12 research outputs found

    Adopting Digital Technology in Midwifery Practice – Experiences and Perspectives From Six Projects in Eight Countries (2014 – 2016)

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    This paper describes the cases of six midwifery projects of the Women Observatory for eHealth at the Millennia2025 Women and Innovation Foundation, to support the adoption of information and communication technologies (ICTs) in midwifery practice in eight countries from 2014 to 2016. The WeObservatory is a digital inclusion incubator aimed at reducing maternal and neonatal mortality in countries with limited resources by strengthening midwifery practice through the access to ICTs and eHealth applications. This paper describes how the collaboration with the WeObservatory supported these projects in the development and adoption of digital solutions for midwifery practice. It examines responses from the project leaders to an online survey conducted by the WeObservatory in January of 2018. Their responses provide insights on opportunities and challenges faced by these projects that can inform future midwifery eHealth projects. Building capacity among midwives for the adoption of digital competencies will help improve the quality of healthcare provided to mothers and their newborn babies in low-income countries

    Traitement de la maladie des membranes hyalines par du surfactant exogène

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    CHATENAY M.-PARIS 11-BU Pharma. (920192101) / SudocSudocFranceF

    A data science platform to enable time-domain astronomy

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    International audienceSkyPortal is an open-source platform designed to efficiently discover interesting transients, manage follow-up, perform characterization, and visualize the results, all in one application. By enabling fast access to archival and catalog data, cross-matching heterogeneous data streams, and the triggering and monitoring of on-demand observations for further characterization, SkyPortal has been operating at scale for > 2 yr for the Zwicky Transient Facility Phase II community, with hundreds of users, containing tens of millions of time-domain sources, interacting with dozens of telescopes, and enabling community reporting. While SkyPortal emphasizes rich user experiences (UX) across common frontend workflows, recognizing that scientific inquiry is increasingly performed programmatically, SkyPortal also surfaces an extensive and well-documented API system. From backend and frontend software to data science analysis tools and visualization frameworks, the SkyPortal design emphasizes the re-use and leveraging of best-in-class approaches, with a strong extensibility ethos. For instance, SkyPortal now leverages ChatGPT large-language models (LLMs) to automatically generate and surface source-level human-readable summaries. With the imminent re-start of the next-generation of gravitational wave detectors, SkyPortal now also includes dedicated multi-messenger features addressing the requirements of rapid multi-messenger follow-up: multi-telescope management, team/group organizing interfaces, and cross-matching of multi-messenger data streams with time-domain optical surveys, with interfaces sufficiently intuitive for the newcomers to the field. (abridged

    A Data Science Platform to Enable Time-domain Astronomy

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    SkyPortal is an open-source software package designed to discover interesting transients efficiently, manage follow-up, perform characterization, and visualize the results. By enabling fast access to archival and catalog data, crossmatching heterogeneous data streams, and the triggering and monitoring of on-demand observations for further characterization, a SkyPortal -based platform has been operating at scale for >2 yr for the Zwicky Transient Facility Phase II community, with hundreds of users, containing tens of millions of time-domain sources, interacting with dozens of telescopes, and enabling community reporting. While SkyPortal emphasizes rich user experiences across common front-end workflows, recognizing that scientific inquiry is increasingly performed programmatically, SkyPortal also surfaces an extensive and well-documented application programming interface system. From back-end and front-end software to data science analysis tools and visualization frameworks, the SkyPortal design emphasizes the reuse and leveraging of best-in-class approaches, with a strong extensibility ethos. For instance, SkyPortal now leverages ChatGPT large language models to generate and surface source-level human-readable summaries automatically. With the imminent restart of the next generation of gravitational-wave detectors, SkyPortal now also includes dedicated multimessenger features addressing the requirements of rapid multimessenger follow-up: multitelescope management, team/group organizing interfaces, and crossmatching of multimessenger data streams with time-domain optical surveys, with interfaces sufficiently intuitive for newcomers to the field. This paper focuses on the detailed implementations, capabilities, and early science results that establish SkyPortal as a community software package ready to take on the data science challenges and opportunities presented by this next chapter in the multimessenger era

    An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

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    The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant tubulointerstitial kidney disease (ADTKD), while common low-impact variants strongly associate with kidney function and the risk of chronic kidney disease (CKD) in the general population. It is unknown whether intermediate-effect variants in UMOD contribute to CKD. Here, candidate intermediate-effect UMOD variants were identified using large-population and ADTKD cohorts. Biological and phenotypical effects were investigated using cell models, in silico simulations, patient samples, and international databases and biobanks. Eight UMOD missense variants reported in ADTKD are present in the Genome Aggregation Database (gnomAD), with minor allele frequency (MAF) ranging from 10-5 to 10-3. Among them, the missense variant p.Thr62Pro is detected in ∼1/1,000 individuals of European ancestry, shows incomplete penetrance but a high genetic load in familial clusters of CKD, and is associated with kidney failure in the 100,000 Genomes Project (odds ratio [OR] = 3.99 [1.84 to 8.98]) and the UK Biobank (OR = 4.12 [1.32 to 12.85). Compared with canonical ADTKD mutations, the p.Thr62Pro carriers displayed reduced disease severity, with slower progression of CKD and an intermediate reduction of urinary uromodulin levels, in line with an intermediate trafficking defect in vitro and modest induction of endoplasmic reticulum (ER) stress. Identification of an intermediate-effect UMOD variant completes the spectrum of UMOD-associated kidney diseases and provides insights into the mechanisms of ADTKD and the genetic architecture of CKD
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