55 research outputs found

    Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis risk

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    Psoriasis vulgaris is a genetically heterogenous disease with unclear molecular background. We assessed the association of psoriasis and its main clinical phenotypes with common variants of three potential psoriasis susceptibility genes: ZNF750, RPTOR and TRAF31P2. We genotyped 10 common variants in a cohort of 1,034 case–control individuals using Taqman genotyping assays and sequencing. Minor alleles of all four TRAF3IP2 variants were more frequent among cases. The strongest, significant association was observed for rs33980500 (OR = 2.5, p = 0.01790). Minor allele of this SNP was always present in two haplotypes found to be associated with increased psoriasis risk: rs13196377_G + rs13190932_G + rs33980500_T + rs13210247_A (OR = 2.7, p = 0.0054) and rs13196377_A + rs13190932_A + rs33980500_T + rs13210247_G (OR = 1.8, p = 0.0008). Analyses of clinically relevant phenotypes revealed association of rs33980500 with pustular psoriasis (OR = 1.2, p = 0.0109). We observed significant connection of severity of cutaneous disease with variation at rs13190932 and suggestive with three remaining TRAF3IP2 SNPs. Another positive associations were found between age of onset and familial aggregation of disease: smoking and younger age of onset, smoking and occurrence of pustular psoriasis, nail involvement and arthropatic psoriasis, nail involvement and more severe course of psoriasis. We found no statistically significant differences in the prevalence of the examined variants of RPTOR and ZNF750 genes among our cases and controls. We have replicated the association of TRAF3IP2-_rs33980500 variant with the susceptibility to psoriasis. We have found new associations with clinically relevant subphenotypes such as pustular psoriasis or moderate-to-severe cases. We ascertain no connection of RPTOR and ZNF750 variants with psoriasis or its subphenotypes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00403-013-1407-9) contains supplementary material, which is available to authorized users

    Cytomorphology review of 100 newly diagnosed lower-risk MDS patients in the European LeukemiaNet MDS (EUMDS) registry reveals a high inter-observer concordance

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    Objectives To examine contemporary survival patterns in the general population of patients diagnosed with chronic myeloid leukaemia (CML), and to identify patient groups with less than optimal outcomes. Design Prospective population-based cohort. Setting The UK's Haematological Malignancy Research Network (catchment population 3.6 million, with >2000 new haematological malignancies diagnosed annually). Participants All patients newly diagnosed with CML, from September 2004 to August 2011 and followed up to 31 March 2013. Main outcome measure Incidence and survival. Results With a median diagnostic age of 59 years, the CML age standardised (European) incidence was 0.9/100 000 (95% CIs 0.8 to 0.9), 5-year overall survival was 78.9% (72.3 to 84.0) and 5-year relative survival 88.6% (81.0 to 93.3). The efficacy of treatment across all ages was clearly demonstrated; the relative survival curves for those under 60 and over 60 years being closely aligned. Survival findings were similar for men and women, but varied with deprivation; the age and sex adjusted HR being 3.43 (1.89 to 6.22) for deprivation categories 4–5 (less affluent) versus 1–3 (more affluent). None of these differences were attributable to the biological features of the disease. Conclusions When therapy is freely provided, population-based survival for CML is similar to that reported in clinical trials, and age loses its prognostic significance. However, although most of the patients with CML now experience close to normal lifespans, those living in more deprived areas tend to have poorer outcomes, despite receiving the same clinical care. A significant improvement in overall population outcomes could be achieved if these socioeconomic differences, which may reflect the treatment compliance, could be eliminated

    Current challenges and future perspectives in oral absorption research: An opinion of the UNGAP network

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    Although oral drug delivery is the preferred administration route and has been used for centuries, modern drug discovery and development pipelines challenge conventional formulation approaches and highlight the insufficient mechanistic understanding of processes critical to oral drug absorption. This review presents the opinion of UNGAP scientists on four key themes across the oral absorption landscape: (1) specific patient populations, (2) regional differences in the gastrointestinal tract, (3) advanced formulations and (4) food-drug interactions. The differences of oral absorption in pediatric and geriatric populations, the specific issues in colonic absorption, the formulation approaches for poorly water-soluble (small molecules) and poorly permeable (peptides, RNA etc.) drugs, as well as the vast realm of food effects, are some of the topics discussed in detail. The identified controversies and gaps in the current understanding of gastrointestinal absorption-related processes are used to create a roadmap for the future of oral drug absorption research

    Obliczanie czynnika absorpcji

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    Semi-automatic watershed merging method

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    Watershed transformation frequently produces over-segmented images. The authors propose a solution to this problem. It utilizes hierarchical cluster analysis for grouping watersheds which are treated as objects characterized by a number of attributes. Initially the watershed merging method was meant only for gray-scale images, but later it was adapted for colour images. This paper presents further extension of the method that allows it to either automatically select the numberof classes or to provide a hint as to which numbers in a specified range should be considered first.Segmentation quality assessment functions for colour images are presented. The results obtained using an extended watershed merging method are discussed. The examples of segmentations selected by the method, along with the graphs of assessment functions, are shown

    Comparison of the selected motion interpolation methods

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    Interpolacja jest jednym z kluczowych elementów wykorzystywanych w animacji komputerowej. Dobór odpowiedniej metody interpolacji wpływa na ruch animowanej postaci. Artykuł przedstawia wybrane metody interpolacji i porównuje je ze względu na czas wykonywania obliczeń oraz dokładność uzyskanych wyników. Algorytmy, które przeanalizowano to: metoda Catmula-Roma, zmodyfikowana metoda Catmulla-Roma oraz krzywe przejściowe między parabolami (blended parabolas). Eksperymenty numeryczne przeprowadzono za pomocą programu komputerowego napisanego w języku C++.Interpolation is one of key aspects of computer animation. The selection of the proper interpolation method influences motion of animated objects. The paper presents selected interpolation methods and compares them with respect to computation time and accuracy. The three algorithms that were analyzed are: Catmull-Rom Spline, modified Catmull-Rom Spline and Blended Parabolas method. Numerical experiments were performed using a program written in C++ language

    Adaptacyjny system falkowej kompresji obrazów z miarą TOPQS

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    Image compression is present in many aspects of everyday life. Compression rate and quality improvement are the two most prominent directions of ongoing research. The adaptive system presented in this paper is able to compress input images using various wavelets. It controls consecutive compression stages in a way that allows one to obtain the final image with the least visual deformities. The system's functionality is based on the perceptual measure, TOPQS (Tuned by Observers Picture Quality Scale).Zagadnienie kompresji obrazów jest obecne w wielu aspektach codziennego życia. Współczynnik kompresji i poprawa jakości są dwoma najbardziej znaczącymi kierunkami prowadzonych badań. Adaptacyjny system przedstawiony w artykule umożliwia kompresję obrazów z zastosowaniem rozmaitych transformat falkowych. Steruje kolejnymi etapami kompresji tak, aby uzyskać jak najmniej zniekształcony obraz wyjściowy. Funkcje systemu zostały oparte na percepcyjnej mierze TOPQS

    Comparison of segmentation quality assessment functions in context of color image over-segmentation reduction method

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    Artykuł dotyczy jednego z problemów transformacji wododziałowej, jakim jest nadmierna segmentacja (nadsegmentacja) obrazów. Przedstawia on porównanie funkcji oceny segmentacji, które były wykorzystywane do określenia jakości wyniku redukcji nadsegmentacji w obrazach poddanych działaniu transformacji wododziałowej. Przedstawiono krótko zaproponowaną wcześniej, a opartą na analizie skupień, metodę redukcji nadsegmentacji oraz scharakteryzowano zastosowane funkcje oceny. Dzięki wspomnianym funkcjom możliwy jest półautomatyczny wybór liczby klas w końcowej segmentacji. Wyniki porównania funkcji omówiono i zilustrowano za pomocą wykre-sów oraz przykładowych segmentacji obrazów testowych.The paper concerns one problem in watershed transformation: over-segmentation. It compares segmentation quality assesment functions used to assess the quality of over-segmentation reduction in images first segmented by means of watershed transformation. It presents briefly a method of over-segmentation reduction based on cluster analysis, a method proposed earlier by the authors. Using the above functions allows for semi-automatic selection of the number of classes in the final segmentation. Results are discussed and illustrated with charts and sample test images of segmentation
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