Term
What percentage of your blood is cellular?
Related to cellular, what is the composition of the cellular portion?
What percent of blood is fluid? What does that component consist of? |
|
Definition
What percentage of your blood is cellular? 40-48%
Related to cellular, what is the composition of the cellular portion? RBC, WBC, Platelets
What percent of blood is fluid? 52-60%
What does that component consist of? Plasma and serum |
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|
Term
What are the functions of blood? (4) |
|
Definition
transport
defense
Regulation of body temperature
Hemostasis |
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|
Term
What are the stimulators that promote hematopoiesis?
What is the name of the cell that responds to perceived metabolic needs in commitment to specific cell line production? |
|
Definition
What are the stimulators that promote hematopoiesis?
Erythropoietin
Leukopoetin
Thrombopoetin
cytokines
interleukins
What is the name of the cell that responds to perceived metabolic needs in commitment to specific cell line production?
PURIPOTENTIAL STEM CELL
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Term
What stimulates erythropoiesis? |
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Definition
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Term
What are sites of erythropoiesis in an adult vs a fetus?
Adult (4)
Fetus (5) |
|
Definition
Sites—Adult
Bone marrow of axial skeleton, proximal epiphyses of long bones, skull; lymph nodes
Sites—Fetus
Yolk sac, placenta→bone marrow, spleen, liver, lymph nodes |
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Term
What type of cell is released to replace senescent RBCs?
Are they slightly larger or smaller than mature RBCs?
How would you describe the MCHC of this type of cell? |
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Definition
What type of cell is released to replace senescent RBCs? RETICULOCYTES ("adolescent")
Are they slightly larger or smaller than mature RBCs?
slightly larger
How would you describe the MCHC of this type of cell?
polychromatophilic |
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Term
Describe the morphology of a NORMAl RBC. (2) |
|
Definition
biconcave disc
Reversible deformability |
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|
Term
What is a senescent erythrocyte?
Who helps to remove it from circulation?
What protein helps to recycle it?
It's part of what type of production? |
|
Definition
What is a senescent erythrocyte? aged, damaged, abnormal RBC's removed from circulation
Who helps to remove it from circulation?
Macrophages of spleen, liver, BM
What protein helps to recycle it? transferrin; iron (stored in tissues as ferritin), globin
It's part of what type of production? bilirubin production |
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|
Term
Check out diagram of Iron cycle from Pepe lecture |
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Definition
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|
Term
What are the 4 types of hemoglobin? |
|
Definition
Hgb A, 2 alpha, 2 beta
Hgb A2, 2 alpha 2 delta
Hgb F (predom Hgb in fetus), 2 alpha, 2 gamma
HgbS: 2 alpha, 2 beta (substitution of valine for glutamic acid) |
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|
Term
What does hematocrit measure?
What does hemoglobin measure? |
|
Definition
Hematocrit: mesure of packed red cell volume
Hgb: measure of total amt hgb in blood |
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|
Term
What is the composition of a RBC?
|
|
Definition
Globin molecule: 2 pairs of amino acid chains
type of Hgb based on AA pairs
4 heme units: contain iron |
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|
Term
What are the RBC indices?
What do they measure? |
|
Definition
MCV: avg volume (size) of single RBC
MCH: avg RBC mass
MCHC: concentration of hgb in single RBC |
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|
Term
What are type sof blood abnormalities?
(3) |
|
Definition
hemochromatosis (overload of iron)
cab be primary (genetic)
secondary (ie. alcoholism)
Polycythemia
Primary
Secondary: ie. COPD
Anemia
decreased RBC or Hgb OR BOTH
categorize based on RBC indices |
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|
Term
What are three manifestations of anemia? |
|
Definition
Impaired O2 transport and recruitment of compensatory mechanisms
Alterations in Hgb levels and red cell number and appearance
Signs and sxs assoc with the pathologic process that is causing the anemia |
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|
Term
How would you describe morphology changes in RBC?
(2)
|
|
Definition
Anisocytosis: size
poikilocytosis: shape |
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|
Term
ANEMIA:
What are pathologies causing impaired production?
What are pathologies leading to excessive loss/increased destruction? |
|
Definition
What are pathologies causing impaired production?
lack building blocks, stimulators
abnormal genetic code
What are pathologies leading to excessive loss/increased destruction?
Abnormal genetic code
Intravascular
Extravascular |
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Term
What are examples of chronic diseases causing anemia? |
|
Definition
- AIDS
- osteomyelitis
- chronic renal failure
- RA
- sequestering iron in the psleen and contribute to RBC destruction
- lymphocytes release cytokines that suppress erythropoietin production and action
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|
Term
What are causes of hemolytic anemia?
(4) |
|
Definition
Intravascular hemolysis: may be due to transfusion reaction, mechanical injury, toxins
Extravascular hemolysis: when abnormal RBCs are phagocytized in the spoleen as in sick cell anemia
Intrinsic causes may be due to defects in RBC mebranes, hemoglobinapathies, inherited defects
Extrinsic or acquired causs may be due to drugs, bacterial toxins, antibodies, physical trauma |
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|
Term
Name the disease causing excessive loss/increased destruction:
1. autosomal dominant disorder affecting RBC membrane proteins
2. absent or defective synthesis of alpha or the beta hgb chains)
3. Hgb gets denatured
4. abnormal substitution of a single AA valine for glutamic acid |
|
Definition
1. autosomal dominant disorder affecting RBC membrane proteins HEREDITARY SPHEROCYTOSIS
2. absent or defective synthesis of alpha or the beta hgb chains) THALASSEMIA
3. Hgb gets denatured G6PD DEFICIENCY- seen in AA population
4. abnormal substitution of a single AA valine for glutamic acid: SICKLE CELL DISEASE |
|
|
Term
In this inherited hematologic disorder RBCs are vulnearbale to oxidants, hemoglobin is oxidized to methemoglobin, and denatured to form Heinz bodies. |
|
Definition
Glucose-6-Phosphate Deficiency |
|
|
Term
Pt presents saying they feel fature, weakness, dyspnea, palpitations, angina, headache, fainting, visual changes, pallor tachycardia, heart murmur, splenomegaly, jaundice....
What are you thinking? |
|
Definition
|
|
Term
Name the disease:
A proliferative disease of the bone marrow with an absolute increase in total RBC mass with elevated white cell and platelet counts |
|
Definition
|
|
Term
if you noticed the following:
hematocrit >54% in male
Hematocrit > 51% in female
abnormally high total RBC mass
What are you thinking? |
|
Definition
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|
Term
Name the disease.
It is caused by alloantibodies.
Comes from an exogenous source
An antibody produced by a person to an antigen within the same species but that is not present in that person. |
|
Definition
Hemolytic Disease of the newborn: Erythroblastosis fetalis |
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|
Term
Name the two main types of leukocytes and provide examples of each. |
|
Definition
GRANULOCYTES
Neutrophils
Eosinophils
Basophils
AGRANULOCYTES
lymphocytes (lymphoid cell line)
monocytes (myeloid cell line) |
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|
Term
What is the function life span and normal percentage of neutrophils, eosinophils, basophils and lymphocytes? |
|
Definition
Neutrophils
Function:maintain normal host defenses
Life Span: 4-5 days
Normal Percentage: 55-65%
Eosinophils
Function:detoxify agents assoc with allergic reactions
Life Span: not known
Normal Percentage:1-3%
Basophils
Function:role in allergic reactions
Life Span:unknown
Normal Percentage: 0.3-0.5%
Lymphocytes
Function:B-cells differential to form antibody-producing plasma cells, involved in humoral-mediated immunity
T-cells responsibel for orchestrating the immune response and effecting cell-mediated immunity
Life Span:hours to years
Normal Percentage: 20-30%
**maturation sequence: T cells, B cells
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|
Term
What does it mean when you get a CBC with dif and there's a "shift to the left?" |
|
Definition
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|
Term
What is the function, life span and normal pecentages of monocytes? |
|
Definition
Function: phagocytes
Life span: 1-3 days in the circulation; months to years in tissues
Normal percentages: 3-8% |
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|
Term
What is the terms used to describe an increase in WBC vs decrease in WBC? |
|
Definition
Leukopenia: decrease in WBC
Leukocytosis: increase in WBC |
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|
Term
If a pt had chronic infections such as TB, syphillis and leukemia.
What would you expect to see in WBC counts? |
|
Definition
|
|
Term
If you had a patient who had
an invasive parasitic disease
allergic reaction
Hodgkins disease
Leukemia
What would you expect to see on their WBC count? |
|
Definition
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|
Term
A patient with a viral illness or HIV.
What would you abnormality would you expect to see in their WBC count? |
|
Definition
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|
Term
What abnormality would you expect to see on pt's WBC count if they had
drug-induced illness cuasing defective production of a certain WBC and an immune destruction? |
|
Definition
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|
Term
If a patient had chronic myelogenous leukemia,
what type of WBC would you expect to see increased? |
|
Definition
basophils
therefore...basophilia |
|
|
Term
Name the disorder:
Referring to a group of disorders characterized by autonomous proliferation of one or more hematopoietic elements in the bone marrow. In many cases, th eliver and spleen are enlarged.
|
|
Definition
Myeloproliferative disorder |
|
|
Term
Name the disorder.
Plasma cell cancer of the osseous tissue; in the course of its dissemination, may also involve non-osseous sites; characterized by uncontrolled proliferation of an abnormal clone of plasma cells, which secrete primarily IgG or IgA. |
|
Definition
Plasma cell dyscrasias: MULTIPLE MYELOMA |
|
|
Term
What are four different types of leukemia? |
|
Definition
Acute lymphocytic
Chronic lymphocytic
Acute myelogenous (granulocytes, monocytes)
Chronic myelogenous |
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|
Term
People who are exposed to high levels of radiation or beneize or use anti-tumor drugs are susceptible of getting what disease? |
|
Definition
|
|
Term
Name the disease.
Malignant neoplasms coming from the transformation of a single cell line orginally derived from hematopoetic stem cells. |
|
Definition
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|
Term
What are two types of lymphomas? |
|
Definition
Hodgkin's disease
Non-Hodgkin's lymphoma |
|
|
Term
This is a specialized lymphoma characterized by REED-STERNBERG CELLS that begins as a malignancy in a single lymph node and then spreads to contigious lymp nodes. |
|
Definition
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|
Term
This is a group of heterogenous lymphocytic cancers that are multi-centric in orgin and spread to various tissues throughout the body, including the bone marrow; occurs 3x more frequently than Hodgkin's disease. |
|
Definition
Non-Hodgkin's lymphoma
viral cause is suspected
can orginate in T cells or B cells |
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|
Term
Inflammation involves ______ and _______components.
Unlike immune response, there is no _____
Involves ___, ___, ____ |
|
Definition
Inflammation involves vascular and cellular components.
Unlike immune response, there is no memory.
Involves blood vessels, chemical mediators WBC's
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|
Term
What are the four goals of the inflammatory response? |
|
Definition
1. Limit and control injury (inflammation)
2. Prevent further tissue damage.
3. Prepare area of healing.
4. Remove bacteria and dead cells |
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|
Term
What are the five cardinal signs of inflammation?
R, S, H, P, L |
|
Definition
REDNESS
SWELLING
HEAT OR TEMPERATURE
PAIN
LOSS OF FUNCTION |
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|
Term
What are the steps in acute inflammation? |
|
Definition
Initial vasoconstriction at injury site.
Vasodilation of capillaries-slows and increases blood flow to the area. Increases hydrostatic pressure.
capillary permeability increases- leakage of plasma proteins (exudate) causes edema
Tissue oncotic pressure increases
Increased blood flow causes increased warmth and redness |
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|
Term
Explain what is causing the cardinal signs of inflammation when there is injury. |
|
Definition
Constriction of blood vessels followed by vasodilation of arterioles/venules causes congestion, REDNESS, WARMTH
Blood vessels become smore permeable, proteins exit, fluid moves into tissues so you get SWELLING, PAIN and LOSS OF FUNCTION
this helps keep infection localized |
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|
Term
what is the difference between a minor injury, moderate injury and a delayed response? |
|
Definition
Minor injury: immed transient response
Moderate injury: immed sustained response lasts for several days, vessel damage in the area
Delayed response- occurs 4-24 hours later, injury is not noticed right away (sunburn) |
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|
Term
Explain the cellular phase of acute inflammation.
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|
Definition
1. Neutrophils and monocytes move into the area
2. Margination and adhesion: phagocytes adhere to the blood vessel walls
3. Emigration (diapedesis)
Phagocytes slip though blood vessel walls via endothelial junctions
4. Chemotaxis: chemical "perfume" helps attract the leukocytes to the area
5. Phagocytosis
Adherence plus opsonization then ENGULFMENT (intracellular destroying) |
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|
Term
What are the first cells to appear when there's inflammation? |
|
Definition
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|
Term
What is the name of the receptor that is on the surface of cells and their function is to respond to early tissue injury?
It is thought that genetic differences in these receptors is what causes some people to be more susceptible to infections.
What is the receptor? Name examples of cells that bind to the recetors. |
|
Definition
What is the name of the receptor that is on the surface of cells and their function is to respond to early tissue injury? TOLL LIKE RECEPTOR
Name examples of cells that bind to the recetors.
mucosal epthelial cells, mast cells, dendritic cells in skin, neutrophils, macrophages |
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|
Term
What type of cells can divide and survive at inflammation sites?
Which cells CANNOT? |
|
Definition
What type of cells can divide and survive at inflammation sites? macrophages
Which cells CANNOT? neutrophils |
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|
Term
What factors are secreted by the macrophages that help activate other inflammatory cells?
|
|
Definition
granulocyte colonystimulating factor
Gamma interferon
Interleukin 1
Fibroblast activating factor |
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|
Term
This cell produces cytokines suppressing further inflammation and initates healing |
|
Definition
|
|
Term
What three systems of activated by the inflammatory response? |
|
Definition
1. The Complement System
2. The Clotting System
3. The Kinin System |
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|
Term
This system is potent against bacterial infections.
It can destroy pathogens DIRECTLY or assist in killing pathogens.
Opsonization, Degranulation and causes contraction of smooth muscle.
What's the system? |
|
Definition
|
|
Term
What are the three ways the complement system is activated? |
|
Definition
Classical pathway: proteisn of acquired immune system (antigen-antibody)
Lectin pathway- certain bacterial carbohydrates
Alternative pathway- gram neg bacteria and fungal cell wall components |
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|
Term
The following are part of what system:
1. Opsonization
2. Mast Cell Degranulation
3. Leukocyte Chemotaxis
4. Cell Lysis- Enzymes |
|
Definition
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|
Term
Plasma proteins that form a fibrinous mesh at the inflammation site are part of what plasma protein system? |
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Definition
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|
Term
This plasma protein system prevents the spread of the infection, forms a clot, and forms a framework for future healing and repair. |
|
Definition
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|
Term
this plasma protein system works closely with coagulation system.
It works closely with ______.
At low doses it causes ____.
Acts with ___ to induce pain.
Causes smooth muscle cell contraction.
Increases vascular permeability and leukocyte chemotaxis. |
|
Definition
KININ SYSTEM
It works closely with coagulation system.
At low doses it causes VASODILATION.
Acts with PROSTAGLANDINS to induce pain.
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|
Term
Name 5 chemical inflammatory mediators. |
|
Definition
1. histamine/serotonin- causes vessel dilation
2. arachidonic acid metbolites- prostaglandins, leukotrienes, thromboxane A2 (vasoconstriction platelet clumping)
3. Platelet Activating factor- causes platelet aggregation
4. Cytokines
5. Nitric Oxide- smooth muscle relaxation; reduces platelet aggregation and adhesion, helps with phagocytosis |
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|
Term
Name two inflammatory cells. |
|
Definition
Natural killer cells: recognition and elimination of cells infected with viruses.
Platelets: activated several ways, stop bleeding, contain coagulation proteins (fibrinogen), adhesion molecules and growth factors |
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|
Term
Name the cell described.
cellular bags of granules located in loose connective tissue, close to blood vessels and areas exposed to environment- skin, Gi, Resp. |
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Definition
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|
Term
Who activates mast cells? (4) |
|
Definition
Physical injury- heat, trauma, UV light, X-ray
Chemical agents- toxins, bsee stings, snake venom
Immunologic means- antibody-antigen complement
Activation of TLR's-bacteria and viruses |
|
|
Term
This chemical inflammatory mediator is produced by macrophages and monocytes.
It includes
Interleukin 6, 1 beta
Tumor necrosis factor- alpha
interferon gamma
Transforming growth factor TG-beta |
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Definition
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|
Term
CYTOKINES
Diffuse over ____ distances and bind to target cells.
Various activites dependining on target cell.
The majority of cytokines are ___ or ____. |
|
Definition
Diffuse over SHORT distances and bind to target cells.
Various activites dependining on target cell.
The majority of cytokines are INTERLEUKINS or INTERFERONS. |
|
|
Term
Who produces interleukins?
Interferons protect against what type of infections? |
|
Definition
Interleukins produced by macrophages
Interferons protect against viral infections |
|
|
Term
Who secretes TNF alpha?
Increases ___in the liver.
can cause __or ___ in prolonged infection.
Causes ___ of some tumors/ promotes ____ of some tumors. |
|
Definition
Who secretes TNF alpha? macrophages
Increases pro-inflammatory proteins in the liver.
can cause cachexia or muscle wasting in prolonged infection.
Causes necrosis of some tumors/ promotes growth of some tumors. |
|
|
Term
What chemical inflammatory mediator is ued to treat inflammatory diseases such as RA? |
|
Definition
|
|
Term
What composes exudates? (2)
Name four different types. |
|
Definition
Exudates: plasma protein and cell debris.
Serous: watery, low plasma proteins, early or mild inflammation
Fibrinous: more severe inflammation, lungs in pneumonia, thick, sticky fibers
Purulent: large number of leukocytes, bacterial infections, pus, tissues, proteins
Hemorrhagic- bleeding, filled with erythrocytes (blood blister) more severe tissue damage |
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|
Term
Name two things (complications) that can result from inflammation. |
|
Definition
Abscess: localixed area of inflmmation containing purulent exudate.
Ulcers: occur on epithelial tissues liek Gi tract or skin as a result of inflammation or vascular compromise |
|
|
Term
Fever, leukocytosis, increase in circulation of plasma proteins (acute phase reactants) and lympadentis.
THESE ARE ALL ____ SIGNS OF ______. |
|
Definition
THESE ARE ALL SYSTEMIC SIGNS OF INFLAMMATION |
|
|
Term
LOOK AT PAGE 498 in the book
read about fever patho |
|
Definition
|
|
Term
What system is involved in the following:
nonspecific response to mediators released rom injured tissue.
Immunologic response to a specific antigen.
|
|
Definition
|
|
Term
How long do you need to have inflammation to callit chronic? |
|
Definition
at least 2 weeks
can lasts weeks, months or years |
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|
Term
What can form in chronic inflammation?
What is it doing?
____ fuse to form multinucleated gian cells.
Surrounded by _____. |
|
Definition
What can form in chronic inflammation? granulomas
What is it doing? wall off area
Macrophages fuse to form multinucleated giant cells.
Surrounded by lymphocytes. |
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|
Term
What type of diet promotes inflammation? |
|
Definition
a diet higher in OMEGA 6 fatty acids and lower in Omega 3 15:1 |
|
|
Term
What is Omega 3 found in?
What is Omega 6 found in? |
|
Definition
Omega 3:green leafy veg, walnuts, flaxseed, fish oils
Omega 6: various veg oils
**Compete for an enzyme that helps produce anti-inflam PGs |
|
|
Term
What does wound healing begin with?
What is involved? |
|
Definition
Phagocytosis of fibrin, dissolved clots, erythrocytes and dead tissue at the site.
Involves: fillin, seal, shrink the wound |
|
|
Term
What three body cell types are involved in regeneration (wound healing)? |
|
Definition
1. Labile cells: continually divide- surface epithleium, uterine, vaginal tissue, Gi tract
2. Stable cells: stop dividing when growth stops but can regenerate (bone marrow, liver)
3. Permanent or fixed cells- don't undergo mitosis any more- nerve cells, cardiac muscle tissue, skeletal muscle cells once destroyed they're replaced with scar tissue |
|
|
Term
What does this refer to:
collagen that restores structural integrity of the area but does NOT restore physiologic function |
|
Definition
SCAR TISSUE/FORMATIOn
In some cases, scarring can compromise function ie. heart |
|
|
Term
What are two phases of wound healing? |
|
Definition
Reconstruction phase
Maturation Phase |
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|
Term
What cell is involved in reconstruction phase? What is its function?
In ___ days, ____ and in large wounds ____ occurs. |
|
Definition
What cell is involved in reconstruction phase? FIBROBLAST What is its function? synthesize and secrete collagen
In 2-3 days, EPITHELIALIZATION and in large wounds GRANULATION TISSUE occurs. |
|
|
Term
WOUND HEALING:
When does maturation occur? how long can it last?
What do you NEVER regain? |
|
Definition
When does maturation occur? begins 3 weeks after injury
how long can it last? can last 6 mts or longer
What do you NEVER regain? orginial tissue |
|
|
Term
HOW THE WOUND HEALS:
What's the difference between primary and secondary intention? |
|
Definition
Primary: minimal tissue loss, heals by opposition of wound edges (ie. surgical incision)
Secondary:edges of the wound are unable to be opposed; healing will occur with excess trauma or tearing of the skin-ie dog bite. |
|
|
Term
What is the outcome during healing if any of the following occurS:
- inflammatory response
- wound become reinfected
- pts with Dm, immunocompromised
- hypoxemia
- Certain drugs or lack of nutrients (increase need for protein)
- prolonged bleeding- delays healing
- fibrous adhesions form- binds organ together
- Prolonged infection: prolongs inflmmation, increases purulent exudate, excess scar formation
- hypovolema with excess bleeding- bessel constriciton
- NSAIDS, steroids
|
|
Definition
DYSFUNCTIONAL WOUND HEALING |
|
|
Term
When using an NSAID during wound healing...what does it inhibit? |
|
Definition
inhibits fibroblast migration to the wound
impairs angiogenesis, wound contraction and epithelialization |
|
|
Term
ERRORS IN RECONSTRUCTIOn:
Explain the following:
1. Keloids
2. Hypertrophic scar
3. Wound dehiscence
4. Contracture |
|
Definition
1. Keloids: large raised scar extending beyond the margins of the orginal wound; improper collagen formation
2. Hypertrophic scar: raised by stays within boundaries of wound
3. Wound dehiscence: pulling apart at the edges, greates 5-12 days after suturing, often with wound sepsis/excessive strain/obesity may see serous drainage from wound; nees surgical repair
4. Contracture: deformity at the site of the wound; functio laesa (decrease ROM) burns, cirrhosis, duodenal strictures from ulcers healing |
|
|
Term
True or False
EVERY cell in the body contain the same genetic information. |
|
Definition
|
|
Term
What are the four bases making up the alphabet of the genetic code?
What creates a complimentary MRNA copy? |
|
Definition
Adenosine
Cytosine
Guanine
Thymine
What creates a complimentary MRNA copy? Transcription |
|
|
Term
CELL DIVISION:
what are the terms that describes the following:
this cell division occurs in SOMATIC cells; results in the formation of 23 pairs of chromosomes
This cell division is limited to replicating germ cells
Resulst in teh formation of gametes or reproductive cells; each has a single set of 23 chromosomes |
|
Definition
this cell division occurs in SOMATIC cells; results in the formation of 23 pairs of chromosomes MITOSIS
This cell division is limited to replicating germ cells
Resulst in teh formation of gametes or reproductive cells; each has a single set of 23 chromosomes MEIOSIS |
|
|
Term
Explain differences between meiosis and mitosis. |
|
Definition
Mitosis: one division 2 daughter cells; same number of chromosome cells in daughter and parent; somatic cells; throughout life used for growth and repair
MEIOSIS: 2 divisions; 4 daughter cells per cycle; daughter cells genetically different; half number of chromosomes in a daughter vs parent cells; germline cells; in humans, complete after sexual maturity; used for sexual reproduction, new gene combinations |
|
|
Term
Mitosis vs Meiosis:
What has cells that go to the offspring?
|
|
Definition
MEIOSIS: goes to the offspring |
|
|
Term
All males have an __ and ___ sex chromosome.
All females have two __ chromosomes |
|
Definition
All males have an X and Y sex chromosome.
All females have two X chromosomes |
|
|
Term
There are __ pairs of chromosomes alike in males and females.
__ chromosomes make up the 23rd pair, determining sex of person. |
|
Definition
There are 22 pairs of chromoses alike in males and females.
SEX chromosomes make up the 23rd pair, determining sex of person. |
|
|
Term
TRANSMISSION OF GENETIC INFORMATION
What is an allele?
What is a locus?
What is a chromosome? |
|
Definition
What is an allele? alternate forms of a gene; one from each parent
What is a locus? position genes occupy on a chromosome/ location of allele
What is a chromosome? genes are organized in structures |
|
|
Term
The physical manifestation of genetic information. What is the term?
The sum total of genetic information in the cells. What is the term? |
|
Definition
The physical manifestation of genetic information. What is the term? PHENOTYPE
The sum total of genetic information in the cells. What is the term? GENTOTYPE |
|
|
Term
What causes a mutation in the DNA? (3) |
|
Definition
substitution of one base pair for another
The loss or addition of one or more base pairs
The rearrangement of base pairs. |
|
|
Term
TRUE OR FALSE
Mutations in DNA ONLY occur in germ cells. |
|
Definition
FALSE
Mutations may arise in somatic cells OR in germ cells. |
|
|
Term
What gene disorder is caused by a single defective or mutant gene?
It can be present on an autosome or the X chromosome.
It may affect one member or both members of an autosomal gene pair. |
|
Definition
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|
Term
Defects in a single gene disorder are characterized by _______ |
|
Definition
their patterns of transmission and can be obtained througha family genetic history.
Defects follow the Mendelian pattern of inheritance |
|
|
Term
Arrangement of Alleles:
Define homozygotes.
Define heterozygotes. |
|
Definition
Define homozygotes: persons in whome the two alleles of a given pair are the same
Define heterozygotes: persons having different alleles (Aa) at a gene locus |
|
|
Term
GENETIC TRAITS.
Define recessive trait.
Define dominant trait.
Define carrier. |
|
Definition
Define recessive trait: one expressed only in a homozygous pairing.
Define dominant trait: one expressed in eith a homozygous or a heterozygous pairing
Define carrier: a person who is heterozygous for a recessive trait and does NOT manifest the trait. |
|
|
Term
DISORDERS OF SINGLE GENE INHERITANCE.
What does it mean to have an autosomal dominant mutation?
Autosomal recessive mutation?
X-linked recessive mutation? |
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Definition
What does it mean to have an autosomal dominant mutation? a single mutant allele from an affected parent is transmitted to an offspring regardless of sex
Autosomal recessive mutation? manifested only when both members of the gene pair are affected (both parents unaffected, but carriers)
X-linked recessive mutation? always associated with the X chromosome; inheritance pattern is predominantly recessive. |
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Term
AUTOSOMAL DOMINANT SINGLE GENE DISEASES:
1. does it skip generations?
2. What is the recurrence risk?
3. When does it happen? at birth or later in life? |
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Definition
1. does it skip generations? not seen typically
2. What is the recurrence risk? 50%
3. When does it happen? at birth or later in life?
occurs later in life |
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Term
What are four examples of Autosomal Dominanet Single Gene Diseases? |
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Definition
Huntinton's Chorea: atrophy and loss of striatal neurons in the caudate nucleus, putamen and frontal cortex
assoc with triplet of CAg on short arm of chromosome 4
familial hypercholesterolema: mutation in the LDl receptor produce a deficit in receptor abundance, resultin gin increased circulating LDL levels
Marfan's syndrome: a connective tissue disorder manifested by changes in the skeleton, eyes, and cardiovascular system
due to mutation in gene that encodes in fibrillin, a key component of connective tissue
Von Willebrand's disease: platelet adhesion defect |
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Term
What are two examples of AUTOSOMAL RECESSIVE SINGLE GENE DISEASES? |
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Definition
Cystic Fibrosis: most common AR disease, mutation in gene result in absent or abnormal expression of the chloride channel as well as misregulation of a sodium channel
Sick Cell Disease: seen in 1/600 AA births. Caused by mutation in the beta globin gene on chromosome 11, alters the hemoglobin molecule, erythocytes assyme "sickle" shape under condition of low oxygen tension |
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Term
X-Linked (X Chromosome) SINGLE GENE DISEASE:
ONLY on _ chromosomes
ONLY ___ are affected.
is it common to skip a generation?
___ can be carriers, and 50% of __ will have trait/disease. |
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Definition
ONLY on X chromosomes
ONLY MALES are affected.
is it common to skip a generation? YES!!!
FEMALES can be carriers, and 50% of SONS will have trait/disease. |
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Term
What are three examples of X-LINKED Recessive SINGLE GENE DISEASES? |
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Definition
Hemophilia A: Deficiency of clotting factor VIII, a protein that is encoded by a gene on the long arm of the X chromosome
Duchenne muscular dystrophy: mutation in gene that encodes dystrophin, vital muscle protein
Fragile X syndrome: Assoc with a fragile site on teh X chromosome where the chromatin fails to condense during mitosis
Second most common cause of mental retardation after Downs syndrome. |
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Term
Name three causes of chromosomal disorders.
Name 3 examples. |
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Definition
Alterations in chromosome duplication.
Alteration in chromsome number
Trisomy 21
Monosomy X
Polosomy X
Alterations in chromosome structure |
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Term
What happens during cell division in trisomy-21?
What are some signs and symptoms? |
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Definition
Non-dysjunction during meiosis
growth failure
metnal retardation
flat back of head
abnormal ears
pam crease
special skin w ridge pattern
umbilical hernia
diminished muscle tone
big toes widely space
enlarged colon
congenital heart disease
big wrinkled tongue
dental anomalies
broat flat face, slanting eyes, epicanthic eyefold, short nose
Small and arched palate |
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Term
Name the chromosomal disorder.
99% are spontaneously aborted.
Absense of ovaries.
Most common genetic cause of amenorrhea
Webbing of neck.
Lymphedema of the hands and feet. |
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Definition
MONOSOMY X (23)
TURNER SYNDROME (45, X) |
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Term
Name the chromosomal disorder:
Affects males.
due to NON-dysjunction during meiosis.
tall males, normal at brith
Seminiferous tubule dysgensis, gynecomastia.
NOT mentally retarded. |
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Definition
POLYSOMY X: XXY, XXXY
Klinefelter's syndrome (47, XXY) |
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Term
What are environmental influences causing chromosomal disorders?
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Definition
- Teratogenic agents: produce abnormalities during embryonic or fetal development:
- radiation
- Chemical and drugs: fetal alcohol syndrome, cocaine babies, folic acid deficiency
- Infectious agents ie. H. Pylori
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Term
Assessmetn of genetic risk and prognosis
Detailed FHx
Pregn Hx
Detailed accounts of birth process
Accoutn sof postnatal health and development
Physical exam of affected child and family
Lab tests
all the above are part of what assessment? |
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Definition
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Term
What are the five mechanisms of hemostasis? |
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Definition
1. vessel spasm
2. formation of platelet plus
3. blood clot formation
4. clot retraction and fibrous tissue growth
5. clot dissolution |
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Term
What are two abnormalities of hemostasis? |
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Definition
1. Inappropriate clotting within the vascular compartment.
2. Clotting insufficient to stop blood flow from the vascular compartment. |
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Term
VESSEL SPASM
Initiated by ____ spasm.
Result of ___ and ____ mechanisms.
Constricts blood vessel→decreased blood flow
Typically lasts less than a minute, cute can last hours if needed. |
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Definition
VESSEL SPASM
Initiated by endothelial spasm.
Result of humoral and neural mechanisms.
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Term
PLATELET REVIEW
Formed in ____ as cytoplasmic ___ from _______.
Production is under the influence of ______ (hormone.)
It is processed through ___ for about 8 hrs before being released into peripheral circulation
What is the life span?
What are normal counts? |
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Definition
PLATELET REVIEW
Formed in bone marrow as cytoplasmic fragments from megakaryocytes.
Production is under the influence of thrombopoietin (hormone.)
It is processed through spleen for about 8 hrs before being released into peripheral circulation
What is the life span? 7-9 days
What are normal counts?
150,000-400,000/cumm
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Term
PLATELET CHARACTERISTICS:
What factor is required to activate platelets?
What charge does a circulating platelet have before it's activated? |
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Definition
What factor is required to activate platelets? Von Willebrand Factor
What charge does a circulating platelet have before it's activated?
Negatively charged
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Term
What happens during platelet plus formation? |
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Definition
Platelets contact injured vessel wall
-negative charge of cessel wall is lost, so the negatively charged plateltes adhere to the surface
Platelets become activated
upon activation, platelet surface becomes spiny, exposing surface receptors
Platelet functions
adherence and aggregation |
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Term
Von Willebrand factor circulates attached to what factor? |
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Definition
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Term
what are two functions of platelets? |
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Definition
adherence/adhesion
aggregation: form meshwork under influence of ADP, platelet activating factors such as thromboxane A and thrombin |
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Term
CLINICAL NOTE:
Platelet deficiencies in number and/or function cause what? |
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Definition
increased capillary permeability resulting in
1. small skin/mucous membrane hemorrhages known as petechiae/purpura/ecchymosis |
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Term
BLOOD CLOT FORMATION
Production of _____ fibrin.
occurs via _____ and ___ pathways.
Requires activation and consumption of _____. |
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Definition
Production of insoluble fibrin.
occurs via extrinsic and intrinsic pathways.
Requires activation and consumption of coagulation factors.
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Term
COAGULATION FACTORS
Procoagulants:
Factors I-VIII circulate in the blood in ____ form.
All factors are made in the ____ except factor ____.
Factors __, ___, ___, ____ are Vitamin K dependent for formation (as well as Protein __) |
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Definition
Procoagulants:
Factors I-VIII circulate in the blood in inactive form.
All factors are made in the liver except factor VIII.
Factors II, VII, IX, X are Vitamin K dependent for formation (as well as Protein C)
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Term
COAG FACTORS
Factor I →
Factor II →
Factor III →
Factor IV → |
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Definition
Factor I → FIBRINOGEN
Factor II → PROTHROMBIN
Factor III → TISSUE THROMBOPLASTIN
Factor IV →CALCIUM
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Term
Name four examples of anticoagulants found in the blood |
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Definition
Antithrombin III
heparin
alpha2 macroglobulin
protein C |
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Term
What are the three stages of blood clot formation? |
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Definition
Stage I: formation of prothrombin activator
Stage 2: conversion of prothrombin to thrombin
Stage 3: conversion of fibrinogen to fibrin |
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Term
What's the difference between extrinsic and intrinsic blood clot formation? |
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Definition
Extrinsic: vascular wall and/or extravascular tissues damaged/traumatixed which causes release of tissue thromboplastin factor, activation of Factor X (you get cleaving of prothrombin to thrombin, mechanism accelerated with Factor V) and formation of prothrombin activator
Intrinsic: blood trauma or exposure of blood to vascular wall collagen causes
activation of Factor XII and release of vWF, TXA2 and ADP
Facors XI, IX, VII (w Ca) activation leds to activation of Factors X and V
Prothrombin activator formed
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Term
What test is used to measure the extrinsic pathway?
What test is used to measure the intrinsic pathway? |
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Definition
What test is used to measure the extrinsic pathway?
Prothrombin Time
**WARFARIN
What test is used to measure the intrinsic pathway?
aPTT/PTT
unfractionated heparin
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Term
What is the end product of both the extrinsic and intrinsic pathway?
This new activator allows for what? |
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Definition
What is the end product of both the extrinsic and intrinsic pathway?
Prothrombin activator
This new activator allows for what?
Prothrombin (Factor II) is converted to Thrombin under the influence of
Factors V, VII, X and Ca
Prothrombin attaches to receptors on the platelets that have bound to the damaged tissues.
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Term
CLINICAL NOTE:
Where is prothrombin formed?
What does it require for normal formation of Factor II?
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Definition
Where is prothrombin formed? LIVER
What does it require for normal formation of Factor II?
requires Vit K
if no Vitamin K and/or severe liver disease causes decreased levels of prothrombin and results in bleeding via a coagulation defect.
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Term
antigen antibody reactions
some drugs and venoms
circulating cellular debris
retained placental fragments
...all of the above could cause what? (related to coagulation) |
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Definition
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Term
What is the mechanism of DIC? |
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Definition
Consumptive coagulopathy
-platelets, coagulation factors get depleted because coagulation sequence is activated
-High mortality |
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Term
Meshwork of fibrin fibers, RBC's, platelets and plasma
...these are all part components of what?
What is the function? |
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Definition
BLOOD CLOT
Function: vascular wall attachment of blood clot at site of injury/damage prevents blood loss |
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Term
What is required for clot dissolution? |
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Definition
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Term
Name two natural anticoagulants. |
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Definition
Protein C- inactivates V and VIII
Heparin- combines with anti-thrombin III cofactor to suppress the fibrin formation |
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Term
antiphospholipd syndrome
increased platelet function (ie. atherosclerosis, smoking)
accelerated activation of coagulation system (ie. elevated estrogens, OCP's, malignant disease, post surgery)
all of these could cause what type of state? |
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Definition
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Term
_____ Disorder
Caused by vascular integrity (damaged/weak vessels)
Evidenced by purpura, petechiae
Examples:
Vit C deficiency
Hemorrhagic telangiectasia (Weber Osler Rendu)
Cushin's disease |
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Definition
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Term
Name some drugs that can cause platelet abnormalities leading to bleeding disorders. |
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Definition
heparin
quinine, quinidine
sulfa, penicillin
cephalosporin |
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Term
What is the word for "abnormal platelet function?"
Name four causes. |
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Definition
thrombocytopathia
Causes:
Von Willebrand's disease
ASA
NSAID
Uremia |
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Term
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Definition
Aspirin
Warfarin: reverse effects with Vit K and fresh frozen plasma admin
Heparin: reverse effects with Protamine sulfate |
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Term
What are examples (2) of congenital blood clotting defects and (2) acquired blood clotting defects? |
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Definition
Congential
Hemophilia A
Christmas Disease
Acquired
Liver disease
Vit K deficiency |
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Term
Name 4 complications of a DIC. |
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Definition
Exsanguination
Cardiovascular shock
multiple organ failure
death |
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Term
Four phases of cell cycle. |
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Definition
M phasE: replicated chromosomes separate and form two nucli by mitosis and cytoplasm divides between two nuclei by mitosis and cytoplasm divides btw to two cells by cytokinesis
G1 (gap 1) growth period when cell determines if its ready to commit to DNA synthesis
S (DAN synthesis) period during which genetic material replicated
G2 (gap 2): period during which DNA replication is checked and errors are corrected |
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Term
What are the two main features that define cancer? |
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Definition
cell growth is not regulated by external signals
cells have the ability to invade tissues |
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Term
CANCER:
What's the difference between invasion and metastasis? |
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Definition
invasions: goes to neigboring tissues
Metastasis: goes to lymph nodes, blood vessels and distant sites |
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Term
What are the two exclusive pathways for cell division? |
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Definition
divide and differentiate
divide: ie stem cells
differeniate: no longer able to divide |
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Term
Explain the steps of the cell cycle. |
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Definition
G1: cell decides if ready for DNA synthesis
M: DNA replication occurs
G2: cell checks itself for accuracy and repairs errors
M phase: chromosomes replicate and divide via mitosis AS WELL as division of the cytoplasms via cytokinesis |
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Term
GENETIC BASIS OF CANCER
Most cancers originate from a _____ cell.
Most mutations occur in ____ cells (_%)
Minority of cancers are ____ (_%) |
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Definition
GENETIC BASIS OF CANCER
Most cancers originate from a single cell.
Most mutations occur in somatic cells (80%)
Minority of cancers are inheritable (20%)
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Term
Give three examples of what can cause mutations in somatic cells. |
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Definition
1. Errors in DNA replication
2. Induced carcinogen exposure
3. Requires multiple genetic lesions |
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Term
Majority of _____ mutations are _____ and most are due to _____
CML is due to _______ |
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Definition
Majority of somatic mutations are dominant and most are due to translocations
CML is due to Philadelphia Chromosome
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Term
Germline mutations tend to affect ____ genes |
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Definition
Germline mutations tend to affect tumor suppressor genes
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Term
Radiation, tobacco, smoke, chemicals, asbestos, viruses are all examples of... |
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Definition
carcinogens
able to damage genome or disrupt cellular metabolic processes |
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Term
Name the gene:
genes that promote normal cell growth and can be converted to oncogenes through mutations or increased expression.
EXAMPLES: RAS, WNT, MYC, ERK, TRK |
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Definition
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Term
Name the gene: genes that when mutated or expressed at high levels assist in turning normal cells in tumor cells. |
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Definition
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Term
Name the gene:
usually restrain growth with unregulated cell growth occurring when they malfunction. |
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Definition
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Term
Name four classifications of oncogenes. |
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Definition
- growth factors
- receptor tyrosine kinases
- cytoplasmic tyrosine kinases
- cytoplasmic serine/threonin kinase
- regulatory GTPases
- Transcription factors
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Term
50% of adult cancers have to with ____ |
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Definition
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Term
This is a protein subfamily of small GTPases which function as on/off switches.
Involved in cellular signal transduction
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Definition
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Term
This gene encodes for transcription factor.
Regulates expression of 15% of all genes.
Involved in Burkitt Lymphoma. |
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Definition
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Term
What is causing the following to occur to cells?
altered morphology
loss of contact inhibition
ability to grow without attachment
ability to proliferate indefinitely
reduced need for growth factors
high saturation density
inability to halt proliferation in response to deprivation of growth factors
increased glucose transport
tumorigenicity |
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Definition
Viral transformation of cells |
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Term
Name the gene:
Ex of tumor suppressor gene
Dominant inheritance
germline mutation causes loss of function of one allele on chromosome 13
occasional sporadic cases are unilateral and caused by somatic mutations of both __ alleles. |
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Definition
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Term
This tumor suppressor gene can cause sarcomas, brain tumors, leukemia.
What syndrome is associated with the gene?
this video may help you remember it:
http://www.youtube.com/watch?v=PMe_w_EOasU |
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Definition
Tumor Suppressor Gene p53
Li Fraumeni syndrome |
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Term
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Definition
HNPCC: hereditary nonpolyposis colon cancer
conol cnacer in three or more individuals over at least 2 generations
-at least one dividual under age 50
-about 1/200 individuals have HNPCC |
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Term
What is the relationship of apoptosis and cancer?
Loss of what gene can cause apoptosis to go haywire? |
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Definition
Tumors evolve ways to inhibit or disable apoptosis
Loss of p53 tumor suppressor gene |
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Term
What do tumors require to receive adequate supply of oxygen, nutrients and removal of waste products?
What can you do to treat several solid tumors? (medication) |
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Definition
Cancer needs adequare blood supply so you need to stop angiogenesis
Bevacizumab is a monoclonal antibody against VEGF and used in tx of several solid tumors |
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Term
What am i describing?
molecular or tissue based assay beyond routine clinical, radiographic or pathologic examination which predicts future behavior of cancer.
How are they measured?
Identified where? (4) |
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Definition
Biomarkers
Measured: DNA, RNA, protein, cell tissue
Identified in tumor tissue, lymph nodes, distant sites or blood |
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Term
What are 6 potential uses for tumor markers? |
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Definition
Risk determination (screening/prevention)
Screening (early detection)
Differential diagnosis (B-HCG, Alpha fetal protein for germ cell tumors)
Prognosis: risk of invasion and metasttasis
Prediction: how patient will respond to given therapy
Monitoring: CEA, CA 125, PSA |
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Term
name the biomarker:
Proto-oncogene important in breast cancer.
Prognostically signals a more aggressive cancer.
How is it measured?
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Definition
name the biomarker: HER 2
How is it measured? Immunohistochemistry or FISH (fluorescent in situ hybridization)
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Term
Name 3 tumor markers for Breast Cancer.
Name one tumor maker for colorectal cancer.
Name one tumor maker for Pancreatic cancer.
**YOU DON'T DIAGNOSE WITH THESE; JUST GOOD FOR MONITORING! |
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Definition
Name 3 tumor markers for Breast Cancer.
Estrogen and Progesterone receptors
Tissue HER2
CA 15-3 and CA 27.29
Name one tumor maker for colorectal cancer.
CEA used for monitoring Stage II, III, IV
Name one tumor maker for Pancreatic cancer.
CA 19-9 monitoring
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