Pub Date : 2024-10-31eCollection Date: 2024-10-01DOI: 10.2478/abm-2024-0029
Chia-Yen Yang, Yin-Zhen Chen
Background: Depression is one of the most common mental disorders. Although depression is typically diagnosed by identifying specific symptoms and through history, no recognized standard for depression diagnosis exists. This assures the development of objective diagnostic tools for depression.
Objectives: We investigated the differences in the resting-state electroencephalograms (EEGs) of patients with depression and healthy controls (HCs) to distinguish patients from HCs by using a support vector machine (SVM) classifier with the following two feature selection approaches: t test and receiver operating characteristic analysis.
Methods: We used the EEG data from the Patient Repository of EEG Data + Computational Tools; this study included 21 patients with depressive disorder (MDD) and 21 HCs. The relative frequency power, alpha interhemispheric asymmetry, left-right coherence, strength, clustering coefficient (CC), shortest path length, sample entropy (SampEn), multiscale entropy (MSE), and detrended fluctuation analysis (DFA) data were extracted to determine candidate EEG features associated with depression.
Results: With the t-test selection, the SVM classifier demonstrated the highest performance with the accuracy, sensitivity, and specificity of 96.66%, 95.93%, and 97.550% for the eye-open condition and 91.33%, 90.59%, and 91.81% for the eye-closed condition, respectively. For comparisons of features in the 2 selection approaches, the most influential features were relative frequency power and left-right coherence.
Conclusion: Using this information to distinguish patients with MDD from HC subjects with the SVM classifier resulted in a mean accuracy over 90%. Although this result may not be robust enough for clinical applications, further exploration is necessary given the simplicity, objectivity, and efficiency of the classifier.
{"title":"Support vector machine classification of patients with depression based on resting-state electroencephalography.","authors":"Chia-Yen Yang, Yin-Zhen Chen","doi":"10.2478/abm-2024-0029","DOIUrl":"10.2478/abm-2024-0029","url":null,"abstract":"<p><strong>Background: </strong>Depression is one of the most common mental disorders. Although depression is typically diagnosed by identifying specific symptoms and through history, no recognized standard for depression diagnosis exists. This assures the development of objective diagnostic tools for depression.</p><p><strong>Objectives: </strong>We investigated the differences in the resting-state electroencephalograms (EEGs) of patients with depression and healthy controls (HCs) to distinguish patients from HCs by using a support vector machine (SVM) classifier with the following two feature selection approaches: t test and receiver operating characteristic analysis.</p><p><strong>Methods: </strong>We used the EEG data from the Patient Repository of EEG Data + Computational Tools; this study included 21 patients with depressive disorder (MDD) and 21 HCs. The relative frequency power, alpha interhemispheric asymmetry, left-right coherence, strength, clustering coefficient (CC), shortest path length, sample entropy (SampEn), multiscale entropy (MSE), and detrended fluctuation analysis (DFA) data were extracted to determine candidate EEG features associated with depression.</p><p><strong>Results: </strong>With the t-test selection, the SVM classifier demonstrated the highest performance with the accuracy, sensitivity, and specificity of 96.66%, 95.93%, and 97.550% for the eye-open condition and 91.33%, 90.59%, and 91.81% for the eye-closed condition, respectively. For comparisons of features in the 2 selection approaches, the most influential features were relative frequency power and left-right coherence.</p><p><strong>Conclusion: </strong>Using this information to distinguish patients with MDD from HC subjects with the SVM classifier resulted in a mean accuracy over 90%. Although this result may not be robust enough for clinical applications, further exploration is necessary given the simplicity, objectivity, and efficiency of the classifier.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 5","pages":"212-223"},"PeriodicalIF":0.4,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Thailand has the world's highest prevalence of cholangiocarcinoma (CCA), especially in the endemic area of liver fluke Opisthorchis viverrini infection. However, other regions of Thailand still have relatively high CCA prevalence.
Objectives: We aimed to determine CCA risk factors in areas not endemic for OV infection.
Methods: A case--control study was performed at a referral center during December 2016-December 2017. We collected blood samples and information from CCA patients and identified them as cases. The control group comprised patients who visited a gastrointestinal clinic for colorectal cancer screening colonoscopy. Logistic regression analysis was used to determine risk factors for CCA.
Results: Of 138 participants, O. viverrini infection rate was higher in the case than in the control group (57.1% vs. 36.1%, P = 0.023). Male, O. viverrini infection, smoking, alcohol consumption, and biliary tract diseases were independent risk factors, whereas diabetes, obesity, and cirrhosis were not associated with CCA. By age and sex-adjusted analysis, chronic biliary tract diseases, especially choledochal cysts and smoking, were risk factors for CCA, with adjusted odds ratio (aOR) of 12.7 (95% confidence interval [CI]: 1.4-116.9) and 3.8 (95% CI: 1.3-11.8), respectively, while O. viverrini infection became insignificant risk for CCA (aOR 1.8, 95% CI: 0.8-4.1).
Conclusions: In contrast with endemic areas for O. viverrini infection, chronic biliary tract diseases and smoking are major risk factors, whereas O. viverrini infection has trivial contribution to the development of CCA.
{"title":"Risk factors of cholangiocarcinoma in areas not endemic for liver fluke infection.","authors":"Tongluk Teerasarntipan, Pawat Phuensan, Chonlada Phathong, Somchai Pinlaor, Parit Mekaroonkamol, Roongruedee Chaiteerakij","doi":"10.2478/abm-2024-0028","DOIUrl":"10.2478/abm-2024-0028","url":null,"abstract":"<p><strong>Background: </strong>Thailand has the world's highest prevalence of cholangiocarcinoma (CCA), especially in the endemic area of liver fluke <i>Opisthorchis viverrini</i> infection. However, other regions of Thailand still have relatively high CCA prevalence.</p><p><strong>Objectives: </strong>We aimed to determine CCA risk factors in areas not endemic for OV infection.</p><p><strong>Methods: </strong>A case--control study was performed at a referral center during December 2016-December 2017. We collected blood samples and information from CCA patients and identified them as cases. The control group comprised patients who visited a gastrointestinal clinic for colorectal cancer screening colonoscopy. Logistic regression analysis was used to determine risk factors for CCA.</p><p><strong>Results: </strong>Of 138 participants, <i>O. viverrini</i> infection rate was higher in the case than in the control group (57.1% vs. 36.1%, <i>P</i> = 0.023). Male, <i>O. viverrini</i> infection, smoking, alcohol consumption, and biliary tract diseases were independent risk factors, whereas diabetes, obesity, and cirrhosis were not associated with CCA. By age and sex-adjusted analysis, chronic biliary tract diseases, especially choledochal cysts and smoking, were risk factors for CCA, with adjusted odds ratio (aOR) of 12.7 (95% confidence interval [CI]: 1.4-116.9) and 3.8 (95% CI: 1.3-11.8), respectively, while <i>O. viverrini</i> infection became insignificant risk for CCA (aOR 1.8, 95% CI: 0.8-4.1).</p><p><strong>Conclusions: </strong>In contrast with endemic areas for <i>O. viverrini</i> infection, chronic biliary tract diseases and smoking are major risk factors, whereas <i>O. viverrini</i> infection has trivial contribution to the development of CCA.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 5","pages":"204-211"},"PeriodicalIF":0.4,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-31eCollection Date: 2024-10-01DOI: 10.2478/abm-2024-0027
Mohammad Kurniawan, Yetty Ramli, Nadira Deanda Putri, Salim Harris, Al Rasyid, Taufik Mesiano, Rakhmad Hidayat
Stroke represents a significant global health issue, primarily in the form of ischemic stroke. Despite the availability of therapeutic interventions, the recovery from chronic stroke, occurring 3 months post-initial stroke, poses substantial challenges. A promising avenue for post-acute stroke patients is mesenchymal stem cells (MSCs) therapy, which is derived from various sources and is globally recognized as the most utilized and extensively studied stem cell therapy. This systematic review, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, aims to synthesize evidence regarding the impact of MSCs therapy on patients with chronic ischemic stroke. Employing an advanced search strategy across databases such as PubMed, PubMed Central, Google Scholar, the Cochrane Central Register of Controlled Trials (CENTRAL), and ClinicalTrial.gov, a total of 70 studies were identified, with 4studies meeting the inclusion criteria. Although positive outcomes were observed in terms of efficacy and safety, certain limitations, such as small sample sizes, study heterogeneity, and the absence of placebo groups, undermine the overall strength of the evidence. It is crucial to address these limitations in future research, highlighting the importance of larger sample sizes, standardized methodologies, and comparative trials to improve the assessment of MSCs' efficacy and safety. Moving forward, key priorities include exploring underlying mechanisms, determining optimal administration modes and dosages, and conducting comparative trials. By addressing these aspects, we can propel MSCs therapies toward greater efficacy, safety, and applicability across diverse patient populations.
中风是一个重大的全球性健康问题,主要表现为缺血性中风。尽管有治疗干预措施,但慢性中风(发生在首次中风后 3 个月)的恢复仍面临巨大挑战。间充质干细胞(MSCs)疗法是治疗急性中风后患者的一个很有前景的途径,间充质干细胞来源广泛,是全球公认的使用最多、研究最广泛的干细胞疗法。本系统综述遵循系统综述和元分析首选报告项目(PRISMA)指南,旨在综合间充质干细胞疗法对慢性缺血性中风患者影响的相关证据。通过在 PubMed、PubMed Central、Google Scholar、Cochrane Central Register of Controlled Trials (CENTRAL) 和 ClinicalTrial.gov 等数据库中采用高级检索策略,共确定了 70 项研究,其中 4 项符合纳入标准。虽然在疗效和安全性方面观察到了积极的结果,但某些局限性,如样本量小、研究异质性和缺乏安慰剂组等,削弱了证据的整体强度。在未来的研究中,解决这些局限性至关重要,强调了更大样本量、标准化方法和比较试验对改善间充质干细胞疗效和安全性评估的重要性。今后的重点工作包括探索潜在机制、确定最佳给药模式和剂量以及开展比较试验。通过解决这些方面的问题,我们可以推动间充质干细胞疗法实现更高的疗效、安全性和对不同患者群体的适用性。
{"title":"Mesenchymal stem cells therapy for chronic ischemic stroke-a systematic review.","authors":"Mohammad Kurniawan, Yetty Ramli, Nadira Deanda Putri, Salim Harris, Al Rasyid, Taufik Mesiano, Rakhmad Hidayat","doi":"10.2478/abm-2024-0027","DOIUrl":"10.2478/abm-2024-0027","url":null,"abstract":"<p><p>Stroke represents a significant global health issue, primarily in the form of ischemic stroke. Despite the availability of therapeutic interventions, the recovery from chronic stroke, occurring 3 months post-initial stroke, poses substantial challenges. A promising avenue for post-acute stroke patients is mesenchymal stem cells (MSCs) therapy, which is derived from various sources and is globally recognized as the most utilized and extensively studied stem cell therapy. This systematic review, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, aims to synthesize evidence regarding the impact of MSCs therapy on patients with chronic ischemic stroke. Employing an advanced search strategy across databases such as PubMed, PubMed Central, Google Scholar, the Cochrane Central Register of Controlled Trials (CENTRAL), and ClinicalTrial.gov, a total of 70 studies were identified, with 4studies meeting the inclusion criteria. Although positive outcomes were observed in terms of efficacy and safety, certain limitations, such as small sample sizes, study heterogeneity, and the absence of placebo groups, undermine the overall strength of the evidence. It is crucial to address these limitations in future research, highlighting the importance of larger sample sizes, standardized methodologies, and comparative trials to improve the assessment of MSCs' efficacy and safety. Moving forward, key priorities include exploring underlying mechanisms, determining optimal administration modes and dosages, and conducting comparative trials. By addressing these aspects, we can propel MSCs therapies toward greater efficacy, safety, and applicability across diverse patient populations.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 5","pages":"194-203"},"PeriodicalIF":0.4,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-31eCollection Date: 2024-10-01DOI: 10.2478/abm-2024-0026
{"title":"Risk factors of cholangiocarcinoma: more than control of liver fluke.","authors":"","doi":"10.2478/abm-2024-0026","DOIUrl":"10.2478/abm-2024-0026","url":null,"abstract":"","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 5","pages":"192-193"},"PeriodicalIF":0.4,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: BCa is the most common cancer of the urinary system. TPH1 has been reported to be associated with distinct tumorigenesis. However, the role of TPH1 in BCa remains to be clarified.
Objectives: Our aim is to demonstrate the molecular mechanism of TPH1 in BCa carcinogenesis and development.
Methods: In research, we explored the effect of TPH1 on T24 cells. Colony formation, soft agar, and cell proliferation assays were used to determine the survival and proliferative capacity of cells. Moreover, TPH1-/- cell lines were analyzed using CRISP-CAS9, and the recovery experiment was conducted. Realtime fluorescence quantitative PCR (qPCR) and Western blot were used to detect HIF-1α mRNA levels and TPH1 protein.
Results: The TPH1 expression is lower in tumor tissues than in normal tissues. Colony formation, soft agar, and cell proliferation assays revealed that the overexpression of TPH1 declined cells survival. Moreover, the deficiency of TPH1 increased the number of clones. These results suggested that survival rate of TPH1 overexpression was repressed in cells. In addition, we found that HIF-1α activity was significantly downregulated with an increase in TPH1. The transcriptional activity of survivin was increased with TPH1-/- cells. Then, the proliferative ability of TPH1-/- cells was almost similar to the wild type levels with the treatment of LW6, TPH1 might play a major role to repress HIF-1α activity.
Conclusions: Taken together, these results suggested that increasing TPH1 activity could inhibit survival and proliferation of cells via HIF-1α pathway. TPH1 may be a potential target for human BCa therapy.
{"title":"TPH1 inhibits bladder tumorigenesis by targeting HIF-1α pathway in bladder cancer.","authors":"Jianwei Ren, Zhiting Mo, Xia Deng, Minghui Ren, Hailong Ren, Jie Jin, Huihui Zhang","doi":"10.2478/abm-2024-0023","DOIUrl":"10.2478/abm-2024-0023","url":null,"abstract":"<p><strong>Background: </strong>BCa is the most common cancer of the urinary system. TPH1 has been reported to be associated with distinct tumorigenesis. However, the role of TPH1 in BCa remains to be clarified.</p><p><strong>Objectives: </strong>Our aim is to demonstrate the molecular mechanism of TPH1 in BCa carcinogenesis and development.</p><p><strong>Methods: </strong>In research, we explored the effect of TPH1 on T24 cells. Colony formation, soft agar, and cell proliferation assays were used to determine the survival and proliferative capacity of cells. Moreover, TPH1<sup>-/-</sup> cell lines were analyzed using <i>CRISP-CAS9</i>, and the recovery experiment was conducted. Realtime fluorescence quantitative PCR (qPCR) and Western blot were used to detect HIF-1α mRNA levels and TPH1 protein.</p><p><strong>Results: </strong>The TPH1 expression is lower in tumor tissues than in normal tissues. Colony formation, soft agar, and cell proliferation assays revealed that the overexpression of TPH1 declined cells survival. Moreover, the deficiency of TPH1 increased the number of clones. These results suggested that survival rate of TPH1 overexpression was repressed in cells. In addition, we found that HIF-1α activity was significantly downregulated with an increase in TPH1. The transcriptional activity of survivin was increased with TPH1<sup>-/-</sup> cells. Then, the proliferative ability of TPH1<sup>-/-</sup> cells was almost similar to the wild type levels with the treatment of LW6, TPH1 might play a major role to repress HIF-1α activity.</p><p><strong>Conclusions: </strong>Taken together, these results suggested that increasing TPH1 activity could inhibit survival and proliferation of cells via HIF-1α pathway. TPH1 may be a potential target for human BCa therapy.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 4","pages":"171-179"},"PeriodicalIF":0.4,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: The SARS-CoV-2 virus produces severe acute respiratory syndrome. The severity of coronavirus disease 2019 (COVID-19) infection is determined by a number of factors, including inherited ones.
Objectives: Our goal is to investigate the link between ACE2 G8790A (rs2285666) and AT2R A1675G (rs14035430) gene polymorphisms in COVID-19 patients with and without lung involvement.
Methods: A total of 160 COVID-19 patients were divided into 2 groups based on their clinical symptoms: those without lung involvement (control group) and those with lung involvement (infected group). The ACE2 G8790A and AT2R A1675G gene polymorphisms were analyzed using the PCR-RFLP methods.
Results: The GG genotype, G allele of ACE2 G8790A, and GG genotype of AT2R A1675G were significantly higher in the control group and had a protective effect against COVID-19 as well as decreased the development of lung involvement (OR = 0.29, 95% CI = 0.10-0.84; OR = 0.40, 95% CI = 0.22-0.72; and OR = 0.33, 95% CI = 0.14-0.78, respectively). Moreover, we found that the AA genotype, A allele of ACE2 G8790A, and AG genotype of AT2R A1675G increased the risk of COVID-19 in the infected group (OR = 3.50, 95% CI = 1.18-10.3; OR = 2.49, 95% CI = 1.39-4.48; and OR = 3.08, 95% CI = 1.28-7.38, respectively).
Conclusions: These results revealed that a greater frequency of COVID-19 lung involvement in the Turkish population was connected with the AA genotype, the A allele of ACE2 G8790A, and the AG genotype of AT2R A1675G.
背景SARS-CoV-2病毒可导致严重急性呼吸系统综合征。冠状病毒病 2019(COVID-19)感染的严重程度由多种因素决定,包括遗传因素:我们的目标是研究有肺部受累和无肺部受累的COVID-19患者中ACE2 G8790A(rs2285666)和AT2R A1675G(rs14035430)基因多态性之间的联系:根据临床症状将160名COVID-19患者分为两组:无肺部受累者(对照组)和肺部受累者(感染组)。采用 PCR-RFLP 方法分析 ACE2 G8790A 和 AT2R A1675G 基因多态性:结果:ACE2 G8790A的GG基因型、G等位基因和AT2R A1675G的GG基因型在对照组中明显较高,对COVID-19有保护作用,并能减少肺部受累的发生(OR = 0.29,95% CI = 0.10-0.84;OR = 0.40,95% CI = 0.22-0.72;OR = 0.33,95% CI = 0.14-0.78)。此外,我们发现AA基因型、ACE2 G8790A的A等位基因和AT2R A1675G的AG基因型会增加感染组患COVID-19的风险(OR = 3.50,95% CI = 1.18-10.3;OR = 2.49,95% CI = 1.39-4.48;OR = 3.08,95% CI = 1.28-7.38):这些结果表明,在土耳其人群中,COVID-19 肺部受累的更高频率与 AA 基因型、ACE2 G8790A 的 A 等位基因和 AT2R A1675G 的 AG 基因型有关。
{"title":"Evaluation of the relationship between <i>ACE2 G8790A</i> and <i>AT2R A1675G</i> gene polymorphisms in COVID-19 patients with and without lung involvement.","authors":"Raziye Akcilar, Fatma Emel Kocak, Fatih Kar, Ozben Ozden Isiklar, Sahinde Atlanoglu, Ozlem Genc, Fatima Yaman","doi":"10.2478/abm-2024-0022","DOIUrl":"10.2478/abm-2024-0022","url":null,"abstract":"<p><strong>Background: </strong>The SARS-CoV-2 virus produces severe acute respiratory syndrome. The severity of coronavirus disease 2019 (COVID-19) infection is determined by a number of factors, including inherited ones.</p><p><strong>Objectives: </strong>Our goal is to investigate the link between <i>ACE2 G8790A</i> (rs2285666) and <i>AT2R A1675G</i> (rs14035430) gene polymorphisms in COVID-19 patients with and without lung involvement.</p><p><strong>Methods: </strong>A total of 160 COVID-19 patients were divided into 2 groups based on their clinical symptoms: those without lung involvement (control group) and those with lung involvement (infected group). The <i>ACE2 G8790A</i> and <i>AT2R A1675G</i> gene polymorphisms were analyzed using the PCR-RFLP methods.</p><p><strong>Results: </strong>The GG genotype, G allele of <i>ACE2 G8790A</i>, and GG genotype of <i>AT2R A1675G</i> were significantly higher in the control group and had a protective effect against COVID-19 as well as decreased the development of lung involvement (OR = 0.29, 95% CI = 0.10-0.84; OR = 0.40, 95% CI = 0.22-0.72; and OR = 0.33, 95% CI = 0.14-0.78, respectively). Moreover, we found that the AA genotype, A allele of <i>ACE2 G8790A</i>, and AG genotype of <i>AT2R A1675G</i> increased the risk of COVID-19 in the infected group (OR = 3.50, 95% CI = 1.18-10.3; OR = 2.49, 95% CI = 1.39-4.48; and OR = 3.08, 95% CI = 1.28-7.38, respectively).</p><p><strong>Conclusions: </strong>These results revealed that a greater frequency of COVID-19 lung involvement in the Turkish population was connected with the AA genotype, the A allele of <i>ACE2 G8790A</i>, and the AG genotype of <i>AT2R A1675G</i>.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 4","pages":"157-170"},"PeriodicalIF":0.4,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: The prognosis for relapsed or refractory childhood cancer is approximately 20%. Genetic alterations are one of the significant contributing factors to the prognosis of patients.
Objective: To investigate the molecular profile of relapsed or refractory childhood cancers in Thai cases.
Methods: The study design is a descriptive study of patients <18 years old, suspected or diagnosed of relapsed or refractory childhood cancer who underwent whole exome sequencing (WES).
Results: WES was successfully performed in both the tumor and the blood or saliva samples obtained from 4 unrelated patients. Six different variants were identified in the NCOR2, COL6A3, TP53, and SMAD4 genes. These alterations were found to be associated with tumor aggressiveness.
Conclusion: This study is the first one to demonstrate genetic alterations by using WES in relapsed or refractory childhood cancer in Thai cases.
{"title":"Whole exome sequencing in relapsed or refractory childhood cancer: case series.","authors":"Rungroj Thangpong, Pattarin Nuwongsri, Chupong Ittiwut, Rungnapa Ittiwut, Chureerat Phokaew, Piti Techavichit, Kanya Suphapeetiporn","doi":"10.2478/abm-2024-0025","DOIUrl":"10.2478/abm-2024-0025","url":null,"abstract":"<p><strong>Background: </strong>The prognosis for relapsed or refractory childhood cancer is approximately 20%. Genetic alterations are one of the significant contributing factors to the prognosis of patients.</p><p><strong>Objective: </strong>To investigate the molecular profile of relapsed or refractory childhood cancers in Thai cases.</p><p><strong>Methods: </strong>The study design is a descriptive study of patients <18 years old, suspected or diagnosed of relapsed or refractory childhood cancer who underwent whole exome sequencing (WES).</p><p><strong>Results: </strong>WES was successfully performed in both the tumor and the blood or saliva samples obtained from 4 unrelated patients. Six different variants were identified in the <i>NCOR2</i>, <i>COL6A3</i>, <i>TP53</i>, and <i>SMAD4</i> genes. These alterations were found to be associated with tumor aggressiveness.</p><p><strong>Conclusion: </strong>This study is the first one to demonstrate genetic alterations by using WES in relapsed or refractory childhood cancer in Thai cases.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 4","pages":"186-191"},"PeriodicalIF":0.4,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-20eCollection Date: 2024-08-01DOI: 10.2478/abm-2024-0024
Piyanop Nuchanat, Komsing Methavigul
Background: Data about prediction of left main coronary artery disease (LMCAD)/three-vessel disease (TVD) in patients with chronic coronary syndromes (CCS) are lacking.
Objectives: This study aimed to develop a model for predicting patients at risk of LMCAD/TVD.
Methods: This study used retrospective data from patients with CCS scheduled for invasive coronary angiography (ICA) and who were retrospectively recruited between January 2018 and December 2020. Predictors were obtained and analyzed by using logistic regression analysis, and generated the prediction score. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. The cut-off value and area under the curve (AUC) were analyzed by using the receiver operating characteristic (ROC) curve.
Results: We recruited 162 patients with CCS. There were 75 patients in the non-LMCAD/TVD and 87 patients in the LMCAD/TVD groups. After the multivariate analysis, new onset of heart failure (HF) or left ventricular systolic dysfunction (LVSD) and suspected CAD, ST elevation (STE) in aVR, STE in V1 and lateral ST depression (STD) were associated with increased risk of LMCAD/TVD. Based on these 4 predictors, the prediction score was created. The cut-off value of the prediction score by using ROC curve analysis was 3.0. The sensitivity, specificity, PPV, and NPV were 71.26%, 86.67%, 86.11%, and 72.22%, respectively, with an AUC of 0.855.
Conclusions: The CCS patients with new onset of HF or LVSD and suspected CAD, STE in aVR, and STE in V1 and lateral STD were associated with increased risk of LMCAD/TVD. The novel prediction score could predict LMCAD/TVD in those patients with acceptable sensitivity, specificity, PPV, and NPV.
{"title":"Predictive model for left main coronary artery or triple vessel disease in patients with chronic coronary syndromes.","authors":"Piyanop Nuchanat, Komsing Methavigul","doi":"10.2478/abm-2024-0024","DOIUrl":"10.2478/abm-2024-0024","url":null,"abstract":"<p><strong>Background: </strong>Data about prediction of left main coronary artery disease (LMCAD)/three-vessel disease (TVD) in patients with chronic coronary syndromes (CCS) are lacking.</p><p><strong>Objectives: </strong>This study aimed to develop a model for predicting patients at risk of LMCAD/TVD.</p><p><strong>Methods: </strong>This study used retrospective data from patients with CCS scheduled for invasive coronary angiography (ICA) and who were retrospectively recruited between January 2018 and December 2020. Predictors were obtained and analyzed by using logistic regression analysis, and generated the prediction score. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. The cut-off value and area under the curve (AUC) were analyzed by using the receiver operating characteristic (ROC) curve.</p><p><strong>Results: </strong>We recruited 162 patients with CCS. There were 75 patients in the non-LMCAD/TVD and 87 patients in the LMCAD/TVD groups. After the multivariate analysis, new onset of heart failure (HF) or left ventricular systolic dysfunction (LVSD) and suspected CAD, ST elevation (STE) in aVR, STE in V<sub>1</sub> and lateral ST depression (STD) were associated with increased risk of LMCAD/TVD. Based on these 4 predictors, the prediction score was created. The cut-off value of the prediction score by using ROC curve analysis was 3.0. The sensitivity, specificity, PPV, and NPV were 71.26%, 86.67%, 86.11%, and 72.22%, respectively, with an AUC of 0.855.</p><p><strong>Conclusions: </strong>The CCS patients with new onset of HF or LVSD and suspected CAD, STE in aVR, and STE in V<sub>1</sub> and lateral STD were associated with increased risk of LMCAD/TVD. The novel prediction score could predict LMCAD/TVD in those patients with acceptable sensitivity, specificity, PPV, and NPV.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 4","pages":"180-185"},"PeriodicalIF":0.4,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-20eCollection Date: 2024-08-01DOI: 10.2478/abm-2024-0020
{"title":"Prediction of the severity of patients with chronic coronary syndrome.","authors":"","doi":"10.2478/abm-2024-0020","DOIUrl":"10.2478/abm-2024-0020","url":null,"abstract":"","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 4","pages":"146-147"},"PeriodicalIF":0.4,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-20eCollection Date: 2024-08-01DOI: 10.2478/abm-2024-0021
Siti Nornazihah Mohd Rosdi, Suzuanhafizan Omar, Mazira Mohamad Ghazali, Ab Rahman Izaini Ghani, Abdul Aziz Mohamed Yusoff
Chiari malformation type 1 (CM 1) entails a structural defect in the cerebellum, involving the herniation of cerebellar tonsils toward the foramen magnum. The symptomatic or asymptomatic nature of CM 1 is contingent upon the condition of malformation in the spinal cord. This review presents an updated perspective on the prevalence of CM 1, its pathogenesis, genetic associations, and treatment. CM 1 exhibits a higher prevalence in adult females than males. Despite the incomplete understanding of the exact cause of CM 1, recent research suggests the involvement of both genetic and environmental factors in its development. One of the reasons for the occurrence of CM 1 in individuals is the smaller posterior cranial fossa, which manifests as typical morphological features. Additionally, environmental factors can potentially interact with genetic factors, modifying the observable characteristics of the disease and affecting the symptoms, severity, and development of the condition. Notably, headaches, neck pain, dizziness, and neurological deficits may be exhibited by individuals with CM 1, highlighting the importance of early diagnosis. Magnetic resonance imaging (MRI) serves as an alternative diagnostic technique for monitoring the symptoms of CM 1. Multiple genetic factors are likely to contribute to a cascade of abnormalities in CM 1. Early studies provided evidence, including clustering within families, bone development, and co-segregation with known genetic syndromes, establishing CM 1's association with a genetic basis. Furthermore, surgery is the only available treatment option to alleviate symptoms or hinder the progression of damage to the central nervous system (CNS) in CM 1 cases.
奇拉氏畸形 1 型(CM 1)是一种小脑结构缺陷,涉及小脑扁桃体向枕骨大孔疝出。CM 1 的无症状或无症状取决于脊髓畸形的情况。本综述从最新角度介绍了 CM 1 的发病率、发病机制、遗传关联和治疗方法。CM 1 在成年女性中的发病率高于男性。尽管对 CM 1 的确切病因尚不完全清楚,但最近的研究表明,遗传和环境因素都参与了其发病过程。CM 1 发生的原因之一是个体的后颅窝较小,表现为典型的形态特征。此外,环境因素有可能与遗传因素相互作用,改变疾病的可观察特征,影响疾病的症状、严重程度和发展。值得注意的是,CM1 患者可能会表现出头痛、颈部疼痛、头晕和神经功能缺损,这凸显了早期诊断的重要性。磁共振成像(MRI)是监测 CM 1 症状的另一种诊断技术。 多种遗传因素可能导致 CM 1 的一系列异常。早期研究提供的证据包括家族聚集、骨骼发育以及与已知遗传综合征的共分离,从而确立了 CM 1 与遗传基础的关联。此外,在 CM 1 病例中,手术是缓解症状或阻止中枢神经系统(CNS)损伤进展的唯一可用治疗方案。
{"title":"Exploring pathogenesis, prevalence, and genetic associations in Chiari malformation type 1: a contemporary perspective.","authors":"Siti Nornazihah Mohd Rosdi, Suzuanhafizan Omar, Mazira Mohamad Ghazali, Ab Rahman Izaini Ghani, Abdul Aziz Mohamed Yusoff","doi":"10.2478/abm-2024-0021","DOIUrl":"10.2478/abm-2024-0021","url":null,"abstract":"<p><p>Chiari malformation type 1 (CM 1) entails a structural defect in the cerebellum, involving the herniation of cerebellar tonsils toward the foramen magnum. The symptomatic or asymptomatic nature of CM 1 is contingent upon the condition of malformation in the spinal cord. This review presents an updated perspective on the prevalence of CM 1, its pathogenesis, genetic associations, and treatment. CM 1 exhibits a higher prevalence in adult females than males. Despite the incomplete understanding of the exact cause of CM 1, recent research suggests the involvement of both genetic and environmental factors in its development. One of the reasons for the occurrence of CM 1 in individuals is the smaller posterior cranial fossa, which manifests as typical morphological features. Additionally, environmental factors can potentially interact with genetic factors, modifying the observable characteristics of the disease and affecting the symptoms, severity, and development of the condition. Notably, headaches, neck pain, dizziness, and neurological deficits may be exhibited by individuals with CM 1, highlighting the importance of early diagnosis. Magnetic resonance imaging (MRI) serves as an alternative diagnostic technique for monitoring the symptoms of CM 1. Multiple genetic factors are likely to contribute to a cascade of abnormalities in CM 1. Early studies provided evidence, including clustering within families, bone development, and co-segregation with known genetic syndromes, establishing CM 1's association with a genetic basis. Furthermore, surgery is the only available treatment option to alleviate symptoms or hinder the progression of damage to the central nervous system (CNS) in CM 1 cases.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"18 4","pages":"148-156"},"PeriodicalIF":0.4,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}