72 research outputs found

    Deep phenotyping: symptom annotation made simple with SAMS.

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    Precision medicine needs precise phenotypes. The Human Phenotype Ontology (HPO) uses clinical signs instead of diagnoses and has become the standard annotation for patients\u27 phenotypes when describing single gene disorders. Use of the HPO beyond human genetics is however still limited. With SAMS (Symptom Annotation Made Simple), we want to bring sign-based phenotyping to routine clinical care, to hospital patients as well as to outpatients. Our web-based application provides access to three widely used annotation systems: HPO, OMIM, Orphanet. Whilst data can be stored in our database, phenotypes can also be imported and exported as Global Alliance for Genomics and Health (GA4GH) Phenopackets without using the database. The web interface can easily be integrated into local databases, e.g. clinical information systems. SAMS offers users to share their data with others, empowering patients to record their own signs and symptoms (or those of their children) and thus provide their doctors with additional information. We think that our approach will lead to better characterised patients which is not only helpful for finding disease mutations but also to better understand the pathophysiology of diseases and to recruit patients for studies and clinical trials. SAMS is freely available at https://www.genecascade.org/SAMS/

    Silicone Adhesives in Medical Applications

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    This chapter will review silicone based adhesive technologies, applications and characterization, emphasizing those self-adhesive materials often used in skin contact applications including transdermal drug delivery and wound care device attachment. The silicone pressure sensitive adhesives used in transdermal applications today are thermoplastic and based on silicone polymer and silicate resin chemistries. Previous research has suggested that some drugs readily diffuse through silicone adhesives, prompting their use in transdermal patches. A recently developed silicone acrylate hybrid adhesive technology combines polyacrylate and silicone molecular structures to form a stable, semi-interpenetrated network. This technology provides ease in formulating transdermal drug delivery systems through improved physical stability over simple blends of acrylate and silicone adhesives. The ability of some silicone adhesives to affix bandages without disrupting the wound bed upon removal has led to the wide acceptance of a third type of silicone adhesive technology that unlike the aforementioned thermoplastic materials is thermoset. This adhesive form is based on a platinum catalyzed, cross-linking reaction between vinyl functional and silicon-hydride functional silicone polymers. The various silicone adhesive types have been characterized via classical measurements of physical performances. Rheological techniques elucidated herein provide further understanding of the structure-property relationships previously unavailable using classical characterization approaches

    Food web de-synchronization in England's largest lake: an assessment based on multiple phenological metrics

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    Phenological changes have been observed globally for marine, freshwater and terrestrial species, and are an important element of the global biological ‘fingerprint’ of climate change. Differences in rates of change could desynchronize seasonal species interactions within a food web, threatening ecosystem functioning. Quantification of this risk is hampered by the rarity of long-term data for multiple interacting species from the same ecosystem and by the diversity of possible phenological metrics, which vary in their ecological relevance to food web interactions. We compare phenological change for phytoplankton (chlorophyll a), zooplankton (Daphnia) and fish (perch, Perca fluviatilis) in two basins of Windermere over 40 years and determine whether change has differed among trophic levels, while explicitly accounting for among-metric differences in rates of change. Though rates of change differed markedly among the nine metrics used, seasonal events shifted earlier for all metrics and trophic levels: zooplankton advanced most, and fish least, rapidly. Evidence of altered synchrony was found in both lake basins, when combining information from all phenological metrics. However, comparisons based on single metrics did not consistently detect this signal. A multimetric approach showed that across trophic levels, earlier phenological events have been associated with increasing water temperature. However, for phytoplankton and zooplankton, phenological change was also associated with changes in resource availability. Lower silicate, and higher phosphorus, concentrations were associated with earlier phytoplankton growth, and earlier phytoplankton growth was associated with earlier zooplankton growth. The developing trophic mismatch detected between the dominant fish species in Windermere and important zooplankton food resources may ultimately affect fish survival and portend significant impacts upon ecosystem functioning.We advocate that future studies on phenological synchrony combine data from multiple phenological metrics, to increase confidence in assessments of change and likely ecological consequences

    The response of temperate aquatic ecosystems to global warming: novel insights from a multidisciplinary project

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    This article serves as an introduction to this special issue of Marine Biology, but also as a review of the key findings of the AQUASHIFT research program which is the source of the articles published in this issue. AQUASHIFT is an interdisciplinary research program targeted to analyze the response of temperate zone aquatic ecosystems (both marine and freshwater) to global warming. The main conclusions of AQUASHIFT relate to (a) shifts in geographic distribution, (b) shifts in seasonality, (c) temporal mismatch in food chains, (d) biomass responses to warming, (e) responses of body size, (f) harmful bloom intensity, (f), changes of biodiversity, and (g) the dependence of shifts to temperature changes during critical seasonal windows

    Climate change and freshwater zooplankton: what does it boil down to?

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    Recently, major advances in the climate–zooplankton interface have been made some of which appeared to receive much attention in a broader audience of ecologists as well. In contrast to the marine realm, however, we still lack a more holistic summary of recent knowledge in freshwater. We discuss climate change-related variation in physical and biological attributes of lakes and running waters, high-order ecological functions, and subsequent alteration in zooplankton abundance, phenology, distribution, body size, community structure, life history parameters, and behavior by focusing on community level responses. The adequacy of large-scale climatic indices in ecology has received considerable support and provided a framework for the interpretation of community and species level responses in freshwater zooplankton. Modeling perspectives deserve particular consideration, since this promising stream of ecology is of particular applicability in climate change research owing to the inherently predictive nature of this field. In the future, ecologists should expand their research on species beyond daphnids, should address questions as to how different intrinsic and extrinsic drivers interact, should move beyond correlative approaches toward more mechanistic explanations, and last but not least, should facilitate transfer of biological data both across space and time
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