Search Results (2,149)

Background/Objectives: Perinatal depression poses significant risks to maternal and fetal health, yet biomarkers for treatment response in the field remain limited. Given the overlap in symptoms with major depressive disorder (MDD) and the comparatively more vast MDD literature, identifying promising MDD biomarkers for treatment response and examining corresponding perinatal depression biomarkers can reveal translational opportunities. Methods: PUBMED searches were conducted for individual biomarkers and MDD and perinatal depression, as well as with treatment response to antidepressant pharmacological treatment and neuromodulation treatments. When available, evidence from meta-analyses and systematic reviews were preferentially summarized. Review: This narrative review presents the current evidence on MDD and perinatal depression treatment response biomarkers, including brain-derived neurotrophic factor (BDNF), S100 calcium-binding protein B (S100B), electroencephalography, event-related potentials, metabolomics, hypothalamic–pituitary–adrenal axis hormones, neuroimaging markers, inflammatory markers, and neuroactive steroids. Conclusions: Biomarker research in MDD yields insights on promising biomarkers for treatment response, including BDNF, S100B, theta band density and cordance, inflammatory markers IL-8, CRP, and TNF- α, and neuroactive steroids. Full article

Background: Accurate segmentation in radiographic imaging remains difficult due to heterogeneous contrast, acquisition artifacts, and fine-scale anatomical boundaries. Objective: This paper presents a Hybrid Attention U-Net, which paired an EfficientNet-B3 encoder with a decoder that is both lightweight, featuring CBAM and SCSE modules, and complementary for channel-wise and spatial-wise recalibration of sharper boundary recovery. Methods: The preprocessing phase uses percentile windowing, N4 bias compensation, per-image normalization, and geometric standardization as well as sparse geometric augmentations to reduce domain shift and make the pipeline viable. Results: For hand X-ray segmentation, the model achieves results with Dice = 0.8426, IoU around 0.78, pixel accuracy = 0.9058, ROC-AUC = 0.9074, and PR-AUC = 0.8452, and converges quickly at the early stages and remains steady at late epochs. Controlled ablation shows that the main factor of overlap quality of EfficientNet-B3 and that smaller batches (bs = 16) are always better at gradient noise and implicit regularization than larger batches. The qualitative overlays are complementary to quantitative gains that reveal more distinct cortical profiles and lower background leakage. Conclusions: It is computationally moderate, end-to-end trainable, and can be easily extended to multi-class problems through a softmax head and class-balanced objectives, rendering it a powerful, deployable option for musculoskeletal radiograph segmentation as well as an effective baseline in future clinical translation analyses. Full article

Background: Patients with neurodevelopmental and neuromuscular disorders often show overlapping clinical phenotypes. Pathogenic variants in KMT5B, a histone lysine methyltransferase, have been linked to neurodevelopmental disorders, yet their effects on human skeletal muscle remain unexplored. We report on a patient with KMT5B-linked disease who presented to a neuromuscular specialty clinic with significant involvement of skeletal muscle, where a multi-omics approach established the genetic diagnosis and revealed neuromuscular findings relevant for diagnosis, care and rehabilitation. Methods: Whole-exome sequencing was performed from blood and data was analyzed using the RD-Connect Genome Phenome Analysis Platform. Histological analysis and proteomic profiling were performed on muscle tissue. Results: Whole-exome sequencing revealed a pathogenic heterozygous variant (c.554_557del, p.Tyr185Cysfs*27) in KMT5B. Histological examination revealed fiber-type grouping, angular fibers, increased fast-twitch fiber proportion, and lipid droplet accumulation, indicative of muscle denervation. Proteomic profiling identified 77 dysregulated proteins, including upregulation of sarcomeric proteins, mitochondrial and glycolytic enzymes, acute-phase and complement factors, and extracellular matrix components, reflecting structural remodeling, metabolic adaptation, and inflammatory activation. These findings align with the role types observed in Kmt5b mouse models, supporting a role of KMT5B in neuromuscular function. Conclusions: We present the first combined histological and proteomic analysis of quadriceps muscle from a patient carrying a pathogenic KMT5B variant with a neuromuscular phenotype. The convergence of histological and proteomic alterations suggests that KMT5B haploinsufficiency may be associated with fiber-type shifts, denervation, and metabolic stress in human skeletal muscle. Understanding these processes provides mechanistic insight into motor deficits and informs targeted therapeutic strategies, including physiotherapeutic interventions, and early compensatory measures. Full article

(1) Background: Surgical site infections (SSIs) pose a significant clinical challenge, with early detection hindered by the overlap between physiological postoperative inflammation and incipient infection. Continuous wound temperature monitoring offers a promising, non-invasive method to identify subtle thermal deviations that precede overt clinical signs. This review synthesizes current evidence on the utility of temperature monitoring as an early predictor of SSI and evaluates its clinical applications. (2) Methods: A narrative literature review was conducted using PubMed and Embase for English-language studies published between 2015 and 2025. Following PRISMA principles, eligible studies were selected that examined continuous or repeated local wound temperature measurements in adult postoperative patients and their association with a clinical diagnosis of SSI. (3) Results: Six studies met the inclusion criteria. Key findings indicate that infected wounds may paradoxically exhibit lower temperatures “cold spots” than non-infected wounds in the early postoperative period. Dynamic indicators, particularly the temperature difference (ΔT) between the wound and adjacent skin and the temperature trajectory over time, proved more predictive than single, isolated measurements. Confounding factors such as patient adiposity were noted to influence thermal signatures. (4) Conclusions: Wound temperature monitoring is a valuable strategy for the early risk stratification of SSI. The analysis of thermal trends and dynamic parameters holds greater diagnostic significance than single readings. Integration with other biomarkers may further enhance specificity, but the development of standardized measurement protocols is essential for reliable clinical implementation and improved postoperative outcomes. Full article

Background/Objectives: Current genomics research equates the genome with DNA sequence and treats the epigenome as a regulatory layer. This DNA-centric view obscures the fact that genomic identity arises through epigenomic processes. The objective of this article is to reinterpret published findings into a new theoretical framework: the EpG² (Epigenome–Genome) system. Methods: This work develops a new conceptual framework by integrating published evidence from diverse domains—including enhancer biology, overlapping genomic functions, alternative coding frames, zygotic genome activation, and disease-associated loci—and reinterpreting these findings through the lens of epigenomic processes. Results: Evidence shows that enhancers emerge only through the interplay of sequence, transcription factors, and chromatin environment. At fertilization, paternal and maternal genomes remain separate, and a new genome emerges through coordinated epigenomic reprogramming or zygote genome emergence (ZGE). DNA sequence risk variants illustrate the concept of contextual risk alleles, whose effects shift across tissues and developmental stages as epigenomic contexts change. Conclusions: The EpG² system reframes the genome as a processual, emergent entity generated and regulated by epigenomic processes, offering a paradigm for understanding genomic variation beyond DNA sequence. Full article

The fiber mode field overlap integral method is employed to analyze the influencing factors of coupling efficiency, as well as the effects of axial and radial alignment errors on coupling efficiency under different relative apertures of coupling lenses. The results indicate that there exists an optimal relative aperture of the coupling lens that maximizes coupling efficiency; however, at this optimal point, coupling efficiency is more susceptible to radial errors. Regarding axial and radial errors, when the relative aperture of the coupling lens is at its optimal value, the tolerance for alignment errors is minimal. Conversely, when the relative aperture exceeds the optimal value, both coupling efficiency and tolerance for alignment decrease. When the relative aperture is less than the optimal value, the requirement for installation accuracy decreases while the tolerance becomes larger. The trend of the simulation results aligns with the experimental data. This study provides instructive significance regarding the trade-off between coupling efficiency requirements and alignment accuracy in the design of actual polarization-maintaining fiber coupling systems. Full article

Deep-ultraviolet (DUV, 193 nm) tools for lithography and precision micromachining are often limited by beam-profile nonuniformity, which degrades critical-dimension control, line-edge roughness, and process windows. Conventional phase-dependent homogenizers can lose performance under realistic phase noise and pointing jitter. We investigate two complementary, energy–space-modulation routes to robust homogenization: (i) a metalens-based microlens array (MLA) that forms a flat-top via controlled beamlet overlap and (ii) a chromium-on-sapphire attenuator that equalizes intensity purely by amplitude shaping. Coupled FDTD and optical modeling guide a graded-transmittance Cr design (target transmittance 0.8–0.9) that converts a Gaussian input into a flat-top plateau. Experiments at 193 nm verify that both approaches achieve high static uniformity (Urms <3.5%). Under dynamic conditions, the MLA exhibits sensitivity to transverse-mode hops and phase fluctuations due to its reliance on coherent overlap, leading to reduced uniformity and fill factor. In contrast, the Cr attenuator remains phase-insensitive and maintains stable output under jitter, offering a power-robust, low-maintenance alternative for industrial DUV systems. We discuss design trade-offs and outline hybrid MLA + attenuation schemes that preserve MLA-level flatness while approaching the robustness of amplitude-shaping solutions. Full article

Despite valuable insights into the individual roles of genetic factors and personality traits, their combined contribution to addiction susceptibility remains insufficiently characterized. Within this framework, the potential influence of epigenetic mechanisms, particularly those mediated by the gut microbiome, also remains underexplored. This comprehensive review aims to address these gaps in an integrative manner by examining: (i) the association of gene regulation with personality traits; (ii) the genetics of substance use disorders; (iii) the roles of genes and personality in addiction; and (iv) epigenetic influences on addiction, with a particular focus on the role of the gut microbiome. Genetic influences on personality act primarily via regulatory variants that modulate gene expression during neurodevelopment, shaping cognitive, emotional, and behavioral traits that contribute to individual differences. Substance use disorders share partially overlapping genetic foundations, with specific loci, heritability estimates, and causal pathways differing across substances, reflecting both shared vulnerability and substance-specific genetic influences on addiction susceptibility. Impulsivity, novelty-seeking, and stress responsiveness are heritable personality traits that interact to shape susceptibility to substance use disorders, with genetic factors modulating risk across different forms of addiction. Environmental factors, early-life stress, and social influences interact with the gut microbiome to shape neurobiological and behavioral pathways that modulate addiction risk. These interactions highlight the multifactorial nature of substance use disorders, in which epigenetic, microbial, and psychosocial mechanisms converge to influence susceptibility, progression, and maintenance of addictive behaviors. Full article

Emys trinacris, the Sicilian pond turtle, is a species endemic to the island of Sicily. Despite its global and Italian distribution aligning, E. trinacris is classified as “Data Deficient” by the IUCN Red List, but “Endangered” on the Italian Red List, due to threats from habitat destruction, pollution, invasive species, and the illegal pet trade. To aid conservation efforts, understanding the suitability of the species’ habitat is essential. This study aims to create a habitat suitability map by incorporating bioclimatic variables but also environmental factors related to the species’ preference for wetland habitats. We employed the Maximum Entropy model (MaxEnt), based on 264 georeferenced presence points and 33 climatic, topographic, and habitat-related variables. Our model, with an Area Under the Curve of 0.947 and True Skill Statistic of 0.853, identified key predictors such as winter temperature and summer precipitation, with a notable dependence on wetland vegetation. The resulting suitability map highlights the central-southern regions of Sicily as critical areas for the species, with moderate to high suitability also present in the western coastal areas. However, the map shows a discrepancy between the wide distribution of presence records and the limited high-suitability area. This study also assessed the overlap of suitable habitats with existing Natura 2000 sites, showing satisfactory protection levels, though agricultural reservoirs remain unprotected. Active conservation strategies, including expanding protected areas and improving habitat connectivity, are crucial to ensuring the long-term survival of E. trinacris in Sicily. Full article

Background: Low back pain (LBP) profoundly impacts daily life, requiring assessment tools that capture its complex effects on the body and mind. This study explores a measurement tool designed to assess LBP disability, testing whether Exploratory Structural Equation Modeling (ESEM) better reveals its multidimensional nature compared to Confirmatory Factor Analysis (CFA). Methods: We analyzed data from 266 LBP patients using CFA and ESEM. The tool, developed from the items from existing scales, included 99 questions on body functions, activities, and participation. Using Mplus 8 software, we compared model fit and item connections. Results: Two main factors; “Body Functions” and “Activity-Participation” identified by CFA were tested using ESEM. While ESEM had slightly better fit compared to CFA model, many items linked across both factors which shows how pain and emotions overlap with daily activities. These results align with the International Classification of Functioning, Disability and Health (ICF) and reflect LBP’s broad impact. Conclusions: ESEM offers a broader understanding of LBP’s multidimensional nature compared with CFA, guiding clinicians to create a holistic management approach that address physical and psychosocial challenges. This preliminary study supports the use of ESEM in disability research, demonstrating its usefulness in identifying the multifaceted nature of LBP, therefore providing a broader perspective for assessment and management. Full article

Background: Dihydromyricetin (DHM), a natural dihydroflavonol, exhibits diverse pharmacological properties, including anti-inflammatory, antioxidant, and anti-tumor effects. However, its potential mechanism of action in the individualized therapy of hepatocellular carcinoma (HCC) remains unclear. Methods: Potential therapeutic targets of DHM were identified using the Swiss Target Prediction database. The overlap between these targets and differentially expressed genes in HCC was analyzed to determine therapeutic targets. A prognostic model was constructed based on these genes, and patients were stratified into high- and low-risk groups. The associations between risk scores, clinical pathological characteristics, and overall survival were analyzed using Cox regression and Kaplan–Meier survival curves. The relationships between risk score and immune cell infiltration, immunosuppressive factors, and anticancer drug susceptibility were evaluated. Results: A three-gene prognostic model was established, comprising DTYMK, MAPT, and UCK2, designated as DHM-target genes (DHMGs). Patients in the high-risk group had significantly shorter overall survival than those in the low-risk group (p < 0.001; HR [95% CI] = 4.953 [2.544, 9.645]). Higher risk scores were correlated with more advanced tumor stages and grades. Comprehensive analysis of the tumor immune microenvironment revealed that high-risk patients exhibited significantly elevated TIDE scores, increased Treg cell infiltration, and markedly reduced stromal scores. Conclusions: This study developed a prognostic model based on the potential target genes of DHM in HCC. This model effectively stratifies HCC patients, identifying a high-risk subgroup characterized by an immunosuppressive microenvironment. These findings provide a theoretical foundation for exploring DHM as a promising natural adjuvant for cancer immunotherapy. Full article

Soil salinity severely threatens soybean productivity worldwide. While transcriptional responses to salt stress are well-documented, the role of post-transcriptional regulation, particularly alternative splicing (AS), remains underexplored. This study combines physiological phenotyping, transcriptome-wide analysis, and molecular genetics to uncover the mechanisms behind the differences in salt tolerance between the salt-sensitive variety Huachun 6 (HC6) and the resistant variety Fiskeby III. Under salt stress, Fiskeby III exhibited superior survival rates and maintained ion homeostasis, as evidenced by a lower Na⁺/K⁺ ratio, compared with HC6. Transcriptomic and splicing analysis revealed extensive salt-induced alternative splicing reprogramming. Genes undergoing differential AS were enriched in pathways related to stress response, ion transport, and RNA splicing. Based on the overlap with both differentially expressed genes (DEG) and alternative splicing (DAS) genes under salt stress, a key splicing factor, GmSR34b, was identified as a central regulator of AS under salt stress. Under NaCl stress, the expression of GmSR34b in leaves peaked at 1 h and a salt stress-specific splicing variant was rapidly induced. A comparative analysis showed that the Fiskeby III cultivar prioritized maintenance of the full-length transcript during prolonged stress, whereas the HC6 cultivar accumulated higher levels of the splicing variant. This indicates differences in the regulation of alternative splicing between these two cultivars. Functional validation confirmed that overexpression of GmSR34b in soybean hairy roots inhibited salt tolerance. This study provides novel insights into the molecular mechanisms of salt tolerance in soybean, suggesting potential strategies for breeding resilient crops through the manipulation of splicing regulators. Full article

Many electromechanical specialists have attempted to move away from the classical method of designing windings of electrical machines using the star of slot electromotive forces, but their approaches are not always simple or universal. This article proposes a straightforward algorithmic method of winding synthesis based on number theory, which makes it possible to compute the distribution table of symmetrical multiphase, multimodular windings. Analytical expressions are provided for determining the assignment of coils to the corresponding phases, phase zones, and winding modules by sampling coils from a closed-ring structure. The method allows one to determine the direction of coil connections within a phase and covers both overlapping and non-overlapping windings. Three characteristic cases of the relationship between the number of coils and the number of pole pairs in multiphase alternating-current electrical machines are analyzed from the perspective of number theory. Conditions for implementing symmetrical windings are presented. The distribution factors of modular windings for higher field harmonics are evaluated. To validate the approach, examples of application and experimental results are provided. Full article

Background/Objectives: Pulmonary fibrosis (PF) and lung cancer (LC) are major global health challenges that share several pathogenic mechanisms despite their distinct clinical features. PF leads to progressive fibrotic remodeling and respiratory decline, while LC is characterized by uncontrolled proliferation, invasion, and metastasis. Growing evidence shows that PF markedly increases the risk of LC development. This review aims to clarify the convergent molecular and cellular mechanisms that link fibrogenesis to tumorigenesis. Methods: Published studies exploring shared pathogenic pathways, molecular signaling networks, immune microenvironment alterations, and mitochondrial and genomic disturbances in PF and LC were systematically examined and integrated to identify common mechanisms contributing to fibrosis-associated carcinogenesis. Results: Findings highlight several overlapping processes between PF and LC, including oxidative stress, genomic instability, dysregulated DNA damage repair, immune microenvironment remodeling, mitochondrial dysfunction, and alterations in the ubiquitin–proteasome system. These aberrations drive chronic inflammation, epithelial–mesenchymal transition (EMT), extracellular matrix (ECM) remodeling, and other hallmarks shared by both diseases. Key signaling pathways—such as transforming growth factor-β (TGF-β), programmed cell death protein-1/programmed death-ligand 1 (PD-1/PD-L1), and tumor microenvironment–mediated immune evasion—further contribute to disease progression and increased LC risk in PF patients. Conclusions: Integrating molecular and pathological insights reveals a strong biological continuum between PF and LC. Understanding these convergent mechanisms may facilitate the identification of diagnostic biomarkers and therapeutic targets, ultimately helping to mitigate PF-associated lung carcinogenesis. Full article

Despite advances in blood-based screening tests for colorectal cancer (CRC), most existing assays focus on DNA-based biomarkers, which predominantly reflect tumor-derived fragments released at later disease stages. In contrast, whole-blood transcriptomic profiling can capture systemic immune responses and tumor–host interactions, offering a complementary strategy for earlier disease detection. However, clinically validated whole-blood transcriptomic signatures remain limited. Here, we investigated a whole-blood RNA-based biomarker discovery strategy by integrating multi-cohort transcriptomic resources. Public GEO datasets (GSE164191 and GSE11545) were harmonized and analyzed, yielding 956 differentially expressed genes (DEGs). Multi-layer biological filtering incorporating PPI networks, transcription factors, CRC-related GWAS variants, whole-blood eQTL signals, DigSeE, and CoReCG disease associations refined these to 375 high-confidence transcripts (WB-PADs). In parallel, RNA-seq analysis of a Korean cohort (10 CRC vs. 10 controls) identified 217 DEGs (WB-K). Cross-dataset convergence highlighted seven overlapping transcripts, and five candidates (DLG5, CD177, SH2D1B, NQO2, and KRT73) were selected for validation. RT-qPCR in an independent clinical cohort (106 CRC and 123 healthy controls) confirmed four transcripts with significant discriminatory ability. A multivariable logistic regression model derived from the five-transcript signature achieved an AUC of 0.952 (95% CI 0.884–1.000), with sensitivities of 0.889 and 0.667 at fixed specificities of 90% and 95%, respectively, demonstrating strong applicability for screening-relevant thresholds. Notably, the model retained high accuracy in early-stage CRC (Stage I–II: AUC 0.929, 95% CI 0.868–0.989). Overall, this study provides a robust analytic framework for reproducible whole-blood RNA biomarker discovery and establishes a multi-gene signature with promising translational potential for minimally invasive and early CRC detection. Full article