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19 Cards in this Set
- Front
- Back
A-18. What are the oncogenes associated with Burkitt Lymphoma, CML, and Colon carcinoma?
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BL: c-myc
CML: c-abl CC: RAS |
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A-18. What are the tumor supressor genes and their associated diseases?
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BRCA-1: breast and ovarian cancer
P53: breast, colon, and lung carcinomas |
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A-18. Alkaline phosphate is found and used for...?
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1.)Bone - track bone cancer and diagnose non-neoplastic bone disease
2.) Kidneys: track renal carcinoma 3.) PLacenta 4.) Biliary system: diagnose non-neoplastic diseases of the biliary system |
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A-18. What is the clinical triad for Hashimoto's thyroiditis?
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Nontender goiter
Typically female Hypothyroidism that becomes symptomatic |
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A-18. What are the autoantibodies associated with Myasthenia Gravis and Grave's Disease?
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MG: anti-ACh receptor
GD: anti-TSH receptor |
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A-18. AL (amyloid light chain) is associated with...?
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Mult. Myeloma and Waldenstroms's
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A-18. AB protein (amyloid-beta) is produced by a gene on chromosome ___ and when deposted into the brain causes _______________?
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22, Alzheimer's disease
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A-18. What are the mechanisms of Type I-IV behind hypersensitivity reactions?
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I: IgE mediated
II: antibody mediated cytotoxicity III: immune complex deposition IV: cell mediated |
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A-18. What is the mechanism, hypersensity rx type, and onset time of Graft vs Host?
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T-cells in transplanted tissue attack the host, Type IV (t-cell mediated cytotoxicity), days to weeks
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A-18. What are the common and least common sites of metastases for breast and lung cancer?
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Breast: likes bone and less commonly brain
Lung: likes brain and less commonly bone |
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A-18. What are the facts to know about Autosomal Dominant, X-linked dominant, X-linked recessive, and Autosomal recessive diseases?
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AD: never skips generations
XLD: NO male to male, never skips generations XLR: NO male to male AR: variable |
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A-18. Although rare, what are two diseases that are X-linked dominant?
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Hyperphosphatemic rickets: inherited Vit D resistance, bowed legs
Incontinnental pigmenti: mini teeth and patchy alopecia |
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A-18. Leber's optic neuropathy (bilateral blindness with onset sometimes after 15 yo) is an example of what?
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Mitochondrial inheritance: mitochondrial genes are inherited from one's mother
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A-18. What is the inheritence pattern of Phenlyketonuria, its pathophys, and clinical presentation?
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Autosomal recessive, unable to metabolize phenylalanie causing a buildup of phenylalanie break-down products and the inability to make Melanin and NTs Norepinephrine and Dopamine. Cause neurotoxicity and light complexion due to decreased melanin.
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A-18. What is the pathophys and types of mucopolysaccharidoses (lysosomal storage diseases)?
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Unable to metabolize glycosaminoglycans, which are crital components to connective tissue. Cause Hurlers, Hunters, and Scheie. Some may or may not cause retardation and/or corneal clouding (how they differ).
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A-18. What is the pathophys and types of sphingolipidoses(lysosomal storage diseases)?
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Unable to metabolize sphongolipids, molecules typically involved with myelin and the CNS. Niemann Pick, Krabbe's, Gauchers, Tay-Sachs, Metachromatic dystrophy, Fabry
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A-18. What is the pathophys and presentation of Hemochromatosis?
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Excess iron deposits in the liver, pancreas, heart, and skin - resulting in cirrhosis, new onset of type 1-like diabetes, cardiomyopathy, and bronce colored skin
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A-18. What is the pathophys and presentation of Ehlers-Danlos Syndrome?
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Many forms, all due to abnormal collagen and/or elastin. Hyperextensible skin and joints
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A-18. What is the pathophys and clinical findings of Marfan Syndrome?
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Due to Fibrillin deficiency, leads to defective microfibrils (critical to connective tissue). Tall and thin, ectopia lentis, aortic dilation/aneutysms, arachnodactyly, mitral valve prolapse.
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