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See detailProgramme Démence Prévention (pdp ): A Nation-Wide Programme for Dementia Prevention in Luxembourg
Schröder, Valerie UL; Kaysen, Anne UL; Fritz, Joëlle UL et al

Poster (2020, April)

Objectives: To implement a multi-year nation-wide programme, by the means of a personalised lifestyle intervention, to prevent or to delay cognitive decline that can contribute to development of dementia ... [more ▼]

Objectives: To implement a multi-year nation-wide programme, by the means of a personalised lifestyle intervention, to prevent or to delay cognitive decline that can contribute to development of dementia in Luxembourg. Methods: Participants with mild cognitive impairment, referred to the programme by their treating physician, undergo an extensive cognitive evaluation by a neuropsychologist on relevant neuropsychological domains as well as a structured dementia risk factor assessment. Based on these assessments, individualised lifestyle interventions are offered by diverse national partners involved in the programme, thus filling a gap of not yet reimbursed services in the Luxemburgish healthcare system. After the personalised lifestyle interventions, each participant will undergo a neuropsychological follow-up in order to re-evaluate his/her health status in terms of cognition. Results: We established a participant-centred national network by presenting the programme on many outreach events and efficient stakeholder communication. The network raises the awareness of dementia prevention in the Luxembourgish population, fosters interdisciplinary communication between individual medical and non-medical healthcare professionals and allows for a successful recruitment of the target population. Moreover, we collect information about adherence to the suggested lifestyle changes, as well as the effectiveness of our interventions in reducing risk factors contributing to the onset of dementia. Conclusions: We provide evidence for the feasibility of the implementation of a nation-wide dementia prevention programme including diverse partners offering personalised lifestyle interventions, which are easily transferrable to other countries. Future results from this programme may also help to integrate prevention interventions into the regular healthcare system. [less ▲]

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See detailThe Human Phenotype Ontology in 2021.
Köhler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas et al

in Nucleic acids research (2020)

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human ... [more ▼]

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems. [less ▲]

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See detailThe Human Phenotype Ontology in 2017
Köhler, Sebastian; Vasilevsky, Nicole A.; Engelstad, Mark et al

in Nucleic Acids Research (2016)

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components ... [more ▼]

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology. [less ▲]

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