[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. There is no evidence for measuring the human chorionic gonadotropin (hCG) level as routine follow-up after salpingectomy, but it is important to be aware of the risk of PT and if in doubt measure the levels of hCG.

[Non-invasive prenatal testing is a breakthrough in prenatal screening]. / Noninvasiv prænatal test er et gennembrud inden for prænatal 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. Finally, the future aspects of implementing NIPT in the prenatal screening programme in Denmark are discussed.

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. We genotyped for 2 stabilizing genetic variants in the transthyretin gene (TTR), R104H and T119M, and determined the association of genotypes with plasma levels of transthyretin, measures of thyroid function, risk of vascular disease, and life expectancy. During a mean follow-up of 32 years, 10 636 participants developed vascular disease. We identified 321 heterozygotes for T119M (frequency, 0.47%); R104H was not detected. First, mean plasma transthyretin and thyroxine levels were increased by 17% (26 µg/mL) and 20% (19 nmol/L), respectively, in heterozygotes versus noncarriers (P=0.007 and P<0.0001), demonstrating functionality of this variant in the general population. Second, corresponding hazard ratios were 0.70 (95% confidence interval, 0.51-0.97) for all vascular diseases, 0.85 (0.59-1.23) for cardiovascular disease, 0.45 (0.25-0.81) for cerebrovascular disease, 0.47 (0.25-0.88) for ischemic cerebrovascular disease, and 0.31 (0.04-2.22) for hemorrhagic stroke. The cumulative incidence of cerebrovascular disease as a function of age was decreased in heterozygotes versus noncarriers (P=0.005). Third, median age at death from all causes, from vascular and cerebrovascular diseases, and after diagnosis of vascular disease, and median age at diagnosis of vascular disease, was increased by 5 to 10 years in heterozygotes versus noncarriers (P=0.002-0.05). CONCLUSIONS: These results are compatible with an association between genetic stabilization of transthyretin and decreased risk of cerebrovascular disease, and with increased life expectancy in the general population.

Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.

BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease. We tested the hypothesis that heterozygosity for R1141X, the most frequent PXE-causing mutation in Caucasians, associated with risk of ischemic vascular disease, as previous studies suggested 4- to 11-fold risk of ischemic heart disease (IHD) in heterozygotes. METHODS AND RESULTS: We studied 10,276 persons from the general population, including 1985 with IHD and 989 with ischemic cerebrovascular disease (ICVD). We examined 45,603 individuals from a cross-sectional general population study, of whom 3738 had IHD and 2335 had ICVD. Finally, we compared 4851 patients with IHD and 625 patients with ICVD with, respectively, 4851 and 625 matched control subjects. We genotyped participants in all studies for ABCC6 R1141X. The frequency of R1141X was 0.6% in all populations studied. ABCC6 R1141X genotype was not associated with an increased risk of IHD, myocardial infarction, ICVD, or ischemic stroke. Furthermore, R1141X genotype did not interact with age on risk of the largest end point, IHD. Finally, R1141X genotype did not associate with variation in plasma levels of high-sensitivity C-reactive protein, fibrinogen, blood pressure, or lipid and lipoproteins in the general population. CONCLUSIONS: In 4 studies including 66 831 participants and 13 642 cases with ischemic vascular events, heterozygosity for ABCC6 R1141X did not associate with risk of IHD, myocardial infarction, ICVD, or ischemic stroke.

[Traumatic diaphragmatic rupture with displacement of the liver to the right hemithorax]. / Traumatisk diafragmaruptur med displacering af leveren til thorax.

We report a case of a traumatic diaphragmatic rupture with the liver displaced to the right hemithorax. MR diagnosed the rupture and the displacement of the liver. The patient was operated on and the total right diaphragmatic rupture was reconstructed by suturing. Traumatic diaphragmatic rupture may occur after high velocity accidents, especially after lateral collisions in traffic. Diagnosis may be delayed as a result of variable clinical and radiological signs. It is important to discover the rupture in the acute phase. Treatment is operative.