Class 1 - Introduction and Genetics

Question 1

Pathophysiology Definition

Answer 1

The study of the underlying changes in body physiology (molecular, cellular, and organ systems) that result from disease or injury

Question 2

Disease Definition

Answer 2

An acute or chronic illness that one acquires or is born with that causes physiological dysfunction

Question 3

Illness Definition

Answer 3

A person’s experience of a disease

Question 4

Epidemiology Definition

Answer 4

The study of patterns of disease in large groups of people

Question 5

Incidence vs. Prevalence

Answer 5

Incidence is the number of new cases during a specific time

Prevalence is the existing disease at any given time

Question 6

Levels of Prevention

Answer 6

Primary: prevents disease from occurring
Secondary: early detection
Tertiary: prevents deterioration/complications

Question 7

Clinical Manifestations (Signs and Symptoms)

Answer 7

Signs: objective and measurable
Symptoms: subjective

Question 8

Non-modifiable Risk Factors

Answer 8

• Heredity/genetics
• Age
• Sex
• Ethnicity

Question 9

Modifiable Risk Factors

Answer 9

• Smoking
• Alcohol and drug use
• Level of activity / immobility
• Body weight
• Diet / nutrition
• Environment
• Social determinants of health
• Stress

Question 10

Etiology Definition

Answer 10

The study of the causes of disease

1. intrinsic: genetics, immune system, cell structures
2. extrinsic: bacteria, trauma, exposure to chemicals, hot and cold
3. idiopathic: unknown
4. iatrogenic: related to healthcare “nosocomial”

Question 11

Multifactorial: Etiological Processes of Disease

Answer 11

• Diseases caused by a number of genes acting together and influenced by other factors
  eg. genetics and inflammation, immune, infection, cardiovascular disease, cancer etc

Question 12

Obstruction: Etiological Processes of Disease

Answer 12

• can occur anywhere there is a tube
  1. mechanical: something structural or physical is blocking (kidney stone)
  2. functional: paralysis of the tube

Question 13

Mutation

Answer 13

• Any inherited alteration fo genetic material. Can be caused by radiation, various chemicals and mutagens
  1. Base pair substitution: one base pair is substituted for another (t-a -> g-c)
  2. Frameshift mutation: additions or deletion of one base pair - everything behind the addition or subtraction is affected

Question 14

Aneuploidy

Answer 14

• Abnormal number of chromosomes, either 45 o 47

- Due to non-disjunction - can either happen during meiosis I or meiosis II. It’s the improper splitting of chromosomes

Question 15

Turner Syndrome

Answer 15

• Single X chromosome
• 45 total chromosome
• Genetically female
• Shorter, wider apart nipples, cardiovascular structural abnormalities, intellect is normal

Question 16

Klinefelter Syndrome

Answer 16

• XXY
• Genetically male, but with feminine characteristics
• Taller, reduced facial hair, reduced body hair, breast development, feminine fat distribution, osteoporosis and small testes

Question 17

Trisomy 21 - Down Syndrome

Answer 17

• Lower ears, large tongue (impacts speech and breathing), extra folds in the eyes, smaller stature, intellectual impairment, often have cardiac structural abnormalities,
• Risk factor: how old the mother is. Sharp incline after age of 35
• Cause: extra chromosome

Question 18

Autosomal Recessive Disorders

Answer 18

• Must have two recessive genes for the disease to occurs (both parents contribute a gene
• 25% will be normal
• 50% will be carriers
• 25% of offspring will have the disease (eg. Cystic fibrosis)

Question 19

Autosomal Dominant Disorders

Answer 19

• Only need one dominant gene for the disease to occur – only one parent gene needed
• 50% of the offspring with the disease (eg. Huntington’s disease)
• 50% will be normal

Question 20

X Linked Disorders

Answer 20

• Disease is on the X chromosome
• Less common in women because they have another X that could prevent the recessive disease from occurring
• Males inherit these types of diseases from their mother; Don’t have a normal X to counteract
  Females become carriers; Inherit the abnormal X but also a normal X from the father
• Eg. Duchenne muscular dystrophy and hemophilia