Advances in medical sciences最新文献

Safety and efficacy of therapeutic plasma exchange in pediatric neuro-immunological diseases. 血浆置换治疗小儿神经免疫疾病的安全性和有效性。

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2025-01-15 DOI: 10.1016/j.advms.2025.01.003

Magdalena Błasiak, Przemysław Korohoda, Katarzyna Zachwieja, Dorota Drożdż, Aleksandra Gergont, Karina Madej-Świątkowska, Monika Miklaszewska

{"title":"Safety and efficacy of therapeutic plasma exchange in pediatric neuro-immunological diseases.","authors":"Magdalena Błasiak, Przemysław Korohoda, Katarzyna Zachwieja, Dorota Drożdż, Aleksandra Gergont, Karina Madej-Świątkowska, Monika Miklaszewska","doi":"10.1016/j.advms.2025.01.003","DOIUrl":"https://doi.org/10.1016/j.advms.2025.01.003","url":null,"abstract":"<p><strong>Purpose: </strong>Therapeutic plasma exchange (TPE) is the treatment of choice in various neuro-immunological disorders in pediatric populations. This study assesses the safety and efficacy of TPE in this demographic.</p><p><strong>Materials and methods: </strong>A single-center, retrospective cohort study involving pediatric patients who experienced neuro-immunological events and underwent TPE procedures at a tertiary referral center was conducted.</p><p><strong>Results: </strong>The study included 81 patients (Guillain-Barre: 65, polyneuropathies: 5, myasthenia gravis: 8, multiple sclerosis: 3), undergoing collectively 360 TPE procedures. Fresh frozen plasma (FFP) was used in 76.1% of the TPE procedures. Adverse events (AEs) occurred in 50% of TPEs using FFP compared to 39.5% without. For procedures with at least two AEs, the rates were 24.5% with FFP vs 8.1% without. Incidence of allergic AEs was significantly higher in the FFP group (94.2% of TPE with at least one AE) compared to those without FFP (47.2%). Serious AE accounted for 1.2% of TPE procedures and 2.5% of patients. Effectiveness evaluations using a scale developed for this study and the Hughes Functional Grading Scale showed no significant clinical pre-treatment differences. After completing the treatment, children in the polyneuropathies group had the most severe clinical condition, and the largest relative improvement in clinical status was in the myasthenia gravis group.</p><p><strong>Conclusions: </strong>TPE conducted by filtration is an effective and safe therapy for pediatric neuro-immunological diseases, with benefits outweighing the risks of complications. The use of FFP in therapy increases the probability of AE by 27%, and significantly raises the risk of allergic and multiple AEs.</p>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998513","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}

引用次数: 0

Investigation of circulating natural autoantibodies against ANXA1 and MYC as potential biomarkers in hepatocellular carcinoma. 抗ANXA1和MYC的循环天然自身抗体作为肝细胞癌潜在生物标志物的研究。

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2025-01-15 DOI: 10.1016/j.advms.2025.01.004

Jiaxin Wang, Siqi Liu, Xuan Zhang

{"title":"Investigation of circulating natural autoantibodies against ANXA1 and MYC as potential biomarkers in hepatocellular carcinoma.","authors":"Jiaxin Wang, Siqi Liu, Xuan Zhang","doi":"10.1016/j.advms.2025.01.004","DOIUrl":"https://doi.org/10.1016/j.advms.2025.01.004","url":null,"abstract":"<p><strong>Purpose: </strong>In this study, we examined novel autoantibodies targeting tumor-associated antigens (TAAs) as biomarkers for clinical assessment of hepatocellular carcinoma (HCC) in a Chinese population.</p><p><strong>Methods and methods: </strong>A total of 119 patients with HCC and 130 healthy control (HC) volunteers who were age and gender matched were enrolled. The levels of circulating IgG antibodies were detected using an enzyme-linked immunosorbent test (ELISA) developed in-house with linear peptide antigens derived from Annexin A1(ANXA1) and proto-oncogene protein (MYC). The significant level was set at P<0.025 as two tests were performed.</p><p><strong>Results: </strong>In comparison to the HC group, plasma level of ANXA1 autoantibodies was significantly elevated in HCC patients (t=-3.174, P = 0.002) but the change of plasma MYC autoantibody levels failed to reach the significance level (P>0.025). There was a significant increase in these two plasma IgG autoantibodies in male HCC patients (ANXA1: t=-3.590, P<0.001; MYC: t=-2.706, P=0.007). Pearson correlation analysis demonstrated that both anti-ANXA1 and anti-MYC IgG levels had a positive correlation with BCLC staging (both P <0.025) but a negative correlation with plasma albumin (Alb) (both P <0.025). The area under the ROC curve (AUC) values were 0.613 for anti-ANXA1 IgG assay and 0.567 for anti-MYC IgG assay. The anti-ANAXA1 IgG assay showed a high sensitivity of 31.4% against the specificity of 90.0% for detection of BCLC stages C+D.</p><p><strong>Conclusions: </strong>Plasma anti-ANXA1 and anti-MYC autoantibodies are likely to serve as a potential biomarker for clinical assessment of HCC prognosis, particularly in male patients.</p>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998500","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}

引用次数: 0

Downregulation and inhibition of TRPM2 calcium channel prevent oxidative stress-induced endothelial dysfunction in the EA.hy926 endothelial cells model - Preliminary studies. 下调和抑制TRPM2钙通道可预防EA.hy926内皮细胞模型中氧化应激诱导的内皮功能障碍——初步研究

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2025-01-06 DOI: 10.1016/j.advms.2025.01.002

Wioletta Arendt, Klaudia Piekarska, Marta Hałas-Wiśniewska, Magdalena Izdebska, Alina Grzanka, Maciej Gagat

{"title":"Downregulation and inhibition of TRPM2 calcium channel prevent oxidative stress-induced endothelial dysfunction in the EA.hy926 endothelial cells model - Preliminary studies.","authors":"Wioletta Arendt, Klaudia Piekarska, Marta Hałas-Wiśniewska, Magdalena Izdebska, Alina Grzanka, Maciej Gagat","doi":"10.1016/j.advms.2025.01.002","DOIUrl":"10.1016/j.advms.2025.01.002","url":null,"abstract":"<p><strong>Purpose: </strong>Proper functioning of the endothelial barrier is crucial for cardiovascular system homeostasis. Oxidative stress can lead to endothelial dysfunction (ED), damaging lipids, proteins, and DNA. Reactive oxygen species also increase cytoplasmic Ca<sup>2+</sup> levels, activating transient receptor potential melastatin 2 (TRPM2), a membrane non-selective calcium channel. The study aimed to assess TRPM2's significance in vascular endothelial cells' response to oxidative stress and the potential use of TRPM2 direct and indirect inhibitors in the prevention of oxidative stress-induced ED.</p><p><strong>Materials and methods: </strong>EA.hy926 endothelial cells were exposed to hydrogen peroxide for 24 h to mimic oxidative stress conditions. To assess the significance of TRPM2 in the response of EA.hy926 cells to hydrogen peroxide TRPM2 siRNA as well as direct (N-(p-Amylcinnamoyl)anthranilic acid, flufenamic acid) and indirect (3-aminobenzamide, 3,4-dihydro-5[4-(1-piperidinyl)butyl]-1(2H)-isoquinolinone) TRPM2 inhibitors were tested.</p><p><strong>Results: </strong>Results showed that hydrogen peroxide-induced ED is alleviated by TRPM2 downregulation. Moreover, preincubation of cells with both direct and indirect TRPM2 inhibitors for 30 min before hydrogen peroxide treatment reduces its negative effects on cell viability, cell migration, and junctional proteins.</p><p><strong>Conclusions: </strong>The obtained results suggest that TRPM2 channel may be a potential target in therapy and prevention of cardiovascular diseases connected with oxidative stress-induced ED. However, further research is needed for clinical applications of direct and indirect TRPM2 inhibitors.</p>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":" ","pages":"62-78"},"PeriodicalIF":2.5,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942466","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}

引用次数: 0

Clinical value of CEUS with tumour marker monitoring in evaluating the prognosis of HCC after MWA. 超声造影联合肿瘤标志物监测对肝癌MWA术后预后评价的临床价值。

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2025-01-02 DOI: 10.1016/j.advms.2025.01.001

Qiang Guo, Yang Yu, Ruyun Ye, Zhiliang Huang, Tingting Shi

{"title":"Clinical value of CEUS with tumour marker monitoring in evaluating the prognosis of HCC after MWA.","authors":"Qiang Guo, Yang Yu, Ruyun Ye, Zhiliang Huang, Tingting Shi","doi":"10.1016/j.advms.2025.01.001","DOIUrl":"10.1016/j.advms.2025.01.001","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to evaluate the prognostic value of contrast-enhanced ultrasound (CEUS) combined with tumour markers in patients with hepatocellular carcinoma (HCC) undergoing microwave ablation (MWA).</p><p><strong>Methods: </strong>MWA patients with HCC were divided into good prognosis (n = 75) and poor prognosis (n = 69) groups. The levels of alpha-fetoprotein (AFP), carbohydrate antigen (CA19-9), and carcinoembryonic antigen (CEA) before and after MWA were analysed using an independent sample t-test. The correlation between prognosis, ablation lesion area, and tumour marker levels were analysed by Pearson's correlation. The diagnostic power of the ablation lesion area combined with tumour marker levels for the prognosis of patients with MWA was analysed using receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>The levels of AFP, CA19-9, and CEA in the good prognosis group were significantly lower than those in the poor prognosis group (all P < 0.001). The levels of all tumour markers were significantly negatively correlated with the prognosis of patients who underwent MWA (all r < 0, P < 0.001) and positively correlated with the area of tumour-ablated lesions (r > 0, P < 0.001). Moreover, the diagnostic efficacy of CEUS combined with tumour markers for the prognosis of patients who underwent MWA was significantly higher than that of either single diagnostic modality.</p><p><strong>Conclusions: </strong>CEUS combined with tumour marker monitoring can effectively improve the accuracy of prognostic diagnosis in patients with MWA and provide a reference for timely and reasonable treatment and therapeutic evaluation.</p>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":" ","pages":"79-85"},"PeriodicalIF":2.5,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926237","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}

引用次数: 0

To shock or not to shock - The accuracy of cardiac arrest rhythm assessment by paramedics in a simulated environment. 电击还是不电击——护理人员在模拟环境中心脏骤停节律评估的准确性。

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2024-12-18 DOI: 10.1016/j.advms.2024.12.002

Jerzy Jaskuła, Katarzyna Stolarz-Skrzypek, Klaudia Jaskuła, Jerzy Wordliczek, Grzegorz Cebula, Wojciech Zaręba, Małgorzata Kloch

{"title":"To shock or not to shock - The accuracy of cardiac arrest rhythm assessment by paramedics in a simulated environment.","authors":"Jerzy Jaskuła, Katarzyna Stolarz-Skrzypek, Klaudia Jaskuła, Jerzy Wordliczek, Grzegorz Cebula, Wojciech Zaręba, Małgorzata Kloch","doi":"10.1016/j.advms.2024.12.002","DOIUrl":"10.1016/j.advms.2024.12.002","url":null,"abstract":"<p><strong>Purpose: </strong>Defibrillation in shockable rhythm is a well-known key intervention in cardiopulmonary resuscitation (CPR). The aim of this study was to analyze accuracy (the sum of the numbers of true positive results and true negative results, divided by the number of total results) of deciding by paramedics whether the rhythm was shockable or non-shockable.</p><p><strong>Methods: </strong>In this study 103 paramedics from various regions of Poland participated voluntarily. Study participants were presented with 22 simulated various electrocardiogram (ECG) recordings based on 10-s videos. These rhythms were also assessed using a manual defibrillator with shock-advisory mode known as automated external defibrillator (AED) mode.</p><p><strong>Results: </strong>Among the 103 participants, the mean of correct answers (correct decision to defibrillate or correct decision not to defibrillate) was 18/22 (83.7 %). The highest possible score was achieved by the participant with 22/22 (100 %) correct answers, while the lowest was 10/22 (45.5 %). The highest score obtained for single rhythm was 97.1 % and the lowest was 32 %. Mean accuracy of shock-advisory mode was 77.3 %.</p><p><strong>Conclusions: </strong>Improving the quality of paramedic training and continuous quality monitoring (e.g., by analyzing ECG recordings from resuscitations) is essential to improve the accuracy of defibrillation rhythm recognition. The role of the AED mode can be advisory, but is not a substitute for assessment by medical professionals in Emergency Medical Service.</p>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":" ","pages":"51-56"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870971","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}

引用次数: 0

Systemic immune-inflammation index in the evaluation of Sjogren's syndrome associated with interstitial lung disease, interstitial pneumonia with autoimmune features, and idiopathic pulmonary fibrosis. 评估与间质性肺病相关的干燥综合征、具有自身免疫性特征的间质性肺炎和特发性肺纤维化的全身性免疫炎症指数

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2024-12-14 DOI: 10.1016/j.advms.2024.12.001

Gokhan Sargin, Kursad Baris, Sule Tas Gulen

{"title":"Systemic immune-inflammation index in the evaluation of Sjogren's syndrome associated with interstitial lung disease, interstitial pneumonia with autoimmune features, and idiopathic pulmonary fibrosis.","authors":"Gokhan Sargin, Kursad Baris, Sule Tas Gulen","doi":"10.1016/j.advms.2024.12.001","DOIUrl":"10.1016/j.advms.2024.12.001","url":null,"abstract":"<p><strong>Purpose: </strong>Interstitial lung disease (ILD) damages the lungs and can be caused by environmental exposures and collagen-vascular diseases. The systemic immune-inflammation index (SII) is investigated to diagnose and manage ILDs in different etiological diseases. The study aims to examine the usefulness of SII in diagnosing specific ILDs like Sjogren's syndrome (SjS)-ILD, interstitial pneumonia with autoimmune features (IPAF), and idiopathic pulmonary fibrosis (IPF).</p><p><strong>Materials and methods: </strong>In this cross-sectional study, we included 109 patients with IPAF, IPF, and SjS-ILD. Demographic characteristics, symptoms, lung patterns, autoantibodies, and SII were assessed. Morphologic, serologic, and clinical factors determined the classification of IPAF. Student's t-test, Mann-Whitney U test, Pearson-Spearman's method, and receiver operating characteristic (ROC) curves were used to analyze data.</p><p><strong>Results: </strong>Male patients were more common in IPF and IPAF, while SjS-ILD had mostly female patients. Raynaud's phenomenon and dry mouth/eyes were more common in SjS-ILD compared to IPF and IPAF. The groups had significant differences in patterns, antinuclear antibody positivity, and SII levels. SII levels differed significantly between IPAF, SjS-ILD, and IPF patients, and were correlated with CRP in IPAF and SjS-ILD. The cut-off value of the SII between IPAF and IPF in patients with ILD was 576.1 with 76.0 % sensitivity and 76.0 % specificity.</p><p><strong>Conclusions: </strong>Evaluation of SII provides valuable information for understanding and identifying different disease groups with ILDs.</p>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":" ","pages":"57-61"},"PeriodicalIF":2.5,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142826833","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}

引用次数: 0

Caloric restriction mimetics: Pinostilbene versus resveratrol regarding SIRT1 and SIRT6 interaction. 热量限制模拟：蒎烯与白藜芦醇对SIRT1和SIRT6相互作用的影响。

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2024-11-29 DOI: 10.1016/j.advms.2024.11.002

Anca Ungurianu, Denisa Margină, Dragoș P Mihai, Alina C Nicolae, Cristina M Drăgoi, Daniela Grădinaru, Anca Zanfirescu

{"title":"Caloric restriction mimetics: Pinostilbene versus resveratrol regarding SIRT1 and SIRT6 interaction.","authors":"Anca Ungurianu, Denisa Margină, Dragoș P Mihai, Alina C Nicolae, Cristina M Drăgoi, Daniela Grădinaru, Anca Zanfirescu","doi":"10.1016/j.advms.2024.11.002","DOIUrl":"10.1016/j.advms.2024.11.002","url":null,"abstract":"<p><strong>Purpose: </strong>Caloric restriction (CR), the permanent or periodic reduction of caloric intake, is a dietary strategy that promotes longevity and healthspan, yielding multiple beneficial effects, such as improved insulin sensitivity and mitochondrial function, decreased body weight, and mitigation of cardiometabolic risk factors. The purpose of our study was the in silico and in vitro assessment of the effects exerted by pinostilbene on SIRT1 and SIRT6 compared to those of resveratrol, a known activator of these enzymes.</p><p><strong>Materials and methods: </strong>Molecular docking was carried out to determine the interactions with SIRT1 and SIRT6 and, further, the effect of pinostilbene on their activity was tested in vitro to evaluate if it parallels resveratrol's effects regarding SIRT activation.</p><p><strong>Results: </strong>Molecular docking indicates that resveratrol and pinostilbene bind similarly to SIRT6, while pinostilbene may be able to activate SIRT1 more efficiently than resveratrol. In vitro activity assays showed that while both resveratrol and pinostilbene activate SIRT1 and SIRT6, the concentration-dependent effects differ. For resveratrol, a greater effect was observed at the medium concentration (25 μM), whereas pinostilbene showed a more pronounced activation at the lowest concentration (5 μM).</p><p><strong>Conclusions: </strong>Our results offer a glimpse into the structural features and interactions of pinostilbene and resveratrol with SIRT1 and SIRT6, contributing to understanding their potential roles in various cellular processes regulated by SIRT.</p>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":" ","pages":"44-50"},"PeriodicalIF":2.5,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765449","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}

引用次数: 0

Targeting treatment resistance in cervical cancer: A new avenue for senolytic therapies 针对宫颈癌的耐药性：老年溶解疗法的新途径

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2024-11-15 DOI: 10.1016/j.advms.2024.11.001

Madré Meyer , Carla Fourie , Haynes van der Merwe , Hennie Botha , Anna-Mart Engelbrecht

{"title":"Targeting treatment resistance in cervical cancer: A new avenue for senolytic therapies","authors":"Madré Meyer , Carla Fourie , Haynes van der Merwe , Hennie Botha , Anna-Mart Engelbrecht","doi":"10.1016/j.advms.2024.11.001","DOIUrl":"10.1016/j.advms.2024.11.001","url":null,"abstract":"<div><div>Cervical cancer poses a significant global health challenge, particularly impacting women in economically developing nations. This disparity stems from a combination of factors, including inadequate screening infrastructure and resource limitations. However, the foremost contributor is the widespread lack of awareness and limited accessibility to Human Papillomavirus (HPV) vaccination, which is a key preventative measure against cervical cancer development. Despite advancements in cervical cancer prevention, treatment resistance remains a major hurdle in achieving improved patient outcomes. Cellular senescence, specifically the senescence-associated secretory phenotype (SASP) and its bidirectional relationship with the immune system, has been implicated in resistance to conventional cervical cancer chemotherapy treatments. The exact mechanisms by which this state of growth arrest and the associated changes in immune regulation contribute to cervical cancer progression and the associated drug resistance are not entirely understood. This underscores the necessity for innovative strategies to address the prevalence of treatment-resistant cervical cancer, with one promising avenue being the utilisation of senolytics. Senolytics are agents that have promising efficacy in clearing senescent cells from tumour tissues, however neither the utilisation of senolytics for addressing senescence-induced treatment resistance nor the potential integration of immunotherapy as senolytic agents in cervical cancer treatment has been explored to date. This review provides a concise overview of the mechanisms underlying senescence induction and the pivotal role of the immune system in this process. Additionally, it explores various senolytic approaches that hold significant potential for advancing cervical cancer research.</div></div>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":"70 1","pages":"Pages 33-43"},"PeriodicalIF":2.5,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643687","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}

引用次数: 0

Recurrent hepatocellular carcinoma is associated with the enrichment of MYC targets gene sets, elevated high confidence deleterious mutations and alternative splicing of DDB2 and BRCA1 transcripts 复发性肝细胞癌与 MYC 目标基因组的富集、高置信度的有害突变以及 DDB2 和 BRCA1 转录本的替代剪接有关。

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2024-10-30 DOI: 10.1016/j.advms.2024.10.004

Oğuzhan Karaosmanoğlu

{"title":"Recurrent hepatocellular carcinoma is associated with the enrichment of MYC targets gene sets, elevated high confidence deleterious mutations and alternative splicing of DDB2 and BRCA1 transcripts","authors":"Oğuzhan Karaosmanoğlu","doi":"10.1016/j.advms.2024.10.004","DOIUrl":"10.1016/j.advms.2024.10.004","url":null,"abstract":"<div><h3>Purpose</h3><div>Recurrence is the main cause of hepatocellular carcinoma (HCC) related deaths. Underlying recurrence biology can be better understood by comparative analysis of the complete set of transcripts between recurrent and non-recurrent HCC. In this study, transcriptomic data (GSE56545) from 21 male patients diagnosed with either recurrent or non-recurrent HCC were reanalyzed to identify deregulated pathways, somatic mutations, fusion transcripts, alternative splicing events, and the immune context in recurrent HCC.</div></div><div><h3>Materials and methods</h3><div>DESeq2 was used for differential expression analysis, Mutect2 for somatic mutation analysis, Arriba and STAR-Fusion for fusion transcript analysis, and rMATs for alternative splicing analysis.</div></div><div><h3>Results</h3><div>The results revealed that MYC targets gene sets (Hallmark_MYC_targets_V1 and Hallmark_MYC_targets_V2) were significantly enriched in recurrent HCC. Among the MYC targets, <em>CBX3</em>, <em>NOP56</em>, <em>CDK4</em>, <em>NPM1</em>, <em>MCM5</em>, <em>MCM4</em> and <em>PA2G4</em> upregulation was significantly associated with poor survival. Somatic mutation analysis demonstrated that the numbers of high confidence deleterious mutations were significantly increased in recurrent HCC. Alternative splicing-mediated production of non-functional <em>DDB2</em> and oncogenic <em>BRCA1 D11q</em> were discovered in recurrent HCC. Finally, CD8<sup>+</sup> T-cells were significantly decreased in recurrent HCC.</div></div><div><h3>Conclusions</h3><div>These results indicated that the enrichment of MYC targets gene sets is one of the most critical factors that leads to the development of recurrent HCC. In addition, elevated deleterious mutation numbers and alternative spliced <em>DDB2</em> and <em>BRCA1</em> isoforms have been identified as prominent contributors to increasing genomic instability in male patients with recurrent HCC.</div></div>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":"70 1","pages":"Pages 17-26"},"PeriodicalIF":2.5,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563731","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}

引用次数: 0

Knockout of histone deacetylase 8 gene in breast cancer cells may alter the expression pattern of the signaling molecules 在乳腺癌细胞中敲除组蛋白去乙酰化酶 8 基因可能会改变信号分子的表达模式。

IF 2.5 4区医学

Advances in medical sciences Pub Date : 2024-10-20 DOI: 10.1016/j.advms.2024.10.003

Nahid Bahrami , Mohammad Abdi

{"title":"Knockout of histone deacetylase 8 gene in breast cancer cells may alter the expression pattern of the signaling molecules","authors":"Nahid Bahrami , Mohammad Abdi","doi":"10.1016/j.advms.2024.10.003","DOIUrl":"10.1016/j.advms.2024.10.003","url":null,"abstract":"<div><h3>Purpose</h3><div>Breast cancer (BC) is the most common cancer diagnosed in the world and it is also the main leading cause of cancer deaths in women. Change in epigenetic mechanisms promotes BC initiation and progression. Histone deacetylase 8 (<em>HDAC8</em>) was found to act as a potential oncogene in different malignancies. For better understanding of the HDAC8 function in BC development, we investigated the effect of <em>HDAC8</em> deletion on the expression of genes involved in signaling pathways.</div></div><div><h3>Materials and methods</h3><div>In this study, CRISPR technology was used to knockout the <em>HDAC8</em> gene in MDA-MB-468, MDA-MB-231 and MCF-7 cell lines. For this purpose, two gRNAs were designed and cloned into the PX459 vector. The gRNA-containing vectors were transfected into the BC cell lines and then the effect of this deletion on the expression of genes involved in signaling pathway was determined using quantitative real-time PCR (qRT-PCR).</div></div><div><h3>Results</h3><div>Analysis of qRT-PCR results showed a reduction in the expression of studied genes in BC cell lines after deletion of the <em>HDAC8</em> gene compared to untreated controls. Although this decline was not significant for <em>FGF2</em> and <em>FGFR1</em> genes, however the <em>mTOR</em>, <em>IGF1R</em>, <em>INSR</em>, <em>VEGFA</em> and <em>VEGFR2</em> genes showed statistically significant reduction in the studied BC cell lines. In addition, the down-regulation of <em>PDGFC</em> and <em>PDGFRA</em> genes were only significant in the TNBC cell lines.</div></div><div><h3>Conclusion</h3><div>Overall, our study showed that <em>HDAC8</em> can exert its oncogenic effects by altering the expression level of molecules involved in some signaling pathways, and inhibiting <em>HDAC8</em> can revert these effects.</div></div>","PeriodicalId":7347,"journal":{"name":"Advances in medical sciences","volume":"70 1","pages":"Pages 27-32"},"PeriodicalIF":2.5,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492805","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}

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