183 research outputs found

    Clinical Study Interferon Alpha Association with Neuromyelitis Optica

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    Interferon-alpha (IFN-) has immunoregulatory functions in autoimmune inflammatory diseases. The goal of this study was to determine occurrence and clinical consequences of IFN-in neuromyelitis optica (NMO) patients. Thirty-six NMO and 41 multiple sclerosis (MS) patients from a population-based retrospective case series were included. Expanded Disability Status Scale (EDSS) score and MRI findings determined disease activity. Linear regression was used to assess the effects of the level of IFN-on disability (EDSS). IFN-was determined by sensitive ELISA assays. IFN-was detectable in sera from 9/36 NMO patients, significantly more often than in the MS group (2/41) ( = 0.0197). A higher frequency of IFN-was observed in NMO patients with acute relapse compared to NMO patients in remission ( < 0.001) and compared to the MS patients with relapse ( = 0.010). In NMO patients, the levels of IFN-were significantly associated with EDSS ( = 0.0062). It may be concluded that IFN-was detectable in a subgroup of NMO patients. Association of IFN-levels with clinical disease activity and severity suggests a role for IFN-in disease perpetuation and may provide a plausible explanation for a negative effect of IFN-1 treatment in NMO patients

    MixFit : Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies

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    Ancestry information at the individual level can be a valuable resource for personalized medicine, medical, demographical and history research, as well as for tracing back personal history. We report a new method for quantitatively determining personal genetic ancestry based on genome-wide data. Numerical ancestry component scores are assigned to individuals based on comparisons with reference populations. These comparisons are conducted with an existing analytical pipeline making use of genotype phasing, similarity matrix computation and our addition-multidimensional best fitting by MixFit. The method is demonstrated by studying Estonian and Finnish populations in geographical context. We show the main differences in the genetic composition of these otherwise close European populations and how they have influenced each other. The components of our analytical pipeline are freely available computer programs and scripts one of which was developed in house.Peer reviewe
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