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This study aspired to provide comprehensive real-world data on a population with heart failure in the Moravian region of the Czech Republic. The authors compared local clinically relevant data with those from the ground-breaking Paradigm-HF trial and they found that local patients had a more advanced state of heart failure. The high prevalence of implantable cardioverter-defibrillators (ICD) and cardiac resynchronization therapy (CRT) confirms access to advanced and financially demanding treatment options in this region.

An observational study evaluating the safety and efficacy of thoracoscopic ablation of atrial fibrillation in the single-center experience. The cohort consisted of 81 patients suffering from some form of atrial fibrillation, undergoing thoracoscopic ablation either as a single method of treatment or as a part of the hybrid protocol where catheter ablation was suplemented later.

This review provides an updated overview of emerging immune-based therapies for oropharyngeal malignancies, particularly those associated with HPV infection. It summarizes current evidence on checkpoint blockade, engineered T-cell approaches, monoclonal antibodies, and therapeutic vaccination strategies, while discussing their clinical relevance and translational potential. The article further evaluates the influence of viral biology, tumor microenvironment, and predictive biomarkers on therapeutic response. Key limitations, including resistance and immune escape, are also highlighted, together with future opportunities for individualized and combination-based treatment strategies in head and neck oncology.

Background and Aim. Vitamin D deficiency is linked to increased cancer risk and death but the effect of vitamin D substitution on the prognosis of patients with malignant disease is debatable. We aimed to investigate the value of serum vitamin D3 levels in patients with a history of malignancy and confirmed lung metastases. Materials and Method. Serum Vitamin D2 (25-hydroxyergokalciferol) and D3 (25‑hydroxycholekalciferol) levels were measured in 38 patients (28 with and 10 without lung metastases) using high performance liquid chromatography (HPLC). Serum Vitamin D2 + D3 levels of patients with lung metastases were analysed with respect to season, number of metastases, number of malignancies in the history, value according to the ASA (The American Society of Anaesthesiologists) physical status classification, and compared to patients with a history of malignancy without confirmed lung metastasis. Results. Overall, mean serum vitamin D3 levels were significantly higher in summer (summer vs. winter; 85.06 nmol/L vs. 61.01 nmol/L; P=0.013). There was no significant difference in vitamin D3 levels in summer or winter between patients with or without lung metastases. There was also no significant difference in vitamin D3 levels in the summer months between patients with a history of one malignancy versus those with two or more. In winter however, patients with a history of one malignancy had significantly higher vitamin D3 levels (mean, 75.25 nmol/L) than those with two or more malignancies (mean 44.6 nmol/L) (P=0.027). The differences between vitamin D3 levels in patients with ASA 2 and 3 were not statistically significant. Conclusion. Vitamin D supplementation may be advisable for patients with a history of multiple malignancies, particularly during the winter months. However, confirmation in a clinical trial with a larger patient cohort is warranted before firm recommendations can be made.

Amyloidosis represents a clinically and molecularly heterogeneous group of serious, potentially life-threatening disorders characterized by the extracellular deposition of insoluble amyloid fibrils derived from misfolded precursor proteins. These deposits disrupt tissue architecture and function, often affecting vital organs such as the heart and kidneys. Accurate diagnosis and subtyping of amyloidosis are essential for effective clinical management and personalized therapeutic interventions. This review provides an integrated overview of modern approaches to the laboratory diagnosis of amyloidosis, divided into three main areas: (1) histological and immunological methods (including Congo red staining, immunohistochemistry, immunofluorescence, and immunoelectron microscopy) for the initial detection and characterization of amyloid deposition, (2) electrophoretic techniques (capillary electrophoresis, isoelectric focusing, immunofixation electrophoresis) used primarily for the analysis of amyloid-associated proteins in serum and urine, and (3) mass spectrometry-based proteomic analyses that have significantly improved subtype specificity and clinical decision-making. By emphasizing the complementary roles of these techniques, the review aims to support timely, accurate, and subtype-specific diagnosis, ultimately improving clinical outcomes and treatment strategies for patients affected by amyloidosis.

Aim. The recurrence rate of colorectal cancer remains high even after radical surgery. Existing criteria for administering adjuvant treatment lack sufficient precision, often leading to undertreatment or overtreatment. This study investigates circulating tumour cells (CTCs) as a potential prognostic biomarker to improve the accuracy of patient selection. Methods. Forty-six colorectal cancer patients without distant metastases who underwent radical surgery were enrolled in this prospective study conducted at Tomas Bata Hospital in Zlín. The study protocol was approved by the hospital's Ethics Committee. Circulating tumour cells (CTCs) were measured in peripheral blood samples collected preoperatively, on the second postoperative day, and one month after surgery. CTCs were detected and characterized using semiautomated microscopy. Comprehensive clinicopathological data were recorded as part of standardized perioperative care. The prognostic significance of CTCs was evaluated based on the time to recurrence (TTR) parameter. Results and Conclusion. Growing evidence from circulating tumour cell (CTC) research supports their potential role as a valuable biomarker in cancer management. In this study involving stage I-III colorectal cancer patients, a recurrence rate of 20% was observed among individuals with detectable CTCs, whereas no recurrence occurred in patients with a sustained absence of CTCs. Despite this apparent difference, the time to recurrence (TTR) did not differ significantly between the groups (log-rank test, P=0.175). Although the result was not statistically significant, the observed trend suggests a possible prognostic value of CTCs that merits investigation in a larger cohort. Furthermore, neither individual time-point measurements nor dynamic changes in CTC levels demonstrated a significant correlation with TTR.

This is an overview and case series on smell testing in Parkinson's disease as olfactory dysfunction is viewed as an early indicator of this disease. The authors tested olfaction both subjectively and objectively: psychophysical tests are commonly used but these tests may be inaccurate and difficult in patients with Parkinson's disease with cognitive deficits in addition to motor symptoms. Objective electrophysiological olfactory tests are important. These are the olfactory/trigeminal event-related potentials (OERPs/TERPs). In this overview, the authors also describe a series of cases that demonstrate the importance of complex smell tests.

Purpose. To report the approach, technical success, safety, and short-term outcomes of thoracic duct stenting for treating chylothorax and chylous ascites in a patient with Yellow Nail Syndrome. Case report. A 57-year-old male with Yellow Nail Syndrome, characterized by yellow thickened nails, lymphedema, and respiratory abnormalities, required repeated thoracocenteses for chylothorax. A thoracic duct intervention involving percutaneous transluminal angioplasty and balloon-expandable stent implantation via retrograde access was performed. Procedure characteristics, clinical success, complications, and follow-up were recorded. Conclusions. Thoracic duct stenting was a safe and technically successful procedure. After the procedure, the patient was relieved of symptoms. This technique could be considered for patients with recurrent chylothorax and chylous ascites, including those with Yellow Nail Syndrome. Further research is required to validate these findings.

Introduction. Human skin is constantly exposed to various agents causing oxidative stress. In response, skin cells can activate transcriptional nuclear factor erythroid 2-related factor 2 (Nrf2), which influences the expression of several protective genes. However, accumulating evidence suggests severe adverse effects of chronic Nrf2 activation. Phytochemicals are popular for supporting skin health. Some are potent Nrf2 inducers and their long-term use may be hazardous. Silymarin (SM), an extract from Silybum marianum fruits, and its major flavonolignan silybin (SB) are used in cosmetic formulations for their protective and regenerative activities. However, knowledge about their potential to modulate Nrf2-driven pathway in skin cells or tissue is lacking. Methods. Here we evaluated effects of SM, SB, silychristin (SC), silydianin (SD), isosilybin (ISB) and 2,3-dehydrosilybin (DHSB) and taxifolin (TA) on Nrf2 nuclear translocation, the level of Nrf2-control proteins (Keap1 and Bach1) and selected Nrf2-driven genes (NAD(P)H:quinone oxidoreductase 1 and heme oxygenase 1) in human primary fibroblasts and keratinocytes. Results. SM and its components significantly stimulated Nrf2 nuclear translocation; SM and SB were most potent on both cell types. The effect of SM and compounds was more pronounced in fibroblasts than on keratinocytes. Regardless, effects of SM and studied compounds on the Nrf2 regulating and Nrf2-controled proteins were non-significant. Conclusion. SM and its components do not have a significant effect on the studied proteins, and seem to be safe with respect to possible negative effects associated with the Nrf2 signalling pathway activation during dermal application. However, we cannot give a definitive answer on their effect after repeated long-term application to the whole skin. Further experiments on human skin ex vivo or clinical studies on volunteers are necessary.

The aim of the study was to evaluate the association of cardiac biomarkers levels with the parameters of cardiac structure and function in the patients with arterial hypertension. Patients with arterial hypertension, normal left ventricular ejection fraction and absence of signs of heart failure were included in the study. Biomarker of cardiac remodeling (NT-proBNP) correlated with the parameters of left ventricular diastolic function and biomarkers involved in myocardial fibrosis (sST2) correlated with parameters of cardiac structure and were associated with left ventricular hypertrophy (sST2 and TIMP-1).

The prevalence of multimorbidity, defined as the presence of at least two chronic diseases, is increasing in both the general population and among patients with rheumatic conditions. This study provides insight into the prevalence of multimorbidity in one of the most frequent systemic autoimmune disorders, systemic lupus erythematosus (SLE). This chronic inflammatory autoimmune disease is characterised by the involvement of multiple organs due to both the disorder itself and the frequent comorbidities that are associated with the underlying disease process. These factors have the potential to affect the quality of life, treatment options, healthcare utilisation and overall patient prognosis.

Aims. Angiogenesis is activated in the retina of diabetic patients with retinopathy complications. Vascular endothelial growth factor (VEGF) plays an essential role as a mediator of the retinal induced neovascularization. VEGF levels are increased significantly in the vitreous and aqueous ocular fluids in the patients with proliferative diabetic retinopathy. The aim of this study is to investigate whether VEGF promoter/5'UTR polymorphisms are associated with diabetic retinopathy (DR) development and/or severity. Methods. In this case-control study, Type 2 diabetic patients with or without DR, and normal controls were recruited. DR was classified based on the presence or absence of proliferative changes. The genotyping was analysed by polymerase chain reaction followed by restriction fragment length polymorphism. Results. A total of 259 subjects (172 with diabetes+DR, 87 healthy controls; male:female, 125:134) were recruited. The average age was 59.5+9.6 years, diabetes duration was 8.5+4.5 years, body mass index was 30.6+6.0 kg/m2, and HbA1c was 7.37+1.2% (57 mmol/mol). Significant differences in the distribution of genotypes in T(-1,498)C, G(-1,190)A and G(-1,154)A polymorphism in diabetic patients versus controls, and DR patients versus DM without DR patients were shown. No association between DR severity and polymorphisms was detected. Non-significant differences in allele frequency were found. The haplotypes TGAGC, TGACT and CAGCT were significantly increased in DM patients, whereas CGGCC was the most common haplotype in DR patients. Conclusions. Multiple VEGF polymorphisms and CGGCC haplotype are significantly correlated with a higher DR risk in Type 2 diabetic patients.

Aims. This study evaluates the feasibility of an artificial intelligence (AI)-assisted software tool for early identification and classification of chronic wounds and for supporting decisions on whether professional clinical review is needed. Methods. A pilot assistive software solution was developed by integrating wound image analysis with patient-reported metadata. The system combines You Only Look Once (YOLO) for wound localization and U-Net for tissue segmentation. A standardized wound imaging and annotation protocol was designed in collaboration with the University Hospital Bulovka. Diagnostic performance will be evaluated using sensitivity, specificity, positive predictive value and negative predictive value. Results. A Python-based prototype and a multimodal software architecture were developed. More than 500 standardized wound images have been collected to date, and the dataset is being expanded iteratively according to model performance, class balance, annotation quality and validation requirements. A regulatory certification strategy was outlined under the Medical Device Regulation and the AI Act. Conclusion. The study establishes a technical and regulatory foundation for future AI-based wound care tools intended to support earlier triage and professional assessment of chronic wounds.

A rapid LAMP-LFD method was developed by combining the loop-mediated isothermal amplification technique and lateral flow device for the detection of Vibrio parahaemolyticus. By improving the specificity and sensitivity of Vibrio parahaemolyticus detection, it provides a rapid and convenient detection method for field and grass-roots units. To provide a new method for the diversity of Vibrio parahaemolyticus detection methods. It has promising  applications  in the detection of Vibrio parahaemolyticus at the basic level.

There is a current need to better stratify patient prognosis following histological evaluation for prostate cancer in order to optimise therapy decisions. In this article, the authors provide an overview of some recently discussed putative prognostic markers. These include the immunohistochemical stains PSA, PSMA, Ki67, PD-L1, CDK19, PTPN12, EZH2 and E-cadherin and the genes TMPRSS2:ERG, SPOP, IDH-1, PTEN, TP53, RB1, CHD1 and SPINK1, the androgen receptor, BRCA1 and BRCA2, ATM, MYC and CCND1. The results are not easy to interpret due to wide variations in a number of key variables. Overall, the Gleason score is still the most widely used and most validated of the prognostic markers. Ki67 and PTEN are the most promising.

Given the constant need to improve primary prevention and prediction of stroke, the aim of this mini review was to introduce the glycopeptide copeptin, which, according to available studies, shows significant potential in the diagnosis and prognosis of various diseases, including cerebrovascular events. In this regard, copeptin could become a valuable biomarker in clinical practice. It could be used as one of the prognostic and predictive biomarkers in the course of cerebrovascular events, their clinical outcome, and predicting their recurrence. This mini review includes a brief overview of the physiology of copeptin, its role in emergency care for selected cerebrovascular events with a focus on ischemic strokes, and its influence through vascular risk factors.

Background. Obstructive sleep apnea (OSA) is a known risk factor for cardiovascular (CV) morbidity and mortality. Chronic low-grade inflammation has been identified as a pathophysiological link. Continuous positive airway pressure (CPAP) therapy successfully treats OSA and has positive effects beyond improving breathing patterns during sleep. However, its potential impact on CV morbidity and mortality remains unclear. Objectives. To determine the association between CV risk, the risk of incident malignancies, and the probability of patient death based on inflammatory parameters, anthropometry and OSA severity parameters, as well as the effectiveness of CPAP therapy. Methods. We retrospectively analyzed data from 245 patients diagnosed with moderate-to-severe OSA, identified as having an apnea-hypopnea index ≥ 15/h. Adherence was defined as CPAP use ≥ 4 h/night for ≥ 70% of days. We assessed CV history, mortality, polysomnographic data and inflammatory parameters (C-reactive protein, leukocyte count, neutrophil-to-lymphocyte ratio [NLR], monocyte-to-lymphocyte ratio, and platelet-to-white blood cell ratio). Univariate and multivariate logistic regressions were used to identify independent predictors of CV outcomes, malignancy incidence and death within 10 years. Results. Patients poorly adhering to CPAP therapy (39.2%) had significantly higher rates of CV complications (32.8% vs. 15.1%, P = 0.003), malignancies (19.7% vs. 8.3%, P = 0.018), and mortality (14.6% vs. 4.0%, P = 0.003). Non-adherence was a strong independent predictor of CV complications (odds ratio [OR] = 2.75, P = 0.004) and death (OR = 4.07, P = 0.006). In univariate analysis, age, non-adherence, and NLR were significantly associated with the risk of incident malignancy (P = 0.022-0.008); NLR was also significant in multivariate analysis (P = 0.008). The t90 index (time spent below 90% oxygen saturation) was an independent predictor of mortality (OR = 1.03, P = 0.003). Conclusions. Non-adherence to CPAP therapy is associated with an increased risk of CV complications, malignancies and death in OSA patients. Inflammatory markers and desaturation parameters (particularly t90) are valuable predictors that should be monitored in routine practice to identify high-risk patients. Implementing strategies to improve CPAP adherence may reduce long-term systemic inflammation and clinical risks.

The manuscript describes the protocol for a prospective study evaluating the relationship between carotid stenosis and retinal oxygen metabolism. Carotid stenosis is a major cause of ischaemic stroke worldwide. Retinal oximetry imaging of retinal blood vessels is noninvasive and capable of direct examination of the post-stenotic blood flow. It may be useful in differentiating high and low risk stenosis of the same severity. The results will yield more information about adaptive changes in the post-stenotic basin and may reveal mechanisms behind larger ischaemic deficits in some stroke patients. Previous studies have demonstrated that retinal blood flow is affected in a variety of eye and systemic diseases, including diabetic retinopathy, age-related macular degeneration, and glaucoma.

This study explores the use of uterine artery embolization (UAE) in patients with postpartum hemorrhage caused by placenta accreta spectrum (PAS) disorders. The procedure was performed after conservative treatments failed, aiming to control bleeding and reduce the need for more invasive surgeries. UAE successfully improved symptoms in the majority of patients, with no major complications during or after the procedure. Follow-up showed no recurrence of bleeding. The results suggest that UAE is a safe and effective treatment option for managing PAS-related hemorrhage, offering a less invasive alternative to surgical interventions.

This article provides a synthesis of key clinical trials on device-based therapy in heart failure within the context of the current trend toward personalized medicine. Its main contribution is the proposal of a novel decision-making algorithm that integrates risk stratification based on underlying etiology, electrophysiological and functional parameters, as well as prognostic indicators including current non-invasive methods. The review also reflects current developments in clinical practice, including the growing role of physiological pacing, and supports an individualized approach to improving patient prognosis and quality of life.

Objective. This study aimed to explore the independent causal relationship between three types of crystallin proteins (α, β, and γ) and risk of cataract, using single nucleotide polymorphisms (SNPs) as instrumental variables for α, β, γ crystallin through Mendelian randomization (MR) analysis. Methods. Genetic instruments associated with α, β, γ crystallin levels and cataract were obtained from the IEU Open GWAS Project (GWAS IDs: prot-a-673, prot-a-674, prot-a-675, and ukb-d-20002_1278). Two-sample MR analyses were conducted using five different MR algorithms containing MR-Egger, inverse variance weighted (IVW), Weighted median, Simple mode, and MR-PRESSO. Results. The MR analysis revealed a significant causal relationship between α crystallin level and the risk of cataract [odds ratio (OR)_IVW = 0.9989, 95% CI 0.9978~0.9999; OR_MR-PRESSO= 0.9988, 95% CI 0.9978~0.9999]. Conversely, no significant causal relationship was found between β or γ crystallin and the risk of cataract. Conclusion. The occurrence of cataract may be potentially linked to abnormal levels of α crystallin, suggesting that monitoring and managing these levels could be crucial in understanding and potentially mitigating the risk of cataract.

This bioinformatics study aimed to determine differentially expressed genes (DEGs) patterns of knee osteoarthritis chondrocytes versus human bone marrow stem cells towards chondrogenic commitment. We identified 43 DEGs (15 downregulated and 28 upregulated) and enriched pathways, which revealed the enrichment of complement and coagulation cascades and arrhythmogenic right ventricular cardiomyopathy pathways for upregulated and downregulated DEGs, respectively. Hub networks identified the top 5 hub genes, including CLU, PLAT, CP, TIMP3, and SERPINA1.

The article describes a single centre experience using the minimally invasive extracorporeal (MiECC) circulation that was modified by incorporation of coronary suction into the circuit, while maintaining the core principles of closed circuit perfusion. A detailed description of the construction of the circuit is provided. Perfusion management and the specific demands placed on the surgeon are explained in the article. The results of the retrospective analysis of clinical outcomes after utilization of this circuit in comparison to the conventional extracorporeal circulation are presented and discussed. The study focused mainly on major adverse events and blood loss comparison. The results demonstrate lower post-operative blood loss in patients operated on the MiECC circuit.

This work provides an in-depth exploration of mitochondrial functions beyond energy production, highlighting their essential roles in cellular processes, signaling, and health maintenance. By emphasizing recent advances in mitochondrial research, the manuscript underscores the impact of mitochondria in aging, disease, and exercise, offering valuable insights that could guide therapeutic strategies for enhancing mitochondrial health and longevity

Objective. To evaluate transperitoneal laparoscopic adrenalectomies performed at the University Hospital, Olomouc over a period of 20 years. Introduction. Thanks to the increased availability of imaging, the detection of adrenal disease is increasing. Laparoscopic adrenalectomy is now regarded as the gold standard for the treatment of adrenal disease due to its safety and efficacy despite the increasing popularity of robotic-assisted surgery. Methods. Over a period of 20 years, from 2002 to 2021, we retrospectively evaluated a cohort of 405 patients who had undergone laparoscopic adrenalectomy. The indication criteria for laparoscopic adrenalectomy were hormonally active symptomatic tumours (pheochromocytoma, Conn's syndrome, Cushing's syndrome, etc.), symptomatic cysts or myelolipomas, carcinomas, metastatic disabling or incidentalomas, growing at a rate >1 cm or more per year. Data collected focused on sex, age, medical classification, imaging, operative time, side dominance, hormonal activity, complications associated with surgery, length of hospital stay, and histopathologic verification. No patient who had undergone laparoscopic adrenalectomy was excluded from the cohort. Patients in our cohort were not operated by a single surgeon. Results. Women accounted for 52.1% (211) and men 47.9% (194). The mean age was 55.6 years, BMI 28.7, and median ASA score was 2. Preoperative imaging included abdominal CT in 352 (86.9%) patients, abdominal MRI with contrast agent in 8 (2.0%), and PET/CT in 45 (11.1%) patients. More frequent findings were on the right side in 223 (54.39%) patients. Hormonal activity was found in 271 patients (67 %). Hormone overproduction from the right adrenal gland was found in 120 (44.3%) patients, and from the left in 151 (55.7%). Adenoma was the most frequent histological finding, followed by hyperplasia. Conversion to open surgery was due to bleeding in 2 patients. There was no perioperative or postoperative mortality. According to the Clavien-Dindo classification, minor complications (Grade I) occurred in 375 patients (92.6%). Grade II complications were reported in 17 patients (4.2%). Grade III complications were identified in 13 patients (3.2%) due to operative field bleeding; in three cases (0.7%), surgical revision of the adrenalectomy bed was required. Conclusion. Laparoscopic adrenalectomy is a safe surgical method for the management of adrenal disease and our retrospective follow-up confirmed that it remains the gold standard.

The Measles-Rubella-Zoster (MRZ) reaction is a test for the intrathecal synthesis of IgG antibodies against measles, rubella and varicella zoster viruses. Since the 1990s, it has been used as an adjunctive test to support the diagnosis of multiple sclerosis (MS), although it has no formal role in current McDonald diagnostic criteria and its clinical relevance remains debated. While early studies considered a single elevated antibody index (M, R or Z) as a positive result, the practice today requires at least two elevated antibody indices (M+R, M+Z, or R+Z), referred to as a polyspecific MRZ reaction (MRZ-2). MRZ-2 is the most specific laboratory marker for MS, with reported specificity exceeding 90%. However, sensitivity varies widely across studies, ranging from approximately 30% to over 70%. In the Czech adult MS population, MRZ-2 sensitivity was recently reported at 32%, markedly lower than the 67% pooled sensitivity reported in a meta-analysis of predominantly German cohorts. Broadening the panel of anti-viral antibodies (MRZ+) has been proposed to improve sensitivity, with parvovirus B19 and mumps virus being the most promising candidates. Further studies are required to determine whether an extended panel can increase sensitivity while maintaining high diagnostic specificity.

Heart failure (HF) remains a growing public health concern. This study provides an updated analysis of HF incidence, prevalence, hospitalizations, and mortality trends in the Czech Republic (2015-2023). Using data from the National Healthcare Reimbursement Database (NRHZS), the authors evaluated key epidemiological patterns. Findings show a rising prevalence, stable incidence, and a slight decline in hospitalizations, while in-hospital mortality remains around 10%. Increased use of novel HF therapies, including ARNIs and SGLT2 inhibitors, was observed. These insights highlight the need for improved guideline adherence and multidisciplinary care models.

Congenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare coagulation disorders caused by quantitative or qualitative defects in the fibrinogen gene. In this study, the authors, working to identify genetic variants and expanding knowledge about genetic variants in Slovak patients with congenital fibrinogen disorders registered at the National Haemophilia Centre. Molecular-genetic analysis have revealed six novel variants in 36 patients - FGA c.923_968dup p.(Gly324Lysfs*44) and FGG c.1105C>T p.(His369Tyr) were identified in CD patients. In CH patients, in the FGG gene c.8G>A p.(Trp3*), c.823G>T p.(Glu275*) and c.323C>A p.(Ala108Asp) variants were detected. In the FGB gene c.1427C>T p.(Ser476Leu) was identified.

Acute cellular rejection (ACR) is a common issue after lung transplantation, but standardized screening remains elusive. This study compared histological transbronchial biopsy assessment with donor-derived cell-free DNA (dd-cfDNA) as a biomarker for detecting ACR. 74 samples obtained from lung transplant recipients were analysed, with ACR cases defined by histological grade and/or treatment necessity (n=10, 14%). Results showed significantly higher dd-cfDNA in ACR cases (61.2 cp/mL vs. 25.8 cp/mL in controls; P=0.04), but dd-cfDNA% and total cfDNA were not significantly different. While dd-cfDNA may help rule out ACR, further research is needed to refine its clinical application.

DNA methylation plays a critical role in the regulation of gene expression in the human leukocyte antigen (HLA) system which is a key component of immune function. This article reviews the molecular mechanisms by which DNA methylation influences HLA gene regulation, highlighting its impact on their antigen presentation and immune tolerance functions. We describe how methylation patterns vary in HLA class I and II genes, affecting their expression in a tissue- and allele-specific manner. In addition, we examine the interplay of DNA methylation in shaping immune responses. A focus is on the role of methylation in immune-mediated, namely autoimmune diseases, where aberrant epigenetic modifications at HLA loci contribute to disease susceptibility and progression. We also explore how single nucleotide polymorphisms (SNPs) within CpG sites can alter methylation patterns and gene expression, providing insights into genetic-epigenetic interactions. These findings may contribute to the development of new diagnostic and therapeutic strategies for immune-mediated diseases.