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Disease with problem in mismatch repair
Lynch syndrome
- HNPCC
- hallmark: microsatellite instability
Expected increase in Hg and Hct for every unit of packed RBC
For every unit of PRBC
- 10 points Hg
- 3 points Hct
Enzyme inhibited by 5-FU
Thymidylate synthase
Disease that has a problem with thymine dimers
Xeroderma pigmentosum - precursor to all skin CAs
Dacrocytes
Aka tear drop cells seen in Primary Myelofibrosis
Codocytes
Aka target cells
Echinocytes
Aka burr cells - RBCs with spikes
Protein absent in smooth muscle
Troponin
Functions as troponin c in smooth muscle
Calmodulin
Functions as troponin I in smooth muscle
Caldesmon
Calponin
Cyclooxygenase product that inhibits platelet aggregation and causes vasodilation
PGI2
Prostacyclin
Fabry’s disease - inheritance? Deficiency? What accumulates?
X-linked
Alpha- galactosidase
Globoside
Gaucher disease - inheritance? Deficiency? What accumulates?
AR
B-glucosidase
Glucocerebroside
Krabbe disease - inheritance? Deficiency? What accumulates?
AR
B-galactosidase
Galactocerebroside
Nieman Pick disease - inheritance? Deficiency? What accumulates?
AR
Sphingomyelinase
Sphingomyeline