Chest pain + Genetic Tests

Question 1

whats the diagnosis?
Sharp/ Stabbing chest pain + worse w/inspiration and lying flat

Answer 1

Pericarditis

Question 2

first treament for aortic disscection

type A and B

Answer 2

Stanford type B- Beta-blockers/ vasodilators
Type A- open surgery repair

Question 3

what are stanford A and B

Answer 3

proximal tear- Stanford A
Distal tear- Stanford B

Question 4

whats the diagnosis?
Persistent chest pain WORSE with movment, often follow Repetitive activity

Answer 4

costochondritis

an inflammation of the cartilage that connects a rib to the breastbone (sternum). Pain caused by costochondritis might mimic that of a heart attack or other heart conditions

Question 5

What can gene sequencing detect?

Answer 5

mut in Single gene (point mut&raquo_space; b-thalassemia)

Question 6

for what we use FISH?

Answer 6

target chromosomal abnormalities (duplication, deletion, trisomy) only what labled.

Question 7

what does chromosomal microarray assess?

Answer 7

identify targeted chomosomal abnormalities = microdeletion / microduplications

not balance translocation and only what we labeled

Question 8

what are the capabilites and limitation of karyotype analysis?

Answer 8

• detect large chromosomal abnormalities
• cant detect small chromosomal changes