Transthyretin Tetramer Destabilization and Increased Mortality in the General Population.

Importance: Transthyretin tetramer destabilization is the rate-limiting step in the development of transthyretin cardiac amyloidosis, an underrecognized contributor to mortality in older adults.

Objective: To test the hypothesis that transthyretin tetramer destabilization is associated with all-cause and cardiovascular mortality in the general population.

Design, Setting, And Participants: In this cohort study including individuals aged 20 to 80 years, genetic data were analyzed from 2 similar prospective studies of the Danish general population, the Copenhagen City Heart Study (CCHS) and the Copenhagen General Population Study (CGPS).

[Persistent trophoblast tissue after salpingectomy].

We present a case of persistent trophoblast tissue (PT) five weeks after salpingectomy for tubal pregnancy. The fallopian tube-sparing method (salpingotomy) has a greater risk of PT than removal of the whole fallopian tube (salpingectomy) has. A 32-year-old woman was treated with salpingectomy on suspicion of a bleeding ectopic pregnancy and was readmitted due to PT.

[Non-invasive prenatal testing is a breakthrough in prenatal screening].

Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from the peripheral blood of the pregnant woman has become a possibility within recent years, but is not yet implemented in Denmark. NIPT has proven to be very efficient in the screening for especially trisomi 21. This article summarizes the basics behinds the most used NIPT techniques and describes which genetic conditions this method may detect.

Genetic stabilization of transthyretin, cerebrovascular disease, and life expectancy.

Objective: Transthyretin can cause amyloidosis attributable to destabilization of transthyretin tetramers in plasma. We tested the hypothesis that genetic stabilization of transthyretin associates with reduced risk of vascular disease and increased life expectancy.

Approach And Results: We included 68 602 participants from 2 prospective studies of the general population.