/BRCA2
2
Q
What does a defective CFTR gene cause?
A
Cystic Fibrosis
3
Q
What gender are affected by Y-linked diseases?
A
Males
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
5
Q
What do mutations in the p53 gene prevent?
A
Cell cycle from stopping
6
Q
What does severe damage cause the p53 pathway to do?
A
Trigger apoptosis
7
Q
Trisomy 21 is more commonly known as what?
A
Down’s Syndrome
8
Q
DNA is packaged by wrapping itself around what?
A
Histone proteins
9
Q
Name a method of detection of Down’s, Edward’s and Patau syndrome
A
Amniocentesis
10
Q
Name a method of detection for Turner and Klinefelter Syndrome
A
Karyotyping (chromosome analysis)
11
Q
Name the most simple method of detection of Cystic Fibrosis
A
Sweat test, to measure salt content of sweat
12
Q
Translocation of what chromosomes is a risk for Down’s Syndrome?
A
14 and 21
13
Q
RNA is produced from DNA via what process?
A
Transcription
14
Q
How is tRNA produced?
A
Translation of mRNA
15
Q
What kind of cells are produced in Mitosis? (i.e. haploid/diploid)
A
Diploid
16
Q
In Meiosis, diploid cells divide to produce what?
A
Haploid cells
17
Q
What kind of mutations won’t be passed on to future generations?
A
Somatic
18
Q
What kind of mutations cause no significant phenotypic change?
A
Silent
19
Q
What is Triploidy?
A
Rare chromosomal abnormality where cells have 3 sets of chromosomes rather than 2. Lethal condition.
20
Q
What does a nucleotide consist of?
A
Base + (deoxy)ribose sugar + phosphate
21
Q
What are the 3 major phases of Interphase?
A
G1, S and G2
22
Q
In what stage of Mitosis do chromosomes align at the equator?
A
Metaphase
23
Q
In what stage of Mitosis do sister chromatids separate and move to opposite ends of the cell?
A
Anaphase
24
Q
What is Cytokinesis?
A
The last stage of Mitosis in which the cytoplasm separates producing 2 new daughter cells.
25
Name the organelle which is the site of protein synthesis.
Ribosomes
26
What is an Adenoma?
Benign, glandular, epithelial tumour
27
Name a squamous, epithelial, malignant tumour
Squamous carcinoma
28
Name the 5 most common sites of metastasis
```
Brain
Liver
Lungs
Bone
Adrenal Glands
```
29
Give a disadvantage of MRI?
Claustrophobic and noisy for patient
| Cannot image patients with pacemakers or metal prosthetics
30
Name a contrast agent used in MRI?
Gadolinium DPTA
31
What is the biomarker used for colon cancer?
CEA
32
What is Her2 a biomarker for?
Breast cancer
33
What is alpha-fetoprotein a biomarker for?
Teratoma of testes
| Hepatocellular Carcinoma
34
Are staphylococci clusters or chains?
Clusters
35
What shape are bacilli?
Rod
36
Name a coagulase negative gram positive cocci
Staphylococcus Epidermidis/Haemolyticus
37
What species of staphylococcus is coagulase positive?
Staphylococcus Aureus
38
Are Streptococci species gram positive or negative?
Gram positive
39
What Streptococcus species are alpha-haemolytic?
Streptococcus Pneumoniae
| Viridans Sterptococci
40
Name a gram positive cocci that is non-haemolytic
Enterococci Faecalis
41
What species are gram positive, aerobic and spore forming?
Bacillus species
42
Are Clostridium species spore forming or non-spore forming?
Spore forming
43
What does Clostridium Difficile cause?
Diarrhoea
44
What species causes gas gangrene?
Clostridium Perfringens
45
Clostridium Tetani can cause what?
Tetanus
46
Neisseria Gonorrhoeae causes what?
Gonorrhoea
47
How is Neisseria Meningitidus treated?
With IV penicillin
48
Bacteriodes Fragilis are resistant to what antibiotic?
Penicillin
49
Are Pseudomonas species gram negative or gram positive?
Gram negative
50
What species are a cocci-bacilli mix?
Pseudomonas
51
Name a species which is aerobic and lactose fermenting
Escherichia Coli
52
What do Shigella species cause?
Dysentery
53
Proteus species are a cause of what kind of infection?
UTIs
54
What species can be treated by amoxicillin?
Streptococci
55
Name an antibiotic used to treat Enterococcus Faecalis
Piperacillin
56
Do Vancomycin and Teicoplanin act only on gram negative or gram positive species?
Gram positive
57
Name a penicillin alternative for patients who are allergic to penicillin
Clarithromycin/Erythromycin
58
Do Tetracyclines have a small or broad spectrum?
Broad
59
What can Linezolid be used to treat?
MRSA
60
Amphotericin B is given via IV for what infections?
Serious yeast and other fungal infection
61
What antimicrobial is used to treat serious Candida and Aspergillus infections?
Echinocandins
62
What is the antimicrobial used to treat the Herpes Simplex virus?
Aciclovir
63
What species causes Malaria?
Plasmodium species (with mosquito vector)
64
What can be used to detect Malaria?
Gyms stained blood films to show damaged red blood cells (thick and thin films)
65
What is antigenic drift?
Small changes in virus genes that happen constantly and gradually over time
66
What is antigenic shift?
Abrupt major changes in virus resulting in production of new proteins in the virus that infect humans with little or no resistance
67
What are the cardinal signs of inflammation?
Calor, Dolor, Rubor, Tumor
| Heat, Pain, Redness, Swelling
68
What are the causes of acute inflammation?
```
Micro-organisms
Mechanical trauma to tissue
Chemical changes
Extreme physical conditions
Dead tissue
Hypersensitivity
```
69
What is a benefit of acute inflammation?
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
In the acute inflammation "triple response", is there local arteriolar constriction or dilation?
Local arteriolar dilation
71
What is margination?
Movement of neutrophils to the endothelial aspect of the lumen
72
What are the systemic effects of acute inflammation?
Pyrexia
Malaise
Neutrophilia
Septic Shock
73
What can systemic infection resulting from acute inflammation lead to?
Sepsis
Bacteraemia
Septicaemia
Toxaemia
74
What cells types are involved in chronic inflammation?
Lymphocytes
Macrophages
Plasma Cells
Fibroblasts
75
When does chronic inflammation arise from acute inflammation?
Large volume of damage
Inability to remove debris
Failure to resolve acute inflammation
76
What are the effects of chronic inflammation?
Scarring and fibrosis
| Granuloma formation
77
Inhibition of angiogenesis will do what to wound healing and repair?
Impair it
78
What is angiogenesis?
Formation of new blood vessels
79
What antibody mediates type I hypersensitivity and what does it trigger?
IgE
| Triggers mast cell response
80
What cells differentiate to produce IgE antibody?
B cells
81
What is type I hypersensitivity more commonly known as?
Allergy
82
What type of hypersensitivity is not antibody mediated?
Type IV
83
Type III hypersensitivity is mediated by what?
Immune complex
84
What antibody/antibodies mediate type II hypersensitivity and what do they trigger?
IgG and IgM
| Trigger complement system (causing cell lysis)
85
When does granulation tissue formation occur?
After a large amount of damage
| Inability to remove dirt from the wound
86
In granulation tissue formation, fibroblasts lay down a protein, what is this protein and what does it help do?
Collagen
| Repair the damage
87
What is histamine?
A preformed mast cell mediator involved in early phase local inflammatory responses.
88
What does histamine do?
Increases capillary permeability to white blood cells and some proteins
89
What is exudation?
Pus formation
90
What is the name given to the accumulation of pus under pressure?
Abscess
91
Where are most drugs metabolised?
In the liver
92
What are prodrugs?
Drugs that are activated following metabolism
93
What kind of acids are most drugs?
Weak acids
94
Name a major constitutive enzyme found in the liver
CYP3A4
95
What can drugs such as Clarithromycin inhibit?
Drug metabolising enzymes
96
What must a drug be in order to pass across a lipid layer?
In solution and lipid soluble
97
What do drugs given rectally bypass?
First pass metabolism
98
What is the theoretical volume of distribution?
40L
99
What is first pass metabolism?
Metabolism of a drug prior to reaching systemic circulation
100
What does a long half life indicate?
That plasma levels will stay high for longer
101
What can half life help us to determine?
How often a drug should be administered
102
What are the primary organs for drug excretion?
Kidneys
103
What is a side effect of Isoniazid?
Peripheral Neuropathy
104
What are the 4 basic factors which determine drug pharmacokinetics?
Absorption
Distribution
Metabolism
Elimination
105
What 3 families of Cytochrome P450 enzymes are important in oxidative metabolism?
CYP1
CYP2
CYP3
106
What is the bioavailability of a drug given intravenously?
100%
107
What is drug interaction?
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
Are type A adverse drug reactions predictable or unpredictable?
Predictable
109
What type of adverse drug reaction is Iatrogenic Cushing's disease
Chronic
110
What type of adverse drug reaction might affect the children of patients?
Delayed
111
Withdrawal seizures following the discontinuation of anti-epileptic drugs is an example of what type of adverse drug reaction?
End of Treatment
112
Antagonists block the actions of what?
Agonists
113
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)
Synergistic
114
What type of pharmacodynamic interaction is NSAIDs interacting with anti-hypertensive medication?
Indirect
115
When would GNT (Glyceryl Trinitrate) be administered?
As and when angina pain happens or when angina pain is expected to happen e.g. before exercise which may cause chest pain
116
What is a double blind trial?
Where neither doctor nor patient know whether whether the drug being taken is control or study drug
117
Patients are assigned to trial groups randomly to prevent bias in what kind of drug trial?
Randomised
118
What kind of gloves are safer/better for providing protection against chemical and biohazard materials?
Nitrile
119
Nitrofuratonin is used only in treatment of what infections?
UTIs
120
What serious infection indicates treatment with IV Vancomycin?
MRSA
121
GTN can be administered by the sublingual route to avoid what?
First pass metabolism
122
Nystatin is used topically or in oral suspension for treatment of what?
Serious fungal infections
123
Serious infection with a gram negative organism such as E. coli indicates treatment with what?
Gentamicin
124
What antimicrobial can be used to treat B-lactamase producing staphylococcus aureus?
Flucloxacillin
125
What is the best choice for IV treatment of serious pneumococcal, meningococcal and streptococcus pyogenes infections (as well as most gram positive infections)?
Benzyl-penicillin
