Search Results (202)

Nudging remains a cost-effective data assimilation technique in coupled climate models, yet conventional schemes with fixed spatial strengths struggle to represent heterogeneous ocean processes. This study introduces an adaptive nudging framework in which a spatially varying gain matrix dynamically balances model and observational errors, providing a more physically consistent determination of nudging coefficients. Implemented in the SPEEDY-NEMO coupled model, the method is systematically evaluated against a traditional latitude-dependent scheme. Results show substantial improvements in subsurface temperature assimilation across key regions, including the Niño3.4, tropical Indian Ocean, North Pacific, North Atlantic, and northeastern Pacific. The most pronounced gains occur above and within the thermocline, where strong stratification renders fixed nudging strengths inadequate, yielding a 20–30% reduction in RMSE and a 30–50% increase in correlation. In mid- to high-latitude regions, improvements extend to greater depths, consistent with deeper thermocline structures. The adaptive framework corrects both systematic bias and variance, enhancing not only the mean state but also variability representation. Additional benefits are found in salinity, currents, and sea surface height, demonstrating that spatially adaptive nudging provides a more effective and practical alternative for improving ocean state estimation in coupled models. Full article

Accurate sky–obstacle segmentation in hemispherical fisheye imagery is essential for solar irradiance forecasting, photovoltaic system design, and environmental monitoring. However, existing methods often rely on expensive all-sky imagers and region-specific training data, produce coarse sky–obstacle boundaries, and ignore the optical properties of fisheye lenses. We propose a low-cost segmentation framework designed for fisheye imagery that combines synthetic data generation, lens-aware augmentation, and a hybrid deep-learning pipeline. Synthetic fisheye training images are created from publicly available street-view panoramas to cover diverse environments without dedicated hardware, and lens-aware augmentations model fisheye projection and photometric effects to improve robustness across devices. On this dataset, we train a convolutional neural network (CNN) and refine its output with gradient-boosted decision trees (GBDT) to sharpen sky–obstacle boundaries. The method is evaluated on real fisheye images captured with smartphones and low-cost clip-on lenses across multiple sites, achieving an Intersection over Union (IoU) of 96.63% and an F1 score of 98.29%, along with high boundary accuracy. An additional evaluation on an external panoramic baseline dataset confirms strong cross-dataset generalization. Together, these results show that the proposed framework enables accurate, low-cost, and widely deployable hemispherical sky segmentation for practical solar and environmental imaging applications. Full article

Inborn errors of immunity (IEIs), formerly referred to as primary immunodeficiencies (PID), represent a heterogeneous group of hereditary disorders that significantly increase patients’ susceptibility to severe and recurrent infections. Toll-like receptors (TLRs) play a pivotal role in host defense as fundamental components of innate immunity, while also linking it to adaptive immune responses. This review summarizes advances in understanding the involvement of TLRs in the pathogenesis of IEIs in children. It highlights genetic defects such as deficiencies in MyD88, IRAK-4, NEMO, and TLR3, which lead to distinct clinical phenotypes, for example, increased susceptibility to bacterial infections or herpes simplex virus type-1 (HSV-1) encephalitis. The review also examines more complex disorders, including chronic granulomatous disease (CGD), common variable immunodeficiency (CVID), and X-linked agammaglobulinemia (XLA), in which TLR signaling may be either impaired or dysregulated. This analysis demonstrates the growing importance of functional assays evaluating TLR activity as a diagnostic tool complementary to genetic testing, as well as their potential to precisely characterize immunological phenotypes. Furthermore, current therapeutic perspectives are discussed, including the use of TLR agonists, which have shown promising results in oncology, the role of gene therapy as a causal treatment option, and a proposed diagnostic algorithm incorporating TLR-based evaluation. Despite significant progress, substantial knowledge gaps remain, particularly regarding the full spectrum of TLR signaling abnormalities across IEI subtypes. The conclusions emphasize the need for large-scale, international studies to achieve a comprehensive understanding of pathogenic mechanisms and to develop more targeted and effective therapeutic interventions for children affected by these rare disorders. Full article

Background: Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease with variable clinical progression. While median survival is 2–4 years, 5–15% of individuals survive for longer. Methods: We conducted a retrospective, observational study using a population-based ALS register in Lombardy, Italy, to identify the clinical characteristics of long-term ALS survivors (≥10 years). Incident cases included in two periods (1998–2002 and 2008–2012) were considered. Results: A total of 828 ALS cases were included. Median survival for the entire cohort was 2.2 years (IQR 1.1–4.4). However, long-term survival was observed in 7% of individuals at 10 years, and 3% at 15 years. Long-survivors had a median survival of 13.4 years, significantly longer than the 1.9 years of non-long-survivors (IQR 1.0–3.6). Long-survivors were younger at disease onset and diagnosis, had longer diagnostic delay, and were more likely to have had a spinal onset. The cohort also showed a higher proportion of males among long-term survivors (75% vs. 59%). No significant difference in survival was observed between the two examined periods. Conclusions: Our findings suggest that long-term ALS survival is likely influenced by a complex interplay of clinical, genetic, and environmental factors, along with the intrinsic rate of motor neuron degeneration. Full article

Objectives: To guide language model (LM) selection by comparing finetuning vs. zero-shot use, generic pretraining vs. domain-adjacent vs. further domain-specific pretraining, and bidirectional language models (BiLMs) such as BERT vs. unidirectional LMs (LLMs) for clinical classification. Materials and Methods: We evaluated BiLMs (RoBERTa, PathologyBERT, Gatortron) and LLM (Mistral nemo instruct 12B) on three British Columbia Cancer Registry (BCCR) pathology classification tasks varying in difficulty/data size. We assessed zero-shot vs. finetuned BiLMs, zero-shot LLM, and further BCCR-specific pretraining using macro-average F1 scores. Results: Finetuned BiLMs outperformed zero-shot BiLMs and zero-shot LLM. The zero-shot LLM outperformed zero-shot BiLMs but was consistently outperformed by finetuned BiLMs. Domain-adjacent BiLMs generally outperformed generic BiLMs after finetuning. Further domain-specific pretraining boosted complex/low-data task performance, with otherwise modest gains. Conclusions: For specialized classification, finetuning BiLMs is crucial, often surpassing zero-shot LLMs. Domain-adjacent pretrained models are recommended. Further domain-specific pretraining provides significant performance boosts, especially for complex/low-data scenarios. BiLMs remain relevant, offering strong performance/resource balance for targeted clinical tasks. Full article

Collagen VI is an extracellular matrix component encoded by COL6A1, COL6A2 and COL6A3 genes. Causative variants in these genes are associated with the following collagen VI-related myopathies: severe Ullrich congenital muscular dystrophy (UCMD), milder Bethlem myopathy (BM) and intermediate phenotypes (INT). We report the mutation landscape of COL6A genes in 138 Italian patients affected with a collagen VI-related phenotype. The patient cohort included 44 (32%) UCMD, 9 (7%) INT, 61 (44%) BM and 21 (15%) INT/BM patients; 3 patients (2%) with a myosclerosis myopathy (MM) phenotype were also considered. We identified 104 different variants: 26 in COL6A1 (25%), 52 in COL6A2 (50%) and 26 in COL6A3 (25%). The variant spectrum includes missense, splicing, small indel, frameshifting and nonsense variants. Glycine substitutions in the triple helical domain of the collagen VI protein are the commonest variants and occur in all phenotypes. Our genetic profiling disclosed a unique mutation scenario and phenotypic association of the COL6A2 gene with respect to COL6A1 and COL6A3, which may be related to a different evolutive history. Landscape mutation analysis of variants occurring in ultrarare conditions, such as collagen VI-related myopathies, is crucial to better understand the variations’ profile and to gain insight into fundamental knowledge about gene structure and its evolutive origin. Full article

Background: Childhood obesity has reached epidemic levels in developed countries and is an emerging concern in developing regions. Children with excess weight are more likely to maintain this condition over time into adulthood and face a higher risk of developing metabolic disorders such as type 2 diabetes, hypertension, metabolic dysfunction-associated liver disease, and dyslipidemia. Early identification of obesity risk is, therefore, a key public health challenge. Methods: This is an observational, prospective, single-center cohort pilot study in 66 mother–infant dyads recruited at the Gynecology and Obstetrics Service of the Virgen de la Arrixaca University Hospital (Murcia, Spain). The primary objective is to identify early-life, non-invasive biomarkers associated with increased adiposity by integrating multi-omics approaches and analyzing maternal–infant interactions. Pregnant women will be enrolled during the third trimester and will undergo a baseline visit at 38 weeks of gestation for clinical and anthropometric assessment. Buccal swabs and fecal samples will be collected at baseline and in the peripartum period for epigenetic (DNA methylation), metagenomic, and metabolomic analyses. Infants will be evaluated at birth and followed at 6 months, 1 year, 2 years, and 3 years. Each visit will include detailed anthropometric measurements, along with collection of buccal swabs and fecal samples for multi-omics profiling. Conclusions: This multidisciplinary study aims to assess how maternal factors influence infant epigenetic and microbial patterns, and their relation to adiposity development. Early identification of such biomarkers may guide personalized prevention strategies and reduce the long-term burden of obesity-related comorbidities. Full article

The current standard for sea ice engineering in the Bohai Sea implements a 1/4° grid method, which cannot satisfy the safety of oil and gas activities in the southern Bohai Sea, and therefore more detailed information on ice conditions and a more refined ice zone division are necessary. In the present study, up to 1/12° resolution sea ice characteristic data (period, thickness, concentration, and strength) were obtained based on the NEMO-LIM2 ice–ocean coupling model. On this basis, the design sea ice strength parameters were derived with different return periods from 1 to 100 years. Among the total of 53 grids, the mean ice periods in the southern Bohai Sea from 1951 to 2022 were 2–35 days, the mean ice concentration values were 8.3–64.6%, and the mean ice thicknesses were 2–15 cm. The design uniaxial compressive strengths and shear strengths at almost all grids exceeded 2.00 MPa and 1.00 MPa for return periods over 20 years, respectively. The design flexural strengths for the 100-year return period ranged from 463 to 594 kPa. For the 100-year return period scenario, all grids exhibited design tensile strengths exceeding 200 kPa. Across the southern Bohai Sea, the most severe ice conditions occur in nearshore zones, and the ice conditions display a distinct spatial gradient with Bohai Bay > offshore deep-water areas > Laizhou Bay. The mean ice thickness, concentration, design flexural and tensile strengths derived in this study were lower compared to the ice parameters suggested in the current standard, and design uniaxial compressive and shear strengths derived here were comparable to those suggested in the current standard. The refined grid used here captures more detailed spatial variations in the design strength values of sea ice engineering parameters in the southern Bohai Sea, providing more accurate data support for the anti-ice design of marine structures. Full article

Diffusiophoresis of a liquid metal droplet (LMD) in a cylindrical pore is investigated theoretically in this study. A patched pseudo-spectral method based on Chebyshev polynomials combined with a geometric mapping technique is adopted to solve the resulting governing electrokinetic equations in irregular geometries. Several interesting phenomena are found which provide useful guidelines in practical applications involving liquid metal droplets (LMDs) such as drug delivery. In particular, the severe boundary confinement effect brings about unique features of droplet motion, leading to mobility reversal and a “stagnation phenomenon” where droplets cease to move regardless of their surface charge densities in a narrow cylindrical pore. An overwhelming exterior vortex flow nearly enclosing the entire droplet is found to be responsible for this. This finds various practical applications in droplet microfluidics and drug delivery. For instance, a cylindrical pore or blood vessel may be clogged by a droplet much smaller than its radius. In addition, the “solidification phenomenon”, where all droplets move with identical speed regardless of their viscosities like rigid particles with no interior recirculating vortex flows, is also discovered. The electrokinetic mechanism behind it and its potential applications are discussed. Overall, the geometric configuration considered here is a classic one, with many other possible applications yet to be found by experimental researchers and engineers in the field of colloid industry and operations. Full article

Background: Perceptual analysis has highlighted that the voice characteristics of patients with rare congenital genetic syndromes differ from those of normophonic subjects. In this paper, we describe the voice phenotype, also called the phonotype, of patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1). Methods: We conducted an observational study at the Department of Life Sciences and Public Health, Rome. Thirteen patients were included in this study (five males; mean age: 16 years; SD: 10.63 years; median age: 12 years; age range: 6–44 years), and five were adults (38%). We prospectively recorded and analyzed acoustical features of three corner vowels [a], [i], and [u]. For perceptual analysis, the GIRBAS (grade, instability, roughness, breathiness, asthenia, and strain) scale was utilized. Acoustic analysis was performed through BioVoice software. Results: We found that CS/CISS1 patients share a common phonotype characterized by articulation disorders and hyper-rhinophonia. Conclusions: This study contributes to delineating the voice of CS/CISS1 syndrome. The phonotype can represent one of the earliest indicators for detecting rare congenital conditions, enabling specialists to reduce diagnosis time and better define a spectrum of rare and ultra-rare diseases. Full article

Diffusiophoresis of a weakly charged dielectric droplet in a cylindrical pore is investigated theoretically in this study. The governing fundamental electrokinetic equations are solved with a patched pseudo-spectral method based on Chebyshev polynomials, coupled with a geometric mapping scheme to take care of the irregular solution domain. The impact of the boundary confinement effect upon the droplet motion is explored in detail, which is most profound in narrow channels. We found, among other things, that the droplet moving direction may reverse with varying channel widths. Enhanced motion-inducing double-layer polarization due to the presence of a nearby channel wall is found to be responsible for it. In particular, an interesting and seemingly peculiar phenomenon referred to as the “solidification phenomenon” is observed here at some specific critical droplet sizes or electrolyte strengths in narrow channels, under which all the droplets move at identical speeds regardless of their viscosities. They move like a rigid particle without the surface spinning motions and the induced interior recirculating vortex flows. As the corresponding shear rate is zero at this point, the droplet is resilient to undesirable exterior shear stresses tending to damage the droplet in motion. This provides a helpful guideline in the fabrication of liposomes in drug delivery in terms of the optimal liposome size, as well as in the microfluidic and nanofluidic manipulations of cells, among other potential practical applications. The effects of other parameters of electrokinetic interest are also examined. Full article

Background: Obesity is a chronic and complex disease; by its nature, it represents an enormous challenge to be solved and managed. For that matter, several guidelines have been published, but there is still a long way to go until concrete scaled results can be presented. Adults with obesity, and especially severe obesity, need to have access to treatment programs, but they are not available for the vast majority of the population. Objective: The aim of this study is to evaluate the effectiveness of a multidisciplinary treatment program for obesity (MTPO) offered to adults (ages 18 to 50 years old) with a BMI over 30 kg/m². Methods: Participants were invited through media ads, resulting in 404 participants for the first phase of that study, from whom the risk profile was assessed. After that, 180 participants (82.8% with severe obesity) concluded the MTPO, which consisted of 48 sessions of exercises and the same number of professional orientations about a healthy lifestyle, including the importance of being physically active, how to improve their eating habits, and how to control their emotions. Results: For the analysis of results, participants were grouped according to their weight loss in terciles, with the first, tercile presenting an average weight loss of 7.6%, which is considered clinically significant. In the same way, the average percental variations were even higher in this group for body fat (12.7%) and the lean mass to fat mass ratio (LM/FM), which increased by 14.3%. The homeostatic model assessment for insulin resistance, HOMA-IR, was around 3 times the variation of body mass, whereas the triglycerides (TG) and the hemoglobin A1C (H1Ac) were around twice that rate. Conclusions: These results made clear the effectiveness of the MTPO, which needs to be tested in public health services. Full article

This paper investigates the influence of ventilation conditions, including oxidizer flow speed and oxygen concentration, on major species composition in favor of estimating a risk of flame acceleration at reduced gravity. A two-step chemical reaction for gas phase and a soot formation model based on laminar smoke point are used. To calculate thermal radiation from flame, a discrete-ordinates method is coupled with a non-grey model by taking into account the radiative properties of CO, CO₂, H₂O and soot. The predictions provide further insights into the intimate coupling of fuel types, such as heptane and dodecane, with burning rate, flame structure and toxic emissions as a consequence of changes in ventilation conditions such as oxidizer flow velocity and oxygen concentration. From a boundary-layer microgravity flame, the CO₂ to CO ratio is less than 3, and the unburnt hydrocarbons C_mH_n to CO ratio is less than 2, with a concentration of unburnt fuel that exceeds the Lower Flammability Limit. This finding on the production of unburnt species is contrasted to the case of a buoyancy-controlled flame at Earth gravity. Full article

This study presents a comprehensive evaluation of embedding techniques and large language models (LLMs) for Information Retrieval (IR) and question answering (QA) across languages, focusing on English and Italian. We address a significant research gap by providing empirical evidence of model performance across linguistic boundaries. We evaluate 12 embedding models on diverse IR datasets, including Italian SQuAD and DICE, English SciFact, ArguAna, and NFCorpus. We assess four LLMs (GPT4o, LLama-3.1 8B, Mistral-Nemo, and Gemma-2b) for QA tasks within a retrieval-augmented generation (RAG) pipeline. We evaluate them on SQuAD, CovidQA, and NarrativeQA datasets, including cross-lingual scenarios. The results show multilingual models perform more competitively than language-specific ones. The embed-multilingual-v3.0 model achieves top nDCG@10 scores of 0.90 for English and 0.86 for Italian. In QA evaluation, Mistral-Nemo demonstrates superior answer relevance (0.91–1.0) while maintaining strong groundedness (0.64–0.78). Our analysis reveals three key findings: (1) multilingual embedding models effectively bridge performance gaps between English and Italian, though performance consistency decreases in specialized domains, (2) model size does not consistently predict performance, and (3) all evaluated QA systems exhibit a critical trade-off between answer relevance and factual groundedness. Our evaluation framework combines traditional metrics with innovative LLM-based assessment techniques. It establishes new benchmarks for multilingual language technologies while providing actionable insights for real-world IR and QA system deployment. Full article

Passive acoustic monitoring plays a critical role in the study of marine species, particularly in understanding the behavior of deep-diving endangered species like the Mediterranean sperm whale (Physeter macrocephalus). This paper presents an effective method for tracking sperm whales using synchronized acoustic data from four hydrophones. The tracking method estimates the location of sperm whales by measuring the time difference of arrival of detected clicks. The direction of arrival of the clicks and their reflections on the surface are then reconstructed to determine the position of the whale. The method was used to perform the first acoustic tracking study of sperm whale dives recorded in the Central Mediterranean Sea by the NEMO-O$\nu$DE cabled observatory, deployed at a depth of 2100 m in the Gulf of Catania. The data analyzed in this study were collected in August and October 2005 and include 49 five-minute recordings with the presence of sperm whale clicks. A Monte Carlo simulation revealed an estimated relative error of 2.7% in depth and 1.9% in the horizontal distance for the positioning of clicks. The algorithm successfully reconstructed 64 tracks of diving sperm whales and demonstrated its potential for monitoring within a 12 km radius. Moreover, a simultaneous tracking of a vessel and a sperm whale was performed, illustrating how the method can be used to study potential changes during dives in the presence of vessels. This method offers a reliable, non-invasive approach to studying sperm whale behavior, ecology, and interaction with anthropogenic activities. Full article