Search Results (56)

Background/Objectives: Long COVID is frequently characterized by neurological, cognitive, neuropsychiatric, and autonomic symptoms (NeuroCOVID). However, their impact on daily functioning remains insufficiently investigated. This study evaluated the association between NeuroCOVID burden and functional impairment among Italian Long COVID survivors. Methods: A secondary cross-sectional analysis was conducted on 250 adults using a validated Italian Long COVID questionnaire. A NeuroCOVID Burden Score (10 symptom domains) and a Functional Impairment Score (daily activities) were constructed and analyzed using correlation and multivariable linear regression. Results: The sample (mean age 33.2 years; 63.6% female) demonstrated high internal consistency for both scores. A strong positive correlation was found between NeuroCOVID burden and functional impairment (r = 0.703; p < 0.001). Conclusions: Persistent NeuroCOVID burden was strongly associated with greater limitations in daily activities. In multivariable regression, NeuroCOVID Burden Score remained independently associated with functional impairment (B = 0.671; 95% CI 0.566–0.776; p < 0.001), together with acute COVID-19 severity (B = 0.156; 95% CI 0.055–0.257; p = 0.003). The final model explained 52.5% of the variance in functional impairment (R² = 0.525). Full article

The number of households with pets has been steadily increasing in recent years, highlighting the growing social and economic importance of companion animals. The increasing role of animals in human life and the need for biodiversity protection have contributed to growing interest in animal DNA analysis, although it still remains less developed than human forensic genetics. Current research focuses on genetic identification, parentage verification, biodiversity monitoring, and wildlife forensic investigations. DNA identification methods have evolved from restriction fragment length polymorphism (RFLP) to short tandem repeat (STR) analysis, which is currently one of the most widely used approaches due to its high sensitivity, discriminatory power, and the possibility of multiplex amplification. Recent advances include the implementation of massively parallel sequencing (MPS/NGS), sequence-based STR typing, and integrated SNPSTR systems, which significantly improve the interpretation of complex and degraded samples. Despite challenges associated with PCR artefacts, stutter formation, allelic imbalance, and interpretation of low-template DNA, STR markers remain valuable tools in forensic analyses, conservation genetics, and combating illegal wildlife trade. Continued development of new marker panels, standardized nomenclature systems, and bioinformatic approaches is essential for improving the effectiveness and reliability of animal genetic identification. Full article

Background/Objectives: Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental condition characterized by a complex and multifactorial genetic architecture. In this study, we report a male patient, born to non-consanguineous healthy parents, presenting with ADHD and oppositional defiant disorder (ODD). Methods: Trio-based whole-exome sequencing (WES) was performed in the proband and both parents. Variant classification was performed according to American College of Medical Genetics and Genomics (ACMG) guidelines, and the potential pathogenicity of the identified variant was further assessed through multiple in silico prediction algorithms and protein structural analyses. Results: WES identified a homozygous variant in the LNX2 gene (NM_153371.4: c.1165G>A, p.Ala389Thr), classified as a variant of uncertain significance (VUS) and supported by multiple in silico predictions. LNX2 is expressed during brain development and encodes an E3 ubiquitin ligase involved in neuronal differentiation and synaptic function. The identified variant is located within the PDZ2 domain, a functionally relevant region involved in protein–protein interactions. Although the variant is reported in population databases (gnomAD ID: rs148429804), it has not been associated with any clinical phenotype, and its presence in the homozygous state has been reported only once, remaining extremely rare and lacking clinical annotation. Structural modelling predicted localized rearrangement of the hydrogen-bonding network within the PDZ2 domain without major conformational changes. Integrative transcriptomic, and single-cell analyses further supported the biological relevance of LNX2 in neurodevelopment, highlighting its preferential association with neuronal projection-cell networks, synaptic vesicle trafficking pathways, and neuron-specific regulatory programs. Conclusion: Although the identified LNX2 variant cannot be considered causative for the patient’s phenotype and a definitive disease–gene relationship cannot be established based on a single individual, the complementary genetic, structural, and transcriptomic findings support the biological plausibility of LNX2 as a candidate gene for neurodevelopmental disorders. Additional independent patients and functional studies will be required to clarify its contribution to human disease. Full article

Background and Aims: Helicobacter pylori is a major cause of chronic gastritis and peptic ulcer disease. The increasing global spread of antibiotic-resistant strains, particularly against amoxicillin and clarithromycin, poses a significant challenge to eradication therapies. Moreover, treatment-related adverse effects, often linked to antibiotic-induced intestinal dysbiosis, frequently lead to a poor patient compliance; this, in turn, promotes the persistence of resistant bacterial populations. Probiotics may mitigate these effects and improve treatment adherence. This study aimed to assess the genomic safety of new probiotics intended for adjuvant use in H. pylori eradication regimens. Methods: Whole-genome sequencing was performed on three probiotic strains: one of Lactobacillus acidophilus, and two of Bifidobacterium animalis subsp. lactis. Genomes were compared with corresponding wild-type reference strains to identify genetic variations and detect mobile genetic elements. Results: Comparative genomic analysis revealed differences between selected and wild-type strains. Importantly, no plasmids or transposons were identified, suggesting a reduced theoretical risk of horizontal transfer of antimicrobial resistance determinants. Genomic findings were consistent with in vitro phenotypic observations. Conclusions: Whole-genome sequencing provided a robust assessment of the safety profile of these strains. The absence of transferable resistance elements supports their potential use as probiotic candidates to improve tolerability and adherence to H. pylori eradication therapies, contributing to more effective treatment outcomes. Full article

Statins are commonly used cholesterol-lowering drugs, but their effects on astrocyte oxidative metabolism are poorly understood. To investigate this, rat astrocytes were exposed to 200 nM atorvastatin or simvastatin for 6 days and then assessed for changes in coenzyme Q (CoQ) homeostasis, mitochondrial function, and energy metabolism. Both statins comparably decreased cellular CoQ9 and CoQ10 levels (~35%), with greater losses of their reduced antioxidant forms (60–75%). Lower intracellular and mitochondrial levels of reactive oxygen species (ROS) were accompanied by the upregulation of nuclear factor erythroid 2-related factor 2 (NRF2)-dependent antioxidant pathways (superoxide dismutase 1 and glutathione reductase) and metabolic stress response factors, including hypoxia-inducible factor 1-alpha (HIF1α) and brain-derived neurotrophic factor (BDNF). Both statins promoted glycolytic reprogramming, mitochondrial fission, and biogenesis while impairing oxidative phosphorylation, as evidenced by reduced ATP-linked respiration, increased proton leak, and lower ATP levels. These findings suggest that statin-treated astrocytes adapt by prioritizing redox homeostasis over ATP production. CoQ10 supplementation increased cellular CoQ10 levels and restored ATP levels without further decreasing ROS, suggesting that its primary benefit is bioenergetic support, not additional antioxidant protection. Overall, statin-induced CoQ deficiency induces adaptive metabolic remodeling of astrocytes, while CoQ10 supplementation may help maintain energy metabolism under these conditions. Full article

Background: Dystonia is a heterogeneous hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Although numerous genes associated with dystonia have been identified, the genetic background remains unknown in many patients. Data on genotype–phenotype correlations in Polish populations remain limited. Objective: To analyze the clinical characteristics of patients with generalized dystonia and compare clinical features between individuals with and without genetically confirmed dystonia-causative variants in a Polish cohort. Methods: A retrospective analysis of patients diagnosed with generalized dystonia at a single neurological center was performed. Diagnosis was established according to MDS criteria. Genetic analysis included whole-exome sequencing, targeted NGS genetic panel, MLPA, Sanger sequencing and PCR_RFLP analysis. Clinical and demographic data were extracted from medical records. Clinical characteristics of individuals with and without causative variants were compared. Results: A total of 113 patients with generalized dystonia were included. Genetic variants were identified in 13 patients (11.5%). These included variants within the TOR1A, THAP1, SGCE, GCH1, NKX2-1, SLC2A1, KMT2B, PDHA1, MFN2, and GNAL genes. We found detailed clinical data of 46 patients included in the study. Our comparative analysis of patients with causative (n = 7) and without causative variants (n = 39) revealed no statistically significant differences in age of onset, initial symptom localization, treatment response, family history, or associated neurological features. Conclusions: In this cohort of Polish patients with generalized dystonia, we identified pathogenic variants in approximately 11.5% of cases. No significant clinical differences were observed between patients with genetically confirmed dystonia and those without identified variants. In this study, we report the first two Polish cases with DYT-GNAL variants. Further studies are required to reveal the clinical heterogeneity of dystonia and characterize dystonia subtypes. Full article

The study develops and empirically evaluates a forecasting-orientated structural model in which future Bitcoin historical volatility is modelled as being associated with market sentiment and blockchain fundamentals through market uncertainty. Market Sentiment (MS) is specified as a behavioural construct, Blockchain Fundamentals (BF) as network conditions, and Market Uncertainty (MU) as an endogenous regime construct that consolidates signals shaping historical volatility at t+1. Using 262 weekly observations from January 2021 to January 2026, the analysis applies partial least squares structural equation modelling (PLS-SEM) with formative constructs and a forward-dated volatility target to preserve temporal ordering. Paths are evaluated with bootstrapping, effect sizes, and mediation analysis, while predictive performance is assessed using PLSpredict, the cross-validated predictive ability test (CVPAT), benchmark-based comparison, and Diebold-Mariano (DM) tests. MU emerges as the dominant predictor of Future Historical Volatility, denoted as HV(t+1) in the structural model (β = 0.864, p-value < 0.001; f² = 2.036). The effect of BF is largely indirect, with 91.02% of the total effect transmitted via uncertainty, indicating indirect-only mediation. The model explains substantial variation in HV(t+1) (R² = 0.791) and shows predictive relevance (Q² predict = 0.287), while the benchmark-based results indicate mixed but competitive forecasting performance relative to persistence-based and econometric alternatives. These findings are consistent with a regime-based interpretation of Bitcoin volatility and highlight the explanatory and predictive relevance of an integrated behavioural-network-uncertainty architecture. Full article

Background/Objectives: Nursing turnover represents an increasing threat to the sustainability of healthcare systems. Burnout, a syndrome of chronic work-related stress, is one of the primary predictors of intention to leave work; however, certain organizational factors may be associated with variations in its impact. Among these, the leadership of the Unit Coordinator may represent a potential resource, but its association with the relationship between burnout and intention to leave remains poorly explored. This study investigates the role of coordinators’ leadership in the relationship between burnout and intention to leave the profession. Methods: A cross-sectional study was conducted among 668 nurses providing direct patient care in various Italian healthcare settings. Data were collected through an online questionnaire comprising validated scales reported in the literature. A structural equation modeling approach was used for the analysis. Results: More than 30% of the variance in burnout is explained by interpersonal conflicts, workload, and organizational constraints. Burnout accounts for 24.4% of the variance in nurses’ intention to leave their jobs. The leadership of the nurse coordinator partially mediates the relationship between burnout and nurses’ intention to leave their job (total effect β = 0.532; p < 0.001; indirect effect β = 0.139; p = 0.007; direct effect β = 0.393; p < 0.001). Conclusions: Burnout is a key predictor of nurses’ intention to leave the profession, while ethical leadership of nurse coordinators emerges as a potential organizational resource associated with this relationship. Nursing implications: These findings highlight the importance of promoting ethical leadership within nursing management as part of broader organizational strategies to improve staff well-being and potentially support efforts aimed at reducing nurses’ intention to leave the profession. Full article

Background: The aim of this prospective longitudinal observational study was to assess respiratory muscle function after surgical correction of scoliosis in individuals with spinal muscular atrophy (SMA). Material: The study included 20 patients (aged 7–19) with scoliosis in the course of neuromuscular disease, eligible for surgical treatment with diagnosed SMA Type 2 or 3. Methods: Measurements were taken of the maximal inspiratory pressure (MIP) [cmH₂O] and the maximal expiratory pressure (MEP) [cmH₂O] in all patients immediately before surgical correction of scoliosis (measurement I), 7 days after surgery (measurement II) and 3 months after surgery (measurement III). Results: The mean Cobb angle of spinal curvature measured before surgery in the entire group was 102.57 ± 17.96. The mean MEP values in the entire group of patients were 40.48 ± 11.76 cmH₂O before surgery, 36.74 ± 17.17 cmH₂O after 7 days, and 39.17 ± 16.18 cmH₂O 3 months after surgery. The MIP values for the entire group were 64.35 ± 28.40 cmH₂O before surgery, 53.96 ± 28.66 cmH₂O after 7 days, and 67.00 ± 31.27 cmH₂O after 3 months. Conclusions: Surgical correction of spinal curvature creates conditions for maintaining respiratory muscle strength in patients with SMA over a period of several months of observation. As a result of the surgical intervention, respiratory muscle strength did not deteriorate, but even slightly increased. Full article

Background: The humanization of care is increasingly recognized as a core component of healthcare quality; however, its meaning remains complex and strongly shaped by organizational, professional, and educational contexts. Nursing students, as future healthcare professionals, play a crucial role in the development and transmission of humanized care values, making their representations of the humanized hospital particularly relevant for understanding how these values are constructed during professional education. Aim: To explore how undergraduate nursing students conceptualize the humanized hospital. Methods: A qualitative exploratory study was conducted involving 742 undergraduate nursing students enrolled in a Bachelor of Science in Nursing program in Italy. Data were collected through a single open-ended written question inviting students to describe how they imagine a humanized hospital. Textual data were analyzed using Automatic Analysis of Textual Data within an Exploratory Multidimensional Data Analysis framework, enabling the identification of shared lexical patterns, discursive clusters, and latent semantic dimensions within a large textual corpus. Findings: Students articulated the humanized hospital as an integrated and system-oriented care environment in which relational, organizational, professional, and holistic dimensions are deeply interconnected. Humanization was associated not only with empathy, respect, and emotional engagement, but also with organizational functioning, teamwork, adequate resources, and professional competence. Two latent dimensions structured these representations: the first highlighted organizational systems as enabling conditions for person-centered care, while the second framed professional operability and technical competence as foundations for a holistic understanding of patients’ physical, psychological, and social well-being. Conclusions: Undergraduate nursing students’ discourse revealed an articulated and multidimensional representation of hospital humanization, conceptualizing it as an emergent property of healthcare environments rather than as a function of individual attitudes alone. These findings underscore the importance of addressing hospital humanization simultaneously at relational, educational, and organizational levels and highlight the need for nursing education programs and healthcare institutions to foster structural and professional conditions that sustainably support humanized care in clinical practice. Full article

Background/Objectives: Workplace violence (WPV) is a major occupational concern in psychiatric settings, where mental health nurses (MHNs) are consistently identified as a high-risk professional group. Within this context, sexual violence (SV) remains understudied as a distinct phenomenon and is often embedded within aggregated measures of WPV. This systematic review aimed to synthesize the available evidence on SV against MHNs working in inpatient settings by: (1) describing its prevalence, forms, and characteristics; (2) examining psychological, occupational, and physical outcomes; and (3) identifying associated risk factors. Methods: This systematic review was conducted in accordance with PRISMA guidelines and registered in PROSPERO (CRD420251103606). A literature search was performed across PubMed, CINAHL, Scopus, Web of Science, and PsycInfo, supplemented by reference list checking and citation tracking. Peer-reviewed quantitative and qualitative studies published in English or Italian were eligible if they involved MHNs working in inpatient settings and addressed SV. Study selection, data extraction, and risk-of-bias assessment were conducted independently by two reviewers. A narrative synthesis following SWiM guidance was undertaken, and the certainty of evidence for statistically significant outcomes was assessed using the GRADE approach. Results: Twenty-five studies published between 2003 and 2025 were included. Definitions of SV varied substantially. Reported prevalence ranged from 0% to 68%, with verbal sexual harassment ranging from 19.5% to 53.4%, physical sexual harassment ranging from 14% to 42.9%, and sexual assault up to 18.6%. Evidence indicated associations between SV exposure and poorer quality of life, burnout, and days lost from work. The main risk factors included gender, age, education, work experience, employment type, acute psychiatric settings, night shifts, normalization of violence, and history of physical and sexual violence. Conclusions: SV against MHNs represents a relevant issue in psychiatric settings. Findings suggest significant psychological and occupational consequences. Standardized definitions and measurement, longitudinal research, and intervention studies are needed to inform effective prevention strategies and organizational responses. Full article

Background/Objectives: Primary metabolic diseases including mitochondrial encephalomyopathies (ME), glycolytic enzymopathies, and disorders of lipid and amino acid metabolism can manifest with severe neurological and neuromuscular symptoms. Conversely, it is increasingly appreciated that primary neurodegenerative diseases can have metabolic etiology and pathophysiology. Pharmacological treatments have limited benefit for these classes of diseases, but dietary therapy is increasingly recognized as a tool for bolstering metabolic processes that can ameliorate neurological symptoms. The ketogenic diet is the best-established example, having long been used as a therapy for epilepsy. Replenishing metabolic intermediates (anaplerosis) especially substrates of the citric acid cycle (CAC) is currently being explored, with ongoing clinical trials of simple metabolic intermediates such as oxaloacetate or NAD+ to treat neurodegenerative diseases. We have shown ketogenic and anaplerotic therapies to be effective in a Drosophila model of ME; however, the full therapeutic potential and role of the CAC in neuronal health is still not well understood. Methods: Here, we have used genetic, behavioral, and dietary approaches to elucidate critical links between the CAC and neurological function. Results: We have found that stimulating the CAC can improve and sustain neurological health in the face of severe metabolic disease, and that its functions include a previously unrecognized role in maintaining normal circadian rhythms, whose disruption is often an early indicator or complicating factor in neurological and neurodegenerative disease. We investigated the hypothesis that the production of GTP by the CAC may be an important mechanistic contributor to the role of the CAC in neurological health and disease, and may underlie its therapeutic potential. Conclusions: Overall, our findings expand our understanding of the role of the CAC in neurological health and disease, support its development as a therapeutic target, and provide a foundation for further studies investigating the intersection between neurological disease and metabolic function. Full article

Intensive care units (ICUs) are among the most resource-intensive healthcare settings and represent a strategic priority for environmental sustainability policies. While technological solutions are increasingly promoted, sustainable practice in ICUs also depends on nurses’ knowledge, attitudes, and behaviors, which remain insufficiently studied using validated, context-specific tools and longitudinal designs. This research protocol describes a multi-phase, theory-driven study aimed at developing and validating the Knowledge, Attitudes, and Behaviors Questionnaire on Environmental Sustainability in Intensive Care Units (KABQES-ICU) and at evaluating the longitudinal impact of a structured sustainability training program. Phase 1 focuses on instrument development and psychometric validation, grounded in a conceptual framework integrating individual, psychological, and organizational determinants and informed by qualitative evidence from ICU nurses. Phase 2 consists of a longitudinal intervention study assessing changes in sustainability-related competencies and their effects on nurse, patient, caregiver, organizational, and environmental outcomes. This protocol is designed to generate robust evidence to support the integration of sustainability into ICU quality improvement strategies and health policy frameworks without compromising patient safety. Full article

Background: Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition influenced by both genetic and non-genetic factors, although the underlying pathomechanisms remain unclear. We systematically analyzed microRNA (miRNA) expression and associated functional pathways in ASD to evaluate their potential as prenatal/postnatal, diagnostic, and prognostic biomarkers. Methods: Peripheral blood mononuclear cells from 12 Sicilian patients with ASD (eight with normal cognitive function) and 15 healthy controls were analyzed using small RNA sequencing. Differential expression analysis was performed with DESeq2 (|fold change| ≥ 1.5; adjusted p ≤ 0.05). Functional enrichment and network analyses were conducted using Ingenuity Pathway Analysis, focusing on Diseases and Biofunctions. Results: 998 miRNAs were differentially expressed in ASD, 424 upregulated and 553 downregulated. Enriched pathways were primarily associated with psychological and neurological disorders. Network analysis highlighted three principal interaction clusters related to inflammation, cell survival and mechanotransduction, synaptic plasticity, and neuronal excitability. Four miRNAs (miR-296-3p, miR-27a, miR-146a-5p, and miR-29b-3p) emerged as key regulatory candidates. Conclusions: The marked divergence in miRNA expression between ASD and controls suggests distinct regulatory patterns, thus reinforcing the central involvement of inflammatory, autoimmune, and infectious mechanisms in ASD, mediated by miRNAs regulating S100 family genes, neuronal migration, and synaptic communication. However, rather than defining a predictive biomarker panel, this study identified candidate miRNAs and regulatory networks that may be relevant to ASD pathophysiology. As such, further validation in appropriately powered cohorts with predictive modeling frameworks are warranted before any biomarker or diagnostic implications can be inferred. Full article

Background: Humanitarian surgical missions play a critical role in addressing health disparities, particularly in low-resource settings where conditions such as cleft lip and palate (CL/P) are prevalent. The success of these missions relies heavily on the commitment of volunteers, including healthcare professionals and logistical personnel. While their contributions are widely acknowledged, the psychological and emotional impact of participating in such missions remains underexplored. Objective: This study protocol aims to explore the lived experience of volunteers involved in humanitarian surgical missions. Materials and Methods: A qualitative study, using Interpretative Phenomenological Analysis (IPA), will be conducted. Semi-structured interviews will be carried out with volunteers who have participated in at least one humanitarian surgical mission. Interviews will be audio-recorded, transcribed verbatim, and analyzed to identify emerging themes. Data collection will continue until saturation is reached. The reporting of this study will follow the COREQ guidelines. Expected Results: This study is expected to provide a deeper understanding of the emotional and professional experiences of volunteers in surgical missions. Expected results include identifying key themes related to motivation and preparation, on-site engagement, field experience, interpersonal relationships and group dynamics, and personal reflections. These results will inform strategies to enhance the effectiveness of missions, improve volunteer support, and ensure the sustainability of humanitarian interventions. Additionally, these findings will contribute to the broader field of international health volunteering and support future program development. Conclusions: This protocol outlines a rigorous qualitative approach to investigating the lived experience of volunteers in humanitarian surgical missions. The anticipated findings are expected to inform targeted training, psychological support, and organizational strategies, ultimately improving the effectiveness and sustainability of future missions and the well-being of volunteers. Full article