Expert Review of Molecular Diagnostics最新文献

Research advancement in fluid biomarkers for Parkinson's disease. 帕金森病液体生物标志物的研究进展。

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-09-11 DOI: 10.1080/14737159.2024.2403073

Lorenzo Gaetani,Federico Paolini Paoletti,Alessandro Mechelli,Giovanni Bellomo,Lucilla Parnetti

{"title":"Research advancement in fluid biomarkers for Parkinson's disease.","authors":"Lorenzo Gaetani,Federico Paolini Paoletti,Alessandro Mechelli,Giovanni Bellomo,Lucilla Parnetti","doi":"10.1080/14737159.2024.2403073","DOIUrl":"https://doi.org/10.1080/14737159.2024.2403073","url":null,"abstract":"INTRODUCTIONDiagnostic criteria for Parkinson's disease (PD) rely on clinical, mainly motor, features, implying that pre-motor phase cannot be accurately identified. To achieve a reliable early diagnosis, similar to what has been done for Alzheimer's disease (AD), a shift from clinical to biological identification of PD is being pursued. This shift has taken great advantage from the research on cerebrospinal fluid (CSF) biomarkers as they mirror the ongoing molecular pathogenic mechanisms taking place in PD, thus intercepting the disease timely with respect to clinical manifestations.AREAS COVEREDCSF α-synuclein seed amplification assay (αS-SAA) has emerged as the most promising biomarker of α-synucleinopathy. CSF biomarkers reflecting AD-pathology and axonal damage (neurofilament light chain) and a novel marker of dopaminergic dysfunction (DOPA decarboxylase) add valuable diagnostic and prognostic information in the neurochemical characterization of PD.EXPERT OPINIONA biological classification system of PD, encompassing pathophysiological and staging biomarkers, might ensure both early identification and prognostic characterization of the patient. This approach could allow for the best setting for disease-modifying treatments which are currently under investigation.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142207050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How can we improve the successful identification of patients suitable for CAR-T cell therapy? 如何才能更好地成功识别适合 CAR-T 细胞疗法的患者？

IF 5.1 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-09-11 DOI: 10.1080/14737159.2024.2399152

Youqin Feng, Longyuan Wu, Tianning Gu, Yongxian Hu, He Huang

引用次数: 0

Recent developments in molecular targeted therapies for hepatocellular carcinoma in the genomic era. 基因组时代肝细胞癌分子靶向疗法的最新发展。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-28 DOI: 10.1080/14737159.2024.2392278

Ugo Testa

{"title":"Recent developments in molecular targeted therapies for hepatocellular carcinoma in the genomic era.","authors":"Ugo Testa","doi":"10.1080/14737159.2024.2392278","DOIUrl":"https://doi.org/10.1080/14737159.2024.2392278","url":null,"abstract":"Introduction: Primary liver cancer is a major health problem being the sixth most frequent cancer in the world and the third cause of cancer-related death in the world. The most common histological type of liver cancer is hepatocellular carcinoma (HCC, 75-80%).Areas covered: Based on primary literature, this review provides an updated analysis of studies of genetic characterization of HCC at the level of gene mutation profiling, copy number alterations, and gene expression, with the definition of molecular subgroups and the identification of some molecular biomarkers and therapeutic targets. Recent therapeutic developments are also highlighted.Expert opinion: Deepening the understanding of the molecular complexity of HCC is progressively paving the way for the development of more personalized treatment approaches. Two important strategies involve the definition and validation of molecularly defined therapeutic targets in a subset of HCC patients and the identification of suitable biomarkers for approved systematic therapies (multikinase inhibitors and immunotherapies). The extensive molecular characterization of patients at the genomic and transcriptomic levels and the inclusion of detailed and relevant translational studies in clinical trials will represent a fundamental tool for improving the benefit of systemic therapies in HCC.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142079754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review. 在遗传性听力障碍的诊断和管理中应用新一代测序技术：综合综述。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-28 DOI: 10.1080/14737159.2024.2396866

Cheng-Yu Tsai, Jacob Shu-Jui Hsu, Pei-Lung Chen, Chen-Chi Wu

{"title":"Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.","authors":"Cheng-Yu Tsai, Jacob Shu-Jui Hsu, Pei-Lung Chen, Chen-Chi Wu","doi":"10.1080/14737159.2024.2396866","DOIUrl":"https://doi.org/10.1080/14737159.2024.2396866","url":null,"abstract":"Introduction: Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS) offers high-throughput screening and high-sensitivity detection of genetic etiologies of SNHI, enabling clinicians to make informed medical decisions, provide tailored treatments, and improve prognostic outcomes.Areas covered: This review covers the diverse etiologies of HHI and the utility of different NGS modalities (targeted sequencing and whole exome/genome sequencing), and includes HHI-related studies on newborn screening, genetic counseling, prognostic prediction, and personalized treatment. Challenges such as the trade-off between cost and diagnostic yield, detection of structural variants, and exploration of the non-coding genome are also highlighted.Expert opinion: In the current landscape of NGS-based diagnostics for HHI, there are both challenges (e.g. detection of structural variants and non-coding genome variants) and opportunities (e.g. the emergence of medical artificial intelligence tools). The authors advocate the use of technological advances such as long-read sequencing for structural variant detection, multi-omics analysis for non-coding variant exploration, and medical artificial intelligence for pathogenicity assessment and outcome prediction. By integrating these innovations into clinical practice, precision medicine in the diagnosis and management of HHI can be further improved.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142079753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A systematic review and meta-analysis combined with bioinformatic analysis on the predictive value of E-cadherin in patients with renal cell carcinoma. 关于E-cadherin对肾细胞癌患者预测价值的系统综述和荟萃分析以及生物信息学分析。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-26 DOI: 10.1080/14737159.2024.2392641

Zikuan Zhang, Bo Xue, Yongquan Chen, Yuan Shao, Dongwen Wang

{"title":"A systematic review and meta-analysis combined with bioinformatic analysis on the predictive value of E-cadherin in patients with renal cell carcinoma.","authors":"Zikuan Zhang, Bo Xue, Yongquan Chen, Yuan Shao, Dongwen Wang","doi":"10.1080/14737159.2024.2392641","DOIUrl":"https://doi.org/10.1080/14737159.2024.2392641","url":null,"abstract":"Objectives: Renal cell carcinoma (RCC) is the most common cancer of the kidney. This study aims to evaluate the potential predictive value of E-cadherin, a marker of the epithelial mesenchymal transit (EMT) process that has been associated with tumor metastasis.Methods: We searched PubMed, Embase, and Cochrane Library to identify prospective studies. Hazard ratios (HRs), odds ratios (ORs), and 95% confidence intervals (CIs) were summarized to validate the relationship between E-cadherin and survival and clinical characteristics. The quality of the included studies was assessed using the NOS table. Then, we analyzed genetic data and clinical characteristics from The Cancer Genome Atlas Program (TCGA) database using R language with the dplyr package for validation.Results: Including 21 articles. The analysis revealed a strong link between high E-cadherin expression and favorable prognosis (for OS, HR = 0.35, 95% CI: 0.19-0.62; for PFS, HR = 0.19, 95% CI: 0.03-0.53; for DSS, HR = 0.25, 95% CI: 0.08-0.76; for RFS, HR = 0.71, 95% CI: 0.44-1.16; for DFS, HR = 0.28, 95% CI: 0.13-0.61; for T stage, OR = 0.21, 95% CI: 0.11-0.41; for N stage, OR = 0.07, 95%CI: 0.02-0.25; for M stage, OR = 0.12, 95% CI: 0.02-0.60; for clinical stage, OR = 0.29, 95% CI: 0.18-0.47; for nuclear grade, OR = 0.23, 95% CI: 0.13-0.41; for tumor size, OR = 0.49, 95% CI: 0.26-0.92). The findings were supported by bioinformatic analysis which used TCGA RCC patient's cohort (P < 0.01).Conclusion: Based on the current data, E-cadherin may predict a better prognosis in RCC patients.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142072351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Towards improved point-of-care (POC) testing for patients with suspected sepsis: POC tests for host biomarkers and possible microbial pathogens. 改进对疑似败血症患者的护理点 (POC) 检测：宿主生物标志物和可能微生物病原体的 POC 检测。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-13 DOI: 10.1080/14737159.2024.2392283

Maria-Evangelia Adami, Evangelos J Giamarellos-Bourboulis, Effie Polyzogopoulou

{"title":"Towards improved point-of-care (POC) testing for patients with suspected sepsis: POC tests for host biomarkers and possible microbial pathogens.","authors":"Maria-Evangelia Adami, Evangelos J Giamarellos-Bourboulis, Effie Polyzogopoulou","doi":"10.1080/14737159.2024.2392283","DOIUrl":"10.1080/14737159.2024.2392283","url":null,"abstract":"Introduction: Sepsis is a heterogeneous syndrome often misdiagnosed. Point-of-care (POC) diagnostic tests are commonly used to guide decision and include host biomarkers and molecular diagnostics.Areas covered: The diagnostic and prognostic accuracy of established and emerging biomarkers for sepsis, including procalcitonin (PCT) soluble urokinase plasminogen activator receptor (suPAR), presepsin, TRAIL/IP-10/CRP, MxA, and MxA-CRP, are analyzed in this review. The clinical utility of the two prevalent molecular techniques for pathogens identification using polymerase chain reaction (PCR) assays is also presented: FILMARRAY and QIAstat-Dx RP.Expert opinion: The rising benefits of the combined use of POC biomarkers with molecular diagnostics in daily clinical routine appear to outperform conventional practices in terms of reduced turnaround time, timely diagnosis, and prompt administration of the appropriate treatment. Yet, this must be further demonstrated in future investigations. However, the cost-effectiveness of POC tests and the high rate of false positive and negative results, indicate the need for a comprehensive clinical evaluation.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The current clinical applications of preimplantation genetic testing (PGT): acknowledging the limitations of biology and technology. 植入前基因检测（PGT）的当前临床应用：承认生物学和技术的局限性。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-11 DOI: 10.1080/14737159.2024.2390187

Georgia Kakourou, Christalena Sofocleous, Thalia Mamas, Christina Vrettou, Joanne Traeger-Synodinos

{"title":"The current clinical applications of preimplantation genetic testing (PGT): acknowledging the limitations of biology and technology.","authors":"Georgia Kakourou, Christalena Sofocleous, Thalia Mamas, Christina Vrettou, Joanne Traeger-Synodinos","doi":"10.1080/14737159.2024.2390187","DOIUrl":"10.1080/14737159.2024.2390187","url":null,"abstract":"Introduction: Preimplantation Genetic Testing (PGT) is a cutting-edge test used to detect genetic abnormalities in embryos fertilized through Medically Assisted Reproduction (MAR). PGT aims to ensure that embryos selected for transfer are free of specific genetic conditions or chromosome abnormalities, thereby reducing chances for unsuccessful MAR cycles, complicated pregnancies, and genetic diseases in future children.Areas covered: In PGT, genetics, embryology, and technology progress and evolve together. Biological and technological limitations are described and addressed to highlight complexity and knowledge constraints and draw attention to concerns regarding safety of procedures, clinical validity, and utility, extent of applications and overall ethical implications for future families and society.Expert opinion: Understanding the genetic basis of diseases along with advanced technologies applied in embryology and genetics contribute to faster, cost-effective, and more efficient PGT. Next Generation Sequencing-based techniques, enhanced by improved bioinformatics, are expected to upgrade diagnostic accuracy. Complicating findings such as mosaicism, mt-DNA variants, variants of unknown significance, or variants related to late-onset or polygenic diseases will however need further appraisal. Emphasis on monitoring such emerging data is crucial for evidence-based counseling while standardized protocols and guidelines are essential to ensure clinical value and respect of Ethical, Legal and Societal Issues.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An overview of early genetic predictors of IgA deficiency. 概述 IgA 缺乏症的早期遗传预测因素。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 DOI: 10.1080/14737159.2024.2385521

Saba Fekrvand, Hassan Abolhassani, Nima Rezaei

{"title":"An overview of early genetic predictors of IgA deficiency.","authors":"Saba Fekrvand, Hassan Abolhassani, Nima Rezaei","doi":"10.1080/14737159.2024.2385521","DOIUrl":"10.1080/14737159.2024.2385521","url":null,"abstract":"Introduction: Inborn errors of immunity (IEIs) refer to a heterogeneous category of diseases with defects in the number and/or function of components of the immune system. Immunoglobulin A (IgA) deficiency is the most prevalent IEI characterized by low serum level of IgA and normal serum levels of IgG and/or IgM. Most of the individuals with IgA deficiency are asymptomatic and are only identified through routine laboratory tests. Others may experience a wide range of clinical features including mucosal infections, allergies, and malignancies as the most important features. IgA deficiency is a multi-complex disease, and the exact pathogenesis of it is still unknown.Areas covered: This review compiles recent research on genetic and epigenetic factors that may contribute to the development of IgA deficiency. These factors include defects in B-cell development, IgA class switch recombination, synthesis, secretion, and the long-term survival of IgA switched memory B cells and plasma cells.Expert opinion: A better and more comprehensive understanding of the cellular pathways involved in IgA deficiency could lead to personalized surveillance and potentially curative strategies for affected patients, especially those with severe symptoms.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Serum biomarkers for predicting microvascular complications of diabetes mellitus. 预测糖尿病微血管并发症的血清生物标志物。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-19 DOI: 10.1080/14737159.2024.2391021

Jiajia Wang, Xiaoyi Song, Ziqiao Xia, Shu Feng, Hangfeng Zhang, Chengjie Xu, Hui Zhang

{"title":"Serum biomarkers for predicting microvascular complications of diabetes mellitus.","authors":"Jiajia Wang, Xiaoyi Song, Ziqiao Xia, Shu Feng, Hangfeng Zhang, Chengjie Xu, Hui Zhang","doi":"10.1080/14737159.2024.2391021","DOIUrl":"10.1080/14737159.2024.2391021","url":null,"abstract":"Introduction: Diabetic microvascular complications such as retinopathy, nephropathy, and neuropathy are primary causes of blindness, terminal renal failure, and neuropathic disorders in type 2 diabetes mellitus patients. Identifying reliable biomarkers promptly is pivotal for early detection and intervention in these severe complications.Areas covered: This review offers a thorough examination of the latest research concerning serum biomarkers for the prediction and assessment of diabetic microvascular complications. It encompasses biomarkers associated with glycation, oxidative stress, inflammation, endothelial dysfunction, basement membrane thickening, angiogenesis, and thrombosis. The review also highlights the potential of emerging biomarkers, such as microRNAs and long non-coding RNAs.Expert opinion: Serum biomarkers are emerging as valuable tools for the early assessment and therapeutic guidance of diabetic microvascular complications. The biomarkers identified not only reflect the underlying pathophysiology but also align with the extent of the disease. However, further validation across diverse populations and improvement of the practicality of these biomarkers in routine clinical practice are necessary. Pursuing these objectives is essential to advance early diagnosis, risk assessment, and individualized treatment regimens for those affected by diabetes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities. 全基因组测序在年轻痴呆症中的临床应用：挑战与机遇。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-12 DOI: 10.1080/14737159.2024.2388765

Aamira Huq, Bryony Thompson, Ingrid Winship

{"title":"Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities.","authors":"Aamira Huq, Bryony Thompson, Ingrid Winship","doi":"10.1080/14737159.2024.2388765","DOIUrl":"10.1080/14737159.2024.2388765","url":null,"abstract":"Introduction: Young onset dementia (YOD) by its nature is difficult to diagnose. Despite involvement of multidisciplinary neurogenetics services, patients with YOD and their families face significant diagnostic delays. Genetic testing for people with YOD currently involves a staggered, iterative approach. There is currently no optimal single genetic investigation that simultaneously identifies the different genetic variants resulting in YOD.Areas covered: This review discusses the advances in clinical genomic testing for people with YOD. Whole genome sequencing (WGS) can be employed as a 'one stop shop' genomic test for YOD. In addition to single nucleotide variants, WGS can reliably detect structural variants, short tandem repeat expansions, mitochondrial genetic variants as well as capture single nucleotide polymorphisms for the calculation of polygenic risk scores.Expert opinion: WGS, when used as the initial genetic test, can enhance the likelihood of a precision diagnosis and curtail the time taken to reach this. Finding a clinical diagnosis using WGS can reduce invasive and expensive investigations and could be cost effective. These advances need to be balanced against the limitations of the technology and the genetic counseling needs for these vulnerable patients and their families.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0