Pharmacogenomics & Personalized Medicine最新文献_第5页

Use of Continuous Glucose Monitors to Manage Type 1 Diabetes Mellitus: Progress, Challenges, and Recommendations. 使用连续血糖监测仪管理 1 型糖尿病：进展、挑战和建议。

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-03-31 eCollection Date: 2023-01-01 DOI: 10.2147/PGPM.S374663

Jared G Friedman, Zulma Cardona Matos, Emily D Szmuilowicz, Grazia Aleppo

引用次数: 0

Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation. 目前对FVIII药代动力学变异遗传修饰因子的认识。

IF 1.8 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-03-24 eCollection Date: 2023-01-01 DOI: 10.2147/PGPM.S383221

Laura L Swystun, David Lillicrap

{"title":"Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.","authors":"Laura L Swystun, David Lillicrap","doi":"10.2147/PGPM.S383221","DOIUrl":"10.2147/PGPM.S383221","url":null,"abstract":"The inherited bleeding disorder hemophilia A involves the quantitative deficiency of the coagulation cofactor factor VIII (FVIII). Prophylactic treatment of severe hemophilia A patients with FVIII concentrates aims to reduce the frequency of spontaneous joint bleeding and requires personalized tailoring of dosing regimens to account for the substantial inter-individual variability of FVIII pharmacokinetics. The strong reproducibility of FVIII pharmacokinetic (PK) metrics between repeat analyses in the same individual suggests this trait is genetically regulated. While the influence of plasma von Willebrand factor antigen (VWF:Ag) levels, ABO blood group, and patient age on FVIII PK is well established, estimates suggest these factors account for less than 35% of the overall variability in FVIII PK. More recent studies have identified genetic determinants that modify FVIII clearance or half-life including VWF gene variants that impair VWF-FVIII binding resulting in the accelerated clearance of VWF-free FVIII. Additionally, variants in receptors that regulate the clearance of FVIII or the VWF-FVIII complex have been associated with FVIII PK. The characterization of genetic modifiers of FVIII PK will provide mechanistic insight into a subject of clinical significance and support the development of personalized treatment plans for patients with hemophilia A.","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"239-252"},"PeriodicalIF":1.8,"publicationDate":"2023-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f1/1b/pgpm-16-239.PMC10046206.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9230529","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}

引用次数: 0

Massive Hepatocellular Carcinoma with Situs Inversus Totalis Achieved a Complete Response Following Camrelizumab Plus Apatinib and Combined with Two-Stage Hepatectomy: A Case Report. 巨大肝细胞癌伴有完全性肝脏病变，在康瑞珠单抗加阿帕替尼并联合两阶段肝切除术后获得完全应答：病例报告。

IF 1.8 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-02-07 eCollection Date: 2023-01-01 DOI: 10.2147/PGPM.S376596

Yining Wu, Shenjian Ou, Xiwen Liao, Chuangye Han, Chengkun Yang, Wei Qin, Yufeng Tan, Quan Lao, Tao Peng, Xinping Ye

{"title":"Massive Hepatocellular Carcinoma with Situs Inversus Totalis Achieved a Complete Response Following Camrelizumab Plus Apatinib and Combined with Two-Stage Hepatectomy: A Case Report.","authors":"Yining Wu, Shenjian Ou, Xiwen Liao, Chuangye Han, Chengkun Yang, Wei Qin, Yufeng Tan, Quan Lao, Tao Peng, Xinping Ye","doi":"10.2147/PGPM.S376596","DOIUrl":"10.2147/PGPM.S376596","url":null,"abstract":"Situs inversus totalis (SIT) is a rare congenital condition in which abdominal and thoracic organs are transposed from normal positions. Two-stage hepatectomy (TSH) combined with translational therapy for hepatocellular carcinoma (HCC) with SIT has been rarely reported. We report a 41-year-old man with giant hepatocellular carcinoma (71 mm × 55 mm × 51 mm) whose future residual liver (FLR) and standard liver volume (SLV) ratio at first diagnosis was 37.4%. Preoperative volume assessment of portal vein ligation (PVL) revealed inadequate hypertrophy of FLR. After a multidisciplinary group discussion (MDT), the patient decided to follow conversion therapy. Three months later, ratio of the FLR/SLV increased from 37.4% to 71% after operation, which met the surgical requirements. Second hepatectomy, right lobectomy was successful. There was no recurrence after six months of follow-up. In our case, conversion therapy appears to be effective in maintaining residual liver hyperplasia, reducing tumor load, and preventing tumor progression in patients with large HCC during TSH.","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"111-120"},"PeriodicalIF":1.8,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/45/pgpm-16-111.PMC9921441.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10713044","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}

引用次数: 0

Nidogen-2 (NID2) is a Key Factor in Collagen Causing Poor Response to Immunotherapy in Melanoma. Nidogen-2 (NID2)是导致黑色素瘤免疫治疗反应差的胶原蛋白的关键因素。

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI: 10.2147/PGPM.S399886

Yan Sha, An-Qi Mao, Yuan-Jie Liu, Jie-Pin Li, Ya-Ting Gong, Dong Xiao, Jun Huang, Yan-Wei Gao, Mu-Yao Wu, Hui Shen

{"title":"Nidogen-2 (NID2) is a Key Factor in Collagen Causing Poor Response to Immunotherapy in Melanoma.","authors":"Yan Sha, An-Qi Mao, Yuan-Jie Liu, Jie-Pin Li, Ya-Ting Gong, Dong Xiao, Jun Huang, Yan-Wei Gao, Mu-Yao Wu, Hui Shen","doi":"10.2147/PGPM.S399886","DOIUrl":"https://doi.org/10.2147/PGPM.S399886","url":null,"abstract":"Background: The incidence of cutaneous melanoma continues to rise rapidly and has an extremely poor prognosis. Immunotherapy strategies are the most effective approach for patients who have developed metastases, but not all cases have been successful due to the complex and variable mechanisms of melanoma response to immune checkpoint inhibition.Methods: We synthesized collagen-coding gene expression data (second-generation and single-cell sequencing) from public Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) databases. Bioinformatics analysis was performed using R software and several database resources such as Metascape database, Gene Set Cancer Analysis (GSCA) database, and Cytoscape software, etc., to investigate the biological mechanisms that may be related with collagens. Immunofluorescence and immunohistochemical staining were used to validate the expression and localization of Nidogen-2 (NID2).Results: Melanoma patients can be divided into two collagen clusters. Patients with high collagen levels (C1) had a shorter survival than those with low collagen levels (C2) and were less likely to benefit from immunotherapy. We demonstrated that NID2 is a potential key factor in the collagen phenotype, is involved in fibroblast activation in melanoma, and forms a barrier to limit the proximity of CD8+ T cells to tumor cells.Conclusion: We clarified the adverse effects of collagen on melanoma patients and identified NID2 as a potential therapeutic target.","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"153-172"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f4/b8/pgpm-16-153.PMC9994630.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9155229","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}

引用次数: 0

Pharmacogenetic Practice of Anticancer Drugs: Multiple Approaches for an Accurate and Comprehensive Genotyping. 抗癌药物的药物遗传学实践:精确和全面的基因分型的多种方法。

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI: 10.2147/PGPM.S412430

Cristina Montrasio, Stefania Cheli, Emilio Clementi

{"title":"Pharmacogenetic Practice of Anticancer Drugs: Multiple Approaches for an Accurate and Comprehensive Genotyping.","authors":"Cristina Montrasio, Stefania Cheli, Emilio Clementi","doi":"10.2147/PGPM.S412430","DOIUrl":"https://doi.org/10.2147/PGPM.S412430","url":null,"abstract":"The application of pharmacogenetics in oncology is part of the routine clinical practice. In particular, genotyping of dihydropyrimidine dehydrogenase (DPYD) and UDP-glucuronosyltransferase (UGT1A1) is crucial to manage the treatment of patients taking fluoropyrimidines and irinotecan. The unique approach of our laboratory to the pharmacogenetic diagnostic service in oncology is to combine two real-time PCR methods, LightSNiP assay (TIB MOLBIOL), and more recently FRET (Fluorescent Resonance Energy Transfer) probes technology (Nuclear Laser Medicine), plus TaqMan assay (Thermo Fisher) for the confirmation of the presence of variant alleles on DNA from a second extraction. We found that both the FRET and LightSNiP assays, where detection occurs by melting curve analysis, offer an advantage over the competing TaqMan technology. Whereas unexpected genetic variants may be missed using a mutation-specific TaqMan assay, the information thus obtained can be useful to adjust the therapy in case of unexpected post-treatment toxicity. The combination of TaqMan and FRET assays helped us to achieve more accurate genotyping and a correct result for the patient. The added value of the DPYD FRET assay is the possibility of detecting, with the same amplification profile of the polymorphisms detailed in the guidelines, also the c.2194G>A (*6 rs1801160), cited in the recommendations as a variant to be investigated in case of severe toxicity. Regarding the UGT1A1 (TA)n promoter polymorphism (rs3064744), the distinctive and positive feature of the FRET assay is to allow clearly identifying all those potential variant alleles, including the (TA)5 and (TA)8 alleles, that are frequent in African Americans. Our clinical practice emphasizes the importance of not only rapid and easy-to-use assays, such as the new FRET ones, but also of accurate and comprehensive genotyping for good pharmacogenetic diagnostic activity.","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"739-746"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/53/pgpm-16-739.PMC10390719.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9924389","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}

引用次数: 0

No one left behind: review of precision medicine and cystic fibrosis—how the changing approach to cystic fibrosis treatment might lead to tailored therapies for all 没有人掉队:精准医学和囊性纤维化的回顾——囊性纤维化治疗方法的变化如何可能导致针对所有人的量身定制治疗

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI: 10.21037/prpm-22-12

Viktor Sekowski, Winnie M. Leung, G. Ferrara, Grace Y. Lam

引用次数: 0

Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation. 病例报告:先天性重症肌无力综合征，双侧声带麻痹由去新颖复合杂合麝香突变引起。

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI: 10.2147/PGPM.S398071

Lan Jiang, Sheng-Cai Wang, Jie Zhang, Fu-Gen Han, Jing Zhao, Ying Xu

{"title":"Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.","authors":"Lan Jiang, Sheng-Cai Wang, Jie Zhang, Fu-Gen Han, Jing Zhao, Ying Xu","doi":"10.2147/PGPM.S398071","DOIUrl":"https://doi.org/10.2147/PGPM.S398071","url":null,"abstract":"Background: We report the genetic etiology of a case of bilateral vocal cord paralysis in a female infant.Case description: The female infant developed dyspnea after birth, which improved with treatment, allowing her to be discharged from the local hospital. At 2 months of age, the child experienced a recurrence of dyspnea and was treated in a local hospital with interventions such as tracheal intubation and mechanical ventilation. However, as the child continued to suffer from dyspnea, she was transferred to the neonatal intensive care unit of the Children's Hospital affiliated to Zhengzhou University for further treatment. A second electronic nasopharyngoscopy examination revealed bilateral vocal cord paralysis. The child underwent a tracheostomy due to a failure to wean from mechanical ventilation; after surgery, the respirator was effectively removed, and oxygen delivery ceased. The child and her parents underwent genetic testing with next-generation sequencing technology, which revealed that the child had two heterozygous variants in the MUSK gene, namely the c.2287G>A heterozygous mutation (p.Ala763Thr) and the c.790C>T heterozygous mutation. In addition, Sanger sequencing was performed, which confirmed that these two mutations were, respectively, inherited from the mother and father.Conclusion: Congenital myasthenic syndrome caused by MUSK gene mutations can present clinically as bilateral vocal cord paralysis in neonates.","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"373-379"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9e/5b/pgpm-16-373.PMC10120818.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9758050","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}

引用次数: 0

A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms. 仅出现严重心脏症状的患者诊断Danon病的个案研究及文献综述

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI: 10.2147/PGPM.S392800

Yu-Qing Sun, Qiang Lv, Dong Chen, Yuwei Da, Xiao-Yan Zhao, Jian-Zeng Dong

{"title":"A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.","authors":"Yu-Qing Sun, Qiang Lv, Dong Chen, Yuwei Da, Xiao-Yan Zhao, Jian-Zeng Dong","doi":"10.2147/PGPM.S392800","DOIUrl":"https://doi.org/10.2147/PGPM.S392800","url":null,"abstract":"The clinical manifestations of Danon disease, which result from the primary deficiency of the lysosome-associated membrane protein 2 gene, include cardiomyopathy, skeletal myopathy, and different degrees of intellectual disability that vary greatly among patients. The present study reports on two cases of Danon disease in two patients who only presented cardiac symptoms. Cardiac symptoms usually occur in adolescence and during a patient's twenties, and most patients die from heart failure. However, the lab results from these cases suggested that other systems were involved, despite no other clinical symptoms. Significantly, the two patients had elevated serum cardiac troponin I, which often manifests in the acute cardiac phase, especially in severely affected patients with rapidly fatal outcomes. Danon disease is a multi-system involvement disease. Therefore, clinicians must be aware of its complexity when evaluating newly diagnosed patients due to its vastly different clinical course and prognosis and the importance of multidisciplinary management.","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"767-775"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a3/c3/pgpm-16-767.PMC10441658.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10413902","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}

引用次数: 0

GABRP is a Promising Prognostic Biomarker and Associated with Immune Cell Infiltration in Lung Squamous Cell Carcinoma. GABRP是一种有前景的预后生物标志物，与肺鳞状细胞癌免疫细胞浸润有关。

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI: 10.2147/PGPM.S403868

Jiding Fu, Jie Lin, Xiaohui Zeng, Guanger Li, Yier Wei, Lewu Xian

{"title":"GABRP is a Promising Prognostic Biomarker and Associated with Immune Cell Infiltration in Lung Squamous Cell Carcinoma.","authors":"Jiding Fu, Jie Lin, Xiaohui Zeng, Guanger Li, Yier Wei, Lewu Xian","doi":"10.2147/PGPM.S403868","DOIUrl":"https://doi.org/10.2147/PGPM.S403868","url":null,"abstract":"Background: GABRP has been reported to play an oncogenic role in various carcinomas. However, no report has been found for its involvement in lung squamous cell carcinoma (LUSC) development yet. We aimed to explore the expression and prognostic roles of GABRP and assessment of its association with tumor microenvironment in LUSC.Methods: The GABRP expression in LUSC was analyzed using TCGA, GEO, and HPA databases. The Kaplan-Meier, Cox regression analysis, and receiver operating characteristic (ROC) curve were applied to assess the prognostic and diagnostic values of GABRP in LUSC. We also performed ESTIMATE and ssGSEA to explore the association between GABRP expression and immune cell infiltrations. GABRP was highly expressed in LUSC patients, and up-regulation of GABRP was associated with shorter overall survival (OS). Cox regression analysis indicated that GABRP was an independent prognostic factor for LUSC patients. KEGG analysis revealed that GABRP may play an important role in starch and sucrose metabolism and nicotine addiction. Specifically, GABRP expression showed significant positive correlations with the infiltration levels of most types of immune cells, as well as immune checkpoint molecules expression.Conclusion: Up-regulation of GABRP in LUSC could be severed as a prognostic marker and a potential target for immunotherapy in LUSC.","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"357-371"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/15/3a/pgpm-16-357.PMC10115206.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742641","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}

引用次数: 1

Erratum: DNA Methylation Level of Transcription Factor Binding Site in the Promoter Region of Acyl-CoA Synthetase Family Member 3 (ACSF3) in Saudi Autistic Children [Corrigendum]. 勘误:沙特自闭症儿童酰基辅酶a合成酶家族成员3 (ACSF3)启动子区域转录因子结合位点DNA甲基化水平[勘误]。

IF 1.9 4区医学

Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI: 10.2147/PGPM.S405828

引用次数: 0