section 1 Flashcards

(50 cards)

1
Q

What is aetiology?

A

Aetiology is the cause of a disease, which can be genetic, environmental, or multifactorial.

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2
Q

What is pathogenesis?

A

Pathogenesis refers to the mechanisms through which aetiology operates to produce pathological and clinical manifestations of a disease.

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3
Q

What are the three main categories of aetiology?

A

Genetic, environmental, and multifactorial.

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4
Q

What is an idiopathic disease?

A

A disease with an unknown cause.

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5
Q

What is a risk factor in disease?

A

A condition or behaviour associated with an increased likelihood of developing a disease.

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6
Q

Name three mechanisms of pathogenesis.

A

Inflammation, degeneration, carcinogenesis.

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7
Q

What is inflammation?

A

A response to harmful agents causing tissue injury.

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8
Q

What is degeneration?

A

The deterioration of cells or tissues due to failure of adaptation.

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9
Q

What is carcinogenesis?

A

The process by which cancer-causing agents lead to tumour formation.

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10
Q

What is the difference between a symptom and a sign?

A

A symptom is what the patient experiences (e.g., pain), whereas a sign is what a doctor observes (e.g., high blood pressure).

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11
Q

Give an example of a specific symptom.

A

Diarrhoea or a skin rash.

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12
Q

What is a syndrome?

A

A combination of signs and symptoms characteristic of a particular disease.

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13
Q

What are some symptoms of Cushing’s syndrome?

A

Obesity, hypertension, thinning skin, and reddish-purple stretch marks.

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14
Q

What is a lesion in pathology?

A

A structural or functional abnormality responsible for ill health.

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15
Q

What is a disease complication?

A

A secondary or prolonged effect of a disease.

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16
Q

What is an example of a disease complication?

A

A lung embolism resulting from thrombosis in the leg.

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17
Q

What is prognosis?

A

The anticipated outcome of a disease.

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18
Q

What factors influence prognosis?

A

Medical or surgical intervention and disease severity.

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19
Q

Define morbidity.

A

The incidence or prevalence of illness in a population.

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20
Q

What is mortality in epidemiology?

A

The probability of death as the outcome of a disease.

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21
Q

Define prevalence.

A

The total number of cases of a disease in a specified population at a given time.

22
Q

How is prevalence different from incidence?

A

Incidence refers to new cases, while prevalence includes all existing cases.

23
Q

What is a transcriptional activator?

A

A protein that increases gene expression by binding to a promoter or enhancer.

24
Q

How can a gene be regulated by moving it to a different location?

A

It can be placed under the control of a different promoter, altering when and where it is expressed.

25
What is epigenetics?
The study of heritable changes in gene expression without changes in DNA sequence.
26
Name one mechanism of epigenetic regulation.
DNA methylation.
27
What is alternative splicing?
A process where different exons are joined together to create multiple mRNA variants from a single gene.
28
What is polyadenylation?
The addition of a poly(A) tail to mRNA to stabilise it.
29
Name the three stages of translation.
Initiation, elongation, and termination.
30
What happens during translation initiation?
The ribosome assembles around the start codon.
31
What is the role of chaperone proteins in translation?
They assist in proper protein folding.
32
What is aetiology?
Aetiology is the study of the causes of diseases. It includes genetic, environmental, and multifactorial causes.
33
What is pathogenesis?
Pathogenesis refers to the biological mechanisms by which an aetiological factor leads to the structural and functional changes seen in a disease.
34
What are the key differences between aetiology and pathogenesis?
- Aetiology identifies the cause of a disease. * Pathogenesis explains how the cause leads to the development of the disease.
35
What are the different types of aetiological factors?
* Genetic: Inherited mutations or disorders acquired during conception. * Environmental: Includes infections (bacteria, viruses, fungi, parasites), chemical exposure, and physical trauma. * Multifactorial: A combination of genetic predisposition and environmental influences.
36
What does 'idiopathic' mean in medicine?
It refers to diseases with no known cause.
37
What is a risk factor?
A condition or behaviour that increases the likelihood of developing a disease, such as smoking for lung cancer.
38
What are the main mechanisms of pathogenesis?
1. Inflammation: The immune response to infection or injury. 2. Degeneration: The deterioration of cells due to ageing, toxins, or metabolic issues. 3. Carcinogenesis: The transformation of normal cells into cancerous cells due to genetic mutations and environmental triggers.
39
How does inflammation contribute to disease?
Inflammation helps eliminate harmful stimuli but can cause tissue damage if prolonged (chronic inflammation).
40
What is the role of degeneration in disease?
It leads to loss of function in tissues or organs, as seen in neurodegenerative diseases.
41
What is carcinogenesis?
The process by which normal cells acquire mutations that result in uncontrolled cell growth, forming tumours.
42
What is the difference between symptoms and signs?
* Symptoms: Subjective experiences reported by the patient (e.g., fatigue, pain). * Signs: Objective measurements observed by a healthcare professional (e.g., fever, high blood pressure).
43
What is a syndrome?
A collection of symptoms and signs that together indicate a specific disease or disorder.
44
What are examples of specific symptoms?
* Diarrhoea (indicative of gastrointestinal issues). * Skin rash (possible allergic reaction or infection).
45
What are the key clinical features of Cushing’s syndrome?
* Obesity. * Hypertension. * Thinning skin that bruises easily. * Reddish-purple stretch marks on the abdomen and thighs.
46
What is a lesion in pathology?
A lesion is a structural or functional abnormality that is the direct cause of disease symptoms, such as an infarct in a heart attack.
47
What is a complication of disease?
A secondary effect that arises due to the primary disease. For example, a pulmonary embolism can occur due to a deep vein thrombosis.
48
What is prognosis?
Prognosis is the expected outcome of a disease, influenced by factors such as severity, treatment, and patient condition.
49
What is an example of prognosis in lung cancer?
The 5-year survival rate for lung cancer is approximately 5%.
50
What is morbidity?
The incidence or prevalence of illness in a population.