Tag: pubmed

Hum Genomics. 2025 Oct 7;19(1):115. doi: 10.1186/s40246-025-00772-3.

ABSTRACT

Aging, a complex biological process, entails sequential changes in organisms that elevate the risk of frailty, disease, and mortality, affecting individuals at the level of cellular, organ, and organism. This process is influenced by genetic diversity, socioeconomic status, healthcare infrastructure, lifestyle choices, and cultural practices. Gerontology delves into the factors shaping longevity, aging processes, and aging from both evolutionary and individual perspectives. Centenarians and supercentenarians serve as models for studying exceptional longevity, offering insights into the aging process and resistance to age-related diseases. This research investigates common genetic variations (SNPs) shared among 3 centenarians and 18 supercentenarians, individuals aged 110 years or older. 754,520 SNPs were found to be common among all the 21 samples. Utilizing SNPnexus, a genetic variant annotation tool, we annotated coding variants and assessed potential disease susceptibilities associated with these variants. Ensembl was used as an annotation system, we annotated 1,607,122 variants, and found 11,348 coding variants. Among them, 4980 had non-synonymous variants, and 110 variants were observed to have deleterious effects. These deleterious SNPs were linked with 79 genes among them 16 novel variants were identified in 9 genes. The population frequency comparison using the 1000 Genomes Project and gnomAD revealed that a subset of these common, non-synonymous SNPs and deleterious SNPs had minor allele frequencies (MAF) below 1% or were absent entirely, suggesting potential rare variants specific to this cohort. In addition, we also found statistically significant (p < 0.05) 148 enriched pathways, among them the top enriched pathways such as extracellular matrix (ECM) remodeling, signal transduction, disease-associated pathways, sensory processing and metabolism of proteins and RNA. These preliminary findings may help prioritize candidate variants and genes for future studies on larger cohorts with appropriate controls can help in understanding the genetic basis of exceptional longevity.

PMID:41057961 | DOI:10.1186/s40246-025-00772-3

J Occup Med Toxicol. 2025 Oct 7;20(1):32. doi: 10.1186/s12995-025-00480-7.

ABSTRACT

BACKGROUND: Overweight and obesity have a negative impact on health and have a detrimental effect on the operational readiness of soldiers. Different prevention and intervention measures against obesity include diet, physical activity, education, coaching or medication or a combination of several aspects have been investigated. This review systematically assesses the effectiveness of lifestyle, dietary, educational, and pharmacological interventions on weight, body composition, and military readiness in active-duty personnel.

METHODS: We carried out a systematic review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A search was conducted in various electronic databases from 2000 to July 2024. The search strategy combined three concepts: military population, outcome terms, interventions or programs. For the review, 21 articles met the inclusion criteria (total n = 1696). Where possible, the effect size (ES) was calculated.

RESULTS: In studies that only examined exercise, minor effects were reported, e.g. a reduction in weight (-0.5 kg), Body Mass Index (BMI) (-0.3 kg/m²), waist circumference (-0.1 cm) and body fat percentage (-1.1%) without relevant statistical ES. Studies with nutritional programs reported low to moderate ES. Combined programs including dietary and exercise countermeasures showed to be more effective than programs based on diet or exercise alone. Combined programs with exercise and educational methods showed a moderate to large effect size (ES 0.6-1.3) for weight reduction. Pharmacological treatment for reducing fat intake resulted in a larger effect sizes for weight loss. The greatest efficacy (ES > 1.0) was observed for a combined intervention program consisting of lifestyle changing components based on individually tailored cognitive behavioral therapies, psychoeducation, exercise and nutritional interventions.

CONCLUSIONS: Effective countermeasure for reducing body weight found in this study were combined interventions, like education on lifestyle changes, dietary habits and promotion of physical activity in military personnel, as well as by ketogenic dietary interventions combined with physical activity and followed by pharmacological intervention approaches. Combined interventions appear promising in some studies, but future evaluations may focus on combinations of physical activity and exercise with new pharmaceutical approaches like Semaglutide or Bimagrumab medication in the long term for military personnel due to probable favorable body composition adaptations and military readiness.

PMID:41057950 | DOI:10.1186/s12995-025-00480-7

Health Qual Life Outcomes. 2025 Oct 7;23(1):97. doi: 10.1186/s12955-025-02421-8.

ABSTRACT

BACKGROUND: COVID-19 has affected millions globally, with a significant proportion experiencing long-COVID and impaired health-related quality of life (HRQoL). This systematic review and meta-analysis aimed to synthesize the existing literature on HRQoL in COVID-19 patients.

METHODS: We conducted a systematic search of PubMed, Embase, Web of Science, Scopus, and the Cochrane Library for studies published between December 2019 and March 2025. Eligible studies were peer-reviewed and assessed HRQoL in COVID-19 patients using the EQ-5D instrument. Study quality and risk of bias were evaluated using the Newcastle-Ottawa Scale. Pooled health utility values were estimated using a random-effects model, and heterogeneity was assessed via I² statistics. Predictors of poor HRQoL were qualitatively narrated.

RESULTS: Out of 3539 references, 187 studies with 116,525 participants were analyzed. The majority (80.2%) used the EQ-5D-5 L version. The pooled mean EQ-5D utility score was 0.76 (95% CI 0.74-0.79, I² = 99.9%) while the mean EQ-5D Visual Analogue Scale (VAS) score was 70.76 (95% CI 68.48-73.04; I² = 99.7%). Pain/discomfort and anxiety/depression were the most affected domains, reported by 51% and 46% of patients, respectively. Subgroup analysis showed significant differences in HRQoL based on national income status (p = 0.038) and geographic region (p < 0.001). Common predictors of lower HRQoL included older age, female gender, disease severity, comorbidities, and post-COVID-19 symptoms.

CONCLUSION: This systematic review demonstrates a substantial reduction in HRQoL among COVID-19 patients compared to the general population. The pooled utility values of COVID-19 contribute to understanding patients’ HRQoL and can assist in calculating Quality-Adjusted Life Years. This provides essential data for future economic evaluations and informs health policy decisions.

PMID:41057923 | DOI:10.1186/s12955-025-02421-8

Breast Cancer Res. 2025 Oct 7;27(1):172. doi: 10.1186/s13058-025-02133-3.

ABSTRACT

BACKGROUND: The global rise in breast cancer (BC) incidence is mirrored in the Sultanate of Oman, where the median age of diagnosis is strikingly young at 47 years. This pilot study represents the first in the region to examine the genetic alterations of Omani BC biopsies and resected tumors and their correlations with patient characteristics using a targeted pan-cancer panel.

METHODS: Utilizing the Oncomine Comprehensive Assay Plus, we profiled 40 BC biopsies alongside 22 matched post-neoadjuvant chemotherapy samples, identifying single-nucleotide variations (SNVs) and copy number variations (CNVs). Chi-Square and Fisher’s Exact tests were used for categorical variables. In contrast, the Independent T-test and Levene test were used for continuous variables. Comparative analyses were conducted using the METABRIC and TCGA datasets to place these findings in a global context.

RESULTS: The data revealed molecular patterns between early-onset (under 50 years) and late-onset (50 years and older) cases. Notably, SNVs were predominant in late-onset tumors, while CNVs were more frequent in early-onset cases. PIK3CA SNVs emerged as a hallmark of late-onset BC, which persists across pre- and post-treatment stages. NTRK1 mutations were linked to late-onset cases at pre-treatment, while OR6F1 CNV was exclusive to early-onset tumors. The five genes with the highest CNV prevalence in the cohort were CDK12, ERBB2, BRIP1, and BLM, and they closely mirrored those found in global datasets. Correlations with clinical features identified CHEK2 alterations associated with high-grade tumors and luminal and HER2 type, while TP53 mutations were predominantly found in TNBC cases. Mutations in CBFB and GATA3 were predominantly enriched in luminal subtypes, and TSC1 mutations corresponded with smaller tumors, whereas FGFR4 SNVs were linked to nodal (N) status. Additionally, we identified 19 new SNV variants distributed across seven genes that were not recorded in the public databases.

CONCLUSION: This study sheds light on the genetic landscape of BC driver genes in Oman and the shared molecular traits with Western populations while uncovering unique regional alterations in NTRK1, OR6F1, and FGFR4. These findings highlight the need for region-specific insights to inform targeted therapies and personalized care, advancing the global understanding of BC biology.

PMID:41057920 | DOI:10.1186/s13058-025-02133-3

BMC Psychol. 2025 Oct 7;13(1):1113. doi: 10.1186/s40359-025-03448-8.

ABSTRACT

This study explores how gender and year of study influence academic motivation among undergraduate students at King Faisal University, Saudi Arabia, an understudied non-Western, gender-segregated context in the motivation literature. By situating the research within this unique population, the study responds to calls for expanding motivational research beyond Western samples and contributes culturally grounded insights to the field. Using a mixed-methods approach, quantitative data were collected from 267 students (51.3% female, 48.7% male) via the Academic Motivation Scale, alongside qualitative insights from nine semi-structured interviews. Descriptive statistics showed that female students consistently scored higher in both intrinsic and extrinsic motivation, while male students reported significantly greater levels of amotivation. Motivation peaked in the first year of university and declined steadily in later years. Two-way ANOVA results revealed significant main effects of both gender and year of study across all seven academic motivation subscales (p < .05), though no significant interaction effects were found, suggesting stable gender-based differences across academic progression. Regression analysis further identified gender (β = 0.50, p = 0.013) and year of study (β = -0.75, p < 0.001) as significant predictors of motivation, particularly for intrinsic motivation to know. Thematic analysis reinforced the quantitative findings, highlighting external pressures, career concerns, and sociocultural expectations as key factors shaping students’ motivational experiences. These findings underscore the urgency of implementing targeted, gender-sensitive interventions, such as academic mentoring, psychological support, and flexible curricular pathways, to sustain motivation, particularly in later academic years. By contextualizing academic motivation within the Saudi higher education system, this study contributes novel empirical insights and practical implications for educators and policymakers aiming to enhance student engagement and persistence in culturally specific settings.

PMID:41057916 | DOI:10.1186/s40359-025-03448-8

Chin Med. 2025 Oct 7;20(1):169. doi: 10.1186/s13020-025-01145-7.

ABSTRACT

Polyherbal formulations (PHFs) serve as a cornerstone of traditional medical systems worldwide and remain integral to diverse therapeutic practices. The COVID-19 pandemic has reinvigorated scientific interest in PHFs, driving extensive investigations into their composition and pharmacological potential. In this study, we systematically analyzed PHFs across major traditional medical systems, including Traditional Chinese Medicine (TCM), Kampo, Ayurveda, and Unani. To facilitate comprehensive analysis, we developed the Global Polyherbal Formulation Database (GPFD), a repository documenting formulation names, sources, historical evolution, ingredient composition, dosages, medicinal origins, and therapeutic applications. Leveraging this extensive dataset, we conducted a cross-system comparative analysis of PHFs using statistical analysis and data integration approaches. Our investigation focused on plant usage frequency and co-occurrence patterns to uncover underlying principles of formulation design. This study establishes a research framework for PHFs, explores the relationship between species selection, and ecological distributions, and identifies key taxonomic differences in plant utilization across systems. Additionally, we reveal distinct preferences in herbal combinations within each system, highlighting both shared and unique formulation patterns. These findings provide critical insights into the cross-cultural utilization of PHFs and offer a data-driven foundation for integrating traditional botanical knowledge into modern pharmacological research and drug development.

PMID:41057911 | DOI:10.1186/s13020-025-01145-7

Hum Genomics. 2025 Oct 7;19(1):114. doi: 10.1186/s40246-025-00828-4.

ABSTRACT

BACKGROUND: Gitelman syndrome (GS) is a rare tubulopathy with clinical and genetic heterogeneity. This study aimed to investigate the characteristics of Chinese GS patients.

METHODS: The diagnosis of GS was established by combining clinical phenotypes with genetic testing, after which the clinical, biochemical, and genetic data were statistically analyzed.

RESULTS: We reported 95 Chinese GS patients aged 2-52 years. The younger group (≤ 16 years) had more frequent febrile episodes (20.4% vs. 4.3%, P = 0.028) and nausea/vomiting (12.2% vs. 0.0%, P = 0.027) but fewer paresthesia/numbness (20.4% vs. 43.5%, P = 0.026) and palpitations (8.2% vs. 37.0%, P = 0.001), along with higher serum potassium and magnesium levels (2.86 ± 0.45 mmol/L vs. 2.67 ± 0.38 mmol/L, P = 0.034; 0.65 ± 0.14 mmol/L vs. 0.58 ± 0.16 mmol/L, P = 0.031) than the older group (> 16 years). Moreover, serum potassium and magnesium levels were positively correlated and both were negatively correlated with age. Additionally, Among 170 detected SLC12A3 variants, 73 distinct variants were identified, including six novel ones. The compound heterozygous group exhibited higher serum magnesium levels compared to the heterozygous and homozygous groups (0.65 ± 0.17 mmol/L vs. 0.56 ± 0.09 mmol/L, P = 0.015; 0.65 ± 0.17 mmol/L vs. 0.51 ± 0.07 mmol/L, P < 0.001). Age at diagnosis was associated with variant types.

CONCLUSION: The study characterized the phenotypic and genotypic features of Chinese GS patients, highlighting age and mutation genotype as key factors influencing phenotype, underscoring the importance of standardized potassium and magnesium supplementation, and expanding the known mutation spectrum with novel variants.

PMID:41057907 | DOI:10.1186/s40246-025-00828-4

Vet Res. 2025 Oct 7;56(1):190. doi: 10.1186/s13567-025-01618-5.

ABSTRACT

Marek’s disease (MD), caused by Marek’s disease virus (MDV), poses a significant threat to the poultry industry worldwide by inducing neurological disorders and malignant lymphoma in infected chickens. The underlying mechanisms of the host response to MDV infection and tumorigenesis remain poorly understood. To gain insight into the host response, we analysed the transcriptomic and metabolomic profiles of the heart tissue of Wenchang chickens, an indigenous Chinese breed, using RNA sequencing and untargeted metabolomics. A total of 2470 and 2666 genes were significantly up- and down-regulated, respectively, between infected and uninfected chickens. KEGG pathway enrichment analysis revealed distinct transcriptional patterns in response to MDV infection: upregulated genes were enriched primarily in immunity-related pathways, whereas downregulated genes were associated with metabolic pathways. Among the 433 differentially expressed metabolites identified, only the caffeine metabolism pathway approached statistical significance (p = 0.067). Integrative mapping of genes and metabolites to the KEGG enzyme database highlighted L-tryptophan interactions, with KYNU, KMO, KYAT3, and AADAT as the most representative relationships. These results provide a quantitative overview of MDV-induced transcriptional and metabolic perturbations, suggesting that hosts may counteract viral infection and tumor progression by suppressing cellular metabolism to potentiate immune responses.

PMID:41057891 | DOI:10.1186/s13567-025-01618-5

BMC Nurs. 2025 Oct 7;24(1):1243. doi: 10.1186/s12912-025-03862-8.

ABSTRACT

BACKGROUND: Mentors play a crucial role in clinical nursing education, particularly in assessing student nurses. However, if students cannot perceive their mentors’ assessment-literate practices (referred to as mentors’ assessment-literate practices hereafter), students may not effectively utilize assessment information for learning. Despite its significance, mentors’ assessment-literate practices and the antecedent factors are not well studied. This study aims to explore the mediating role of nursing students’ self-efficacy in the relationship between their competence and their perception of mentors’ assessment-literate practices, while also examining potential gender bias in mentors’ assessment-literate practices.

METHODS: The study employed a cross-sectional quantitative design. Participants included 854 final-year nursing students (61 males, 793 females) from 10 colleges/universities in southern China. After eight months of clinical training, students reported on mentors’ assessment-literate practices, self-efficacy, internship grades, and gender. Path analysis was conducted using Mplus 8.10 to test the mediating model, and gender bias was assessed through differential item functioning analysis with Winsteps^® (Version 5.6.0.0).

RESULTS: The study found a full mediation effect of self-efficacy between competence and students’ perception of their mentors’ assessment-literate practices, with a statistically significant indirect association of 0.10. The path coefficient between competence and self-efficacy is 0.12, and between self-efficacy and perceived mentors’ assessment-literate practices is 0.86. Gender bias and gender difference were statistically not supported; however, three items showed large effect size regarding gender bias.

CONCLUSIONS: This study introduces assessment-literate practices as a key concept in nursing education, highlighting its antecedent factors and potential gender biases for better assessment practices. The findings suggest that self-efficacy plays a full mediating role; hence, stakeholders should prioritize developing students’ self-efficacy while improving their competence. Also, mentorship practices should be adjusted to ensure equal opportunities for both male and female students; specifically, they may need to be aware of potential gender bias, offering male students more practice opportunities and female students more chances to explain.

PMID:41057885 | DOI:10.1186/s12912-025-03862-8

BMC Med Educ. 2025 Oct 8;25(1):1371. doi: 10.1186/s12909-025-08038-1.

ABSTRACT

BACKGROUND: Peer education (PE) refers to the process of individuals being educated by their peers, that is, people with similar experiences or statuses. This study aimed to evaluate the effects of PE on the psychomotor skills and self-efficacy of nursing students.

METHODS: This single-blind randomized controlled trial was conducted with 63 undergraduate nursing students. Data were collected using the “Individual Descriptive Information Form”, “Intramuscular Injection Knowledge Level Assessment Form”, “Intramuscular Injection Psychomotor Skills Assessment Form”, and the “General Self-Efficacy Scale”. Descriptive statistics (numbers, percentages, means, standard deviations, and min-max values) were used. The independent samples t-test and Mann-Whitney U test were used to analyze differences between groups.

RESULTS: The mean age of the participants was 21.22 ± 0.85 years (range: 20 – 23), and 52.4% were female. No statistically significant differences were found between the groups in pretest, posttest, or self-efficacy scores (p > 0.05). However, the psychomotor skill levels differed significantly between the groups (p < 0.001), with the intervention group scoring higher than the control group.

CONCLUSIONS: Nursing students who received PE demonstrated significantly better psychomotor skills than those taught using traditional methods. It is recommended to integrate interactive learning strategies such as PE, where students can express themselves more freely and actively engage in the learning process, especially in nursing education areas requiring the development of psychomotor skills.

PMID:41057851 | DOI:10.1186/s12909-025-08038-1