Personalized medicinePub Date : 2022-05-01Epub Date: 2022-02-17DOI: 10.2217/pme-2021-0152
Vacis Tatarunas, Ali Aldujeli, Zemyna Kurnickaite, Laurynas Maciulevicius, Marius Burkanas, Jonas Venius, Ieva Ciapiene, Vilius Skipskis, Rita Norvilaite, Agne Giedraitiene, Ramunas Unikas, Giedre Baksyte, Olivija Gustiene, Gintare Sakalyte, Vaiva Lesauskaite
{"title":"Blood direct PCR: impact of <i>CYP2C19</i> and <i>CYP4F2</i> variants for bleeding prediction in ST-elevation myocardial infarction patients with ticagrelor.","authors":"Vacis Tatarunas, Ali Aldujeli, Zemyna Kurnickaite, Laurynas Maciulevicius, Marius Burkanas, Jonas Venius, Ieva Ciapiene, Vilius Skipskis, Rita Norvilaite, Agne Giedraitiene, Ramunas Unikas, Giedre Baksyte, Olivija Gustiene, Gintare Sakalyte, Vaiva Lesauskaite","doi":"10.2217/pme-2021-0152","DOIUrl":"https://doi.org/10.2217/pme-2021-0152","url":null,"abstract":"<p><p><b>Aims:</b> The goals of this study were to develop a new technique that could pave the way for a quicker determination of <i>CYP4F2</i> rs3093135 and <i>CYP2C19</i> rs4244285 variants directly from a patient's blood and to attempt to apply this technique in clinical practice. <b>Patients & methods:</b> The study included 144 consecutive patients admitted with ST elevation myocardial infarction. A blood-direct PCR and real-time PCR were used to detect variants of interest. <b>Results & conclusion:</b> Patients with bleeding events had the <i>CYP2C19</i> GG (*1*1) variant more frequently than patients without bleeding events. The <i>CYP4F2</i> TT variant was more frequently detected in patients with bleeding events 3 months after hospitalization.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 3","pages":"207-217"},"PeriodicalIF":2.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39928624","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":"<i>SKA3</i>, negatively regulated by <i>miR-128-3p</i>, promotes the progression of non-small-cell lung cancer.","authors":"Linlin Xie, Shaofei Cheng, Zhengyang Fan, Hongyang Sang, Qianping Li, Song Wu","doi":"10.2217/pme-2020-0095","DOIUrl":"https://doi.org/10.2217/pme-2020-0095","url":null,"abstract":"Aim: To investigate the effects of SKA3 on cell proliferation and metastasis in non-small-cell lung cancer (NSCLC) and its underlying mechanism. Methods: Immunohistochemistry was employed to analyze the expression of SKA3 in NSCLC. CCK-8 assay, EdU assay, Transwell assay and flow cytometry analysis were employed to assess cell proliferation, metastatic potential and apoptosis in vitro, respectively. A lung metastasis model was used to evaluate metastasis of NSCLC cells in vivo. A luciferase reporter gene assay was conducted to verify the targeting relationship. Results: SKA3 exhibited high expression in NSCLC tissues and cells. Overexpression of SKA3 remarkably accelerated cell proliferation and metastasis and suppressed apoptosis of NSCLC cells and promoted lung metastasis in a mouse model. miR-128-3p repressed SKA3 expression by targeting it. Conclusion: miR-128-3p inhibited the progression of NSCLC through targeting SKA3.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 3","pages":"193-205"},"PeriodicalIF":2.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39425147","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}
A. Limkakeng, L. Rowlette, A. Hatch, A. Nixon, O. Ilkayeva, D. Corcoran, J. Modliszewski, S. M. Griffin, G. Ginsburg, D. Voora
{"title":"A precision medicine approach to stress testing using metabolomics and microribonucleic acids.","authors":"A. Limkakeng, L. Rowlette, A. Hatch, A. Nixon, O. Ilkayeva, D. Corcoran, J. Modliszewski, S. M. Griffin, G. Ginsburg, D. Voora","doi":"10.2217/pme-2021-0021","DOIUrl":"https://doi.org/10.2217/pme-2021-0021","url":null,"abstract":"Both transcriptomics and metabolomics hold promise for identifying acute coronary syndrome (ACS) but they have not been used in combination, nor have dynamic changes in levels been assessed as a diagnostic tool. We assessed integrated analysis of peripheral blood miRNA and metabolite analytes to distinguish patients with myocardial ischemia on cardiac stress testing. We isolated and quantified miRNA and metabolites before and after stress testing from seven patients with myocardial ischemia and 1:1 matched controls. The combined miRNA and metabolomic data were analyzed jointly in a supervised, dimension-reducing discriminant analysis. We implemented a baseline model (T0) and a stress-delta model. This novel integrative analysis of the baseline levels of metabolites and miRNA expression showed modest performance for distinguishing cases from controls. The stress-delta model showed worse performance. This pilot study shows potential for an integrated precision medicine approach to cardiac stress testing.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45780431","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}
Coimbatore Subburaj Thiruvenkataswamy, M. Appukutty, K. S. Vimaleswaran
{"title":"Role of precision nutrition in improving military performance.","authors":"Coimbatore Subburaj Thiruvenkataswamy, M. Appukutty, K. S. Vimaleswaran","doi":"10.2217/pme-2021-0120","DOIUrl":"https://doi.org/10.2217/pme-2021-0120","url":null,"abstract":"Graphical abstract [Formula: see text] Role of precision nutrition in improving military performance.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49388425","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}
Patcharaphun Kidpun, Warit Ruanglertboon, R. Chalongsuk
{"title":"State-of-the-art knowledge on the regulation of advanced therapy medicinal products.","authors":"Patcharaphun Kidpun, Warit Ruanglertboon, R. Chalongsuk","doi":"10.2217/pme-2021-0111","DOIUrl":"https://doi.org/10.2217/pme-2021-0111","url":null,"abstract":"Advanced therapy medicinal products (ATMPs) constitute therapeutic agents based on obtained cells, tissues or genes representing a novel treatment opportunity in medicine. In addition, ATMPs are administered into the cells or tissues of humans from the patient's own cells, donors, or genetically modified cells. Recently, the field of developing ATMPs has become a point of attention due to the clinical efficacy expected in defeating incurable diseases such as cancers and neurodegenerative disorders. Currently, there are two modes regarding the distribution of ATMPs. First, ATMPs that might be legally authorized for marketing. Second, the patients are able to access unapproved ATMPs through the hospital exemption (HE) or clinical practice program or through the compassionate use and expanded access program. The aim of this review is to discuss state-of-the-art knowledge on the regulation of ATMPs and provide regulatory recommendations.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45924052","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}
S. Moorthie, A. Hall, Chantal Babb de Villiers, Joanna Janus, Tanya Brigden, Laura Blackburn, M. Kroese
{"title":"How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?","authors":"S. Moorthie, A. Hall, Chantal Babb de Villiers, Joanna Janus, Tanya Brigden, Laura Blackburn, M. Kroese","doi":"10.2217/pme-2021-0148","DOIUrl":"https://doi.org/10.2217/pme-2021-0148","url":null,"abstract":"As common low penetrance variants associated with diseases are uncovered, attempts continue to be made to harness this knowledge for improving healthcare. Polygenic scores have been developed as the mechanism by which knowledge of common variants can be used to investigate genetic contributions to disease risk. They serve as a biomarker to provide an estimate of the genetic liability for a particular disease. Discussion continues as to whether polygenic scores are a useful biomarker and their readiness for incorporation into clinical and public health practice. In this paper, we investigate the key challenges that need to be addressed, in the description and assessment of the clinical utility of polygenic score-based tests for use in clinical and public health practice.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47165117","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}
Estela Sangüesa, Christine Cirujeda, Julia Concha, P. Padilla, C. García, M. Ribate
{"title":"Exploring the usefulness of plasma level determination and pharmacogenetics for patients treated with clozapine.","authors":"Estela Sangüesa, Christine Cirujeda, Julia Concha, P. Padilla, C. García, M. Ribate","doi":"10.2217/pme-2021-0029","DOIUrl":"https://doi.org/10.2217/pme-2021-0029","url":null,"abstract":"Aims: The aims of the present study were to assess the variance of plasma clozapine (CLZ) levels and to identify the influence of sociodemographic and pharmacogenetic factors on it and to introduce these tools in a clinical setting. Patients & methods: CLZ concentration was measured and genetic variants of CLZ pharmacokinetic and pharmacodynamic factors were assessed in 23 patients with psychotic disorders. Results: A significant association between mean concentration/dose ratio (C/D) and smoking status, age and weight were found. There was a significant difference in mean plasma CLZ levels and gender. The rs762551 AA genotype in smokers had a significantly lower C/D. Conclusion: In addition to classical factors, monitoring of plasma concentrations together with pharmacogenetics led to greater individualization of treatment.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"1 1","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41651554","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":"Interindividual variability in diabetic patients' response to opium poppy: an overview of impressive factors.","authors":"Fatemeh Hendijani, Fatemeh Sadat Hosseini","doi":"10.2217/pme-2021-0107","DOIUrl":"https://doi.org/10.2217/pme-2021-0107","url":null,"abstract":"<p><p>Diabetic patients always seek alternative treatments to lower their blood glucose level efficiently, because antidiabetic drugs produce adverse effects and many patients experience reduced response after a treatment period. Opium poppy (<i>Papaver somniferum</i>) is frequently consumed by diabetic patients for reduction of blood glucose level. Scientific studies found controversial results in the investigation of the blood glucose-lowering effects of opium poppy. In this regard, we explored the antidiabetic effect of opium poppy more closely. The antidiabetic or antihyperglycemic effect of <i>P. somniferum</i> alkaloids were reviewed. Next, opioid receptors and their role in diabetes were explored. In the final part origins of interindividual variabilities in opioid receptors and metabolizing enzymes' functions including genetic and epigenetic factors were reviewed.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 2","pages":"155-163"},"PeriodicalIF":2.3,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9547356","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":"Investigating underlying human immunity genes, implicated diseases and their relationship to COVID-19","authors":"Zeeshan Ahmed, E. G. Renart, Saman Zeeshan","doi":"10.2217/pme-2021-0132","DOIUrl":"https://doi.org/10.2217/pme-2021-0132","url":null,"abstract":"Aim: A human immunogenetics variation study was conducted in samples collected from diverse COVID-19 populations. Materials & methods: Whole-genome and whole-exome sequencing (WGS/WES), data processing, analysis and visualization pipeline were applied to identify variants associated with genes of interest. Results: A total of 2886 mutations were found across the entire set of 13 genomes. Functional annotation of the gene variants revealed mutation type and protein change. Many variants were found to be biologically implicated in COVID-19. The involvement of these genes was also found in multiple other diseases. Conclusion: The analysis determined that ACE2, TMPRSS4, TMPRSS2, SLC6A20 and FYCOI had functional implications and TMPRSS4 was the gene most altered in virally infected patients.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46020576","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}
Personalized medicinePub Date : 2022-01-01Epub Date: 2021-12-09DOI: 10.2217/pme-2021-0088
Glenda Hoffecker, Genevieve P Kanter, Yao Xu, William Matthai, Daniel M Kolansky, Jay Giri, Sony Tuteja
{"title":"Interventional cardiologists' attitudes towards pharmacogenetic testing and impact on antiplatelet prescribing decisions.","authors":"Glenda Hoffecker, Genevieve P Kanter, Yao Xu, William Matthai, Daniel M Kolansky, Jay Giri, Sony Tuteja","doi":"10.2217/pme-2021-0088","DOIUrl":"https://doi.org/10.2217/pme-2021-0088","url":null,"abstract":"<p><p><b>Aim:</b> To determine if interventional cardiologists' knowledge and attitudes toward pharmacogenetic (PGx) testing influenced their antiplatelet prescribing decisions in response to <i>CYP2C19</i> results. <b>Materials & methods:</b> Surveys were administered prior to participating in a randomized trial of <i>CYP2C19</i> testing. Associations between baseline knowledge/attitudes and agreement with the genotype-guided antiplatelet recommendations were determined using multivariable logistic regression. <b>Results:</b> 50% believed that PGx testing would be valuable to predict medication toxicity or efficacy. 64% felt well informed about PGx testing and its therapeutic application. However, PGx experience, knowledge, nor attitudes were significantly associated with agreement to genotype-guided antiplatelet recommendations. <b>Conclusion:</b> Cardiologists' knowledge and attitudes were not associated with <i>CYP2C19-</i>guided antiplatelet prescribing, but larger studies should be done to confirm this finding.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 1","pages":"41-49"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39794457","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}