UTA Pathophysiology Exam 1- NURS 3366

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Homeostasis

maintenance of constant conditions in the body's internal environment

Compensation

the return to homeostasis after being challenged by a stressor

How is compensation achieved?

by the body's use of control mechanisms, also called compensatory mechanisms

Compensatory mechanisms examples?

when exposed to an elevated external temperature (Texas summer) or heavy exercise -> body temperature rises -> the hypothalamus senses the elevated core temperature and sends a signal to the skin to produce sweat -> heat loss occurs through evaporation. Dilation of the superficial blood vessels also occurs -> as "heated blood" circulates from the core to the periphery -> heat loss occurs through radiation (heat removed from body into surrounding air).

you've lost a lot of blood (massive bleeding) or water (dehydration), the body uses certain compensatory techniques to keep the remaining fluid volume circulating as effectively as possible (temporary measures until the cause of the problem gets fixed) -> heart rate would increase and arteries in your peripheral would constrict, shunting whatever blood volume is left to the central areas

Decompensation

if the body is unable to appropriately meet the challenge of stressors, the failure to compensate, heal, adapt

Disease (dz)

harmful condition of the body (and/or mind)

Disorder

disturbance in the healthiness of the body

Syndrome

collection of symptoms

Etiology

the cause of a disease; includes all factors that contribute to development of dz

Idiopathic

disease with an unidentifiable cause

Iatrogenic

occurs as result of medical treatment; ex—if kidney failure is due to improper use of antibiotics prescribed by a healthcare provider

Nosocomial

result as consequence of being in hospital environment; ex- they come in for a different issue, but due to improper sanitation or use they develop something else (due to a hospital issue!)

Clinical manifestations

the demonstration of a sign and/or symptom of a disease

Signs

manifestations that can be objectively identified by a trained observer

Symptoms

subjective manifestations such as pain or weakness

Phenotype

think of signs and symptoms, "has the phenotype" means "has the disease", which means "has the S&S"

Local S&S

Redness, swelling, heat, rash, & lymphadenopathy (disease of lymph nodes) in a particular area

Systemic S&S

fever, urticaria (hives), malaise ("I feel dragged out" or "awful all over"), systemic lymphadenopathy

Urticaria

hives

Malaise

a vague feeling of physical discomfort or uneasiness

how does acute S&S manifest?

rapid appearance of S&S, usually only lasts a short time, can also mean an increase in severity

how does chronic S&S manifest?

develop more slowly; S&S are often insidious (gradual) and

last longer and/or wax and wane over months or years.

Remissions

periods when S&S disappear or diminish significantly (wane)

Exacerbations

periods when S&S become worse or more severe

Peripheral or periphery

refers to problem, situation, etc, that is occurring

towards the outer parts of the body, away from core

Central

the body's core, brain and spinal cord, heart, etc.

Shock

low blood perfusion to the cells= inadequate oxygen to the cell. Results in abnormal cell function. S&S may include a low blood pressure and/or confusion from not getting enough blood/O2 to the brain. Sign is cool, pale extremities

Distal

father from the center of the body (can also mean DOWNSTREAM)

Proximal

closer to the center of the body

Prognosis

a prediction of the course of a disease

What affects the prognosis?

the usual course of a disease, and individual's characteristics such as age and comorbidities

Comorbidity

two or more coexisting medical conditions; this increases chance of poor prognosis

Sequela

aftermath of a disease. Synonym= complications. Can be used as "outcome" as well, but typically has a negative connotation

Sequela of rheumatic fever

bad heart valve

Sequela of chicken pox

scars/shingles

Sequela of stroke

hemiparesis (weakness or the inability to move on one side of the body)

·Precipitating factor

a specific event or trigger to the onset of the current problem

·Physiologic

normal function of the body

·Pathologic

pertaining to disease

RNA

assembles the amino acids into functional protein by the process of translation

Gene

a segment of the DNA molecule that is composed of an ordered sequence of nucleotide bases (adenine, guanine, cytosine, thymine)

Main functions of genes:

coding for synthesis of proteins that influence all aspects of our traits and functional characteristics

What happens when a gene mutates?

protein it is responsible for often malfunctions (ex-lactose intolerance)

DNA

hereditary material, nearly every cell in a person's body has the same DNA, most DNA located in nucleus but some in mitochondria

Chromosome

a sequence of nucleotide bases forms a gene; genes make up a DNA molecule, and that DNA molecule forms into a specialized shape called a chromosome

A chromosome can be thought of (very simplistically) as a string of multi-purpose beads, with the beads being genes.

How many chromosomes do we have?

23 chromosomes from each parent, so you end up with 23 pairs, or a total of 46

What are the types of chromosomes?

22 pairs are autosomal, they make up our hair color, eye color, etc. (#1-22)

1 pair is the sex chromosomes- XX or XY (the last pair, #23)

Karyotype

a display of the chromosome pairs of a cell arranged by size and shape

Alleles

partner genes have the same location on each respective chromosome, code for the same trait, and are called

Genotypes

combination of alleles that are inherited

uppercase (G) letter is dominant, lowercase (g) is recessive

GG

homozygous dominant

gg

homozygous recessive

Gg

heterozygous

Genetic disorders

a disease caused by abnormalities in an individual's genetic material

ways to categorize: inherited, spontaneous, mitochondrial DNA, multifactorial, chromosomal, single-gene

Inherited genetic disorders example

sickle cell disease is caused by an inherited, altered (AKA, "mutated") gene

Spontaneous genetic disorder example

free radicals form as a result of aging -> causes damage to the DNA -> protein synthesis is altered leading to gene mutations -> an "oncogene" develops which causes rapid, wild proliferation of cell growth -> cancer may develop

Mitochondrial DNA disorders

small amount of DNA found in mitochondria, very UNCOMMON

Multifactorial genetic disorders

combination of environmental triggers and variations/mutations of genes, plus sometimes inherited tendencies

Examples of multifactorial genetic disorders

lung cancer, hypertension, coronary artery disease & diabetes mellitus

Teratogenic disorders

a teratogen is any influence — eg, drugs, radiation, viruses-- that can cause congenital defects (ex, Fetal Alcohol Syndrome)

Congenital defects

abnormalities that are either detectable at birth and/or can be attributed to fetal development "glitches."

S&S of Fetal Alcohol Syndrome

flat midface, short nose, thin upper lip, indistinct philtrum, epicanthal folds, etc.

What are "thalidomide babies"?

born with abnormal arms and legs due to mothers taking the drug thalidomide (used for morning sickness) during early pregnancy

Chromosomal disorders

alterations to the development or structure of a chromosome-> alters the gene's functionality and protein-coding, giving rise to the phenotype of these disorders

Down's syndrome

trisomy 21, extra chromosome 21 (has 3 instead of 2), associated with pregnancies of women >35

Phenotype of Down's Syndrome

mental retardation, low-set ears, epicanthic fold to the eyes, short limbs, and a larger-than-normal tongue

Polysomy

more chromosomes than normal (ex, down's)

Philadelphia chromosome

type of alteration to the structure of the chromosome,

Single-gene disorders

due to inherited mutated gene, types include autosomal dominant, autosomal recessive, and sex-linked

Autosomal Recessive disorders

diseased gene on one of the #1-22 chromosomes, occurs when a mutated recessive gene is partnered with an allele that is also recessive and diseased (ex- aa) (ex- Sickle Cell Anemia)

Autosomal Recessive Inheritance Pattern

EX- mom is a carrier(Aa), dad is a carrier (Aa)-- probability of their children is: 25% normal and not a carrier(AA), 50% carrier (Aa), 25% has the condition (aa)

Sickle Cell Anemia

-a hereditary autosomal recessive disorder

-homozygous genotype of the recessive sickle cell genes (aa)

-cause abnormally shaped RBCs, more easily damaged, causing less then normal RBC count (anemia), less oxygen getting to tissues

-because they are deformed, cannot hold as much oxygen, aka less oxygen getting to tissues

Phenotype (S&S) of Sickle Cell Anemia

-Shortness of breath, weakness and fatigue due to less O2 carried to tissue

-Ischemic pain, especially in joints, because deformed RBC's clog capillaries which starves distal tissues of O2.

Ischemia/Ischemic pain

cells are not getting enough oxygen due to a circulatory malfunction, the problem is called ischemia; pain in the tissue that is not getting enough oxygen is called ischemic pain

Autosomal Dominant disorders

diseased gene on one of the #1-22 chromosomes, occurs when a person inherits a mutated gene that is DOMINANT (uppercase) (ex- polycystic kidney disease (PKD)

Autosomal Dominant Inheritance Pattern

EX- dad is affected (Dd) and mom is not (dd)-- probability of their children is: 50% affected (Dd), 50% not affected (dd)

Polycystic Kidney Disease (PKD)

-a hereditary autosomal dominant disorder

-the mutation codes for abnormal kidney tissue

-causes kidney tissue to develop cysts, which can reduce various kidney functions and lead to kidney failure as a person goes through life (needing dialysis and eventually new kidneys)

S&S of PKD (Polycystic Kidney Disease)

-hematuria (blood in urine), proteinuria (protein in urine)

& frequent kidney infections

-pain at costovertebral angles and abdomen (area on your back where your kidney's sit)

-kidney stones

Recombinant DNA

a form of genetic engineering, altering DNA for medicine and science, results from purposefully combining two or more different sources of DNA

Recombinant DNA examples

-altering DNA codons in bacteria to make proteins the bacteria would not ordinarily produce

-COVID vaccine,

-human growth hormone for children lacking it.

-exogenous ("from outside the body") insulin for diabetics.

-factor VIII for hemophiliacs.

-drugs like tPA & tenectaplase—given as "clot-buster" in patients having a myocardial infarction (MI, aka heart attack).

ATP

(adenosine triphosphate) main energy source/fuel that cells use

Etiologies for cellular-level disruptions (that decrease ATP)

hypoxia, nutritional problems, chances in balance of electrolytes and acid/base balance, changes in fluid distribution

Hypoxia

decrease in amount of oxygen to cell or ability to use oxygen appropriately (LESS O2 IN THE CELL)

examples of the spectrum of etiology and seriousness of hypoxia

-overworked muscles using up immediate available oxygen

-difficulty breathing and cannot get enough O2 to the heart to circulate to the tissues

-artery in the arm is cut, so the tissues distal to the trauma cannot get O2

Sequelae of Hypoxia

cellular metabolism has to recycle through glycolysis (because it can operate under anaerobic conditions)

-POSITIVE side: 2 ATP per glucose to give energy, so it is a temporary stop-gap

-NEGATIVE side:

-2 ATP can't keep going for a long time; ex—without ATP, the Na+ / K+ pump of each cell cannot maintain normal electrical cell membrane status, and propagation of electrical impulses will be disrupted (the cell won't work very well)

-altered acid/base balance due to multiple pyruvates (pyruvic acid) accumulate (resulting in ACIDOSIS) pretty quickly, reliance on gluconeogenesis,

What is Hypoxemia?

low oxygen in the blood

Glycolysis

the breakdown of glucose by enzymes, releasing ATP and pyruvic acid, can operate under anaerobic conditions

What is the normal pH range of the body?

7.35-7.45 (slightly alkaline pH range of the blood)

Why is the sodium-potassium pump important?

-prevents sodium ions from accumulating in the cell which would be toxic

-helps maintain the concentration gradients of sodium ions and potassium across the membrane

-affects the RMP (resting membrane potential) that is normally negative

Normal and Regulatory Glucose Use: flow-chart

you eat -> glucose in the blood goes up -> state of temporary hyperglycemia -> triggers the pancreas to secrete insulin -> insulin circulates to cells and assists in getting glucose from the blood into the cells for fuel use

if intake of food is greater than cellular needs -> insulin directs excess glucose to be stored -> stored as glycogen in the liver (that process is called glycogenesis)

Glycogen

storage form of glucose in the liver

Glycogenesis

process of insulin storing glucose to glycogen in the liver

Hypoglycemia

low blood sugar

Counterregulatory hormones for hypoglycemia

-epinephrine (from the adrenal medulla)

-cortisol (from the adrenal cortex)

-growth hormone/GH (from the pituitary)

-glucagon (from the pancreas)

ROLES of the counterregulatory hormones for HYPOGLYCEMIA

-sensation of hunger, shakiness, sweating, irritability all telling you to eat

-if you don't eat, body's first backup plan is: glycogenolysis (processes of hormone glucagon turning stored glycogen into glucose)

Glucagon

hormone secreted by the pancreas that gets the stored glycogen from the liver and turns it back into glucose (this process is called glycogenolysis)

Glycogenolysis

-process where the counterregulatory hormone glucagon (from the pancreas) stimulates the conversion of stored glycogen back to glucose

-raises blood sugar

-normal, everyday process

Gluconeogenesis

-the breakdown and use of fats and proteins for cellular energy (ATP)

-happens when glucose is unavailable and glycogenolysis has already exhausted a person's store of glycogen

-one of the breakdown products of fats and proteins is ketones

Ketones

-breakdown product of fats and proteins

-"good" parts: offer body some energy, usually enough until glucose is available again

-"bad" parts: they are acids, overtime there is danger of acidosis; they can NOT be used by brain cells, brain cells NEED GLUCOSE for energy

Glycogen storage diseases

abnormalities in glycogenesis (creating/storing glycogen) OR glycogenolysis (breakdown of glycogen)

-EX: McArdle's disease