Personalized medicine最新文献_第2页

How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability. 正在进行基因组测序的人们如何解释和应对可操作性有限的各种次要发现。

Personalized medicine Pub Date : 2025-04-01 Epub Date: 2025-03-18 DOI: 10.1080/17410541.2025.2476392

Haoyang Yan, Christine M Rini, Ann Katherine M Foreman, Jonathan S Berg, Gail E Henderson, Kristy Lee, Julianne M O'Daniel, Myra Roche, Margaret Waltz

{"title":"How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.","authors":"Haoyang Yan, Christine M Rini, Ann Katherine M Foreman, Jonathan S Berg, Gail E Henderson, Kristy Lee, Julianne M O'Daniel, Myra Roche, Margaret Waltz","doi":"10.1080/17410541.2025.2476392","DOIUrl":"10.1080/17410541.2025.2476392","url":null,"abstract":"Purpose: To investigate patient reactions to and understanding of secondary genomic findings with limited to no medical actionability (LMA-SFs) from diagnostic genome sequencing.Methods: We analyzed LMA-SFs returned to 47 adults who elected to receive a broad set of these results from 6 categories. Findings indicated elevated risk (reportable/positive) or not (negative/normal). Most participants (N = 43) also completed surveys to report their distress, decision regret, expected health anxiety, and whether and how they perceived results as reassuring or troubling.Results: Most participants received some reportable LMA-SFs for common risk, pharmacogenetic, and carrier status variants. Fewer received reportable APOE haplotype or monogenetic condition variants. None received results indicating high risk for severe neurological disease. Overall, participants (76.7% female, 97.7% White) had low distress, decision regret, and expected health anxiety. None described negative/normal findings as troubling. However, their interpretations of reportable/positive results varied. Even within the same result type, some participants found them troubling, while others found them reassuring based on their perception of the results' utility.Conclusion: Participants' short-term well-being was not reduced by receiving LMA-SFs. Their interpretations suggested varied personal utilities and the need for post-test resources to aid understanding of these types of results and their health significance.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"93-101"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143660190","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 correlation between the polymorphism of lysolecithin acyltransferase (MBOAT7) rs641738 and liver fibrosis. 溶卵磷脂酰基转移酶（MBOAT7） rs641738多态性与肝纤维化的相关性。

Personalized medicine Pub Date : 2025-04-01 Epub Date: 2025-03-07 DOI: 10.1080/17410541.2025.2476379

Yuxia Yang, Xiang Chen, Huiqin Zhang, Gang Yang, Xiaoyun Zhu, Xiujing Si, Feilong Chen, Yan Zhao, Feng Jin, Juanjuan Lu

{"title":"The correlation between the polymorphism of lysolecithin acyltransferase (MBOAT7) rs641738 and liver fibrosis.","authors":"Yuxia Yang, Xiang Chen, Huiqin Zhang, Gang Yang, Xiaoyun Zhu, Xiujing Si, Feilong Chen, Yan Zhao, Feng Jin, Juanjuan Lu","doi":"10.1080/17410541.2025.2476379","DOIUrl":"10.1080/17410541.2025.2476379","url":null,"abstract":"Objective: We aimed to explore the relationship between the MBOAT7 rs641738 gene polymorphism and liver fibrosis and inflammation.Methods: A total of 214 patients with metabolic dysfunction-associated steatotic liver disease (MASLD) were allocated into the mild-to-moderate and severe liver fibrosis groups based on liver fibrosis degree. The genotypes at the MBOAT7 rs641738 locus were evaluated. Differences in clinical and biochemical indicators, as well as the genotype and allele frequency distributions of the MBOAT7 rs641738 polymorphism, were analyzed across groups with varying degrees of liver fibrosis. Additionally, the clinical and biochemical differences among patients with different genotypes were examined.Results: Significant differences were observed in the distribution of CC, CT, and TT genotypes, as well as C and T allele frequencies at the MBOAT7 rs641738 locus, between patients with mild-to-moderate and severe fibrosis. Carriers of the CT + TT genotype had a higher risk of developing severe liver fibrosis compared to those with the CC genotype (OR > 1). Furthermore, CT + TT carriers had higher levels of inflammatory cytokines and more severe fibrosis than CC genotype carriers (all p < 0.05).Conclusion: The MBOAT7 rs641738 gene polymorphism is associated with the severity of liver fibrosis and inflammation.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"113-119"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143589026","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

Head-to-head comparison of tyrosine kinase inhibitors in renal cell carcinoma using patient-derived cell culture. 酪氨酸激酶抑制剂在肾细胞癌患者来源的细胞培养中的头对头比较。

Personalized medicine Pub Date : 2025-04-01 Epub Date: 2025-03-03 DOI: 10.1080/17410541.2025.2473303

Aaron J Urquhart, Christian H Glass, Tyrone L R Humphries, Andrew J Kassianos, David A Vesey, Simon T Wood, Glenda C Gobe, Robert J Ellis

{"title":"Head-to-head comparison of tyrosine kinase inhibitors in renal cell carcinoma using patient-derived cell culture.","authors":"Aaron J Urquhart, Christian H Glass, Tyrone L R Humphries, Andrew J Kassianos, David A Vesey, Simon T Wood, Glenda C Gobe, Robert J Ellis","doi":"10.1080/17410541.2025.2473303","DOIUrl":"10.1080/17410541.2025.2473303","url":null,"abstract":"Background: Metastatic renal cell carcinoma (RCC) is often treated with a combination of immunotherapy and tyrosine kinase inhibitors (TKIs). Patient-derived RCC cells were cultured and inter-individual differences to treatment with a panel of TKIs were evaluated.Methods: Tumor tissue was collected during nephrectomy. Cells were cultured and treated with a panel of clinically relevant TKIs (sunitinib, cabozantinib, pazopanib, axitinib) at concentrations of 5 µM for 48-72 hours. Cell viability was evaluated using MTT assays. One-sided T-tests were used to evaluate results.Results: Patient-derived cancer cells were able to be grown beyond 10 passages from 12/38 samples collected (27%). Four patient-derived samples were tested against the TKI panel. No substantial difference between drugs was seen for two samples. In one sample, there was a clear superior response to sunitinib (48% mean viability, vs >75% for the other drugs). For the final sample, sunitinib, cabozantinib, and axitinib demonstrated a superior response compared with pazopanib (71%, 77%, 70%, and 85% mean viability, respectively).Conclusions: Inter-individual variability in the responses of patient-derived RCC cultures to TKIs was seen, which may have biological and clinical significance. Future directions could build on this work to develop personalized cancer susceptibility profiles, with potential for translation into a clinical trial.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"83-91"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143545522","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

Individualized psychiatric care: integration of therapeutic drug monitoring, pharmacogenomics, and biomarkers. 精神科个体化护理：治疗药物监测、药物基因组学和生物标志物的整合。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-20 DOI: 10.1080/17410541.2024.2442897

Sara Salatin, Ali Reza Shafiee-Kandjani, Samin Hamidi, Akbar Amirfiroozi, Parinaz Kalejahi

引用次数: 0

Genetic and non-genetic factors influencing the therapeutic response of valproic acid in pediatric epileptic patients. 影响小儿癫痫患者丙戊酸治疗反应的遗传和非遗传因素。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-22 DOI: 10.1080/17410541.2024.2441655

Changsong Wu, Jianghuan Zheng, Yanling Pan, Ruyu Tao, Zhijun Zhong, Chaozhi Qian, Heng Liang, Haijun Wu

{"title":"Genetic and non-genetic factors influencing the therapeutic response of valproic acid in pediatric epileptic patients.","authors":"Changsong Wu, Jianghuan Zheng, Yanling Pan, Ruyu Tao, Zhijun Zhong, Chaozhi Qian, Heng Liang, Haijun Wu","doi":"10.1080/17410541.2024.2441655","DOIUrl":"10.1080/17410541.2024.2441655","url":null,"abstract":"Aims: Considerable inter-individual variability in the efficacy of valproic acid (VPA) has been reported, with approximately 20-45% of patients failing to achieve satisfactory seizure control after VPA monotherapy. The aim of this study was to investigate the influence of non-genetic and genetic factors on 12-month VPA-response in a cohort of 194 pediatric patients.Materials & methods: Trough concentrations were determined, and a panel of 48 variants located in pharmacokinetic and pharmacodynamic gene were genotyped.Results: Aetiology was highlighted as a significant factor for the response to VPA. Specifically, patients with idiopathic epilepsy demonstrated poorer 12-month outcomes (p < 0.001). Trough VPA concentrations did not significantly affect outcomes. Marginal association was found between VPA efficacy and the following genetic variants: GABRA1 rs10068980 (p = 0.02), SLC16A1 rs7169 (p = 0.02), ABCC2 rs1885301 (p = 0.092), ACADM rs1251079 (p = 0.061) and GABRA1 rs6883877 (p = 0.085), as indicated by Fisher's exact test. A significant cumulative effect of two genetic factors (GABRA1 rs10068980 and SLC16A1 rs7169) was observed after a multiple logistic analysis, with ORs of 2.828 (1.213, 6.594) and 4.066 (1.148,14.398), respectively.Conclusion: Our study indicated that GABRA1 rs10068980 and SLC16A1 rs7169 might serve as potential biomarkers for predicting the 12-month VPA treatment outcomes in pediatric patients with epilepsy.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"11-19"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879447","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

Personalized medicine in colorectal cancer: a comprehensive study of precision diagnosis and treatment. 结直肠癌个体化医疗：精准诊断与治疗的综合研究。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2025-02-09 DOI: 10.1080/17410541.2025.2459050

Fatemeh Gila, Somayeh Khoddam, Zahra Jamali, Mohmmad Ghasemian, Shayan Shakeri, Zeinab Dehghan, Jafar Fallahi

{"title":"Personalized medicine in colorectal cancer: a comprehensive study of precision diagnosis and treatment.","authors":"Fatemeh Gila, Somayeh Khoddam, Zahra Jamali, Mohmmad Ghasemian, Shayan Shakeri, Zeinab Dehghan, Jafar Fallahi","doi":"10.1080/17410541.2025.2459050","DOIUrl":"10.1080/17410541.2025.2459050","url":null,"abstract":"Colorectal cancer is a common and fatal disease that affects many people globally. CRC is classified as the third most prevalent cancer among males and the second most frequent cancer among females worldwide. The purpose of this article is to examine how personalized medicine might be used to treat colorectal cancer. The classification of colorectal cancer based on molecular profiling, including the detection of significant gene mutations, genomic instability, and gene dysregulation, is the main topic of this discussion. Advanced technologies and biomarkers are among the detection methods that are explored, demonstrating their potential for early diagnosis and precise prognosis. In addition, the essay explores the world of treatment possibilities by providing light on FDA-approved personalized medicine solutions that provide individualized and precise interventions based on patient characteristics. This article assesses targeted treatments like cetuximab and nivolumab, looks at the therapeutic usefulness of biomarkers like microsatellite instability (MSI) and circulating tumor DNA (ctDNA), and investigates new approaches to combat resistance. Through this, our review provides a thorough overview of personalized medicine in the context of colorectal cancer, ultimately highlighting its potential to revolutionize the field and improve patient care.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"59-81"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384585","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 effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis. AKT1基因多态性对PE易感性的影响：病例对照研究和计算机分析。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-31 DOI: 10.1080/17410541.2024.2446006

Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi

{"title":"The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.","authors":"Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi","doi":"10.1080/17410541.2024.2446006","DOIUrl":"10.1080/17410541.2024.2446006","url":null,"abstract":"Background: Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.Aim: This study investigated the effects of AKT1 polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.Methods: The PCR-RFLP method was employed to genotype AKT1 rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.Results: The AKT1 rs1130233 variant was associated with an increased risk of PE in log-additive and allelic models. A significant relationship was also observed between the rs1130214 variant and PE risk in several genetic models. Results from the SpliceAid2 server indicated that the rs2494732 A to G substitution creates a new binding site for the SRP-40 protein. Several key protein binding sites were lost for rs1130214 (C-to-A) and rs1130233 (C-to-T) mutations. However, RNAsnp analysis did not show significant changes in secondary structure.Conclusion: In conclusion, the AKT1 rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"22 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143443138","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

Pharmacogenomics education in China and the United States: advancing personalized medicine. 中国和美国的药物基因组学教育：推进个性化医疗。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-14 DOI: 10.1080/17410541.2024.2441651

Quanlin Wang, Shusen Sun, Wei Zhang, Dan Cao, Yisu Jin

引用次数: 0

Technological advances in clinical individualized medication for cancer therapy: from genes to whole organism. 临床个体化治疗癌症的技术进展：从基因到整个生物体。

Personalized medicine Pub Date : 2025-02-01 Epub Date: 2025-01-07 DOI: 10.1080/17410541.2024.2447224

Jiejing Kai, Xueling Liu, Meijia Wu, Pan Liu, Meihua Lin, Hongyu Yang, Qingwei Zhao

引用次数: 0

A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report. 主动脉瘤和主动脉夹层家族史患者的新型 TGFβR2 剪接变体：病例报告。

Personalized medicine Pub Date : 2024-04-18 DOI: 10.2217/pme-2023-0135

Cecilia Vecoli, I. Foffa, Simona Vittorini, N. Botto, Augusto Esposito, Sabrina Costa, Valeria Piagneri, P. Festa, L. Ait-Ali

引用次数: 0