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Scatter plot of FOS-MSSI score versus age (in years) at last FOS-MSSI score assessment, showing values for children with (in red) and without (in black) any eye findings. (PDF 964Â kb)

Altres ajuts: Medical writing support was provided by Margit Rezabek, DVM, PhD, of Excel Scientific Solutions and was funded by Shire. Shire was given the opportunity to review the manuscript. Ocular signs of Fabry disease can be seen in the first decade of life. We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). At least one ocular sign was found in 55/101 (54.5%) girls and 62/131 (47.3%) boys: cornea verticillata in 53/101 (52.5%) girls and 55/131 (42.0%) boys, vessel tortuosity in 17/98 (17.3%) girls and 32/131 (24.4%) boys, and posterior spoke-like lens opacities in 3/97 (3.1%) girls and 2/130 (1.5%) boys. Summary statistics showed higher median (range) age-adjusted FOS-MSSI total score indicating more severe disease in children with eye findings versus those without eye findings (0.5 [−11.0, 20.7] versus −2.3 [−11.1, 18.8]). At least one eye finding was observed in 59.1% of treated and 37.9% of untreated children. We conclude that the presence of ocular signs, particularly cornea verticillata, correlates with more severe disease as indicated by FOS-MSSI scores in paediatric patients with Fabry disease. Ocular signs appear in roughly half of school-aged children with Fabry disease and are well-recognised as a valuable tool for diagnosis of Fabry disease in children; they also may help identify patients who are at risk for developing early severe manifestations of Fabry disease and who should be further evaluated and closely followed up. The online version of this article (doi:10.1186/s12886-016-0374-2) contains supplementary material, which is available to authorized users.

List of ethics committees that approved the study. (PDF 30Â kb)

Udgivelsesdato: 2010-Feb BACKGROUND AND PURPOSE: The number of national arthroplasty registries is increasing. However, the methods of registration, classification, and analysis often differ. METHODS: We combined data from 3 Nordic knee arthroplasty registers, comparing demographics, methods, and overall results. Primary arthroplasties during the period 1997-2007 were included. Each register produced a dataset of predefined variables, after which the data were combined and descriptive and survival statistics produced. RESULTS: The incidence of knee arthroplasty increased in all 3 countries, but most in Denmark. Norway had the lowest number of procedures per hospital-less than half that of Sweden and Denmark. The preference for implant brands varied and only 3 total brands and 1 unicompartmental brand were common in all 3 countries. Use of patellar button for total knee arthroplasty was popular in Denmark (76%) but not in Norway (11%) or Sweden (14%). Uncemented or hybrid fixation of components was also more frequent in Denmark (22%) than in Norway (14%) and Sweden (2%). After total knee arthroplasty for osteoarthritis, the cumulative revision rate (CRR) was lowest in Sweden, with Denmark and Norway having a relative risk (RR) of 1.4 (95% CI: 1.3-1.6) and 1.6 (CI: 1.4-1.7) times higher. The result was similar when only including brands used in more than 200 cases in all 3 countries (AGC, Duracon, and NexGen). After unicompartmental arthroplasty for osteoarthritis, the CRR for all models was also lowest in Sweden, with Denmark and Norway having RRs of 1.7 (CI: 1.4-2.0) and 1.5 (CI: 1.3-1.8), respectively. When only the Oxford implant was analyzed, however, the CRRs were similar and the RRs were 1.2 (CI: 0.9-1.7) and 1.3 (CI: 1.0-1.7). INTERPRETATION: We found considerable differences between the 3 countries, with Sweden having a lower revision rate than Denmark and Norway. Further classification and standardization work is needed to permit more elaborate studies.

This thesis is based on 5 papers exploring the filtering problem in non-linear non-Gaussian state-space models together with applications of Sequential Monte Carlo (also called particle filtering) methods to the positioning in wireless networks. The aim of the first paper is to study the performance of particle filtering techniques in mobile positioning using signal strength measurements. Two different approaches for mobile movement(polar and Cartesian)were used, combined with two different models for the received signal strength. The results of the simulation study showed better performance for particle filters based on a power model with varying propagation coefficient. The filters based on the polar model for mobile movement were found to be more precise in terms of mean squared error, but at the same time were more computationally intensive. The second paper represents the results of a simulation study on mobile positioning in multiply input multiply output (MIMO) settings. Three different particles filters were implemented for the positioning, and simulation results showed that all filters were able to achieve estimation accuracy required by Federal Communication Commission (FCC). Moreover, since dimensionality of the particle filter state space does not depend on the antenna configuration, it is possible to apply described filters in more sophisticated MIMO setup without changing the algorithms. In the third paper we investigated an algorithm for particles filtering in multidimensional state-space models which are decomposable in the states. We demonstrated using the simulations that the algorithm effectively reduces the computational time without a large precision loss. It is known that the quality of sequential Monte Carlo estimation depends on the number of particles involved. In the paper four we explored different strategies to increase the number of particles: correlated sampling and observation-driven sampling. The correlated sampling approach was further investigated in the fifth paper, where we employed the idea of using antithetic variates. We introduced a version of the standard auxiliary particle filter and concluded, based on the theoretical developments, that the asymptotic variance of the produced Monte Carlo estimates can be decreased by means of antithetic techniques when the particle filter is closed to fully adapted, which involves approximation of the so-called optimal proposal kernel. As an illustration, the method was applied to optimal filtering in state-space models.