Personalized medicine最新文献

Efficacy of trastuzumab deruxtecan in treating HER2-low breast cancer leptomeningeal metastasis: a case report. 曲妥珠单抗德鲁司康治疗 HER2 低乳腺癌脑转移瘤的疗效：病例报告。

Personalized medicine Pub Date : 2024-11-20 DOI: 10.1080/17410541.2024.2423601

Zeni Kharel, Sarah Stanford, Lauryn E Hemminger, Tyler Schmidt, Sara J Hardy, Jason Zittel, Nimish A Mohile, Ajay Dhakal

{"title":"Efficacy of trastuzumab deruxtecan in treating HER2-low breast cancer leptomeningeal metastasis: a case report.","authors":"Zeni Kharel, Sarah Stanford, Lauryn E Hemminger, Tyler Schmidt, Sara J Hardy, Jason Zittel, Nimish A Mohile, Ajay Dhakal","doi":"10.1080/17410541.2024.2423601","DOIUrl":"https://doi.org/10.1080/17410541.2024.2423601","url":null,"abstract":"accepted at SABCS 2023, poster presented at SABCS 2023We report the efficacy of trastuzumab deruxtecan (T-DXd) in treating human epidermal growth factor receptor 2 (HER2) low, type ID leptomeningeal breast cancer (LMD) (with positive cerebrospinal fluid [CSF] cytology and hydrocephalus as the only abnormal imaging finding) and the diagnostic and monitoring utilization of a novel microfluidic platform called CNSide™. Breast cancer LMD is associated with poor prognosis, and effective treatments are lacking. Our case highlights two crucial aspects related to the treatment and monitoring of breast cancer LMD. First, T-DXd was chosen based on immunocytochemistry (IHC) data from CSF malignant cells and follow-up revealed effectiveness of T-DXd in treating HER2-low LMD. While the efficacy of T-DXd has been established in treating metastatic HER2-low breast cancer, our case represents, to our knowledge, the first demonstration of T-DXd's effectiveness in HER2-low breast cancer LMD. Second, since this is type 1D LMD with absence of unequivocal measurable radiological disease in both the central nervous system (CNS) and extra-CNS, we employed a novel microfluidic CSF assay to monitor disease response. This novel assay outperformed standard CSF cytology in our case. There is an urgent need to develop CSF tumor cell assessment tool that surpasses the capabilities of conventional CSF cytology.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142678138","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

Lung cancer, platinum analog-based frontline treatment and pharmacogenetic limitations. 肺癌、以铂类药物为基础的一线治疗和药物遗传学限制。

Personalized medicine Pub Date : 2024-11-19 DOI: 10.1080/17410541.2024.2391269

Maryam Saqib, Zari Salahud Din, Sehrish Zafar, Nayla Munawar, Rukhsana Nawaz, Sagheer Ahmed, Mohammad Hamid Hamdard

引用次数: 0

The rs2275738 variant of the adiponectin receptor 1 gene is associated with biopsy-proven nonalcoholic fatty liver disease. 脂肪素受体 1 基因的 rs2275738 变体与活检证实的非酒精性脂肪肝有关。

Personalized medicine Pub Date : 2024-10-29 DOI: 10.1080/17410541.2024.2413354

Mitra Rostami, Touraj Mahmoudi, Abbas Ardalani, Amirhesam Mashaollahi, Nikta Zafarjafarzadeh, Aidin Mahban, Kosar Babaeian Roshani, Fatemeh Ghasemi, Zahra Ourang, Atefeh Dehghanitafti, Helia Sadat Kaboli, Gholamreza Rezamand, Asadollah Asadi, Reza Dabiri, Hossein Nobakht, Seidamir Pasha Tabaeian, Mohammad Reza Zali

{"title":"The rs2275738 variant of the adiponectin receptor 1 gene is associated with biopsy-proven nonalcoholic fatty liver disease.","authors":"Mitra Rostami, Touraj Mahmoudi, Abbas Ardalani, Amirhesam Mashaollahi, Nikta Zafarjafarzadeh, Aidin Mahban, Kosar Babaeian Roshani, Fatemeh Ghasemi, Zahra Ourang, Atefeh Dehghanitafti, Helia Sadat Kaboli, Gholamreza Rezamand, Asadollah Asadi, Reza Dabiri, Hossein Nobakht, Seidamir Pasha Tabaeian, Mohammad Reza Zali","doi":"10.1080/17410541.2024.2413354","DOIUrl":"10.1080/17410541.2024.2413354","url":null,"abstract":"Aim: Nonalcoholic fatty liver disease (NAFLD) is a significant health issue worldwide. This study investigated the effect of the adiponectin receptor 1 gene (ADIPOR1) polymorphism on susceptibility to NAFLD.Methods: Data from 330 participants, including 165 biopsy-proven NAFLD patients and 165 healthy controls, were collected. The PCR-RFLP method was used to detect the genotypes of ADIPOR1 rs2275738 or T-106C variant.Results: The \"CC\" genotype of the ADIPOR1 rs2275738 polymorphism, compared with the \"TT\" genotype and the \"C\" allele, compared with the \"T\" allele, are markers of increased NAFLD susceptibility (p = 0.018; OR = 2.07, 95% CI = 1.43-2.01 and p = 0.041; OR = 1.52, 95% CI = 1.24-2.35, respectively).Conclusion: This research suggests, for the first time, that the ADIPOR1 rs2275738 \"CC\" genotype is associated with a 107% increased risk for biopsy-proven NAFLD.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142524010","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

Introduction of a single-nucleotide variant, rs16851030, into the ADORA1 gene increased cellular susceptibility to hypoxia. 在 ADORA1 基因中引入单核苷酸变体 rs16851030 会增加细胞对缺氧的敏感性。

Personalized medicine Pub Date : 2024-10-23 DOI: 10.1080/17410541.2024.2412514

Poh Kuan Wong, Saiful Effendi Syafruddin, Fook Choe Cheah, Norazrina Azmi, Pei Yuen Ng, Eng Wee Chua

{"title":"Introduction of a single-nucleotide variant, rs16851030, into the ADORA1 gene increased cellular susceptibility to hypoxia.","authors":"Poh Kuan Wong, Saiful Effendi Syafruddin, Fook Choe Cheah, Norazrina Azmi, Pei Yuen Ng, Eng Wee Chua","doi":"10.1080/17410541.2024.2412514","DOIUrl":"https://doi.org/10.1080/17410541.2024.2412514","url":null,"abstract":"Aim: Rs16851030, a single-nucleotide variant located in the 3'-untranslated region of the ADORA1 gene, has been proposed as a potential marker of caffeine sensitivity in apnea of prematurity. Besides, it is associated with aspirin-induced asthma and the development of acute chest syndrome. However, its functional significance is still unconfirmed. This study aimed to elucidate the functional impact of rs16851030 by using CRISPR/Cas9 approach to induce the DNA variant and attendant physiological changes.Methods: Rs16851030 was introduced into HEK293 cells via homology-directed repair (HDR). Edited cells were fluorescence-enriched, sorted, isolated, and expanded into single-cell-derived clones. The edit was confirmed by Sanger sequencing. RNA sequencing was used to analyze affected pathways.Results: Rs16851030-mutant cells showed increased susceptibility to hypoxia, a condition related to apnea of prematurity. After 24 h of hypoxia, the viability of mutant clones 1 and 2 was low compared with wild-type cells (75.45% and 74.47% vs. 96.34%). RNA sequencing revealed transcriptomic changes linked to this increased vulnerability.Conclusion: Rs16851030 impairs cellular resistance to hypoxia, suggesting its role in conditions like apnea of prematurity. Further research should investigate the molecular mechanisms and transcriptomic alterations caused by rs16851030 under hypoxic conditions.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-14"},"PeriodicalIF":0.0,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515567","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

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

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

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 RYR1 or CACNA1S 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":"Background: Statins are commonly used medications. Variants in SLCO1B1, CYP2C9, and ABCG2 are known predictors of muscle effects when taking statins. More exploratory genes include RYR1 and CACNA1S, which can also be associated with disease conditions. Methods: Patients with pathogenic/likely pathogenic variants in RYR1 or CACNA1S 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. Results: Of the 23 patients who had a pathogenic or likely pathogenic RYR1 or CACNA1S variant found, 12 had previous statin use; of these, SAMS were identified in four patients. Conclusion: These data contribute to previous literature suggesting patients with RYR1 variants may have an increased SAMS risk. Additional research will be helpful in further investigating this relationship and providing recommendations.","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":"Background: 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. Methods: We used the summary data-based Mendelian randomization method to integrate CRC genome-wide association studies (ncase = 7062; ncontrol = 195,745) and expression quantitative trait loci 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. Results: Genes ABTB1, CYP21A2, NLRP1, PHKG1 and PIP5K1C 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. Conclusion: We successfully identified five CRC risk genes, providing new insights and research directions for the effective mechanisms of CRC.","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

引用次数: 0