Search Results (19,751)

Background/Aims: While pathogenic germline variants play a critical role in pediatric cancer susceptibility, traditional clinical genetics primarily focuses on single-gene interpretations. Transitioning to a systems-level analysis of inherited variation can uncover shared biological vulnerabilities, informing genetic counseling, surveillance, and targeted therapeutics. This study aims to implement an unsupervised machine learning framework to identify and characterize Germline Mutation Signatures (GMS) across diverse pediatric malignancies, elucidating latent genomic patterns that reveal shared oncogenic mechanisms. Methods: We analyzed germline whole-exome and whole-genome sequencing (WES/WGS) data from a retrospective cohort of 420 pediatric cancer patients and matched non-cancer controls. Variants were deeply annotated to capture multi-dimensional features, including predicted pathogenicity, splice-site disruption, regulatory impact, population frequency, and sequence context. To enable robust modeling, we integrated an augmented feature set encompassing evolutionary constraint, loss-of-function intolerance, and compositionally normalized substitution spectra. These high-dimensional annotations were processed using a deep autoencoder for non-linear representation learning, followed by Gaussian Mixture Modeling (GMM) of the latent space. Results: The framework delineated 13 signatures (GMS1–GMS13), yielding an optimal Davies–Bouldin index of 1.051. These signatures map to fundamental biological processes, including DNA repair deficiencies, transcription-coupled damage, replication stress, and aberrant RNA regulation. Crucially, these GMSs transcend traditional tissue-of-origin classifications, manifesting across multiple distinct cancer types. This observation indicates convergent germline etiologies and suggests potential shared susceptibilities to pathway-directed therapies. Conclusions: The discovery of these cross-cancer signatures provides a scalable, biologically interpretable framework for decoding inherited pediatric cancer risk. While the therapeutic mapping networks identified are currently exploratory and serve as a hypothesis-generating foundation, this deep learning-driven paradigm establishes a robust basis for stratified precision medicine. Pending prospective clinical validation, this approach holds significant translational potential to move beyond single-gene paradigms toward unified, systems-level precision oncology strategies. Full article

Low-field benchtop nuclear magnetic resonance (NMR) spectroscopy has emerged as an accessible analytical platform for rapid, routine, and application-oriented analysis. However, its broader analytical adoption remains constrained by intrinsic limitations, including reduced spectral resolution, severe signal overlap, and lower sensitivity compared with conventional high-field instruments. To address these limitations, artificial intelligence (AI), including machine learning and deep learning approaches, has increasingly been explored alongside conventional chemometric strategies to enhance information extraction from low-field spectral data. This review examines recent developments in AI-assisted benchtop NMR across three major application domains: classification and authentication, quantitative analysis, and spectral processing or automated interpretation. Current evidence suggests that classification and authentication currently represent the most mature application area, whereas quantitative analysis shows promising but often condition-dependent performance. In contrast, spectral reconstruction and automated interpretation remain comparatively early-stage and exploratory, despite their potential long-term relevance for addressing intrinsic information limitations. Key challenges, including limited dataset diversity, poor model transferability, validation pitfalls, limited interpretability, and the lack of benchmarking and standardized workflows, are critically discussed. Future progress will likely depend not only on advances in AI algorithms, but also on the development of robust, reproducible, and analytically meaningful workflows. Overall, AI-assisted benchtop NMR is evolving from proof-of-concept applications toward a more structured analytical framework for extracting chemically meaningful information from spectrally constrained low-field data. Full article

Microplastics (MPs) are widely recognized as emerging contaminants in freshwater environments. Their identification often relies on extensive sample preparation and chemical treatments, which increase analysis time, reagent use, and overall resource consumption. Consequently, there is a growing need for sustainable analytical approaches enabling reliable MP detection while minimizing sample handling. This study proposes an analytical workflow based on hyperspectral imaging (HSI) as a proof-of-concept approach for direct identification of MPs in freshwater samples. Water samples collected from three different rivers, containing heterogeneous natural materials, were spiked with MPs (250–1000 μm) of three common polymers, namely high-density polyethylene (HDPE), polystyrene (PS), and polypropylene (PP), to simulate realistic contamination scenarios. HSI acquisitions were performed in the short-wave infrared range (SWIR: 1000–2500 nm). Spectral preprocessing and principal component analysis (PCA) were applied for data exploration, while a hierarchical partial least squares-discriminant analysis (Hi-PLS-DA) model was developed to classify five target classes: natural materials, water, HDPE, PS, and PP. Despite sample complexity, the proposed workflow achieved satisfactory classification results, as demonstrated by the predicted class map and the corresponding statistical metrics (sensitivity, specificity, precision, and F1-score: 0.900–0.999). These results highlight the potential of the SWIR-HSI-based approach as a rapid and sustainable method for direct MP identification in freshwater samples and provide methodological insights for rapid MP screening strategies requiring minimal sample preparation. Full article

The Amazon Basin and its rivers play a vital role in regional biodiversity, the carbon cycle, and socio-economic security. Through erosion and deposition, river planforms change over time, affecting local infrastructure, food security, and changes to ecosystems. Long-term monitoring is essential for observing these dynamics. Synthetic Aperture Radar (SAR) provides a method to consistently map river planform dynamics across large areas because it is largely independent of atmospheric conditions. This study presents an approach for deriving river planform metrics across the entire Amazon Basin using Sentinel-1 C-band SAR data. This approach followed three main steps: water mask generation, validation of the data and river metrics extraction. Sentinel-1 imagery from 2017 to 2025 was composited into quarterly mean images, after which Otsu thresholding was applied to derive water classifications. Additional post-processing steps were applied to reduce terrain- and seasonal effects. The final water masks were divided into water-change classes, validated using stratified sampling and achieved an overall accuracy of 98.5%. Quarterly river planform metrics, including sinuosity, mean channel width and migration rate, were derived using channel centerline extraction, but due to a lack of in situ validation data the river metric values have not been validated. The resulting time series provide insights into how river planform changes across all Amazon sub-basins from 2017 to 2025 can be monitored using SAR-based methods. The results reveal spatial differences in river dynamics between tributaries, mostly depending on flow pattern, up- or downstream path and location in the upper, middle or lower Amazon Basin. These findings demonstrate the potential of SAR time series for monitoring large-scale river planform dynamics. Full article

Background/Objectives: Oral cancer is one of the most common types of cancer, with high mortality rates if not detected early. Traditional diagnostic methods based on clinical examination rely on experience, leading to delays in early and reliable diagnosis. In recent years, medical imaging and AI-based computer-aided diagnostic systems have shown promising results in the automated identification of oral cancer. In particular, the efficient management of high-dimensional feature spaces in machine learning and deep learning approaches directly impacts classification performance. In this context, metaheuristic-based feature selection technics is a critical component because of eliminating redundant and irrelevant features. To address these challenges, this study proposes a metaheuristic-based feature selection method to reduce feature dimensionality and enhance the classification performance of oral cancer detection. Methods: This study proposes an improved Honey Badger Algorithm-based feature selection approach for the automated detection of oral cancer. In the proposed method, the distance vector used in the HBA method has been redefined to improve the balance between exploration and exploitation. Additionally, a new Cauchy mutation-based migration strategy was integrated into the proposed method to increase diversity in the search space and avoid getting stuck in local minima. The continuous-valued iHBA method was discretized with a modified sin–cos transfer function for feature selection. Oral cancer images were filtered using the CLAHE method, and after extracting deep features with the ResNet50 architecture, the proposed metaheuristic-based method was used to select discriminative features. Results: The proposed method was first tested for reliability and limitations through repeated runs on problems with different characteristics, such as unimodal and multimodal classical test functions. Then, the method was applied to extract significant features for oral cancer detection using a Histopathological Imaging Database containing 1224 histopathological oral tissue images at 100× and 400× magnification levels from 230 patients. The proposed approach was assessed in terms of accuracy, precision, recall, F1-score, and convergence curves in comparison with various classical feature selection techniques, such as wrapper-based, filter-based, and embedded-based methods, as well as other metaheuristic-based methods. The experimental results demonstrated that the suggested strategy outperformed both traditional feature selection techniques and alternative metaheuristic approaches. Conclusions: The effectiveness of the proposed method in improving diagnostic accuracy was evaluated through comprehensive experimental analyses. The obtained findings show that the proposed iHBA-based feature selection approach can reduce feature dimensionality, eliminate redundant and irrelevant features, and improve the classification performance of oral cancer detection. Therefore, the proposed method provides an effective and competitive computer-aided diagnostic framework for the automated classification of histopathological oral cancer images. Full article

Perovskite manganites (AMnO₃) and perovskite-like manganites (A’_1−xA_xMnO₃) are complex oxide materials that have attracted significant attention from the scientific community in recent years due to their structural flexibility, mixed-valence state, tunable electronic configuration, and multifunctional properties. This review systematically analyzes the synthesis methods, structural classification, and physicochemical characterization of perovskite manganites, as well as their magnetic, optical, electrical, dielectric, and catalytic properties. The influence of solid-state reactions, sol–gel, Pechini, hydrothermal, co-precipitation, microwave, and other mild chemical approaches on phase purity, morphology, particle size, and oxygen stoichiometry was examined. The structural diversity of perovskite and perovskite-like manganites, including simple ABO₃, double perovskites, multilayer, and low-dimensional systems, was characterized in relation to their functional properties. The review discussed the capabilities of methods for synthesizing and analyzing morphological properties, demonstrating the role of doping, cation substitution, oxygen vacancies, and Jahn–Teller distortions in controlling material properties. Prospects for the application of perovskite manganites in spintronics, magnetocaloric cooling, photocatalysis, gas-sensing devices, and energy conversion and storage systems were analyzed. This review highlights the structure–property–application relationship in perovskite manganites. Full article

Dermatophytosis remains one of the most prevalent superficial fungal infections worldwide and is increasingly encountered as a persistent or difficult-to-treat syndrome. A major clinical problem is that apparent treatment failure is often attributed to antifungal resistance, although many cases are instead driven by diagnostic uncertainty, corticosteroid-modified disease, reinfection, inadequate exposure, poor adherence, and limited drug delivery within keratinized tissues. This narrative review was developed to clarify the distinction between true antifungal resistance and clinical recalcitrance, with particular attention to terbinafine-resistant Trichophyton species, Trichophyton indotineae, tinea incognito, onychomycosis, dermatophytoma, and high-barrier skin and nail infections. We synthesized peer-reviewed literature and guideline-level evidence addressing epidemiology, molecular mechanisms of resistance, clinical phenotypes of recalcitrance, diagnostic escalation, therapeutic decision-making, and antifungal delivery in keratinized tissues. The review contributes a dermatology-centered conceptual framework in which persistent dermatophytosis is interpreted through both microbiological resistance and modifiable recalcitrance drivers. This approach emphasizes confirmation of fungal disease when indicated, phenotypic and anatomic classification, avoidance of inappropriate corticosteroid combinations, optimization of dose, duration, vehicle, and adherence, measures to improve drug access and reduce protected fungal burden in high-barrier disease, and prevention of reinfection from reservoirs. The proposed framework may support more rational antifungal use and reduce unnecessary escalation; however, it is based on narrative synthesis rather than a systematic review or prospective validation. Additional studies are needed to determine how such structured clinical approaches affect clinical outcomes, relapse rates, antifungal exposure, and resistance emergence in real-world dermatology practice. Full article

Industrial systems increasingly rely on MQTT-based message streaming to enable automated, data-driven production processes at the network edge. While semantic models such as the SSN/SOSA ontology enable machine-interpretable descriptions of observations and actuations, an explicit model of message transport is rarely considered. Consequently, MQTT-based communication remains opaque, particularly regarding information processing, hindering the semantic analysis of application-specific topic structures and the behavior of transport protocols. To close this gap, this work introduces the revised MQTT4SSN ontology as a key contribution, extending existing semantic models with protocol-aware representations of MQTT entities, control packets, and transport-level interactions. MQTT4SSN enables end-to-end semantic traceability, from sensor observations and actuator controls to the underlying message transmission within distributed systems. Building on this contribution, the MQTT2RDF integration framework incorporates MQTT4SSN as its core to capture live MQTT traffic and represent both payload meaning and transport-level provenance within an RDF knowledge graph. This work presents a novel approach for representing edge computing and information processing over MQTT, addressing two key challenges. First, the framework supports semantic interpretation of topic hierarchies and provides configurable mappings between MQTT topics, payload structures, and observation or actuation semantics. This approach facilitates the setup of edge computing systems and enables context-aware subscription management and structured data formatting, thereby improving interoperability between heterogeneous deployments. Second, transport-level provenance analytics provide a semantic basis for query-based detection, classification support, and diagnostic analysis of malformed or incomplete MQTT communication. The approach provides explainable, traceable information processing through transport provenance, which is essential for safety-critical industrial environments. The contributions are validated through an industrial use case from a production environment, demonstrating its applicability for system monitoring, troubleshooting, and semantic analytics of MQTT-based infrastructures. Full article

Indian metropolitan cities such as Mumbai grapple with rapid urbanisation, extreme urban density, high built-up areas, loss of green cover, and shrinking open spaces, resulting in increased impermeable surfaces, urban heat island effects, and frequent flooding occurrences. Modern stormwater management has increasingly been characterised by integrated grey-green approaches; however, cities in the Global North benefit from established policies, technical expertise, and financial resources that enable the systematic and large-scale integration of Blue-Green Infrastructure (BGI) through district-wide geospatial assessment frameworks, unlike many cities in the Global South. Despite growing interest in nature-based stormwater solutions, there remains a dearth of geospatial empirical research from India examining the placement, distribution, performance, and functionality of BGI integrated with existing stormwater management systems in cities such as Mumbai. Furthermore, hydrological modelling using tools such as the Storm Water Management Model (SWMM) for the design, planning, and implementation of BGI in Indian cities remains largely unexplored. This study explores the role of BGI strategies in improving urban stormwater management within high-density Indian cities under a 25-year return period extreme rainfall scenario. Using an integrated approach that combines QGIS-based spatial analysis with EPA-SWMM hydrologic-hydraulic modelling, the research examines runoff behaviour, identifies flooding hotspots, and evaluates the effectiveness of Low Impact Development (LID)-based BGI measures such as permeable pavements, infiltration trenches, and green roofs applied at the ward level in Mumbai’s F/North and G/North Wards. Detailed land use classification, spatial mapping, and rainfall simulation corresponding specifically to a 25-year return period rainfall event was used to assess pre- and post-intervention conditions. The findings indicate that the applied BGI measures led to a 12.6% reduction in peak runoff (137.6 m³/s to 120.2 m³/s) and a 5.5% decrease in total runoff volume (783,510 m³ to 740,410 m³). More importantly, the peak flooding flow rate decreased by 45% (94.1 m³/s to 51.7 m³/s), demonstrating that BGI measures can efficiently reduce peak flooding flows by extending runoff hydrographs during extreme rainfall events. These findings are specifically applicable to the simulated 25-year return period extreme rainfall scenario and may vary under different rainfall intensities or return periods. Less extreme events could potentially experience even greater relative reductions or prevent flooding altogether, while also easing downstream hydraulic loads. Overall, strategically placed BGI interventions can significantly reduce surface runoff and peak flow, thereby enhancing stormwater resilience within spatially constrained urban environments. This study provides a replicable, data-driven framework for catchment-scale stormwater planning in dense Indian cities under extreme rainfall conditions, offering practical insights into methods, local contextual considerations, and spatial planning strategies for policymakers and urban planners seeking to retrofit and adapt existing infrastructure under increasing hydrologic stress and climate variability. Full article

Background: Spinocerebellar ataxia type 2 (SCA2) is an inherited neurodegenerative disorder characterized by progressive cerebellar degeneration. One difficulty in treating this disease lies in identifying preclinical carriers: individuals who carry the pathogenic ATXN2 mutation but remain asymptomatic with respect to motor manifestations. Though magnetic resonance imaging (MRI) has proven valuable in supporting the diagnosis of ataxia, traditional univariate approaches using linear measurements have shown limited ability to capture the complex anatomical changes that occur across the disease spectrum, particularly during the preclinical phase. Methods: This study employed a comprehensive multivariate approach to improve the classification of individuals across the SCA2 spectrum. We developed a multinomial logistic regression model incorporating multiple linear measurements derived from magnetic resonance imaging to discriminate between healthy controls (n = 72), preclinical carriers (n = 17), and patients with manifest SCA2 (n = 61). To mitigate inherent class imbalance, particularly in the smaller preclinical subgroup, we implemented the Synthetic Minority Over-sampling Technique (SMOTE), generating a balanced dataset that enhances the model’s ability to discern the distinctive anatomical features. This was compared to the model applied to the unbalanced data. An improvement was observed when applying SMOTE. Results: The multivariate model demonstrated discriminatory performance, achieving an overall accuracy of 80.7%. The ability to identify healthy controls (AUC: 0.96), preclinical individuals (AUC: 0.75), and clinical individuals (AUC: 95%). This represents an advance over previous univariate approaches, which have had difficulty capturing the neurodegenerative changes characteristic of the preclinical stage. Conclusions: By integrating multiple neuroimaging biomarkers into a multivariable model, this study provides a tool for early identification of preclinical SCA2 carriers. The ability to accurately classify these individuals opens an opportunity for early therapeutic intervention before irreversible neurological deterioration occurs. This approach shows promise for optimizing clinical trial design and personalized care in SCA2. Full article

Pancreatic ductal adenocarcinoma (PDAC) is increasingly recognized as a systemic malignancy, characterized by profound alterations in tumor–host interactions. Small extracellular vesicles (sEVs) in peripheral blood may reflect these alterations and represent a promising minimally invasive source of biomarker information. In this proof-of-principle study, plasma-derived sEVs from patients with PDAC, healthy controls, and a comparative cohort with neuroendocrine lung cancer (NLC) were isolated by differential ultracentrifugation and characterized by western blotting and nanoparticle tracking analysis. Surface marker profiling was performed using the MACSPlex EV Kit IO, followed by univariate, multivariate, and machine-learning-based analyses. PDAC samples exhibited a distinct sEV immunophenotype with coordinated enrichment of angiogenesis-related markers (including CD105 and CD146), immune-regulatory markers (including CD25 and CD40), the coagulation-related marker CD142 and the invasion-associated marker MCSP. Principal component analysis, hierarchical clustering, and Random Forest classification showed exploratory separation of PDAC patients from healthy controls and NLC, supporting the presence of disease-specific vesicle surface marker patterns. In a very small subset of paired samples, descriptive longitudinal analyses illustrated measurable intra-individual changes during chemotherapy. Plasma sEV immunophenotyping is a technically feasible approach for capturing systemic disease-associated alterations in PDAC and provides a foundation for future biomarker-oriented validation studies. Full article

Recently, numerous studies have exploited satellite Aerosol Optical Depth (AOD) to estimate near-surface particulate matter (PM) concentrations, with the aim of overcoming the limited spatial and temporal coverage of ground-based air quality monitoring networks. Despite significant progress, the relationship between AOD and PM remains highly uncertain, mainly due to the inadequate representation of local aerosol microphysical properties and of hygroscopic growth effects. In particular, satellite AOD is retrieved at ambient relative humidity, whereas standard PM measurements are performed under dry conditions. This study proposes a physics-informed, semi-empirical approach that overcomes these limitations by directly relating satellite AOD to PM measured at ambient humidity. Co-located measurements, from a Light Optical Aerosol Counter (LOAC) in the urban area of Bologna (Po Valley, Italy) during 2023, are used. This study is designed as a pilot application to evaluate the physical consistency of the proposed framework under well-characterised observational conditions, including spatial co-location, temporal matching to satellite overpasses, and exclusion of precipitation and desert dust events. The LOAC provides particle number size distribution and particle-type classification, which are used to estimate key aerosol properties controlling the AOD–PM theoretical relationship, including the Effective Radius, Extinction Efficiency, and aerosol Mass Density. These quantities, together with Mixing Layer Height, are combined within a theoretical framework linking PM and AOD, allowing for the derivation of a physically based scaling coefficient without relying on empirical hygroscopic growth corrections. The results show that using ambient PM_2.5 alone already yields a moderate linear correlation with AOD normalized by Mixing Layer Height (Pearson’s R = 0.56) whereas no meaningful correlation is found when using standard dry PM_2.5. When aerosol microphysical properties derived from LOAC measurements are incorporated, the correlation substantially improves (R = 0.76), with regression slopes close to unity and reduced errors, independently of the season. These results demonstrate that explicitly accounting for aerosol size and optical properties enhances the physical consistency and robustness of satellite-based PM estimates. The proposed framework also provides a pathway to indirectly derive aerosol hygroscopic growth factors by coupling ambient PM estimates from satellite observations with conventional dry PM measurements. This opens new perspectives for characterizing aerosol–humidity interactions from space and for improving air quality monitoring in regions lacking of dense in situ networks. Full article

This study assessed community process and empowerment in a Primary Healthcare Island Unit in the Azores to support the implementation of Epidemiological Surveillance of Nursing Diagnoses (ESND), focusing on three priority areas: tobacco use, drug dependence, and adolescent decision-making related to sexuality and life planning. Strengthening the visibility of nursing-sensitive phenomena requires integrating nursing diagnoses into epidemiological surveillance systems. A multimethod descriptive study was conducted between September and November 2025, combining document analysis, a community empowerment assessment, and a structured questionnaire. The total population included 328 nurses, with 172 participants (response rate: 52.4%) using a non-probabilistic sampling approach. Data were analyzed using descriptive statistics (frequencies, percentages, means, and standard deviations). Priority nursing foci were identified according to the ICNP^® 2019 classification: tobacco use, drug dependence, and decision-making process related to sexuality and life planning. Results showed that all three dimensions of the MAIEC were weak: community leadership was limited, particularly in knowledge indicators; participation was constrained by unclear organizational structures and insufficient communication; and coping capacity was insufficient due to limited training and experience. Empowerment assessment confirmed structural weaknesses in leadership, organizational support, and resource mobilization. Overall, the community process and empowerment profile indicate that the conditions required to sustain ESND are not yet sufficiently developed. Strengthening leadership, improving communication, and expanding training in ESND and ICNP^® documentation are essential to support nurse-centered surveillance and enhance the visibility of nursing contributions to population health. Full article

Background: Accurate assessment of neonatal sleep is critical for monitoring brain development and identifying potential neurological disorders, yet manual scoring of multi-channel EEG recordings is labor-intensive and prone to variability. Methods: To address this, we propose a lightweight temporal–spatial feature fusion network for automatic neonatal sleep staging. The model employs a dual-branch architecture to separately capture temporal dependencies and spatial correlations in EEG signals, which are then integrated through feature concatenation and a compact classifier to obtain comprehensive feature representations while maintaining low computational complexity. Results: The framework was evaluated on a clinical neonatal dataset (CHFD) for tasks including sleep–wake classification, quiet sleep detection, and three-stage sleep staging, achieving superior performance compared with several state-of-the-art methods. Additional evaluation on the MASS-S3 adult dataset demonstrate that the model retains competitive accuracy and F1-score, indicating strong generalization across populations. Conclusions: These results suggest that jointly modeling temporal and spatial features enables robust and efficient automatic sleep staging. The proposed approach offers a practical solution for clinical applications and edge deployment, providing reliable, multi-dimensional assessment of neonatal brain activity and laying the groundwork for future studies integrating larger datasets or multimodal physiological signals. Full article

Accurate pig counting during herd transfers is fundamental to effective livestock management in large-scale swine production, yet existing methods struggle with bidirectional passages, boundary oscillations, and occlusion in real corridor environments. This study proposes an integrated system combining an improved YOLO-based detection model with a Hysteresis-based Multi-frame Temporal Confirmation Counting Strategy (HMTC). The YOLO11s baseline was enhanced using lightweight RepViT blocks, dynamic upsampling (DySample), and shape-aware bounding box regression (Shape-IoU). The resulting model achieves a mAP₅₀ of 0.982 with a compact architecture of 8.28M parameters, representing a 12.3% reduction relative to the baseline while improving detection accuracy. To address bidirectional counting challenges, the HMTC strategy utilizes hysteresis-based region classification, temporal confirmation, and trajectory verification to suppress boundary jitter and ensure directional correctness. Evaluated on nine videos from a single transfer corridor, the proposed system achieves an overall counting accuracy of 99.21% on this test set and runs in real time on an embedded edge device at over 30 FPS without loss of counting accuracy. Together, the improved detection model and HMTC counting strategy provide a cohesive approach to pig passage counting, validated here under a single transfer-corridor condition; these results offer a promising basis for automated animal inventory management, pending further validation across more diverse farm environments. Full article