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  1. 5721

    Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy by Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu

    Published 2025-01-01
    “…In the other two male patients in whom MLPA suggested non‐contiguous exon duplications or deletions in the DMD gene, OGM characterized one case as a complex rearrangement and the other as a deletion within the DMD gene. Interpretation OGM is a valuable diagnostic tool for dystrophinopathy patients with negative results from conventional genetic tests. …”
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  2. 5722

    Seasonal Variation in the Intake of Food Groups and Nutrients in Japan: A Systematic Review and Meta-analysis by Riho Adachi, Fumi Oono, Mai Matsumoto, Xiaoyi Yuan, Kentaro Murakami, Satoshi Sasaki, Hidemi Takimoto

    Published 2025-02-01
    “…However, these results must be interpreted cautiously because of the high heterogeneity and limited representativeness.…”
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  3. 5723

    Recommendations of the Russian Gastroenterological Association on Clinical Use of High-Resolution Manometry in Diagnosis of Esophageal Disorders by V. T. Ivashkin, I. V. Mayev, A. S. Trukhmanov, O. A. Storonova, S. A. Abdulkhakov, D. N. Andreev, D. S. Bordin, E. R. Valitova, I. L. Klyaritskaya, V. V. Krivoy, Yu. A. Kucheryavyi, T. L. Lapina, S. V. Morozov, O. A. Sablin, E. V. Semenikhina, Yu. P. Uspenskiy, A. A. Sheptulin

    Published 2020-07-01
    “…Current recommendations of the Russian Gastroenterological Association on clinical use of high-resolution manometry in diagnosis of esophageal disorders are intended to assist in clinical decision making, terminology standardisation and interpretation of clinical data.Key points. In 2018, a joint meeting of the Russian Gastroenterological Association and Russian Neurogastroenterology and Motility Group approved unified terminology and classification of esophageal motor function disorders for high-resolution manometry diagnosis.Gastrointestinal patient complaints typically concern esophageal disorders such as dysphagia, regurgitation, heart-burn, chest pain or belching. …”
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  4. 5724

    The impact of the COVID-19 pandemic on time to treatment in head and neck cancer management: a systematic review by Malte Grumstrup Simonsen, Amanda-Louise Fenger Carlander, Kathrine Kronberg Jakobsen, Christian Grønhøj, Christian von Buchwald

    Published 2025-01-01
    “…Among these, two studies reported increased waiting times as well. Interpretation: The impact of the COIVD-19 pandemic on time to treatment was heterogenous and subject to considerable intercountry and interregional variations. …”
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  5. 5725

    Estimation of respiratory syncytial virus-associated hospital admissions in five European countries: a modelling studyResearch in context by Caroline Klint Johannesen, David Gideonse, Richard Osei-Yeboah, Toni Lehtonen, Ombeline Jollivet, Rachel A. Cohen, Arantxa Urchueguía-Fornes, María Herrero-Silvestre, Mónica López-Lacort, Rolf Kramer, Thea K. Fischer, Terho Heikkinen, Harish Nair, Harry Campbell, Michiel van Boven, Harish Nair, Hanna Nohynek, Anne Teirlinck, Louis Bont, Peter Openshaw, Andrew Pollard, Veena Kumar, Elizabeth Begier, Jim Janimak, Jenny Hendrix, Rolf Kramer, Alejandro Orrico Sánchez, Eva Molero

    Published 2025-04-01
    “…In older adults, substantial differences in the incidence of ICD-10 coded RSV hospitalisations were found, while the attributed RSV incidence was more comparable, ranging from approximately 100 per 100,000 in adults 65–74 years to 200 per 100,000 persons 75–84 years and 500 per 100,000 persons 85 years and older. Interpretation: RSV-attributed time series exhibit a high degree of synchronicity between participating countries, suggesting that this method for attribution addresses the known issues with underdiagnosis and misclassification. …”
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  6. 5726
  7. 5727

    Zero-Shot Remote Sensing Scene Classification Based on Automatic Knowledge Graph and Dual-Branch Semantic Correlation Supervision by Chao Wang, Jiajun Yang, Tanvir Ahmed, Yang Zhao, Tong Zhang, Bing Sun, Tao Xie, Jie Wang, Tianyu Chen

    Published 2025-01-01
    “…However, current graphs rely heavily on expert manual interpretation, making them susceptible to human biases and difficult to expand. …”
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  8. 5728

    Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer by Alice Faversani, Debora Manuelli, Davide Barteselli, Giulia Melloni, Carlo Santaniello, Luigi Corsaro, Luigi Corsaro, Davide Sacco, Davide Sacco, Davide Clerici, Laura Gargiulo, Fulvio Ferrara, Lucy Costantino

    Published 2025-02-01
    “…Although new ClinGen ENIGMA guidelines have been produced to provide tools for the accurate interpretation of variants in the BRCA1 and BRCA2 genes, defining the clinical significance of copy number variants, particularly duplications, remains a challenging goal that requires complex approaches to accurately determine the role of such variants. …”
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  9. 5729

    A global Corynebacterium diphtheriae genomic framework sheds light on current diphtheria reemergence by Hennart, Mélanie, Crestani, Chiara, Bridel, Sébastien, Armatys, Nathalie, Brémont, Sylvie, Carmi-Leroy, Annick, Landier, Annie, Passet, Virginie, Fonteneau, Laure, Vaux, Sophie, Toubiana, Julie, Badell, Edgar, Brisse, Sylvain

    Published 2023-08-01
    “…Genomic sequencing can inform on transmission routes and genotypes of concern, but currently, no standard approach exists to detect clinically important genomic features and to interpret emergence in the global C. diphtheriae population framework. …”
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  10. 5730

    Designing smartphone-based cognitive assessments for schizophrenia: Perspectives from a multisite study by Aishwarya Raje, Abhijit R. Rozatkar, Urvakhsh Meherwan Mehta, Ritu Shrivastava, Ameya Bondre, Manaal Amir Ahmad, Anshika Malviya, Yogendra Sen, Deepak Tugnawat, Anant Bhan, Tamonud Modak, Nabagata Das, Srilakshmi Nagendra, Erlend Lane, Juan Castillo, John A. Naslund, John Torous, Soumya Choudhary

    Published 2025-06-01
    “…Using smartphones to assess cognition in schizophrenia offers the advantages of convenience in that patients can complete assessments outside of the clinic, temporality in that longitudinal trends can be identified, and contextuality in that cognitive scores can be interpreted with other measures captured by the phone (e.g. sleep). …”
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  11. 5731

    Mapping decision-making pathways: Determination of intervention entry points for diagnostic tests in suspected serious infection [version 2; peer review: 2 approved] by Raasti Naseem, Sara Pretorius, Nicola Howe, Clare Lendrem, Cameron Williams, Enitan D Carrol, Philip Pallmann

    Published 2025-01-01
    “…The “ideal” test should be rapid, point-of-care, cheap to procure, have capacity for high usability, and ability to be performed and interpreted by all staff. Facilitators to the adoption of infection diagnostic tests is their clinical need, and the main potential barrier is poor change management and behavioural change. …”
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  12. 5732

    Use of Digital Health Interventions for Cancer Prevention Among People Living With Disabilities in the United States: A Scoping Review by Chinenye Lynette Ejezie, Lea Sacca, Sylvia Ayieko, Sara Burgoa, Yasmine Zerrouki, Diana Lobaina, Goodness Okwaraji, Christine Markham

    Published 2025-01-01
    “…The common outcome of interest across all manuscripts was intervention efficacy. Interpretation Overall, limited research is available to evaluate the use of digital health for cancer prevention among people with disabilities. …”
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  13. 5733

    Sexual distress among men with cancer – a cross-sectional study by Jonas Nahavandipour, Christoffer Johansen, Annamaria Giraldi, Bolette Skjøft Rafn, Annika von Heymann

    Published 2025-02-01
    “…Two thirds of all patients wished for help, but only one third of these were receiving help. Interpretation: Sexual distress was widespread in men across different cancer diagnoses and sometimes presented without impairment, demonstrating that assessment of sexual problems must include the personal experience of distress and extend to men across cancer diagnoses. …”
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  14. 5734

    Easy, fast and reproducible Stochastic Cellular Automata with chouca by Génin, Alexandre, Dupont, Guillaume, Valencia, Daniel, Zucconi, Mauro, Ávila-Thieme, M. Isidora, Navarrete, Sergio A., Wieters, Evie A.

    Published 2024-10-01
    “…To provide a unifying, well-tested technical basis to this class of models and facilitate their implementation, we built chouca, an R package that translates definitions of SCA models into compiled code, and runs simulations in an efficient way. chouca supports SCA based on rectangular grids where transition probabilities are defined for each cell, with performance typically two to three orders of magnitude above typical implementations in interpreted languages (e.g. R, Python), all while maintaining an intuitive interface in the R environment. …”
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  15. 5735

    UAV Hyperspectral Remote Sensing Image Classification: A Systematic Review by Zhen Zhang, Lehao Huang, Qingwang Wang, Linhuan Jiang, Yemao Qi, Shunyuan Wang, Tao Shen, Bo-Hui Tang, Yanfeng Gu

    Published 2025-01-01
    “…Furthermore, this article delves into cutting-edge research trends, such as lightweight model development, hyperspectral large models, multisource data fusion, and model interpretability, while also highlighting future trends for UAV hyperspectral remote sensing classification technology, particularly in real-time monitoring and intelligent applications.…”
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  16. 5736

    Exploring how attachment insecurities mediate the link between sexual and partnership satisfaction in adolescents and young adults with cancer by Svenja Heyne, Hannah Brock, Diana Richter, Annekathrin Sender, Jenny Rosendahl, Michael Friedrich, Kristina Geue, Anja Mehnert-Theuerkauf

    Published 2025-01-01
    “…Sexual satisfaction partially predicted partnership satisfaction of AYA cancer survivors through attachment-related anxiety and attachment-related avoidance while the mediating effect accounted for 75% of the total effect. Interpretation: The associations between sexual satisfaction, partnership satisfaction, and attachment highlight the need to address emotional and relational aspects in supportive care for AYA cancer survivors. …”
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  17. 5737

    Physiological and behavioural resistance of malaria vectors in rural West-Africa: a data mining study to address their fine-scale spatiotemporal heterogeneity, drivers, and predict... by Taconet, Paul, Soma, Dieudonné Diloma, Zogo, Barnabas, Mouline, Karine, Simard, Frédéric, Koffi, Alphonsine Amanan, Dabiré, Roch Kounbobr, Pennetier, Cédric, Moiroux, Nicolas

    Published 2024-01-01
    “…The resulting models revealed many statistically significant associations, although their predictive powers were overall weak. We interpreted and discussed these associations in light of several topics of interest, such as: respective contribution of public health and agriculture in the selection of physiological resistances, biological costs associated with physiological resistances, biological mechanisms underlying biting behaviour, and impact of micro-climatic conditions on the time or place of biting. …”
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  18. 5738

    Clinical utility of receptor status prediction in breast cancer and misdiagnosis identification using deep learning on hematoxylin and eosin-stained slides by Gil Shamai, Ran Schley, Alexandra Cretu, Tal Neoran, Edmond Sabo, Yoav Binenbaum, Shachar Cohen, Tal Goldman, António Polónia, Keren Drumea, Karin Stoliar, Ron Kimmel

    Published 2024-12-01
    “…Nevertheless, current methods rely on the qualitative interpretation of immunohistochemistry and fluorescence in situ hybridization (FISH), which can be costly, time-consuming, and inconsistent. …”
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  19. 5739

    Effect of phosphorus fractions on benthic chlorophyll-a: Insight from the machine learning models by Yuting Wang, Sangar Khan, Zongwei Lin, Xinxin Qi, Kamel M. Eltohamy, Collins Oduro, Chao Gao, Paul J. Milham, Naicheng Wu

    Published 2025-03-01
    “…The SHapley Additive exPlanations (SHAP) were used to interpret the RF model, revealing CP as the most influential predictor of benthic chl-a levels. …”
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  20. 5740

    Postmortem Analysis of Ethyl Alcohol Concentration in Blood, Urine, Muscle and Bile by Agnė Okulevičiūtė, Sigitas Chmieliauskas, Gabija Laubner-Sakalauskienė, Robertas Badaras, Sigitas Laima, Diana Vasiljevaitė, Jurgita Stasiūnienė

    Published 2024-12-01
    “…To avoid postmortem changes in blood alcohol concentration, the test substance must be transported in special media enriched with sodium fluoride or potassium oxalate. When interpreting changes in concentrations in the body, it is important to assess not only the blood but also other body fluids or tissues. …”
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