Biomedical Papers-Olomouc最新文献

{"title":"Vitreous proteomics in rhegmatogenous retinal detachment and proliferative vitreoretinopathy.","authors":"Jan Havlik, Martin Lada, Jan Tesar, Vladimir Kratky, Martin Sin","doi":"10.5507/bp.2025.015","DOIUrl":"https://doi.org/10.5507/bp.2025.015","url":null,"abstract":"<p><p>Rhegmatogenous retinal detachment (RRD) is a serious ophthalmic condition that, if untreated, can result in significant vision loss. Proliferative vitreoretinopathy (PVR) often complicates RRD and is the leading cause of surgical failure. Proteomic analysis of the vitreous has emerged as a powerful tool for elucidating the molecular mechanisms underlying RRD and PVR. This article reviews proteomic findings related to these conditions. A comprehensive literature search on PubMed was conducted, focusing on studies of vitreous proteomics in RRD and PVR published between 1988 and August 2024. Relevant findings on protein expression, metabolic pathways, and therapeutic targets were synthesized. Proteomic studies reveal significant alterations in photoreceptor-specific proteins, such as rhodopsin and Monocyte Chemoattractant Protein-1 (MCP-1), associated with apoptosis and inflammation during RRD. Metabolic dysregulation is evidenced by changes in glycolytic enzymes and antioxidants, including downregulation of peroxiredoxin-2 and ascorbic acid, suggesting impaired energy production and oxidative stress. Elevated cytokines, complement proteins, and matrix metalloproteinases highlight the role of inflammation and extracellular matrix remodelling in disease progression. Cytokine expression in PVR demonstrates distinct temporal patterns, with early stages marked by T-cell activation and mTOR pathway-related cytokines, and advanced stages characterized by monocyte chemoattractants associated with chronic inflammation. Currently, the potential of pharmacologic interventions in RRD and PVR remains limited. In contrast, proteomics offers critical insights into molecular mechanisms, identifying potential biomarkers and therapeutic pathways. The adoption of single-molecule and top-down proteomics, along with the integration of advanced technologies with artificial intelligence and bioinformatics, holds promise for accelerating progress toward precision medicine. These developments represent a promising avenue for future research and clinical application.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144082231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship of the systemic immune inflammation index to severity in chronic spontaneous urticaria.","authors":"Fikriye Kalkan, Sait Yesillik, Fevzi Demirel, Ezgi Sonmez, Yasemin Akgul Balaban, Mustafa Ilker Inan, Ozgur Kartal","doi":"10.5507/bp.2025.013","DOIUrl":"https://doi.org/10.5507/bp.2025.013","url":null,"abstract":"<p><strong>Background and aims: </strong>Chronic spontaneous urticaria (CSU) is a skin condition causing red, raised, itchy and sometimes painful hives which lasts longer than six weeks. While the cause is unclear, the Urticaria Activity Score-7 (UAS-7), can help to determine the severity of the disease while the Systemic Immune Inflammation Index (SII) defined as neutrophils × platelets/lymphocytes, is a recent marker that shows the inflammatory and immune status and can be easily calculated from routine blood tests using neutrophil, lymphocyte, and platelet counts. We aimed to determine whether the SII correlates with UAS-7 in CSU patients.</p><p><strong>Methods: </strong>We conducted this study on 245 patients with CSU. The UAS-7 score was obtained from all patients. Four groups were generated according to the UAS-7 score as ≤6, 7-15, 16-27, and 28-42. The correlation between the UAS-7 score and SII was evaluated.</p><p><strong>Results: </strong>There was a statistically significant difference between the groups in terms of white blood cell count, neutrophil count, platelet count, Neutrophil-lymphocyte ratio (NLR), Platelet- lymphocyte ratio (PLR), and SII (P<0.05). A positive correlation was found between SII, NLR and PLR, and UAS-7 score. The strongest correlation was between SII and UAS-7, with P<0.001, r=0.642.</p><p><strong>Conclusion: </strong>SII, which is easy to calculate, practical, and objective can be used for predicting the severity of the urticaria and for guiding the follow-up and treatment of these patients.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Blood loss in coronary artery bypass grafting on minimally invasive extracorporeal circulation - a single-centre experience and retrospective analysis.","authors":"Jan Juchelka, Martin Simek, Dominik Sabacky, Marek Vicha, Artur Barshatskyi, Ondrej Zuscich, Martin Troubil, Roman Hajek, Jana Zapletalova, Petr Santavy","doi":"10.5507/bp.2025.012","DOIUrl":"https://doi.org/10.5507/bp.2025.012","url":null,"abstract":"<p><strong>Background: </strong>Minimally-invasive extracorporeal circulation (MiECC) is confirmed to mitigate the post-perfusion syndrome resulting in better outcomes in operated patients compared to the conventional cardiopulmonary bypass (ECC).</p><p><strong>Aims: </strong>To determine whether there is a clinical benefit of lower blood loss in patients operated on MiECC compared to ECC. To provide a detailed construction of modified MiECC and its perfusion management.</p><p><strong>Methods: </strong>Retrospective analysis of the clinical data of 60 patients undergoing coronary artery bypass grafting on MiECC or ECC. The primary outcome was to compare the following variables in the 2 groups: intraoperative and 30-day mortality and cardiovascular death, myocardial infarction and cerebral stroke (MACCE). Secondary outcomes included surgical revision for bleeding or tamponade, intraoperative and postoperative blood loss and the consumption of packed red blood cell units. We modified our MiECC by connecting a cardiotomy suction.</p><p><strong>Results: </strong>There was no mortality, major adverse events or surgical revisions in either group. No difference was found for intraoperative blood loss. The MiECC group had significantly lower overall postoperative blood loss (660 mL vs 765 mL, P=0.037). Total consumption of packed red blood cell units was insignificantly higher in the ECC group (n=30 vs n=20, P=0.490).</p><p><strong>Conclusion: </strong>MiECC is a safe alternative to conventional ECC in routine procedures such as CABG. Its improved biocompatibility was reflected by better preservation of hemostasis in this study.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptomic analysis reveals distinct molecular signatures and regulatory networks of osteoarthritic chondrocytes versus mesenchymal stem cells during chondrogenesis.","authors":"Tsung-Yu Lin, Viraj Krishna Mishra, Rajni Dubey, Thakur Prasad Chaturvedi, Shankar A Narayan, Hsu-Wei Fang, Lung-Wen Tsai, Navneet Kumar Dubey","doi":"10.5507/bp.2025.008","DOIUrl":"https://doi.org/10.5507/bp.2025.008","url":null,"abstract":"<p><strong>Background: </strong>Recent regenerative studies imply conflicting results on knee osteoarthritic (OA) chondrocytes and mesenchymal stem cells (MSC)-mediated cartilage constructs in terms of compressive properties and tensile strength. This could be attributed to different gene expression patterns between MSC and OA chondrocytes during chondrogenic differentiation. Therefore, we analyzed differentially expressed genes (DEGs) between OA and MSC-derived chondrocytes using bioinformatics tools.</p><p><strong>Methods: </strong>We downloaded and analyzed the GSE19664 dataset from the Gene Expression Omnibus to identify DEGs. DAVID was used to perform Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses, while a protein-protein interaction network of DEGs was constructed through the Search Tool for the Retrieval of Interacting Genes (STRING) and identified hub genes by CytoHubba.</p><p><strong>Results: </strong>A total of 43 DEGs identified (15 downregulated and 28 upregulated) were found to be deregulated between OA and MSC-derived chondrocytes. KEGG analysis revealed the enrichment of complement and coagulation cascades and other pathways among the studied chondrocytes. The pathway enrichment identified top KEGG, gene ontology biological process, molecular function, and cellular component. The hub networks identified the top 5 hub genes involved in chondrogenesis, including CLU, PLAT, CP, TIMP3, and SERPINA1.</p><p><strong>Conclusions: </strong>Our results identified significant genes involved in chondrogenesis. These findings provide new avenues for exploring the genetic mechanism underlying cartilage synthesis and novel targets for preclinical intervention and clinical treatment.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling the complexity of neurofibromatosis type 1: Innovations in genetic understanding and clinical management. A narrative review.","authors":"Aurora Jurca, Simona Pop, Claudia Maria Jurca, Cosmin Mihai Vesa, Alexandru Daniel Jurca","doi":"10.5507/bp.2025.011","DOIUrl":"https://doi.org/10.5507/bp.2025.011","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene. The most important signs are café-au-lait spots, intertriginous freckling, and neurofibromas. The disease has a progressive course, the penetrance is almost complete, and reduces life expectancy by approximately 15%. This review examines the current literature, including NIH (National Institute of Health) diagnostic criteria, genetic testing, genotype-phenotype correlations, and emerging therapies. Genetic testing has improved diagnostic accuracy, particularly for age-dependent clinical features. The genotype-phenotype correlation in NF1 underscores that specific genetic alterations, such as large deletions in the NF1 gene, are frequently linked to more severe clinical outcomes. These deletions often result in early onset of symptoms, a higher frequency of tumor development, and increased tumor burden, all of which contribute to a more complex clinical course. Consequently, individuals with these genetic changes require intensive and continuous monitoring to manage potential complications and prevent further health deterioration. Advances in therapies such as MEK inhibitors offer hope for inoperable plexiform neurofibromas, while surgery remains the primary option for localized tumors, despite the risk of recurrence. Multidisciplinary care and genetic advancements are crucial for improving the prognosis and quality of life of patients with NF1.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondria in focus: From structure and function to their role in human diseases. A review.","authors":"Daniel Follprecht, Jakub Vavricka, Viktorie Johankova, Pavel Broz, Ales Krouzecky","doi":"10.5507/bp.2025.009","DOIUrl":"https://doi.org/10.5507/bp.2025.009","url":null,"abstract":"<p><p>Mitochondria, double-membraned organelles within all eukaryotic cells, are essential for the proper functioning of the human organism. The frequently used phrase \"powerhouses of the cell\" fails to adequately capture their multifaceted roles. In addition to producing energy in the form of adenosine triphosphate through oxidative phosphorylation, mitochondria are also involved in apoptosis (programmed cell death), calcium regulation, and signaling through reactive oxygen species. Recent research suggests that they can communicate with one another and influence cellular processes. Impaired mitochondrial function on the one hand, can have widespread and profound effects on cellular and organismal health, contributing to various diseases and age-related conditions. Regular exercise on the other hand, promotes mitochondrial health by enhancing their volume, density, and functionality. Although research has made significant progress in the last few decades, mainly through the use of modern technologies, there is still a need to intensify research efforts in this field. Exploring new approaches to enhance mitochondrial health could potentially impact longevity. In this review, we focus on mitochondrial research and discoveries, examine the structure and diverse roles of mitochondria in the human body, explore their influence on energy metabolism and cellular signaling and emphasize their importance in maintaining overall health.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anticoagulation in device-detected atrial fibrillation: Challenges in stroke prevention and heart failure management.","authors":"Jiri Vrtal, Jiri Plasek, Jan Vaclavik, Jozef Dodulik, David Sipula","doi":"10.5507/bp.2025.010","DOIUrl":"https://doi.org/10.5507/bp.2025.010","url":null,"abstract":"<p><p>Atrial fibrillation (AF), the most common cardiac arrhythmia globally, contributes significantly to morbidity and mortality. With advancements in implantable devices like pacemakers, defibrillators, and loop recorders, incidental detection of AF as device-detected AF (DDAF) or subclinical AF (SCAF) has become common. This asymptomatic AF presents unique management challenges, particularly in anticoagulation decisions for stroke prevention. Evidence from recent trials, notably NOAH-AFNET 6 and ARTESiA, indicates a complex risk-benefit profile for anticoagulation in DDAF. In ARTESiA, anticoagulation modestly reduced stroke and systemic embolism rates, though this effect did not reach statistical significance. The NOAH-AFNET 6 trial found no significant reduction in a composite of cardiovascular death, stroke, or systemic embolism with anticoagulation compared to placebo. Both trials revealed an increased bleeding risk, underscoring the need to carefully weigh stroke prevention against bleeding risks in DDAF. The 2024 European Society of Cardiology guidelines reflect this nuanced approach by advocating a tailored, risk-based strategy. Emerging evidence also shows that AF burden impacts heart failure (HF) outcomes, with a five-fold increase in HF hospitalizations associated with higher AF burden. This highlights the importance of rhythm or rate control to reduce HF progression, particularly in patients with both AF and HF, where reducing AF burden is associated with better prognosis and fewer hospitalizations. Future research should focus on refining anticoagulation strategies, especially for patients with low AF burden, and exploring novel approaches like intermittent anticoagulation and advanced monitoring to support personalized DDAF management.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of Vibrio parahaemolyticus sensitive and specific loop-mediated isothermal amplification combined with lateral flow device.","authors":"Xiaoheng Liang, Dan Zhan, Xin Huang, Jinli Bi, Jinghan Li, Liqin Meng, Li Xie, Taijie Li","doi":"10.5507/bp.2025.007","DOIUrl":"https://doi.org/10.5507/bp.2025.007","url":null,"abstract":"<p><strong>Background and aim: </strong>Vibrio parahaemolyticus a gram-negative, rod-shaped bacterium with salinophilic properties is found mainly in rivers, oceans, and coastal environments. With the expanding scale of aquaculture in coastal regions of China, the contamination of seafoods with Vibrio parahaemolyticus is becoming a significant cause of food poisoning with symptoms including gastroenteritis, wound infection and sepsis. Current methods for detecting this microorganism are unsuitable in the present context. We developed a rapid LAMP-LFD method-by combining the loop-mediated isothermal amplification technique (LAMP) and lateral flow device (LFD).</p><p><strong>Methods: </strong>The thermolabile hemolysin tlh gene of Vibrio parahaemolyticus was used as the target, and we designed five specific primers in its conserved region. The primers were used to carry LAMP reaction with biotin labelling, the products completed hybridisation with the FAM-labelled primers, and the hybridisation products were tested for results on LFD.</p><p><strong>Results: </strong>The results showed that the LAMP-LFD method specifically detected Vibrio parahaemolyticus and was negative for proximate strains such as Vibrio vulnificus and other Vibrio pathogens as well as common pathogens such as Escherichia coli. The optimised reaction conditions for LAMP were 40 min at 60 °C, plus 5 min of probe hybridisation and 3-5 min of LFD color development. The lowest concentration of Vibrio parahaemolyticus pure culture bacterial fluid of 1.5×10² cfu/mL could be detected, and the pathogen could be detected from tissue samples with a contamination concentration of 0.75×10³ cfu/mL. The method has higher specificity and sensitivity, and the pathogen can be detected within 1.5 h.</p><p><strong>Conclusion: </strong>The LAMP-LFD method for Vibrio parahaemolyticus established in this study has the advantages of convenient operation, low dependence on equipment, high sensitivity and rapid detection, all of make it ideally suited to the detection of Vibrio parahaemolyticus at the grass-roots level.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum drug levels and medication adherence in heart failure: A comparative cohort analysis.","authors":"Libor Jelinek, Martin Modrak, Jan Vaclavik, Zdenek Ramik, Lukas Stos, Marie Lazarova, Radek Adamek, Hana Janeckova, Jana Spurna","doi":"10.5507/bp.2025.006","DOIUrl":"https://doi.org/10.5507/bp.2025.006","url":null,"abstract":"<p><strong>Objective: </strong>To determine changes in medication adherence in two cohorts of heart failure patients differing by year of data collection and using a direct method of adherence detection - serum drug level testing.</p><p><strong>Methods: </strong>We added a second cohort of patients to a prospective monocentric registry of chronic heart failure patients (LEVEL-CHF registry). The two cohorts share the same inclusion criteria but differ by the year of enrolment (2018 and 2020). Stable patients with heart failure with reduced ejection fraction were enrolled in a specialized university hospital center.</p><p><strong>Results: </strong>We included 402 records of 366 individual patients, 274 in 2018 and 128 in 2020. 36 patients were enrolled in both cohorts. Of the total 81% of patients were fully adherent, and 19% were non-adherent to a varying degree. Between 2018 and 2020 there was a statistically significant increase in BMI (P=0.047) and fasting glycemia (P=0.009). Patients in the 2020 cohort were less adherent than those in the 2018 cohort (P<0.01). Patients in the two cohorts had similarly severe heart failure and did not substantially differ in NYHA class. There were no statistically significant differences between adherent and non-adherent patients after adjusting for multiple comparisons.</p><p><strong>Conclusions: </strong>In this comparison, most patients were fully adherent to all their medication and very few were non-adherent to multiple medications. We found no clinically relevant differences between adherent and non-adherent patients. Serum drug level testing is an effective method of adherence testing in clinical practice.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and molecular genetic analysis of cytologically uncertain thyroid nodules in patients with thyroid disease.","authors":"Jindrich Lukas, Barbora Hintnausova, Vlasta Sykorova, Martin Syrucek, Marek Maly, David Lukas, Jaroslava Duskova","doi":"10.5507/bp.2023.048","DOIUrl":"10.5507/bp.2023.048","url":null,"abstract":"<p><strong>Background: </strong>The current requirement is to establish the preoperative diagnosis accurately as possible and to achieve an adequate extent of surgery. The aim of this study was to define the preoperative clinical and molecular genetic risks of malignancy in indeterminate thyroid nodules (Bethesda III and IV) and to determine their impact on the surgical strategy.</p><p><strong>Methods: </strong>Prospectively retrospective analysis of 287 patients provided the basis of preoperative laboratory examination, sonographic stratification of malignancy risks and cytological findings. Molecular tests focused on pathogenic variants of genes associated with thyroid oncogenesis in cytologically indeterminate nodules (Bethesda III and IV). The evaluation included clinical risk factors: positive family history, radiation exposure and growth in size and/or number of nodules.</p><p><strong>Results: </strong>Preoperative FNAB detected 52 cytologically indeterminate nodules (28.7%) out of 181 patients. Postoperative histopathological examination revealed malignancy in 12 cases (23.7%) and there was no significant difference between Bethesda III and IV categories (P=0.517). Clinical risk factors for malignancy were found in 32 patients (61.5%) and the presence of at least one of them resulted in a clearly higher incidence of malignancy than their absence (31.3% vs. 10.0%, respectively). Pathogenic variants of genes were detected in 12/49 patients in Bethesda III and IV, and in 4 cases (33.3%) thyroid carcinoma was revealed. The rate of malignancies was substantially higher in patients with pathogenic variants than in those without (33.3% vs. 16.2%, respectively).</p><p><strong>Conclusions: </strong>Our experience implies that molecular genetic testing is one of several decision factors. We will continue to monitor and enlarge our patient cohort to obtain long-term follow-up data.</p>","PeriodicalId":55363,"journal":{"name":"Biomedical Papers-Olomouc","volume":" ","pages":"26-31"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138500311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}