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391 Cards in this Set
- Front
- Back
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What is hypetrophy?
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increaes in SIZE of an organ, due to increase in SIZE of cells
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Examples of hypertrophy (2)
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1 = increase in skeletal mm. mass with exercise
2 = hypertrophy of LV in hypertensive disease |
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What is hyperplasia?
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increase in SIZE of an organ, due to increase in NUMBER of cells
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Example of hyperplasia
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glandular proliferation in breast during pregnancy
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What is aplasia?
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failure of cell production
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during fetal development, aplasia results in (1) aka. (2)
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1 = agenesis
2 = absence of organ due to failure of production |
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What is hypoplasia?
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decrease in cell production
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Example of hypoplasia?
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partial lack of growth or maturation of gonadal structures i.e. Turners, Klinefelters
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What is atrophy?
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decrease in size of an organ/tissue due to decrease in mass of pre-existing cells
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Causal Factors of atrophy (5)
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disuse
lack of O2/nutritional factors denervation diminished endocrine stimulation aging |
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Characteristic feature of atrophy?
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autophagic granules
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What is metaplasia?
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replacement of one differentiated tissue by another
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What is squamous metaplasia?
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replacement of columnar epithelium by squamous epithelium
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Where is squamous metaplasia commonly seen? (4)
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- cervical junction with vagina
- respiratory epithelium of bronchi - enodmetrium - pancreatic ducts |
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Is squamous metaplasia reversible or irreversible?
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reversible
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what is osseus metaplasia?
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formation of new bone at sites of tissue injury
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what is myeloid metaplasia?
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proliferation of hematopoetic tissue at sites other than the bone marrow, commonly in liver/spleen
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Causes of Hypoxic Cell Injury (5)
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1 = ischemia
2 = anemia 3 = CO poisoning 4 = poor perfusion 5 = poor oxygenation of blood |
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What does hypoxic cell injury first affect?
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mitochondria -> decreased OX PHOS and ATP synthesis
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What is hydropic change? (1)
What is it characterized by? (2) |
1 = cellular swelling
2 = large intracellular vacuoles |
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What is the first ultrastructural change evident in reversible cell injury?
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swelling of ER
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What is high-amplitude swelling of mitochondria characterized by?
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dilation of inner mitochondrial space
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Acidification, due to lactic acid, causes (1)
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1 = reversible clumping of nuclear chromatin
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Reversible morphological signs of hypoxic damage include (2)
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1 = myelin figures
2 = cell blebs |
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Hypoxic injury becomes irreversible after (1) min in neurons, (2) time for myocardial cells and hepatocytes and (3) for skeletal mm.
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1 = 3-5 minutes
2 = 1-2 hours 3 = many hours |
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Which neurons are most susceptible to hypoxic injury? (2)
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1 = purkinje cells of cerebellum
2 = hippcampal neurons |
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Mechanisms that generate free radicals (6)
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1 = normal metabolism
2 = oxygen toxicity 3 = ionizing radiation 4 = UV radiation 5 = drugs/chemicals 6 = reperfusion after ischemic injury |
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Mechanism of Coagulative Necrosis
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interruption of blood supply --> results in denaturation of proteins
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Where does coagulative necrosis occur?
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organs supplied by end arteries with no collateral circulation i.e. heart, kidney
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pathologic changes in coagulative necrosis (2)
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1 = nuclear changes
2 = increased cytoplasmic binding of acidophilic dyes |
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Mechanism of Liquefactive Necrosis
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enzymatic liquefaction of necrotic tissue -> initially caused by interruption of blood supply
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Where does liquefactive necrosis occur? (2)
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1 = CNS
2 = areas of bacterial infection |
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Pathologic changes in liquefactive necrosis (1)
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necrotic tissue soft and liquefied
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Caseuous necrosis shares features with (1) and (2) necrosis
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1 = coagulative
2 = liquefactive |
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Caseuous necrosis most commonly seen in (1)
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1 = tuberculous granulomas
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Caseuous necrosis:
architecture is (1) but tissue is (2); gross appearance is (3); histologic appearance is (4) and tissue has increase affinity for (5) |
1 = not preserved
2 = not liquefied 3 = soft and cheese-like 4 = amorphous 5 = acidophillic dyes |
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Mechanism of gangrenous necrosis
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interruption of blood supply to a lower extremity or the bowel
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4 nuclear changes characteristic for irreversible cell injury/necrosis
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1. pyknosis
2. karyorrhexis 3. karylolysis 4. disappearance of stainable nuclei |
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pyknosis
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chromatin clumping and shrinking with increased basophilia
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karyorrehexis
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fragmentation of chromatin
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karyolysis
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fading of chromatin material
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mechanism of fibrinoid necrosis
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deposition of fibrin-like proteinaceous material in walls of arteries
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fibrinoid necrosis is often observed as part of (1)
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immune mediated vasculitis
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pathologic changes in fibrinoid necrosis
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1 = smudgy appearance in vascular walls
2 - necrosis may or may not be present |
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mechanism of fat necrosis (2)
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1 = liberation of pancreatic enzymes with autodigestion of pancreatic parenchyma
2 = trauma to fat cells |
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pathologic changes in fat necrosis (5)
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1 = necrotic fat cells
2 = inflammation 3 = hemorrhage 4 = calcium soap formation 5 = lipid laden macrophages in pancreas |
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liquefaction is caused by: (1)
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autolysis
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wet gangrene
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complicated by infective heterolysis -> with consequent liquefactive necrosis
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dry gangrene
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primary coagulative necrosis without liquefaction
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what are the activating caspases?
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8 and 9
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what are the terminal (executioner) caspases?
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3 and 6
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what are the activating caspases?
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8 and 9
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bcl2
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inhibits apoptosis
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bax
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facilitates apoptosis
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definition of fatty change
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accumulation of intracellular parenchymal triglycerides
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bax
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facilitates apoptosis
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fatty change most commonly occurs in (1), (2) and (3)
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1 = heart
2 = liver 3 = kidney |
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p53
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decreases txn of bcl2 and increases txn of bax --> facilitates apoptosis
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Fatty change can be caused by : (4)
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1 = increased transport of TGs and FAs into cells
2 = decreased mobilization of fat from cells 3 = decreased use of fat by cells 4 = overproduction of fat in cells |
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definition of hyaline change
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homogenous, glassy, eosinophillic appearance in H&E stains
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what causes hyaline change
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nonspecific accumulations of proteinaceous material
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hemisiderosis
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accumulation of hemosiderin, within tissue macrophages
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Fatty change can be caused by : (4)
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1 = increased transport of TGs and FAs into cells
2 = decreased mobilization of fat from cells 3 = decreased use of fat by cells 4 = overproduction of fat in cells |
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hemosiderin
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iron containing pigment
aggregates of ferritin golden brown amorphous aggregates |
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definition of hyaline change
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homogenous, glassy, eosinophillic appearance in H&E stains
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what causes hyaline change
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nonspecific accumulations of proteinaceous material
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hemosiderin has positive staining reaction with (1)
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Prussian blue dye
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hemochromatosis
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extensive accumulation of hemosiderin within parenchymal cells with tissue damage, scarring and organ dysfunction
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hereditary hemochromatosis caused by mutation in (1)
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Hfe gene on Xm 6
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triad found in hereditary hemochromatosis (3) aka (4)
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1 = micronodular cirrhosis
2 = diabetes 3 = skin pigmentation 4 = bronze diabetes |
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what is brown atrophy?
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lipofuscin accumulation with subsequent organ atrophy
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lab abnormalities in hereditary hemachromatosis (2)
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1 = increased serum iron
2 = decreased total iron binding capacity --> results in marked elevation of serum transferring conc. |
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what is the main cause of secondary hemochromatosis?
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multiple blood transfusions
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What is lipofuscin?
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end product of lipid peroxidation (yellow, fat soluble pigment)
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What causes metastatic calcification?
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hypercalcemia
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Hypercalcemia most often results from? (4)
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1 = hyperparathyroidism
2 = osteolytic tumors 3 = too much vit D 4 = excess calcium intake |
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What is dystrophic calcification?
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defined as calcification in previously damaged tissues
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Examples where dystrophic calcification occurs...
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areas of old trauma
tuberculosis lesions scarred heart valves atherosclerotic lesions |
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the serum calcium level is (1) in dystrophic calcification
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normal
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5 Cardinal Signs of Inflammation
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rubor (Redness)
dolor (pain) calor (heat) tumor (swelling) loss of function |
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What is rubor caused by?
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dilation of arterioles
--> caused by HISTAMINE |
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What is dolor (pain) caused by?
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increased pressure exerted by accumulation of interstitial fluid
--> caused by BRADYKININ and PGE2 |
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What is calor (heat) caused by?
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increased blood flow, due to vasodilation ---> caused by HISTAMINE
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What is tumor (Swelling) caused by?
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swelling due to extravascular accumulation of fluid --> HISTAMINE causes increase in permeability of venules
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What are selectins? (1)
- they are induced by (2) and (3) |
1 = adhesion molecules important in acute inflammation
2 = IL1 3 = TNFa |
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L-selectins
- expressed on (1) - bind to (2) |
1 - neutrophils
2 - endothelial mucin-like molecules ex. GlyCam1 |
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E and P selectins
- expressed on (1) - bind to (2) |
1 - endothelial cells
2 - oligosaccharides such as sialyl Lewis X on surface of leukocytes |
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P selectins
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stored in endothelial Weibel-Palade bodies AND platelet alpha granules
--> relocate to PM after HISTAMINE and THROMBIN |
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immunoglobulin family adhesion proteins
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ex: ICAM1/2, VCAM
- expressed on endothelial cells - bind to leukocyte integrins |
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integrins
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ex: LFA1, MAC1, VLA4
- present on leukocyte - bind to ICAMs/VCAMs |
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neutrophils
- present in inflammation when? (1) - released from ? (2) - causes of neutrophilia? (3) and (4) |
1 = first 24 hours of acute inflammation
2 = postmitotic reserve pool in bone marrow 3 = bacterial infection 4 = inflammation |
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when are monocytes/macrophages present in acute inflammation?
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after 2-3 daysw
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causes of monocytosis (4)
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tuberculosis
brucellosis typhus salmonella infection |
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lymphocytes
- prominent during (1) - most prominent cells in (2) |
1 = viral infections
2 = chronic inflammation |
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Causes of lymphocytosis
- viral (4) - bacterial (2) |
viral:
influenza mumps rubella mononucleosis bacterial: whooping cough tuberculosis |
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eosinophils
- predominant during (1) and (2) |
1 = allergic reactions
2 = parasitic infections |
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causes of eosinophilia (3)
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allergies --> asthma, hay fever, hives, parasitic infections
polyarteritis nodosa Hodgkin lymphoma |
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mast cells/basophils
- release (1) - causes of basophilia (2) |
1 = histamine
2 = chronic myelogenous leukemia and other myeloproliferative diseases |
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steps in emigration of leukocytes (5)
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margination
pavementation rolling adhesion transmigration |
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margination and pavementing
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leukocytes line endothelial surface
-> adhesion molecule synthesis |
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rolling
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endothelial selectins loosely bind leukocytes -> bind, then blood flow pushes them further, bind again etc
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adhesion
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leukocytes firmly adhere to surface
--> via ICAMs/VCAMS binding to integrins |
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transmigration
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movement of leukocytes across endothelium
-- mediated by platelet endothelial cell adhesion - neutrophils secrete type IV collagenase |
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chemotaxis
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movement of leukocytes occurs along a chemical gradient -> toward factors produced at site of injury
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chemotactic factors for neutrophils (5)
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formylated peptides - E.coli bacteria products
C5a LTB4/HETE = leukotrienes kallikrein fibrinogen - plasma protein |
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what is opsonization?
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coating of particulate material by substances called opsonins, which immobilize the particles on surface of phagocyte
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what are the most important opsonins? (2)
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IgG
C3a |
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Bruton's agammaglobinemia
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- XR disorder
- all immunoglobulins missing, incl. IgG - no IgG = cannot opsonize bacteria - die from infection |
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what is the most potent bactericidal mechanism?
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myeloperoxidase-halide system of bacterial killing
- O2 dependent |
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Major action of histamine in acute inflammation
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increase in capillary permeability by contraction of endothelial cells in post-capillary venules
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Histamine is released by ? (3)
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basophils
mast cells platelets |
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What causes release of histamine from basophils/mast cells? (5)
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1. binding of antigen to IgE
2. binding of C3a and C5a to specific cell surface R. on cells 3. physical stimuli (heat/cold) 4. IL1 5. substances released from neutrophils, monocytes and platelets |
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What causes release of histamine from platelets? (1)
- which can be triggered by (3) |
1 - platelet aggregation
1. endothelial injury 2. thrombosis 3. platelet activating factor |
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PAF aka (1)
- derived from granules of (6) |
1. acetyl-glyceryl-ether-phosphorylcholine (AGEPC)
1. basophils 2. mast cells 3. endothelial cells 4. macrophages 5. neutrophils 6. eosinophils |
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5HT
- released from (1) - actions (2) and (3) |
1 - platelets
2 - vasodilation 3 - increased vascular permeability |
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Platelet TXA2
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vasoconstrictor
platelet aggregation |
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endothelial PGI2 (prostacyclin)
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vasodilator
inhibitor of platelet aggregation |
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5-HPETE gives rise to (4)
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1 - HETE = chemotactic factor for neutrophils
2 - LTB4 = chemotactic factor 3 - slow reacting susbtance of anaphylaxis (LTC4, LTD4, LTE4) = vasoconstriction, broncoconstriction, increased capillary permeability 4 - lipoxins (LXA4, LXB4) = inhibit neutrophils/eosinophils, activate monocyte/macrophages |
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steps in emigration of leukocytes (5)
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margination
pavementation rolling adhesion transmigration |
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margination and pavementing
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leukocytes line endothelial surface
-> adhesion molecule synthesis |
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rolling
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endothelial selectins loosely bind leukocytes -> bind, then blood flow pushes them further, bind again etc
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adhesion
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leukocytes firmly adhere to surface
--> via ICAMs/VCAMS binding to integrins |
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transmigration
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movement of leukocytes across endothelium
-- mediated by platelet endothelial cell adhesion - neutrophils secrete type IV collagenase |
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chemotaxis
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movement of leukocytes occurs along a chemical gradient -> toward factors produced at site of injury
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chemotactic factors for neutrophils (5)
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formylated peptides - E.coli bacteria products
C5a LTB4/HETE = leukotrienes kallikrein fibrinogen - plasma protein |
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what is opsonization?
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coating of particulate material by substances called opsonins, which immobilize the particles on surface of phagocyte
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what are the most important opsonins? (2)
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IgG
C3a |
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Bruton's agammaglobinemia
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- XR disorder
- all immunoglobulins missing, incl. IgG - no IgG = cannot opsonize bacteria - die from infection |
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IL1 and TNF induce acute phase responses such as: (5)
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1 - systemic effects i.e. fever, luekocytosis
2 - hepatic synthesis of acute phase proteins i.e. CRP 3 - synthesis of adhesion molecules 4 - neutrophil degranulation 5 - promote thrombosis |
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kinin system
- activated by (1) - (1) also activates (2), (3) and (4) |
1 - Hageman factor XIIa
2 - intrinsic pathway of coagulation 3= plasminogen (fibrinolytic) pathway 4 = complement pathway |
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functions of C3a and C5a (3)
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1 - release of histamine from mast cells and basophils and platelets
2 - expression of adhesion molecules 3 - activates lipoxygenase pathway |
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C3b is an (1)
C5b-9 is (2) |
1 = opsonin
2 - membrane attack complex --> lytic agent for bacterial cells |
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NO stimulates (1) and inhibits (2)
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1 = relaxation of smooth mm -> vasodilation
2 = inhibits platelet aggregation |
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Chronic Granulomatous disease of childhood
- mechanism? (1) - deficient (2) - can kill (3) but not (4) |
1 = x-linked recessive
2 = deficient NADPH oxidase -> no peroxide made 3 = catalase negative i.e. strep 4 = catalase positive i.e. staph |
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myeloperoxidase deficiency increases susceptibility to what infections?
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candida albicans
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Chediak-Higashi syndrome
- mechanism (1) - characterized by: (2), (3), (4) and (5) |
1 - autosomal recessive
2 - neutropenia 3 - albinism 4 - cranial and peripheral neuropathy 5 - repeated infections |
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abnormal WBCs in Chediak-Higashi syndrome are characterized by (2)
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1 = abnormal MT formation affecting movement
2 = large cytoplasmic granules in granulocytes, lymphocytes and monocytes |
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LAD type 1 deficiency
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recurrent bacterial infections
deficiency in B2-integrins |
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LAD type 2 deficiency
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recurrent bacterial infections
mutation in gene coding for lucosyltransferase, which is required for synthesis of sialyl-Lewis X on neutrophils |
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What is aneuploidy?
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Xm number that is not 23
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Nondisjunction
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failure of Xm's to seperate during meiosis or mitosis
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meiotic nondisjunction is
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most common cause of aneuploidy
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anaphase lag (1)
- can result in (2) |
1 - loss of a Xm during meiotic or mitotic division
2- mosaicism |
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mosaicism
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individual develops 2 lines of cells, one w/ normal Xm complement and another w/ monosomy i.e. a single residual Xm
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p is the (1) arm
q is the (2) arm |
p = short arm
q = long arm |
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inversion
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reunion of a Xm broken at two points, in which the internal fragment is reinserted in an inverted position
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translocation
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exchange of Xmal segments b/w non homologous Xms (denoted by a t)
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reciprocal or balanced translocation
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break in two Xms leading to an exchange of Xmal material
no genetic material is lost = clinically silent |
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robertsonian translocation
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long arms of 2 acrocentric Xms are joined w/ a common centromere and short arms are lost
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isochrome formation
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result of transverse rather than longitudinal division of Xm --> each consists of either two long arms or two short arms
the short armed Xm is usually lost |
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lyonization
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X inactivation
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barr bodies, aka (1), represent (2)
what are they made of? (3) number of barr bodies is always (4) |
1 = sex chromatin
2 = inactivated X chromosome 3 = clumps of chromatin in interphase nuclei of all somatic cells in females 4 = one less than number of X chromosomes |
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X inactivation
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all X chromosomes except one are randomly inactivated at an early embryonic stage --> maternal X or paternal X may be active
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XIST
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X inactive specific transcript
--> large untranslated RNA molecule that is associated w/ coating and inactivating one of the two X chromosomes |
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Causes of Down's syndrome
a. (1) = (2) % = maternal age? (3) b. (4) = (5) % = maternal age? (6) |
1 = maternal meiotic nondisjunction
2 = 95 % 3 = risk increases w/ maternal age 4 = translocation 5 = 5% 6 = no relation to maternal age BUT if a familial form, w/ sig risk in next children |
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Characteristics of Down's Syndrome (5)
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1. mental retardation
2. epicanthal folds and wide spaced eyes 3. Brushfield spots 4. simian crease 5. wide space b/w first and second toes |
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Brushfield spots
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- characteristic in Down's
- small white spots on periphery of iris |
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Complications of Down's Syndrome (4)
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1 - congenital heart disease i.e. endocardial cushion defect
2 - increased risk of acute lymphoblastic leukemia 3 - increased susceptibility to infection 4 - changes in brain similar to Alzheimers |
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Maternal Screening for Down's
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triple screen
1. low a-fetoprotein 2. high hCG 3. low unconjugated estriol |
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Cri du Chat syndrome
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deletion of short arm of chromosoma 5
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Characteristics of Cri du Chat syndrome
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1. severe mental retardation
2. microcephaly 3. unusual cat like cry |
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DiGeorge Syndrome aka. (1) and (2) caused by (3)
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1. velocardiofacial syndrome
2. CATCH 22 syndrome 3. microdeletion of 22q11 |
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CATCH 22
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C - cardiac abnormalities
A - abnormal facies T - T cell deficit bc of thymic hypoplasia C - cleft palate H - hypocalcemia |
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CATCH 22 syndrome may also be related to...
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behavior disorders and psychosis (bipolar disorder and schizophrenia)
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Klinefelter's Syndrome
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47, XXY
male hypogonadism |
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Characteristics of Klinefelter's (5)
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1. male phenotype w/ atrophic testes
2. tall stature 3. gynecomastia 4. decreased T, increased LH/FSH 5. male infertility |
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Klinfelter's is caused by....
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maternal meiotic non-disjunction
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XYY syndrome is increased in frequency among...
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criminals w/ violent behavior
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Turner Syndrome
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45, XO
female hypogonadism auto-antibody mediated hypothyroidism |
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Characteristics of Turner Syndrome (7)
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1. fibrous streaks in ovaries
2. decreased E, increased LH/FSH 3. infantile genitalia, poor breast dev 4. short stature/webbed neck 5. lymphedema of extremities and neck 6. coarctation of aorta 7. primary amenorrhea |
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Fragile X is caused by....
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cytogenetically demonstrable defect on long arm of X chromosome that leads to its breakage
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Fragile X is associated with...
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increased number of CGG tandem repeats in 5' UTR of FMR1 gene
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Fragile X effects in ....
sons (1) daughters (2) |
1. bilaateral marco-orchidism
mental retardation --> passes it to all of daughters 2. mental retardation only in 50% |
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explanation of genomic imprinting
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differential expression of genes based on whether they are maternal or paternal in origin
--> due to differing levels of DNA methylation in female/male gonads |
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deletion in Prader-Willi and Angelman syndrome
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del (15)(q11q13)
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Prader-Willi syndrome
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microdeletion on paternal Xm
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Angelman syndrome
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microdeleltion on maternal Xm
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characteristics of Prader-Willi syndrome (4)
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1. hypogonadism
2. hypotonia 3. mental retardation 4. uncontrolled appetite = obesity/diabetes |
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characteristics of Angelman syndrome
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1. mental retardation
2. ataxia 3. seizures 4. inappropriate laughter |
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adult polycystic kidney disease
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autosomal dominant disorder
--> numerous bilateral cysts that ultimately destroy renal parenchyma |
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familial hypercholesterolemia
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AD defect in LDL-R
--> decreased transport of LDL cholesterol into cells |
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characteristics of familial hypercholesterolemia (2)
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1. high cholesterol = atherosclerosis
2. xanthomas - in skin /tendons |
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hereditary hemorrhagic telangectasia is a (1) disorder; aka (2) w/ increased frequency in (3); characterized by (4)
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1 = AD
2 = Osler-Weber-Rendu syndrome 3 = mormons in utah 4 = telangiectases of skin/mucous membranes |
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hereditary spherocytosis
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AD disorder
--> inherited defects of RBC mb-associated skeletal proteins --> result = hemolytic anemia |
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Marfan Syndrome
- inheritnce? (1) - defect? (2) |
1 = autosomal dominant
2 = defect in CT characterized by faulty scaffolding --> deficiency in fibrillin |
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Characteristics of Marfan syndrome (5)
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1. tall, thin stature w/ long limbs
2. arachnodactyly 3. hyperextensible joints 4. dislocation of ocular lens (ectopia lentis) 5. aneurysm of proximal aorta aortic valvular deficiency DISSECTING AORTA mitral valve prolapse |
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Neurofibromatosis Type 1
aka. (1) - inheritance ? (2) - mutations in ?(3) |
1 = von Recklinghausen disease
2 = AD 3 = NF1 gene which encodes a GAP which inactivates Ras |
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Characteristics of Neurofibromatosis Type 1 (5)
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1. multiple neurofibromas
2. cafe au lait spots 3. Lisch nodules - pigmented iris hamartomas 4. scoliosis / bone cysts 5. increased incidence of pheochromocytoma |
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Tuberous Sclerosis
- inheritance? (1) |
AD
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Characteristics of Tuberous Sclerosis (6)
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1. glial nodules and distorted neurons in cortex
2. seizures 3. mental retardation 4. adenoma sebaceum 5. rhabdomyomas of heart 6. renal angiomyolipomas |
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Von Hippel-Lindau disease
- inheritance ? (1) - characteristics (3) |
1 = autosomal dominant
characteristics: 1 = hemangioblastoma/cavernous hemangioma in cerebellum, brain stem or retina 2 = cysts of liver, kideney, pancreas 3 = renal cell carcinoma |
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Tay Sachs
- type of disease? (1) - deficiency of (2) results in accumulation of (3) - common in (4) |
1 = lysosomal storage disorder
2 = hexoaminidase A 3 = Gm2 ganglioside in neurons 4 = Ashkenazi jews |
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Characteristics of Tay Sach's (5)
|
1. CNS degeneration
2. severe mental/motor deterioration 3. blindness 4. cherry red spot on macula 5. death before 4 y/o |
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Gaucher Disease
- type of disease (1) - deficiency of (2) results in accumulation of (3) - identified by presence of (4) |
1 =lysosomal storage disease
2 = glucosylceramidase (glucocerebrosidase) 3 = glucocereboside in cells of mononuclear phagocyte system 4 = Gaucher cells = enlarged histiocytes w/ distinct cigarette paper appearance |
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Type 1 Gaucher's disease is characterized by... (3)
|
1. hepatosplenamegaly
2. erosion of femoral head and long bones 3. mild anemia |
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Niemann-Pick Disease
- type of disease? (1) - deficiency of (2) results in accumulation of (3) |
1 - lysosomal storage disease
2 - sphingomyelinase 3 - sphingomyelin in phagocytes |
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Characteristics of Niemann-Pick Disease (4)
|
1. foamy histiocytes in liver, spleen, lymph and skin
2. hepatosplenamegaly 3. cherry red spot on macula (50%) 4. death by 3 y/o |
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Hurler Syndrome
- type of disease? (1) - deficiency of (2) results in accumulation of (3) |
1 - mucopolysaccaridoses - type 1
2 - a-L-iduronidase 3 - dermatin and heparin sulfate |
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Characteristics of Hurler Syndrome (6)
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1. progressive deterioration
2. hepatosplenomegaly 3. dwarfism 4. gargoyle like face 5. corneal clouding 6. death by 10 y/o |
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Von Gierke Disease
- type of disease ? (1) - deficiency of (2) results in accumulation of (3) - main characteristics: (4), (5) |
1 - glycogen storage disease - type 1
2- glucose-6-phosphatase 3 - glycogen in liver and kidney 4 - hepatomegaly 5 - hypoglycemia |
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Pomp Disease
- type ? (1) - deficiency (2) - accumulation of (3) - characteristics : (4), (5), (6), (7) |
1 - glycogen storage type 2
2 - a-1,4-glucosidase 3 = glycogen in liver, heart and skeletal mm 4 - cardiomegaly 5 - muscle hypotonia 6 - splenomegaly 7 - death before 3 y/o due to cardiorespiratory failure |
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McArdle Syndrome
- type (1) - deficiency (2) - accumulation of (3) - effects --> (4) |
1 - glycogen storage type V
2 - muscle phosphorylase 3 - glycogen in skeletal mm 4 - muscle cramps and weakness during exercise |
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classic galactosemia
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deficiency of galactose-1-phosphate uridyl transferase w/ resultant accumulation of galactose-1-phosphate in tissues
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characteristics of galactosemia (4)
|
1. failure to thrive
2. infantile cataracts 3. mental retardation 4. hepatic failure/cirrhosis |
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Phenylketonuria (PKU)
- mutation in (1) - accumulation of (2) - build up of metabolites (3) and (4) |
1. phenylalanine hydroxylase
2. phenylalanine (lack of tyrosine) 3. phenylpyruvic acid 4. phenylacetic acid |
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Characteristics of PKU (5)
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1. progressive mental deterioration
2. seizures 3. hyperactivity 4. lack of pigmentation - blue eyed, blonde hair 5. mousy/musty body odor |
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aklaptonuria
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deficiency of homogentisic oxidase leading to accumulation and urinary excretion of homogentisic acid
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characteristics of alkaptonuria (3)
|
1. urine turns dark/black on standing
2. ochronosis = dark pigmentation of fibrous tissues and cartilage 3. ochronotic arthritis |
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Maple Syrup Urine disease
|
defects in branched chain a-keto acid dehydrogenase complex
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characteristics of maple syrup urine (4)
|
1. mental/physical retardation
2. feeding problems 3. maple syrup odor of urine 4. high urinary levels of leucine, isoleucine and valine |
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Cystic fibrosis
- mutation in (1) - deletion (2) - leads to (3) and (4) |
1 - CFTR gene on Xm 7
2 - phenylalanine at position 508 3. malfunction of exocrine glands w/ increased viscosity of mucous 4 . increased Cl- conc in sweat and tears |
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3 main complications of Cystic Fibrosis
|
1. chronic pulmonary disease
- infection w/ pseudomonas aeruginosa common cause of death 2. pancreatic insufficiency - malabsorption and steatorrhea 3. meconium ileus - small bowel obstruction caused by thickened meconium |
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Hunter Syndrome
- type of inheritance (1) - deficiency of (2) - accumulation of (3) |
1 - XLR
2 - L-iduronosulfate sulfatase 3. heparin and dermatin sulfate |
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characteristcs of Hunter syndrome (6)
|
1. hepatosplenomegaly
2. micrognathia 3. retinal degeneration 4. joint stiffness 5. mild mental retardation 6. cardiac lesions |
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Fabry disease
- aka (1) - inheritance (2) - deficiency of (3) - accumulation of (4) |
1. angiokeratoma corporis diffusum universale
2. XLR - lysosomal storage 3. a-galactosidase A 4. ceramide trihexoside in body tissues |
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Characteristics of Fabry Disease (4)
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1. angiokeratoma skin lesions
2. febrile episodes 3. severe burning pain in extremities 4. death by renal failure |
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Classic Hemophillia A
- inheritance (1) - mutation in (2) - characterized by (3) |
1 - XLR, relatively common
2 - factor VIII gene 3 - hemorrhage from minor wounds, bleeding in oral mucosa, hematuria and hemarthroses |
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Lesch-Nyhan Syndrome
- inheritance (1) - deficiency of (2) - result (3) |
1 - XLR
2 - HGPRT 3 - impaired purine metabolism and excess production of uric acid |
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characteristics of Lesch-Nyhan syndrome (4)
|
1. gout
2. mental retardation 3. choreoathetosis 4. self mutilation and aggression |
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Heterozygotes of HbS are resistant to (1) but homozygotes have (2)
|
1 - malaria
2 - sickle cell anemia |
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unaffected heterozygotes w/ PKU have (1)
|
lower incidence of spontaneous abortions
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Tay Sach's has a protective effect against...
|
tuberculosis
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Cystic Fibrosis has a protective effect against...
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cholera
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granuloma
|
nodular collection of macrophages known as "epitheloid cells"
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granulomatous inflammation is characterized by (1) surrounded by (2)
|
1 = granuloma
2 = rim of lymphocytes |
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Mechanism of formation of granuloma
|
macrophages present antigen to CD4+ Th1 cells
--> T cell receptor activation triggers release of cytokines esp. IFNy --> IFNy mediates transformation of macrophages into epitheloid cells and giant cells |
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Langhans giant cell
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nuclei arranged in horseshoe pattern around periphery of cell
--> characteristic of granulomatous inflammation in tuberculosis |
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foreign body giant cell
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scattered nuclei
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Infectious agents that cause granulomatous inflammation (7)
|
1. mycobacterium tuberculosis
2. M. leprae 3. blastomyces dermatitidis 4. histoplasma capsulatum 5. coccidiodes immitis 6. treponema pallidum 7. cat scratch disease |
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labile cells - definition
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divide actively throughout life to replace lost cells --> capable of regeneration after injury
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labile cells - examples (4)
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epidermis
GI mucosa cells lining genitourinary tract hematopoietic cells of bone marrow |
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stable cells - definition
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undergo few divisions, but capable of division when activated --> capable of regeneration after injury
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stable cells - examples (4)
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1. hepatocytes
2. renal tubular cells 3. parenchymal cells of glands 4. mesenchymal cells i.e. sm. mm, cartilage, CT, endothelium and osteoblasts |
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permanent cells - definition
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incapable of division or regeneration --> replaced by scar tissue (fibrosis) after irreversible injury and cell loss
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permanent cells -examples (2)
|
myocardial cells
neurons |
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PDGF
- synthesized by (1) - chemotactic for.. (2), (3), (4) - function (5) |
1 = platelets
2 = fibroblasts 3 = smooth mm cells 4 = monocytes 5 = promotes proliferative response of fibroblasts and smooth mm cells as well as synthesis of collagen |
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EGF
|
progression factor that promotes the growth of endothelial cells and fibroblasts as well as epithelial cells
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FGF
|
promotes synthesis of ECM protein incl. fibronectin
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FGF is produced by ... (3)
|
1. fibroblasts
2. endothelial cells 3. monocytes |
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Characteristics of fibronectin (3)
|
1. chemotactic for fibroblasts and endothelial cells
2. promotes angiogenesis 3. links other ECM components and macromolecules to cell surface integrins |
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TGFa
|
functions similarly to EGF
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TGFb
|
growth inhibitor
chemotactic factor for macrophages and fibroblasts |
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IL-1 and TNF promote proliferation of ... (3)
|
fibroblasts
smooth muscle cells endothelial cells |
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What is granulation tissue?
|
high vascular, newly formed CT consisting of capillaries and fibroblasts
--> fills defects created by liquefaction of cellular debris |
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as the amount of collagen increases in granulation tissue....
|
the tissue gradually becomes less vascular and less cellular
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Factors that delay/impede repair (5)
|
1. retention of debris
2. impaired circulation 3. persistent infection 4. metabolic disorders 5. dietary deficiency of Vit C or protein |
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hematoma
|
localized hemorrhage within a tissue or organ
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hemothorax
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hemorrhage into pleural cavity
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hemopericardium
|
hemorrhage into pericardiac sac
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hemoperitoneum
|
hemorrhage into peritoneal cavity
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hemiarthrosis
|
hemorrhage into synovial space
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petechial hemorrhages, petechaie and purpura
|
small, punctate hemorrhages
occur in: skin mucous membranes serosal surfaces |
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ecchymosis
|
diffuse hemorrhage usually in skin or subcutaneous tissue
aka. bruise |
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hyperemia
|
localized increase in volume of blood in capillaries and small vessels
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active hyperemia
|
localized arteriolar dilation
- results in blushing/inflammation |
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passive congestion (hyperemia)
|
caused by obstructed venous return.. OR... increased back pressure (CHF)
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acute passive congestion occurs in ... (3)
|
1. shock
2. acute inflammation 3. sudden RHF |
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chronic passive congestion of LUNG is caused most often by.. (2)
|
1. Left sided congestive HF
2. mitral stenosis |
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heart failure cells
|
hemosiderin laden macrophages
--> located intra-alveolarly --> congestion causes distention/rupture of alveolar capillaries and passage of RBCs into alveoli |
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chronic passive congestion of LIVER and LOWER extremities is most often caused by....
|
right sided heart failure
|
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nutmeg liver
|
dilated, congestive central veins in liver w/ surrounding brownish-yellow, often fatty, liver cells
--> seen in chronic passive congestion |
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infarction
|
necrosis resulting from ischemia (occlusion of blood supply)
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anemic infarcts
- color? (1) - where do they occur? (2) - caused by? (3) |
1 = white or pale
2 = heart, spleen or kidney 3 = arterial occlusions |
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hemorrhagic infarcts
- color ? (1) - caused by? (2) - occur characteristically in.. (3) |
1 - red (red cells ooze into necrotic area)
2 - arterial occlusion or venous occlusion 3 - lungs and GI tracts (have collateral circulation) |
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venous occlusion, leading to hemorrhagic infarct contributes to .. (3)
|
1. volvulus
2. incarcerated hernias 3. postoperative adhesions |
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thrombosis
- definition? (1) - interplay of what 3 things ? (2) |
1 = intravascular coagulation of blood
2 = platelets, damaged endothelial cells and coagulation cascade |
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conditions that predispose to thrombosis... (7)
|
1. venous stasis
2. CHF 3. polycythemia 4. sickle cell disease 5. visceral malignancies 6. OCP 7. smoking |
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4 main functions of platelets
|
1. physical integrity of vasc. endo
2. endo repair through PDGF 3. platelet plugs 4. coagulation cascade via platelet phospholipid complex |
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|
mechanism of platelet adhesion to endothelium
|
injury exposes subendothelial collagen --> this binds to vWF
vWF binds glycoprotein receptors on platelets |
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TxA2
|
formed from AA which is activated by platelet mb phospholipase
--> potent vasoconstrictor and platelet aggregant |
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|
mechanism of platelet aggregation
|
mediated by glycoprotein IIb-IIIa complex on the surface of platelets that is required to ling platelets to fibrinogen
|
|
|
which mediator limits platelet plug formation?
|
PgI2
--> antagonistic to TxA2 fibrin degradation products are also inhibitory |
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functions of endothelial include... (8)
|
1. produce endothelial proteoglycans that activates anti-thrombin III
2. secrete tissue plasminogen activator 3. degrade ADP 4. inactivate thrombin 5. synthesize thrombomodulin 6. synthesize protein S = cofactor for activated Protein C 7. synthesize PGI2 8. synthesize/release NO |
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|
thrombomodulin
|
cell surface protein that binds thrombin and activates protein C
|
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|
fibrinolysis is medaited by... (1)
|
plasmin
--> splits fibrin |
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|
hereditary thrombophilia
- occurs in (1) - characterized by (2) and (3) - deficiency in (4), (5) and (6) |
1 = adolescent young women
2 = recurrent venous thrombosis 3 = thrombo-embolism 4 = antithrombin III 5 = protein C 6 = protein S |
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factor V leiden
|
most frequent case of hereditary thrombophillia
--> resistant to cleavage by activated protein C |
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|
methylene tetrahydrofolate reductase mutation
|
moderate increase in serum homocysteine --> arterial and venous thrombosis
|
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|
you can decrease levels of homocysteine by....
|
intake of folic acid, vit B6 and vit B12
|
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|
arterial thrombi
- formed in areas of (1) - when mature, they possess (2) |
1 = active blood flow
2 = lines of Zahn |
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|
lines of Zahn
|
alternating dark gray layers of platelets interspersed w/ lighter layers of fibrin
|
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|
venous thrombi
- aka (1) - formed in areas of (2) - most common in (3) - color (4) |
1 - phlebothrombosis
2 - less active blood flow 3 - veins of lower extremities 4 - dark red w/ higher conc of red cells |
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thrombophlebitis
|
inflammation of veins w/ thrombus formation
|
|
|
postmortem clots
|
not attached to vessel wall
currant jelly appearance in red cell rich layer and chicken fat appearance in cell-poor upper layer |
|
|
arterial emboli usually arise from.... (1)
|
mural thrombi
|
|
|
mural thrombi in LA associated w/ (1)
mural thrombi in LV associated w/ (2) |
1 = mitral stenosis and atrial fibrillation
2 = myocardial infarction |
|
|
main sites of arrest of arterial emboli ... (3)
|
1 = middle cerebral artery = cerebral infarct
2 = mesenteric artery = hemorrhagic infarction of intestine 3 = renal artery = pale infarcts of renal cortex |
|
|
paradoxical emboli
|
left sided emboli that originate in venous circulation but gain access via R-L shunt, most often patent foramen ovale or atrial septal defect
|
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|
fat emboli
|
particles of bone marrow and fatty intraosseus tissue
--> from severe/multiple fractures |
|
|
where do fat emboli lodge?
|
lungs
brain kidneys |
|
|
fat embolism syndrome
|
pulmonary distress
cutaneous petichae neurologic manifestations |
|
|
decompression sickness
|
deep sea divers who return to surface too rapidly
--> bubbles of insoluble nitrogen come out of solution and obstruction circulation |
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|
the bends
|
mucsculoskeletal pain due to air emboli
|
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|
caisson disease
|
small infarcts in CNS, bones and other tissues due to chronic presence of air emboli
--> fat ppl have increased risk bc nitrogen has increased affinity for adipose |
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|
transudate
|
low protein content
specific gravity < 1.012 --> result of increased hydrostatic pressure or decreased osmotic pressure |
|
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exudate
|
high protein content
specific gravity > 1.012 contains lots of leukocytes --> result of increased vascular permeability (inflammation) |
|
|
shock
|
circulatory collapse w/ resultant hypoperfusion and decreased oxygenation of tissues
|
|
|
causes of shock (2)
|
1 = decreased CO (hemorrhage, LVF)
2 = peripheral vasodilation (sepsis, trauma) --> hypotension |
|
|
hypovolemic shock -- causes.. (3)
|
1. severe hemorrhage
2. loss of fluid from skin - burns 3. severe vomiting/diarrhea |
|
|
cardiogenic shock
|
pump failure of LV
--> caused by massive MI |
|
|
septic shock
|
- usually gram negative bacteria
- cause direct injury to vessels resulting in peripheral pooling of blood and vasodilation --> impaired perfusion and DIC |
|
|
systemic infammatory response syndrome (SIRS)
|
generalized immune and inflammatory reaction that may complicate septic shock
|
|
|
neurogenic shock
|
associated w/ severe trauma and reactive peripheral vasodilation
|
|
|
stages of shock (3)
|
1. compensation = increased HR and increased TPR
2. progression = tissue hypoperfusion, metabolic acidosis 3. irreversible = survival not possible |
|
|
most important morphologic manifestation of shock....
|
acute tubular necrosis in kidney
--> reversible potentially |
|
|
other findings in shock...(6)
|
1. areas of necrosis in brain
2. centrilobular necrosis in liver 3. fatty change in heart/liver 4. patchy mucosal hemorrhage in colon 5. depletion of lipid in adrenal cortex 6. pulmonary edema |
|
|
systemic infammatory response syndrome (SIRS)
|
generalized immune and inflammatory reaction that may complicate septic shock
|
|
|
neurogenic shock
|
associated w/ severe trauma and reactive peripheral vasodilation
|
|
|
stages of shock (3)
|
1. compensation = increased HR and increased TPR
2. progression = tissue hypoperfusion, metabolic acidosis 3. irreversible = survival not possible |
|
|
most important morphologic manifestation of shock....
|
acute tubular necrosis in kidney
--> reversible potentially |
|
|
other findings in shock...(6)
|
1. areas of necrosis in brain
2. centrilobular necrosis in liver 3. fatty change in heart/liver 4. patchy mucosal hemorrhage in colon 5. depletion of lipid in adrenal cortex 6. pulmonary edema |
|
|
features of dysplasia (4)
|
1. reversible
2. disorderly maturation and spatial arrangement of cells 3. marked variability in nuclear size and shape 4. increased mitoses |
|
|
the most important defining characteristic of malignancy
|
metastasis
|
|
|
characteristics of anaplasia (7)
|
1. poorly differentiated
2. pleomorphism 3. hyperchromatism 4. increased nuclear-cytoplasm ratio 5. abnormal mitoses 6. cellular dyspolarity 7. prominent nucleoli |
|
|
most aggressive tumors usually respond to what kind of treatment? (1) and why? (2)
|
1 = chemo / radiation
2 = bc they are rapidly dividing |
|
|
carcinoma is a malignant tumor of .... origin
|
epithelial
|
|
|
squamous cell carcinoma
- originates from ? (1) - places (2) - characterized by (3) |
1. stratified squamous epithelium
2. skin, mouth, esophagus, vagina, bronchi, cervix 3. keratin pearls |
|
|
adenocarcinoma
|
carcinoma of glandular epithelium
|
|
|
locations where adenocarcinoma can occur (3)
|
GI mucosa
endometrium pancreas |
|
|
adenocarcinoma is associated w/ (1) esp. in (2), (3) and (4) tumors
|
1. desmoplasia
2. breast 3. pancreas 4. prostate |
|
|
desmoplasia
|
tumor induced proliferation of non-neoplastic fibrous CT
|
|
|
sarcoma
|
tumor of mesenchymal origin
|
|
|
teratoma
|
neoplasm derived from three germ cell layers
|
|
|
where do teratomas usually form?
|
ovaries and testes
|
|
|
papilloma
|
fingerlike epithelial processes overlying a core of CT stroma that contains blood vessels
|
|
|
where do papillomas form?
|
on surface epithelium
--> squamous epithelium of skin, larynx or tongue |
|
|
adenoma
|
benign neoplasm of glandular epithelium
|
|
|
papillary cystadenoma
|
adenomatous papillary processes that extend into cystic space
ex. cystadenoma of ovary |
|
|
fibroadenoma
|
proliferation of CT surrounding glandular epithelium; either the CT or the stroma may be neoplastic
|
|
|
choristoma
|
small, non neoplastic area of normal tissue misplaced within another organ
ex. pancreatic nodule in wall of stomach |
|
|
hamartoma
|
non-neoplastic, disorganized, tumor-like overgrowth of cell types regularly found in the affected organ
ex. hemangioma = irregular accumulation of BV |
|
|
the classic indicators of monoclonality of tumors
|
glucose-6-phosphate dehydrogenase (G6PD)
--> as well as other X linked markers |
|
|
human androgen receptor gene (HUMARA)
|
now the most common marker used to assess clonality
|
|
|
HUMARA method involves...
|
studying methylation patterns adjacent to high frequency polymorphisms in multiple populations
|
|
|
invasion
|
aggressive infiltration of adjacent tissues by malignant tumor
--> extends to lymphatics and blood vessels forming tumor emboli |
|
|
metastasis
|
implantation of tumor in distant sites from origin
|
|
|
multistep process of metastasis (6)
|
1. growth and vascularization of primary tumor
2. invasiveness and penetration of BM 3. transport and survival of tumor cells in bloodstream 4. arrest of tumor emboli in target 5. overcome target tissue defense mechanisms 6. metastatic implants |
|
|
carcinomas metastasize via...
|
lymphatics
|
|
|
sarcomas metastasize via..
|
blood-borne (hematogenous) dissemination
|
|
|
which two carcinomas spread by hematogenous dissemination?
|
1. renal cell carcinoma
2. hepatocellular carcinoma |
|
|
Most common target organs for metastasis....
|
liver
lungs brain adrenal glands lymph nodes bone marrow |
|
|
cachexia and wasting (clinical manifestations of malignancy) are mediated by...
|
TNFa i.e. cachectin
|
|
|
paraneoplastic Cushing's syndrome
|
increased ACTH
--> small cell lung carcinoma |
|
|
paraneoplastic increase in ADH
|
small cell lung carcinoma
|
|
|
paraneoplastic hypercalcemia (3)
|
1. metastatic disease in bone
2. bronchogenic carcinoma - secretion of PTHrP 3. multiple myeloma - osteoclast activating factor |
|
|
paraneoplastic hypoglycemia
|
secretion of insulin-like factor by:
hepatocellular carcinoma mesotheliomas sarcomas |
|
|
paraneoplastic polycythemia
|
elaboration of erythropoetin by renal tumors
|
|
|
paraneoplastic hyperthyroidism
|
increased TSH production
--> by hydatidiform moles, choriocarcinomas and lung tumors |
|
|
paraneoplastic skin lesions (2)
|
1. acanthosis nigricans
2. dermatomyositis |
|
|
paraneoplastic neurologic abnormalities (3)
|
1. degenerative cerebral changes w/ dementia
2. cerebellar changes w/ resultant gait dysfunction 3. peripheral neuropathies |
|
|
paraneoplastic coagulation abnormalities (2)
|
1. migratory thrombophlebitis associated w/ carcinoma of pancreas = Trousseau phenomenon
2. DIC |
|
|
carcinoembryonic antigen (CEA)
|
associated w/ colon cancer
|
|
|
a-fetoprotein (AFP)
|
associated w/ hepatocellular carcinoma and many germ cell tumors
|
|
|
cigarette smoking is associated w/ which cancers?
|
1. carcinoma of lung
2. carcinoma of larynx |
|
|
excess sun exposure associated w/ ?
|
1. squamous cell carcinoma
2. basal cell carcinoma 3. melanoma |
|
|
akylating agents are associated w/ which cancer?
|
acute leukemia
|
|
|
asbestos is associated w/ which cancers? (3)
|
1. lung carcinoma
2. pleural and peritoneal mesothelioma 3. GI tract cancers |
|
|
smoked foods rich in nitrosamines associated w/ which cancer?
|
adenocarcinoma of stomach
|
|
|
alcohol is associated w/ which cancer? (2)
|
1. carcinoma of mouth/esophagus
2. hepatocellular carcinoma (from cirrhosis) |
|
|
arsenic is associated w/ which cancer? (2)
|
1. squamous cell carc. of skin
2. basal cell carc. of skin |
|
|
low fiber diet is associated w/ which cancer?
|
adenocarcinoma of colon
|
|
|
high fat diet is associated w/ which cancer?
|
breast cancer
|
|
|
aniline dyes, aromatic amines and B-naphthylamine are associated w/ which cancer?
|
transitional cell carcinoma of bladder
|
|
|
aflatoxin B1 is associated w/ which cancer?
|
hepatocellular carcinoma
|
|
|
benzene is associated w/ which cancer?
|
acute leukemia
|
|
|
polyvinyl chloride is associated w/ which cancer?
|
hepatic hemangiosarcoma
|
|
|
thorotrast is associated w/ which cancer?
|
hepatic hemangiosarcoma
|
|
|
diethylstilbestrol is associated w/ which cancer?
|
clear cell adenocarcinoma of vagina
--> occurs in daughters |
|
|
nickel, chromium and uranium are associated w/ which cancer?
|
carcinoma of lung
|
|
|
initiation of carcinogenesis
|
reaction b/w carcinogen and DNA
|
|
|
promotion of carcinogenesis
|
induced by stimulator of carcinogenesis and enhances the carcinogenic process
|
|
|
mechanism of UV radiation carcinogenesis
|
forms thymine dimers in DNA
|
|
|
xeroderma pigmentosum
|
AR
--> failure of DNA excision repair --> cannot repair thymine dimers due to UV light |
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ionizing radiation is responsible for the following cancers..(5)
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1. skin cancer and myeloid leukemias in radiologists
2. lung cancer in uranium miners 3. thyroid cancer in pts who have received head and neck radiation therapy 4. acute and chronic myeloid leukemias in survivors of atomic blasts 5. osteosarcoma in radium watch-dial workers |
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HTLV-1 virus is associated w/ which cancer?
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adult T cell leukemia/lymphoma
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HPV is associated w/ which cancer? (2)
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premalignant lesions and cancers of cervix/vagina
laryngeal papillomas |
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EBV virus is associated w/ which cancer? (2)
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1. Burkitt lymphoma
2. nasopharyngeal carcinoma |
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Hepatits B virus (HBV) is associated w/ which cancer?
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hepatocellular carcinoma
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HHV8 virus is associated w/ which cancer?
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Kaposi's sarcoma
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H.pylori is associated w/ which cancer? (2)
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1. adenocarcinoma of stomach
2. B cell lymphomas of stomach (MALTomas) |
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t(8:14) translocation
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Burkitt Lymphoma
--> increases expression of c-myc |
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t(14:18) translocation
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follicular lymphoma
--> enhanced expression of bcl2 (inhibits apoptosis) |
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t(9:22) translocation
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chronic myeloid leukemia (CML)
--> bcr-abl fusion gene = increased TK activity |
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Philadelphia Xm
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carries bcr-abl gene
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t(15:17) translocation
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acute promyelocytic leukemia
--> PML gene on Xm15 and retinoic acid receptor-alpha gene on XM17 |
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two hit hypothesis of Knudson
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regarding tumor suppressor genes
--> two mutagenic events are necessary to induce alterations on both chromosomes |
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Li-Fraumeni syndrome predisposes to which cancers? (4)
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1. breast tumors
2. soft tissue sarcomas 3. brain tumors 4 leukemias |
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Wilm's tumor
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most common renal neoplasm of children
--> inactivation/deletion of WT1 and WT2 |
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BRCA1
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inactivation is associated w/ familial propensity to breast and ovarian carcinoma
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von Recklinghouse neurofibromatosus type 1
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multiple benign neurofibromas
cafe au lait spots iris hamartomas increased risk of fibrosarcoma --> mutations in TSG called NF1 |
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multiple endocrine neoplasia
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familial occurence of:
medullary thyroid carcinoma bilateral pheochromocytoma hyperparathyroidism --> mutation in ret proto-oncogene |
