Multidimensional integrative data analysis of digital phenotyping is crucial for elucidating the pathologies of multifactorial and heterogeneous diseases, such as the dry eye (DE). This crowdsourced cross-sectional study explored a novel smartphone-based digital phenotyping strategy to stratify and visualize the heterogenous DE symptoms into distinct subgroups. Multidimensional integrative data were collected from 3,593 participants between November 2016 and September 2019. Dimension reduction via Uniform Manifold Approximation and Projection stratified the collected data into seven clusters of symptomatic DE. Symptom profiles and risk factors in each cluster were identified by hierarchical heatmaps and multivariate logistic regressions. Stratified DE subgroups were visualized by chord diagrams, co-occurrence networks, and Circos plot analyses to improve interpretability. Maximum blink interval was reduced in clusters 1, 2, and 5 compared to non-symptomatic DE. Clusters 1 and 5 had severe DE symptoms. A data-driven multidimensional analysis with digital phenotyping may establish predictive, preventive, personalized, and participatory medicine.
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http://dx.doi.org/10.1038/s41746-021-00540-2 | DOI Listing |
Introduction: Structural variants (SVs) of the nebulin gene ( ), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .
View Article and Find Full Text PDFGastro Hep Adv
September 2024
Department of Surgery, The University of Auckland, Auckland, New Zealand.
Background And Aims: Gastric Alimetry™ (Alimetry, New Zealand) is a new clinical test for gastroduodenal disorders involving simultaneous body surface gastric electrical mapping and validated symptom profiling. Studies have demonstrated a range of distinct pathophysiological profiles, and a classification scheme is now required. We used Gastric Alimetry spectral and symptom profiles to develop a mechanism-based test classification scheme, then assessed correlations with symptom severity, psychometrics, and quality of life.
View Article and Find Full Text PDFExp Hematol Oncol
January 2025
Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.
Background: Radiotherapy is the primary treatment modality for most head and neck cancers (HNCs). Despite the addition of chemotherapy to radiotherapy to enhance its tumoricidal effects, almost a third of HNC patients suffer from locoregional relapses. Salvage therapy options for such recurrences are limited and often suboptimal, partly owing to divergent tumor and microenvironmental factors underpinning radioresistance.
View Article and Find Full Text PDFBreast Cancer Res
January 2025
School of Electronic Engineering and Computer Science, Queen Mary University of London, London, UK.
Recent evidence indicates that endocrine resistance in estrogen receptor-positive (ER+) breast cancer is closely correlated with phenotypic characteristics of epithelial-to-mesenchymal transition (EMT). Nonetheless, identifying tumor tissues with a mesenchymal phenotype remains challenging in clinical practice. In this study, we validated the correlation between EMT status and resistance to endocrine therapy in ER+ breast cancer from a transcriptomic perspective.
View Article and Find Full Text PDFEur Geriatr Med
January 2025
Institute for Health Development, Medical School of Nantong University, Affiliated Hospital of Nantong University, 20 Xisi Road, Nantong, 226001, China.
The aim of this study is to investigate the association between four phenotypes of sarcopenia/obesity in older individuals and functional disability, malnutrition, and all-cause mortality. This study is a cross-sectional study, survival is 3 years. A total of 487 Chinese older adults were included with 283 (58.
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