Personalized medicinePub Date : 2023-03-01Epub Date: 2023-01-27DOI: 10.2217/pme-2021-0156
Esmat Abdi, Saeid Latifi-Navid
{"title":"Long noncoding RNA polymorphisms and hepatocellular carcinoma and pancreatic cancer risk.","authors":"Esmat Abdi, Saeid Latifi-Navid","doi":"10.2217/pme-2021-0156","DOIUrl":"10.2217/pme-2021-0156","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) and pancreatic cancer (PC) are among serious malignancies with no proper biomarker suffering from poor prognosis and late onset. Regulation of long noncoding RNAs (lncRNAs) is disturbed in tumors, making them appropriate diagnostic markers or therapeutic targets in systemic therapies. The expression and function of some significant lncRNAs are under the influence of SNPs, highlighting their key role in carcinogenesis. This review assesses the associations between SNPs in lncRNAs and HCC and PC risk. A panel of cancer-associated SNPs in lncRNA genes could help evaluate the clinical use of lncRNAs, including their role as diagnostic markers and therapeutic targets. Nonetheless, more large-scale surveys on various ethnic groups are required to validate results.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"193-200"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321063","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}
Ruihao Xin, Xin Feng, Hang Zhang, Yueying Wang, Meiyu Duan, Tunyang Xie, Lin Dong, Qiong Yu, Lan Huang, Fengfeng Zhou
{"title":"Seven non-differentially expressed 'dark biomarkers' show transcriptional dysregulation in chronic lymphocytic leukemia.","authors":"Ruihao Xin, Xin Feng, Hang Zhang, Yueying Wang, Meiyu Duan, Tunyang Xie, Lin Dong, Qiong Yu, Lan Huang, Fengfeng Zhou","doi":"10.2217/pme-2022-0123","DOIUrl":"https://doi.org/10.2217/pme-2022-0123","url":null,"abstract":"<p><p><b>Aim:</b> Transcriptional regulation is actively involved in the onset and progression of various diseases. This study used the feature-engineering approach model-based quantitative transcription regulation to quantitatively measure the correlation between mRNA and transcription factors in a reference dataset of chronic lymphocytic leukemia (CLL) transcriptomes. <b>Methods:</b> A comprehensive investigation of transcriptional regulation changes in CLL was conducted using 973 samples in six independent datasets. <b>Results & conclusion:</b> Seven mRNAs were detected to have significantly differential model-based quantitative transcription regulation values but no differential expression between CLL patients and controls. We called these genes 'dark biomarkers' because their original expression levels did not show differential changes in the CLL patients. The overlapping lncRNAs might have contributed their transcripts to the expression miscalculations of these dark biomarkers.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"143-155"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321061","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}
Serdar Celik, Ozde Gokbayrak, Aylin Erol, Kutsal Yorukoglu, Tekincan Aktas, Hilmi Sari, Batuhan Yilmaz, Mehmet Ugur Mungan, Guven Aslan, Ilhan Celebi, Zekiye Altun, Tugba Yavuzsen, Safiye Aktas
{"title":"Anna Karenina principle in personalized treatment of bladder cancer according to oncogram: which drug for which patient?","authors":"Serdar Celik, Ozde Gokbayrak, Aylin Erol, Kutsal Yorukoglu, Tekincan Aktas, Hilmi Sari, Batuhan Yilmaz, Mehmet Ugur Mungan, Guven Aslan, Ilhan Celebi, Zekiye Altun, Tugba Yavuzsen, Safiye Aktas","doi":"10.2217/pme-2022-0134","DOIUrl":"https://doi.org/10.2217/pme-2022-0134","url":null,"abstract":"<p><p><b>Aim:</b> To evaluate the <i>ex vivo</i> efficacy of chemotherapy, immunotherapy and targeted agents with the oncogram method in patients with bladder cancer and determine the most appropriate personalized treatment agent using immune markers. <b>Materials & methods:</b> Bladder cancer tissues were obtained from each patient. After cultivation, cell cultures were divided into 12 groups for each patient and 11 drugs were administered. Cell viability and immunohistochemistry expression were examined. <b>Results:</b> A good response rate was determined to be a 23% viability drop. The nivolumab good response rate was slightly better in PD-L1-positive patients and the ipilimumab good response rate was slightly better in tumoral CTLA-4-positive cases. Interestingly, the cetuximab response was worse in EGFR-positive cases. <b>Conclusion:</b> Although good responses of drug groups after their <i>ex vivo</i> application by using oncogram were found to be higher than control group, this outcome differed on a per patient basis.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 2","pages":"175-182"},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10321565","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":"Content highlights of the year: a look over 2022 at <i>Personalized Medicine</i>.","authors":"Sarah Jones","doi":"10.2217/pme-2022-0135","DOIUrl":"https://doi.org/10.2217/pme-2022-0135","url":null,"abstract":"","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"1-3"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9558293","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":"Refining personalized diagnosis, treatment and exploitation of hypothyroidism related to solid nonthyroid cancer.","authors":"Maria V Deligiorgi, Dimitrios T Trafalis","doi":"10.2217/pme-2022-0052","DOIUrl":"https://doi.org/10.2217/pme-2022-0052","url":null,"abstract":"<p><p>Hypothyroidism in the setting of cancer is a puzzling entity due to the dual role of the thyroid hormones (TH) in cancer - promoting versus inhibitory - and the complexity of the hypothyroidism itself. The present review provides a comprehensive overview of the personalized approach to hypothyroidism in patients with solid nonthyroid cancer, focusing on current challenges, unmet needs and future perspectives. Major electronic databases were searched from January 2011 until March 2022. The milestones of the refinement of such a personalized approach are prompt diagnosis, proper TH replacement and development of interventions and/or pharmaceutical agents to exploit hypothyroidism or, on the contrary, TH replacement as an anticancer strategy. Further elucidation of the dual role of TH in cancer - especially of the interference of TH signaling with the hallmarks of cancer - is anticipated to inform decision-making and optimize patient selection.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"87-105"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561399","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":"Pharmacogenomics of lipid-lowering agents: the impact on efficacy and safety.","authors":"Aymen Shatnawi, Zourayz Kamran, Qusai Al-Share","doi":"10.2217/pme-2022-0041","DOIUrl":"https://doi.org/10.2217/pme-2022-0041","url":null,"abstract":"<p><p>Hyperlipidemia is a significant risk factor for cardiovascular disease morbidity and mortality. The lipid-lowering drugs are considered the cornerstone of primary and secondary prevention of atherosclerotic cardiovascular disease. Unfortunately, the lack of efficacy and associated adverse effects, ranging from mild-to-moderate to potentially life-threatening, lead to therapy discontinuation. Numerous reports support the role of gene polymorphisms in drugs' pharmacokinetic parameters and their associated adverse reactions. Therefore, this study aims to understand the pharmacogenomics of lipid-lowering drugs and the impact of genetic variants of key genes on the drugs' efficacy and toxicity. Indeed, genetically guided lipid-lowering therapy enhances overall safety, improves drug adherence and achieves long-term therapy.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"65-86"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9611005","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}
Poornima Sivamani, Vishnu Eriyat, Sumith K Mathew, Ashish Singh, Rekha Aaron, Raju Titus Chacko, Anjana Joel, Ratna Prabha, Binu Susan Mathew
{"title":"Identification of <i>DPYD</i> variants and estimation of uracil and dihydrouracil in a healthy Indian population.","authors":"Poornima Sivamani, Vishnu Eriyat, Sumith K Mathew, Ashish Singh, Rekha Aaron, Raju Titus Chacko, Anjana Joel, Ratna Prabha, Binu Susan Mathew","doi":"10.2217/pme-2022-0042","DOIUrl":"https://doi.org/10.2217/pme-2022-0042","url":null,"abstract":"<p><p><b>Aim:</b> This study aimed to identify <i>DPYD</i> variants and the related but previously unexplored phenotype (plasma uracil, dihydrouracil [DHU], and the DHU-to-uracil ratio) in a healthy adult Indian population. <b>Methods:</b> Healthy adult volunteers (n = 100) had their uracil and DHU levels measured and were genotyped for selected variants. <b>Results:</b> Among the nine variants studied, c.1906-14763G>A and c.85T>C were the most prevalent. Participants with any of the variants except for c.85T>C and c.1627A>G had a significantly lower DHU-to-uracil ratio and those with c.1905+1G>A variant had significantly increased uracil concentration compared with wild-type. <b>Conclusion:</b> Participants with five variants were identified as having altered phenotypic measures, and 40% of the intermediate metabolizers had their phenotype in the terminal population percentiles.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"39-53"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9557865","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}
Cabrera Figueroa Se, Vásquez Remolcoy DA, Cisterna Castillo Pa, Fissore Troncoso Gc
{"title":"Aminoglycosides' dosage in hematological malignancies and febrile neutropenia: extended interval or conventional dosage?","authors":"Cabrera Figueroa Se, Vásquez Remolcoy DA, Cisterna Castillo Pa, Fissore Troncoso Gc","doi":"10.2217/pme-2022-0068","DOIUrl":"https://doi.org/10.2217/pme-2022-0068","url":null,"abstract":"<p><p>A patient with acute myeloid leukemia presented various episodes of febrile neutropenia, for which there was no positive response to antibiotic treatments. Following an episode of bacteremia by extensively drug-resistant <i>Klebsiella pneumoniae</i>, amikacin was prescribed, pharmacokinetic analyses of its plasma concentrations were performed and the dosage interval was narrowed to 12 and 8 h in order to counteract the reduced postantibiotic effect due to the patient being immunocompromised. The patient responded positively, with procalcitonin decreasing and body temperature normalizing. Recovery was finally achieved, without renal or auditory damage. This case proposes tightening dosage intervals for aminoglycosides as an effective strategy in immunocompromised patients. Aminoglycosides are given over extended intervals (24 h), considering concentration-dependent effectiveness, nephrotoxicity and postantibiotic effect. Leukocytes appear to play a determining role in the postantibiotic effect, with no proposed dosing strategy for strongly immunocompromised patients.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"5-11"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9635689","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":"Machine-learning models utilizing <i>CYP3A4*1G</i> show improved prediction of hypoglycemic medication in Type 2 diabetes.","authors":"Yi Yang, Xing-Yun Hou, Weiqing Ge, Xinye Wang, Yitian Xu, Wansheng Chen, Yaping Tian, Huafang Gao, Qian Chen","doi":"10.2217/pme-2022-0059","DOIUrl":"https://doi.org/10.2217/pme-2022-0059","url":null,"abstract":"<p><p>The effectiveness and side effects of Type 2 diabetes (T2D) medication are related to individual genetic background. SNPs <i>CYP3A4</i> and <i>CYP2C19</i> were introduced to machine-learning models to improve the performance of T2D medication prediction. Two multilabel classification models, ML-KNN and WRank-SVM, trained with clinical data and <i>CYP3A4</i>/<i>CYP2C19</i> SNPs were evaluated. Prediction performance was evaluated with Hamming loss, one-error, coverage, ranking loss and average precision. The average precision of ML-KNN and WRank-SVM using clinical data was 92.74% and 92.9%, respectively. Combined with <i>CYP2C19*2*3</i>, the average precision dropped to 88.84% and 89.93%, respectively. While combined with <i>CYP3A4*1G</i>, the average precision was enhanced to 97.96% and 97.82%, respectively. Results suggest that <i>CYP3A4*1G</i> can improve the performance of ML-KNN and WRank-SVM models in predicting T2D medication performance.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"27-37"},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561377","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 : 2023-01-01Epub Date: 2022-11-23DOI: 10.2217/pme-2022-0101
Susanne B Haga, Wendy K Chung, Luis A Cubano, Timothy B Curry, Philip E Empey, Geoffrey S Ginsburg, Kara Mangold, Christina Y Miyake, Siddharth K Prakash, Laura B Ramsey, Robb Rowley, Carolyn R Rohrer Vitek, Todd C Skaar, Julia Wynn, Teri A Manolio
{"title":"Development of Competency-based Online Genomic Medicine Training (COGENT).","authors":"Susanne B Haga, Wendy K Chung, Luis A Cubano, Timothy B Curry, Philip E Empey, Geoffrey S Ginsburg, Kara Mangold, Christina Y Miyake, Siddharth K Prakash, Laura B Ramsey, Robb Rowley, Carolyn R Rohrer Vitek, Todd C Skaar, Julia Wynn, Teri A Manolio","doi":"10.2217/pme-2022-0101","DOIUrl":"10.2217/pme-2022-0101","url":null,"abstract":"<p><p>The fields of genetics and genomics have greatly expanded across medicine through the development of new technologies that have revealed genetic contributions to a wide array of traits and diseases. Thus, the development of widely available educational resources for all healthcare providers is essential to ensure the timely and appropriate utilization of genetics and genomics patient care. In 2020, the National Human Genome Research Institute released a call for new proposals to develop accessible, sustainable online education for health providers. This paper describes the efforts of the six teams awarded to reach the goal of providing genetic and genomic training modules that are broadly available for busy clinicians.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"55-64"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9757790","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}