Patho Exam 1

pathophysiology

pathophysiology

study of abnormalities in physiologic functioning of living beings

etiology

causes or reasons of disease

pathogenesis

development or evolution of disease, from initial stimulus to ultimate expression of manifestations of the disease

clinical manifestations

signs, symptoms, stages, and course

idiopathic

cause is unknown

iatrogenic

cause results from unintended or unwanted medical treatment

sign

objective or observed manifestation of disease obtained by: clinical examination, laboratory tests, diagnostic imaging

symptom

subjective feeling of abnormality in the body

risk factor

factor that when present increases the likelihood of disease

Latent stage

time between exposure of tissue to injurious agent and first appearance of signs and/or symptoms

can also refer to period during an illness when signs/symptoms temporarily become mild or silent or disappear

subclinical stage

patient functions normally; disease processes are well established

prodromal stage

time during which first signs and/or symptoms appear indicating onset of disease. Often nonspecific

acute stage

disease/illness reaches its full intensity, short lived, may have severe manifestation

chronic stage

may last months to years, sometimes following an acute course

convalescence

stage of recovery after a disease, injury, or surgical procedure

sequela

subsequent pathologic condition resulting from an illness

exacerbation

sudden increase in severity of disease or signs or symptoms

remission

decrease in severity, signs, or symptoms; may indicate disease is cured

test sensitivity

probability that a test will be positive when applied to a person with a particular condition; failures are false negatives

test specificity

probability that a test will be negative when applied to a person without a particular condition; failures are false positive

validity

degree to which a measurement reflects the true value of what it intends to measure

reliability

test’s ability to give the same results in repeated measurements

predictive value

extent to which a test can differentiate between presence or absence of a person’s condition

negative value = probability disease is absent if test is negative

positive value = probability disease is present if test is positive

endemic disease

native to a local region

epidemic disease

spread to many people at the same time

pandemic disease

spread to large geographic areas

primary prevention

altering susceptibility or reducing exposure for susceptible persons

secondary prevention

early detection, screening, and management of disease

tertiary prevention

rehabilitation, supportive care, reducing disability, and restoring effective functioning

reversible

is withstand response reversible or irreversible

reversible

is adapt response reversible or irreversible

irreversible

is cell death response reversible or irreversible

reversible cell injury

hydropic swelling and accumulation of substances in cells

hydropic swelling

cellular swelling because of accumulation of water; first manifestation of most forms of reversible cell injury

Accumulation of substances in cells

o   Leads to injury due to toxicity, immune response, and taking up cellular space needed for cellular function

o   Caused by abnormal metabolism, defect in folding and/or transport of proteins to the outside, lack of enzyme to break substance down, ingestion of indigestible materials

atrophy, hypertrophy, hyperplasia, metaplasia, dysplasia

5 cellular adaptation mechanisms

atrophy

Cells shrink and reduce their differentiation functions in response to normal and injurious factors in an effort to minimize energy consumption

hypertrophy

Increase in cell mass accompanied by an augmented functional capacity in response to physiologic and pathophysiologic demands, usually due to increased cellular protein content

hyperplasia

Increase in functional capacity related to an increase in cell number because of mitotic division, usually in response to increased physiologic demands or hormonal stimulation

only occur in cells capable of mitotic division

metaplasia

conversion of one cell type to another, usually due to adaptation to persistent injury

dysplasia

disorderly growth

disorganized appearance of cells because of abnormal variations in size, shape, and arrangement

irreversible cell injuries

necrosis and apoptosis

necrosis

cell rupture, spilling of contents into extracellular fluid, inflammation

Apoptosis

occurs from injury that does not directly kill the cell but triggers

coagulative, liquefactive, fat necrosis, caseous necrosis, gangrene

5 types of necrosis

coagulative necrosis

most common type of necrosis

process that begins with ischemia, affected area is composed of degenerated proteins and relatively solid

liquefactive necrosis

Rapid dissolution of dead cells by lysosomal enzymes, forms abscess or cyst from dead tissue

fat necrosis

death of adipose tissue, usually due to trauma or pancreatitis; appears as a chalky white area of tissue

caseous necrosis

characteristic of lung damage due to tuberculosis, resembles clumpy cheese

gangrene

cellular death in a large area of tissue, resulting from interruption of blood supply to a particular part of the body

dry gangrene

form of coagulative necrosis

characterized by blackened, dry, wrinkled, tissue separated by a line of demarcation from healthy tissue

wet gangrene

form of liquefactive necrosis typically found in internal organs, can be fatal

gas gangrene

results from infection of necrotic tissue by anaerobic bacteria like clostridium

characterized by formation of gas bubbles in damaged muscle tissue – can be fatal

Apoptosis

occurs from injury that does not directly kill the cell but triggers “suicide,” no rupture, no inflammation, neighboring cells ingest

externally triggered apoptosis

removal of survival signals

internally triggered apoptosis

DNA damage beyond repair

Mitochondrial damage

high levels of p53 protein

Cellular basis of aging

Cell death exceeds cell replacement due to progressive decline in proliferation and reparative capacity of cells and exposure to environmental factors

ischemia and hypoxic injury

combination of disruption of oxygen supply with accumulation of metabolic waste

ischemia

most common cause of cell injury and injures cell faster than hypoxia alone

Nutritional injury

deficiency of fats, carbs, proteins, vitamins, or minerals needed for normal cellular function

Infectious and Immunologic injury

o   Bacteria release exotoxins, endotoxins, or trigger body’s immune response

o   Viruses replicate inside cells and cause cell injury, some viruses can make immune system kill the cell (Hepatitis B)

Chemical injury

toxic chemicals, poisons, or pollutants either directly injure cell or become metabolized into reactive chemicals by the body

physical and mechanical injury

extremes in temperature, abrupt changes in atmospheric pressure, mechanical deformation, electricity, ionizing radiation

chromosomal abnormalities

abnormal number of chromosome or alterations to structure of one or more chromosomes usually from errors of separation during meiosis

mendelian single gene disorders

result from alterations or mutations of single genes; majority are inherited from parents

non-mendelian single gene disorders

disorders in 3 categories: long triplet repeat mutations, mitochondrial DNA mutations, gnomic imprinting

polygenic and multifactorial disorders

traits that develop in response to more than one gene; do not follow clear mode but tend to run in families

autosomal aneuploidy

what are down syndrome, edwards syndrome and patau syndrome an example of

aneuploidy and abnormal structure

categories of chromosomal abnormalities

sex chromosome aneuploidy

what are klinefelter syndrome and turner syndrome an example of

deletion, translocation, duplication, and inversion

4 types of abnormal chromosome structures

deletion

cry du chat syndrome is an example of what

autosomal dominant, autosomal recessive, and sex-linked

3 types of mendelian single gene disorders

autosomal dominant

what are marfan syndrome and huntington disease an example of

autosomal recessive

what are albinism, phenylketonuria, and cystic fibrosis an example of

non-mendelian gene disorder

what is fragile X syndrome (FMR1) gene an example of

teratogens

factors/agents that cause congenital malformations

before third week

exposure either damages very few cells or so many that embryo can’t survive

3-9 weeks

embryo very susceptible to teratogenesis, especially during organ development (4th and 5th week)

after third month

affect growth or injury to already formed organs

bengin

o   Does not have potential to kill host (may be life-threatening due to location)

o   Does not invade adjacent tissue or spread to distant sites

o   Many are encapsulated

o   More closely resembles original tissue type

o   Grows more slowly

o   Little vascularity

o   Rarely necrotic

o   Often retains original function

malignant

o   Can kill host if untreated

o   Invades other tissues and spreads

o   Tissue-specific differentiation

o   Little resemblance to original tissue

o   Grows rapidly

o   May initiate tumor blood vessel growth (angiogenesis)

o   Frequently necrotic

o   Dysfunctional

adenoma

benign - epithelial origin

carcinoma

malignant - epithelial cells

sarcoma

malignant - connective tissue

leukemia

malignant - wbc

malignant

lymphoma

malignant

hepatoma

malignant

melanoma

benign

most -omas

malignant

-sarcoma

-carcinoma

tumor suppressor genes

loss of function genes; mutation causes underactivity of gene

tumor supressor genes

• Rb Gene

• P53 Gene

  • BRCA1 and BRCA2 Genes

proto-oncogenes

gain-of function genes; mutation causes overactivity of gene

growth factors (mitogens)

small cell-manufactured peptides secreted into extracellular space. They interact with receptors on target cell surface activating a signaling cascade that can produced excessive self-stimulated growth

growth factor receptors

mutations cause excessive responsiveness by expressions of receptors that should not be there at all, excessive amounts of normally present receptors, and receptors with abnormally high affinity

growth factor receptors

HER-2 is example of what

cytoplasmic signaling molecules

making of excessive or abnormal components of intracellular signaling pathways; mutant proto-oncogenes can activate pathway even when no signal is received at cell surface

transcription factors

proteins that must be assembled at the promoter area of genes begin gene transcription; mutation may cause overproduction of transcription factors or interfere with normal function of keeping them in check

growth factors

growth factor receptors

cytoplasmic signaling molecules

transcription factors

4 types of proto-oncogenes