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Sökning: WFRF:(Karlsson MK)

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  • Clark, DW, et al. (författare)
  • Associations of autozygosity with a broad range of human phenotypes
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
  • Tidskriftsartikel (refereegranskat)abstract
    • In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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  • Akesson, T, et al. (författare)
  • Displaced fractures of the neck of the radius in adults - An excellent long-term outcome
  • 2006
  • Ingår i: Journal of Bone and Joint Surgery: British Volume. - 2044-5377. ; 88B:5, s. 642-644
  • Tidskriftsartikel (refereegranskat)abstract
    • We have reviewed 20 women and three men aged 22 to 73 years, who had sustained a Mason type-lib fracture of the neck of the radius 14 to 25 years earlier. There were 19 patients with displacement of the fractures of 2 mm to 4 mm, of whom 13 had been subjected to early mobilisation and six had been treated in plaster for one to four weeks. Of four patients with displacement of 4 mm to 8 mm, three had undergone excision and one an open reduction of the head of radius. A total of 21 patients had no subjective complaints at follow-up, but two had slight impairment and occasional elbow pain. The mean range of movement and strength of the elbow were not impaired. The elbows had a higher prevalence of degenerative changes than the opposite side, but no greater reduction of joint space. Mason type-lib fractures have an excellent long-term outcome if operation is undertaken when the displacement of the fracture exceeds 4 mm.
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