Week 1: Intro To Pathophys & Genetic Disorders

Question 1

Physiology

Answer 1

Study of the functions of the body

Question 2

Pathology

Answer 2

Study of structural/functional changes; from pathos (suffering);

Question 3

Morphology

Answer 3

Fundamental structure/function of cell/tissue

Question 4

Histology

Answer 4

Study of cells and extra cellular matrix

Question 5

Lesion

Answer 5

Pathological abnormality in tissue which can be seen and sampled

Question 6

Pathophysiology

Answer 6

Changes that occur with injury/disease; from cellular to total body function

Question 7

Disease

Answer 7

an interruption, cessation or disorder of body system(s) or organ structure(s)
An atomic alterations are identified
Etiology agent(s) are often recognized

Question 8

Etiology

Answer 8

Describes how a disease process gets set into motion

The “cause” of the disease (as between smoking and lung cancer)

Question 9

Disorder

Answer 9

An abnormality of function that has not yet been classified as a “disease.”

Question 10

Pathogens is

Answer 10

Describes how a disease process evolves

The sequence of cellular/tissue/organ events that take place

Question 11

Clinical Manifestations

Answer 11

Evidence of the disease; related to the primary change or the body’s attempt at compensation
Signs - objective; local vs systemic
Symptoms - subjective; complaints
Syndrome - a compilation of signs and symptoms that are characteristic of a specific disease

Question 12

Diagnosis

Answer 12

Designation (naming) of the altered health issue
Requires H&P and review of findings
Assessment of the data provides for the differential diagnosis

Question 13

Clinical Course

Answer 13

Evolution of the disease or disorder
Acute, sub-acute, chronic
Complication
Prognosis
Natural history

Question 14

Epidemiology

Answer 14

Study of disease occurrence (tracking, transmission) in populations
Incidence - the number of new cases in the at risk population during a specific time period
Prevalence - a measure of all the existing disease cases at a point in time

Question 15

Morbidity

Answer 15

A diseased state (I.e., altered body system or organ structure/function)

Question 16

Mortality

Answer 16

State of being mortal…causing death

Question 17

Gene

Answer 17

Basic unit of heredity, codes for a protein

Question 18

Allele

Answer 18

A variant of a gene sequence - since cells have two copies of each chromosome (one inherited from mother and one from father) a person can be:
Heterozygous at any given gene locus (the two alleles are different)
Homozygous the two alleles are the same

Question 19

Dominant allele

Answer 19

An allele that is phenotypically expressed when present in either homozygous or heterozygous condition (I.e. the two alleles can be the same or different but express the same phenotype)

Question 20

Recessive allele

Answer 20

An allele that is phenotypically expressed only when present in the homozygous condition (I.e. the two alleles are the same)

Question 21

Phenotype

Answer 21

Outwardly apparent physical and biochemical attributes

Question 22

Genotype

Answer 22

Unique genetic makeup. Result of the 23 maternal and 23 paternal chromosomes uniting at conception

Question 23

Disease - seven contributing factors

Answer 23

1 - Genetic
2 - Social determinants (poverty, environment, education, employment, social status)
3 - Adverse childhood experiences
4 - Micro-organisms
5 - Trauma due to accidents, violence
6 - Environmental hazards: toxins/exposures
7 - Lifestyle factors and behaviors (diet, physical activity, sexual behavior, smoking, seat belts, bike helmets, sunscreen….)

Question 24

What are the three most prevalent diseases?

Answer 24

1 - Heart disease
2 - Cancer
3 - Chronic lower respiratory diseases

Question 25

Describe the relationship between homeostasis and allostasis.

Answer 25

Homeostasis - remaining stable, systems in balance, “set point” (body temp, pH)
Allostasis - Ability to successfully adapt to challenges/stress (nervous, endocrine, paracrine systems) re-establishes “homeostasis” or balance in response to stressors.

Question 26

Allostatic overload

Answer 26

“Cost” to body’s organs and tissues for an excessive or I effectively regulated allostatic response; effect of “wear and tear” on the body. Part of disease; cortisol, catecholamines, cytokines

Question 27

How does allostatic overload contribute to disease?

Answer 27

An example is cortisol release in response to stress. The hypothalamus is stimulated to produce corticotropin releasing hormone. CRH stimulates the anterior pituitary to produce ATCH (adrenocorticotropic hormone) which travels through the bloodstream to the adrenal glands which sit on top of the kidneys. When ACTH makes its way to the adrenal glands, it stimulates a specialized region on the outer shell of the adrenal gland, the cortex, to synthesize cortisol. The precursor to cortisol is cholesterol. When cortisol is secreted it induces diverse reactions in the body. Cortisol causes skeletal muscle to break down it’s proteins. It liberates amino acids from skeletal muscle which enter the blood stream and circulate to the liver. They enter into the liver and cause it to produce more glucose from those amino acids or gluconeogenesis (new glucose production from a non-carbohydrate source). It also impairs the ability of glucose to be taken up into the skeletal muscle because there are insulin dependent take up mechanisms. The glut4 transmitter is inhibited by cortisol and glucose can’t be taken up into the muscle and builds up in the plasma. This is a precursor to diabetes and can turn into full blown diabetes. Cortisol also goes to adipocytes and causes the fatty acid chains to start to get cleaved in a process called lipolysis. Those fatty acids also get released into the blood and get metabolized in the liver. Breaking down fat, breaking down proteins and glucose is being formed in the liver from these other precursors which again gets secreted into the blood. It also increases catecholamines which causes vasoconstriction. When cortisol goes up there is an inhibitory feedback loop to the hypothalamus and pituitary to stop producing it. This works only as long as the body is not in allostatic overload.

Question 28

Structure function inter-relationship

Answer 28

The structure of cells in your body affects its function. (I.e. the skull protects the brain) Function also affects structure - I.e. use it or lose it. (Muscles atrophy when not used, bones de-mineralize) which effects the structure. Pathophysiology is a mismatch between the two. Transcription factors determine the mRNA that get made. MiRNA’s can come and inhibit the ability of mRNA to make proteins.