55 research outputs found

    CKD-MBD after kidney transplantation

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    Successful kidney transplantation corrects many of the metabolic abnormalities associated with chronic kidney disease (CKD); however, skeletal and cardiovascular morbidity remain prevalent in pediatric kidney transplant recipients and current recommendations from the Kidney Disease Improving Global Outcomes (KDIGO) working group suggest that bone disease—including turnover, mineralization, volume, linear growth, and strength—as well as cardiovascular disease be evaluated in all patients with CKD. Although few studies have examined bone histology after renal transplantation, current data suggest that bone turnover and mineralization are altered in the majority of patients and that biochemical parameters are poor predictors of bone histology in this population. Dual energy X-ray absorptiometry (DXA) scanning, although widely performed, has significant limitations in the pediatric transplant population and values have not been shown to correlate with fracture risk; thus, DXA is not recommended as a tool for the assessment of bone density. Newer imaging techniques, including computed tomography (quantitative CT (QCT), peripheral QCT (pQCT), high resolution pQCT (HR-pQCT) and magnetic resonance imaging (MRI)), which provide volumetric assessments of bone density and are able to discriminate bone microarchitecture, show promise in the assessment of bone strength; however, future studies are needed to define the value of these techniques in the diagnosis and treatment of renal osteodystrophy in pediatric renal transplant recipients

    New insights into the genetic etiology of Alzheimer's disease and related dementias

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    Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

    Genetic architecture of human plasma lipidome and its link to cardiovascular disease

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    Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 x10(-8)), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD

    MyoGym:introducing an open gym data set for activity recognition collected using myo armband

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    Abstract The activity recognition research has remained popular although the first steps were taken almost two decades ago. While the first ideas were more like a-proof-of-concept studies the area has become a fruitful soil to novel methods of machine learning, to adaptive modeling, signal fusion and several different types of application areas. Nevertheless, one of the slowing aspects in methodology development is the burden in collecting and labeling enough versatile data sets. In this article, a MyoGym data set is introduced to be used in activity recognition classifier development, in development of models for unseen activities, in signal fusion, and many other areas not yet known. The data set includes 6D motion signals and 8 channel electromyogram data from 10 persons and from 30 different gym exercises, each of them consisting a set of ten repetitions. The benchmark results provided, in this article, are in purpose made straightforward that their repetitiveness should be easy for any newcomer in the area

    Experiences with publicly open human activity data sets:studying the generalizability of the recognition models

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    Abstract In this article, it is studied how well inertial sensor-based human activity recognition models work when training and testing data sets are collected in different environments. Comparison is done using publicly open human activity data sets. This article has four objectives. Firstly, survey about publicly available data sets is presented. Secondly, one previously not shared human activity data set used in our earlier work is opened for public use. Thirdly, the genaralizability of the recognition models trained using publicly open data sets are experimented by testing them with data from another publicly open data set to get knowledge to how models work when they are used in different environment, with different study subjects and hardware. Finally, the challenges encountered using publicly open data sets are discussed. The results show that data gathering protocol can have a statistically significant effect to the recognition rates. In addition, it was noted that often publicly open human activity data sets are not as easy to apply as they should be

    OpenHAR:a Matlab toolbox for easy access to publicly open human activity data sets

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    Abstract This study introduces OpenHAR, a free Matlab toolbox to combine and unify publicly open data sets. It provides an easy access to accelerometer signals of ten publicly open human activity data sets. Data sets are easy to access as OpenHAR provides all the data sets in the same format. In addition, units, measurement range and labels are unified, as well as, body position IDs. Moreover, data sets with different sampling rates are unified using downsampling. What is more, data sets have been visually inspected to find visible errors, such as sensor in wrong orientation. OpenHAR improves re-usability of data sets by fixing these errors. Altogether OpenHAR contains over 65 million labeled data samples. This is equivalent to over 280 hours of data from 3D accelerometers. This includes data from 211 study subjects performing 17 daily human activities and wearing sensors in 14 different body positions

    From user-independent to personal human activity recognition models using smartphone sensors

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    Abstract In this study, a novel method to obtain user-dependent human activity recognition models unobtrusively by using the sensors of a smartphone is presented. The recognition consists of two models: sensor fusion-based user-independent model for data labeling and single sensor-based user-dependent model for final recognition. The functioning of the presented method is tested with human activity data set, including data from accelerometer and magnetometer, and with two classifiers. Comparison of the detection accuracies of the proposed method to traditional user-independent model shows that the presented method has potential, in nine cases out of ten it is better than the traditional method, but more experiments using different sensor combinations should be made to show the full potential of the method
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