Search Results (335)

Pseudoachondroplasia (PSACH), a severe dwarfing condition characterized by impaired skeletal growth and early joint degeneration, results from mutations in cartilage oligomeric matrix protein (COMP). These mutations disrupt normal protein folding, leading to the accumulation of misfolded COMP in chondrocytes. The MT-COMP mouse is a murine model of PSACH that expresses D469del human COMP in response to doxycycline and replicates the PSACH chondrocyte and clinical pathology. The basis for the mutant-COMP pathology involves endoplasmic reticulum (ER) stress signaling through the PERK/eIF2α/CHOP pathway. C/EBP homologous protein (CHOP), in conjunction with a TNFα inflammatory process, upregulates mTORC1, hindering autophagy clearance of mutant COMP protein. Life-long joint pain/degeneration diminishes quality of life, and treatments other than joint replacements are urgently needed. To assess whether molecules that reduce CHOP activity should be considered as a potential treatment for PSACH, we evaluated MT-COMP mice with 50% CHOP (MT-COMP/CHOP^+/−), antisense oligonucleotide (ASO)-mediated CHOP knockdown, and complete CHOP ablation (MT-COMP/CHOP^−/−). While earlier studies demonstrated that loss of CHOP in MT-COMP mice reduced intracellular retention, inflammation, and growth plate chondrocyte death, we now show that it did not normalize limb growth. ASO treatment reduced CHOP mRNA by approximately 60%, as measured by RT-qPCR, but did not improve limb length similar to MT-COMP/CHOP^+/−. Interestingly, both 50% genetic reduction and complete loss of CHOP alleviated pain, while total ablation of CHOP in MT-COMP mice was necessary to preserve joint health. These results indicate that (1) CHOP reduction therapy is not an effective strategy for improving limb length and (2) pain and chondrocyte pathology are more responsive to intervention than the prevention of joint damage. Full article

Knowledge graph completion (KGC) involves inferring missing entities or relationships within a knowledge graph, playing a crucial role across various domains, including intelligent question answering, recommendation systems, and dialogue systems. Traditional knowledge graph embedding (KGE) methods have proven effective in utilizing structured data and relationships. However, these methods often overlook the vast amounts of unstructured data and the complex reasoning capabilities required to handle ambiguous queries or rare entities. Recently, the rapid development of large language models (LLMs) has demonstrated exceptional potential in text comprehension and contextual reasoning, offering new prospects for KGC tasks. By using traditional KGE to capture the structural information of entities and relations to generate candidate entities and then reranking them with a generative LLM, the output of the LLM can be constrained to improve reliability. Despite this, new challenges, such as omissions and incorrect responses, arise during the ranking process. To address these issues, a knowledge-guided LLM reasoning for knowledge graph completion (KLR-KGC) framework is proposed. This model retrieves two types of knowledge from the knowledge graph—analogical knowledge and subgraph knowledge—to enhance the LLM’s logical reasoning ability for specific tasks while injecting relevant additional knowledge. By integrating a chain-of-thought (CoT) prompting strategy, the model guides the LLM to filter and rerank candidate entities, constraining its output to reduce omissions and incorrect responses. The framework aims to learn and uncover the latent correspondences between entities, guiding the LLM to make reasonable inferences based on supplementary knowledge for more accurate predictions. The experimental results demonstrate that on the FB15k-237 dataset, KLR-KGC outperformed the entity generation model (CompGCN), achieving a 4.8% improvement in MRR and a 5.8% improvement in Hits@1. Full article

In the ongoing era of digital transformation, it is imperative for teachers to equip learners with essential digital competences to navigate the intricacies of the digital landscape successfully. As future in-service teachers function as role models and educators for the proper use of digital technology, pre-service teachers must develop adequate digital proficiency. This holds particularly true in Germany, where the prevailing competence levels of pre-service teachers are reportedly suboptimal. To this end, an extracurricular training program for pre-service teachers, based on the DigCompEdu framework, was implemented from 2021 to 2024, coinciding with COVID-19 pandemic-related limitations. A total of 242 pre-service teachers registered for the program, and 40 completed it. Employing a pre–post design, we assessed (1) attitudes towards digital technology and digital learning, (2) competence beliefs, and (3) test-based competences. Pre–post comparisons show an improvement only in participants’ confidence in deploying digital technologies for subject-specific purposes. Unexpectedly, no other statistically significant differences were observed. These findings point at shortcomings in the program, which are discussed to highlight potential areas for refinement and improvement in future programs and curricular implementation. Full article

In beyond fifth-generation networks, millimeter wave (mmWave) is considered a promising technology that can offer high data rates. However, due to inter-cell interference at cell boundaries, it is difficult to achieve a high signal-to-interference-plus-noise ratio (SINR) among users in an ultra-dense mmWave network environment (UDmN). In this paper, we solve this problem with the cooperative transmission technique to provide high SINR to users. Using coordinated multi-point transmission (CoMP) with the joint transmission (JT) strategy as a cooperation diversity technique can provide users with higher data rates through multiple desired signals. Nonetheless, cooperative transmissions between multiple base stations (BSs) lead to increased energy consumption. Therefore, we propose a multi-agent Q-learning-based power control scheme in UDmN. To satisfy the quality of service (QoS) requirements of users and decrease the energy consumption of networks, we define a reward function while considering the outage and energy efficiency of each BS. The results show that our scheme can achieve optimal transmission power and significantly improved network energy efficiency compared with conventional algorithms such as no transmit power control and random control. Additionally, we validate that leveraging channel state information to determine the participation of each BS in power control contributes to enhanced overall performance. Full article

This study investigates the effectiveness of the Sibiu Impact Makers program, a 14-week social entrepreneurship initiative at Lucian Blaga University of Sibiu, which integrates Design Thinking to develop entrepreneurial competencies among students from the faculties of Economic Sciences, Engineering, as well as Social Sciences and Humanities. Using a quasi-experimental design, the study employed a pre-and-post-analysis based on the EntreComp Framework to assess changes in entrepreneurial competencies, revealing significant post-program improvements. To situate this research within the broader academic landscape, a bibliometric analysis was conducted to identify trends linking Design Thinking and entrepreneurial education. The findings indicate that the program enhances entrepreneurial skills, with impact variations tied to students’ learning styles, as classified by the Honey and Mumford Learning Style Questionnaire. However, as a case study with a sample size of 58, findings may have limited generalizability. This research contributes to the discourse on personalized and experiential education, suggesting that integrating Design Thinking with tailored learning strategies can play a vital role in entrepreneurship education. Full article

This study investigates the key components of teachers’ self-assessed artificial intelligence (AI) literacy competencies and how they align with existing digital literacy frameworks. The rapid development of AI technologies has highlighted the need for educators to develop AI-related skills and competencies in order to meaningfully integrate these technologies into their professional practice. A pilot study was conducted using a self-assessment questionnaire developed from frameworks such as DigiCompEdu and the Selfie for Teachers tool. The study aimed to explore the relationships between AI literacy competence and already defined digital skills and competencies through principal component analysis (PCA). The results revealed distinct components of AI literacy and digital competencies, highlighting competence overlaps in some areas, for example, digital resource management, while also confirming that AI literacy competencies form a separate and essential category. The findings show that although AI literacy aligns with other digital skills and competencies, focused attention is required to professionally develop AI-specific competencies. These insights are key elements of future research to refine and expand AI literacy tools for educators, providing targeted professional development programs to ensure that teachers are ready for the opportunities and challenges of AI in education. Full article

This study builds on previous research carried out in 2021 on the self-perception of elementary school teachers in Portugal regarding their digital competences for the pedagogical integration of technologies in educational contexts. In order to verify this perception throughout the country, we extended the research to include teachers from the Autonomous Region of the Azores (ARA), considering the following objectives: (i) to verify teachers’ digital competences; (ii) to identify their levels of digital competence; and (iii) to identify the level of influence of training on the categorization of teachers’ level of digital competence. This is an exploratory study that used an online questionnaire based on the digital competences in Area 2 of the DigCompEdu framework. Two hundred seven teachers took part in this study. The results revealed that teachers seem to feel capable of using technology but need to improve their ability to adapt digital resources for student learning. The global mapping of digital competences will make it possible to verify these competences, these attitudes and abilities, and the integration of ICT into teaching practices as well as helping to outline future projects and guidelines in the area of teacher training in the ARA in particular. Full article

One of the keys towards sustainable policies and advanced air quality monitoring is the detailed assessment of all factors that affect the surface concentrations of greenhouse gases (GHGs) and aerosols. While the development of new atmospheric tracers can pinpoint emission sources, the atmosphere itself plays a relevant role even at local scales: Its dynamics can increase, or reduce, surface concentrations of pollutants harmful to human health and the environment. PBL (planetary boundary layer), or peplospheric, variability is known to affect such concentrations. In this study, an unprecedented characterization of PBL cycles and patterns is performed at the WMO/GAW regional coastal site of Lamezia Terme (code: LMT) in Calabria, Southern Italy, in conjunction with the analysis of key GHGs and aerosols. The analysis, accounting for five months of 2024 data, indicates that peplospheric variability and wind regimes influence the concentrations of key GHGs and aerosols. In particular, PBLH (PBL height) patterns have been tested to further influence the surface concentrations of carbon monoxide (CO), black carbon (BC), and particulate matter (PM). This research introduces four distinct wind regimes at LMT: breeze, not complete breeze, eastern synoptic, and western synoptic, each with its peculiar influences on the local transport of gases and aerosols. This research demonstrates that peplosphere monitoring needs to be considered when ensuring optimal air quality in urban and rural areas. Full article

Developing teacher self-efficacy can be supported through coaching, a process that guides and supports teachers in enhancing their confidence in teaching and learning skills. This study, part of the CONNECT project funded by the European Union and implemented in various countries, investigates how coaching improves teacher performance and self-efficacy within the context of open schooling for sustainability. The coaching process underpinned by the CARE-KNOW-DO framework focused on 45 coaches supporting a total of 790 teachers in the UK, Brazil, Romania, and Spain. A multilanguage digital platform provided resources, guidelines, video, and best practices on open schooling integrated with the Sustainable Development Goals for teachers’ educators and teachers. Through a qualitative study analyzing CARE-KNOW-DO practices in one-on-one dialogue-based strategies, collaborative participatory research, webinars, workshops, and professional development courses, our findings reveal both challenges and catalysts in coaching. Key features of the coaching model that boosted teachers’ self-efficacy included working with mixed-ability classes (UK), overcoming curriculum pressure (Spain), and addressing complex teaching challenges (Romania). Pedagogical changes involved the adoption and co-creation of open schooling materials, along with integrating CARE-KNOW-DO principles and the EU DigComp framework for green digital skills. These insights demonstrate that coaching in open schooling environments for sustainability can significantly enhance teachers’ self-efficacy and the quality of open schooling experiences by increasing teachers’ awareness of challenges, strategies, and outcomes, focusing on meaningful practices, enhancing teaching and learning competencies, and fostering collaborative personal development. Full article

Background: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of skeletal diseases characterized by epiphyseal abnormalities associated with mild short stature. The clinical variability is wide, and the first clinical manifestations still occur in childhood with joint pain and stiffness that evolve into degenerative joint disease. MED, caused by mutations in the Cartilage Oligomeric Matrix Protein (COMP) gene, is the most common form of the disease. COMP-MED usually shows significant involvement of the capital femoral epiphyses and irregular acetabulum; instead, COL9A1-, COL9A2-, and COL9A3-MED appear to have more severe knee involvement than hips, resulting in a milder presentation than COMP-MED cases. Other complications have been reported, in particular osteochondritis dissecans (OCD), which has been described in two large COL9A2-related MED families associated with myopathy. Methods: Here, we report the case of a 24-year-old man affected by COMP-MED with a positive family history for the disease and a clinical presentation that interestingly is characterized by the presence of multiple OCD. Results: To our knowledge, this is the first case of COMP mutations related to multiple OCD as the main clinical feature. Conclusions: This report can expand the clinical phenotype related to the pathogenic variants of the COMP gene, as it shows that multiple OCD can also be present in COMP-related MED as well as in COL9A2-related MED. Full article

Background/Objectives: The Mediterranean dietary pattern (MedDiet) has numerous health benefits, particularly in preventing chronic diseases and improving well-being. Given the ageing population, understanding its impact on older adults’ physical health is essential. This study examines how adherence to the MedDiet influences the physical component (Comp-p) of health-related quality of life (HRQoL) across various age groups, providing insights for tailored dietary interventions. Methods: A cross-sectional study was conducted with active adults aged 41–80, categorised into four age groups (41–50, n = 116; 51–60, n = 225; 61–70, n = 135; 71–80, n = 44). Data were collected using the SF-36 and MEDAS questionnaires. Com-p scores were analysed based on MedDiet adherence (poor or good) and age. Results: In the 71–80 age group, a significant correlation was found between Comp-P and MedDiet adherence (r = 0.367, p = 0.014), with significantly higher Com-P scores in the good adherence group (50.10 ± 7.39) compared to the poor group (44.46 ± 7.73; p = 0.015; d = 0.74). The loss of adherence to the Mediterranean diet in this age group was attributed to low consumption of vegetables (36.36%), tree nuts (47.73%), legumes (50.00%), fish (52.27%), and fruit (56.82%). Conclusions: In individuals aged 71–80, lower adherence to the Mediterranean diet is associated with a decline in self-perceived physical health, attributed to the reduced intake of fresh vegetables, legumes, fish, and fruit. These findings emphasise the importance of promoting Mediterranean dietary adherence in later life to maintain optimal physical well-being. Full article

Formaldehyde (HCHO) is harmful to human health and an adequate assessment of its concentrations, both in outdoor and indoor environments, is necessary in the context of sustainable policies designed to mitigate health risks. In this research, ground indoor and outdoor HCHO measurements are integrated with the analysis of tropospheric total columns obtained by satellite surveys to assess the concentrations of HCHO in a number of environments, exploiting the proximity of a World Meteorological Organization—Global Atmosphere Watch (WMO/GAW) observation site in Calabria, Southern Italy to a National Institute for Insurance against Accidents at Work (INAIL) department in the municipality of Lamezia Terme. The meteorological parameters used by the WMO station are also used to provide additional data and test new correlations. Using statistical significance tests, this study demonstrates the presence of a correlation between indoor and outdoor HCHO concentrations, thus showing that an exchange between indoor and outdoor formaldehyde does occur. Rooms located in the local INAIL building where indoor measurements took place also demonstrate degrees of susceptibility to HCHO exposure, which are correlated with the orientation of prevailing wind corridors in the area. The new findings constitute an unprecedented characterization of HCHO hazards in Calabria and provide regulators with new tools with which to mitigate formaldehyde-related risks. Full article

University students’ digital skills depend significantly on educators’ proficiency, necessitating regular assessments. Tools like DigComp and the TPACK model are provided in this technological context. A systematic review, following PRISMA criteria, aims to evaluate digital competencies through globally used tools. DigCompEdu is prominent, with Spain leading the research, while unvalidated instruments from Asia highlight global disparities. This review will identify key tools and expose geographical and validation gaps, stressing the need for standardized assessments. Understanding the predominance of DigCompEdu and seeing the variation that is generated in Asia highlights the poor ability to transmit self-perceived competencies to learners. Full article

Background: ST-elevation myocardial infarction (STEMI) and Takotsubo syndrome (TS) are two distinct cardiac conditions that both result in sudden loss of cardiac dysfunction and that are difficult to distinguish clinically. This study compared plasma protein changes in 24 women with STEMI and 12 women with TS in the acute phase (days 0–3 post symptom onset) and the stabilization phase (days 7, 14, and 30) to examine the molecular differences between these conditions. Methods: Plasma proteins from STEMI and TS patients were extracted during the acute and stabilization phases and analyzed via quantitative proteomics. Differential expression and functional significance were assessed. Data are accessible on ProteomeXchange, ID PXD051367. Results: During the acute phase, STEMI patients showed higher levels of myocardial inflammation and tissue damage proteins compared to TS patients, along with reduced tissue repair and anti-inflammatory proteins. In the stabilization phase, STEMI patients exhibited ongoing inflammation and disrupted lipid metabolism. Notably, ADIPOQ was consistently downregulated in STEMI patients in both phases. When comparing the acute to the stabilization phase, STEMI patients showed increased inflammatory proteins and decreased structural proteins. Conversely, TS patients showed increased proteins involved in inflammation and the regulatory response to counter excessive inflammation. Consistent protein changes between the acute and stabilization phases in both conditions, such as SAA2, CRP, SAA1, LBP, FGL1, AGT, MAN1A1, APOA4, COMP, and PCOLCE, suggest shared underlying pathophysiological mechanisms. Conclusions: This study presents protein changes in women with STEMI or TS and identifies ADIPOQ, SAA2, CRP, SAA1, LBP, FGL1, AGT, MAN1A1, APOA4, COMP, and PCOLCE as candidates for further exploration in both therapeutic and diagnostic contexts. Full article

Unlike stratospheric ozone (O₃), which is beneficial for Earth due to its capacity to screen the surface from solar ultraviolet radiation, tropospheric ozone poses a number of health and environmental issues. It has multiple effects that drive anthropogenic climate change, ranging from pure radiative forcing to a reduction of carbon sequestration potential in plants. In the central Mediterranean, which itself represents a hotspot for climate studies, multi-year data on surface ozone were analyzed at the Lamezia Terme (LMT) WMO/GAW coastal observation site, located in Calabria, Southern Italy. The site is characterized by a local wind circulation pattern that results in a clear differentiation between Western-seaside winds, which are normally depleted in pollutants and GHGs, and Northeastern-continental winds, which are enriched in these compounds. This study is the first detailed attempt at evaluating ozone concentrations at LMT and their correlations with meteorological parameters, providing new insights into the source of locally observed tropospheric ozone mole fractions. This research shows that surface ozone daily and seasonal patterns at LMT are “reversed” compared to the patterns observed by comparable studies applied to other parameters and compounds, thus confirming the general complexity of anthropogenic emissions into the atmosphere and their numerous effects on atmospheric chemistry. These observations could contribute to the monitoring and verification of new regulations and policies on environmental protection, cultural heritage preservation, and the mitigation of human health hazards in Calabria. Full article