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21 Cards in this Set
- Front
- Back
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UGT1A1
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Bilirubin-UDP-glucuronosyltransferase 1 gene
mutation leads to non-hemolytic jaundice (& kernicterus) Crigler-Najjar I Syndrome (auto recessive) |
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Crigler-Najjar Type I vs II
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Type I: no response to phenobarbital (↑ enzymes)
Type II: respond to phenobarbitol, some conjugated bilirubin (to glucuronide, typically lower unconj levels, but some overlap) |
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Kernicterus symptoms
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deep jaundice (also below abdomen)
sleepy/difficult to arouse frequent crying decreased muscle tone (hypotonic/floppy) episodes of hypertonicity |
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Cri du chat syndrome symptoms
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low birth weight
high pitched cry microcephaly round face wide eyes cleft lip/palate |
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Cri du chat genetics
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deletion of 5p15 (-5p15), sporadic/de novo mutation
lose CTNND2 (dendrite migration) lose SEMA5A (axon migration) lose hTERT (telomerase reverse transcriptase) |
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Parkinson's histology
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lewy bodies (clusters of alpha synuclein in PD & AD) in nerve cells
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Parkinson's genetics
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SNCA (auto dom): maintains supply of presynaptic vesicles
LRRK2 (auto dom): cytoskeleton leucine rich repeats PARK2 (auto recessive): coding parkin-ligand for ubiquitin (for signaling degrading in proteosome) |
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Hungtingon genetics
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Auto dominant
HTT repeats (increase = worse) HuntingTIN = gene |
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LHON genetics
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MT-ND1 (mitochondrial NADH dehyrogenase): part of complex 1 in ETC
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LHON treatment
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Idebenone
hard c/o cannot correct mutation |
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Wilson disease signs
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Kayser-fleischer ring
difficulty speaking tremor MRI: enhanced basal ganglia (c/o Cu deposits) |
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Kayser-Fleischer rings
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copper ring around descemets membrane of cornea
brown, golden, red-green (1-3mm) indicates Wilson's disease |
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Wilson disease genetics
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Auto recessive
ATP7B gene (dysfunctional Cu transporter) -> accum in liver then elsewhere |
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Alzheimer's Disease histo
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Neuritic plaque & Neurofibrillary tangles (arrowheads)
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Alzheimer's Disease genetics
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5-10% familial, most sporadic
APP (amyloid precursor protein): mutates -> longer & stickier PSEN1: helps cut APP (mutation -> early Alzheimers)' |
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ALS signs/symptoms
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Increasing muscle weakness (arms/legs)
later: speech difficulty, dysphagia, breathing muscle atropy (limbs look "thinner") stiff muscles & hyperreflexia |
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ALS treatment
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Riluzole (slows progression)
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ALS Genetics
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auto dominant: Point mutation in SOD1 (superoxide dismutase) on chrom 21
auto recessive: inbred middle east/north african - ALS2 gene on Chrom 2q33 |
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Neurofibromatosis types
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Type 1: 2 or more neurofibromas, freckled groin/axilla, Café au lait spots
Mutation in NF1: codes neurofibromin Type 2: hearing loss around age 20, headache, balance/vertigo NF2 gene: merlin mutations -> tumors, acoustic neuromas on CN VIII |
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Brain cancer signs
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Persistant headaches
vomiting (w/o nausea) altered concsciousness dilation of one pupil papilledema focal neurologic symptoms |
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Brain cancer genetics
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Gain of chrom 7 or loss of chrom 10 (more than 60% of GBM samples)
GBM = Glioblastoma Multiforme ErbB4 overexpression in 75% ErbB2 overexpression in more than 75% EGFRvIII mutation in 80% of GBM |
