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17 pages, 3095 KiB  
Article
Haplotypes, Genotypes, and DNA Methylation Levels of Neuromedin U Gene Are Associated with Cardio-Metabolic Parameters: Results from the Moli-sani Study
by Fabrizia Noro, Annalisa Marotta, Simona Costanzo, Benedetta Izzi, Alessandro Gialluisi, Amalia De Curtis, Antonietta Pepe, Sarah Grossi, Augusto Di Castelnuovo, Chiara Cerletti, Maria Benedetta Donati, Giovanni de Gaetano, Francesco Gianfagna and Licia Iacoviello
Biomedicines 2025, 13(8), 1906; https://doi.org/10.3390/biomedicines13081906 - 5 Aug 2025
Abstract
Background/Objectives: Neuromedin U (NMU) is a highly conserved gene encoding a neuropeptide involved in the regulation of feeding behavior and energy homeostasis. We aimed to analyze the association between NMU genetic and epigenetic variations and cardio-metabolic parameters in an Italian population to identify [...] Read more.
Background/Objectives: Neuromedin U (NMU) is a highly conserved gene encoding a neuropeptide involved in the regulation of feeding behavior and energy homeostasis. We aimed to analyze the association between NMU genetic and epigenetic variations and cardio-metabolic parameters in an Italian population to identify the role of these variants in cardio-metabolic risk. Methods: A total of 4028 subjects were randomly selected from the Moli-sani study cohort. NMU haplotypes were estimated using seven SNPs located in the gene body and in the promoter region; DNA methylation levels in the promoter region, previously associated with lipid-related variables in the same population, were also used. Results: Among the haplotypes inferred, the haplotype carrying the highest number of minor variants (frequency 16.6%), when compared with the most frequent haplotype, was positively associated with insulin levels, HOMA-IR, and diastolic blood pressure, and negatively with HDL-cholesterol. The multivariable analysis that considered methylation levels along with their interactions with SNPs showed that increased methylation levels in two close CpG sites were associated with higher levels of lipid-related variables. Conclusions: This study supports a role for NMU as a regulator of human metabolism. This finding suggests that NMU could be a potential target for preventive interventions against coronary and cerebrovascular diseases, and that NMU genetic and epigenetic variability may serve as a biomarker for cardio-metabolic risk. Full article
(This article belongs to the Special Issue Epigenetics and Metabolic Disorders)
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27 pages, 1013 KiB  
Review
Efficacy of Radiotherapy for Oligometastatic Lung Cancer and Irradiation Methods Based on Metastatic Site
by Katsuyuki Shirai, Masashi Endo, Shuri Aoki, Noriko Kishi, Yukiko Fukuda, Tetsuo Nonaka and Hitoshi Ishikawa
Cancers 2025, 17(15), 2569; https://doi.org/10.3390/cancers17152569 - 4 Aug 2025
Abstract
Systemic chemotherapy is a standard treatment for patients with stage IV cancer with distant metastases, and there is little evidence of the effectiveness of local treatments for distant metastatic lesions. However, in recent years, randomized phase II trials targeting oligometastases in lung cancer [...] Read more.
Systemic chemotherapy is a standard treatment for patients with stage IV cancer with distant metastases, and there is little evidence of the effectiveness of local treatments for distant metastatic lesions. However, in recent years, randomized phase II trials targeting oligometastases in lung cancer and solid tumors have reported that local therapy combined with systemic chemotherapy improves clinical outcomes. We reviewed previous clinical trials and demonstrated the efficacy of radiotherapy for oligometastatic disease. Stereotactic body radiotherapy (SBRT) is a promising treatment that achieves high local control rates for oligometastatic disease. Although SBRT generally does not cause severe adverse events, the safety of SBRT combined with systemic chemotherapy needs to be carefully considered. We discussed the efficacy and safety of SBRT and summarized the details of SBRT methods and techniques for each metastatic site. Further research and clinical trials are warranted to improve the efficacy of SBRT combined with systemic chemotherapy for oligometastatic non-small cell lung cancer (NSCLC). Full article
(This article belongs to the Special Issue The Current Status of Treatment for Oligometastatic Lung Cancer)
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14 pages, 3099 KiB  
Article
Identification of Keystone Plant Species for Avian Foraging and Nesting in Beijing’s Forest Ecosystems: Implications for Urban Forest Bird Conservation
by Lele Lin, Yongjian Zhao, Chao Yuan, Yushu Zhang, Siyu Qiu and Jixin Cao
Animals 2025, 15(15), 2271; https://doi.org/10.3390/ani15152271 - 4 Aug 2025
Abstract
Urban wildlife conservation is emerging as a critical component of sustainable city ecosystems. Rather than simply increasing tree abundance or species richness, conservation management should focus on key species. In this research, Xishan Forest Park in Beijing was chosen as a case study. [...] Read more.
Urban wildlife conservation is emerging as a critical component of sustainable city ecosystems. Rather than simply increasing tree abundance or species richness, conservation management should focus on key species. In this research, Xishan Forest Park in Beijing was chosen as a case study. Our aim was to identify keystone taxa critical for avian foraging and nesting during the breeding season. We performed a network analysis linking bird species, their diets, and nest plants. Dietary components were detected using DNA metabarcoding conducted with avian fecal samples. Nest plants were identified via transect surveys. Two indices of the network, degree and weighted mean degree, were calculated to evaluate the importance of the dietary and nest plant species. We identified 13 bird host species from 107 fecal samples and 14 bird species from 107 nest observations. Based on the degree indices, fruit trees Morus and Prunus were detected as key food sources, exhibiting both the highest degree (degree = 9, 9) and weighted mean degree (lnwMD = 5.21, 4.63). Robinia pseudoacacia provided predominant nesting sites, with a predominant degree of 7. A few taxa, such as Styphnolobium japonicum and Rhamnus parvifolia, served dual ecological significance as both essential food sources and nesting substrates. Scrublands, as a unique habitat type, provided nesting sites and food for small-bodied birds. Therefore, targeted management interventions are recommended to sustain or enhance these keystone resource species and to maintain the multi-layered vertical vegetation structure to preserve the diverse habitats of birds. Full article
(This article belongs to the Section Wildlife)
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19 pages, 18533 KiB  
Article
Modeling of Marine Assembly Logistics for an Offshore Floating Photovoltaic Plant Subject to Weather Dependencies
by Lu-Jan Huang, Simone Mancini and Minne de Jong
J. Mar. Sci. Eng. 2025, 13(8), 1493; https://doi.org/10.3390/jmse13081493 - 2 Aug 2025
Viewed by 96
Abstract
Floating solar technology has gained significant attention as part of the global expansion of renewable energy due to its potential for installation in underutilized water bodies. Several countries, including the Netherlands, have initiated efforts to extend this technology from inland freshwater applications to [...] Read more.
Floating solar technology has gained significant attention as part of the global expansion of renewable energy due to its potential for installation in underutilized water bodies. Several countries, including the Netherlands, have initiated efforts to extend this technology from inland freshwater applications to open offshore environments, particularly within offshore wind farm areas. This development is motivated by the synergistic benefits of increasing site energy density and leveraging the existing offshore grid infrastructure. The deployment of offshore floating photovoltaic (OFPV) systems involves assembling multiple modular units in a marine environment, introducing operational risks that may give rise to safety concerns. To mitigate these risks, weather windows must be considered prior to the task execution to ensure continuity between weather-sensitive activities, which can also lead to additional time delays and increased costs. Consequently, optimizing marine logistics becomes crucial to achieving the cost reductions necessary for making OFPV technology economically viable. This study employs a simulation-based approach to estimate the installation duration of a 5 MWp OFPV plant at a Dutch offshore wind farm site, started in different months and under three distinct risk management scenarios. Based on 20 years of hindcast wave data, the results reveal the impacts of campaign start months and risk management policies on installation duration. Across all the scenarios, the installation duration during the autumn and winter period is 160% longer than the one in the spring and summer period. The average installation durations, based on results from 12 campaign start months, are 70, 80, and 130 days for the three risk management policies analyzed. The result variation highlights the additional time required to mitigate operational risks arising from potential discontinuity between highly interdependent tasks (e.g., offshore platform assembly and mooring). Additionally, it is found that the weather-induced delays are mainly associated with the campaigns of pre-laying anchors and platform and mooring line installation compared with the other campaigns. In conclusion, this study presents a logistics modeling methodology for OFPV systems, demonstrated through a representative case study based on a state-of-the-art truss-type design. The primary contribution lies in providing a framework to quantify the performance of OFPV installation strategies at an early design stage. The findings of this case study further highlight that marine installation logistics are highly sensitive to local marine conditions and the chosen installation strategy, and should be integrated early in the OFPV design process to help reduce the levelized cost of electricity. Full article
(This article belongs to the Special Issue Design, Modeling, and Development of Marine Renewable Energy Devices)
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17 pages, 3731 KiB  
Article
Lake Water Depletion Linkages with Seismic Hazards in Sikkim, India: A Case Study on Chochen Lake
by Anil Kumar Misra, Kuldeep Dutta, Rakesh Kumar Ranjan, Nishchal Wanjari and Subash Dhakal
GeoHazards 2025, 6(3), 42; https://doi.org/10.3390/geohazards6030042 - 1 Aug 2025
Viewed by 101
Abstract
After the 2011 earthquake, lake water depletion has become a widespread issue in Sikkim, especially in regions classified as high to very high seismic zones, where many lakes have turned into seasonal water bodies. This study investigates Chochen Lake in the Barapathing area [...] Read more.
After the 2011 earthquake, lake water depletion has become a widespread issue in Sikkim, especially in regions classified as high to very high seismic zones, where many lakes have turned into seasonal water bodies. This study investigates Chochen Lake in the Barapathing area of Sikkim’s Pakyong district, which is facing severe water seepage and instability. The problem, intensified by the 2011 seismic event and ongoing local construction, is examined through subsurface fracture mapping using Vertical Electrical Sounding (VES) and profiling techniques. A statistical factor method, applied to interpret VES data, helped identify fracture patterns beneath the lake. Results from two sites (VES-1 and VES-2) reveal significant variations in weathered and semi-weathered soil layers, indicating fractures at depths of 17–50 m (VES-1) and 20–55 m (VES-2). Higher fracture density near VES-1 suggests increased settlement risk and ground displacement compared to VES-2. Contrasting resistivity values emphasize the greater instability in this zone and the need for cautious construction practices. The findings highlight the role of seismic-induced fractures in ongoing water depletion and underscore the importance of continuous dewatering to stabilize the swampy terrain. Full article
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20 pages, 2360 KiB  
Article
Enhanced Ammonium Removal from Wastewater Using FAU-Type and BEA-Type Zeolites and Potential Application on Seedling Growth: Towards Closing the Waste-to-Resource Cycle
by Matiara S. C. Amaral, Marcella A. da Silva, Giovanna da S. Cidade, Diêgo N. Faria, Daniel F. Cipriano, Jair C. C. Freitas, Fabiana Soares dos Santos, Mendelssolm K. Pietre and André M. dos Santos
Processes 2025, 13(8), 2426; https://doi.org/10.3390/pr13082426 - 31 Jul 2025
Viewed by 271
Abstract
This work focuses on the effectiveness of removing ammonium from real municipal wastewater using synthetic faujasite (FAU-type) and β (BEA-type) zeolites and a commercial β (BEA-type) sample. The results demonstrated that synthetic samples presented enhanced performance on ammonium removal in comparison with commercial [...] Read more.
This work focuses on the effectiveness of removing ammonium from real municipal wastewater using synthetic faujasite (FAU-type) and β (BEA-type) zeolites and a commercial β (BEA-type) sample. The results demonstrated that synthetic samples presented enhanced performance on ammonium removal in comparison with commercial zeolite due to higher Al content and larger specific surface area, promoting better accessibility to active adsorption sites of the adsorbents. Synthetic FAU-type and BEA-type zeolites achieved a maximum adsorption capacity of 28.87 and 12.62 mg·g−1, respectively, outperforming commercial BEA-type zeolite (6.50 mg·g−1). Adsorption assays, associated with kinetic studies and adsorption isotherms, were better fitted using the pseudo-second order model and the Langmuir model, respectively, suggesting that chemisorption, involving ion exchange, and monolayer formation at the zeolite surface, was the main mechanism involved in the NH4+ adsorption process. After ammonium adsorption, the NH4+-loaded zeolite samples were used to stimulate the growth of tomato seedlings; the results revealed a change in the biomass production for seedlings grown in vitro, especially when the BEA_C_NH4 sample was employed, leading to a 15% increase in the fresh mass in comparison with the control sample. In contrast, the excess of ammonium adsorbed over the BEA_S_NH4 and FAU_NH4 samples probably caused a toxic effect on seedling growth. The elemental analysis results supported the hypothesis that the presence of NH4+-loaded zeolite into the culture medium was important for the release of nitrogen. The obtained results show then that the investigated zeolites are promising both as efficient adsorbents to mitigate the environmental impact of ammonium-contaminated water bodies and as nitrogen-rich fertilizers. Full article
(This article belongs to the Special Issue Novel Applications of Zeolites in Adsorption Processes)
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19 pages, 2733 KiB  
Article
Quantifying Threespine Stickleback Gasterosteus aculeatus L. (Perciformes: Gasterosteidae) Coloration for Population Analysis: Method Development and Validation
by Ekaterina V. Nadtochii, Anna S. Genelt-Yanovskaya, Evgeny A. Genelt-Yanovskiy, Mikhail V. Ivanov and Dmitry L. Lajus
Hydrobiology 2025, 4(3), 20; https://doi.org/10.3390/hydrobiology4030020 - 31 Jul 2025
Viewed by 112
Abstract
Fish coloration plays an important role in reproduction and camouflage, yet capturing color variation under field conditions remains challenging. We present a standardized, semi-automated protocol for measuring body coloration in the popular model fish threespine stickleback (Gasterosteus aculeatus). Individuals are photographed [...] Read more.
Fish coloration plays an important role in reproduction and camouflage, yet capturing color variation under field conditions remains challenging. We present a standardized, semi-automated protocol for measuring body coloration in the popular model fish threespine stickleback (Gasterosteus aculeatus). Individuals are photographed in a controlled light box within minutes of capture, and color is sampled from eight anatomically defined standard sites in human-perception-based CIELAB space. Analyses combine univariate color metrics, multivariate statistics, and the ΔE* perceptual difference index to detect subtle shifts in hue and brightness. Validation on pre-spawning fish shows the method reliably distinguishes males and females well before full breeding colors develop. Although it currently omits ultraviolet signals and fine-scale patterning, the approach scales efficiently to large sample sizes and varying lighting conditions, making it well suited for population-level surveys of camouflage dynamics, sexual dimorphism, and environmental influences on coloration in sticklebacks. Full article
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40 pages, 3045 KiB  
Review
HBIM and Information Management for Knowledge and Conservation of Architectural Heritage: A Review
by Maria Parente, Nazarena Bruno and Federica Ottoni
Heritage 2025, 8(8), 306; https://doi.org/10.3390/heritage8080306 - 30 Jul 2025
Viewed by 141
Abstract
This paper presents a comprehensive review of research on Historic Building Information Modeling (HBIM), focusing on its role as a tool for managing knowledge and supporting conservation practices of Architectural Heritage. While previous review articles and most research works have predominantly addressed geometric [...] Read more.
This paper presents a comprehensive review of research on Historic Building Information Modeling (HBIM), focusing on its role as a tool for managing knowledge and supporting conservation practices of Architectural Heritage. While previous review articles and most research works have predominantly addressed geometric modeling—given its significant challenges in the context of historic buildings—this study places greater emphasis on the integration of non-geometric data within the BIM environment. A systematic search was conducted in the Scopus database to extract the 451 relevant publications analyzed in this review, covering the period from 2008 to mid-2024. A bibliometric analysis was first performed to identify trends in publication types, geographic distribution, research focuses, and software usage. The main body of the review then explores three core themes in the development of the information system: the definition of model entities, both semantic and geometric; the data enrichment phase, incorporating historical, diagnostic, monitoring and conservation-related information; and finally, data use and sharing, including on-site applications and interoperability. For each topic, the review highlights and discusses the principal approaches documented in the literature, critically evaluating the advantages and limitations of different information management methods with respect to the distinctive features of the building under analysis and the specific objectives of the information model. Full article
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13 pages, 777 KiB  
Article
Nomogram Development and Feature Selection Strategy Comparison for Predicting Surgical Site Infection After Lower Extremity Fracture Surgery
by Humam Baki and Atilla Sancar Parmaksızoğlu
Medicina 2025, 61(8), 1378; https://doi.org/10.3390/medicina61081378 - 30 Jul 2025
Viewed by 175
Abstract
Background and Objectives: Surgical site infections (SSIs) are a frequent complication after lower extremity fracture surgery, yet tools for individualized risk prediction remain limited. This study aimed to develop and internally validate a nomogram for individualized SSI risk prediction based on perioperative [...] Read more.
Background and Objectives: Surgical site infections (SSIs) are a frequent complication after lower extremity fracture surgery, yet tools for individualized risk prediction remain limited. This study aimed to develop and internally validate a nomogram for individualized SSI risk prediction based on perioperative clinical parameters. Materials and Methods: This retrospective cohort study included adults who underwent lower extremity fracture surgery between 2022 and 2025 at a tertiary care center. Thirty candidate predictors were evaluated. Feature selection was performed using six strategies, and the final model was developed with logistic regression based on bootstrap inclusion frequency. Model performance was assessed by area under the curve, calibration slope, Brier score, sensitivity, and specificity. Results: Among 638 patients undergoing lower extremity fracture surgery, 76 (11.9%) developed SSIs. Of six feature selection strategies compared, bootstrap inclusion frequency identified seven predictors: red blood cell count, preoperative C-reactive protein, chronic kidney disease, operative time, chronic obstructive pulmonary disease, body mass index, and blood transfusion. The final model demonstrated an AUROC of 0.924 (95% CI, 0.876–0.973), a calibration slope of 1.03, and a Brier score of 0.0602. Sensitivity was 86.2% (95% CI, 69.4–94.5) and specificity was 89.5% (95% CI, 83.8–93.3). Chronic kidney disease (OR, 88.75; 95% CI, 5.51–1428.80) and blood transfusion (OR, 85.07; 95% CI, 11.69–619.09) were the strongest predictors of infection. Conclusions: The developed nomogram demonstrates strong predictive performance and may support personalized SSI risk assessment in patients undergoing lower extremity fracture surgery. Full article
(This article belongs to the Special Issue Evaluation, Management, and Outcomes in Perioperative Medicine)
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12 pages, 402 KiB  
Article
SBRT in the Very Elderly: A Viable Option for Pulmonary Oligometastases?
by Samuel M. Vorbach, Meinhard Nevinny-Stickel, Ute Ganswindt and Thomas Seppi
Cancers 2025, 17(15), 2512; https://doi.org/10.3390/cancers17152512 - 30 Jul 2025
Viewed by 378
Abstract
Background/Objectives: The global population of individuals aged ≥ 80 years is rapidly growing, leading to an increasing incidence of cancer diagnoses in this age group. While stereotactic body radiotherapy (SBRT) has proven effective in treating pulmonary oligometastases, patients over 80 remain underrepresented in [...] Read more.
Background/Objectives: The global population of individuals aged ≥ 80 years is rapidly growing, leading to an increasing incidence of cancer diagnoses in this age group. While stereotactic body radiotherapy (SBRT) has proven effective in treating pulmonary oligometastases, patients over 80 remain underrepresented in clinical analyses. This study aimed to evaluate clinical outcomes and toxicity of SBRT for pulmonary oligometastases in octogenarians. Methods: This retrospective, single-centre analysis included 34 patients aged ≥ 80 years treated with SBRT for histologically confirmed pulmonary oligometastases between 2010 and 2024. Results: A total of 46 pulmonary metastases were treated with curative intent using fractionation schemes of 3 × 15 Gy, 6 × 8 Gy, or 10 × 6 Gy. Median biologically effective dose (BED10) was 112.5 Gy. Follow-up included regular CT imaging and toxicity assessment according to CTCAE. With a median follow-up of 22.6 months, 1-, 2-, and 3-year local control (LC) rates were 95.2%, 95.2%, and 90.2%, respectively. Median overall survival (OS) was 46.6 months, with 1-, 2-, and 3-year OS rates of 78.4%, 71.4%, and 59.5%. Progression-free survival (PFS) at 1, 2, and 3 years was 63.4%, 51.6%, and 47.3%, respectively. No grade ≥ 3 toxicities were observed. Grade 2 pneumonitis and dermatitis occurred in 2.9% each and were well managed. Asymptomatic rib fractures were detected in 5.9% of patients. No significant predictors for LC, PFS, or OS were identified in univariate analysis. Conclusions: SBRT for pulmonary oligometastases in patients ≥ 80 years is feasible, safe, and effective. High local control, favourable cancer-specific survival, and minimal toxicity support its use as a curative-intent treatment in this growing patient population. These findings contribute important site- and age-specific evidence and support the inclusion of very elderly patients in future prospective SBRT trials. Full article
(This article belongs to the Special Issue Treatment Outcomes in Older Adults with Cancer)
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14 pages, 252 KiB  
Article
Midlife Vulnerability and Food Insecurity in Women: Increased Risk of Mental Health Concerns
by Lisa Smith Kilpela, Taylur Loera, Sabrina E. Cuauro and Carolyn Black Becker
Nutrients 2025, 17(15), 2486; https://doi.org/10.3390/nu17152486 - 30 Jul 2025
Viewed by 233
Abstract
Background/Objectives: A growing body of literature has demonstrated that living with food insecurity (FI) increases risk for mental health concerns in addition to nutritional deficits (e.g., suboptimal micronutrient consumption, excessive macronutrient consumption, malnutrition). Yet, research is needed to improve our understanding of subpopulations [...] Read more.
Background/Objectives: A growing body of literature has demonstrated that living with food insecurity (FI) increases risk for mental health concerns in addition to nutritional deficits (e.g., suboptimal micronutrient consumption, excessive macronutrient consumption, malnutrition). Yet, research is needed to improve our understanding of subpopulations potentially at increased risk for mental health concerns when living in the context of FI. The current study examined psychosocial health across women of different developmental life stages all living with FI. Methods: Female clients of a large, urban food bank (N = 680) living with FI completed measures of mental health and health-related quality of life (HRQOL) in a cross-sectional design conducted on site at the food bank. Results: Consistent with past research, FI severity was correlated with poorer psychosocial health across all variables. A multivariate analysis of covariance compared women living with FI across 4 developmental life stages (young adult, early midlife, late midlife, and older adult; age range = 18–94 years), controlling for FI severity and race/ethnicity, on outcomes related to mental health and HRQOL. Women in early and late midlife reported higher anxiety, eating disorder symptoms, and eating-related psychosocial impairment than younger and older women. Conclusions: The mental health toll of living with FI is profound; midlife may comprise a developmental period of increased vulnerability to experience this mental health burden of living with FI for women. Thus, efforts are needed to develop innovative pathways for interventions to support the mental health of midlife women living with FI, likely involving multi-level and/or multicomponent approaches to resource access. Full article
10 pages, 1920 KiB  
Case Report
Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion
by Matteo Iacoviello, Marilidia Piglionica, Ornella Tabaku, Antonella Garganese, Aurora De Marco, Fabio Cardinale, Domenico Bonamonte and Nicoletta Resta
Int. J. Mol. Sci. 2025, 26(15), 7343; https://doi.org/10.3390/ijms26157343 - 29 Jul 2025
Viewed by 275
Abstract
Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the [...] Read more.
Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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16 pages, 1285 KiB  
Article
The Physiological Cost of Being Hot: High Thermal Stress and Disturbance Decrease Energy Reserves in Dragonflies in the Wild
by Eduardo Ulises Castillo-Pérez, Angélica S. Ensaldo-Cárdenas, Catalina M. Suárez-Tovar, José D. Rivera-Duarte, Daniel González-Tokman and Alex Córdoba-Aguilar
Biology 2025, 14(8), 956; https://doi.org/10.3390/biology14080956 - 29 Jul 2025
Viewed by 185
Abstract
Anthropogenic disturbance alters macro- and microclimatic conditions, often increasing ambient temperatures. These changes can strongly affect insects, particularly those experiencing high thermal stress (i.e., large differences between body and environmental temperature), as prolonged exposure to elevated temperatures can reduce their energetic reserves due [...] Read more.
Anthropogenic disturbance alters macro- and microclimatic conditions, often increasing ambient temperatures. These changes can strongly affect insects, particularly those experiencing high thermal stress (i.e., large differences between body and environmental temperature), as prolonged exposure to elevated temperatures can reduce their energetic reserves due to increased metabolic demands and physiological stress. We evaluated thermal stress in 16 insect dragonfly species during two sampling periods (2019 and 2022) in preserved and disturbed sites within a tropical dry forest in western Mexico. Also, we compared energetic condition (lipid and protein content) and thoracic mass for the seven most abundant species between both habitat types. In preserved sites, insects showed higher thermal stress at lower maximum temperatures, which decreased as temperatures increased. Dragonflies in disturbed sites maintained consistent levels of thermal stress across the temperature gradient. Thermal stress was linked to lower lipid and protein content, and individuals from disturbed sites had reduced energy reserves. We also found a weak but consistent positive relationship between mean ambient temperature and protein content. In preserved sites, thoracic mass increased with thermal stress, but only at high mean temperatures. These findings suggest that although species can persist in disturbed environments, their energetic condition may be compromised, potentially affecting their performance and fitness. Preserving suitable habitats is essential for preserving both biodiversity and ecological function. Full article
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24 pages, 6108 KiB  
Review
Angiogenic Cell Precursors and Neural Cell Precursors in Service to the Brain–Computer Interface
by Fraser C. Henderson and Kelly Tuchman
Cells 2025, 14(15), 1163; https://doi.org/10.3390/cells14151163 - 29 Jul 2025
Viewed by 456
Abstract
The application of artificial intelligence through the brain–computer interface (BCI) is proving to be one of the great advances in neuroscience today. The development of surface electrodes over the cortex and very fine electrodes that can be stereotactically implanted in the brain have [...] Read more.
The application of artificial intelligence through the brain–computer interface (BCI) is proving to be one of the great advances in neuroscience today. The development of surface electrodes over the cortex and very fine electrodes that can be stereotactically implanted in the brain have moved the science forward to the extent that paralyzed people can play chess and blind people can read letters. However, the introduction of foreign bodies into deeper parts of the central nervous system results in foreign body reaction, scarring, apoptosis, and decreased signaling. Implanted electrodes activate microglia, causing the release of inflammatory factors, the recruitment of systemic inflammatory cells to the site of injury, and ultimately glial scarring and the encapsulation of the electrode. Recordings historically fail between 6 months and 1 year; the longest BCI in use has been 7 years. This article proposes a biomolecular strategy provided by angiogenic cell precursors (ACPs) and nerve cell precursors (NCPs), administered intrathecally. This combination of cells is anticipated to sustain and promote learning across the BCI. Together, through the downstream activation of neurotrophic factors, they may exert a salutary immunomodulatory suppression of inflammation, anti-apoptosis, homeostasis, angiogenesis, differentiation, synaptogenesis, neuritogenesis, and learning-associated plasticity. Full article
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12 pages, 480 KiB  
Brief Report
Treated but Uncontrolled: Characterizing Hypertension in a Sample of 357 Older Adults in the Southeastern United States
by Rachel Helms, Laura A. Robinson, Paul S. Fiore, Kelly P. Strickland, Sarah O. Watts, Felicia J. Tuggle, Jennifer L. Slay, Jeanna Sewell and Andrew D. Frugé
Geriatrics 2025, 10(4), 101; https://doi.org/10.3390/geriatrics10040101 - 26 Jul 2025
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Abstract
Background/Objectives: Hypertension (HTN) continues to be a leading cause of death and disability in older adults, especially in the southeastern United States. A cross-sectional study was conducted to evaluate the relationships among measured, diagnosed, and treated (HTN) in community-dwelling adults participating in [...] Read more.
Background/Objectives: Hypertension (HTN) continues to be a leading cause of death and disability in older adults, especially in the southeastern United States. A cross-sectional study was conducted to evaluate the relationships among measured, diagnosed, and treated (HTN) in community-dwelling adults participating in student-led health screenings in eastern Alabama. Methods: Between 2017 and 2019, students from health-related disciplines facilitated screenings at 23 community and independent living sites to conduct health assessments, including measuring blood pressure (BP), obtaining medical history, and evaluating current prescriptions. Statistical analyses including chi-square tests, t-tests, and backward stepwise linear regression were performed. Results: The current sample includes data from 357 adults aged 60 to 99 years (mean age 74.6 ± 8.7), who were 70.9% females, 60.8% identifying as Black/African American (BA), and 36.8% residing in rural areas. The majority of clients had a prior HTN diagnosis (71.1%) and/or currently measured HTN (78.7%). Forty-three percent of adults screened had measured, diagnosed, and pharmaceutically treated HTN, while 31% had measured but untreated HTN. Black clients had higher measured systolic and diastolic BP and were more likely to also have been diagnosed with HTN (p < 0.05 for all). Linear regression indicated that lower systolic BP was predicted by not living alone (p = 0.003), White race (p = 0.004), and previous HTN diagnosis (p = 0.012), while female gender (p = 0.079) and decreasing body mass index (p = 0.053) had marginal predictive value. Conclusions: These results indicate that awareness and screening of HTN in this population are noteworthy, though management of the disease through ongoing screening and referrals is essential to reduce disparities. Full article
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