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19 Cards in this Set

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  • Back
A-18. What are the oncogenes associated with Burkitt Lymphoma, CML, and Colon carcinoma?
BL: c-myc

CML: c-abl

CC: RAS
A-18. What are the tumor supressor genes and their associated diseases?
BRCA-1: breast and ovarian cancer

P53: breast, colon, and lung carcinomas
A-18. Alkaline phosphate is found and used for...?
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
A-18. What is the clinical triad for Hashimoto's thyroiditis?
Nontender goiter
Typically female
Hypothyroidism that becomes symptomatic
A-18. What are the autoantibodies associated with Myasthenia Gravis and Grave's Disease?
MG: anti-ACh receptor

GD: anti-TSH receptor
A-18. AL (amyloid light chain) is associated with...?
Mult. Myeloma and Waldenstroms's
A-18. AB protein (amyloid-beta) is produced by a gene on chromosome ___ and when deposted into the brain causes _______________?
22, Alzheimer's disease
A-18. What are the mechanisms of Type I-IV behind hypersensitivity reactions?
I: IgE mediated
II: antibody mediated cytotoxicity
III: immune complex deposition
IV: cell mediated
A-18. What is the mechanism, hypersensity rx type, and onset time of Graft vs Host?
T-cells in transplanted tissue attack the host, Type IV (t-cell mediated cytotoxicity), days to weeks
A-18. What are the common and least common sites of metastases for breast and lung cancer?
Breast: likes bone and less commonly brain

Lung: likes brain and less commonly bone
A-18. What are the facts to know about Autosomal Dominant, X-linked dominant, X-linked recessive, and Autosomal recessive diseases?
AD: never skips generations

XLD: NO male to male, never skips generations

XLR: NO male to male

AR: variable
A-18. Although rare, what are two diseases that are X-linked dominant?
Hyperphosphatemic rickets: inherited Vit D resistance, bowed legs

Incontinnental pigmenti: mini teeth and patchy alopecia
A-18. Leber's optic neuropathy (bilateral blindness with onset sometimes after 15 yo) is an example of what?
Mitochondrial inheritance: mitochondrial genes are inherited from one's mother
A-18. What is the inheritence pattern of Phenlyketonuria, its pathophys, and clinical presentation?
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.
A-18. What is the pathophys and types of mucopolysaccharidoses (lysosomal storage diseases)?
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).
A-18. What is the pathophys and types of sphingolipidoses(lysosomal storage diseases)?
Unable to metabolize sphongolipids, molecules typically involved with myelin and the CNS. Niemann Pick, Krabbe's, Gauchers, Tay-Sachs, Metachromatic dystrophy, Fabry
A-18. What is the pathophys and presentation of Hemochromatosis?
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
A-18. What is the pathophys and presentation of Ehlers-Danlos Syndrome?
Many forms, all due to abnormal collagen and/or elastin. Hyperextensible skin and joints
A-18. What is the pathophys and clinical findings of Marfan Syndrome?
Due to Fibrillin deficiency, leads to defective microfibrils (critical to connective tissue). Tall and thin, ectopia lentis, aortic dilation/aneutysms, arachnodactyly, mitral valve prolapse.