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Natural Language Processing for Radiation Oncology: Personalizing Treatment Pathways Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2024-02-13 Hui Lin, Lisa Ni, Christina Phuong, Julian C Hong
Abstract: Natural language processing (NLP), a technology that translates human language into machine-readable data, is revolutionizing numerous sectors, including cancer care. This review outlines the evolution of NLP and its potential for crafting personalized treatment pathways for cancer patients. Leveraging NLP’s ability to transform unstructured medical data into structured learnable formats
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Pharmacogenomic Analysis of CYP3A5*3 and Tacrolimus Trough Concentrations in Vietnamese Renal Transplant Outcomes Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2024-02-03 Thi Van Anh Nguyen, Ba Hai Le, Minh Thanh Nguyen, Viet Thang Le, Viet Tien Tran, Dinh Tuan Le, Duong Anh Minh Vu, Quy Kien Truong, Trong Hieu Le, Huong Thi Lien Nguyen
Purpose: CYP3A5 polymorphisms have been associated with variations in the pharmacokinetics of tacrolimus (Tac) in kidney transplant patients. Our study aims to quantify how the CYP3A5 genotype influences tacrolimus trough concentrations (C0) in a Vietnamese outpatient population by selecting an appropriate population pharmacokinetic model of Tac for our patients. Patients and Methods: The external
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Response to: “Challenges in DPYD Test Implementation in Patients Treated with Fluoropyirimidines, is DPYD Genotype Arriving on Time?” [Response to Letter] Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2024-01-30 Cristina Montrasio, Stefania Cheli, Emilio Clementi
Response to Letter in regards to Challenges in DPYD Test Implementation in Patients Treated with Fluoropyrimidines are DPYD Genotype Arriving on Time? [Letter]
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The Impact of Opioid Receptor Gene Polymorphism on Fentanyl and Alfentanil’s Analgesic Effects in the Pediatric Perioperative Period Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2024-01-30 Jelena Lilic, Vesna G Marjanovic, Ivana Budic, Nikola Stefanovic, Dragana Stokanovic, Goran T Marjanovic, Tatjana Jevtovic-Stoimenov, Mladjan Golubovic, Maja Zecevic, Radmila Velickovic-Radovanovic
Introduction: The polymorphism of the gene coding mu-opioid receptor (OPRM1) is one of the factors contributing to the variability in the response to opioid analgesics in children. The goal of this study is to investigate its role in association with postoperative acute pain in children of various ages. Methods: This prospective study analyzed 110 pediatric patients, after plastic or orthopedic surgery
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FBLN5 as One Presumably Prognostic Gene Potentially Modulating Tumor Immune Microenvironment for Renal Clear Cell Carcinoma in Children and Young Adults Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2024-01-19 Ming Zhang, Feng Chen, Shaoguang Feng, Xu Liu, Zhen Wang, Nan Shen, Lingjian Meng, Dongsheng Zhu, Zhitao Zhu
Objective: To investigate the role of FBLN5in renal clear cell carcinoma (KIRC), in particular on the tumor’s immune microenvironment, including children and young adults. Methods: FBLN5 expression in tumor and normal samples was explored using SangerBox, TIMER2.0, GEPIA, UALCAN, HPA databases. The Linkedomics database was used to obtain FBLN5 co-expressed genes in KIRC tissue. SangerBox was also used
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Maternally Inherited Essential Hypertension May Be Associated with the Mutations in Mitochondrial tRNAGlu Gene Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2024-01-09 Chun Wang, Xin Deng, Lei Li, Mei Li
Background: Mitochondrial DNA (mtDNA) mutations are associated with essential hypertension (EH), but the molecular mechanism remains largely unknown. Objective: The aim of this study is to explore the association between mtDNA mutations and EH. Methods: Two maternally inherited families with EH are underwent clinical, genetic and biochemical assessments. mtDNA mutations are screened by PCR-Sanger sequencing
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circPVT1 Inhibits the Proliferation and Aids in Prediction of the Prognosis of Bladder Cancer Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2024-01-05 Hongyi Zhou, Xueping Cui, Leilei Zhu, Zhuoqun Xu, Zhuo Wang, Jianfeng Shao
Background: Circular RNA PVT1 (circPVT1) is aberrantly expressed in several cancers, but its functional role and clinical relevance in bladder urothelial carcinoma (BLCA) remain unknown. This study aimed to identify the expression level of circPVT1 in BLCA and investigated its functional relevance with BLCA progression both in vitro and in vivo. Methods: GEPIA, UALCAN, and OncoLnc were referred to
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Identification of Novel Prognostic Biomarkers That are Associated with Immune Microenvironment Based on GABA-Related Molecular Subtypes in Gastric Cancer [Corrigendum] Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-29 Beibei Wang, Linlin Huang, Shanliang Ye, Zhongwen Zheng, Shanying Liao
Corrigendum for the article Identification of Novel Prognostic Biomarkers That are Associated with Immune Microenvironment Based on GABA-Related Molecular Subtypes in Gastric Cancer
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Challenges in DPYD Test Implementation in Patients Treated with Fluoropyrimidines are DPYD Genotype Arriving on Time? [Letter] Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-28 Marta López López-Cepero, Antonia Obrador de Hevia, Mónica Guillot Morales
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Heme Metabolism-Related Gene TENT5C is a Prognostic Marker and Investigating Its Immunological Role in Colon Cancer Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-23 Wei Han, Cheng Li, Yongheng Wang, Binliang Huo, Wenhan Li, Wen Shi
Background: There is a strong correlation between consuming high amounts of heme and an elevated risk of developing various types of cancer, including colorectal cancer. However, the role of heme metabolism-related genes (HRGs) in colorectal cancer remains unclear. Our study aimed to identify prognostic markers for colorectal cancer patients based on these genes. Methods: The heme metabolism score
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BICDL1 Predicts Poor Prognosis and is Correlated with Methylation and Immune Infiltration in Colorectal Cancer Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-22 Hongbiao Luo, Ji Luo, Ning Ding, Tao Zhang, Yongheng He
Background: Bicaudal-D (BICD) Family Like Cargo Adaptor 1 (BICDL1) is an essential component of the molecular mechanism during neuronal development. However, BICDL1 has not been reported in cancer. Using bioinformatics analysis, we systematically evaluated the potential role of BICDL1 in CRC. Methods: Colorectal cancer (CRC) and normal tissue samples were retrieved from the Gene Expression Omnibus
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Olanzapine Pharmacokinetics: A Clinical Review of Current Insights and Remaining Questions Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-21 Priyanka Kolli, Grace Kelley, Marianela Rosales, Justin Faden, Ryan Serdenes
Abstract: Olanzapine is one of the most widely used antipsychotics since its initial approval by the US Food and Drug Administration in 1996 and has undergone extensive pharmacokinetic study. Despite being utilized in clinical psychiatry for decades, there remain questions regarding the variety of available formulations, the utility of therapeutic drug monitoring, altered kinetic properties in special
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A Case of Floating-Harbor Syndrome with “Growth and Language Development Delay” as Its Clinical Manifestation Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-15 Yi-Can Yang, Qiong Tang, Li-Juan Yan, Shi-Bin Zhang, Xiao-Min Ye, Dai Gong, Li Zou, Xiang-Lan Wen
Background: Floating-Harbor syndrome (FHS) is a rare autosomal dominant inherited disease characterized primarily by short stature, delayed language development, and typical facial features. There are currently few case reports, diagnoses and treatments for these syndromes at home and abroad. Case Description: This study reports a case of a boy with “growth and language development delay” as the predominant
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Circ_0000140 Alters miR-527/SLC7A11-Mediated Ferroptosis to Influence Oral Squamous Cell Carcinoma Cell Resistance to DDP Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-13 Yu Ma, Jinbo Gao, Hongning Guo
Background: While there is prior evidence for the ability of circular RNAs (circRNAs) to shape the cisplatin (DDP) resistance of cancers in human patients, there has been relatively little research to date focused on the interplay between circRNAs and DDP resistance in the context of OSCC progression to date. In the present analysis, the functional role that circ_0000140 plays as a mediator of chemoresistance
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A Review on Probable Causes of Cardiotoxicity Caused by Common Cancer Drugs and the Role of Traditional Chinese Medicine in Prevention and Treatment Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-06 Miao Zhou, Wenyan Wang, Jiahao Weng, Zhikun Lai
Abstract: Cancer is a widespread disease in our nation, characterized by a high occurrence rate. The use of tumor medications has been linked to an increased chance of cardiovascular complications, including a notable occurrence of heart toxicity. This has caused significant concern among healthcare professionals. This article provides a comprehensive compilation of drugs recognized for their potential
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Novel Autophagy-Related Blood Biomarkers Associated with Immune Cell Infiltration in Ankylosing Spondylitis Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-05 Hanbing Song, Hongpeng Liu, XiaoDong Li, Bing Lv, Zonghan Tang, Qipeng Chen, Danqi Zhang, Fei Wang
Background: This study aims to identify new therapeutic targets and explore the molecular mechanism of ankylosing spondylitis (AS), a rheumatic immune disease that mainly affects the sacroiliac and spinal joints. Despite extensive research, the exact cause of AS is still unknown. The research team utilized a bioinformatics approach to achieve their objectives. Methods: The GSE73754 dataset was downloaded
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Identification of P3H1 as a Predictive Prognostic Biomarker for Bladder Urothelial Carcinoma Based on the Cancer Genome Atlas Database Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-12-01 Yuanfeng Zhang, Yang Chen, Zhiming Chen, Xinye Zhou, Shaochuan Chen, Kaijian Lan, Zhiping Wang, Yonghai Zhang
Purpose: The extracellular matrix in the tumor microenvironment are closely related to the development of tumors. This study’s primary aim is to study the association between prolyl 3-hydroxylase 1 (P3H1) which mainly expresses collagen in extracellular matrix and the progression and prognosis of bladder cancer (BC). Methods: The clinical and transcriptome data were acquired from the cancer genome
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Implication of KDR Polymorphism rs2071559 on Therapeutic Outcomes and Safety of Postoperative Patients with Gastric Cancer Who Received S-1-Based Adjuvant Chemotherapy: A Real-World Exploratory Study Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-11-28 Lei Meng, Jun Cao, Li Kang, Gang Xu, Da-Wei Yuan, Kang Li, Kun Zhu
Objective: Regimens of S-1-based adjuvant chemotherapy are of great significance in attenuating recurrence risk in postoperative patients with gastric cancer (GC). Kinase insert-domain receptor (KDR) gene plays an essential role in tumor growth and metastasis. This study aimed to investigate the implication of KDR genotyping on the therapeutic outcomes of patients with gastric cancer (GC) who received
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Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-11-11 Rui Huang, Yi-Ting Zhang, Yu Lin, Ru-Li Pang, Zhi Yang, Wei-Hua Zhao
Objective: The purpose of our study was to investigate the clinical characteristics, molecular biological characteristics and prognosis of acute myeloid leukemia (AML) patients with protein tyrosine phosphatase non-receptor type 11 (PTPN11) gene mutation. Methods: The clinical data of 30 newly diagnosed adult AML patients with PTPN11 gene mutation were analyzed retrospectively. Kaplan-Meier and Cox
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PLP2 Could Be a Prognostic Biomarker and Potential Treatment Target in Glioblastoma Multiforme Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-11-09 Hao Qiao, Huanting Li
Objective: This study aimed to discern the association between PLP2 expression, its biological significance, and the extent of immune infiltration in human GBM. Methods: Utilizing the GEPIA2 and TCGA databases, we contrasted the expression levels of PLP2 in GBM against normal tissue. We utilized GEPIA2 and LinkedOmics for survival analysis, recognized genes co-expressed with PLP2 via cBioPortal and
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Identification of a Prognostic Gene Signature Based on Lipid Metabolism-Related Genes in Esophageal Squamous Cell Carcinoma Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-11-04 Guo-Yi Shen, Peng-Jie Yang, Wen-Shan Zhang, Jun-Biao Chen, Qin-Yong Tian, Yi Zhang, Bater Han
Background: Dysregulation of lipid metabolism is common in cancer. However, the molecular mechanism underlying lipid metabolism in esophageal squamous cell carcinoma (ESCC) and its effect on patient prognosis are not well understood. The objective of our study was to construct a lipid metabolism-related prognostic model to improve prognosis prediction in ESCC. Methods: We downloaded the mRNA expression
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Personalized Approaches to Antiplatelet Treatment for Cardiovascular Diseases: An Umbrella Review Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-11-03 Angelo Oliva, Davide Cao, Alessandro Spirito, Johny Nicolas, Brunna Pileggi, Karim Kamaleldin, Birgit Vogel, Roxana Mehran
Abstract: Antiplatelet therapy is the cornerstone of antithrombotic prevention in patients with established atherosclerosis, since it has been proven to reduce coronary, cerebrovascular, and peripheral thrombotic events. However, the protective effect of antiplatelet agents is counterbalanced by an increase of bleeding events that impacts on patients’ mortality and morbidity. Over the last years, great
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Hepatic Artery Infusion Chemotherapy Sequential Hepatic Artery Embolization Combined with Operation in the Treatment of Recurrent Massive Hepatocellular Carcinoma Achieved Pathological Complete Response: A Case Report Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-11-01 Junjie Chen, Xiwen Liao, Yining Wu, Shenjian Ou, Wei Qin, Chengkun Yang, Yufeng Tan, Quan Lao, Minhao Peng, Tao Peng, Xinping Ye
Abstract: Hepatocellular carcinoma (HCC) recurrence, which encompasses both true recurrence resulting from cancer spread and de novo tumors developing within the same cancer-prone liver, presents a complication in approximately 70% of cases within a 5-year timeframe. The efficacy of neoadjuvant therapy for recurrence after hepatectomy for hepatocellular carcinoma is still unclear. We report a case
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rs217727 of lncRNA H19 is Associated with Cervical Cancer Risk in the Chinese Han Population Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-10-30 Jie Dai, Shao Zhang, Yuhan Shi, Jinmei Xu, Weipeng Liu, Jia Yang, Li Shi, Zhiling Yan, Chuanyin Li
Background: Long noncoding RNAs (LncRNAs) have been revealed to involve in cervical cancer (CC) developing. The current study was designed to explore the association of SNPs (rs217727, rs2366152, rs1859168, rs10505477) located in the lncRNA H19, HOTAIR, HOTTIP and CASC8 genes with the risk of CC in a Chinese Han population. Methods: Four SNPs were selected and genotyped in 1426 participants (274 CIN
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Association Between CTSK Gene Polymorphisms and Response to Alendronate Treatment in Postmenopausal Chinese Women with Low Bone Mineral Density Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-10-28 Hu Yuan, Caihong Wang, Li Liu, Chun Wang, Zhenlin Zhang, Shen Qu
Purpose: The aim of this study was to explore the association between CTSK polymorphisms and the response to alendronate treatment in postmenopausal Chinese women with low bone mineral density. Patients and Methods: In this study, 460 postmenopausal women from Shanghai were included. All of them were treated with weekly oral alendronate 70 mg, daily calcium 600 mg and vitamin D 125 IU for a year. Four
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Microarray Expression Profile and Bioinformatic Analysis of Circular RNA in Human Arteriosclerosis Obliterans Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-10-24 Yu Zhou, Huoying Cai, Lin Huang, Mingshan Wang, Ruiming Liu, Siwen Wang, Yuansen Qin, Chen Yao, Zuojun Hu
Background: Arteriosclerosis obliterans (ASO) is the leading cause of nontraumatic lower-extremity amputations. Multiple researches have suggested that circular RNAs (circRNAs) played vital regulatory functions in cancer and cardiovascular disease. Nevertheless, the underlying effect and pathological mechanism of circRNAs in the formation and progression of ASO are still indistinct. Methods and Results:
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A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter] Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-10-25 Abdul Hadi Furqoni, Indah Fajarwati, Anna Lystia Poetranto
Letter for the article A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant
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Influence of CYP450 Enzymes and ABCB1 Polymorphisms on Clopidogrel Response in Moroccan Patients with Acute Coronary Syndromes Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-10-02 Ismail Mouhrach, Laila Bouguenouch, Adil Kamal, Abbassi Meriame, Nada El Khorb, Mohammed El Azami El Idrissi, Hafid Akoudad, Hicham Bekkari
Introduction: Clopidogrel is an antiplatelet prodrug primarily prescribed to prevent or treat acute coronary syndrome (ACS) or acute ischemic stroke (IS), polymorphisms of genes encoding cytochrome P-450 (CYP) and P-glycoprotein transporter, could affect the efficiency of clopidogrel absorption and biotransformation, especially during the first critical hours following its administration. Methods:
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Homocysteine Reduction for Stroke Prevention: Regarding the Recent AHA/ASA 2021 Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-10-03 Craig Brown, Jianhua Wang, Hong Jiang, Merrill F Elias
Abstract: Reduction of secondary ischemic stroke risk following an initial stroke is an important goal. The 2021 Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack assembles opportunities for up to 80% secondary stroke reduction. Homocysteine reduction was not included in the recommendations. The reduction of homocysteine with low doses of folic acid has been shown to reduce
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Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-09-20 Deepa Selvi Rani, Apoorva Kasala, Perundurai S Dhandapany, Uthiralingam Muthusami, Sreejith Kunnoth, Andiappan Rathinavel, Dharma Rakshak Ayapati, Kumarasamy Thangaraj
Background: Mutations in Myosin Binding Protein C (MYBPC3) are one of the most frequent causes of cardiomyopathies in the world, but not much data are available in India. Methods: We carried out targeted direct sequencing of MYBPC3 in 115 hypertrophic (HCM) and 127 dilated (DCM) cardiomyopathies against 197 ethnically matched healthy controls from India. Results: We detected 34 single nucleotide variations
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Genome-Wide Identification of lncRNA and mRNA for Diagnosing Type 2 Diabetes in Saudi Arabia Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-09-15 Sarah Albogami
Purpose: According to the World Health Organization, Saudi Arabia ranks seventh worldwide in the number of patients with diabetes mellitus. To our knowledge, no research has addressed the potential of noncoding RNA as a diagnostic and/or management biomarker for patients with type 2 diabetes mellitus (T2DM) living in high-altitude areas. This study aimed to identify molecular biomarkers influencing
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Clinical Significance of NAT2 Genetic Variations in Type II Diabetes Mellitus and Lipid Regulation Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-09-13 Yazun Jarrar, Sara Abudahab, Ghasaq Abdul-Wahab, Dana Zaiter, Abdalla Madani, Sara J Abaalkhail, Dina Abulebdah, Hussam Alhawari, Rami Musleh, Su-Jun Lee
Background: N-acetyltransferase 2 (NAT2) enzyme is a Phase II drug-metabolizing enzyme that metabolizes different compounds. Genetic variations in NAT2 can influence the enzyme’s activity and potentially lead to the development of certain diseases. Aim: This study aimed to investigate the association of NAT2 variants with the risk of Type II diabetes mellitus (T2DM) and the lipid profile among Jordanian
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Chromosomal Copy Number Variation Predicts EGFR-TKI Response and Prognosis for Patients with Non-Small Cell Lung Cancer Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-09-13 Haiyan He, Hang Ma, Zhuo Chen, Jingliang Chen, Dandan Wu, Xuedong Lv, Jie Zhu
Purpose: Chromosomal abnormalities represent genomic signatures linked to cancer prognosis and responses to chemotherapy, immunotherapy, and drug resistance. This study aimed to investigate the impact of chromosome copy number variants (CNVs) on the efficacy of tyrosine kinase inhibitors (TKIs) in EGFR-mutated non-small cell lung cancer (NSCLC) patients, as well as its prognostic implications for progression-free
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Genetic Polymorphism of NQO1 Influences Susceptibility to Coronary Heart Disease in a Chinese Population: A Cross-Sectional Study and Meta-Anaylsis Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-09-11 Ying-Yan Zhou, Jing-Hua Sun, Li Wang, Yan-Yan Cheng
Objective: The present study is to explore the association between NQO1 gene polymorphism and coronary heart disease (CHD) risk. Methods: This research were selected 80 CHD patients as the observation group and 130 healthy people who participated in normal physical examination during the same period as the control group. NQO1 gene polymorphism was detected by polymerase chain reaction-restriction fragment
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A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-09-08 Qiong Tang, Dai Gong, Xiao-Min Ye, Jun-Ru Xu, Yi-Can Yang, Li-Juan Yan, Li Zou, Xiang-Lan Wen
Abstract: Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been documented in the literature. In this report, we discuss a patient diagnosed with CFCS without
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Hsa_circ_0003489 Drives PTX Resistance of Human NSCLC Cells Through Modulating miR-98-5p/IGF2 Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-09-04 Shaofeng Xia, Chenliang Wang
Background: Circular RNAs (circRNAs) demonstrated critical roles within developing tumors and treatment resistance in an increasing body of research. The aim was to look into the functions and processes of hsa_circ_0003489 in the non-small cell lung cancer (NSCLC) paclitaxel (PTX) resistance. Methods: NSCLC cell-based cultures including A549 and H460 were employed for such an investigation. hsa_circ_0003489
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Pyroptosis and Inflammasome-Related Genes-NLRP3, NLRC4 and NLRP7 Polymorphisms Were Associated with Risk of Lung Cancer Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-08-25 Xin Jing, Yuhui Yun, Xiang Ji, Ende Yang, Pei Li
Background: Cancer development and tumor immune microenvironment remodeling are closely linked to pyroptosis and inflammasome activation. However, little information is available in single nucleotide polymorphisms (SNPs) in pyroptosis and inflammasome-related genes in patients with lung cancer. This study aims to evaluate the associations between pyroptosis-related gene (NLRP3, NLRC4, and NLRP7) polymorphisms
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Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-08-23 Xiao Han, Qianjuan Zhang, Chengcheng Wang, Bingjuan Han
Purpose: Mowat-Wilson syndrome (MWS) is an autosomal dominant disease caused by a pathogenic variant of the ZEB2 gene. The main clinical manifestations include special facial features, Hirschsprung disease (HSCR), global developmental delay and other congenital malformations. Here, we summarize the clinical characteristics and genetic mutation analysis of three Chinese patients with MWS. Patients and
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A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-08-17 Yu-Qing Sun, Qiang Lv, Dong Chen, Yuwei Da, Xiao-Yan Zhao, Jian-Zeng Dong
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
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Identification of Two Novel Variants of the DMD Gene in Chinese Families with Duchenne Muscular Dystrophy Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-08-17 Jiangfen Wu, Lingyan Ren, Xinyi Huang, Li Hu, Liangliang Zhang, Dan Xie, Zhimin Li, Naijian Han, Shengwen Huang
Background: Duchenne muscular dystrophy (DMD), an X-linked recessive neuromuscular disorder, is caused by pathogenic variants in the DMD gene encoding a large structural protein in muscle cells. Methods: Two probands, a 6-year old boy and a 1-month old infant, respectively, were clinically diagnosed with DMD based on elevated levels of creatine kinase and creatine kinase isoenzyme. CNVplex and whole
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PSMC2 is a Novel Prognostic Biomarker and Predicts Immunotherapeutic Responses: From Pancreatic Cancer to Pan-Cancer Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-08-09 Wei Huang, Zhengtao Qian, Yuxin Shi, Zheming Zhang, Rui Hou, Jie Mei, Junying Xu, Junli Ding
Background: Proteasome 26S subunit ATPase 2 (PSMC2) is a part of the 19S regulatory complex, which catalyzes the unfolding and transport of substrates into the 20S proteasome. Our previous research demonstrated that PSMC2 participates in the tumorigenesis and progression of pancreatic cancer (PC). However, no systematic analysis has been conducted to conclude its expression pattern and correlation
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Pharmacogenetic Practice of Anticancer Drugs: Multiple Approaches for an Accurate and Comprehensive Genotyping Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-07-27 Cristina Montrasio, Stefania Cheli, Emilio Clementi
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
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Pharmacogenomics in the Management of Pulmonary Arterial Hypertension: Current Perspectives Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-07-11 James C Coons, Philip E Empey
Abstract: Pulmonary arterial hypertension (PAH) is a rare disease with heterogeneous causes that can lead to right ventricular (RV) failure and death if left untreated. There are currently 10 medications representative of five unique pharmacologic classes that are approved for treatment. These have led to significant improvements in overall clinical outcome. However, substantial variability in dosing
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Association Between HTRA1, GAS6 and IFNGR2 Gene Polymorphisms and Stroke Susceptibility in the Chinese Han Population Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-07-07 Fan Zhang, Hao Peng, Chuanyi Fu, Yidong Deng, Mao Zhang, Wenan Li, Jian Zhong, Qing Zhou, Li Huang, Shuli Xiao, Jiannong Zhao
Background: Stroke has a high disability rate, and 30% of stroke cases have an unknown cause. Accurate diagnosis and treatment of stroke requires consideration of several rare heritable and non-heritable factors. Objective: This study aimed to evaluate the impacts of three genetic polymorphisms (rs369149111 in HTRA1, rs1803628 in GAS6 and rs9808753 in IFNGR2) on stroke susceptibility among the Chinese
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Impact of TREM1 Variants on the Risk and Prognosis of Glioma in the Chinese Han Population Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-07-03 Mingjun Hu, Jie Wei, Jie Hao, Tianbo Jin, Bin Li
Background: Glioma is the main pathological subtype of brain tumors with high mortality. Objective: This study aimed to elucidate the correlation between TREM1 variants and glioma risk in the Chinese Han population. Methods: Genotyping of six variants of TREM1 was completed by Agena MassARRAY platform in 1061 subjects (503 controls and 558 glioma patients). The relationship between TREM1 polymorphisms
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Genotyping of Patients with Adverse Drug Reaction or Therapy Failure: Database Analysis of a Pharmacogenetics Case Series Study Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-07-03 Anna Bollinger, Céline K Stäuble, Chiara Jeiziner, Florine M Wiss, Kurt E Hersberger, Markus L Lampert, Henriette E Meyer zu Schwabedissen, Samuel S Allemann
Purpose: Pharmacogenetics (PGx) is an emerging aspect of personalized medicine with the potential to increase efficacy and safety of pharmacotherapy. However, PGx testing is still not routinely integrated into clinical practice. We conducted an observational case series study where PGx information from a commercially available panel test covering 30 genes was integrated into medication reviews. The
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Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns? Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-07-01 Danya F Vears, Julian Savulescu, John Christodoulou, Meaghan Wall, Ainsley J Newson
Abstract: The introduction of genomic sequencing technologies into routine newborn screening programs in some form is not only inevitable but also already occurring in some settings. The question is therefore not “if” but “when and how” genomic newborn screening (GNBS) should be implemented. In April 2022, the Centre for Ethics of Paediatric Genomics held a one-day symposium exploring ethical issues
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Identification of Novel Prognostic Biomarkers That are Associated with Immune Microenvironment Based on GABA-Related Molecular Subtypes in Gastric Cancer Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-28 Beibei Wang, Linlin Huang, Shanliang Ye, Zhongwen Zheng, Shanying Liao
Background: Gamma-aminobutyric acid (GABA) plays an important role in tumorigenesis and progression. Despite this, the role of Reactome GABA receptor activation (RGRA) on gastric cancer (GC) remains unclear. This study was intended to screen RGRA-related genes in GC and investigate their prognostic value. Methods: GSVA algorithm was used to assess the score of RGRA. GC patients were divided into two
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A Pharmacogenetics-Based Approach to Managing Gastroesophageal Reflux Disease: Current Perspectives and Future Steps Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-23 Eda Eken, David S Estores, Emily J Cicali, Kristin K Wiisanen, Julie A Johnson
Abstract: Proton pump inhibitors (PPIs) are commonly used medications to treat acid-related conditions, including gastro-esophageal reflux disease (GERD). Gastroenterology guidelines mention the importance of CYP2C19 in PPI metabolism and the influence of CYP2C19 genetic variations on variable responses to PPIs, but do not currently recommend the genotyping of CYP2C19 prior to prescribing PPIs. There
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Integrated Bioinformatics Analysis and Experimental Verification of Immune Cell Infiltration and the Related Core Genes in Ulcerative Colitis Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-23 Danya Zhao, Danping Qin, Liming Yin, Qiang Yang
Background: Ulcerative colitis is a recurrent autoimmune disease. At present, the pathogenesis of UC is not completely clear. Hence, the etiology and underlying molecular mechanism need to be further investigated. Methods: Three sets of microarray datasets were included from the Gene Expression Omnibus database. The differentially expressed genes in two sets of datasets were analyzed using the R software
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The Association of Methylation Level in the CYP39A1 Gene with High Altitude Pulmonary Edema in the Chinese Population Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-21 Pingyi Wang, Hongyan Lu, Hao Rong, Yuhe Wang, Li Wang, Xue He, Dongya Yuan, Yongjun He, Tianbo Jin
Background: High altitude pulmonary edema (HAPE) is still the most common fatal disease at high altitudes. DNA methylation proceeds with an important role in HAPE progression. This study was designed to investigate the association between CYP39A1 methylation and HAPE. Methods: Peripheral blood samples were enrolled from 106 participants (53 HAPE patients and 53 healthy subjects) to study the association
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One Rare Warfarin Resistance Case and Possible Mechanism Exploration Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-20 Li Zhao, Zhenguo Zhai, Pengmei Li
Abstract: One 59-year-old female patient with deep venous thrombosis (DVT) and pulmonary embolism (PE) was treated with 6 mg warfarin once daily as an anticoagulant. Before taking warfarin, her international normalized ratio (INR) was 0.98. Two days after warfarin treatment, her INR did not change from baseline. Due to the high severity of the PE, the patient needed to reach her target range (INR goal
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Genetic Variants of CYP4F2 Associated with Ischemic Stroke Susceptibility in the Han Population from Southern China Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-15 Kang Huang, Tianyi Ma, Qiang Li, Yilei Zhou, Ting Qin, Zanrui Zhong, Shilin Tang, Wei Zhang, Jianghua Zhong, Shijuan Lu
Background: The pathophysiological mechanism of ischemic stroke is complex. Traditional risk factors cannot fully or only partially explain the occurrence and development of IS. Genetic factors are getting more and more attention. Our study aimed to explore the association between CYP4F2 gene polymorphism and susceptibility to IS. Methods: A total of 1322 volunteers were enrolled to perform an association
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Exploration into Plasma Hsa_circ_0052184 as a New Biomarker of Colorectal Cancer Prognosis Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-12 Enqi Zheng, Deshuang Xiao
Background: Circular RNAs (circRNAs) are strong modulators of tumor pathology. Herein, our goal was to examine the plasma hsa_circ_0052184 content among colorectal cancer (CRC) patients, and assess its association with patient clinicopathological profile and diagnostic values. Methods: Overall, we collected 228 presurgical CRC and 146 normal plasma samples from The First People’s Hospital of Wenling
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Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-05 Xiaoxia Wang, Haining Fang
Objective: To investigate the clinical and gene mutation characteristics of fatty acid oxidative metabolic diseases found in neonatal screening. Methods: A retrospective analysis was performed on 29,948 neonatal blood tandem mass spectrometry screening samples from January 2018 to December 2021 in our neonatal screening centre. For screening positive, recall review is still suspected of fatty acid
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Genetic Influence of Fracture Nonunion (FNU): A Systematic Review Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-05 Mir Sadat-Ali, Hussain K Al-Omar, Khalid W AlTabash, Ammar K AlOmran, Dakheel A AlDakheel, Hasan N AlSayed
Purpose: Nonunion of fractures occurs in about 15% of all fractures causing repeated surgical interference and prolonged morbidity. We performed this systematic review to assess genes and polymorphisms influencing fractures’ nonunion (FNU). Methods: We searched between 2000 and July 2022 in PubMed, EMBASE, the Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews
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Leucyl and Cystinyl Aminopeptidase as a Prognostic-Related Biomarker in OV Correlating with Immune Infiltrates Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-02 Qian Ma, Lei Chang, Wenwen Wang, Lingyi Che, Xiaoqin Song, Gailing Li, Ying Zhang, Yibing Chen, Zhuoyu Gu, Xin Ge
Background: It was indicated that tumor intrinsic heterogeneity and the tumor microenvironment (TME) of ovarian cancer (OV) influence immunotherapy efficacy and patient outcomes. Leucyl and cystinyl aminopeptidase (LNPEP) encodes a zinc-dependent aminopeptidase, which has been proved to participant in the vesicle-mediated transport and class I MHC mediated antigen processing and presentation. However
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Serum Osteopontin, KL-6, and Syndecan-4 as Potential Biomarkers in the Diagnosis of Coal Workers’ Pneumoconiosis: A Case–Control Study Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-01 Zhifei Hou, Xinran Zhang, Yong Gao, Jing Geng, Yu Jiang, Huaping Dai, Chen Wang
Background: Coal worker’s pneumoconiosis (CWP) is a chronic occupational disease mainly caused by coal dust inhalation in miners. This study aimed to investigate the clinical value of Osteopontin (OPN), KL-6, Syndecan-4 and Gremlin-1 as serum biomarkers in CWP. Patients and Methods: We integrated reported lung tissues transcriptome data in pneumoconiosis patients with silica-exposed alveolar macrophage
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Exploring the Correlation Between GPR176, a Potential Target Gene of Gastric Cancer, and Immune Cell Infiltration Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-06-01 Xianhua Gu, Honghong Shen, Zheng Xiang, Xinwei Li, Yue Zhang, Rong Zhang, Fang Su, Zishu Wang
Introduction: GPR176, an orphan G protein-coupled receptor (GPCR), is essential for the progression of gastrointestinal cancers. However, it is still unclear how GPR176 affects tumor immunity and patient prognosis in gastric cancer (GC). Methods: The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) were searched in this investigation to assess the expression patterns of GPR176 in GC tissues
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Mental Health Prescribers’ Perceptions on the Use of Pharmacogenetic Testing in the Management of Depression in the Middle East and North Africa Region Pharmacogenomics Pers. Med. (IF 2.606) Pub Date : 2023-05-30 Shimaa Aboelbaha, Monica Zolezzi, Oraib Abdallah, Yassin Eltorki
Objective: A wide variety of commercial pharmacogenetic (PGx) tools are available worldwide to guide treatment selection for depression based on individuals’ genetic profiles. However, the use of genetic testing to inform psychiatric care has faced challenges due to the limited training and education for mental health clinicians. The aim of this study was to explore the knowledge, level of engagement