21) Diagnosis of congenital diseases and defects Flashcards
1
Q
Congenital disease
A
Disorders or abnormalities in skeleton or body functions
2
Q
List the methods of diagnosis of congenital diseases and defects
A
- Phenotype screening
- Clinical screening
3
Q
Phenotype screening
A
- Laboratory analysis
- Can be difficult due to enzyme variations, haematology etc.
- Decreased 50% of normal enzyme level can still ensure normal function
4
Q
Examples of phenotype screening
A
- Biochemical
- Measuring:
- Polypeptides
- Metabolites
- Enzyme activity
5
Q
Clinical screening examples
A
- X-ray
- Endoscopy
- Liver function
- Kidney clearance
- Ophthalmology
6
Q
Examples of diseases detected with clinical screening
A
- Mannosidosis
- PRA
- Halothane test
7
Q
Mannosidosis
A
- Lysosomal storage disease (enzyme deficiency)
- Tests enzyme activity in blood cells
- If decreased, diagnosis is made (in cattle mostly)
8
Q
PRA
A
- Progressive retinal atrophy
- Cataracts in dog
9
Q
Halothane test
A
- Used to test for porcine stress syndrome
- Reaction to breathing halothane at 7 weeks old
