Extra Info From Study Flashcards
0
Q
CF prevalence
A
1 in 2500
1
Q
Prevalence of PKU
A
1 in 14000
2
Q
Prevalence of Ehlers Danlos syndrome
A
1 in 10000
3
Q
Causes of thrombophilia
A
- genetic
- anti phospholipid
- malignancy
- pregnancy or high oestrogen
4
Q
Pro coagulation genetic causes
A
Leiden mutation
Pro thrombin mutation
Reduced anti thrombin, protein c or I
Increased factor 8
5
Q
Result of congenital rubella syndrome
A
Microcephaly
Cataracts
Congenital heart defects
Deafness
6
Q
Viruses that interfere PKR pathway through interferons
A
- Adenovirus and EBV - interfere with PKR by making abundant small stretches of RNA
- reovirus and vaccinia - interfere with dsDNA cofactor
- vaccinia - interferes with eIF2
