{"title":"CYP1A1 common gene polymorphisms and ischemic stroke risk: a meta-analysis and a structural examination.","authors":"Mohammad Karimian, Faezeh Karimnia","doi":"10.2217/pme-2022-0113","DOIUrl":"https://doi.org/10.2217/pme-2022-0113","url":null,"abstract":"<p><p><b>Aim:</b> CYP1A1 is a metabolizing enzyme and key polymorphisms in its gene may contribute to the risk of ischemic stroke. This study aimed to investigate the association of the rs4646903 and rs1048943 polymorphisms of <i>CYP1A1</i> with stroke risk in a meta-analysis and a bioinformatic approach. <b>Materials & methods:</b> An electronic search was conducted and, after the screening procedure, six eligible studies were included in the meta-analysis. Some bioinformatic tools were employed to analyze the effects of rs4646903 and rs1048943 on <i>CYP1A1</i> gene function. <b>Results:</b> There was a significant association between rs4646903 and the reduced risk of ischemic stroke, whereas there was no significant association for rs1048943. <i>In silico</i> analysis showed that rs4646903 and rs1048943 polymorphisms could affect the gene expression and cofactor affinity, respectively. <b>Conclusion:</b> Based on these results, rs4646903 may be a protective genetic factor against ischemic stroke.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 3","pages":"271-281"},"PeriodicalIF":2.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321564","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":"Preliminary radiogenomic study of hepatitis B virus-related hepatocellular carcinoma: associations between MRI features and mutations.","authors":"Shanshan Gao, Feihang Wang, Wei Sun, Xianling Qian, Yuan Ji, Yunfeng Cheng, Xiaolin Wang, Lingxiao Liu, Ruofan Sheng, Mengsu Zeng","doi":"10.2217/pme-2022-0093","DOIUrl":"https://doi.org/10.2217/pme-2022-0093","url":null,"abstract":"<p><p><b>Aim:</b> To investigate associations between MRI features and high-frequency mutations of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC). <b>Methods:</b> This study included 58 HCC patients who underwent contrast-enhanced MRI prior to surgical resection and genome sequencing. MRI features and mutation information were evaluated. <b>Results:</b> The top five most frequently mutated genes in HCC were <i>TP53</i> (53.45%), <i>TAF1</i> (24.14%), <i>PDE4DIP</i> (22.41%), <i>ABCA13</i> (18.97%) and <i>LRP1B</i> (17.24%). Mutations in <i>TP53</i> and <i>LRP1B</i> were associated with tumor necrosis (p = 0.035) and mosaic architecture (p = 0.015), respectively. Mutations in <i>ABCA13</i> were associated with mosaic architecture (p = 0.025) and necrosis (p = 0.010). <b>Conclusion:</b> This preliminary radiogenomics analysis showed associations between MRI features and high-frequency mutations in HBV-related HCCs.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 3","pages":"215-225"},"PeriodicalIF":2.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10305680","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}
Francesco Andrea Causio, Ilda Hoxhaj, Flavia Beccia, Marzia Di Marcantonio, Timo Strohäker, Chiara Cadeddu, Walter Ricciardi, Stefania Boccia
{"title":"Research and innovation in personalized medicine: a descriptive synthesis of actors in the EU and China.","authors":"Francesco Andrea Causio, Ilda Hoxhaj, Flavia Beccia, Marzia Di Marcantonio, Timo Strohäker, Chiara Cadeddu, Walter Ricciardi, Stefania Boccia","doi":"10.2217/pme-2023-0003","DOIUrl":"https://doi.org/10.2217/pme-2023-0003","url":null,"abstract":"<p><p><b>Aim:</b> Research and innovation (R&I) actors are fundamental in shortening the translational gap of personalized medicine in health systems. In the context of the 'Integrating China in the International Consortium for Personalized Medicine' project, we aimed to map the current landscape of R&I actors in the field of personalized medicine in the EU and China. <b>Methods:</b> A two-phase desk research study was conducted. <b>Results:</b> We identified 78 R&I actors. Research and technology organizations were the most frequent in both the EU and China. The identified R&I actors were active in a wide range of fields. The EU and China have many different R&I actors addressing personalized medicine-related issues, with few characteristics in common. <b>Conclusion:</b> More efforts are needed to ensure these R&I actors are encouraged to work together to bridge each other's gaps.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 3","pages":"227-238"},"PeriodicalIF":2.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321563","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}
Emem E Udoh, Melody Hermel, Murtaza I Bharmal, Aditi Nayak, Siddharth Patel, Mark Butlin, Sanjeev P Bhavnani
{"title":"Nanosensor technologies and the digital transformation of healthcare.","authors":"Emem E Udoh, Melody Hermel, Murtaza I Bharmal, Aditi Nayak, Siddharth Patel, Mark Butlin, Sanjeev P Bhavnani","doi":"10.2217/pme-2022-0065","DOIUrl":"https://doi.org/10.2217/pme-2022-0065","url":null,"abstract":"<p><p>Nanosensors are nanoscale devices that measure physical attributes and convert these signals into analyzable information. In preparation, for the impending reality of nanosensors in clinical practice, we confront important questions regarding the evidence supporting widespread device use. Our objectives are to demonstrate the value and implications for new nanosensors as they relate to the next phase of remote patient monitoring and to apply lessons learned from digital health devices through real-world examples.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 3","pages":"251-269"},"PeriodicalIF":2.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9950438","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}
Clint Johannes, Kelebogile E Moremi, Merlisa C Kemp, Lindiwe Whati, Penelope Engel-Hills, Martin Kidd, Ronald van Toorn, Mariaan Jaftha, Susan J van Rensburg, Maritha J Kotze
{"title":"Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis.","authors":"Clint Johannes, Kelebogile E Moremi, Merlisa C Kemp, Lindiwe Whati, Penelope Engel-Hills, Martin Kidd, Ronald van Toorn, Mariaan Jaftha, Susan J van Rensburg, Maritha J Kotze","doi":"10.2217/pme-2022-0016","DOIUrl":"https://doi.org/10.2217/pme-2022-0016","url":null,"abstract":"<p><p><b>Background:</b> Lipid metabolism may impact disability in people with multiple sclerosis (pwMS). <b>Methods:</b> Fifty-one pwMS entered an ultrasound and MRI study, of whom 19 had followed a pathology-supported genetic testing program for more than 10 years (pwMS-ON). Genetic variation, blood biochemistry, vascular blood flow velocities, diet and exercise were investigated. <b>Results:</b> pwMS-ON had significantly lower (p < 0.01) disability (Expanded Disability Status Scale) than pwMS not on the program (1.91 ± 0.75 vs 3.87 ± 2.32). A genetic variant in the lipid transporter <i>FABP2</i> gene (rs1799883; 2445G>A, A54T) was significantly associated (p < 0.01) with disability in pwMS not on the program, but not in pwMS-ON (p = 0.88). Vascular blood flow velocities were lower in the presence of the A-allele. <b>Conclusion:</b> Pathology-supported genetic testing may provide guidance for lifestyle interventions with a significant impact on improved disability in pwMS.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"107-130"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10010366","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}
Sayan Kumar Das, Ananyan Sampath, Sameer Uz Zaman, Ayan Kumar Pati, Shubham Atal
{"title":"Genetic predisposition for the development of lamotrigine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis: a systematic review and meta-analysis.","authors":"Sayan Kumar Das, Ananyan Sampath, Sameer Uz Zaman, Ayan Kumar Pati, Shubham Atal","doi":"10.2217/pme-2022-0126","DOIUrl":"https://doi.org/10.2217/pme-2022-0126","url":null,"abstract":"<p><p>Studies report an association between the expression of <i>HLA</i> alleles and lamotrigine (LTG)-induced Stevens-Johnson syndrome (SJS). This systematic review and meta-analysis evaluates the association between <i>HLA</i> alleles and LTG-induced SJS in different populations. Two alleles, <i>HLA-B*0702</i> and <i>HLA-C*0702</i>, were deemed to be protective; five alleles, <i>HLA-B*1502</i>, <i>HLA-B*4403</i>, <i>HLA-A*2402</i>, <i>CYP2C19*2</i> and <i>HLA-B*38</i>, may play a role in LTG-induced SJS, for which only data studying <i>HLA-B*1502</i> could be extracted. The pooled odds ratio of 2.88, 95% CI of 1.60-5.17 and p-value of 0.0004 establish the presence of <i>HLA-B*1502</i> as a major risk factor for the development of LTG-induced SJS/toxic epidermal necrolysis (TEN). Although multiple alleles that may play a role in the development of LTG-induced SJS/TEN were identified, the expression of the risk alleles may be ancestry-specific, and genetic screening is warranted for preventing this life-threatening adverse drug reaction.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"201-213"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321562","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}
Naleen Raj Bhandari, Lisa M Hess, Rohan C Parikh, Anthony N Sireci, Peter M Krein, James A Kaye
{"title":"Biomarker testing in patients diagnosed with advanced/metastatic medullary thyroid cancer in the USA.","authors":"Naleen Raj Bhandari, Lisa M Hess, Rohan C Parikh, Anthony N Sireci, Peter M Krein, James A Kaye","doi":"10.2217/pme-2022-0050","DOIUrl":"https://doi.org/10.2217/pme-2022-0050","url":null,"abstract":"<p><p><b>Aim:</b> To describe real-world testing patterns for <i>RET</i> in US patients with advanced/metastatic medullary thyroid cancer and determine consistency of real-world testing practices with national guidelines. <b>Materials & methods:</b> The authors performed a retrospective medical record analysis of patients with advanced/metastatic medullary thyroid cancer who initiated systemic therapy between 2013 and 2018. Seventy-five US-based oncologists collected the data using a customized electronic data collection form. <b>Results:</b> A total of 59.6% (121 of 203) of patients underwent testing for <i>RET</i>, and 37.2% (45 of 121) had a <i>RET</i> mutation, of which 55.6% were identified as <i>RET</i> mutation-positive before initial diagnosis. Overall, 90 (44.3%) patients were tested for biomarkers on or after initial diagnosis, with <i>RET</i> being the most tested (95.6%) biomarker. <b>Conclusion:</b> The authors' findings suggest an opportunity to improve testing rates in accordance with treatment guidelines.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"131-142"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9940105","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":"A visfatin gene promoter polymorphism (rs1319501) is associated with susceptibility to nonalcoholic fatty liver disease.","authors":"Touraj Mahmoudi, Donya Ghorbani, Gholamreza Rezamand, Niloufar Dehestan, Golnaz Jeddi, Asadollah Asadi, Hossein Nobakht, Reza Dabiri, Hamid Farahani, Seidamir Pasha Tabaeian, Mohammad Reza Zali","doi":"10.2217/pme-2022-0100","DOIUrl":"https://doi.org/10.2217/pme-2022-0100","url":null,"abstract":"<p><p><b>Background:</b> Considering the role of visfatin in nonalcoholic fatty liver disease (NAFLD), a growing global epidemic, this article explores the potential association between the visfatin gene (<i>NAMPT</i>) and NAFLD. <b>Methods:</b> We used the PCR-restriction fragment length polymorphism method to genotype the rs1319501 promoter variant of the <i>NAMPT</i> gene in 154 patients with biopsy-proven NAFLD and 158 controls in this case-control genetic association study. <b>Results:</b> The 'CC+TC' genotype of <i>NAMPT</i> rs1319501 in comparison to the 'TT' genotype occurred less frequently in the cases with NAFLD than the controls, and the difference remained significant after adjustment for confounding factors (p = 0.029; odds ratio = 0.55; 95% CI = 0.31-0.82). <b>Conclusion:</b> This study showed, for the first time, that the carriers of the <i>NAMPT</i> rs1319501 'CC+TC' genotype had a 45% decreased risk for NAFLD.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"157-165"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10003194","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":"Application of transcriptomics and proteomics in pulmonary arterial hypertension.","authors":"Jinrui Jiang, Siyun Liu, Huijuan Yang, Yingjie Lv, Ping Ma, Qingbin Xu, Ru Zhou","doi":"10.2217/pme-2023-0020","DOIUrl":"https://doi.org/10.2217/pme-2023-0020","url":null,"abstract":"<p><p>The onset and progression of pulmonary arterial hypertension (PAH), a malignant disease, are associated with environmental and epigenetic factors. Recent advancements in transcriptomics and proteomics technology have provided new insights into PAH and identified novel gene targets involved in the development of the disease. Transcriptomic analysis has led to the discovery of possible novel pathways, such as miR-483 targeting several PAH-related genes and a mechanistic link between the increase in <i>HERV-K</i> mRNA and protein. Proteomic analysis has revealed crucial details, including the loss of SIRT3 activity and the significance of the CLIC4/Arf6 pathway in PAH pathogenesis. Gene profiles and protein interaction networks of PAH have been analyzed, clarifying the roles of differentially expressed genes or proteins in the occurrence and development of PAH. This article discusses these recent advances.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"183-192"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10305676","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":"Correlation between plasma lncRNA <i>CASC11</i> and malignancy in lung adenocarcinoma patients and the prognostic value of lncRNA <i>CASC11</i>.","authors":"Xiaojuan Gu, Yanlin Zhang, Hao Xiong","doi":"10.2217/pme-2022-0104","DOIUrl":"https://doi.org/10.2217/pme-2022-0104","url":null,"abstract":"<p><p><b>Objective:</b> To study the connection between lncRNA <i>CASC11</i> plasma expression and clinical characteristics as well as prognoses of patients. <b>Methods:</b> Sixty lung adenocarcinoma (LUAD) patients and 60 healthy adults participated in this research. LncRNA <i>CASC11</i> expression was detected by quantitative real-time PCR and the relationships between lncRNA <i>CASC11</i> plasma expression and patient prognosis and clinical characteristics were analyzed. <b>Results:</b> LncRNA <i>CASC11</i> was highly expressed in LUAD tissues and plasma (p < 0.05). Receiver operating characteristic curve analysis indicated the diagnostic value of lncRNA <i>CASC11</i> in LUAD (p < 0.0001). Higher plasma lncRNA <i>CASC11</i> expression indicated worse patient prognoses (p < 0.05). Plasma lncRNA <i>CASC11</i> level was also closely related to tumor differentiation and tumor-node-metastasis stage (p < 0.05). <b>Conclusion:</b> Plasma lncRNA <i>CASC11</i> may be a potential biomarker for LUAD diagnosis and prognosis.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"167-173"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321058","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}