Search Results (126)

Congenital Myasthenic Syndrome represents a complex and heterogeneous group of inherited neuromuscular disorders, which result from variants in genes involved in different pathophysiological mechanisms related to the neuromuscular junction. LRP4 (Low-density lipoprotein receptor-related protein 4) represents one of the most important proteins involved in this complex signaling pathway, acting in a complex with agrin and Muscle Skeletal Receptor Tyrosine Kinase (MuSK) proteins. LRP4 became known to most neurologists due to the description of anti-LRP4 antibody-related Myasthenia Gravis. There are, however, different neurological and neuromuscular disorders that result from pathogenic variants in LRP4 gene, especially a rare and potentially treatable Congenital Myasthenic Syndrome. The authors performed a detailed narrative review, including descriptions of the main pathophysiological, clinical, and therapeutic aspects of LRP4-related Congenital Myasthenic Syndromes. Full article

Arthrogryposis multiplex congenita (AMC) is a diverse group of conditions characterized by multiple joint contractures. Although individually rare, these disorders are estimated to affect 1 in 3000–5000 live births. Their common pathophysiological mechanism is fetal akinesia, a sustained reduction of fetal movement that may arise from intrinsic disturbances—such as central nervous system malformations, motor neuronopathies, neuropathies, neuromuscular junction defects, congenital myopathies, muscular dystrophies, or metabolic diseases—or from extrinsic factors including uterine constraint, maternal illness, infections, or toxic exposures. Reduced fetal motion leads to relatively uniform clinical manifestations, known as the fetal akinesia deformation sequence (FADS), which is characterized by craniofacial anomalies, pulmonary hypoplasia, growth restriction, and contractures. Currently, AMC is classified by clinical features, such as distal arthrogryposis or lethal congenital contracture syndromes. However, advances in molecular genetics have shown wide variability among conditions classified into the same category. Prognosis is widely variable, ranging from lethal perinatal forms to non-progressive mild conditions. This review discusses AMC etiologies from a topographic standpoint, considering the different levels of the motor system involved, by combining current clinical, genetic, and pathophysiological information. Full article

The building sector is responsible for 40% of CO₂ emissions in Portugal, making the integration of renewable energy systems increasingly relevant. Photovoltaic (PV) technologies have become more accessible due to declining levelized costs of energy, and when coupled with battery energy storage systems (BESSs), they can enhance grid independence, reduce household energy expenses, and mitigate peak load stress. However, high upfront costs still limit adoption, particularly among vulnerable communities. This study evaluates the technical, economic, and environmental performance of PV systems, with and without BESSs, compared with an existing solar thermal configuration in a social-housing neighbourhood in Porto, Portugal. Numerical simulations were conducted for three scenarios, optimising system sizing and ensuring hourly energy flow balance between generation, storage, and grid supply. Results indicate that all configurations are technically feasible within Porto’s climate conditions, though with distinct investment needs, payback periods, and CO₂ reduction outcomes. The findings offer practical guidance for designing renewable energy solutions tailored to social housing, supporting both decarbonization goals and long-term mitigation of energy poverty. Full article

The numerous health benefits associated with the use of plants in traditional medicine can be linked to secondary metabolites in the products obtained through the hydrodistillation process, such as hydrolates and essential oils (EOs). This study aimed to assess the chemical profile and the antioxidant, antimicrobial, cytotoxic, and anti-inflammatory activities of two hydrodistillation products obtained from four plants belonging to two distinct families: chamomile (Matricaria chamomilla), purple coneflower (Echinacea purpurea), conehead thyme (Thymbra capitata), and basil (Ocimum basilicum). The EOs were found to be more effective than hydrolates in inhibiting microorganisms’ growth, registering MIC values equal to or higher than 50% (v/v), except for T. capitata. Only T. capitata demonstrated the ability to reduce NO levels with both hydrolate and EO. Moreover, it inhibited the cell growth of RAW 264.7, 3T3, and HaCaT lines at the tested concentrations. In contrast, O. basilicum EO did not affect the cell proliferation of the tested cell lines in concentrations below 0.063% (v/v) and showed a significant reduction in the macrophage NO production at all concentrations. Thus, EOs showed a superior biological activity than hydrolates. In particular, O. basilicum EO was found to be a promising candidate for therapeutic applications on the skin. Full article

Skin cancer is the most common cancer worldwide, with ultraviolet radiation (UVR) being a major risk factor. Excessive UVR exposure can damage the skin and eyes, making it essential to monitor the Ultraviolet Index (UVI). However, few affordable devices are available for this purpose, limiting public awareness. This study presents the development, calibration, and experimental validation of a low-cost UVI monitoring device against a professional radiometer. The prototype was deployed in Campina Grande, Paraíba, Brazil, and its measurements were systematically compared with data from a nearby automatic meteorological station. The device, based on the UVM-30A sensor, measures UV radiation and transmits UVI values via a mobile application and a public display. Statistical analysis showed strong agreement with reference data, where Pearson Correlation Coefficient r = 0.849 (R² = 0.721 and RMSE = 1.26), and Confidence Index c = 0.917. The device provides an accessible tool for real-time UVI monitoring, promoting public awareness of solar radiation risks and supporting public photoprotection policies. Full article

Background/Objectives: Platelet-rich plasma (PRP) has become a therapeutic option for tendinopathies. Its clinical efficacy depends on several factors, including the target tendon. The aim of this study was to evaluate the PRP efficacy for tendinopathies in the rotator cuff (RC), Achilles tendon (AT), and patellar tendon (PT). Methods: We conducted a prospective cohort study including patients with RC, AT and PT tendinopathies. Each patient received three multitarget PRP (intratendinous and peritendinous) treatments at intervals of two weeks. Clinical outcomes were assessed at baseline and 6 months using tendon-specific scores (DASH for RC, VISA-A for AT and VISA-P for PT). Responders were identified based on the Minimal Clinically Important Improvement (MCII). Comparative statistical tests and multivariate regression were performed for the analysis. Results: A total of 49 patients were included (RC: 15, AT: 18, PT: 16). The number of responders at 6 months was 33 (67.4%), with 11 (73.3%) in the RC Group, 14 (75.0%) in the AT Group and 8 (50.0%) in the PT Group. The RC and AT patients experienced a significant improvement according to their scores (p < 0.001), which was not seen in the PT group (p = 0.065). The percentage of responders was higher in women (12/13, 92.3%) than men (21/36, 58.3%) (p = 0.025). Conclusions: Repeated intratendinous and peritendinous PRP injections in RC, AT, and PT tendinopathy improved joint-related function six months after treatment. This improvement was less pronounced in patients with PT and the proportion of responders was higher among women. Full article

This systematic review maps and compares experimental strategies for estimating residual expansion in concrete elements affected by internal expansive reactions (IER), with emphasis on cores extracted from in-service structures. It adopts an operational taxonomy distinguishing achieved expansion (deformation already occurred, inferred through DRI/SDT or back-analysis), potential expansion (upper limit under free conditions), and residual expansion (remaining portion estimated under controlled temperature, T, and relative humidity, RH), in addition to the free vs. restrained condition and the diagnostic vs. prognostic purpose. Seventy-eight papers were included (PRISMA), of which 14 tested cores. The limited number of core-based studies is itself a key outcome of the review, revealing that most residual expansion assessments rely on adaptations of laboratory ASR/DEF protocols rather than on standardized methods specifically developed for concrete cores extracted from in-service structures. ASR predominated, with emphasis on accelerated free tests ASTM/CSA/CPT (often at 38 °C and high RH) for reactivity characterization, and on Laboratoire Central des Ponts et Chaussées (LCPC) No. 44 and No. 67 protocols or Concrete Prism Test (CPT) adaptations to estimate residual expansion in cores. Significant heterogeneity was observed in temperature, humidity, test media, specimen dimensions, and alkali leaching treatment, as well as discrepancies between free and restrained conditions, limiting comparability and lab-to-field transferability. A minimum reporting checklist is proposed (type of IER; element history; restraint condition; T/RH/medium; anti-leaching strategy; schedule; instrumentation; uncertainty; decision criteria; raw data) and priority gaps are highlighted: standardization of core protocols, leaching control, greater use of simulated restraint, and integration of DRI/SDT–expansion curves to anchor risk estimates and guide rehabilitation decisions in real structures. Full article

Background/Objectives: Healthcare-associated infections (HAIs) require specific skills in nursing education, yet their curricular integration often remains fragmented, limiting the consolidation of knowledge and safe clinical practice. This study aimed to explore the perceptions of nursing students from Brazil and Peru regarding the use of clinical simulation as a strategy to develop skills in HAIs prevention and control. Methods: A qualitative approach was employed, involving 12 focus groups (n = 297 students) across four universities. The discussions were conducted following simulation activities based on standardized scenarios structured into four phases: pre-reading, briefing, execution, and debriefing. Data were collected using a semi-structured interview guide flowed by content analysis, through which saturation was achieved. The study adhered to COREQ guidelines. Results: Three main themes emerged: (i) clinical simulation as a student-centered teaching–learning strategy, where pre-reading and briefing materials enhanced students’ confidence and clarity in performing tasks, with checklists suggested to avoid omissions; (ii) simulation as a facilitator of autonomy and safety in HAI prevention, offering a protected environment for making mistakes and learning, with formative feedback during debriefing increasing risk awareness, although debriefing time was noted as an area for improvement; and (iii) meaningful learning and integration with traditional education, as students reported increased engagement, better knowledge retention, and greater perceived transfer of skills to real clinical settings. Conclusions: Clinical simulation demonstrated strong potential to support the development of HAI prevention skills in undergraduate nursing students. Longitudinal implementation with standardized scenarios and further evaluation of educational effectiveness and debriefing strategies is recommended. Full article

Natural fillers have been widely explored to enhance the mechanical and barrier properties of biodegradable films. In this study, a mineral-rich powder obtained from the solid components of Ucides cordatus crab shells was processed (washing, drying, milling, and sieving at 75 µm) and extensively characterized using SEM, FTIR XRD, EDX, mineral analysis, hygroscopicity, density, and particle size distribution. The powder exhibited heterogeneous morphology and contained 22.52 g·kg⁻¹ of calcium carbonate, along with other trace minerals; its crystalline profile indicated the presence of both calcite and aragonite. Low hygroscopicity (1.76%) and a true density of 2.11 g/cm³ were also observed. When incorporated into pectin-based films at 1–5%, the filler promoted a reduction in film thickness, indicating enhanced structural compaction. Solubility increased linearly with filler content, whereas water vapor permeability (WVP) decreased at 1% and 2% but rose again at 4% and 5%, correlating positively with solubility (r = 0.895). Films containing 4% and 5% exhibited higher tensile strength and elastic modulus, confirming increased rigidity. At elevated concentrations, the films also became less luminous and more chromatic. Overall, the findings demonstrate that crab-shell mineral powder is a viable and sustainable reinforcement capable of tailoring the structural, mechanical, and barrier performance of biodegradable films. Full article

Background: This study evaluates the impact of fibrinogen enrichment on the structural, mechanical, and bioactive properties of fibrin scaffold derived from balanced protein-concentrate plasma (BPCP), an autologous platelet-rich plasma (PRP) formulation with elevated extraplatelet content. Methods: A novel high-fibrinogen BPCP (HF-BPCP) scaffold was produced by combining BPCP platelet lysate with a concentrated fibrinogen solution at a 1:1 ratio, yielding nearly four-fold physiological fibrinogen levels. Comparative analyses between HF-BPCP and standard BPCP included platelet and fibrinogen quantification, scanning electron microscopy (SEM), rheology, indentation, adhesion testing, coagulation kinetics, retraction assays, biodegradation profiling, and growth factor (GF) release kinetics. Results: HF-BPCP displayed significantly denser fibrin networks with thinner fibers, higher porosity, and markedly faster coagulation times compared to BPCP. Mechanically, HF-BPCP exhibited greater stiffness, higher energy dissipation, and more stable adhesion, while almost eliminating scaffold retraction at 24 h. Despite improved early handling and structural integrity, HF-BPCP degraded more rapidly in vitro under tissue plasminogen activator exposure. GF release analysis showed reduced early peaks of platelet-derived factors (TGF-β1, PDGF-AB, VEGF) but sustained release thereafter, while extraplatelet factors (IGF-1, HGF) exhibited similar profiles between scaffolds. Conclusions: These results indicate that fibrinogen enrichment synergizes with the elevated extraplatelet protein profile of BPCP to enhance scaffold mechanical stability, handling properties, and controlled GF delivery. HF-BPCP combines the adhesive, structural, and bioactive features of fibrin sealants with the regenerative potential of PRP, offering a fully autologous alternative for clinical applications requiring rapid coagulation, high mechanical support, and sustained GF availability. Further preclinical and clinical studies are needed to evaluate therapeutic efficacy in the regenerative medicine field. Full article

Tuberculosis (TB), caused by Mycobacterium tuberculosis (MTB), remains one of the most devastating infectious diseases worldwide, with rising multidrug resistance limiting the effectiveness of conventional treatments. Novel therapeutic approaches are urgently needed to complement or replace existing regimens. Among emerging candidates, antimicrobial peptides (AMPs) stand out as versatile molecules capable of exerting direct antimycobacterial effects while also modulating the host immune response. This review explores peptide-based strategies against TB, with a focus on four major axes of innovation. First, we examine host-directed pathways, including the vitamin D–cathelicidin axis and other immunomodulatory mechanisms and their regulatory role in the induction of endogenous AMPs such as cathelicidin LL-37, which contributes to host-directed defense. Second, we discuss peptide-based vaccines designed to elicit robust and durable protective immunity, representing a complementary alternative to classical vaccine approaches. Third, we highlight the synergistic potential of AMPs in combination with first-line and second-line anti-TB drugs, aiming to restore or enhance bactericidal activity against resistant strains. Finally, we analyze technological platforms, including nanocarriers and inhalable formulations, that enable targeted pulmonary delivery, improve peptide stability, and enhance bioavailability. By integrating molecular design, immune modulation, and advanced delivery systems, peptide-based strategies provide a multifaceted approach to overcoming the limitations of current TB therapy. Collectively, these advances position AMPs not only as promising standalone agents but also as key components in combination and host-directed therapies, with strong potential to reshape the future clinical management of tuberculosis. Full article

Three-dimensional printing (3DP) represents a significant innovation in the construction sector, offering substantial benefits in terms of efficiency, customisation, and sustainability. In the context of built heritage rehabilitation, it is capable of accurately reproducing architectural elements, facilitating conservation efforts, while minimising waste and resource consumption. However, in this field, ensuring material compatibility with original structures is essential. This study explores the development and optimisation of lime and cement-based mortars for 3DP applications, focusing on their physical and mechanical performances (on moulded specimens) for use in replicating elements of a renowned Portuguese theatre. Laboratory testing supports the selection of suitable mortar compositions, aiming to balance performance and fidelity to historical construction practices. This research seeks to contribute to explore the potential of 3DP for heritage conservation, promoting innovative, durable, and culturally sensitive restoration strategies. Full article

The Kemp’s ridley sea turtle (Lepidochelys kempii) is the most critically endangered sea turtle species, with a distribution primarily restricted to the Gulf of Mexico. Its occurrence along the Iberian Peninsula is exceedingly rare. This study describes the postmortem findings of a juvenile L. kempii rescued off the Portuguese coast in 2024, which died after 11 days in rehabilitation despite intensive supportive care. Necropsy revealed severe, diffuse pneumonia. Histopathological examination showed interstitial inflammation and branching septate hyphae, while fungal culture and DNA sequencing confirmed the presence of Beauveria bassiana. Mycotic diseases in reptiles are often underrecognised but can lead to significant morbidity and mortality, particularly in immunocompromised or stressed individuals such as stranded marine turtles. This rare occurrence of a L. kempii on the Portuguese coast provides important insights into the species’ dispersal patterns and underlines the potential conservation implications of opportunistic fungal infections in endangered species. Full article

This work presents the development of a functional real-time SLAM system designed to enhance the perception capabilities of an Automated Guided Vehicle (AGV) using only a 2D LiDAR sensor. The proposal aims to address recurring gaps in the literature, such as the need for low-complexity solutions that are independent of auxiliary sensors and capable of operating on embedded platforms with limited computational resources. The system integrates scan alignment techniques based on the Iterative Closest Point (ICP) algorithm. Experimental validation in a controlled environment indicated better performance using Gauss–Newton optimization and the point-to-plane metric, achieving pose estimation accuracy of 99.42%, 99.6%, and 99.99% in the position ($x$, $y$) and orientation ($\theta$) components, respectively. Subsequently, the system was adapted for operation with data from the onboard sensor, integrating a lightweight graphical interface for real-time visualization of scans, estimated pose, and the evolving map. Despite the moderate update rate, the system proved effective for robotic applications, enabling coherent localization and progressive environment mapping. The modular architecture developed allows for future extensions such as trajectory planning and control. The proposed solution provides a robust and adaptable foundation for mobile platforms, with potential applications in industrial automation, academic research, and education in mobile robotics. Full article

Elasmobranch species are considered a global conservation priority due to their susceptibility to fishing pressure. In the Madeira Archipelago, Northeastern Atlantic, most elasmobranch species are caught as bycatch in artisanal drifting longline fishery targeting scabbardfishes. All commercial elasmobranch landings carried out in this archipelago over three decades (1990–2020) were analysed, aiming to provide a reliable overview of Madeira’s elasmobranch fisheries and their evolution. A total of 2316 tonnes of elasmobranchs were landed during the study period, corresponding to approximately EUR 2.1 million in first-sale value. The most representative period occurred from 2003 to 2013, corresponding to 75.21% of the total elasmobranch landings. A general pattern of supply and demand was evident, with mean price values typically showing an inverse trend to landed tonnage. At the species level, Centrophorus squamosus appears as the dominant species, representing about 89% of the total elasmobranch species landed, followed by Prionace glauca, with approximately 3%. The high dominance of C. squamosus in the scabbardfish fishery raises significant ecological and management concerns, as this deep-water shark species is known for its vulnerability to overexploitation. Management measures currently in place need to be updated and ought to be based on studies on the type and size of hooks for each fishery, to ultimately infer about species-specific survival rates, as well as the fishing gears’ soak time. Moreover, studies on the enhancement of food supply through fisheries discards are still missing, even though it is highly likely that this input may alter the dynamics of marine food webs. Full article