Search Results (10,800)

Congenital cataracts (CCs) are a leading cause of preventable childhood blindness, with genetic factors playing a crucial role in their etiology. Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder associated with CCs but is often underdiagnosed due to variable expressivity, particularly in female carriers. Objective: This study aimed to explore the genetic landscape of CCs in a Swiss cohort, focusing on two novel NHS and one novel GJA8 variants and their phenotypic presentation. Methods: Whole-exome sequencing (WES) was conducted on 20 unrelated Swiss families diagnosed with CCs. Variants were analyzed for pathogenicity using genetic databases, and segregation analysis was performed. Clinical data, including cataract phenotype and associated systemic anomalies, were assessed to establish genotype–phenotype correlations. Results: Potentially pathogenic DNA sequence variants were identified in 10 families, including three novel variants, one in GJA8 (c.584T>C) and two NHS variants (c.250_252insA and c.484del). Additional previously reported variants were detected in CRYBA1, CRYGC, CRYAA, MIP, EPHA2, and MAF, reflecting genetic heterogeneity in the cohort. Notably, NHS variants displayed significant phenotypic variability, suggesting dose-dependent effects and X-chromosome inactivation in female carriers. Conclusions: NHS remains underdiagnosed due to its variable expressivity and the late manifestation of systemic features, often leading to misclassification as isolated CC. This study highlights the importance of genetic testing in unexplained CC cases to improve early detection of syndromic forms. The identification of novel NHS and GJA8 variants provides new insights into the genetic complexity of CCs, emphasizing the need for further research on genotype–phenotype correlations. Full article

Continuous and accurate biomass measurement is a critical enabler for control, decision making, and optimization in modern plant production systems. It supports the development of plant growth models for advanced control strategies like model predictive control, and enables responsive, data-driven, and plant state-dependent cultivation. Traditional biomass measurement methods, such as destructive sampling, are time-consuming and unsuitable for high-frequency monitoring. In contrast, image-based estimation using computer vision and deep learning requires frequent retraining and is sensitive to changes in lighting or plant morphology. This work introduces a low-cost, load-cell-based biomass monitoring system tailored for vertical farming applications. The system operates at the level of individual growing trays, offering a valuable middle ground between impractical plant-level sensing and overly coarse rack-level measurements. Tray-level data allow localized control actions, such as adjusting light spectrum and intensity per tray, thereby enhancing the utility of controllable LED systems. This granularity supports layer-specific optimization and anomaly detection, which are not feasible with rack-level feedback. The biomass sensor is easily scalable and can be retrofitted, addressing common challenges such as mechanical noise and thermal drift. It offers a practical and robust solution for biomass monitoring in dynamic, growing environments, enabling finer control and smarter decision making in both commercial and research-oriented vertical farming systems. The developed sensor was tested and validated against manual harvest data, demonstrating high agreement with actual plant biomass and confirming its suitability for integration into vertical farming systems. Full article

Anomalous ionospheric disturbances have been observed as potential precursors to earthquakes. This study utilized data from the CSES satellite to investigate anomalies in the ULF band ionospheric electric field and electron density preceding earthquakes with magnitudes of Ms ≥ 6.0 in China and neighboring regions from 2019 to 2021. Comparative analysis with a randomly generated earthquake catalog indicated that these anomalies were spatially concentrated over the epicenter and temporally clustered on specific dates prior to the events. To assess the global relevance of these findings, the analysis was extended to earthquakes with Ms ≥ 7.0 worldwide during the same period, revealing consistent spatiotemporal patterns of ionospheric anomalies in both regional and global datasets. Furthermore, by combining the two earthquake catalogs and classifying events into oceanic and continental categories, additional statistical analyses were conducted to identify distinct ionospheric disturbance patterns associated with these different tectonic environments. These results provide a solid foundation for future research aimed at identifying and extracting ionospheric anomalies as potential pre-earthquake indicators. Full article

Background: A detailed understanding of cardiac anatomy and physiology is crucial in cardiovascular medicine. However, traditional learning methods often fall short in addressing this complexity. Augmented reality (AR) offers a promising tool to enhance comprehension. To assess its potential integration into the Heidelberger Curriculum Medicinale (HeiCuMed), we conducted a needs assessment among medical students and lecturers at Heidelberg University Medical School. Methods: Our survey aimed to evaluate the perceived benefits of AR-based learning compared to conventional methods and to gather expectations regarding an AR course in cardiovascular medicine. Using LimeSurvey, we developed a questionnaire to assess participants’ prior AR experience, preferred learning methods, and interest in a proposed AR-based, 2 × 90-min in-person course. Results: A total of 101 students and 27 lecturers participated. Support for AR in small-group teaching was strong: 96.3% of students and 90.9% of lecturers saw value in a dedicated AR course. Both groups favored its application in anatomy, cardiac surgery, and internal medicine. Students prioritized congenital heart defects, coronary anomalies, and arrhythmias, while lecturers also emphasized invasive valve interventions. Conclusions: There is significant interest in AR-based teaching in cardiovascular education, suggesting its potential to complement and improve traditional methods in medical curricula. Further studies are needed to assess the potential benefits regarding learning outcomes. Full article

The displacement of bridge towers is relatively large under strong wind action. Changes in tower displacement can reflect the usage status of the bridge towers. Therefore, it is necessary to conduct performance warning research on tower displacement under strong wind action. In this paper, the triple standard deviation method, multiple linear regression method, and interpolation method are used to preprocess monitoring data with skipped points and missing anomalies. An improved multi-rate data fusion method, validated using simulated datasets, was applied to correct monitoring data at bridge tower tops. The fused data were used to feed predictive models and generate structural performance alerts. Spectral analysis confirmed that the fused displacement measurements achieve high precision by effectively merging the low-frequency GPS signal with the high-frequency accelerometer signal. Structural integrity monitoring of wind-loaded bridge towers used modeling residuals as alert triggers. The efficacy of this proactive monitoring strategy has been quantitatively validated through statistical evaluation of alarm accuracy rates. Full article

Prognostic and Health Management (PHM) strategies are gaining increasingly more traction in almost every field of engineering, offering stakeholders advanced capabilities in system monitoring, anomaly detection, and predictive maintenance. Primary flight control actuators are safety-critical elements within aircraft flight control systems (FCSs), and currently, they are mainly based on Electro-Hydraulic Actuators (EHAs) or Electro-Hydrostatic Actuators (EHSAs). Despite the widespread diffusion of PHM methodologies, the application of these technologies for EHAs is still somewhat limited, and the available information is often restricted to the industrial sector. To fill this gap, this paper provides an in-depth analysis of state-of-the-art EHA PHM strategies for aerospace applications, as well as their limitations and further developments through a Systematic Literature Review (SLR). An objective and clear methodology, combined with the use of attractive and informative graphics, guides the reader towards a thorough investigation of the state of the art, as well as the challenges in the field that limit a wider implementation. It is deemed that the information presented in this review will be useful for new researchers and industry engineers as it provides indications for conducting research in this specific and still not very investigated sector. Full article

Objectives: This study investigates whether scan time in the high-resolution magnetic resonance imaging (MRI) of human embryos can be reduced without compromising spatial resolution by applying zero-shot self-supervised learning (ZS-SSL), a deep-learning-based reconstruction method. Methods: Simulations using a numerical phantom were conducted to evaluate spatial resolution across various acceleration factors (AF = 2, 4, 6, and 8) and signal-to-noise ratio (SNR) levels. Resolution was quantified using a blur-based estimation method based on the Sparrow criterion. ZS-SSL was compared to conventional compressed sensing (CS). Experimental imaging of a human embryo at Carnegie stage 21 was performed at a spatial resolution of (30 μm)³ using both retrospective and prospective undersampling at AF = 4 and 8. Results: ZS-SSL preserved spatial resolution more effectively than CS at low SNRs. At AF = 4, image quality was comparable to that of fully sampled data, while noticeable degradation occurred at AF = 8. Experimental validation confirmed these findings, with clear visualization of anatomical structures—such as the accessory nerve—at AF = 4; there was reduced structural clarity at AF = 8. Conclusions: ZS-SSL enables significant scan time reduction in high-resolution MRI of human embryos while maintaining spatial resolution at AF = 4, assuming an SNR above approximately 15. This trade-off between acceleration and image quality is particularly beneficial in studies with limited imaging time or specimen availability. The method facilitates the efficient acquisition of ultra-high-resolution data and supports future efforts to construct detailed developmental atlases. Full article

Superior-type iron formations (IFs) represent a globally significant source of iron ore; yet, their origin remains a subject of ongoing debate. Early models proposed a continental weathering source for the iron, whereas later interpretations—mainly supported by positive europium (Eu) anomalies—favored a hydrothermal source. However, the hydrothermal model largely relies on REE systematics, and whether iron and REEs in Superior-type IFs share the same source remains uncertain. As iron isotopes directly trace the sources and fractionation history of iron, a spatial co-variation between Fe isotopes and Eu anomalies would shed new light on the iron source issue of IFs. In this study, we present new Fe isotope and REE data from the drill core WILDD004 at Wilgena Hill and integrate them with reported data for two additional drill cores: HKDD4 (Hawks Nest) and GWDD1 (Giffen Well). All three cores are stratigraphically equivalent to the Wilgena Hill Jaspilite Formation but span a lateral distance of ~100 km across the Gawler Craton, South Australia. While the Hawks Nest and Giffen Well samples exhibit both positive Eu anomalies and elevated δ⁵⁶Fe values, the Wilgena Hill samples show positive yet smaller Eu/Eu* (1.17–2.41) and negative δ⁵⁶Fe values (−0.60‰ to −1.63‰). The consistent presence of Eu anomalies and the systematic spatial correlation between δ⁵⁶Fe and Eu/Eu* across all three locations provide direct, Fe-based geochemical evidence for a hydrothermal source of iron in this Superior-type IF. Full article

In early May 2025, extreme wildfires swept across Manitoba, Canada, fueled by unseasonably warm temperatures, prolonged drought, and stressed vegetation. We explore how multi-source satellite indicators—such as anomalies in snow cover, precipitation, temperature, vegetation indices, and soil moisture in April–May—jointly signal landscape preconditioning for fire, highlighting the potential of these compound anomalies to inform fire risk awareness in boreal regions. Results indicate that rainfall deficits and diminished snowpack significantly reduced soil moisture, which subsequently decreased vegetative greenness and created a flammable environment prior to ignition. This concept captures how multiple moderate anomalies, when occurring simultaneously, can converge to create high-impact fire conditions that would not be flagged by individual thresholds alone. These findings underscore the importance of integrating climate and biosphere anomalies into wildfire risk monitoring to enhance preparedness in boreal regions under accelerating climate change. Full article

Detecting previously unseen anomalies in sensor data is a challenging problem for artificial intelligence when sensor-specific and deployment-specific characteristics of the time series need to be learned from a short calibration period. From the application point of view, this challenge becomes increasingly important because many applications are gravitating towards utilising low-cost sensors for Internet of Things deployments. While these sensors offer cost-effectiveness and customisation, their data quality does not match that of their high-end counterparts. To improve sensor data quality while addressing the challenges of anomaly detection in Internet of Things applications, we present an anomaly detection framework that learns a normality model of sensor data. The framework models the typical behaviour of individual sensors, which is crucial for the reliable detection of sensor data anomalies, especially when dealing with sensors observing significantly different signal characteristics. Our framework learns sensor-specific normality models from a small set of anomaly-free training data while employing an unsupervised feature engineering approach to select statistically significant features. The selected features are subsequently used to train a Local Outlier Factor anomaly detection model, which adaptively determines the boundary separating normal data from anomalies. The proposed anomaly detection framework is evaluated on three real-world public environmental monitoring datasets with heterogeneous sensor readings. The sensor-specific normality models are learned from extremely short calibration periods (as short as the first 3 days or 10% of the total recorded data) and outperform four other state-of-the-art anomaly detection approaches with respect to F1-score (between 5.4% and 9.3% better) and Matthews correlation coefficient (between 4.0% and 7.6% better). Full article

This study proposes an intelligent patrol planning framework that leverages reinforcement learning, spatiotemporal crime forecasting, and simulated sensor telemetry to optimize autonomous vehicle (AV) navigation in urban environments. Crime incidents from Washington DC (2024–2025) and Seattle (2008–2024) are modeled as a dynamic spatiotemporal graph, capturing the evolving intensity and distribution of criminal activity across neighborhoods and time windows. The agent’s state space incorporates synthetic AV sensor inputs—including fuel level, visual anomaly detection, and threat signals—to reflect real-world operational constraints. We evaluate and compare three learning strategies: Deep Q-Network (DQN), Double Deep Q-Network (DDQN), and Proximal Policy Optimization (PPO). Experimental results show that DDQN outperforms DQN in convergence speed and reward accumulation, while PPO demonstrates greater adaptability in sensor-rich, high-noise conditions. Real-map simulations and hourly risk heatmaps validate the effectiveness of our approach, highlighting its potential to inform scalable, data-driven patrol strategies in next-generation smart cities. Full article

Background/Objectives: Urban green space has been increasingly recognized as a determinant of maternal and child health. This study investigated the association between prenatal exposure to different types of green space and the risk of congenital anomalies in South Korea. Methods: We analyzed data from the National Health Insurance Service (N = 142,422). Green space exposure was measured at the area level and categorized into grassland and forest; statistical analysis was performed using generalized estimating equations and generalized additive models to analyze the associations. Additionally, subgroup and sensitivity analyses were performed. Results: GEE analysis showed that a 10% increase in the proportion of grassland in a residential district was associated with a reduced risk of nervous system (adjusted odds ratio [aOR]: 0.77, 95% confidence interval [CI]: 0.63–0.94) and genitourinary system anomalies (aOR: 0.83, 95% CI: 0.71–0.97). The subgroup analysis results showed significance only for male infants, but the difference between the sexes was not significant. In the quartile-based analysis, we found a slightly significant p-value for trend for the effect of forests on digestive system anomalies, but the trend was toward increasing risk. In a sensitivity analysis with different exposure classifications, the overall and nervous system anomalies in built green space showed that the risk decreased as green space increased compared to that in the lowest quartile. Conclusions: Our results highlight the importance of spatial environmental factors during pregnancy and suggest that different types of green spaces differentially impact the offspring’s early health outcomes. This study suggests the need for built environment planning as part of preventive maternal and child health strategies. Full article

The geographical response of western North Pacific subtropical high (SH) to environmental conditions such as the El Niño-Southern Oscillation (ENSO) and global warming has been one of the main concerns with respect to extreme events induced by tropical convections. By considering observed outgoing longwave radiation (OLR) as the strength of subtropical high, this study attempts to further understand the geographical response of SH strength to ENSO and global warming. Here, “SH strength” is defined as the inhibition of regional convections under SH environment. A meridional seesaw pattern among SH strength anomalies is found at 130°–175° E. In addition, the La Niña environment with weaker convections at lower latitudes is characterized by farther westward expansion of SH but with a weaker strength. Conversely, the El Niño environment with stronger convections at lower latitudes leads to shrunken SH but with a greater strength. The influence of the seesaw mechanism appears to be modulated by global warming. The western North Pacific subtropical high strengthens overall under warming in both the La Niña and El Niño environments. This suggests that the weakening effect by drier tropics is largely offset by anomalous highs induced by a warming atmosphere. It is most remarkable that the highest SH strengths appear in a warmer El Niño environment. The finding implies that every new El Niño environment may experience the driest atmosphere ever in the subtropics under global warming. The value of this study lies in the fact that OLR effectively illustrates how the ENSO variation and global warming bring the zonally undulating strength of boreal-summer SH. Full article

We introduce I-fp convergence (ideal convergence in fuzzy paranormed spaces) and develop its core theory, including stability results and an equivalence to $I^{*}$-fp convergence under the AP Property. Building on this foundation, we design an adaptive base-stock policy for a single-echelon inventory system in which weekly demand is expressed as triangular fuzzy numbers while holiday or promotion weeks are treated as ideal-small anomalies. The policy is updated by a simple learning rule that can be implemented in any spreadsheet, requires no optimisation software, and remains insensitive to tuning choices. Extensive simulation confirms that the method simultaneously lowers cost, reduces average inventory and raises service level relative to a crisp benchmark, all while filtering sparse demand spikes in a principled way. These findings position I-fp convergence as a lightweight yet rigorous tool for blending linguistic uncertainty with anomaly-aware decision making in supply-chain analytics. Full article

This study comprehensively compares the performance of two non-destructive testing (NDT) techniques—active thermography (AT) and digital shearography (DS)—for identifying various damage types in composite structures. Three distinct composite specimens were inspected: a carbon-fiber-reinforced polymer (CFRP) plate with flat-bottom holes, an aluminum honeycomb core sandwich plate with a circular skin-core disbond, and a CFRP plate with two low-energy impacts damage. The research highlights the significant role of post-processing methods in enhancing damage detectability. For AT, algorithms such as fast Fourier transform (FFT) for temperature phase extraction and principal component thermography (PCT) for identifying significant temperature components were employed, generally making anomalies brighter and easier to locate and size. For DS, a novel band-pass filtering approach applied to phase maps, followed by summing the filtered maps, remarkably improved the visualization and precision of damage-induced anomalies by suppressing background noise. Qualitative image-based comparisons revealed that DS consistently demonstrated superior performance. The sum of DS filtered phase maps provided more detailed and precise information regarding damage location and size compared to both pulsed thermography (PT) and lock-in thermography (LT) temperature phase and amplitude. Notably, DS effectively identified shallow flat-bottom holes and subtle imperfections that AT struggled to clearly resolve, and it provided a more comprehensive representation of the impacts damage location and extent. This enhanced capability of DS is attributed to the novel phase map filtering approach, which significantly improves damage identification compared to the thermogram post-processing methods used for AT. Full article