Exam 1 Flashcards
Autophagy
A type of cellular housekeeping in which a cell digests itself.
Free radical
An atom with an unpaired electron. Uncharged. Unstable because it lost or gained an electron. Cause DNA damage and mutations; protein fragmentation and misfolding. Antioxidants protect against
Apoptosis
Programmed cell death. Involved dismantling of cell components and packaging the remainders in vesicles called apoptotic bodies, which are removed by phagocytosis.
Cell shrinks when cytoskeleton is dismantled, and sections of the cell bud off into vesicles.
Does NOT cause inflammation.
Hyperplasia
Adaptive increase in cell number. Usually occurs with hypertrophy.
Ex: thickening of uterine lining after ovulation d/t increased estrogen, regeneration of liver after surgical removal of damaged portion.
Pathological: endometrial hyperplasia
Hypertrophy
Increase in cell size.
Ex: weight lifter, why one leg is bigger than other for roller derby girl, excessive hormonal stimulation for several weeks.
Pathologic: hypertrophy as a result of HTN
Atrophy
Decrease in cell size.
Ex: thymus glad decrease in size during childhood, left calf smaller after cast removal, lack of hormonal stimulation for several weeks.
Dysplasia
Abnormal change in size, shape, and organization of mature tissue cells.
Aka atypical hyperplasia
Mutation
Alteration of DNA capable of being passed to offspring.
Missense mutation
Nonsense mutation
Frameshift mutation
Mutagen
Substance that alters genetic material (DNA)
GENE
Segment of DNA that is the basic unit of inheritance
Chromosome
Strand of condensed chromatin visible right before cell division. A somatic cell has 23 pairs of chromosomes. 1 sex chromosomes and 22 nonsectarian chromosomes (autosomes)
Autosome
Chromosome that is not a sex chromosome. 1 pair of sex chromosomes and 22 pairs of autosomes.
Allele
Different version of a paired gene at a given locus.
If 2 alleles are found together, the allele that is observable is the dominant, and the one whose effects are hidden is recessive.
Dominant allele: capital letter
Recessive: lowercase letter
Can be codominant
Ex: Hgb A vs Hgb S
Frameshift Mutation
A DNA mutation that involves an addition or deletion of a number of base pairs that is not a multiple of three, and thus alters all of the codons downstream from the site of insertion or deletion.
Translocation
Interchanging of genetic material between nonhomologous chromosome. One chromosome breaks and becomes part of another chromosome.
Type of chromosomal aberration/ alteration.
Ex: Philadelphia chromosomal translocation. Increased chances of CML and ALL.
Cellular function
Cells become specialized through the process of differentiation, or maturation.
The eight specialized cellular functions are movement, conductivity, metabolic absorption, secretion, excretion, respiration, reproduction, and communication
Eukaryotic cell
Consists of three general components: the plasma membrane, the cytoplasm, and the intracellular organelles
Nucleus
Largest membrane-bound organelle and is usually found in the cell’s center. The chief functions of the nucleus are cell division and control of genetic information. “Protects DNA”
Cytoplasm
Or cytoplasmic matrix, is an aqueous solutions that fills space between the nucleus and plasma membrane. The organelles are suspended in the cytoplasm and are enclosed in biologic membranes.
Endoplasmic reticulum
A network of tubular channels that extend throughout the outer nuclear membrane. It specializes in the synthesis and transport of protein and lipid components of most of the organelles.
The golgi complex
Network of smooth membranes and vesicles located near the nucleus. It is responsible for processing and packaging proteins into secretory vesicles that break away from the golgi complex and migrate to a variety of intracellular and extracellular destinations, including the plasma membrane.
Lysosomes
Sac like structures that originate from the golgi complex and contain digestive enzymes. These enzymes are responsible for digesting most cellular substances down to their basic form, such as amino acids, fatty acids and sugars. Cellular injury leads to a release of lysosomal enzymes, causing cellular self-digestion. “Garbage disposal”
Peroxisomes
Similar to lysosomes, but contain several enzymes that either produce or use hydrogen peroxide
Mitochondria
Powerhouse of cell. Cellular energy metabolism. Generates ATP. Carries mRNA from the nucleus to the ribosomal sites for protein synthesis
Ribosomes
Take code & transcribe it “DNA synthesis”
Cell communication
They form protein channels (gap junctions).
They display receptors that affect intracellular processes or other cells in direct physical contact.
They secrete signals for long-distance communication.
Primary modes of chemical signaling include: hormonal, neurohormonal, paracrine, autocrine, and neurotransmitter.
Signal transduction involves signals or instructions from extracellular chemical messengers that are conveyed to the cell’s interior for execution
Cellular metabolism
The chemical tasks of maintaining essential cellular functions are referred to as cellular metabolism. Anabolism is the energy-using process of metabolism, whereas catabolism is the energy-releasing process.
Diffusion
is the passive movement of a solute from an area of higher solute concentration to an area of lower solute concentration.
Hydrostatic pressure
The mechanical force of water pushing against cellular membranes
Osmosis
The movement of water across a semipermeable membrane from a region of lower solute concentration to a region of higher solute concentration
Passive transport
Water and small electrically uncharged molecules move through pores in the plasma membrane’s lipid bilayer
Osmotic pressure
The amount of hydrostatic pressure required to oppse the osmotic movement of water
Oncotic pressure
The overall osmotic effect of colloids, such as plasma proteins
Mediated transport
Can be passive or active. Includes the movement of two molecules simultaneously in one direction or in opposite directions or the movement of a single molecule in one direction
Passive transport “ facilitated diffusion”
Does not require metabolic energy.
Active transport
Requires metabolic energy to move molecules against concentration gradient. Also occurs by endocytosis or vesicle formation
Phagocytosis
Type of endocytosis in which large particles, such as bacteria are ingested through the formation of large vesicles called vacuoles.
4 phases of cell cycle
The S phase, during which DNA synthesis takes place in the cell nucleus
The G2 phase, the period between the completion of DNA synthesis and the next phase (M)
The M phase, which involves both nuclear (mitotic) and cytoplasmic (cytokinetic) division
The G1 phase (growth phase, or interphase), after which the cycle begins again
M phase “Mitosis”
Involves four stages: prophase, metaphase, anaphase and telophase.
Epithelial tissue
Covers most internal & external surfaces of the body. Function is to protect, absorb, secrete and excrete
Connective Tissue
Binds various tissues and organs together supporting them in their locations and serving as storage sites for excess nutrients
Muscle tissue
Composed of long, thin, highly contractile cells or fibers called myocytes. Muscle tissue that attaches to bones enables voluntary movement. Muscle tissues in internal organs enable involuntary movement (heartbeat)
Neural tissue
Composed of highly specialized cells called neurons that receive and transmit electric impulses very rapidly across junctions called synapses
Cellular adaptation
An alteration that enables the cell to maintain a steady state despite adverse conditions
Metaplasia
“REVERSIBLE” replacement of one mature cell type by another less mature cell type.
Cellular swelling
The accumulation of excessive water in the cell. Caused by the failure to transport mechanisms and is a sign of many types of cellular injury.
Necrosis
is the sum of the changes after local cell death and includes the processes of inflammation and cellular lysis; irreversible cell
injury
Translation
is the process by which RNA directs the synthesis of polypeptides
Transcription
is the process by which DNA specifies a sequence of messenger RNA (mRNA).
Incidence rate
is the number of new cases of a disease reported during a specific period (typically one year) divided by the number of individuals in the population
Prevalence rate
is the proportion of the population affected by a disease at a specific point in time.
Genotype
Genetic makeup of an organism “what they have”
Phenotype
The observable, detectable, or outward appearance of the genetics of an organism “What they demonstrate”
Autosomal dominant
Condition is expressed equally in males and females.
Approximately half the children of an affected heterozygous individual will express the condition.
Homozygous affected individuals are rare and there is no generational skipping. the abnormal allele is dominant, the normal allele is recessive,
Autosomal recessive
Males and females are affected in equal proportions.
Consanguinity is sometimes present.
The disease is seen in siblings but usually not in their parents.
On the average, one-fourth of the offspring of carrier parents will be affected.
X-linked disorders
The trait is seen much more often in males than in females because females must inherit two copies of the recessive allele (one from each parent) to express the disease, while males need only inherit one copy (from their mother) to express the disease.
Because a father can give a son only a Y chromosome, the trait is never transmitted from father to son.
The gene can be transmitted through a series of carrier females, causing the appearance of a “skipped generation.”
The gene is passed from an affected father to all his daughters, who, as phenotypically normal carriers, transmit it to approximately half their sons, who are affected
Turner syndrome – only females. Instead of 2 only have one X-chromosome.
Usually sterile, intellectual abilities can be affected, short stature.
Renin-angiotensin-aldosterone system (RAAS)
a hormone system that regulates blood pressure, fluid, and electrolyte balance, and systemic vascular resistance Renin: An enzyme released by the kidneys into the bloodstream when blood pressure drops. Angiotensin II: A hormone that constricts the muscular walls of small arteries, triggers the release of aldosterone, and triggers the release of vasopressin Aldosterone: A hormone that adds more water to the blood to help increase blood volume and blood pressure
Steps in RAAS
When your blood pressure falls, your kidneys release the enzyme renin into your bloodstream.
Renin splits angiotensinogen, a protein your liver makes and releases, into pieces. One piece is the hormone angiotensin I.
Angiotensin I, which is inactive (doesn’t cause any effects), flows through your bloodstream and is split into pieces by angiotensin-converting enzyme (ACE) in your lungs and kidneys. One of those pieces is angiotensin II, an active hormone.
Angiotensin II causes the muscular walls of small arteries (arterioles) to constrict (narrow), which increases blood pressure. Angiotensin II also triggers your adrenal glands to release aldosterone and your pituitary gland to release antidiuretic hormone (ADH, or vasopressin).
Together, aldosterone and ADH cause your kidneys to retain sodium. Aldosterone also causes your kidneys to release (excrete) potassium through your urine.
The increase in sodium in your bloodstream causes water retention. This increases blood volume and blood pressure, thus completing the renin-angiotensin-aldosterone system.
Edema
is a problem of fluid distribution that results in accumulation of fluid within the interstitial spaces. Edema is caused by arterial dilation, venous or lymphatic obstruction, loss of plasma proteins, increased capillary permeability, and increased vascular volume. The pathophysiologic process that leads to edema is related to an increase in forces favoring fluid filtration from the capillaries or lymphatic channels into the tissues
Potassium
Potassium is the predominant ICF ion; it functions to regulate ICF osmolality, maintain the resting membrane potential, and deposit glycogen in liver and skeletal muscle cells. Potassium balance is regulated by the kidneys by aldosterone and insulin secretion and by changes in pH. A mechanism known as potassium adaptation allows the body to accommodate slowly to increased levels of potassium intake. Maintenance of normal cardiac rhythms, and skeletal and smooth muscle contraction. Think heart — cardiac functioning
Calcium
Calcium is a necessary ion in the structure of bones and teeth, in blood clotting, in hormone secretion and the function of cell receptors, and in membrane stability. Phosphate acts as a buffer in acid-base regulation and provides energy for muscle contraction. Calcium and phosphate concentrations are rigidly controlled by parathyroid hormone (PTH), vitamin D, and calcitonin.
Magnesium
Magnesium is a major intracellular cation and is principally regulated by PTH. Magnesium functions in enzymatic reactions and often interacts with calcium at the cellular level. Cofactor in intracellular
enzymatic reactions, protein synthesis, and
neuromuscular excitability. Improves myocardial
metabolism Reduces peripheral
vascular resistance (B/P) Inhibits platelet function
Metabolic alkalosis
Occurs with increase in bicarbonate caused by loss of metabolic acids, “vomiting”
Compensatory response (kidneys in trouble – lungs try
to help) is ↑ CO2 retention by lungs
Respiratory acidosis
Occurs with a decrease of alveolar ventilation and increase CO2. hypoventilation, Drug Overdose; COPD Compensatory response (lungs in trouble – kidneys try to help) is ↑ bicarbonate (HCO3−) retention by
kidney,
Respiratory alkalosis
Occurs with alveolar hyperventilation and excessive reduction of CO2 Compensatory
response (lungs in
trouble – kidneys try to
help) is ↑ HCO3−
excretion by kidney
Hypoxia
the lack of sufficient oxygen
within cells, is the single most common cause
of cellular injury
Ethanol
Liver enzymes metabolize ethanol to
acetaldehyde (TOXIC) which causes hepatic cellular
dysfunction. Decreases absorption of nutrients in
the intestines
Radiation
Ionizing radiation (IR) is any form of
radiation capable of removing orbital electrons
from atoms producing free radicals. The most
vulnerable to radiation damage: Deoxyribonucleic
acid (DNA)
Free radicals involved in many disorders and
diseases. Cause DNA damage and mutations;
protein fragmentation and misfolding.
Antioxidants protect against damaging effects
of free radicals.
Aldosterone (ALdosteroneSOdium
Hormonal
regulation of sodium and potassium balance is
medicated by aldosterone. When circulating
blood volume or blood pressure is reduced,
sodium and water resorption (hangs on to Na+
and water follows sodium), WHY? To increase
blood volume and blood pressure
Natriuretic peptides
are hormones that include
atrial natriuretic peptide
(ANP) produced by the
myocardial atria, brain
natriuretic peptide (BNP)
produced by the
myocardial ventricles,
and urodilatin within the
kidney. Natriuretic peptides
decrease blood pressure
and increase sodium and
water excretion.
(ANTAGONIST OF THE RAAS)
Sodium
Regulator of fluids, nerve impulse
conduction, acid-base balance,
cellular chemical reactions, and
transport of substances across the
cellular membrane
hyponatremia
is associated with
hypoaldosteronism, loss of sodium,
inadequate intake, some
medications
hypernatremia
hyperaldosteronism, central
nervous system is most serious,
and some are the same as hyponatremia such as coma and seizures
hypocalcemia
Inadequate intestinal absorption, decreases in
PTH and vitamin D levels; nutritional deficiencies
– malnutrition; elevated calcitonin level Increased neuromuscular excitability; tingling,
muscle spasms (particularly in hands, feet, and
facial muscles), intestinal cramping, hyperactive
bowel sounds
phosphate (phosphorous)
ENERGY
hypophosphatemia
Intestinal
malabsorption related to vitamin D
deficiency, alcohol use disorder Reduced capacity for oxygen transport by red blood cells and disturbed energy metabolism (ATP); respiratory
failure (because of muscle weakness)
hyperphosphatemia
Acute or chronic
renal failure with significant loss of
glomerular filtration (kidneys main
excretory organ for phosphate); Symptoms similar to hypocalcemia; when
prolonged, calcification of soft tissues in
lungs, kidneys, joints
hypomagnesemia
Malnutrition, malabsorption syndromes,
alcohol use disorder, urinary losses (renal
tubular dysfunction, loop diuretics Behavioral changes, irritability, increased reflexes, muscle cramps, ataxia, nystagmus, tetany, convulsions, tachycardia
hypercalcemia
Hyperparathyroidism; bone metastases with calcium resorption from breast, prostate, renal, and cervical cancer; excess vitamin D; tumors that produce PTH; Fatigue, weakness, lethargy, anorexia, nausea, constipation; impaired renal function, kidney stones;
hypermagnesemia
Usually renal insufficiency or failure;
excessive intake of magnesium-containing
antacids
Lethargy, drowsiness; loss of deep tendon
reflexes; nausea and vomiting; muscle
weakness; bradycardia; respiratory distress;
heart block, cardiac arrest
Metabolic acidosis
TOO MUCH hydrogen load (H+)
KILU(high anion gap) Normal anion gap
K=ketones Loss if bicarb
I=Ingestion diarrhea
L=Lactic Acid Renal failure
U=Uremia
Compensatory response (kidneys in trouble – lungs try
to help) is ↑ CO2 excretion by lungs called Kussmaul
respirations – the patient presents with increased rate
and depth of respirations. Vomiting – get rid of acid!
aneuploid cells
are defined as those that do not contain a
multiple of 23 chromosomes.
monosomy
Mono=1) of any
chromosome is lethal
Trisomy
three copies of one chromosome is said to be trisomic (a condition termed trisomy). The most well-known example of aneuploidy in an autosome is
trisomy of the twenty-first chromosome: Down syndrome.
Intelligence quotients (IQs) between 20 and 70
Short stature
Facial appearance is distinctive, with a low nasal bridge, protruding
tongue, and flat, low-set ears
Cardiac structural abnormalities.
homozygous
means you inherited two identical versions
heterozygous
People who have a dominant trait,
brown eyes, only need one allele (heterozygous)
(or both can be as well- but doesn’t matter
epigenetics
the study of how a person’s environment and behaviors can affect how their genes work. Epigenetic changes are modifications to DNA that regulate whether genes are turned on or off, but they don’t change the DNA sequence. These changes can be reversible and can affect a person’s health in different ways
