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1.
  • Tesi, B., et al. (författare)
  • Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
  • 2015
  • Ingår i: Genome Medicine. - : Springer Science and Business Media LLC. - 1756-994X. ; 7:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics. Methods: A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with previously identified HLH-associated mutations and prospectively evaluated in 58 HLH patients. Moreover, 2504 healthy individuals from the 1000 Genomes project were analyzed in silico for variants in the same genes. Results: Analyses revealed a mutation detection sensitivity of 97.3 %, an average coverage per gene of 98.0 %, and adequate coverage over 98.6 % of sites previously reported as mutated in these genes. In the prospective cohort, we achieved a diagnosis in 22 out of 58 patients (38 %). Genetically undiagnosed HLH patients had a later age at onset and manifested higher frequencies of known secondary HLH triggers. Rare, putatively pathogenic monoallelic variants were identified in nine patients. However, such monoallelic variants were not enriched compared with healthy individuals. Conclusions: We have established a comprehensive high-throughput platform for genetic screening of patients with HLH. Almost all cases with reduced natural killer cell function received a diagnosis, but the majority of the prospective cases remain genetically unexplained, highlighting genetic heterogeneity and environmental impact within HLH. Moreover, in silico analyses of the genetic variation affecting HLH-related genes in the general population suggest caution with respect to interpreting causality between monoallelic mutations and HLH. A complete understanding of the genetic susceptibility to HLH thus requires further in-depth investigations, including genome sequencing and detailed immunological characterization.
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  • Kuopanportti, Pekko, et al. (författare)
  • Core sizes and dynamical instabilities of giant vortices in dilute Bose-Einstein condensates
  • 2010
  • Ingår i: Physical Review A. Atomic, Molecular, and Optical Physics. - : American Physical Society. - 1050-2947 .- 1094-1622. ; 81:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Motivated by a recent demonstration of cyclic addition of quantized vorticity into a Bose-Einstein condensate, the vortex pump, we study dynamical instabilities and core sizes of giant vortices. The core size is found to increase roughly as a square-root function of the quantum number of the vortex, whereas the strength of the dynamical instability either saturates to a fairly low value or increases extremely slowly for large quantum numbers. Our studies suggest that giant vortices of very high angular momenta may be achieved by gradually increasing the operation frequency of the vortex pump.
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