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283 Cards in this Set
- Front
- Back
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What is the difference between PHYSIOLOGIC & PATHOGENIC cellular adaptations? |
PHYSIOLOGIC (adaptive): happens naturally over time. PATHOGENIC: caused by diseases, illnesses, or unnatural events. |
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_________ is a decrease in cell size. |
Atrophy |
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How does atrophy happen physiologically? |
Happens with early development e.g. the thymus |
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How does atrophy happen pathologically? |
Results from a decrease in workload (broken bones), decrease in use, pressure, blood supply, nutrition, hormonal stimulation, and nervous stimulation. |
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_______ is an increase in cell size. |
Hypertrophy |
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What causes hypertrophy? |
Caused by an increase in work demand (workout) or hormones (steroids). |
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What is hyperplasia? |
An increase in cell number. |
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What causes hyperplasia? |
Caused by an increased rate of cellular division. |
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How does hyperplasia happen physiologically? |
Allows organs to regenerate and replace lost tissue. e.g. Liver |
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This refers to abnormal changes in the size, shape & organization of mature cells. *can also be called atypical hyperplasia |
Dysplasia |
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What is metaplasia? |
its the reversible replacement of one mature cell by another less mature cell. Its a reprogramming of stem cells. e.g. replacement of normal bronchial columnar ciliated epithelial cells by stratified squamous epithelial cells. |
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What are the 4 biochemical themes in cell injury &d death? |
1) ATP depletion 2) Oxygen and oxygen-derived free radicals 3)Intracellular calcium & loss of calcium steady state 4)Defects in membrane permeability |
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What are the causes of the 4 themes in cell injury & cell death? |
-genetic factor -lack of oxygen (hypoxia) -intentional & unintentional injuries -inflammatory and immune response -causative or toxic chemicals -free radicals -infectious agents -insufficient nutrients -Physical trauma |
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What are the 3 types of hypoxic injuries and there causes? |
1)Anoxia: total lack of oxygen 2)Ischemic: reduced blood flow 3)reperfusion injuries: loss of oxygen and sudden blood flow restoration, producing free radicals. |
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How do cells respond to hypxic injuries? |
- Decrease in ATP causes failure of the sodium-potassium pump & sodium-calcium exchange. -cellular swelling. |
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How do free radicals and reactive oxygen species (ROS) cause cellular injuries? |
-Cause oxidative stress -Electrically uncharged atom or group of atoms having an unpaired electron -Results in membrane damage |
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What are the types of damage caused by free radicals & reactive oxygen species (ROS)? |
- Lipid peroxidation: 'the oxidative degradation of lipids. It is the process in which free radicals "steal" electrons from the lipids in cell membranes, resulting in cell damage.' -wikipedia.com -Alternation of proteins -Alternation of DNA -Mitochondrial damage |
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How do chemicals cause cellular injury? |
-Direct toxicity to the cell (damage to, or destruction of plasma membrane). -Cause rapid free radicals & lipid peroxidation |
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How do the following chemicals cause cellular injury? 1) Lead 2) Carbon Monoxide 3)Ethanol 4) Mercury |
1) Lead: Affects CNS & PNS 2) Carbon monoxide: produces hypoxic injuries. 3) Ethanol: Chronic alcoholism affects primarily the liver & stomach, causes FAS. 3) Mercury: Inhibits enzymes (e.g. catecholamine, catabolism) |
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What is the leading cause of child poising? |
medications |
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What is the leading cause of health care errors? |
Medication errors |
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These types of cellular injuries are caused by a failure of cells to receive or use oxygen? |
Asphyxial injuries |
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What are the 4 general categories of asphyxial injuries? |
1) suffocation (Chocking asphyxiation) 2)Drowning 3)Strangulation (hanging or manual) 4)Chemical Asphyxiation (cyanide& H2S)(Poisoning electron transport chain) |
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These types of cellular injuries are caused from pathogenicity or virulence of a microorganism. |
Infectious injuries |
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What 3 thing do infectious injuries depend on? |
-Invasion & destruction -Toxin production -Production of hypersensitivity reaction (our own immune response) |
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What do immunologic & inflammatory injuries do to the cell? |
-Cause membrane alterations (e.g. Histamine, lymphokines, complements...) -May damage uninjured & infected cells |
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What are hyperthermic & hypothermic injuries, and what do they produce? |
-Hypertheremic: Heat exaustion & heat strokes : produces burns -Hypothermic: Slows down celluar metabolic processes (chilling or freezing). :produces reactive oxygen species (ROS). |
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What are the 2 types of cellular death? |
-Necrosis (includes inflammatory change) -Apoptosis (No inflammatory change): by caspases or autophagy |
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Define necrosis |
The sum of cellular change after local death & the process of cellular auto digestion (autolysis). |
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This type of necrosis occurs in the kidneys, heart, & adrenal glands, causing protein denaturation. |
Coagulative necrosis |
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Where does liquefactive necrosis happen & what does it do? |
-Occurs in the neurons & glial cells in the brain. -Hydrolytic enzymes form liquid-filled cystic. |
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This type of necrosis is commonly caused by tuberculosis pulmonary infection & is a combination of coagulative & liquefactive necrosis. |
Causaeous necrosis AKA walled off (contained) necrosis. |
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Where does fat necrosis occur & what causes it? |
-Occurs in breast, pancreas, and other abdominal organs. -Caused by the action of lipase. |
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What causes gangrene necrosis? |
Hypoxia |
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What are the differences between dry & wet necrosis? |
Dry: result of coagulatice necrosis : Skin becomes very dry & shrinks, resulting in wrinkles & color changes to black or dark brown. Wet: Develops when neutrophils invade the site, causing liquefactive necrosis. :Usually occurs in internal organs which become cold, swollen and black. |
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What causes cellular accumulations (infiltration)? |
Infiltration:The pathological accumulation in tissue or cells of substances not normal to them or in amounts in excess of the normal. -"Crowds" organelles and causes excessive metabolites. -Water- causes swelling -Lipids and carbohydrates -Usually affects the liver (e.g. fatty liver) -Glycogen -In genetic disorders: Glycogen storage diseases. -Proteins -Accumulates in the renal convoluted tubule and B cells. -Pigments -Melanin, hemoproteins, bilirubin -Calcium -Dystrophic (dead) or metastic (normal) tissue calcification. -Urate: Uric acid - causes gout |
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________ is programmed cell death. |
Apoptosis |
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This is when cells are supposed to kill themselves, but don't. |
Dysregulated apoptosis |
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Why is there concern about dysregulated apoptosis? |
Cells that don't kill themselves when they are supposed to can lead to cancer, autoimmune disorders, neurodegenerative diseases, and ischemic injury. |
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"___________ is a normal physiological process in the body that deals with destruction of cells in the body. It maintains homeostasis or normal functioning by protein degradation and turnover of the destroyed cell organelles for new cell formation." |
Autophagy |
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This is the death of the entire person. |
Somatic death. *does NOT involve inflammatory responses.** |
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What are the postmortem changes? |
-Complete cessation of respiration and circulation -Algor mortis: Reduced temperature -Liver mortis: Purple skin discoloration -Riger mortis: Muscle stiffening -Postmortem autolysis: Putrefactive changes associated with the release of enzymes and lytic dissolution. |
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_________ is the sum of fluids within all body compartments. |
Total body water (TBW) |
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_______is fluid within the cell, while _____ is fluid outside the cell. |
Intracellular fluid (ICF), Extracellular fluid (ECF). |
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What are the extracellular fluid (ECF) compartments (groups)? |
-Interstital fluid -intravascular fluid -Lymph, synovial, intestinal, CSF, sweat, urine, plural, peritoneal, pericardial, and intraocular fluids. |
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What percent of newborn's body weight is water? |
75%-90% |
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What percent of childhood body weight is water? |
60%-65% |
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What age groups are susceptible to changes in body fluids, and why? |
Pediatrics: Due to their high metabolic rate and their accelerated turnover of body fluids caused by their greater body surface in proportion to total body size. Elderly: Due to an increased amount of fat and decrease in muscle mass. Also with age, the kidney becomes less effective in producing concentrated urine and thirst perception diminishes. |
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Define osmolality. |
"the concentration of an osmotic solution especially when measured in osmols or milliosmols per 1000 grams of solvent"
-merriam-webster.com |
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This causes water to move. |
Osmotic pressure |
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What are aquaporins? |
Water channels that provide permeability to water. |
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The forces favoring filtration ( or movement of water out of the capillary and into the interstitial space) include what? |
- Capillary hydrostatic pressure (Blood pressure) - Interstitial oncotic pressure (water pulling) ( Carrie Heart, Ian O) |
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What are the forces opposing filtration of cells? |
- Plasma oncotic pressure ( water pulling) - Interstitial hydrostatic pressure (Perry O, Is Hateful) |
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______is the excessive accumulation of fluid within the interstitial spaces. |
Edema |
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What can cause edema? |
-Increased capillary hydrostatic pressure ( venous obstruction). -Decreased plasma oncotic pressure (losses or diminished production of albumin) -Increased capillary permeability (inflammation and immune response) -Lymph obstruction (lymphedema) e.g. due to mastectomies. -sodium retention |
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What are the clinical manifestations of edema? |
- Can be generalized or localized - Dependent edema / pitting edema (dependent on gravity) - appears in legs and arms - "Third (interstitial) space" -Swelling and puffiness - Tighter fitting clothes and shoes -weight gain |
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How is edema treated? |
-Diuretics -Restrict salt intake -Avoid prolonged standing -use compression stockings or devices -Elevate edematous |
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What are the electrolyte cations and anions in intracellular fluids? |
Cation -Potassium Anion -Phosphate -organic ions (Caring Patients Always Produce Obedience) |
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What are the electrolyte cations and anions in extracellular fluids?
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Cation -Sodium Anion -Chloride -Bicarbonate (Caring Siblings Also Can Bother) |
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How do sodium and chloride produce ECF balance? |
Sodium: Regulates osmotic forces, thus water Chloride: Provides electroneutrality |
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What are the important body functions of sodium? |
-regulates osmotic forces -works with potassium and calcium to maintain neuromuscular irritability. -regulates acid-base balance - participates in chemical reactions -membrane transport |
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The sodium and water regulation mechanism is known as what? |
Renin-angiotensin-aldosterone system |
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How does aldosterone contribute to water balance? |
It increases water ans sodium reabsorption by the distal tubule of the kidney. |
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What are natriuretic peptides and what do they do? |
They are hormones that decrease tubular reaporption by the distal tubule of the kidney. e.g. Atrial natriuretic peptide |
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How is water balance regulated? |
Its regulated by thirst perception and the antidiuretic hormone (ADH). |
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What receptors are important for thirst perception, and what stimulates them and what does it cause? |
Osmolarity receptors -Stimulated from hyperosmolarity, dry mouth, plasma, plasma-volume depletion. - Produce thirst, therefore water intake. Baroreceptors -Stimulates from depleted plasma volume. -Causes release of ADH |
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______is caused when blood sodium levels are high. |
Hypernatremia |
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What causes hypernatremia? |
-Excess sodium gain or water loss -water movement from the ICF to the ECF ( intracellular dehydration). |
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What are the clinical manifestations oh hypernatremia? |
Convulsions, pulmonary edema, hypotension , tachycardia |
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How is hypernatermia treated? |
Isotonic salt-free fluids |
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When is ADH released and what does it do? |
-Is released when there is an increase in plasma osmolarity or decrease in blood volume. -increases water reabsorption. |
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What is water deficit? |
- dehydration (not taking in enough water) -renal clearance of unconcentrated urine (hangover) |
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What are the manifestations of water deficits? |
-Tachycardia (abnormal heart rate), weak pulse, and postural hypotension -Headache, dry skin, dry mucous membranes |
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What is the treatment for Water deficits? |
-Give water and stop fluid loss -Hypotonic saline solutions or 5% dexterose in water. |
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What is hyponatremia, and what does it do on a cellular level? |
-Low blood sodium levels (due to pure sodium deflects (diuretcis, diarrhea, vomiting); low sodium intake; dilutional hyopnatremia (excess water)). -Decreases the ECF osmotic pressure, and water moves into the cell via osmosis causing cellular swelling. |
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What are the clinical manifestations of hyponatremia? |
Lethargy (lack of energy and enthusiasm),headache, confusion, apprehension, seizures, and coma. |
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How is hyponatremia treated? |
-Depends on underlying disorder -Restrict water intake -Administer intravenous (IV) fluids |
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What causes water excess? |
-Compulsive water drinking (water intoxication) -Decreased urine formation |
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What are the clinical manifestations of water excess? |
-Cerebral edema -muscle twitching -headache -weight gain |
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How is water excess treated? |
-fluid restrictions; may need hypertonic sodium chloride (3% NaCl) IV solution. |
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What is the major intracellular cation? |
Potassium |
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Why is Potassium essential to the human body? |
Essential for the transmission and conduction of nerve impulses, normal cardiac rhythms, and skeletal and smooth muscle contractions. |
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What facilitate Potassium movement into a cell? |
Aldosterone, insulin, epinephrine, and alkalosis. |
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What facilitates the movement of Potassium out of a cell? |
Insulin deficiency, aldosterone deficiency, acidosis, and strenuous exercise |
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What maintains the concentration of potassium in the body? |
The sodium/potassium pump |
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What is hypokalemia? |
Low levels of potassium in the blood |
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What causes hypokalemia? |
-Reduced intake of potassium -Increased entry of potassium into cells -increased loss of potassium |
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What is the treatment for hypokalemia? |
Replace potassium orally and/or IV |
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What are the manifestations of hypokalemia? |
*depends on rate and severity* -The cell membrane may become hyperpolerized, causing -decrease in neuroexcitability -Skeletal muscle weakness -cardiac dysrythmias |
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This is high levels of potassium in the blood |
Hyperkalemia |
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How come is hyperkalemia a rare disorder? |
renal excretions tend to be quite efficient |
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What causes hyperkalemia? |
-Increased intake of potassium -A shift in potassium from ICF onto ECF -decreased renal excretion -insulin deficiency -cell trauma |
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What are the symptoms of mild and severe hyperkalemia attacks? |
mild -Tingling of lips and fingers -restlessness -intestinal cramping and diarrhea -T waves on the ECG Severe -Muscle weakness -loss of muscle tone -flaccid paralysis -cardiac arrest |
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What is the importance of calcium in the body? |
-Structure of bones and teeth -Blood clotting -Hormone secretions -cell receptor function -Muscle contractions |
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Most calcium is located in the bones as_________. |
Hydroxyapatite a mineral of the apatite group that is the main inorganic constituent of tooth enamel and bone, although it is rare in rocks. |
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What hormones regulate calcium and phosphate? And what is their job in regulation? |
-Parathyroid hormone (PTH) -increases plasma calcium levels via kidney reabsorption -Vitamin D -Is a fat-soluble steroid: increases calcium absorption from the gastrointestinal tract (GI). Calcitonin -Decreases plasma calcium levels |
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What causes hypocalemia? |
-Inadequate intake or absorption of calcium -Decreases PTH and Vitamin D |
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How is Hypocalcemia treated? |
-Calcium replacement -Decreased phosphate intake |
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What are the manifestations of hypocalcemia? |
-increased Neuromuscular excitability (partial depolarization -Muscle spasms -tetany |
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What causes hypercalcemia? |
-Hyperthyroidism -Excess of vitamin D -Immobilization -Acidosis |
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What are the manifestations of hypercalcemia? |
-Decreased neuromuscular excitability -Muscle weakness -Kidney stones -Constipation -Heart block |
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How is hypercalcemia treated? |
-Oral Phosphate -Biphosphonates -Calcitonin -Corticosteroids |
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What are the fatal pH levels? |
below 6.8 and above 7.8 |
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What organs are involved in acid-base regulation? |
Lungs, bones, and kidneys |
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H+ must be _____ or ______ to maintain the bodys normal pH. |
*order doesnt matter* neutralized, excreted |
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How are acids formed? |
Acids are formed as end products of protein, carbohydrates, and fat-metabolism. |
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What is the body's normal pH levels? |
7.35-7.45 |
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What is the volatile (easy to get rid of) acids in the body? and how does the body get rid of it? |
-carbonic acids (H2CO3) -Acids can eliminated as gas via the lungs |
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What are the nonvolatile acids in the body? and how does the body get rid of it? |
-Sulfuric acid, phosphoric acid, and other metabolic acids -Is eliminated by the renal tubules with the regulation oh HCO3- |
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Acids ans bases are regulated by what formula? |
Co2 + H2O<--->H2Co3<--->HCo3+ + H- |
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_______ is a chemical that can bind excessive H+ or OH- without a significant change in pH. |
Buffer |
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Where are the buffer systems located? |
In the ECF and ICF |
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What is a buffering pair? |
A weak acid and its weak conguate base |
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The plasma buffering system consists of what? |
The carbonic acid-bicarbonate system and hemoglobin |
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Describe protein buffering |
Both ICF and ECF proteins have negative charges that can serve as buffers for H+ Hemoglobin is a great ICF buffer because of its ability to bind with H+? |
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Describe Renal and respiratory buffering. |
Respiratory: Acidemia causes ventilation; alkalosis slows respiration. Renal: Secretion of H+ in urine and reaborption of HCO3- |
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What are the 4 categories of acid-base imbalances? |
-Metabolic acidosis: Depression of HCO3- or an increase in noncarbonic acids -Metabolic alkalosis: Elevation of HCO3-, usually as a result of excess loss of metabolic acids. -respiratory alkalosis: Elevation of P Co2 as a result of hyperventilation -respiratory acidosis: Depression of P Co2 as a result of ventilation depression. |
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What causes metabolic Acidosis? |
-Renal failure -Diabetic ketoacidosis -Diarrhea -Starvation |
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What are the manifestations of metabolic acidosis? |
-Headache -Lethargy -Kussmaul respiration (shallow, deep breaths) |
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How is metabolic acidosis treated? |
-Bicarbonate -Lactate-containing solutions -treat the underlying cause(s) |
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What causes metabolic alkalosis? |
-Prolonged vomiting -excessive bicarbonate intake -Diuretic therepy |
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What are the manifestations of metabolic alkalosis? |
-weakness -Muscle cramps -hyperactive reflexes |
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How is metabolic alkalosis treated? |
-sodium and chloride -Chloride IV (chloride replaces HCO3-) |
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what causes Respiratory Acidosis? |
-Depression of respiration (over sedation, paralysis) -Disorders of the lung (pulmonary edema, emphysema, asthma, bronchitis) |
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What are the manifestations of respiratory acidosis? |
-Headache -restlessness -tremors -muscle twitching -convulsions -comas |
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How is respiratory acidosis treated? |
-Restoration of ventilation -Administer IV lactate fluids |
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What causes respiratory alkalosis? |
-hyperventilation -hypermetabolic states (fever, thyroid disorders, ect) -High altitudes |
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What are the manifestations of respiratory alkalosis? |
-Dizziness -Confusion -tingling -convulsions -comas |
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How is Respiratory alkalosis treated? |
-Paper bag -Treat hypermatabolic states -Administer IV choride fluids |
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DNA is formed in ______, proteins is formed in the ______. |
Nucleus, cytoplasm |
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_____is the synthesis of RNA from a DNA template in the nucleus. |
transcription |
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_______is the synthesis of protein from mRNA in the cytoplasm |
Translation |
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______ cells are diploids while ______ are haploids. |
Somatic, gamete |
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_____ is the formation of haploid cells from diploid cells. |
meiosis |
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Chromosomal aberrations are detected by______. |
Karotype |
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Cells that have a multiple of the normal number of chromosomes are said to be______ cells. |
euploid cells ( Greek eu=good or true) |
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When a euploid cell has more than the diploid number of chromosomes it is said to be a ______ cell. |
Polyploid |
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A zygote having three copies of each chromosome, rather than the usual two, has a form of ployploid called______. |
Triploidy *Fetuses do not survive or are still born or spontaneously aborted* |
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______ is a zygote with 4x the normal amount of chromosomes. |
Tetraploidy *Fetuses do not survive or are still born or spontaneously aborted* |
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What is aneuploidy? |
A somatic cell with a abnormal number of chromosomes caused by disjunction. |
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Whats the difference between trisomy and monosomy? |
-Trisomy: 3 copies of one chromosome -Monosomy:1 copy of any chromosome (fatal in autosomes) |
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What sex chromosome is optional? |
the Y chromosome *extra x chromosomes are inactivated* |
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What are the common survivable trisomy chromosomes? |
chromosomes 13,18, 21, most others do not survive |
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What is partial trisomy? |
Only an extra portion of a chromosome is present in each cell. *not as severe as trisomies* |
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-Are trisomies that occur in only some cells -Body has 2 or more different cell lines, each of which has a different karyotype |
chromosomal mosaics |
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What are the manifestations of Downs syndrome? |
Mental challenges, epicanthal eyes (eyelids), protruding tongue, and poor muscle tone. |
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What illnesses are those with downs more prone too? |
-lukemia -congenital heart disease -respiratory infections |
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What sex chromosome is more likely to have an aneuploidy? |
the x chromosome |
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What are the symptoms of those with sex chromosome aneuploidy? |
-sterility -mensuration irregularity -cognitive deficits *symptoms worsen with every extra X chromosome* |
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Females with only one X chromosome have this. |
Turner syndrome |
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What are the characteristics of those with turner syndrome? |
-Absence of ovaries -short stature -Webbing of the neck -widely spaced nipples -few survive to birth *x chromosome that is usually inherited by the mother* |
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How is turners syndrome treated when they reach the teenage years? |
Estrogen treatments |
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What is Klienefelter syndrome? |
Males with 2 x chromosomes (XXY) |
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What are the characteristics of Klienefelter syndrome? |
-Male appearance -Female like breasts (gynemastial) -Small testes -Sparse body hair * abnormalities increase with every x chromosome* |
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______is chromosome breakage or loss of DNA. |
Deletion |
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These chromosomal abnormalities have excess genetic material but usually have less serious consequences. |
Duplication |
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What happens when chromosomes are inverted? |
-ABCDEFG becomes ABEDCFG - Usually affects offspring |
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Whats different about the genetic make-up of those with Cri Du Chat syndrome? |
Loss of the P arm on chromosome 5. |
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Babies born with Cri Du Chat have what characteristics? |
-Low birth weight -mentally challenged -challenged microcephaly (abnormal smallness of the head, a congenital condition associated with incomplete brain development) |
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_______ is the exchange of genetic material between nonhomologous chromosomes. |
Translocation |
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What is the deference of the genetic make-up of Robertsonian translocation? |
Long arms of the 2 nonhomologous chromosomes fuse at eh centremere, forming a single chromosome. Common in Downs syndrome. |
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What is the deference of the genetic make-up of Reciprocal translocation?
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Breaks take place in 2 different chromosomes, and the material is exchanged. |
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What is fragile X syndrome? |
-The long arm of the x chromosome has an elevated number of repeated DNA sequences. -More common challenges. Is associated with being mentally challenged; is second in occurrence to. Downs syndrome |
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Define Locus |
The location of gene |
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Define allele |
Alternate form of genes |
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_____ is a locus that has 2 or more alleles. |
Polymorphism |
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What happens when phenylketunuria goes untreated versus treated? |
-If left untreated, the infant will have cognitive impairment, which is in the PKU phenotype. -If treated, the infant will still have the PKU genotype, but will have a PKU phenotype. |
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What are the two Mendel's laws? |
Principle of segregation -Homologous genes separate from one another -Each cell carries only one of the homologous genes. Principle of independent assortment -Hereditary transmission of one gene has no effect on the transmission of another. |
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A pedigree begins with one individual in a family called what? |
Proband (the first person diagnosed in a clinic) |
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About how many children of infected autosomal dominant, heterozygous parents, will present the the condition? |
Approximately one half |
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What is Cystic Fibrosis? |
Gene forms chlorine channels with defective transport, which leads to a salt imbalance that result abnormally thick, dehydrated mucus. The lungs and pancreas are affected; the person does not survive past 40 years of age. |
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What are the characteristics of autosomal recessive inheritance? |
-condition is expressed equally in males and females. -Is observed in parents but not in parents -Approximately one-quarter of offspring will be affected (one half are carriers). -Consanguinity may be present -Marriage between related individuals |
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When does X chromosome inactivation occur? |
Early in embryonic development |
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What is a Barr body? |
Its the one X chromosome in the somatic cells of females, that is permanently inactivated. |
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Whats the difference between sex-limited traits ans sex-influenced traits? |
-Sex-limited traits: occurs only in one of the sexes. (breasts) -Sex-influenced traits: Occurs significantly more in one than the other. (pattern balding) |
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What are the characteristics of x-liked recessive inheritance? |
-occurs more often in males than females. -The trait is never transmitted from father to son. -All of the daughters of an infected father will be carriers. -The trait may skip generations via female carriers. -half of the sons will be affected and half of the daughters will be carriers. |
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What is Duchenne muscular dystrophy? |
-X linked recessive trait -occurs more so in males and very rarely in females -deletion of DMD gene causes dystropin not to work properly; consequently, muscle cells do not survive. |
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Whats the importance of genetic testing? |
-Confirm the diagnosis of a gene disease. -Identify carriers of recessive diseases. |
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Whats the difference between incidence rate and prevalence rate? |
-Incidence rate: Number of new cases reported during a specific period, divided by the number of individuals in the population. -Prevalence rate: The proportion of the population affected by a disease at a specific point in time. |
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Define relative risk |
The incidence among individuals exposed to a risk factor divide by the incidence among individuals not exposed to a risk factor. |
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Traits in which variation is thought to be caused by the combined effects of multiple genes are called ________. |
polygenic ("many genes") |
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Define multifactorial traits |
When environmental factors are also believed to cause variation in the trait, its called mutifactorial. |
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_________ traits are measurable on a continuous numeric scale and follow a normal bell curve for distribution. |
Quantitative traits e.g. BP |
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Why is id difficult to determine in multifactorial diseases? |
The number of genes involved is usually unknown, the genotypes of the parents is also not known, and the environmental effects can vary. * recurrence risk become higher if more than one family member is affected* |
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What are the two research studies used to estimate the influences of nature vs nurture? |
-Twin studies usually consist of comparisons between monozygotic (MZ) and dizygotic (DZ) twins. -Adoption studies -Children born to parents who have a disease but then subsequently adopted by parents lacking the disease are studied for disease are studied for the disease recurrence. -indication of the genetic factors |
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What causes congenital malformations? |
-Environmental factors (therefore mutifactorial) |
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What causes Coronary Heart diseases? |
Atherosclerosis which can result in myocardial infarction (heart attack) or a cerebrovascular accident (stroke) |
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Your risks of getting coronary heart diseases increase when? |
-More affected relative exist -Affected relative are female rather than male -Age of onset in the affected relatives is younger than 55 years old -High-fat diet, lack of exercise, smoking, and obesity |
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What causes type 1 diabetes? What are the risk factors? |
-caused by the autoimmune destruction of insulin-producing beta cells in the pancreas. -risk factors -Siblings of individuals with type 1 diabetes have an increased risk -Infected parents -association of specific human leukocyte antigen (HLA) class II antigen is 40% -Those with the inherited variations of the insulin gene have a 10% increased risk -Monozygotic twins have a 30%-50% of both having type 1, whereas dizygotic twins have a 5%-10% |
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What distinguishes type 2 diabetes from type 1? |
-Neither HLA or autoantibodies are present -insulin resistance is present, or insulin resistance is present, or insulin production is diminished |
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What are the risk factors and recurrence risks of type 2 diabetes? |
Risk factors -Obesity -family history -lack of exercise Recurrence risk -MZ twins have a 90% risk -First-degree relatives have 15%-40% risk |
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What puts an individual at a higher risk of becoming an alcoholic? |
-Risks are 3-5 times higher in the individual with an alcoholic parent -Adoption studies -Offspring of an alcoholic parent, even when raised by nonalcoholic parents, have a fourfold increased risk. -Offspring of nonalcoholic, when raised by alcoholic parents, did not have an increased risk. -Twin studies: MZ and DZ pairs have a >60% and <30%, respectively, increased risk. |
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___________ is also called maniac depression disorder. |
Bipolar affective disorder |
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In bipolar disorder, mutated genes affect what in the body? |
-serotonin -dopamine -noradrenaline systems (neurotransmitter systems) |
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What are some lifestyle modifications that can reduce the risk of genetic disorders? |
-diet -Exercise -Stress reduction |
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______is an exaggerated response against an environmental pathogen. |
Allergy |
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Define autoimmunity |
A misdirected response against the host's own cells. |
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_____ is a directed response against beneficial foreign tissues (e.g transplants, transfusions). |
Alloimmunity |
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Define immunodeficiency. |
The body'd immunity is insufficient to protect the host. |
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__________ is an altered immunologic response to an antigen that results in disease or damage to the host. |
Hypersensitivity e.g. allergy, autoimmunity, alloimmunity |
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What are the 3 variables of hypersensitivity? |
-Original "insult": Alters tolerance to self-antigens or the lack of immune reaction against the environmental antigens. -Genetic factors: determine the degree of the immune response. -Immunologic process: Causes disease symptoms. |
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How are different hypersensitivities characterized? |
-Type l (IgE Mediated) -Type ll (Tissue-specific reactions) -Type lll (immune complex mediated) -Type lV (Cell-mediated, Delayed) ACID (anaphylaxis, Cytoxic mediated, Immune complex mediated, Delayed hypersensitivity) |
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Anaphylaxis depends on the level of _________. |
Sensitivity |
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What are some signs/ symptoms of Anaphylaxis? |
-Itching -Erythema -Headaches -Contraction of respiratory bronchioles -Vomiting, abdominal cramps, diarrhea -Vascular collapse |
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Type l hypersensitivity is ____________mediated. |
Immunoglobulin E mediated. |
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What type of antigens is hypersensitivity type l against? |
Environmental antigens (allergens). IgE binds to (Fc) receptors on the surface of mast cells; cross linking causes the release of histamine from mast cell degranulation. |
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What are the manifestations of type l hypersensitivity? |
-Bronchial constrictions (e.g. asthma) -edema -Vasdilation |
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What is the target of type ll hypersensitivity? |
Specific cells or tissues (tissue-specific antigens) |
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What are the mechanisms of type ll hypersensitivity? |
-Cell is destroyed by antibodies and complement. -Neutrophils release granules -Causes target cell malfunction e.g drug allergies |
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Type lll hypersensitivity is _____________mediated. |
Immune (antigen-antibody) complex mediated. |
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In type lll hypersensitivity complexes are formed in _______ and deposited later in _______________. |
Circulation, vessel walls or extravascular tissues. *is not organ specific* |
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Type lll hypersensitivity damage results from what? |
Damage results from complements activation and neutrophil lysosomal enzymes. |
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Type lV hypersensitivity is ____________mediated. |
T lymphocyte or cell mediated -Destruction of the tissue is usually caused by direct killing by toxins from cytotoxic T (Tc) cells. -E.g Graft rejections, skin test for TB, contact allergic reactions, and some autoimmune diseases. |
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What are the manifestations of hypersensitivity reactions? |
-Conjunctivitis, rhinitis, vomiting, diarrhea, or abdominal pain -Urticaria (hives) -Can result in anaphylaxis |
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What are the tests done to determine if you have an allergy to something? |
-Skin tests -Food challenges -Laboratory tests for IgE |
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What is allergen desensitization? |
Injections with allergen to bind to another allergen and produce desensitization. -IgG-blocking antibodies |
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_________is the break down of tolerance in which the body's immune system begins to recognize self-antigens as foreign. |
Autoimmunity |
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what is alloimmunity? |
Individuals immune system reacting against antigens on the tissues of other members of the same species. e.g transplants, transfussions |
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What is the hemolytic disease of the newborn? |
When Rh-ve Mother gives birth to Rh+ve |
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Rh____ express the D antigen while the Rh____ do not. |
Positive, Negative |
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What are the 3 classifications of transplant rejections (alloimmunity)? |
-Hyperacute: Immediate and rare; reexisting antibody to graft antigens -Acute: Cell-mediated response against unmatched HLA antigen. -Chronic: Months or years; due to a weak cell-mediated reaction against minor HLA antigens. |
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Deficiencies in Immunity are due to impaired function of what? |
-T cells -B cells -Phagocytes -complements |
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What are the 2 different categories of immune deficiencies? |
-Primary (cogenital): Genetic -Secondary (acquired): Caused by other illnesses (HIV) |
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What are the different groups of primary immune deficiencies? |
-B-lymphocyte Deficiencies: Hypogammaglobuliema or agammaglobulinemia -T-Lymphocyte deficiencies: -DiGeorge syndrome-Partial or complete absence of t-cell immunity from a partial thymus. -Chronic mucocutaneous candidiasis-T lymphocytes don't recognize the yeast Candida ablicans -Combined T-and B-lymphocyte deficiencies: Severe combined immunodeficiency (SCID) |
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What is SCIDs (severe Combined Immunodeficiency)? |
Its the total lack of T-cell function with severe (either partial or total) lack of B-cell function. |
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What causes SCIDs? |
Mutations in critical enzymes (eg. adenosine deaminase (ADA) deficiency results in toxic purine metabolites in rapidly dividing cells) |
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Secondary Immune deficiencies are also referred to as ________. |
Acquired deficiencies |
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What are secondary immune deficiencies related to? |
Conditions and diseases like -Normal physiological and primary deficiencies -Dietary insufficiencies -Malignancies and metabolic diseases -Environmental and physical trauma -Medical treatments -Infections and acquired immunodeficiency syndrome |
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What treatments need to be avoided when someone has immune deficiency? |
-Attenuated vaccines -Blood products |
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Individuals who are imunnocompromised are are at risk for what possibly fatal disease? |
Graft Vs Host Disease (GVHD) -T-cells in the graft are more mature and capable of cell-mediated destruction of tissue in the recipient |
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What are the different replacement therapies for immune deficient people? |
-Gene therapy -Gama-globulin therapy: lasts only approximately 3-4 weeks, is administered intramuscularly (IM) or IV. -Transplant or transfusion: HLA antigens are matched -Treatment with soluble immune modulators: helps T-calls function |
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Tumors are also referred to as_______. |
neoplasm |
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Cancer is another name for ___________. |
Malignant tumor. |
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Tumors are abnormal growth resulting from_______________. |
uncontrolled proliferation. |
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What are the 2 different classifications of tumors? |
-Benign -Malignant |
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Malignant epithelial tumors are called__________. |
Carcinomas |
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Tumors is glands or ducts are called_________. |
Adenocarcinoms |
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Where are sarcomas found? |
connective tissues *malignant connective tissue tumors |
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What are Lymphomas? |
Cancers of the lymphatic tissues |
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Cancers of blood-forming cells are called_____________. |
leukemias |
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Whats the difference between benign and malignant tumors? |
Benign: Slow growth, well-defined, not invasive, low mitotic index. Malignant: Rapid growth, not encapsulated, invasive, poorly differentiated( anaplasia), High mitotic index, can spread distantly (metastasis) |
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What are tumor markers? Where are they found? |
Substances produced by benign or malignant cells. (Hormones, enzymes, genes, antigens, or antibodies).They are found on or in a tumor cell, in the blood, in the spinal cord. |
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What are Tumor markers used for? |
-To screen and identify individuals at high risk for cancer. -Diagnoses different types of tumor -Observe the clinical course of cancer |
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What is cancer cell transformation? |
-The process by which a normal cell becomes a cancer cell. -The cancer cell becomes independent from cellular controls -lacks the ability to stop dividing (lacks inhibition) -Doesn't need to be anchored to a basement membrane (anchorage independent) -Immortal (not programmed to die) - Anaplasia occurs (condition in which cells have poor differentiation) -Pleomorphic: Variable sizes and shapes |
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What is cancer cell metabolism? |
The cancer cell use of gycolysis which allows lactate and its metabolites to be used for rapid cell growth. *causes cancer patients to have the 'wasting away' look* |
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What are the requirements needed for cancer cells to develop? |
-4-7 specific mutation need to occur -"step-wise" accumulation of mutation in a specific gene -activate growth-promotion pathways prevent apoptosis -Turn on telomerase and new blood vessel growth -Allow tissue invasion and distant metastasis |
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Define proto-oncogenes |
Normal non-mutant genes that code for cellular growth |
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_______are mutant genes that produce growth-related products. |
oncogenes |
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Define tumor-suppressor genes |
genes that encode proteins that, in their normal state, inhibit growth. |
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What is gene amplification? |
When a small piece of chromosome is duplicated over and over resulting in an increased expression of an oncogene. |
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What does the inactivation of tumor-suppressor genes do? |
-Allows unregulated cellular growth -Takes 2 "hits" to inactivate the 2 alleles of a tumor suppressor gene. |
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What are caretaker genes? |
-they are responsible for the maintenance of genomic integrity -Encode proteins that are involved in repairing damaged DNA. * loss of function of this gene leads to increased mutation rates. |
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_______ is the development/growth of a new blood vessel. |
Angiogenesis |
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What is the hayflick limit? |
The concept that states that a normal human cell can only replicate a certain amount of times before apoptosis. |
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Chromosomes have protective caps celled ________ which become smaller with each cell division. |
Telomeres |
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Cancer cells can activate _________ which maintain the telomeres and lead to continued division. |
telonerase |
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Defects in the immune system increase the risk of what types of cancers? |
increase the risk of viral-associated cancers -but have a minimal effect on the risk of other cancers. |
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Defects in the immune system increase the risk of viral-associated cancers. What are the 5 viruses that abuse this?
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-Epstein-Barr virus (EBV) -Can lead to the development of B-cell Lymphomas. -Kaposi sarcoma herpesvirus (KSHV) -More virulent in individuals who are immunocompromised, especially those with HIV. -Human Papillomavirus (HPV) -implication of cervical cancer -Chronic hepatitis B infections -Increased chance of liver cancers -Chronic hepatitis C infections -increases risks of liver cancer |
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Chronic Helicobacter pylori infections are associated with what cancers/diseases? |
-Peptic ulcer disease -stomach carcinomas -Mucosa-associated lymphoid tissue lymphomas |
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______is the spread of cancer cells from the site of the original tumor. |
metastasis |
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Metastasis involves several steps. What are they? |
-Invade (and then spread) -Survive -Proliferate -Recruit |
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What the differences between the different stages of cancer? |
-Stage 1 :is confined to its origin -Stage 2: Is locally invasive -Stage 3: Has advanced to regional structures -Stage 4: Has spread to distant sites |
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What are the clinical manifestations of Cancer? What how does cancer cause the manifestations? |
-Pain (more so associated with the late stages) -causes: pressure, obstruction, invasion of sensitive structures, stretching, tissue destruction, and inflammation. -Fatigue (most frequent symptom) -Causes: sleep disturbances,biochemical changes, psychosocial factors, level of activity, nutritional status, and environmental factors -Cachexia ('wasting away') -Anorexia, weight loss, anemia, asthenia, taste alterations, and altered protien, lipid and carbohydrate metabolism -Anemia (due to decreased hemoglobin) -Chronic bleeding, severe malnutrition, chemotherapy, radiation, or malignancy in blood-forming organs -Leukopenia and thrombocytopenia -chemotherapy and radiation are toxic to bone marrow -Infection -GI tract (oral ulcers, stomatitis, malabsorption, diarrhea -Hair loss (usually the result of chemotherapy) |
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What are the cancer treatments? |
-Chemotherapy (targets rapidly dividing cells) -Radiotherapy (targets cancer cells and minimizes damage to other cells, but can cause irriverable damage to other cells) -Surgery (best treatment) -Combinations of the above -Alternative therapies |
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2/3 of all cancers are caused by what factors? |
-environmental/lifestyle factors interacting with genes |
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_______ are changes in genetic expression (phenotype) without DNA mutations. |
Epigenetics note: this usually involves factors that silence genes that should be active or activating genes that should be silent |
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In utero and early life, what conditions increase susceptibility to cancer? |
-Prenatal exposure -Parental exposure before conception -In utero exposure: Diet, drugs, toxins -Possible toxins in breast milk after birth -Gene and environmental interactions
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_________is the degree to which development is contingent on it's environment. |
Developmental plasticity |
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Cigarette smoking is a __________ and causes about ___ out of _____ cancer death. |
carcinogenic, 1 out of 5 |
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Tobacco use is linked to what types of cancer? |
-Upper respiratory tract -lower respiratory tract - digestive tract -Kidney -bladder -uterus -cervix -ovaries -acute leukemia |
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_________is the study of nutrition on the phenotypic variability of individuals, based on genomic differences. |
nutrigenomics |
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Diet may account for ___% of the overall risk factors for cancer. |
30% |
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_________is a foreign chemical substance found within an organism that is not normally naturally produced by or expected to be present within that organism. They are toxic, mutagenic, and carcinogenic chemicals in food.
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Xenobiotic *compunds produced in the cooking of fat, meat, or proteins |
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What are some foods that decrease the risk of cancer? |
-Fruits/Vegetables -Fiber -Foods containing vit A, B6, C, D, E, and folate -whole grains -Legumes/nuts |
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What are foods that increase the risk for cancer? |
-Fat -High-glycemic index carbohydrates -foods with high amounts of preservatives -Alcohol -Grilled, blackened food -Fried foods -refined grain products Diets high in red meats and processed food: colorectal cancer |
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Obesity is associated with what types of cancer? |
-Endometrial -Colorectal -Kidney -Esophageal -Breast (postmenopausal) -pancreatic Also related to increased incidences of esophagus, gastric, colorectal, liver gallbladder, pancreatic, breast, uterine, cervical, ovarian, and kidney cancers |
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Obesity increases insulin resistance, producing __________. |
hyperinsulinemia |
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Alcohol increases the risk for what cancer types? |
-Oral cavity -Pharynx -Larynx -esophageal -liver -colorectal -breast Substantial alcohol consumption has been associated with head/neck cancers |
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Physical activity decreases the risk of what cancer types which are independent of weight changes? |
-Breast -colon - endometrial |
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How does physical activity decrease the risk of cancer? |
-Decreases insulin and insulin-like growth factors -Decreases obesity -decreases inflammation -Improves immune function -increases gut motility |
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What infections contribute to cancer? |
-HPV :cervical cancer -Hep B and C together: liver cancer -Helicobactor pylori: Stomach cancer -Epstein-Barr Virus: Cancers of the nasopharynx, lymphoma |
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How does ionizing radiation cause cancer? |
Energy from radiation causes cell death, gene mutations, or chromosome aberrations. -Oncogene activation (promotes growth) -Tumor-suppressor genes deactivation (stop growth decrease) -Chromosomal aberrations and DNA damage -Genomic instability -Bystander effects (other cells around tumor get infected)
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Ultraviolet radiation causes what types of cancer? |
-Basal cell carcinoma -Squamous cell Carcinoma -Melanoma |
