Search Results (429)

Background: Cardiac involvement is common in Fabry disease (FD) and typically manifests with left ventricular hypertrophy (LVH). Patients with FD are frequently misdiagnosed, and this is mainly related to the lack of disease awareness among clinicians. The aim of this study was to determine whether providing a targeted educational intervention on FD may enhance FD diagnosis. Methods. This research was designed as a single-arm before-and-after intervention study and evaluated the impact of providing a specific training on FD to cardiologists from different Italian centers, without experience in rare diseases. In the 12-month period after the educational intervention, the rate of FD screening and diagnosis was assessed and compared with those conducted in the two years preceding the study initiation. Results: Fifteen cardiologists participated to this study, receiving a theoretical and practical training on FD. In the two previous two years, they conducted 12 FD screening (6/year), and they did not detect any cases of FD. After the training, they performed 45 FD screenings, with an eight-fold rise in the annual screening rate. The screened population (age: 61 ± 11 years, men: 82%) was mainly composed of patients with unexplained LVH (n = 43). There were four new FD diagnoses and, among of them, three had a late-onset GLA variant. After the cascade genetic screening, 11 affected relatives and 8 heterozygous carriers were also detected. Conclusions: A targeted educational intervention for cardiologists allowed the identification of four new families with FD. Enhancing FD awareness is helpful to reduce the diagnostic and therapeutic delay. Full article

Background/Objectives: Fatigue and cognitive impairment are common issues for People with Multiple Sclerosis (PwMS), affecting over 80% and 40–65%, respectively. The relationship between these two debilitating conditions is complex, with cognitive deficits exacerbating fatigue and vice versa. This study investigates the effects of a multimodal intervention combining cognitive rehabilitation and neuromodulation to alleviate fatigue and enhance cognitive performance in PwMS. Methods: The research employed multiple baselines across the subjects in a Single-Case Experimental Design (mbSCED) with a cohort of three PwMS diagnosed with Relapsing–Remitting MS. The intervention protocol consisted of a baseline phase followed by a four-week treatment involving transcranial direct current stimulation (tDCS) and cognitive training using RehaCom^® software (version 6.9.0). Fatigue levels were measured using the modified Fatigue Impact Scale (mFIS), while cognitive performance was evaluated through standardized neuropsychological assessments. Results: The multimodal protocol exhibited high feasibility and acceptability, with no dropouts. Individual responsiveness outcomes varied, with two PwMS showing significant decreases in fatigue and improvements in cognitive performance, particularly in the trained domains. Their motor performance and quality of life also improved, suggesting that the treatment had indirect beneficial effects. Conclusions: This study provides preliminary evidence for the potential benefits of integrating neuromodulation and cognitive rehabilitation as a personalized therapeutic strategy for managing fatigue and cognitive impairments in MS. Further research is needed to delineate the specific contributions of each intervention component and establish standardized protocols for clinical implementation. The insights gained may lead to more effective, tailored treatment options for PwMS. Full article

Some children with autism may require additional support to meet academic expectations for comprehension. Because an extensive set of research links oral narration to listening and reading comprehension, the promotion of narrative-based skills may be a viable intervention approach. The purpose of this study was to examine the effect of narrative intervention with explicit strategy instruction on the listening and reading retells of children with autism after hearing and decoding novel stories. Four children with autism aged 7 and 9 years old participated in this multiple baseline across participants single-case experimental design study. Behavioral therapists delivered the narrative intervention, which included explicit instruction on the use of story grammar icons, to each child individually within the course of their therapy. Results showed that all participants improved their listening (TauU ES range = 0.64–1.06) and reading (TauU ES range = 0.72–1.15) retells, but they required extended use of the icon strategy to achieve the most benefit. When icons were completely removed, three of the four participants performed above baseline levels on the listening and reading comprehension measures. Full article

Investigating the construction of greenway network systems in mountainous suburban areas from an integrated “ecology–recreation” perspective is crucial for promoting the coordinated development of regional multifunctionality. Taking Jinma Mountain in Kunming as a specific case study, this research comprehensively adopts a multivalue, multidimensional perception evaluation method to construct an assessment framework for suburban mountainous greenway networks that couples ecological and recreational functions. The results show that the Jinma Mountain greenway network exhibits a unique “multiple rings intertwined and dense network” pattern, with an optimized density of 0.79 km/km², achieving efficient utilization. Compared to single-function greenways, the network’s ring index (α), connectivity index (β), and cohesion index (γ) have improved by 12.88%, 20%, and 4.19%, respectively, demonstrating a high degree of coupling and coordination. These improvements demonstrate the rationality and scientific rigor of the designed evaluation system, offering significant advantages over traditional single-function greenways. This comprehensive evaluation system not only supplements existing research on greenway networks but also provides a theoretical reference for integrated “ecology–recreation” and sustainable development in mountainous suburban areas. Full article

Background/Objectives: Obesity, a major risk factor for cardiometabolic traits, is influenced by both genetic and environmental factors. Genetic studies have identified multiple single-nucleotide polymorphisms (SNPs) associated with obesity and related traits. This study aimed to examine the association between genetic risk score (GRS) and obesity-associated traits, while incorporating SNPs with established gene–diet interactions to explore their potential role in precision nutrition (PN) strategies. Methods: A total of 4279 participants were stratified into low- and intermediate-/high-GRS groups based on 18 SNPs linked to obesity and cardiometabolic traits. This study followed a case–control design, where cases included individuals with overweight/obesity, T2DM-positive (+), or CVD-positive (+) individuals and controls, which comprised individuals free of these traits. Logistic regression area under the curve (AUC) models were used to assess the predictive power of the GRS and traditional risk factors on BMI, T2DM and CVD. Results: Individuals in the intermediate-/high-GRS group had higher odds of being overweight or obese (OR = 1.23, CI: 1.03–1.48, p = 0.02), presenting as T2DM+ (OR = 1.56, CI: 1.03–2.49, p = 0.03) and exhibiting CVD-related traits (OR = 1.56, CI: 1.25–1.95, p < 0.0001), compared to the low-GRS group. The GRS was the second most predictive factor after age for BMI (AUC = 0.515; 95% CI: 0.462–0.538). The GRS also demonstrated a predictive power of 0.528 (95% CI: 0.508–0.564) for CVD and 0.548 (95% CI: 0.440–0.605) for T2DM. Conclusions: This study supports the potential utility of the GRS in assessing obesity and cardiometabolic risk, while emphasizing the potential of PN approaches in modulating genetic susceptibility. Incorporating gene–diet interactions provides actionable insights for personalized dietary strategies. Future research should integrate multiple gene–diet and gene–gene interactions to enhance risk prediction and targeted interventions. Full article

Form-based design codes have emerged as a planning tool aimed at shaping the physical form of neighborhoods to reinforce local character and enhance sense of place (SoP). However, their effectiveness in delivering these outcomes remains underexplored. This study investigates the extent to which Buffalo’s Green Code—a form-based zoning ordinance—enhances SoP in residential environments, using Elmwood Village as a case study. A multi-scalar analytical framework assesses SoP at the building, street, and neighborhood levels. Empirical data were gathered through an online survey, while the neighborhood was systematically mapped into street segment blocks categorized by Green Code zoning. The study consolidates six Green Code classifications into three overarching categories: mixed-use, residential, and single-family. SoP satisfaction is analyzed through a two-step process: first, comparative assessments are conducted across the three zoning groups; second, k-means clustering is applied to spatially map satisfaction levels and evaluate SoP at different scales. Findings indicate that mixed-use areas are most closely associated with place identity, while residential and single-family zones (as defined by the Buffalo Green Code) yield higher satisfaction overall—though satisfaction varies significantly across spatial scales. These results suggest that while form-based codes can strengthen SoP, their impact is uneven, and more scale-sensitive zoning strategies may be needed to optimize their effectiveness in diverse urban contexts. This research overall offers an empirically grounded, multi-scalar assessment of zoning impacts on lived experience—addressing a notable gap in the planning literature regarding how form-based codes perform in established, rather than newly developed, neighborhoods. Full article

Acute lymphoblastic leukemia (ALL) is the most common cancer affecting children, making up about 80% of all acute leukemia cases in the pediatric population. While treatment with L-asparaginase (ASNase) has greatly improved survival rates, its bacterial origin often causes immune reactions in some patients, which can reduce how well the therapy works. To overcome this challenge, previous in silico studies designed a humanized chimeric ASNase by swapping out the predicted immunogenic parts of the bacterial enzyme with similar, less immunogenic segments from the human version—while keeping the enzyme’s active site intact. In this study, the chimeric L-asparaginase designed was successfully cloned, expressed, and purified using the Escherichia coli Rosetta strain. The production conditions (37 °C, 0.01 mM IPTG, 2–4 h) were optimized, and we purified the enzyme in a single step with nickel-affinity chromatography. The enzyme’s activity was confirmed in vitro, showing that it is possible to produce a functional humanized variant in a bacterial system. These results lay important groundwork for future research to assess the immune response and therapeutic potential of this novel chimeric enzyme. Full article

The purpose of this research was to indicate the importance of an efficient design of steel frame structures, taking into account the fire design situation. In the case of steel frame structures, the typical mechanisms of failure (sway, beam, and mixed) are well known. Using this knowledge, combined with a reliability assessment of single nodes, may let designers reduce both the amount of material used for a structure and the total cost of the structure. In this article, one-story, single-nave frames with different loads were analyzed. Two types of loads were analyzed: symmetrical and unsymmetrical. Both cases resulted in different failure paths. The static analysis of the structure in the following minutes of the fire duration was carried out in the Robot Structural Analysis programme. The temperature load was computed according to the Eurocode recommendation with the assumption that the temperature of fire gases is described by the standard fire curve. Afterward, the system reliability analysis for the selected failure paths was conducted. Additionally, the displacement analysis was performed in the following minutes of the fire. The biggest challenge in the proposed method is that there are many potential failure paths, and checking all of them is very time-consuming, even when using advanced computers. Therefore, only selected collapse modes were analyzed. Full article

Background: This paper proposes a conceptual framework for a multifunctional mobility hub (MMH) that co-locates shared e-mobility services, urban logistics, and charging/storage infrastructure within a single site. Aimed at high-density European cities, the MMH model addresses current gaps in both research and practice, where multimodal mobility services, logistics, and energy are rarely planned in an integrated manner. Methods: A mixed-methods approach was applied, including a systematic literature review (PRISMA), expert interviews, case studies, and a stakeholder workshop, to identify synergies across fleet types and operational domains. Results: The analysis reveals key design principles for MMHs, such as interoperable charging, the functional separation of passenger and freight flows, and modular, scalable infrastructure adapted to urban constraints. Conclusions: The MMH serves as a preliminary concept for planning next-generation mobility stations. It offers qualitative insights for urban planners, operators, and policymakers into how multifunctional hubs may support lower emissions, more efficient operations, and shared infrastructure use. Full article

In the current context of tight constraints on land resources in major Chinese cities, the development of underground space in green spaces (USGSs) has become an important approach to exploit land use potential and alleviate the contradiction between human and land resources. Evaluating USGS development potential scientifically is crucial for project site selection and improving underground space utilization. However, most studies have focused on underground space as a whole, with limited attention to single land use types, and research on USGSs has mainly concentrated on planning and design. This study proposes a two-stage evaluation framework for urban green spaces, identifying suitable development areas while safeguarding ecological functions. The framework evaluates from “restrictiveness” and “suitability”: first extracting developable green spaces by restrictiveness evaluation and then assessing development potential by suitability evaluation. This approach overcomes traditional methods that disregard prerequisite relationships among factors. A case study in Binjiang District, Hangzhou, showed that small green spaces and connectivity were key limiting factors for the development of USGSs. The proposed framework could provide some degree of reference for future development potential evaluation of USGSs, and the results could provide actionable guidance for high-density built environments similar to Binjiang District. Full article

The rapid growth of the global population and associated increases in resource consumption have accelerated environmental degradation, making sustainable design and construction processes increasingly essential. The construction sector holds significant potential for reducing environmental impacts, especially through sustainability-focused certification systems such as LEED. This study evaluates the projected energy efficiency and sustainability performance of the Surgical Sciences Building at Istanbul University’s Çapa Campus, which was designed with the goal of achieving LEED Gold certification. The assessment is based on design-phase data and conducted prior to construction. Energy performance analyses were carried out using DesignBuilder software, supported by the LEED Assessment Report and Energy Audit Report. According to simulation results, approximately 30% savings in energy consumption and water usage are expected. In addition, the process-oriented LEED approach is expected to result in a total CO₂ emission savings of approximately 570 tonnes, while renewable energy systems are expected to meet approximately 13% of the building’s primary energy demand and reduce CO₂ emissions by approximately 151 tonnes per year. Waste management strategies developed for both the construction and operational phases are aligned with LEED criteria and aim to achieve up to 80% recycling rates. The findings demonstrate that LEED certification, when employed as a process-oriented design and decision-making tool rather than a result-oriented label, can enable sustainable strategies to be integrated from the earliest stages of project development. Particularly for complex healthcare buildings, embedding LEED principles into the design process has strong potential to enhance environmental performance. Although based on a single case study, this research provides valuable insight into the broader applicability of LEED in diverse building types and geographic contexts. Full article

Roof water inrush accidents in coal mine driving roadways occur frequently in China, accounting for a high proportion of major coal mine water hazard accidents and causing serious losses. Aiming at the lack of research on the mechanism of roof water inrush in driving roadways and the difficulty of predicting water inrush accidents, this paper constructs a local damage criterion for coal–rock mass and a seepage–fracture coupling model based on peridynamics (PD) bond theory. It identifies three zones of water-conducting channels in roadway surrounding rock, the water fracture zone, the driving fracture zone, and the water-resisting zone, revealing that the damage degree of the water-resisting zone dominates the transformation mechanism between delayed and instantaneous water inrush. A discriminant function for the effectiveness of water-conducting channels is established, and a single-index prediction and evaluation system based on damage critical values is proposed. A “geometry damage” dual-control water inrush prediction model within the PD framework is constructed, along with a non-local action mechanism model and quantitative prediction method for water inrush. Case studies verify the threshold for delayed water inrush and criteria for instantaneous water inrush. The research results provide theoretical tools for roadway water exploration design and water hazard prevention and control. Full article

Nowadays, there are many studies that have been conducted in order to reduce the emissions of modern reciprocating engines without, at the same time, having a negative impact on the performance characteristics. One method to accomplish that is by using ethanol-supplemented fuels instead of conventional gasoline. On the other side of the spectrum, spark timing is one of the most important parameters that affects the combustion mechanism inside a reciprocating engine and is basically controlled by the ignition advance of the engine. Therefore, the main purpose of this study is to investigate the effect of spark timing alteration on the performance characteristics and emissions of a modern reciprocating, naturally aspirated, aircraft SI engine (i.e., ROTAX 912s), operated under four different engine operating points (i.e., combination of engine speed and throttle opening), by using ethanol-supplemented fuel. The implementation of the aforementioned method is achieved through the use of an advanced simulating software (i.e., GT-POWER), which provides the user with the possibility to completely design a piston engine and parameterize it, by using a comprehensive single-zone phenomenological model, for any operating conditions in the entire range of its operating points. The predictive ability of the designed engine model is evaluated by comparing the results with the experimental values obtained from the technical manuals of the engine. For all test cases examined in the present work, the results are affiliated with important performance characteristics, i.e., brake power, brake torque, and brake-specific fuel consumption, as well as specific NO and CO concentrations. Thus, the primary objectives of this study were to examine and evaluate the results of the combination of using ethanol-supplemented fuel instead of gasoline and the alteration of the spark timing, to asses their effects on the basic performance characteristics and emissions of the aforementioned type of engine. By examining the results of this study, it is revealed that the increase in the ethanol concentration in the gasoline–ethanol fuel blend combined with the increase in the ignition advance might be an auspicious solution in order to meliorate both the performance and the environmental behavior of a naturally aspirated SI aircraft piston engine. In a nutshell, the outcoming results of this research show that the combination of the two methods examined may be a valuable solution if applied to existing reciprocating SI engines. Full article

This paper presents the development of fleet management software for mobile robots, including AGV and AMR technologies, within the scope of a case study from the GreenAuto project. The system was designed to integrate position and status data from different robots, unifying this information into a single map. To achieve this, a web-based platform was developed to allow the simultaneous, real-time visualization of all robots in operation. However, the main challenge of this research lies in the heterogeneity of the fleet, which comprises robots of different makes and models from various manufacturers, each using distinct data formats. The proposed approach addresses this by facilitating fleet monitoring and management, ensuring a greater efficiency and coordination in the robot movement. The results demonstrate that the platform improves the traceability and operational supervision, promoting the optimized management of mobile robots. It is concluded that the proposed solution contributes to industrial automation by providing an intuitive and centralized interface, enabling future expansions for new functionalities and the integration with other emerging technologies. The proposed system demonstrated efficiency in updating and supervising operations, with an average latency of 120 ms for task status updates and an interface refresh rate of less than 1 s, enabling near real-time supervision and facilitating operational decision-making. Full article

Rape is typically committed as a one-on-one crime. However, a relatively high number of rapes (2–27%) involve a single victim and multiple perpetrators. These cases are often referred to as “gang” rapes but are also termed Multiple Perpetrator Rape (MPR). Despite these data, there is a scarce amount of legal decision-making research on this issue. This study investigated legal decision making in an acquaintance rape case involving multiple perpetrators. This study was a 2(Defendant Number: one vs. three) × 2(Victim Intoxication: intoxicated vs. sober) × 2(Participant Gender: women vs. men) between-participants design. Online community members (N = 171) were randomly assigned to read a trial summary involving one of four conditions. The primary results showed that, when the case involved multiple (vs. one) perpetrators, mock jurors were more likely to vote guilty, perceived the victim to be more helpless, and reported less sympathy for the defendant and lower defendant credibility. Cognitive networks showed that jurors in the MPR condition emphasized the number of perpetrators as a primary reason for voting guilty. Finally, there was evidence of a serial indirect effect involving victim helplessness and defendant blame that explained the relation between the number of defendants and verdicts, as well as parallel indirect effects of defendant credibility, sympathy, and anger, and victim helplessness on verdicts. Implications for prosecuting MPR cases are discussed. Full article