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13 pages, 680 KiB  
Article
Anthropometric Characteristics and Somatotype of Young Slovenian Tennis Players
by Ales Germic, Tjasa Filipcic and Ales Filipcic
Appl. Sci. 2025, 15(15), 8584; https://doi.org/10.3390/app15158584 (registering DOI) - 1 Aug 2025
Abstract
Tennis is a demanding sport that requires physical abilities and optimal body composition. The aim of this study was to investigate the anthropometric characteristics, body composition, and somatotype development of young Slovenian tennis players (754 boys and 514 girls aged 12 to 18 [...] Read more.
Tennis is a demanding sport that requires physical abilities and optimal body composition. The aim of this study was to investigate the anthropometric characteristics, body composition, and somatotype development of young Slovenian tennis players (754 boys and 514 girls aged 12 to 18 years) over the last two decades. Using standardised anthropometric measurements and the Heath-Carter method, somatotypes were calculated and analysed by age and gender. The results showed clear age- and gender-specific trends and differences in both somatotype profiles and detailed anthropometric characteristics. Significant differences were found in height, body mass, BMI, skinfolds, girths, and limb lengths, with gender differences becoming more pronounced in the older age groups. In boys, mesomorphy increased with age, reflecting an increase in musculature, while in girls, a shift from ectomorphic to endomorphic profiles was observed during adolescence, probably influenced by pubertal and hormonal changes. Significant sex-specific differences were observed in all three somatotype components in most age groups, especially in fat mass and muscle. The longitudinal design provides valuable data and insights into the evolving physical profiles of adolescent tennis players that support more effective talent identification and training. Despite the changes that have taken place in tennis over time, standardised measurement protocols ensured comparability, making the results relevant for practitioners working with adolescents in tennis development. Full article
(This article belongs to the Special Issue Human Performance and Health in Sport and Exercise—2nd Edition)
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18 pages, 941 KiB  
Article
Effects of a 16-Week Green Exercise Program on Body Composition, Sleep, and Nature Connection in Postmenopausal Women
by Helena Moreira, Chiara Tuccella, Emília Alves, Andreia Teixeira, Carlos Moreira, Irene Oliveira, Valerio Bonavolontà and Catarina Abrantes
Int. J. Environ. Res. Public Health 2025, 22(8), 1216; https://doi.org/10.3390/ijerph22081216 (registering DOI) - 1 Aug 2025
Abstract
Physical activity, particularly when practiced in natural settings, has well-established benefits for overall health, sleep, and body composition. These effects are especially important for postmenopausal women, although research specifically targeting this population remains limited. The study evaluated a 16-week multicomponent outdoor exercise program [...] Read more.
Physical activity, particularly when practiced in natural settings, has well-established benefits for overall health, sleep, and body composition. These effects are especially important for postmenopausal women, although research specifically targeting this population remains limited. The study evaluated a 16-week multicomponent outdoor exercise program (cardiorespiratory, strength, balance, coordination, and flexibility training) in postmenopausal women, consisting of three 60 min sessions per week. Participants were non-randomly assigned to an experimental group (EG, n = 55) and a control group (CG, n = 20). Measurements were taken at baseline and after 16 weeks, including body composition, sleep (duration and quality), and connection with nature. No significant differences were observed between groups at baseline. After the intervention, the EG and CG presented significant differences (p ≤ 0.01) in the rates of change in body mass, fat mass (FM; −9.26% and −1.21%, respectively), and visceral fat level (VFL; −13.46 points and −3.80 points). These differences were also observed for the sleep fragmentation index (p ≤ 0.01), but not for connection with nature. A significant interaction effect (p < 0.01) of time × group was observed for %FM, VFL, and appendicular skeletal muscle mass. Exercise duration had an effect (p = 0.043) on participants’ personal and affective identification with nature, and the time × group × medication interaction significantly influenced sleep efficiency (p = 0.034). The exercise program proved effective in reducing total and central adiposity levels; however, it did not lead to improvements in sleep duration, sleep quality, or connection with nature. Full article
22 pages, 3579 KiB  
Article
Genetic Variability and Trait Correlations in Lotus corniculatus L. as a Basis for Sustainable Forage Breeding
by Cristian Bostan, Nicolae Marinel Horablaga, Marius Boldea, Emilian Onișan, Christianna Istrate-Schiller, Dorin Rechitean, Luminita Cojocariu, Alina Laura Agapie, Adina Horablaga, Ioan Sarac, Sorina Popescu, Petru Rain and Ionel Samfira
Sustainability 2025, 17(15), 7007; https://doi.org/10.3390/su17157007 (registering DOI) - 1 Aug 2025
Abstract
Lotus corniculatus L. is a valuable fodder legume, recognized for its ecological adaptability and high potential for production and fodder quality. In this study, 18 genotypes collected from wild flora were analyzed to highlight genetic variability and facilitate the selection of genotypes with [...] Read more.
Lotus corniculatus L. is a valuable fodder legume, recognized for its ecological adaptability and high potential for production and fodder quality. In this study, 18 genotypes collected from wild flora were analyzed to highlight genetic variability and facilitate the selection of genotypes with superior potential. The collection area was in the western part of Romania and featured a diverse topography, including parts of the Banat Plain, the Banat Hills, and the Southern and Western Carpathians. The genotypes selected from the wild flora were cultivated and evaluated for morpho-productive and forage quality traits, including pod weight, average number of seeds/pods, green mass production, and protein percentage. PCA highlighted the main components explaining the variability, and K-means clustering allowed for the identification of groups of genotypes with similar performances. ANOVA showed statistically significant differences (p < 0.001) for all traits analyzed. According to the results, genotypes LV-LC-3, LV-LC-4, LV-LC-6, and LV-LC-16 showed high productive potential and were highlighted as the most valuable for advancing in the breeding program. The moderate relationships between traits confirm the importance of integrated selection. The identified genetic variability and selected genotypes support the implementation of effective breeding strategies to obtain high-performance Lotus corniculatus L., adapted to local soil and climate conditions and with a superior forage yield. Full article
(This article belongs to the Section Sustainable Agriculture)
13 pages, 688 KiB  
Article
Metabolomic Patterns at Birth of Preterm Newborns with Extrauterine Growth Restriction: Towards Putative Markers of Nutritional Status
by Marta Meneghelli, Giovanna Verlato, Matteo Stocchero, Anna Righetto, Elena Priante, Lorenzo Zanetto, Paola Pirillo, Giuseppe Giordano and Eugenio Baraldi
Metabolites 2025, 15(8), 518; https://doi.org/10.3390/metabo15080518 (registering DOI) - 1 Aug 2025
Abstract
Background: Nutrition is of paramount importance during early development, since suboptimal growth in this period of life is linked to adverse long- and mid-term outcomes. This is particularly relevant for preterm infants, who fail to thrive during the first weeks of life and [...] Read more.
Background: Nutrition is of paramount importance during early development, since suboptimal growth in this period of life is linked to adverse long- and mid-term outcomes. This is particularly relevant for preterm infants, who fail to thrive during the first weeks of life and develop extrauterine growth restriction (EUGR). This group of premature babies represents an interesting population to investigate using a metabolomic approach to optimize nutritional intake. Aims: To analyse and compare the urinary metabolomic pattern at birth of preterm infants with and without growth restriction at 36 weeks of postmenstrual age or at discharge, searching for putative markers of growth failure. Methods: We enrolled preterm infants between 23 and 32 weeks of gestational age (GA) and/or with a birth weight <1500 g, admitted to the Neonatal Intensive Care Unit (NICU) at the Department of Women’s and Children’s Health of Padova University Hospital. We collected urinary samples within 48 h of life and performed untargeted metabolomic analysis using mass spectrometry. Results: Sixteen EUGR infants were matched with sixteen non-EUGR controls. The EUGR group showed lower levels of L-cystathionine, kynurenic acid, L-carnosine, N-acetylglutamine, xanthurenic acid, aspartylglucosamine, DL5-hydroxylysine-hydrocloride, homocitrulline, and L-aminoadipic acid, suggesting a lower anti-inflammatory and antioxidant status with respect to the non-EUGR group. Conclusions: Metabolomic analysis suggests a basal predisposition to growth restriction, the identification of which could be useful for tailoring nutritional approaches. Full article
(This article belongs to the Special Issue Metabolomics-Based Biomarkers for Nutrition and Health)
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14 pages, 939 KiB  
Review
Revisiting Male Fertility in Livestock: The Case of Bull Sperm RNA
by Rene A. Ramírez-Sosa, Francisco J. Jahuey-Martínez, Monserrath Felix-Portillo and José A. Martínez-Quintana
Biology 2025, 14(8), 969; https://doi.org/10.3390/biology14080969 (registering DOI) - 1 Aug 2025
Abstract
To achieve the goals of productivity and sustainability across diverse livestock systems, reproductive factors play a pivotal role. Historically, reproductive research has primarily focused on females, as they are responsible for maintaining pregnancy and delivering offspring following oocyte fertilization. However, since the early [...] Read more.
To achieve the goals of productivity and sustainability across diverse livestock systems, reproductive factors play a pivotal role. Historically, reproductive research has primarily focused on females, as they are responsible for maintaining pregnancy and delivering offspring following oocyte fertilization. However, since the early 2000s, the biological significance of sperm RNAs has been increasingly recognized in various livestock species. These RNAs contribute both genetically and epigenetically at the time of fertilization and during early embryonic development. Multiple types of sperm RNA have been identified in bovine, porcine, ovine, buffalo, and caprine spermatozoa. Notably, transcriptomic profiling has shown potential to differentiate between high- and low-fertility males, even when conventional semen quality values appear normal in both groups. This opens the possibility for more accurate identification of highly fertile sires. Nevertheless, a definitive marker or set of markers has yet to be established, likely due to the transcriptome’s sensitivity to environmental conditions and to the variability in evaluation methodologies. Therefore, global scientific efforts should aim to establish standardized, robust protocols, as sperm RNA represents a promising avenue for enhancing the sustainability of animal production systems. Full article
(This article belongs to the Special Issue The Biology of Animal Reproduction)
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18 pages, 5440 KiB  
Article
An Improved Shuffled Frog Leaping Algorithm for Electrical Resistivity Tomography Inversion
by Fuyu Jiang, Likun Gao, Run Han, Minghui Dai, Haijun Chen, Jiong Ni, Yao Lei, Xiaoyu Xu and Sheng Zhang
Appl. Sci. 2025, 15(15), 8527; https://doi.org/10.3390/app15158527 (registering DOI) - 31 Jul 2025
Abstract
In order to improve the inversion accuracy of electrical resistivity tomography (ERT) and overcome the limitations of traditional linear methods, this paper proposes an improved shuffled frog leaping algorithm (SFLA). First, an equilibrium grouping strategy is designed to balance the contribution weight of [...] Read more.
In order to improve the inversion accuracy of electrical resistivity tomography (ERT) and overcome the limitations of traditional linear methods, this paper proposes an improved shuffled frog leaping algorithm (SFLA). First, an equilibrium grouping strategy is designed to balance the contribution weight of each subgroup to the global optimal solution, suppressing the local optimum traps caused by the dominance of high-quality groups. Second, an adaptive movement operator is constructed to dynamically regulate the step size of the search, enhancing the guiding effect of the optimal solution. In synthetic data tests of three typical electrical models, including a high-resistivity anomaly with 5% random noise, a normal fault, and a reverse fault, the improved algorithm shows an approximately 2.3 times higher accuracy in boundary identification of the anomaly body compared to the least squares (LS) method and standard SFLA. Additionally, the root mean square error is reduced by 57%. In the engineering validation at the Baota Mountain mining area in Jurong, the improved SFLA inversion clearly reveals the undulating bedrock morphology. At a measuring point 55 m along the profile, the bedrock depth is 14.05 m (ZK3 verification value 12.0 m, error 17%), and at 96 m, the depth is 6.9 m (ZK2 verification value 6.7 m, error 3.0%). The characteristic of deeper bedrock to the south and shallower to the north is highly consistent with the terrain and drilling data (RMSE = 1.053). This algorithm provides reliable technical support for precise detection of complex geological structures using ERT. Full article
(This article belongs to the Section Earth Sciences)
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18 pages, 778 KiB  
Article
The Effects of Handedness Consistency on the Identification of Own- and Cross-Race Faces
by Raymond P. Voss, Ryan Corser, Stephen Prunier and John D. Jasper
Brain Sci. 2025, 15(8), 828; https://doi.org/10.3390/brainsci15080828 (registering DOI) - 31 Jul 2025
Abstract
Background/Objectives: People are better at recognizing the faces of racial in-group members than out-group members. This own-race bias relies on pattern recognition and memory processes, which rely on hemispheric specialization. We hypothesized that handedness, a proxy for hemispheric specialization, would moderate own-race [...] Read more.
Background/Objectives: People are better at recognizing the faces of racial in-group members than out-group members. This own-race bias relies on pattern recognition and memory processes, which rely on hemispheric specialization. We hypothesized that handedness, a proxy for hemispheric specialization, would moderate own-race bias. Specifically, consistently handed individuals perform better on tasks that require the hemispheres to work independently, while inconsistently handed individuals perform better on tasks that require integration. This led to the hypothesis that inconsistently handed individuals would show less own-race bias, driven by an increase in accuracy. Methods: 281 participants completed the study in exchange for course credit. Of those, the sample was isolated to Caucasian (174) and African American individuals (41). Participants were shown two target faces (one Caucasian and one African American), given several distractor tasks, and then asked to identify the target faces during two sequential line-ups, each terminating when participants made an identification judgment. Results: Continuous handedness score and the match between participant race and target face race were entered into a binary logistic regression predicting correct/incorrect identifications. The overall model was statistically significant, Χ2 (3, N = 430) = 11.036, p = 0.012, Nagelkerke R2 = 0.038, culminating in 76% correct classifications. Analyses of the parameter estimates showed that the racial match, b = 0.53, SE = 0.23, Wald Χ2 (1) = 5.217, p = 0.022, OR = 1.703 and the interaction between handedness and the racial match, b = 0.51, SE = 0.23, Wald test = 4.813, p = 0.028, OR = 1.671 significantly contributed to the model. The model indicated that the probability of identification was similar for own- or cross-race targets amongst inconsistently handed individuals. Consistently handed individuals, by contrast, showed an increase in accuracy for the own-race target and a decrease in accuracy for cross-race targets. Conclusions: Results partially supported the hypotheses. Inconsistently handed individuals did show less own-race bias. This finding, however, seemed to be driven by differences in accuracy amongst consistently handed individuals rather than a hypothesized increase in accuracy amongst inconsistently handed individuals. Underlying hemispheric specialization, as measured by proxy with handedness, may impact the own-race bias in facial recognition. Future research is required to investigate the mechanisms, however, as the directional differences were different than hypothesized. Full article
(This article belongs to the Special Issue Advances in Face Perception and How Disorders Affect Face Perception)
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14 pages, 3364 KiB  
Article
Microbial Load and Diversity of Bacteria in Wild Animal Carcasses Sold as Bushmeat in Ghana
by Daniel Oduro, Winnifred Offih-Kyei, Joanita Asirifi Yeboah, Rhoda Yeboah, Caleb Danso-Coffie, Emmanuel Boafo, Vida Yirenkyiwaa Adjei, Isaac Frimpong Aboagye and Gloria Ivy Mensah
Pathogens 2025, 14(8), 754; https://doi.org/10.3390/pathogens14080754 (registering DOI) - 31 Jul 2025
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Abstract
The demand for wild animal meat, popularly called “bushmeat”, serves as a driving force behind the emergence of infectious diseases, potentially transmitting a variety of pathogenic bacteria to humans through handling and consumption. This study investigated the microbial load and bacterial diversity in [...] Read more.
The demand for wild animal meat, popularly called “bushmeat”, serves as a driving force behind the emergence of infectious diseases, potentially transmitting a variety of pathogenic bacteria to humans through handling and consumption. This study investigated the microbial load and bacterial diversity in bushmeat sourced from a prominent bushmeat market in Kumasi, Ghana. Carcasses of 61 wild animals, including rodents (44), antelopes (14), and African civets (3), were sampled for microbiological analysis. These samples encompassed meat, intestines, and anal and oral swabs. The total aerobic bacteria plate count (TPC), Enterobacteriaceae count (EBC), and fungal counts were determined. Bacterial identification was conducted using MALDI-TOF biotyping. Fungal counts were the highest across all animal groups, with African civets having 11.8 ± 0.3 log10 CFU/g and 11.9 ± 0.2 log10 CFU/g in intestinal and meat samples, respectively. The highest total plate count (TPC) was observed in rodents, both in their intestines (10.9 ± 1.0 log10 CFU/g) and meat (10.9 ± 1.9 log10 CFU/g). In contrast, antelopes exhibited the lowest counts across all categories, particularly in EBC from intestinal samples (6.1 ± 1.5 log10 CFU/g) and meat samples (5.6 ± 1.2 log10 CFU/g). A comprehensive analysis yielded 524 bacterial isolates belonging to 20 genera, with Escherichia coli (18.1%) and Klebsiella spp. (15.5%) representing the most prevalent species. Notably, the detection of substantial microbial contamination in bushmeat underscores the imperative for a holistic One Health approach to enhance product quality and mitigate risks associated with its handling and consumption. Full article
(This article belongs to the Section Bacterial Pathogens)
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18 pages, 1777 KiB  
Article
Machine Learning in Sensory Analysis of Mead—A Case Study: Ensembles of Classifiers
by Krzysztof Przybył, Daria Cicha-Wojciechowicz, Natalia Drabińska and Małgorzata Anna Majcher
Molecules 2025, 30(15), 3199; https://doi.org/10.3390/molecules30153199 - 30 Jul 2025
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Abstract
The aim was to explore using machine learning (including cluster mapping and k-means methods) to classify types of mead based on sensory analysis and aromatic compounds. Machine learning is a modern tool that helps with detailed analysis, especially because verifying aromatic compounds is [...] Read more.
The aim was to explore using machine learning (including cluster mapping and k-means methods) to classify types of mead based on sensory analysis and aromatic compounds. Machine learning is a modern tool that helps with detailed analysis, especially because verifying aromatic compounds is challenging. In the first stage, a cluster map analysis was conducted, allowing for the exploratory identification of the most characteristic features of mead. Based on this, k-means clustering was performed to evaluate how well the identified sensory features align with logically consistent groups of observations. In the next stage, experiments were carried out to classify the type of mead using algorithms such as Random Forest (RF), adaptive boosting (AdaBoost), Bootstrap aggregation (Bagging), K-Nearest Neighbors (KNN), and Decision Tree (DT). The analysis revealed that the RF and KNN algorithms were the most effective in classifying mead based on sensory characteristics, achieving the highest accuracy. In contrast, the AdaBoost algorithm consistently produced the lowest accuracy results. However, the Decision Tree algorithm achieved the highest accuracy value (0.909), demonstrating its potential for precise classification based on aroma characteristics. The error matrix analysis also indicated that acacia mead was easier for the algorithms to identify than tilia or buckwheat mead. The results show the potential of combining an exploratory approach (cluster map with the k-means method) with machine learning. It is also important to focus on selecting and optimizing classification models used in practice because, as the results so far indicate, choosing the right algorithm greatly affects the success of mead identification. Full article
(This article belongs to the Special Issue Analytical Technologies and Intelligent Applications in Future Food)
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16 pages, 686 KiB  
Article
Age- and Sex-Specific Reference Values for Handgrip Strength Among Healthy Tunisian Adolescents
by Souhail Bchini, Ismail Dergaa, Dhouha Moussaoui, Halil İbrahim Ceylan, Taoufik Selmi, Raul Ioan Muntean and Nadhir Hammami
Medicina 2025, 61(8), 1383; https://doi.org/10.3390/medicina61081383 - 30 Jul 2025
Viewed by 194
Abstract
Background and Objectives: Handgrip strength represents a critical indicator of physical fitness and nutritional status in adolescents, yet population-specific reference values remain limited in developing countries. Understanding age- and sex-specific variations is crucial for accurate clinical assessment and effective health monitoring. The objective [...] Read more.
Background and Objectives: Handgrip strength represents a critical indicator of physical fitness and nutritional status in adolescents, yet population-specific reference values remain limited in developing countries. Understanding age- and sex-specific variations is crucial for accurate clinical assessment and effective health monitoring. The objective of this study was to establish comprehensive reference values for handgrip strength in healthy Tunisian adolescents aged 13–19 years and examine sex and age group differences in these measures. Materials and Methods: This cross-sectional study was conducted between September 2024 and June 2025, involving a sample of 950 participants (482 males, 468 females) aged 13–19 years from northwest Tunisia. Handgrip strength was measured using standardized dynamometry protocols for both hands. Anthropometric measurements included height, weight, and body mass index. Percentile curves were generated using the LMS method, and correlations between handgrip strength and anthropometric variables were analyzed using Pearson correlation coefficients. Results: Males demonstrated significantly higher handgrip strength than females from age 13 onward (13 years: p = 0.021; 14–19 years: p ≤ 0.001). Effect sizes for sex differences were consistently large across age groups (Cohen’s d range: 0.53–2.09 for the dominant hand). Mean dominant handgrip strength ranged from 25.60 ± 7.73 kg to 47.60 ± 12.45 kg in males and 21.90 ± 6.13 kg to 28.40 ± 4.74 kg in females across age groups. After adjusting for body mass, sex differences remained significant between groups (13 years: p = 0.014; d= 1.5; 14–19 years: p ≤ 0.001; d: 1.71–3.12). Strong positive correlations emerged between handgrip strength and height (males: r = 0.748, females: r = 0.601), body mass (males: r = 0.659, females: r = 0.601), and body mass index (BMI) (males: r = 0.391, females: r = 0.461). Body mass and height emerged as the strongest predictors of handgrip strength in both sexes, while BMI showed a smaller but still significant contribution. Conclusions: This study provides the first comprehensive age- and sex-specific reference values for handgrip strength in Tunisian adolescents. Healthcare providers can utilize these percentile charts for the clinical assessment and identification of musculoskeletal fitness deficits. The results suggest its use in educational and clinical contexts. Full article
(This article belongs to the Section Sports Medicine and Sports Traumatology)
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28 pages, 3082 KiB  
Article
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders
by Elena Urizar, Eamon P. McCarron, Chaitanya Gadepalli, Andrew Bentley, Peter Woolfson, Siying Lin, Christos Iosifidis, Andrew C. Browning, John Bassett, Udara D. Senarathne, Neluwa-Liyanage R. Indika, Heather J. Church, James A. Cooper, Jorge Menendez Lorenzo, Maria Elena Farrugia, Simon A. Jones, Graeme C. Black and Karolina M. Stepien
Genes 2025, 16(8), 915; https://doi.org/10.3390/genes16080915 (registering DOI) - 30 Jul 2025
Viewed by 337
Abstract
Background: Lysosomal storage diseases (LSDs) are a genetically and clinically heterogeneous group of inborn errors of metabolism caused by variants in genes encoding lysosomal hydrolases, membrane proteins, activator proteins, or transporters. These disease-causing variants lead to enzymatic deficiencies and the progressive accumulation of [...] Read more.
Background: Lysosomal storage diseases (LSDs) are a genetically and clinically heterogeneous group of inborn errors of metabolism caused by variants in genes encoding lysosomal hydrolases, membrane proteins, activator proteins, or transporters. These disease-causing variants lead to enzymatic deficiencies and the progressive accumulation of undegraded substrates within lysosomes, disrupting cellular function across multiple organ systems. While classical phenotypes typically manifest in infancy or early childhood with severe multisystem involvement, a combination of advances in molecular diagnostics [particularly next-generation sequencing (NGS)] and improved understanding of disease heterogeneity have enabled the identification of attenuated forms characterised by residual enzyme activity and later-onset presentations. These milder phenotypes often evade early recognition due to nonspecific or isolated symptoms, resulting in significant diagnostic delays and missed therapeutic opportunities. Objectives/Methods: This study characterises the clinical, biochemical, and molecular profiles of 10 adult patients diagnosed with LSDs, all representing attenuated forms, and discusses them alongside a narrative review. Results: Enzyme activity, molecular data, and phenotypic assessments are described to explore genotype–phenotype correlations and identify diagnostic challenges. Conclusions: These findings highlight the variable expressivity and organ involvement of attenuated LSDs and reinforce the importance of maintaining clinical suspicion in adults presenting with unexplained cardiovascular, neurological, ophthalmological, or musculoskeletal findings. Enhanced recognition of atypical presentations is critical to facilitate earlier diagnosis, guide management, and enable cascade testing for at-risk family members. Full article
(This article belongs to the Special Issue Molecular Basis and Genetics of Intellectual Disability)
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14 pages, 882 KiB  
Article
Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow
by Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, François Boemer, Clément Prouteau, Samir Mesli, Matthias Cuykx, Thao Nguyen-Khoa, David Guénet, Aurélie Empain, Magalie Barth, Benjamin Dauriat, Cécile Laroche-Raynaud, Corinne De Laet, Patrick Verloo, An I. Jonckheere, Manuel Schiff, Marie-Cécile Nassogne and Joseph P. Dewulfadd Show full author list remove Hide full author list
Int. J. Neonatal Screen. 2025, 11(3), 59; https://doi.org/10.3390/ijns11030059 - 30 Jul 2025
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Abstract
Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipate semialdehyde (α-AASA) dehydrogenase, a key enzyme in lysine catabolism. Affected individuals present with [...] Read more.
Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipate semialdehyde (α-AASA) dehydrogenase, a key enzyme in lysine catabolism. Affected individuals present with seizures unresponsive to conventional anticonvulsant medications but responsive to high-dose of pyridoxine (vitamin B6). Adjunctive lysine restriction and arginine supplementation have also shown potential in improving neurodevelopmental outcomes. Given the significant benefit of early intervention, PDE-ALDH7A1 is a strong candidate for newborn screening (NBS). However, traditional biomarkers are biochemically unstable at room temperature (α-AASA and piperideine-6-carboxylate) or lack sufficient specificity (pipecolate), limiting their utility for biomarker-based NBS. The recent identification of two novel and stable biomarkers, 2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylate (2-OPP) and 6-oxo-pipecolate (oxo-PIP), offers renewed potential for biochemical NBS. We evaluated the feasibility of incorporating 2-OPP, oxo-PIP, and pipecolate into routine butylated FIA-MS/MS workflows used for biochemical NBS. A total of 9402 dried blood spots (DBS), including nine confirmed PDE-ALDH7A1 patients and 9393 anonymized controls were analyzed using a single multiplex assay. 2-OPP emerged as the most sensitive biomarker, identifying all PDE-ALDH7A1 patients with 100% sensitivity and a positive predictive value (PPV) of 18.4% using a threshold above the 99.5th percentile. Combining elevated 2-OPP (above the 99.5th percentile) with either pipecolate or oxo-PIP (above the 85.0th percentile) as secondary marker detected within the same multiplex FIA-MS/MS assay further improved the PPVs to 60% and 45%, respectively, while maintaining compatibility with butanol-derivatized method. Notably, increasing the 2-OPP threshold above the 99.89th percentile, in combination with either pipecolate or oxo-PIP above the 85.0th percentile resulted in both 100% sensitivity and 100% PPV. This study supports the strong potential of 2-OPP-based neonatal screening for PDE-ALDH7A1 within existing NBS infrastructures. The ability to multiplex 2-OPP, pipecolate and oxo-PIP within a single assay offers a robust, practical, high-throughput and cost-effective approach. These results support the inclusion of PDE-ALDH7A1 in existing biochemical NBS panels. Further prospective studies in larger cohorts are needed to refine cutoffs and confirm clinical performance. Full article
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14 pages, 627 KiB  
Article
Early Warning Approach to Identify Positive Cases of SARS-CoV-2 in School Settings in Italy
by Caterina Milli, Cristina Stasi, Francesco Profili, Caterina Silvestri, Martina Pacifici, Michela Baccini, Gian Maria Rossolini, Fabrizia Mealli, Alberto Antonelli, Chiara Chilleri, Fabio Morecchiato, Nicla Giovacchini, Vincenzo Baldo, Maurizio Ruscio, Francesca Malacarne, Francesca Martin, Emanuela Occoni, Rosa Prato, Domenico Martinelli, Leonardo Ascatigno, Francesca Fortunato, Maria Cristina Rota and Fabio Volleradd Show full author list remove Hide full author list
Microorganisms 2025, 13(8), 1775; https://doi.org/10.3390/microorganisms13081775 - 30 Jul 2025
Viewed by 133
Abstract
During the COVID-19 pandemic, some studies suggested that transmission events could originate from schools. This study aimed to evaluate early-warning methods for identifying asymptomatic COVID-19 cases by implementing screening programs in schools. This study was conducted between September 2021 and May 2023, employing [...] Read more.
During the COVID-19 pandemic, some studies suggested that transmission events could originate from schools. This study aimed to evaluate early-warning methods for identifying asymptomatic COVID-19 cases by implementing screening programs in schools. This study was conducted between September 2021 and May 2023, employing a rotation-screening plan for COVID-19 detection on a sample of students aged 14 to 19 years attending secondary schools in the regions of Tuscany, Veneto, Apulia and Friuli-Venezia Giulia. The schools were divided into two groups: experimental and control, with a ratio of 1:2. Two types of molecular salivary tests for SARS-CoV-2 were used to conduct the screening. This study included 16 experimental schools and 32 control schools. Out of 2527 subjects, 11,475 swabs were administrated, with 9177 tests deemed valid for analysis (a 20% loss of tests). Among these, 89 subjects (3.5%) tested positive. In control schools, 1895 subjects (6.5%) tested positive for SARS-CoV-2. This study recorded peaks in infections during the winter and autumn months, consistent with patterns observed in the general population. Beginning in September 2022, a shift occurred, with 2.6% of positive cases reported in the case schools compared to 0.3% in the control schools. Initially, most cases of COVID-19 were detected in the control schools; however, as the pandemic emergency phase concluded, cases were primarily identified through active screening in experimental schools. Although student participation in the active screening campaign was low during the project’s extension phase, this approach was efficacious in the early identification of positive cases. Full article
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18 pages, 670 KiB  
Article
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis
by Mădălina Andreea Donos, Lăcrămioara Ionela Butnariu, Dana Teodora Anton Păduraru, Alina Mariela Murgu, Cristina Rusu, Monica Cristina Pânzaru, Roxana Popescu, Elena Țarcă, Elena Cojocaru, Gabriela Ghiga and Laura Mihaela Trandafir
J. Clin. Med. 2025, 14(15), 5362; https://doi.org/10.3390/jcm14155362 - 29 Jul 2025
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Abstract
Background/Objectives: Cystic fibrosis (CF) is a rare autosomal recessive genetic disease that has a progressive and multisystemic course. The spectrum and frequency of mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) vary both in European countries and in [...] Read more.
Background/Objectives: Cystic fibrosis (CF) is a rare autosomal recessive genetic disease that has a progressive and multisystemic course. The spectrum and frequency of mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) vary both in European countries and in other geographical regions. The aim of our retrospective study was to present the genetic variants identified in a group of 48 CF patients from the Moldova region (Romania), as well as to establish genotype–phenotype correlations. Methods: Genetic testing was initially performed for 38 CFTR mutations, and in heterozygous patients or those in whom no mutation was detected, CFTR gene sequencing (NGS) was performed. Results: The compound heterozygous genotype was identified in 26 (54.16%) of the patients (with one of the alleles being F508del), while 22 (45.83%) patients had the homozygous F508del genotype. The F508del variant was the most frequent (69.79%), followed by G542X (6.25%, 6/96). Several new variants were also identified that had not been reported in other studies from Romania (R1158X, K598*, R347H, c.2589_2599del, R496H, and CFTRdele2). Phenotypic manifestations in patients with CFTR class I, II, III and VII variants (homozygous and compound heterozygous) were more severe compared to those in patients with CFTR class IV, V and VI mutations, with the data obtained being consistent with those in the literature. Respiratory tract involvement was present in 77.08% of the patients, being more frequent in patients with the compound heterozygous genotype compared to the homozygous F508del genotype. Most patients had exocrine pancreatic insufficiency (EPI) (85.41%). Gastrointestinal manifestations included hepatocytolysis (66.66%) and biliary cirrhosis (0.41%). Meconium ileus was detected in 18.75% of patients, all with a compound heterozygous genotype. Conclusions: We compared the results obtained with data from the literature and correlated the detected CFTR variant (genotype) with the phenotypic manifestations, highlighting certain particularities present in some patients. Genetic testing allows for early diagnosis and adapted management, including personalized treatment for each patient. Identification of novel unclassified CFTR variants still remains a challenge for clinicians. NGS-based screening of heterozygous healthy carriers is important for both genetic counseling and prenatal diagnosis. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Clinical Manifestations and Treatment)
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14 pages, 950 KiB  
Article
Circulating miRNA Profile in Inflammatory Bowel Disease Patients with Stress, Anxiety, and Depression
by Maria Dobre, Teodora Ecaterina Manuc, Mircea Manuc, Ioan-Costin Matei, Anastasia-Maria Dobre, Andrei-Daniel Dragne, Elisabetta Maffioletti, Iulia Andreea Pelisenco and Elena Milanesi
Int. J. Mol. Sci. 2025, 26(15), 7321; https://doi.org/10.3390/ijms26157321 - 29 Jul 2025
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Abstract
High rates of depression and anxiety have been reported among patients with inflammatory bowel disease (IBD). The bidirectional relationship between these two conditions, with each affecting the progression of the other, leads to a reduced quality of life. The aim of this study [...] Read more.
High rates of depression and anxiety have been reported among patients with inflammatory bowel disease (IBD). The bidirectional relationship between these two conditions, with each affecting the progression of the other, leads to a reduced quality of life. The aim of this study was to identify a miRNA-based pattern that may either be unique to IBD or associated with this complex phenotype. The levels of 179 miRNAs were assessed using qRT-PCR in the plasma of individuals primarily diagnosed with recurrent depressive disorder (SAD), IBD patients (IBD), IBD patients showing symptoms of stress, anxiety, and depression (IBD + SAD), and a control group. Four miRNAs were found to be specifically associated with IBD and more than 20 miRNAs with SAD. Notably, the levels of five miRNAs (miR-223-3p, miR-1260a, miR-320d, miR-423-5p, and miR-486-5p) differed in all the comparisons. miR-342-3p and miR-125a-5p were identified as possible biomarkers able to discriminate between IBD and IBD + SAD. The identification of this pattern of miRNA specific to IBD + SAD could be useful for monitoring disease activity and progression in IBD patients struggling with psychiatric symptoms, which can negatively impact adherence to follow-up care. Full article
(This article belongs to the Special Issue Inflammatory Bowel Diseases: Molecular Mechanism and Therapeutics)
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