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27 Cards in this Set
- Front
- Back
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What is cystinuria? |
Hereditary condition caused by abnormal carrier that is unable to remove cystine from urine ---> kidney stones |
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What is a characteristic of cystinuria? |
Kidney stones |
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Where can tetrodotoxin be found? |
In pufferfish |
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What does tetrodotoxin do to the body? |
Occupies and inactivates Na+ channels in nerves --> paralysis |
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What are side effects of tetrodotoxin? |
Dizziness and tingling around, ataxia, respiratory paralysis, death |
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What does cholera do to the body? |
Increase cAMP levels --> excess sodium and water loss --> diarrhea |
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What do venoms do? |
Inactivate acetylcholine receptors |
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What is spherocytosis? |
Fragile, misshaped blood cells resulting from a defective spectrin |
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Name this disorder |
Down's syndrome Trisomy 21 |
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What is Klinefelter's syndrome? |
Aneuploidy of sex chromosomes (XXY) |
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What are Klinefelter's syndrome characteristics? |
Infertility, degree of masculinization and small testes |
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Name the disorder |
Klinefelter's syndrome (XXY) |
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What is Turner's syndrome? |
Monosomy of the sex chromosomes (XO) |
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What are Turner's syndrome characteristics? |
Small stature, sterility |
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Is Turner's syndrome compatible with life? |
Yes, unlike other monosomy |
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Name the disorder |
Turner's Syndrome (XO) |
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What is the basis of chemotherapy? |
Blocking purine and pyrimidine synthesis --> arresting cells in S phase |
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What is Tay-Sach's disease? |
Glycolipid accumulation in the nervous system |
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What is Hurler's Syndrome? |
GAG accumulation in tissues |
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What is characteristic feature of the eye in Tay Sach's disease? |
Cherry red macular spot surrounded by white opaque area of degenerated retina |
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What is another name for Zellweger's Syndrome? |
Cerebrohepatorenal Syndrome |
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What is Zellweger's Syndrome? |
Inherited disorder of peroxisome biosynthesis --> abnormal myelination |
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What happens to Tau proteins in Alzheimer's disease? |
Get phosphorylated and increase to toxic levels |
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What is a valuable marker for astrocyte identification? |
Glial fibrillary acidic protein (GFAP) |
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What is the most common brain tumor? |
Astrocytoma |
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What is the defect in Ehler's Danlos syndrome? |
Type 3 collagen |
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What is the defect in Marfan's syndrome? |
Decreased elastic fibers (Fibrillin-1 gene) |
