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108 Cards in this Set
- Front
- Back
Deficiency of enzyme that is associated with fructose intolerance
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aldose B
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Treatment of fructose intolerance
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removal of sucrose, fructose and sorbitol from the diet
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Characterized by parathyroid tumors, pituitary tumors and pancreatic tumors
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MEN 1
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Characterized by hamartomes in the cortices and retinas, cardiac rhabdomyomas, seizures, mental retardation, facial angiofibromas and hypomelanotic macules (ash leaf spots)
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Tuberous sclerosis
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Effect of tissue catabolism
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increase in amino acid breakdown, leading to a larger amount of urea, which leads to increased BUN
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MOA for vancomycin
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bind the D-Ala terminus of peptidoglycan thus preventing elongation of the chain in the cell wall synthesis
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Drugs that may cause cutaneous flushing
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Vancomycin, naicin, Ca++ channel blockers, and adenosine
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N&V, fever, watery diarrhea around 24 hours after eating undercooked oysters- TOW?
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Vibrio parahaemolyticus
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Staghorn calculi most commonly contain
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ammonium magnesium phosphate
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Low molecular weight heparin works by binding antithrombin III which inactivates
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factor Xa
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syndrome is characterized by antibody binding to the pre-synaptic membrane and weakness that is relieved by repeated muscle stimulation
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Lambert-Eaton syndrome
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B-hCG is secreted by the _____ of the placenta
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syncytiotrophoblast
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Antibodies against parietal cells and intrinsic factor are found. Megaloblastic anemia with hypersegmented neutrophils due to vitamin B12 deficiency is characteristic
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Pernicious anemia
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Mech. of action for Cyclosporine-
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binds to cyclophilins inhibiting Calcineurin
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The extended spectrum penicillin’s, including ticarcillin, are susceptible to
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B-lactamase
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a hereditary hyperbilirubinemia that has no clinical consequences
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Gilbert’s syndrome
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an immature defense mechanism associated with borderline personality disorder. People are seen as all good or all bad and can change back and forth very fast
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Splitting
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a dehydrofolate reductase that is a first line treatment for small nonruptured ectopic pregnancy
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Methotrexate
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mainly responsible for producing the glomerular basement membrane
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Podocytes
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The most common sight for Meckel’s diverticulum is______. Bleeding is the most common presentation in children
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2 feet proximal to the ileocecal valve in the right lower quadrant
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Homocystinuria is a rare genetic disease caused by cystathionine synthase deficiency. Both Homocysteine and methionine will be elevated. Elevated Homocysteine levels increase risk for
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thromboebolic events
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Laryngotracheobronchitis (croup) is most commonly caused by
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parainfluenza virus
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This test is used to diagnose the cause of vitamin B12 deficiency. First radioactive vitamin B12 is given orally, followed by intramuscular injection of non-radioactive B12. A normal person excretes radioactive B12. If excreted levels are low there is defective GI absorption of B12
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Schillings test
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the most common cause of nephrotic syndrome in children. Nephrotic syndrome presents with hypoalbuminia, proteinuria, hyperlipidemia, and generalized edema. Tx: corticosteroids
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Minimal change disease
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primary hyperaldosteronism caused by an aldosterone-secreting tumor of the adrenal gland. Patients usually have hypertension, hypokalemia, metabolic alkalosis and low rennin levels
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Conn syndrome
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associated with bilateral hemorrhagic necrosis of the adrenal glands due to meningococcal septicemia
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Waterhouse-Friderichsen syndrome
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Tetralogy of Fallot is a cyanotic heart disorder consisting of four heart defects
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VSD, pulmonary stenosis, R vent. hypertrophy, and overriding aorta
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Drug that can promote the release of factor 8 which could be helpful in mild cases of hemophilia A
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Desmopressin
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the most common cause of bloody diarrhea and the most common cause of Guillian-Barre syndrome. GBS presents as ascending weakness
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Campylobacter jejuni
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Primary biliary cirrhosis is autoimmune and classically presents in 40 y/o women. In males TOW
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Primary sclerosing cholangitis normally presents in 40-50 y/o males
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In Pulmonary embolism, what will be elevated indicating a hypercoagulable state
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Fibrin degradation products
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Wheezing after the ingestion of aspirin is due to
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inhibition of COX which increases leukotriene synthesis and results in bronchoconstriction
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It encodes the frataxin gene and causes defects in mitochondrial function. The patient presents with stumbling, kyphoscoliosis, “hammer toes” pes cavus, dysarthria, and nystagmus
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Friedreich ataxia
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Friedreich ataxia is an AR trinucleotide repeat of
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GAA
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Huntington’s –
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CAG repeat
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Fragile X Syndrome-
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CGG repeats
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Myotonic dystrophy-
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CTG repeats
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Kartagener’s syndrome-
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situs inversus totalis
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Gallstones are a common complication of
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Crohn’s disease
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Fabry’s disease is an x-linked lysosomal storage disease that results from a deficiency in______. It is a major disease of heart and kidneys
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alpha-galactosidase
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AR- lysosomal storage disease from a deficiency in alpha-glucosidase that results in cerebrosides. It presents with hepatosplenomegaly, mental retardation, and skeletal deformities
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Gaucher’s disease
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AR- lysosomal storage disease from a deficiency in beta-galactosidase that results in cerebrosides. It is more severe than Gaucher’s and is fatal early in life because of almost complete absence of sphingomyelin
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Krabbe’s disease-
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lysosomal storage disease with deficiency of sphingomylinase enzyme. It presents with MR and death by 2-3 years of age, failure to thrive, hepatosplenomegaly, cherry spots on macula
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Niemann-Pick disease-
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lysosomal storage disease associated with sphingolipdosis. There is a deficiency in the enzyme beta-hexosaminidase with an accumulation of gangliosides. The patient is normal until 5 months old and will die at 5 years old. Cherry red spots on the macula are seen
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Tay-Sachs-
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Brain tumors that are found mostly in adults and are characterized by densely packed cells in sheets with no distinct cytoplasmic borders, Psammoma bodies, or whorled calcifications are present throughout
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Meningiomas
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highly malignant brain tumor in children- contain sheets of small basophilic cells
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Medullobastomas-
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Brain tumor that contains cells with round nuclei and clear cytoplasm- “fried egg”
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Oligodendroglioma
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Brian tumors that are cystic masses filled with cholesterol crystals and viscous fluid
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Craniopharygliomas
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Brain tumor that consist of pseudopalisading, pleomorphic cell that border central areas of necrosis and hemorrhage
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Glioblastoma multiforme
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A cell with esinophilic cytoplasm, keratin pearls and intercellular bridges is the description for
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squamous cell carcinoma
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causes of increased anion gap metabolic acidosis
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Aspirin overdose, end-stage renal failure, lactic acidosis, and DKA
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Diseases that must be reported to the CDC include
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HIV, AIDS, syphilis, gonorrhea, Chlamydia, measles, mumps, cryptosporidiosis, Lyme disease, TB, tetanus, diphtheria, rubella, pertussis, cholera, varicella, salmonella, shigella, and coccidiomycosis
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presents like schizophrenia but last only 1-6 months
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Schizophreniform disorder
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Kimmelstiel-Wilson nodules
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diabetic nephropathy
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In type II diabetes, amyloid deposits develop on the
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pancreas but not the kidney
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the best ways to prevent kidney stones
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A low sodium diet and hydration
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most commonly presents in men over the age of 60 with lymphadenopathy and unexplained elevated white cell count
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Chronic lymphocytic leukemia
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has low leukocyte alkaline phosphatase and the peripheral smear shows excess grandulocytes
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CML
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associated with auto immune hemolytic anemia which is characterized by spherocytes, elevated reticulocytes and a positive Coombs test
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CLL
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Breast feeding does not provide sufficient______ levels to infants
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vitamin D
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Muscarinic-3 and Cholecystokinin receptors activate
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Gq coupled proteins
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Histamine-2 receptor activates
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Gs protein subunit, stimulating adenyl cyclase
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Somatostatin and Prostaglandin receptors activate
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Gi subunit protein inhibiting adenyl cyclase and thereby decreasing the concentration of cAMP leading to the decreased secretion of hydrogen ions into the lumen of the GI system
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a glycogen storage disease characterized by the deficiency of muscle glycogen phosphorylase. With this enzyme deficiency, glycogenolysis cannot occur properly. Patients present with exercise intolerance, myalgia, early fatigue, muscle cramps, and potential rhabdomyolysis
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McArdle disease
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a Glucose-6-phosphate deficiency, patients present with hypoglycemia, hepatomegaly, lactic acidosis, and growth failure
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Von Gierke disease
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deficient in Pompe disease, usually resulting in death at an early age
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Acid maltase
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Liver glycogen phosphorylase is deficient in
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Hers disease
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liver biopsy of Reye syndrome is characterized by
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reversible fatty changes
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the deficient enzyme in Niemann-Pick disease
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Sphingomyelinase
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Tay-Saches disease is caused by a deficiency of
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hexosaminidase A. Absence of this key enzyme leads to accumulation of GM2 ganglioside within the central nervous system
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Gaucher disease is a deficiency of
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B-glucocerebrosidase
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the deficient enzyme in Fabry disease
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Alpha-galactosidase A
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Emphysema is characterized by
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increased lung compliance and decreased elasticity
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a hypertrophic, protein-losing gastropathy often associated with abdominal pain, diarrhea, weight loss, and edema
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Menetrier disease
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The V/Q ratio is normally higher at the apex compared to the base of the lungs. A high ratio is consistent with a ______ ______ and a low ratio is consistent with airway ______
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pulmonary embolism and a low ratio is consistent with airway obstruction
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presents in adulthood as enlarged bones with lytic and sclerotic lesions. Defective bone remodeling is the cause
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Paget disease of the bone
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In drugs that follow first order kinetics, steady state is achieved in
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4 to 5 half lives
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diagnosed by a negative NBT staining test. This disease is caused by a defect in NADPH oxidase which impairs oxygen dependent microbial killing in phagocytes
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Chronic granulomatous disease
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the tumor marker in over 80% of women with ovarian cancer
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CA-125
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elevated in 71-93% of pancreatic cancers
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CA 19-9
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IL secreted by macrophages and is a pyrogen. It also stimulates T-cells, B-cells, neutrophils, fibroblasts, and epithelelial cells for growth and differentiation
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IL-1
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IL secreted by helper T-cells to activate macrophages and CD8 T-cells
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IL-2
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IL secreted by T-cells to support bone marrow cells
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IL-3
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IL production of Th2 cells
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IL-4
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IL production of antibodies by B-cells
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IL-5
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IL that is the primary chemotactic factor for neutrophils
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IL-8
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Drug pregnancy category A
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safe from human studies
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Drug pregnancy category B
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animal studies say safe
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Drug pregnancy category C
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no studies therefore use when benefits outweigh risk
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Drug pregnancy category D
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adverse effects but benefits may outweigh risk
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Drug pregnancy category X
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Don't even think of using
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"spike and dome" appearance of basement membrane
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Membranous glomerulonephritis
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IgA nephropathy
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Berger's disease
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Wegener's granulomatosis
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c-ANCA
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empty looking nuclei (orphan Annie's eyes) and psammoma bodies; most common thyroid cancer
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Papillary thyroid carcinoma
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thyroid cancer related to dietary iodine deficiency, small cells filled with colloid
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Follicular thyroid carcinoma
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neuroendocrine tumor of the C cells that secrete calcitonin; MEN2A and MEN2B
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Medullary thyroid carcinoma
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the most common cancer to metastasize to the thyroid gland
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Renal cell
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Membranoproliferative glomerulonephritis
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"train track" appearance
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Egg based vaccines
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influenza, MMR, and yellow fever
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Marker to track melanoma
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Serial S-100
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tumor marker for colorectal cancer
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CEA
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Oligoclonal bands in the CSF are diagnostic for
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multiple sclerosis
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Antibody associated with Hashimoto's thyroiditis
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Antimicrosomal
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Antibody associated with scleroderma and more commonly with CREST syndrome
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Anticentromere
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Antibody associated with primary biliary cirrhosis
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Antimitochondrial
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Antibody associated with mixed connective tissue disease
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Antiribonucleoprotein a.k.a. anti-U1 RNP
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Antibody associated with Celiac disease
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Antiendomysial
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