Class 1 - Introduction and Genetics Flashcards
Pathophysiology Definition
The study of the underlying changes in body physiology (molecular, cellular, and organ systems) that result from disease or injury
Disease Definition
An acute or chronic illness that one acquires or is born with that causes physiological dysfunction
Illness Definition
A person’s experience of a disease
Epidemiology Definition
The study of patterns of disease in large groups of people
Incidence vs. Prevalence
Incidence is the number of new cases during a specific time
Prevalence is the existing disease at any given time
Levels of Prevention
Primary: prevents disease from occurring
Secondary: early detection
Tertiary: prevents deterioration/complications
Clinical Manifestations (Signs and Symptoms)
Signs: objective and measurable
Symptoms: subjective
Non-modifiable Risk Factors
- Heredity/genetics
- Age
- Sex
- Ethnicity
Modifiable Risk Factors
- Smoking
- Alcohol and drug use
- Level of activity / immobility
- Body weight
- Diet / nutrition
- Environment
- Social determinants of health
- Stress
Etiology Definition
The study of the causes of disease
- intrinsic: genetics, immune system, cell structures
- extrinsic: bacteria, trauma, exposure to chemicals, hot and cold
- idiopathic: unknown
- iatrogenic: related to healthcare “nosocomial”
Multifactorial: Etiological Processes of Disease
- Diseases caused by a number of genes acting together and influenced by other factors
eg. genetics and inflammation, immune, infection, cardiovascular disease, cancer etc
Obstruction: Etiological Processes of Disease
- can occur anywhere there is a tube
1. mechanical: something structural or physical is blocking (kidney stone)
2. functional: paralysis of the tube
Mutation
- 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
Aneuploidy
- 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
Turner Syndrome
- Single X chromosome
- 45 total chromosome
- Genetically female
- Shorter, wider apart nipples, cardiovascular structural abnormalities, intellect is normal
Klinefelter Syndrome
- XXY
- Genetically male, but with feminine characteristics
- Taller, reduced facial hair, reduced body hair, breast development, feminine fat distribution, osteoporosis and small testes
Trisomy 21 - Down Syndrome
- 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
Autosomal Recessive Disorders
- 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)
Autosomal Dominant Disorders
- 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
X Linked Disorders
- 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
