203 L2

Question 1

What are the two major causes of etiologic factors?

Answer 1

Intrinsic or genetic (inherited)

Acquired or environmental

Question 2

Intrinsic or inherited - cystic fibrosis

Caused by a ——— in the ———– gene

The clinical phenotype varies based on the ———–

Autosomal recessive disorder (Both parents are heterozygous carriers of the gene)

Results in thick ——– mostly in the ——– causing obstruction in the ——-, infection and damage to the ——- tissue - dilated airways.

Answer 2

Caused by a mutation in the CFTR gene

The clinical phenotype varies based on the mutation

Autosomal recessive disorder (Both parents are heterozygous carriers of the gene)

Results in thick secretions mostly in the lungs causing obstruction in the airways, infection and damage to the lung tissue - dilated airways.

Question 3

Acquired or environmental - Asbestosis

Asbestos fibres are ———- so exposure to it results in —– ——-.

Long exposure can result in a rare ——- that arises in the cells that are in the —– of the lung.

Answer 3

Asbestos fibres are carcinogenic so exposure to it results in lung fibrosis (scarring of the lung tissue and the surface over the lung)

Long exposure can result in a rare tumour that arises in the cells that are in the pleura of the lung

Question 4

Most diseases is an interaction of ——- and —– factors.

—— may not be the direct cause of the disease, but may ———- the risk of obtaining the disease.

Example - Crohns disease

——— risk factors in combination with ——- agents results in an abnormal ——– response that causes ——– in the lining of the bowel

Can have the ——— risk factors but without the ——— agent (environmental factor) it doesn’t result in disease.

Answer 4

Most diseases is an interaction of genetic and environmental factors.

Genes may not be the direct cause of the disease, but may increase the risk of obtaining the disease.

Example - Crohns disease

Genetic risk factors in combination with infectious agents results in an abnormal immune response that causes inflammation in the lining of the bowel

Can have the genetic risk factors but without the infectious agent (environmental factor) it doesn’t result in disease.

Question 5

Pathogenesis

Sequence of changes which occurs in the cells and tissues following the initial genetic or environmental events

Generally cells, tissues and organ systems react to the initial etiologic events in the following ways:

Degeneration and atrophy
Apoptosis and necrosis
Inflammation
Regeneration, hyperplasia and hypertrophy
Dysplasia and neoplasia

Answer 5

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Question 6

Disease Process

Aetiology
Pathogenesis
Structural changes in the cells or tissues
Clinical manifestations

Answer 6

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Question 7

Molecular, structural and functional changes in tissues

Structural changes
Gross changes
Microscopic - gives information about the pathology

Answer 7

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Question 8

Clinical manifestations

Symptoms of the disease
Clinical signs
Laboratory and radiological changes
Clinical course, therapy and complications

Clinical Pathology aids the clinician in:

Diagnosis

• Prognosis
• Monitor response

Strategies

• Screening strategies
• Preventative

Answer 8

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Question 9

Investigation of a mass/ abnormal tissue or organ system

Biopsy tissue
Fine needle aspiration

Morphology - looking at the cells, types of cells present, architecture of the tissue (normal vs infected)

Microbiology - culturing for bacteria

Antigen expression
- looking at the proteins at the surface of the cells to determine what the type of cells are there.

• Staining the tissues with labeled antibodies.
• For liquid suspended cells use a flow cytometry machine - fluorescent antibodies bind to the cells with the proteins which is measured

Molecular studies - genome, mutations, inheritance/acquired

• Karyotype - chromosome analysis
• FISH - looks at specific chromosome and genes.
• DNA analysis

Answer 9

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Question 10

Breast cancer pathology

Clinical significance of Her-2 gene amplification

Her-2 is a proto-oncogene (potential cancer gene) - it encodes for an epidermal growth factor receptor in mammary cells

The Her-2 protein is over-expressed in 30% of breast cancer patients. In 90% of cases, this is due to amplification of the Her-2 gene

Her-2 protein is a target for the antibody herceptin

Herceptin binds to the Her2 protein, blocking the binding of the growth factor and induces death of the cancer cell

Answer 10

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