Pathophysiology Notes Designed for Quick Exam Prep

Pathophysiology Notes Designed for Quick Exam Prep Disease - Levels of prevention o Primary = prevent disease from occurring  Ex. Vaccinations o Secondary = early detection  Ex. Checkups or testing/screening (can be primary or secondary depending on situation) o Tertiary = prevent deterioration or complications  Ex. Medication once disease is diagnosed, rehabilitation - Clinical manifestations = evidence o Signs = objective and measurable  *not called vital symptoms* o Symptoms = subjective  Patient describing pain, even using PQRST can’t be measured - Risk factors or predisposing factors = contribute to disease o Non-modifiable = factors you cannot change or choose  Heredity/genetics. Directly cause or increase risk of disease  Age  Sex Etiology • Sex = biological (XX/XY) • Gender = identity  Ethnicity o Modifiable = factors that can be changed or chosen  Smoking  Alcohol or drug use  Activity level  Weight  Diet and nutrition  Environment  SDOH  Stress - Study of causes of disease - Intrinsic = something within the body (genetics, etc.) - Extrinsic = outside influences (infections, etc.) - Idiopathic = unknown pathology - Iatrogenic = related to healthcare - Syndrome = collection of manifestations that happen together Processes of Disease - Multifactorial o diseases caused by a number of genes acting together and influenced by other factors  Genetics + inflammation or immune response or infection etc.  Schizophrenia, bi-polar affective disorder, cardiovascular diseases, cancers, diabetes mellitus - Obstruction o Can occur anywhere there is a ‘tube’ o Mechanical  Physical blockage (ex. blood clot, tumor, kidney stone) o Functional - Genetics  Lack of function, is paralyzed (GI paralysis)  Leads to same outcomes, but is harder to detect  Rarer than mechanical o Mutation  Inherited alteration of genetic material  Radiation and other chemicals are mutagens  Base pair substitution = one base pair is switched for another  Frameshift mutation = addition or deletion of one base pair o Aneuploidy  Abnormal number of chromosomes due to non-disjunction • Improper splitting of chromosomes in meiosis, leading to gametes with either two chromosomes or none, leading to offspring with either one or three after fertilization  Monosomy = single chromosome • Turner Syndrome (X) o Women who are shorter than normal, webbed fingers and toes, far apart nipples, malformation in aorta, normal intelligence • Single Y chromosomes cannot survive on their own, making Turner Syndrome the only monosomy  Trisomy = three chromosomes • Klinefelter Syndrome (XXY) o Male who are taller than normal, but have feminine characteristics due to XX such as reduced facial hair, fat distribution along hips and breast growth • Down Syndrome (trisomy 21) o Discovered 1866 o Three copies of chromosome 21 o Extra eyefold, lower ears, large tongue, varying levels of IQ impairment, cardiac structural abnormalities are likely, o Maternal age is a major risk factor, likelihood of occurrence spikes after mother turns 35 • Triple X syndrome (women with XXX not XX) • XYY syndrome • Trisomy 13 • Trisomy 28 o Single gene disorders  Caused by single gene that is defective or mutated  Autosomal recessive • Must have two recessive genes for disease to occur or else normal gene will compensate and/or take over o Ex. cystic fibrosis o Both parents contribute a copy of the gene, 25% of offspring will be normal, 50% will be carriers (have gene but not disease), 25% will have disease  Autosomal dominant • Only need one dominant gene for disease to occur, other gene will not be able to compensate o Ex. Huntington’s disease  Incurable neurological disease, causing death early on in life o One parent has gene, 50% of offspring will be normal, 50% will have the disease, there will be no carriers  X-linked • Disease is tied to X chromosome • Females become carriers, males inherit disease from mother o The XX has a second chromosome to compensate, making women carriers o The XY cannot compensate for abnormal X meaning men will inherit the disease • Ex. hemophilia, Duchenne muscular dystrophy - Inappropriate inflammatory or immune response - Infection - Inappropriate cellular environment or growth o Acid/base, fluids, electrolytes, neurotransmitters Cellular Injury - Cell death can lead to tissue death and organ death if serious enough, or it can be on purpose or reversible o Reversible cell injury and recovery with return to normal function o Apoptosis and programmed cell removal  Planned and predictable cell death o Necrosis  Trigger inflammation upon cell death  Ex. gangrene - Mechanisms