Expert Review of Molecular Diagnostics最新文献

The diagnosis of Huntington's disease by different molecular tools: a systematic review. 不同分子工具对亨廷顿舞蹈病的诊断：系统综述。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-17 DOI: 10.1080/14737159.2025.2534584

Tiago César Gouvêa Moreira, Carmen Lucia Antão Paiva, Luciana de Andrade Agostinho

{"title":"The diagnosis of Huntington's disease by different molecular tools: a systematic review.","authors":"Tiago César Gouvêa Moreira, Carmen Lucia Antão Paiva, Luciana de Andrade Agostinho","doi":"10.1080/14737159.2025.2534584","DOIUrl":"10.1080/14737159.2025.2534584","url":null,"abstract":"Background: Huntington's disease (HD) is a neurodegenerative condition resulting from CAG trinucleotide expansion in the HTT. We reviewed various molecular tools for diagnosing HD and their respective validations and outlined their advantages and disadvantages.Methods: We utilized PubMed, employing Huntington's disease OR chorea AND Molecular Diagnosis OR Molecular Diagnostic Techniques as keywords. This review was submitted to the PROSPERO platform (nºCRD42021253951). The PRISMA checklist was used, and bias assessment followed the guidelines outlined in the Cochrane Handbook for Systematic Reviews of Diagnostic Test Accuracy.Results: 845 articles were retrieved, 17 were selected for full-text review, and two additional articles were manually included, resulting in 19 that presented the validation method: only three studies reported the limits of detection, reproducibility, sensitivity, and specificity, which are essential for validating these techniques, given the unstable nature of CAG regions; six calculated at least one of these parameters, and 10 did none.Conclusion: We identified significant variability in the validation methods with only three thoroughly assessing the key validation parameters. The lack of standardized validation approaches may compromise diagnostic accuracy, impacting genetic counseling and clinical management. TPPCR coupled with capillary electrophoresis, demonstrated high accuracy, whereas gel electrophoresis-based methods exhibited lower sensitivity and specificity.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-10"},"PeriodicalIF":3.9,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144616843","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

Smaller, cheaper, faster: where next for liquid biopsies? 更小、更便宜、更快：液体活检的下一个方向是什么？

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-14 DOI: 10.1080/14737159.2025.2534961

Valerio Gristina, Francesco Pepe, Francesca Rita Ogliari, Tancredi Didier Bazan Russo, Andrea Gottardo, Gianluca Russo, Lorena Incorvaia, Juliette Aimee Guerry, Pasquale Pisapia, Claudia Scimone, Lucia Palumbo, Antonio Galvano, Giuseppe Badalamenti, Viviana Bazan, Giancarlo Troncone, Antonio Russo, Umberto Malapelle

{"title":"Smaller, cheaper, faster: where next for liquid biopsies?","authors":"Valerio Gristina, Francesco Pepe, Francesca Rita Ogliari, Tancredi Didier Bazan Russo, Andrea Gottardo, Gianluca Russo, Lorena Incorvaia, Juliette Aimee Guerry, Pasquale Pisapia, Claudia Scimone, Lucia Palumbo, Antonio Galvano, Giuseppe Badalamenti, Viviana Bazan, Giancarlo Troncone, Antonio Russo, Umberto Malapelle","doi":"10.1080/14737159.2025.2534961","DOIUrl":"10.1080/14737159.2025.2534961","url":null,"abstract":"Introduction: Liquid biopsy (LB) has shifted the paradigm in cancer diagnosis and management, offering a minimally invasive and dynamic approach to understanding tumor biology. Advanced next-generation sequencing (NGS) technologies have significantly improved the accuracy of LB results, enhancing both its analytical and clinical validity. However, tissue biopsy (TB) remains the gold standard for molecular analysis, often negatively impacting the molecular profiling of tumor patients owing to inadequate tissue samples, or lack thereof.Areas covered: In this scenario, LB has become a dynamic and easily-to-handle, integrative source of nucleic acids, filling the gap in tissue sample availability for molecular profiling. Moreover, cost-effectiveness analyses have also shown that when LB is correctly applied to clinical settings, healthcare spending can be optimized, enabling an increase in quality-adjusted life years at an affordable cost.Expert opinion: While LB has the potential to reduce the need for invasive TB and expedite treatment decisions, its cost-effectiveness hinges on long-term clinical outcomes and healthcare resource utilization. In this scenario, 'new era platforms' endowed with advanced liquid handling technologies could not only improve its efficiency and reduce costs but also enable higher-throughput experiments with much larger sample sizes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-19"},"PeriodicalIF":3.9,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144625680","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

Can multiplex molecular panels of microbial pathogens transform respiratory care in critically ill patients? 微生物病原体的多重分子面板能否改变危重患者的呼吸护理？

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-10 DOI: 10.1080/14737159.2025.2527635

Julien Dessajan, Valentine Berti, Laurence Armand-Lefèvre, Guillaume Voiriot, Muriel Fartoukh, Jean-François Timsit

{"title":"Can multiplex molecular panels of microbial pathogens transform respiratory care in critically ill patients?","authors":"Julien Dessajan, Valentine Berti, Laurence Armand-Lefèvre, Guillaume Voiriot, Muriel Fartoukh, Jean-François Timsit","doi":"10.1080/14737159.2025.2527635","DOIUrl":"10.1080/14737159.2025.2527635","url":null,"abstract":"Introduction: Diagnosing severe pneumonia accurately is often difficult because its clinical symptoms overlap with other respiratory illnesses. Treatment of severe lower respiratory tract infection (LRTI) should start early. Rapid identification of responsible microorganisms and appropriate, not overly broad, antibiotic therapy is required to optimize prognosis. Unfortunately, the causative pathogen is often unidentified in pneumonia patients, and conventional bacterial cultures lack sensitivity and have slow turnaround times. Multiplex PCR (mPCR) respiratory panels, which quickly detect multiple bacterial pathogens, some common respiratory viruses, and key resistance genes, have become commercially available and may help achieve these objectives.Areas covered: The authors will describe the available biological and clinical data on the benefits of mPCR in severe LRTI.Expert opinion: mPCR offers early pathogen and resistance detection. However, mPCR panels do not detect all bacterial pathogens and may not differentiate between colonizing and infecting organisms. Detectable resistance genes do not always indicate phenotypic resistance. It should only be used in patients with adequate lower respiratory tract (LRT) samples. Additionally, evidence on whether mPCR panels improve antimicrobial use and patient outcomes remains limited and conflicting. This review provides a thorough overview of the rationale and clinical evidence for the use of mPCR panels for the detection of viral and bacterial pathogens in pneumonia diagnosis and management, as well as future research directions. [Figure: see text].","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-19"},"PeriodicalIF":3.9,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539723","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

Circulating tumor DNA: a biomarker for oncology drug development in phase I clinical trials? 循环肿瘤DNA: I期临床试验中肿瘤药物开发的生物标志物？

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-09 DOI: 10.1080/14737159.2025.2531065

Riccardo Asnaghi, Renato M Marsicano, Valeria Fuorivia, Giulia Malvezzi, Julian D Etessami, Davide Izzo, Carmine Valenza, Giuseppe Curigliano, Dario Trapani

{"title":"Circulating tumor DNA: a biomarker for oncology drug development in phase I clinical trials?","authors":"Riccardo Asnaghi, Renato M Marsicano, Valeria Fuorivia, Giulia Malvezzi, Julian D Etessami, Davide Izzo, Carmine Valenza, Giuseppe Curigliano, Dario Trapani","doi":"10.1080/14737159.2025.2531065","DOIUrl":"10.1080/14737159.2025.2531065","url":null,"abstract":"Introduction: Circulating tumor DNA (ctDNA) is a noninvasive and promising biomarker for cancer diagnosis, prognosis, and therapeutic monitoring, offering significant potential for real-time insights into tumor dynamics when compared to traditional tissue-based biopsies. Phase I oncology clinical trials, which primarily focus on assessing the safety, pharmacodynamics, and early activity of novel cancer therapies, might find in the unique biological characteristics of ctDNA, a valuable biomarker to boost the efficiency of testing novel agents.Areas covered: This review explores the utility of ctDNA as a biomarker in phase I trials, discussing its biological and technical features, clinical relevance, current limitations, and future potential in advancing early clinical drug development.Expert opinion: Despite being an emerging field in phase I trials, ctDNA analysis has proved to be a remarkable tool for patient inclusion, optimal biological dose determination, and early response assessment. However, several challenges hinder its systematic adoption in early trials, including assay variability, biological and anatomical differences across cancer types, and, most notably, the lack of standardization. Systematic implementation of ctDNA in phase I trials could facilitate the development of robust, reproducible noninvasive biomarker models, which can then be further validated in phae II/III trials.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-9"},"PeriodicalIF":3.9,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575139","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

Isothermal amplification for rapid and sensitive detection of hepatitis B virus: what we know so far? and way forward. 等温扩增用于快速、灵敏地检测乙型肝炎病毒：到目前为止我们知道什么？向前走。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-06 DOI: 10.1080/14737159.2025.2527634

Sharan Prerana, Ballamoole Krishna Kumar, Anoop Kumar, Praveen Rai

{"title":"Isothermal amplification for rapid and sensitive detection of hepatitis B virus: what we know so far? and way forward.","authors":"Sharan Prerana, Ballamoole Krishna Kumar, Anoop Kumar, Praveen Rai","doi":"10.1080/14737159.2025.2527634","DOIUrl":"10.1080/14737159.2025.2527634","url":null,"abstract":"Introduction: Despite vaccine availability, Hepatitis B Virus (HBV) remains a major global health threat, especially in areas with low vaccination coverage and poor healthcare. Around 250 million people are chronically infected. Achieving the World Health Organisation's (WHO) 2030 eradication goal is difficult, particularly due to diagnostic challenges in low-resource settings. While HBsAg detection is standard, low antigen levels and mutations hinder its reliability. Though molecular methods for HBV DNA offer high specificity, their cost and complexity limit use in under-resourced areas. Isothermal amplification emerges as a promising alternative, offering a more affordable, effective, and simplified approach to HBV detection, potentially improving access to timely diagnosis and care.Areas covered: This review evaluates the efficacy of various isothermal techniques to give insights into their benefits and limits, guiding researchers and clinicians in selecting the most effective assays for HBV molecular diagnostics.Expert opinion: Recombinase Polymerase Amplification (RPA) and Polymerase Spiral Reaction (PSR) are the most promising isothermal assays for HBV detection in field settings. RPA is faster (∼20 min), works at low temperatures (37-42 °C), and uses stable lyophilized reagents, while PSR is simple, can be clubbed with visual detection, making both ideal for a low-resource setup.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-16"},"PeriodicalIF":3.9,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144527077","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

Intraoperative detection of axillary metastasis of breast cancer using nucleic acid amplification methods: review of advantages and limitations. 术中检测乳腺癌腋窝转移的核酸扩增方法：优势与局限性综述。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-01 Epub Date: 2025-05-27 DOI: 10.1080/14737159.2025.2511811

Dorsa Safari, Sepideh Razi, Nima Rezaei

{"title":"Intraoperative detection of axillary metastasis of breast cancer using nucleic acid amplification methods: review of advantages and limitations.","authors":"Dorsa Safari, Sepideh Razi, Nima Rezaei","doi":"10.1080/14737159.2025.2511811","DOIUrl":"10.1080/14737159.2025.2511811","url":null,"abstract":"Introduction: In the management of breast cancer, the need for assessment of axillary status has been questionable in recent years. However, it is still applicable for making a decision on adjuvant therapy and evaluating the prognosis. Molecular tests have been widely used for intraoperative detection of axillary lymph node metastases and have prevented a second surgery for dissection of the lymph nodes in at least 20% of the cases. Unlike histopathological examination, molecular tests do not need a specialized technologist to provide the results.Areas covered: We have reviewed recent advancements in the assessment of axillary nodes by molecular studies such as one-step nucleic acid amplification (OSNA) assay and metasin test. Our work concentrated on reported thresholds for the tests, economical aspects, and newly developed devices throughout the current literature.Expert opinion: Well-designed clinical trials on molecular assays could lead to individualized management of the axillary, while preventing additional surgical operations in a large proportion of women with breast cancer.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"385-394"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136153","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 novel metabolomic aging score - better than conventional metrics in predicting short-term mortality. 一种新的代谢组学衰老评分-在预测短期死亡率方面优于传统指标。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-01 Epub Date: 2025-05-22 DOI: 10.1080/14737159.2025.2509027

Chong Liu, Yinghong Dai, Xinxue Li, Tiantian Xu, Jinchen Li, Guihu Zhao, Sijia Liu, Bin Li

{"title":"A novel metabolomic aging score - better than conventional metrics in predicting short-term mortality.","authors":"Chong Liu, Yinghong Dai, Xinxue Li, Tiantian Xu, Jinchen Li, Guihu Zhao, Sijia Liu, Bin Li","doi":"10.1080/14737159.2025.2509027","DOIUrl":"10.1080/14737159.2025.2509027","url":null,"abstract":"Introduction: Accurate prediction of short-term mortality is crucial for optimizing clinical prognosis and providing treatment decisions. Conventional metrics, including physiological indicators, laboratory indexes and scoring systems, suffer from limitations in comprehensiveness, accuracy, and dynamism. In contrast, the metabolomic aging score, as an emerging biomarker, offers substantial promise in short-term mortality prediction.Areas covered: By integrating multiple metabolites associated with aging and mortality, the score captures dynamic metabolic shifts, providing a real-time reflection of an individual's health status. This approach enables a more precise assessment of short-term mortality risk across diverse diseases, setting it apart from traditional, disease-specific biomarkers. In addition, the metabolic aging score also shows great application prospects in identifying susceptible populations and providing individualized precision medication. This article discusses the novel role of the metabolomic aging score in mortality prediction, highlighting its superior accuracy compared to conventional metrics.Expert opinion: This score has broad application prospects in the future and also faces challenges such as large-scale validation and standardization. Furthermore, the integration of artificial intelligence (AI) is poised to enhance the clinical utility of the metabolomic aging score, advancing its potential to transform healthcare practices.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"329-340"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110277","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

Cytokines as biomarkers of Huntington's disease progression. 细胞因子作为亨廷顿病进展的生物标志物。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-01 Epub Date: 2025-04-26 DOI: 10.1080/14737159.2025.2498539

Natalia P Rocha, Erin Furr-Stimming, Antonio L Teixeira

引用次数: 0

Advances in pancreatic cancer diagnosis: from DNA methylation to AI-assisted imaging. 胰腺癌诊断的进展：从DNA甲基化到人工智能辅助成像。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-01 Epub Date: 2025-05-21 DOI: 10.1080/14737159.2025.2509022

Rohit Sharma, Kumari Komal, Sourabh Kumar, Rashmi Ghosh, Prachi Pandey, Ghanshyam Das Gupta, Manish Kumar

{"title":"Advances in pancreatic cancer diagnosis: from DNA methylation to AI-assisted imaging.","authors":"Rohit Sharma, Kumari Komal, Sourabh Kumar, Rashmi Ghosh, Prachi Pandey, Ghanshyam Das Gupta, Manish Kumar","doi":"10.1080/14737159.2025.2509022","DOIUrl":"10.1080/14737159.2025.2509022","url":null,"abstract":"Introduction: Pancreatic Cancer (PC) is a highly aggressive tumor that is mainly diagnosed at later stages. Various imaging technologies, such as CT, MRI, and EUS, possess limitations in early PC diagnosis. Therefore, this review article explores the various innovative biomarkers for PC detection, such as DNA methylation, Noncoding RNAs, and proteomic biomarkers, and the role of AI in PC detection at early stages.Area covered: Innovative biomarkers, such as DNA methylation genes, show higher specificity and sensitivity in PC diagnosis. Additionally, various non-coding RNAs, such as long non-coding RNAs (lncRNAs) and microRNAs, show high diagnostic accuracy and serve as diagnostic and prognostic biomarkers. Additionally, proteomic biomarkers retain higher diagnostic accuracy in different body fluids. Apart from this, the utilization of AI showed that AI surpassed the radiologist's diagnostic performance in PC detection.Expert opinion: The combination of AI and advanced biomarkers can revolutionize early PC detection. However, large-scale, prospective studies are needed to validate its clinical utility. Further. standardization of biomarker panels and AI algorithms is a vital step toward their reliable applications in early PC detection, ultimately improving patient outcomes. [Figure: see text].","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"371-383"},"PeriodicalIF":3.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101701","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

Non-conventional diagnostic methods for invasive fungal infections. 侵袭性真菌感染的非常规诊断方法。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2025-07-01 Epub Date: 2025-06-03 DOI: 10.1080/14737159.2025.2509026

K Rosam, S Steixner, A Bauer, C Lass-Flörl

引用次数: 0