Pathophysiology and Foundations of Disease

Vocabulary flashcards covering foundational disease processes, cell function, genetic disorders, stress adaptation, neoplasia, inflammation, and immunity.

Etiology

The study of disease causes.

Multifactorial Etiology

A characteristic of diseases that have no single cause and involve multiple contributing factors (e.g., Cancer, Diabetes).

Modifiable Risk Factors

Conditions that increase the likelihood of disease and can be altered (e.g., diet, exercise, smoking, blood pressure).

Non-Modifiable Risk Factors

Conditions that increase the likelihood of disease and cannot be changed (e.g., age, gender, family history).

Signs

Objective observations of disease manifestations (e.g., rapid breathing, wheezing).

Symptoms

Subjective reports of disease manifestations from the patient (e.g., "I feel short of breath").

Pathogenesis

The sequence of cellular and tissue events that take place from the time of initial contact with an etiologic agent until the ultimate expression of a disease.

Reliability

The extent to which a test observation, when repeated, gives the same result.

Validity

The extent to which a measurement tool measures what it is intended to measure.

Sensitivity (True Positive)

The ability of a test to return a positive result when the condition is present (e.g., a mammogram identifying breast cancer).

Specificity (True Negative)

The ability of a test to give a negative result when the condition is NOT present (e.g., a COVID test being negative when the virus is absent).

Incidence

The number of new cases arising in a population during a specific time.

Prevalence

An amount of total existing disease cases in a population at any point in time.

Natural History

The progression of a disease without medical intervention.

Primary Prevention

Health promotion and protection interventions (e.g., exercise, immunizations).

Secondary Prevention

Early detection and screening interventions (e.g., mammograms, Pap smears).

Tertiary Prevention

Rehabilitation and interventions aimed at preventing further complications (e.g., physical therapy).

Epigenetics

The study of how environmental factors (diet, toxins, stress) can "turn on" or "turn off" gene expression without changing the DNA sequence itself.

Stress

Anything that requires a response or adaptation from the organism; stressors can be positive (eustress) or negative (distress).

Ribosomes

Cellular organelles that serve as the sites of protein synthesis.

Mitochondria

The "powerhouse" of the cell that produces ATP.

DNA

Cellular molecule that carries instructions for protein synthesis and cellular replication.

Diffusion

Movement of particles from high to low concentration.

Osmosis

Movement of water across a semi-permeable membrane.

Active Transport

Membrane transport that needs energy (ATP) to move substances against a concentration gradient.

Membrane Potential

The difference in electrical charge across a membrane providing the potential for ion flow.

Epithelial Tissue

Tissue type that lines body surfaces and cavities.

Connective Tissue

Tissue type that supports and binds other tissues.

Nervous Tissue

Tissue type responsible for communication via electrical impulses (Neurons).

Muscle Tissue

Tissue type responsible for movement.

Skeletal Muscle

Voluntary muscle tissue.

Cardiac Muscle

Involuntary muscle tissue found in the heart.

Smooth Muscle

Involuntary muscle tissue controlled by the Autonomic Nervous System.

Afferent Nerves

Nerves traveling towards the Central Nervous System (CNS).

Efferent Nerves

Nerves traveling away from the Central Nervous System (CNS).

Atrophy

Decrease in cell size (e.g., from disuse or ischemia).

Ischemia

Decreased or blocked blood flow to an area, causing hypoxia (low levels of $O_2$).

Hypertrophy

Increase in cell size (e.g., from increased workload).

Hyperplasia

Increase in the number of cells.

Metaplasia

Replacement of one cell type with another (e.g., smoker's lungs).

Dysplasia

Deranged, disordered cell growth; often a precursor to cancer.

Left Ventricular Hypertrophy (LVH)

Irreversible hypertrophy occurring when the heart must pump against abnormally high pressure.

Apoptosis

Programmed, "clean" cell death.

Necrosis

Unplanned, pathological cell death resulting from injury.

Liquefaction Necrosis

A pattern of necrosis where cells turn into pus.

Coagulative Necrosis

A pattern of necrosis where cell shape is preserved (common in ischemia).

Caseous Necrosis

A pattern of necrosis characterized by a "cheesy" substance; specifically associated with Tuberculosis (TB).

Dry Gangrene

A form of gangrene where tissue becomes dry and shrinks.

Moist/Wet Gangrene

A rapid process resulting from infection where an area becomes swollen and black, causing a foul odor.

Gas Gangrene

A type of gangrene caused by Clostridium bacteria, characterized by the production of gas bubbles in the tissue.

Genotype

The actual genetic "spelling" or DNA sequence.

Phenotype

The physical expression or observable trait.

Allele

Different forms of a gene, where dominant alleles mask recessive ones.

Autosomes

The 22 pairs of chromosomes controlling non-sex traits.

Sex Chromosomes

The 1 pair of chromosomes determining sex (XX for female, XY for male).

Marfan Syndrome

An autosomal dominant connective tissue disorder characterized by a long thin body and spinal/chest deformities.

PKU (Phenylketonuria)

An autosomal recessive metabolic disorder characterized by toxic levels of phenylalanine that requires screening.

Tay-Sachs

An autosomal recessive disorder characterized by lipid accumulation in the CNS (chromosome 15) leading to motor/mental deterioration.

Hemophilia A

An X-linked recessive bleeding disorder/impaired clotting with a higher prevalence in males.

Fragile X

An X-linked recessive genetic disorder linked to intellectual disability.

Down Syndrome

A chromosomal disorder involving Trisomy 21 (3 copies of ch. 21), characterized by a small square head and a flatter face.

Turner Syndrome

A chromosomal disorder involving Monosomy X (absence of all/part of an X) that affects females.

Klinefelter Syndrome

A chromosomal disorder involving Polysomy (extra X in males, e.g., XXY) where the male phenotype remains.

Teratogens

Environmental agents that produce abnormalities during fetal development.

TORCH Acronym

Acronym for frequent infectious agents during pregnancy: Toxoplasmosis, Other, Rubella, Cytomegalovirus, Herpes.

Benign Neoplasm

A well-differentiated tumor (resembles parent cells) characterized by slow growth, encapsulation, and absence of metastasis.

Malignant Neoplasm

An undifferentiated tumor characterized by rapid growth, invasiveness, and metastasis via blood/lymph.

Anaplasia

The loss of cell differentiation; a hallmark of aggressive cancer where cells revert to a primitive, embryonic state.

Neoplasm

A new growth.

Tumor

The area of tissue growth.

Tumor Grading

Measures cancer aggressiveness based on the degree of anaplasia (Grades 1-4).

Tumor Staging

Measures the extent of cancer spread (Stage 1 is local; Stage 4 is distant metastasis).

TNM System

Cancer staging system evaluating T (Tumor size), N (Node involvement), and M (Metastasis).

Cachexia

Severe weight loss and wasting because cancer consumes all nutrients.

Alarm Stage (GAS)

The initial stage of Selye's General Adaptation Syndrome where the HPA axis is activated ("Fight or Flight").

Resistance Stage (GAS)

The second stage of Selye's General Adaptation Syndrome where the body attempts to adapt/cope with the stressor.

Exhaustion Stage (GAS)

The third stage of Selye's General Adaptation Syndrome where resources are depleted and hormone production fails, leading to illness.

Negative Feedback

Opposes/reverses the change to keep you in balance (like a home thermostat turning off the heat once the room reaches $70^\circ\text{F}$).

Positive Feedback

Multiplies/increases the change until a specific event stops it.

Adaptive Stress Response

A short-term, healthy reaction where the body mobilizes energy to overcome a challenge and then safely returns to homeostasis.

Maladaptive Stress Response

A chronic or unhelpful reaction where continuous high stress leads to bodily exhaustion, physical damage, and illness.

Cortisol

A primary HPA axis hormone that helps the body respond to stress and raises blood glucose.

Catecholamines

Primary stress hormones (Epinephrine/Norepinephrine) that increase heart rate and blood pressure.

Post-Traumatic Stress Disorder (PTSD)

A maladaptive response to stress characterized by Intrusion (flashbacks), Avoidance (emotional numbing), and Hyperarousal (exaggerated startle response).

Cardinal Signs of Inflammation

The five English manifestations of inflammation: Heat, Redness, Swelling (Edema), Pain, and Loss of Function.

Endothelium

The active inner lining of blood vessels.

Neutrophils

First responders to arrive at the site of inflammation.

Mast Cells

Cells that release Histamine, a potent vasodilator.

Leukocytosis

A total WBC count $> 10\,000$, indicating infection or inflammation.

Bandemia (Bands)

The presence of immature neutrophils in the blood, indicating a severe, active infection.

Granulomatous Inflammation

Inflammation characterized by giant cells used to encapsulate an invader; classic feature of Tuberculosis (TB).

Parenchyma

The functional tissue of an organ (e.g., alveoli in lungs).

Flu Virus

A pathogen that rapidly mutates its H and N antigens, requiring annual vaccines.

Community-Acquired Infection

An infection present $< 48\text{ hours}$ after hospital admission.

Hospital-Acquired (Nosocomial) Infection

An infection appearing $> 48\text{ hours}$ after hospital admission.

Broad-Spectrum Antimicrobials

Therapy that covers many types of organisms, used when the specific pathogen is unknown.

Narrow-Spectrum Antimicrobials

Therapy targeted specifically to a single organism.

Serous Exudate

Thin, watery/clear wound drainage.

Hemorrhagic Exudate

Bloody wound drainage resulting from vessel injury.

Purulent Exudate

Pus drainage containing dead WBCs and debris.