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The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy. 3776 名越南妊娠期临床异常胎儿染色体畸变的遗传情况。
Personalized medicine Pub Date : 2024-04-04 DOI: 10.2217/pme-2023-0113
D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang
{"title":"The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.","authors":"D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang","doi":"10.2217/pme-2023-0113","DOIUrl":"https://doi.org/10.2217/pme-2023-0113","url":null,"abstract":"Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"76 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140741524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population. 在中国汉族男性人群中初步研究已发现的新的 HAPE 风险易感基因位点。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-28 DOI: 10.1080/17410541.2024.2365617
Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin
{"title":"Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population.","authors":"Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin","doi":"10.1080/17410541.2024.2365617","DOIUrl":"10.1080/17410541.2024.2365617","url":null,"abstract":"<p><p>High altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema. In recent years, association studies have become the main method for identifying HAPE genetic loci. A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom™). Eight overlapping candidate loci in <i>CCNG2</i>, <i>RP11-445O3.2</i>, <i>NUPL1</i> and <i>WWOX</i> were finally selected. <i>In silico</i> functional analyses displayed the PPI network, functional enrichment and signal pathways related to <i>CCNG2</i>, <i>NUPL1</i>, <i>WWOX</i> and <i>NRXN1</i>. This study provides data supplements for HAPE susceptibility gene loci and new insights into HAPE susceptibility.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"227-241"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141474155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Incidence of statin-associated muscle symptoms in patients taking statins with RYR1 or CACNA1S variants. 服用他汀类药物并伴有 RYR1 或 CACNA1S 变异的患者中他汀类药物相关肌肉症状的发生率。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-05-09 DOI: 10.1080/17410541.2024.2342223
Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom
{"title":"Incidence of statin-associated muscle symptoms in patients taking statins with <i>RYR1</i> or <i>CACNA1S</i> variants.","authors":"Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom","doi":"10.1080/17410541.2024.2342223","DOIUrl":"10.1080/17410541.2024.2342223","url":null,"abstract":"<p><p><b>Background:</b> Statins are commonly used medications. Variants in <i>SLCO1B1</i>, <i>CYP2C9</i>, and <i>ABCG2</i> are known predictors of muscle effects when taking statins. More exploratory genes include <i>RYR1</i> and <i>CACNA1S</i>, which can also be associated with disease conditions. <b>Methods:</b> Patients with pathogenic/likely pathogenic variants in <i>RYR1</i> or <i>CACNA1S</i> were identified through an elective genomic testing program. Through chart review, patients with a history of statin use were assessed for statin-associated muscle symptoms (SAMS) along with collection of demographics and other known risk factors for SAMS. <b>Results:</b> Of the 23 patients who had a pathogenic or likely pathogenic <i>RYR1</i> or <i>CACNA1S</i> variant found, 12 had previous statin use; of these, SAMS were identified in four patients. <b>Conclusion:</b> These data contribute to previous literature suggesting patients with <i>RYR1</i> variants may have an increased SAMS risk. Additional research will be helpful in further investigating this relationship and providing recommendations.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"145-150"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data. 通过整合全基因组关联研究和表达定量性状位点数据，确定五个基因为结直肠癌的预后标记物。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-02-21 DOI: 10.2217/pme-2023-0103
Cuizhen Zhang, Wenjie Huang, Wanjie Niu, Huiying Yang, Yingyi Zheng, Xuan Gao, Xiaoyan Qiu
{"title":"Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data.","authors":"Cuizhen Zhang, Wenjie Huang, Wanjie Niu, Huiying Yang, Yingyi Zheng, Xuan Gao, Xiaoyan Qiu","doi":"10.2217/pme-2023-0103","DOIUrl":"10.2217/pme-2023-0103","url":null,"abstract":"<p><p><b>Background:</b> Colorectal cancer (CRC) is a prominent form of cancer globally, ranking second in terms of prevalence and serving as a leading cause of cancer-related deaths, but the underlying biological interpretation remains largely unknown. <b>Methods:</b> We used the summary data-based Mendelian randomization method to integrate CRC genome-wide association studies (n<sub>case</sub> = 7062; n<sub>control</sub> = 195,745) and expression quantitative trait <i>loci</i> summary data in peripheral whole blood (Consortium for Architecture of Gene Expression: n = 2765; Genotype-Tissue Expression [v8]: n = 755) and colon tissue (colon-transverse: n = 406; colon-sigmoid: n = 373) and identified related genes. <b>Results:</b> Genes <i>ABTB1</i>, <i>CYP21A2</i>, <i>NLRP1</i>, <i>PHKG1</i> and <i>PIP5K1C</i> have emerged as significant prognostic markers for CRC patient survival. Functional analysis revealed their involvement in cancer cell migration and invasion mechanisms, providing valuable insights for the development of future anti-CRC drugs. <b>Conclusion:</b> We successfully identified five CRC risk genes, providing new insights and research directions for the effective mechanisms of CRC.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"103-116"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139914372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Helping patients understand multi-cancer early detection tests: a scoping review. 帮助患者了解多种癌症早期检测试验：范围界定综述。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-01-25 DOI: 10.2217/pme-2023-0090
Martha Paige Greene, Jason L Vassy
{"title":"Helping patients understand multi-cancer early detection tests: a scoping review.","authors":"Martha Paige Greene, Jason L Vassy","doi":"10.2217/pme-2023-0090","DOIUrl":"10.2217/pme-2023-0090","url":null,"abstract":"<p><p>Multi-cancer early detection tests are emerging as a revolutionary technology for the early detection of dozens of cancers from a single blood sample, including cancers without proven screening methods. However, they also come with challenges, including false-positive and false-negative results. To help patients make informed decisions, patient education materials are crucial. A review of available materials reveals that, while some materials provide understandable and actionable information, most lack a balanced presentation of the current benefits and risks of multi-cancer early detection testing. The dynamic nature of this field necessitates continuous updates to educational materials, incorporating current evidence and uncertainties.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"131-137"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139547891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Looking back over 2023 and welcome to the 21st issue of Personalized Medicine. 回顾 2023 年，欢迎阅读第 21 期《个性化医学》。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-20 DOI: 10.2217/pme-2023-0147
Sarah Jones
{"title":"Looking back over 2023 and welcome to the 21<sup>st</sup> issue of <i>Personalized Medicine</i>.","authors":"Sarah Jones","doi":"10.2217/pme-2023-0147","DOIUrl":"10.2217/pme-2023-0147","url":null,"abstract":"","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis. VDR BsmI 位点的基因检测及其在骨质疏松症患者合理用药中的作用。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-21 DOI: 10.1080/17410541.2024.2366152
Yu Huang, Nan Qiu, Yunna Wang, Wanjun Ouyang, Miao Liang
{"title":"Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis.","authors":"Yu Huang, Nan Qiu, Yunna Wang, Wanjun Ouyang, Miao Liang","doi":"10.1080/17410541.2024.2366152","DOIUrl":"10.1080/17410541.2024.2366152","url":null,"abstract":"<p><p><b>Aim:</b> This paper determines the polymorphism distribution of the <i>VDR BsmI</i> gene in 350 patients and provides medication recommendations for osteoporosis based on detection results. <b>Materials & methods:</b> Chi-square tests compared genotype and allele frequencies with other populations. <b>Results:</b> Genotype frequencies were 91.66 bb, 8.72 Bb and 0.21% BB, with allelic frequencies of 95.43 b and 4.57% B, adhering to Hardy-Weinberg equilibrium. These findings suggest that <i>VDR</i> gene polymorphisms, particularly at the BsmIlocus, play an essential role in bone health and osteoporosis treatment. Genotype-based drug selection reduced adverse reactions from 14 to two cases. <b>Conclusion:</b> These findings improve clinical treatment efficacy and guide rational drug use for osteoporosis patients.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"219-225"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141433679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Classification and immunotherapy assessment of lung adenocarcinoma based on coagulation-related genes. 基于凝血相关基因的肺腺癌分类及免疫治疗评估。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-01 DOI: 10.2217/pme-2023-0094
Yi Zhou, Wangju Fan, Jian Zhou, Shengjie Zhong, Jun Yang, Yanxia Zhong, Guoxiong Huang
{"title":"Classification and immunotherapy assessment of lung adenocarcinoma based on coagulation-related genes.","authors":"Yi Zhou, Wangju Fan, Jian Zhou, Shengjie Zhong, Jun Yang, Yanxia Zhong, Guoxiong Huang","doi":"10.2217/pme-2023-0094","DOIUrl":"10.2217/pme-2023-0094","url":null,"abstract":"<p><p><b>Introduction:</b> This study on lung adenocarcinoma (LUAD), a common lung cancer subtype with high mortality. <b>Aims:</b> This study focuses on how tumor cell interactions affect immunotherapy responsiveness. <b>Methods:</b> Using public databases, we used non-negative matrix factorization clustering method, ssGSEA, CIBERSORT algorithm, immunophenotype score, survival analysis, protein-protein interaction network method to analyze gene expression data and coagulation-related genes. <b>Results:</b> We divided LUAD patients into three coagulation-related subgroups with varying immune characteristics and survival rates. A cluster of three patients, having the highest immune infiltration and survival rate, also showed the most potential for immunotherapy. We identified five key genes influencing patient survival using a protein-protein interaction network. <b>Conclusion:</b> This research offers valuable insights for forecasting prognosis and immunotherapy responsiveness in LUAD patients, helping to inform clinical treatment strategies.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"29-44"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138465252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The roots of (in)equity in precision medicine: gaps in the discourse. 精准医疗（不）公平的根源：话语中的差距。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 10.2217/pme-2023-0097
Sara Green, Barbara Prainsack, Maya Sabatello
{"title":"The roots of (in)equity in precision medicine: gaps in the discourse.","authors":"Sara Green, Barbara Prainsack, Maya Sabatello","doi":"10.2217/pme-2023-0097","DOIUrl":"10.2217/pme-2023-0097","url":null,"abstract":"","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10784620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recent advances in personalized cancer immunotherapy with immune checkpoint inhibitors, T cells and vaccines. 利用免疫检查点抑制剂、T 细胞和疫苗进行个性化癌症免疫疗法的最新进展。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-13 DOI: 10.2217/pme-2023-0054
Elnaz Faghfuri
{"title":"Recent advances in personalized cancer immunotherapy with immune checkpoint inhibitors, T cells and vaccines.","authors":"Elnaz Faghfuri","doi":"10.2217/pme-2023-0054","DOIUrl":"10.2217/pme-2023-0054","url":null,"abstract":"<p><p>The results of genomic and molecular profiling of cancer patients can be effectively applied to immunotherapy agents, including immune checkpoint inhibitors, to select the most appropriate treatment. In addition, accurate prediction of neoantigens facilitates the development of individualized cancer vaccines and T-cell therapy. This review summarizes the biomarker(s) predicting responses to immune checkpoint inhibitors and focuses on current strategies to identify and isolate neoantigen-reactive T cells as well as the clinical development of neoantigen-based therapeutics. The results suggest that maximal T-cell stimulation and expansion can be achieved with combination therapies that enhance antigen-presenting cells' function and optimal T-cell priming in lymph nodes.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"45-57"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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