39 research outputs found

    Implementing a multisite shared haemodialysis care programme

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    Adults receiving centre-based haemodialysis (HD) have low levels of patient activation which are associated with poorer outcomes. Shared haemodialysis care (SHC) describes an intervention whereby individuals are supported to undertake elements of their treatment to improve their activation levels and promote better self-care. This project aimed to increase the proportion of those performing SHC in seven HD centres within the Oxford Kidney Unit's catchment area. Sequential Plan-Do-Study-Act (PDSA) cycles effected change first in two central HD centres, in cycles 1 and 2, before rolling out to five satellite HD centres, in cycles 3 and 4. Cycle 1 explored and transformed staff perceptions regarding SHC using a questionnaire and teaching sessions while in cycle 2, staff partnered with patients to develop leaflets and noticeboards to improve awareness and participation. These interventions were then rolled out to the remaining HD centres in PDSA cycles 3 and 4. Other interventions included: Enrolling staff and patients in virtual training courses; designating SHC 'Champions'; engagement with a national SHC forum; and changes to the electronic patient record to enable the monitoring of patient SHC opportunity and to promote sustainable change. Outcome measurement data on the number of patients performing SHC and the number at different defined stages of SHC competency were captured monthly. In April 2022, only 4% (19/483) of those receiving centre-based HD performed any aspect of SHC. By the end of the project in December 2023, this had increased to 43% (220/511). There was a significant and sustained growth in the stage of patient SHC competency as well as the number of patients performing SHC in each HD centre. The project demonstrated that it is possible to implement, scale-up and maintain a multisite SHC programme even with little baseline staff and patient SHC experience

    Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

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    The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. The Boolean features selected by these logistic models were combined into an Integrated PolyGenic Score that offers a synthetic and interpretable index for describing the contribution of host genetics in COVID-19 severity, as demonstrated through testing in several independent cohorts. Selected features belong to ultra-rare, rare, low-frequency, and common variants, including those in linkage disequilibrium with known GWAS loci. Noteworthily, around one quarter of the selected genes are sex-specific. Pathway analysis of the selected genes associated with COVID-19 severity reflected the multi-organ nature of the disease. The proposed model might provide useful information for developing diagnostics and therapeutics, while also being able to guide bedside disease management. © 2021, The Author(s)

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Erratum: Corrigendum: Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

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    International Chicken Genome Sequencing Consortium. The Original Article was published on 09 December 2004. Nature432, 695–716 (2004). In Table 5 of this Article, the last four values listed in the ‘Copy number’ column were incorrect. These should be: LTR elements, 30,000; DNA transposons, 20,000; simple repeats, 140,000; and satellites, 4,000. These errors do not affect any of the conclusions in our paper. Additional information. The online version of the original article can be found at 10.1038/nature0315

    Impact of fluvial flooding on potentially toxic element mobility in floodplain soils 

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    &amp;lt;p&amp;gt;Climate projections suggest that rainfall events will become more frequent and intense, which may lead to more widespread flooding. Floodplains can be used to help reduce the magnitude of floods downstream by storing excess flood water, thus making them useful for flood risk management. This means that floodplains are subjected to repeated drying and rewetting, which has implications for biogeochemical cycling of chemical elements in floodplain soils.&amp;lt;/p&amp;gt;&amp;lt;p&amp;gt;Floodplains have been considered a sink for contaminants in urban catchments, where high river flows transport contaminated sediments downstream and deposit them onto the floodplain topsoil. With increasing flooding frequency and duration, floodplains may become sources of legacy pollution through desorption of contaminants into soil porewater or resuspension of particulate matter into the overlying floodwater. Therefore, flooding could re-mobilise potentially toxic elements (PTEs) such as Cadmium (Cd), Copper (Cu), Chromium (Cr), Nickel (Ni), and Lead (Pb) that are present in the floodplain soil as a result of historic deposition. Mobilising PTEs in floodplain soils may cause adverse ecological impacts for soil microorganisms, plants, and both terrestrial and aquatic fauna.&amp;lt;/p&amp;gt;&amp;lt;p&amp;gt;The mobility of PTEs from the floodplain soil can increase or decrease due to the net effect of five key processes that influence dispersion and accumulation; 1) soil redox potential for which decreases &amp;amp;#160;can directly alter the speciation, and hence mobility, of redox sensitive PTEs (e.g. As and Cr), 2) soil pH for which an increase usually reduces the mobility of metal cations (e.g. Cd&amp;lt;sup&amp;gt;2+&amp;lt;/sup&amp;gt;, Cu&amp;lt;sup&amp;gt;2+&amp;lt;/sup&amp;gt;, Ni&amp;lt;sup&amp;gt;2+&amp;lt;/sup&amp;gt;, Pb&amp;lt;sup&amp;gt;2+&amp;lt;/sup&amp;gt;), 3) dissolved organic matter which can mobilise PTEs were strongly bound to soil particles, 4) iron (Fe) and manganese (Mn) hydroxides undergo reductive dissolution, releasing adsorbed and co-precipitated PTEs, and 5) reduction of sulphate which immobilises PTEs due to precipitation of metal sulphides.&amp;lt;/p&amp;gt;&amp;lt;p&amp;gt;We took a field-based approach; extracting soil pore waters from a floodplain downstream of a typical urban catchment in southeast England before, during and after a flooding event. During the flood, there was increased mobility of Cd and Pb, and decreased mobility for Cu and Cr, compared to the mobility before flooding. After the flood, Ni mobility increased, whereas the other PTEs had lower mobility than they had prior to the flood. We also measured explanatory variables (e.g. pH, redox, Fe and Mn) that might explain the changes in mobility of PTEs that we found. Reductive dissolution of Mn is a possible mechanism for the increased mobility of Cd and Pb and redox likely played a role in the reduced Cr mobility.&amp;lt;/p&amp;gt;&amp;lt;p&amp;gt;Flooding did not influence the mobility of all PTEs in the same way. The duration of flooding is thought to influence the mobilisation due to the length of time for key processes to take place. It is therefore difficult to predict what PTEs might be mobilised into the environment with any given flooding event, further work is required to identify which soil properties should be measured in order to improve our capability to predict how a flooding event will influence the mobility of individual PTEs in geochemically contrasting floodplain soils.&amp;lt;/p&amp;gt;</jats:p
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