Advances in experimental medicine and biology最新文献

Introduction: Organ transplantation is a complex process and one of the most advanced procedures for patients suffering from end-stage liver disease. Transplant Life (TL) has been described as uncertainty, adjustment to later life, and body reclamation. This qualitative study explores the experiences of TL post-liver transplantation among adult individuals in Greece, as such research is pivotal in stepping into their world, but still scarce.

Aim: To investigate the experience and challenges of TL post-liver transplantation.

Methods: A phenomenological study where 12 adult participants shared their TL experiences after liver transplantation through semi-structured interviews, which were transcribed, coded, and subjected to the thematic analysis approach of Braun and Clarke. This paper presents the findings of a secondary data analysis.

Findings: The participants described TL post-liver transplantations as a transformative experience. The core theme "The lived experience of transplant life: reconstructing identity and managing a transformed body" comprised of five sub-themes: (a) Life and Reality: "finding myself in a new reality," (b) Selfhood and Others: "I am reborn, though afraid," (c) Managing a Transformed Body: "treasuring my liver transplant/graft," (d) The before and during transplantation experience: "will I wake up?," and (e) The Return to Life: "I am grateful."

Conclusions: The participants described their experience as one of growth and body reclamation, resilience, navigation through risks, acceptance and uncertainty, identity reconstruction, and body transformation through a transplanted organ.

Abdominal aortic aneurysm (AAA) is one of the leading causes of death worldwide. Considering that most AAAs remain asymptomatic until they are close to rupture, an efficient workflow for the accurate detection and delineation is crucial for the clinical outcome. In this study, we conduct a comparative analysis of two different AAA segmentation algorithms using X-ray Computed Tomography (CT) images from 18 patients diagnosed with AAA, which have not been used in similar studies before. The methodologies employed include an in-house segmentation algorithm based on conventional image analysis techniques, and a deep learning approach based on the nnU-Net -framework called TotalSegmentor. The CT dataset, which contained baseline studies, was processed, and the manual annotations by clinicians were used as ground truth. Results demonstrated a high degree of accuracy and robustness, with TotalSegmentor achieving an average Sorensen-Dice coefficient of 0.89 and Jaccard index of 0.81 across the dataset, compared to the proposed unsupervised method's scores of 0.85 and 0.77, respectively. These findings highlight the potential of deep learning-based models to enhance clinical workflows, ultimately improving early detection and monitoring of AAA.

Alcohol use disorder (AUD) often coexists with psychiatric disorders, complicating treatment and outcome. This pilot study highlights the psychiatric disorders that co-exist with AUD in 403 consecutive admissions to a short-term residential program of the Psychiatric Hospital of Attica, Greece. Clinical and demographic data for these patients were systematically recorded and analyzed. Subsequently, patients diagnosed with at least one other psychiatric disorder were identified and categorized. Notably, approximately 87% of the patients were diagnosed with at least one comorbid psychiatric disorder, with comorbidities reported for Substance Use Disorders, Personality Disorders, Major Depressive Disorder, Anxiety Disorders, Bipolar Disorder, Eating Disorders, and Schizophrenia. The findings indicate that the majority of patients with AUD in this program exhibit at least one additional psychiatric disorder, consistent with trends observed in the international literature.

Aim: This literature review seeks to provide a comprehensive overview of the concept of gender incongruence, addressing various aspects of the phenomenon through multiple perspectives.

Methodology: Eligible studies were sought in Google Scholar, Scopus, and PubMed databases (end-of-search May 15, 2024).

Results: Global prevalence rates, the experience of the young population, workplace equity, the controversial issues of gender transition and detransition are thoroughly presented.

Discussion: Gender dysphoria remains a highly contentious subject, even in 2024. Despite ongoing societal and scientific advancements, there remains a notable lack of awareness and comprehensive understanding of gender incongruence. Future research must strive to employ updated and inclusive methodologies while developing robust scientific frameworks to support individuals undergoing gender transitions.

Oral health is increasingly recognized as an important factor in the regulation of systemic immune responses and neurological health. Disruption of immune homeostasis in oral tissues, particularly in chronic conditions such as periodontitis, has been linked to the development and progression of neurodegenerative diseases, such as Alzheimer's disease (AD), Parkinson's disease (PD), and multiple sclerosis (MS). This chapter explores how chronic inflammatory conditions in the oral cavity, oral dysbiosis, and the presence of specific periodontopathogens contribute to systemic immune activation, microglial priming, and blood-brain barrier dysfunction. The discussion addresses multiple mechanistic pathways underlying these relationships, such as hematogenous spread of microbial components with subsequent systemic immune stimulation, neural signaling via trigeminal and vagal pathways, and alterations in gut-brain communication through the integrated oral-gut-brain axis. The chapter also reviews findings from clinical and experimental studies demonstrating correlations between oral inflammation and cognitive impairment, structural brain alterations, and elevated inflammatory and neurodegenerative biomarkers. Oral health disturbances are considered not only as secondary outcomes of neurological disease but also as a potential contributing factor in their pathogenesis. The emphasis is on the importance of incorporating oral health assessment and maintenance into preventive and therapeutic strategies for neurodegenerative conditions, while highlighting the necessity for well-designed mechanistic investigations to further explain these complex relationships.

The oral immune system functions as a primary line of defense, composed of oral epithelial barriers, salivary antimicrobial factors, and various innate and adaptive immune components to prevent pathogen entry. Resident immune cells in oral tissues help maintain tolerance to commensal microorganisms while simultaneously responding to harmful external stimuli and contributing to systemic immune regulation. This chapter provides a comprehensive overview of the immunological components and their functions in the oral cavity, emphasizing the dual role of maintaining tolerance to commensal microbes and dietary antigens while initiating protective responses against pathogens. Any disruptions in this balance, such as oral dysbiosis or immune dysregulation, can lead to the development of local inflammatory conditions; it may also contribute to systemic immune disturbances and related pathologies. Immune mechanisms also regulate craniofacial development and postnatal bone remodeling and regeneration, mainly through cytokine-mediated signaling pathways and interactions between stem cells and immune cells. Several local and systemic immunological pathways are often dysregulated in oral inflammatory conditions, which makes them important therapeutic targets. Therapeutic strategies targeting these pathways include immune checkpoint inhibitors, microbiome-directed interventions, stem cell-based therapies, and salivary diagnostics for real-time and noninvasive immune profiling. These offer promising approaches for restoring oral and systemic immune balance. Finally, this chapter has reviewed recent technological advances, such as single-cell RNA sequencing (scRNA-seq), spatial transcriptomics, metagenomics, and multi-omics integration, in the context of oral immunity. These novel techniques are transforming oral immunology, since they enable high-resolution characterization of cellular, microbial, and molecular interactions, and support the transition toward establishing more precise diagnosis and treatment plans. These findings suggest that oral immunity plays a critical role in linking local mucosal defense and systemic immune responses. Therefore, understanding oral immune mechanisms in health and inflammatory conditions is important for revealing disease pathogenesis and guiding targeted interventions.

This chapter explores the role of salivary immune and endocrine biomarkers in diagnosing and managing skin and mucocutaneous diseases. These conditions, including allergic, inflammatory, and autoimmune disorders, often present complex diagnostic and therapeutic challenges. Salivary biomarkers offer a promising alternative to traditional blood-based diagnostics, due to their non-invasive sampling method and the ability to reflect both local and systemic immune responses. Key biomarkers, such as cytokines, immunoglobulins, and stress-related hormones, have been identified in saliva and show associations with conditions such as atopic dermatitis, psoriasis, systemic lupus erythematosus, and oral lichen planus. Advancements in salivary diagnostics underscore the potential of biomarkers like IL-17, TNF-α, and cortisol for disease monitoring and personalized treatment approaches. Despite significant progress, challenges remain in standardizing these biomarkers across heterogeneous populations and in implementing cost-effective diagnostic tools into routine clinical practice. Further research is essential to validate the clinical application of these markers, develop reliable point-of-care devices, and design integrated biomarker panels that support early intervention and improve patient outcomes. The growing field of salivary proteomics and exosomal analysis heralds a transformative future for non-invasive, precision-based dermatological diagnostics.

The subgingival environment is a unique ecological niche where host-microbe interactions continuously occur, ultimately determining the balance that characterizes periodontal health or the disequilibrium featured in periodontal diseases. Importantly, knowledge of the subgingival microbiome has expanded dramatically due to the extensive use of next-generation sequencing techniques in both periodontal health and diseases, making it necessary to summarize and contextualize evidence from these types of studies. Consequently, this chapter first explores the anatomical and histological characteristics of the subgingival area and provides an overview of the microbial communities and immune surveillance mechanisms unraveling in this space and during periodontal health. Then, focus is placed on better defining periodontal inflammation as a main driver of microbial dysbiosis during disease. The subgingival microbiome in gingivitis and periodontitis is further analyzed, focusing on the environmental changes triggered by periodontal inflammation, as inflammation and tissue destruction lead to dramatic environmental changes that are associated with distinct microbial shifts. The microbial transition from health to gingivitis is explored in detail, discussing evidence stemming from studies dedicated to natural and experimental gingivitis. Finally, the dynamics of subgingival microbial communities in periodontitis and their connection with inflammation are explored, acknowledging the bidirectional nature of this relationship and highlighting its importance in determining health and disease in this setting.

Inborn errors of immunity (IEIs) are genetic disorders that impair immune defense and regulation, increasing susceptibility to infections, including those in the oral cavity. The oral microbiota plays a vital role in maintaining oral health, and in pediatric patients with IEIs, disruptions in this balance can lead to dental caries and other oral diseases. This chapter provides a comprehensive analysis of the relationship between immune deficiencies and oral microbiota dysbiosis, focusing on dental caries in children with IEIs. Omics technologies, particularly metagenomics, have enhanced understanding of the microbial diversity and metabolic activities within the oral microbiota of the patients. Key findings reveal that compromised immune responses in children with IEIs disrupt the balance of oral bacteria, making them more prone to dental caries. The chapter highlights the importance of an interdisciplinary approach, integrating microbiology, immunology, dentistry, and bioinformatics, to uncover the complex interactions between the oral microbiome and the immune system. The insights gained from this research will contribute to the development of personalized therapeutic strategies, improving the dental and overall health of pediatric patients with IEIs.

Background: The most common genetic cause associated with thrombophilia is Leiden mutation (G1691A) of the coagulation factor V (FV) (F5) gene.

Materials and methods: Data collected anonymously from 355 unrelated Greeks examined for the above mutation were analyzed. Bioinformatic investigation was conducted for factor V, including phylogenetic analysis, genetic network analysis, and 3D modelling of wild-type and Leiden protein.

Results: Analysis confirmed the importance of F5 Leiden in thrombosis and the significance of a positive family history of thrombosis. In silico analysis of the F5 Leiden revealed a linkage between mammalian species and a potential functional interaction of F5 with 25 other genes, several of which have been associated with cardiovascular diseases. 3D modelling revealed that the Leiden mutation confers an H-bond network alteration in the functional region of FV, resulting in a hypercoagulable state.

Conclusions: This study highlighted the great value of a positive family history of thrombosis and the importance of testing for this common mutation as a prevention strategy component for thrombophilia, including thrombotic brain aneurysms. Bioinformatic analysis indicated the importance of the Leiden mutation in protein structure and function. The findings of this study increase understanding of molecular and clinical features of thrombophilia and may eventually lead to better prevention of thrombosis.