Expert Review of Molecular Diagnostics最新文献

{"title":"Cell avidity in CAR-T cell therapy.","authors":"Yayu Chen, Zhishuang Ye, William C Cho, Daniel Xin Zhang","doi":"10.1080/14737159.2025.2565274","DOIUrl":"10.1080/14737159.2025.2565274","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-4"},"PeriodicalIF":3.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112239","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}

{"title":"Association between the APOC3 (rs2854116), ESR2 (rs3020450), HFE (rs1799945), and MMP1 (rs1799750) gene polymorphisms and lipodystrophy in people living with HIV receiving antiretroviral therapy.","authors":"Andreia Soares da Silva, Maria Do Socorro de Mendonça Cavalcanti, Taciana Furtado de Mendonça Belmont, Ricardo Arraes de Alencar Ximenes, Débora Nascimento da Nóbrega, Roberta Dos Santos Souza, Isabela Cristina Cordeiro Farias, Kleyton Palmeira Do Ó, Luydson Richardson Silva Vasconcelos, George Tadeu Nunes Diniz, Demócrito de Barros Miranda Filho","doi":"10.1080/14737159.2025.2562863","DOIUrl":"10.1080/14737159.2025.2562863","url":null,"abstract":"<p><strong>Background: </strong>The pathogenesis of lipodystrophy in people living with HIV (PLWHIV) receiving antiretrovirals appears to be multifactorial and may involve genetic factors; however, it is not yet fully understood. We verified the association between single nucleotide polymorphisms in the APOC3-rs2854116, ESR2-rs3020450, HFE-rs1799945 and MMP1-rs1799750 genes and lipodystrophy and its subtypes in PLWHIV receiving antiretroviral.</p><p><strong>Methods: </strong>Design: cross-sectional study. Lipodystrophy definition was based on self-report. Genotyping of the polymorphisms was performed using real-time polymerase chain reaction.</p><p><strong>Results: </strong>Lipodystrophy was reported in 204/404 participants (51%), being 89/204 with mixed lipodystrophy, 72/204 with lipohypertrophy, and 43/204 with lipoatrophy. There was no association between APOC3, HFE, and MMP1 polymorphisms and lipodystrophy. The frequency of AA genotype (<i>p</i>=0.004/OR=3.33/CI=1.52-7.29) and of A allele (<i>p</i>=0.031/OR=1.72/CI=1.08-2.75) of the ESR2 polymorphism was higher in individuals with lipoatrophy compared to those without lipodystrophy. In the multivariate analysis, viral load >40copies/mL (<i>p</i>=0.037/OR=2.52/CI=1.03-6.91) and current use of zidovudine (<i>p</i>=0.007/OR=2.97/CI=1.32-6.54) were associated with lipoatrophy.</p><p><strong>Conclusion: </strong>Participants with lipoatrophy had higher frequency of the AA genotype and the A allele of the ESR2-rs3020450 polymorphism. In addition, viral load >40 copies/mL and current use of zidovudine were associated with lipoatrophy, suggesting a potential involvement of this genetic variant in the pathogenesis of lipoatrophy in PLWHIV receiving antiretroviral.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-8"},"PeriodicalIF":3.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079987","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}

{"title":"Molecular characterization of sensitization profiles of <i>Cannabis sativa</i>.","authors":"Alessandro Toscano, Vito Sabato, Christel Mertens, Jessy Elst, Michel Van Houdt, Michiel Beyens, Margo M Hagendorens, Didier G Ebo","doi":"10.1080/14737159.2025.2562869","DOIUrl":"10.1080/14737159.2025.2562869","url":null,"abstract":"<p><strong>Introduction: </strong>IgE-mediated <i>Cannabis</i> allergy (CA) is a potentially severe immediate hypersensitivity reaction caused by exposure to cannabis derivatives, which is frequently associated with a secondary form of plant food allergy.</p><p><strong>Areas covered: </strong>Since the first description of CA in the 1970s, the research on CA and understanding of its allergenic profile has grown. To date, five <i>Cannabis sativa</i> allergens have been officially registered and many others have been identified as putative. This review provides a comprehensive overview of molecular insights in the field as of 2025.</p><p><strong>Expert opinion/commentary: </strong>Many questions concerning CA remain unanswered, and the exact clinical role of certain allergens is unclear to date. Given the increasing worldwide use of cannabis, further research is needed to fill current knowledge gaps and provide accessible and effective diagnostic tools.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-6"},"PeriodicalIF":3.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069265","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}

{"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":"<p><strong>Background: </strong>Huntington's disease (HD) is a neurodegenerative condition resulting from CAG trinucleotide expansion in the <i>HTT</i>. We reviewed various molecular tools for diagnosing HD and their respective validations and outlined their advantages and disadvantages.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"621-630"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","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}

{"title":"Detecting glycoproteins predictors of traumatic brain injury.","authors":"Mona Goli, Cristian D Gutierrez-Reyes, Vishal Sandilya, Sarah Sahioun, Ayobami Oluokun, Odunayo Oluokun, Waziha Purba, Favour Chukwubueze, Md Mostofa Al Amin Bhuiyan, Stefania Mondello, Kevin K Wang, Firas Kobeissy, Yehia Mechref","doi":"10.1080/14737159.2025.2543758","DOIUrl":"10.1080/14737159.2025.2543758","url":null,"abstract":"<p><strong>Introduction: </strong>Traumatic brain injury (TBI) is a leading cause of death and disability worldwide, with current diagnostic tools often inadequate for predicting long-term outcomes. Omics studies have identified specific biomarkers for TBI, and recently, glycoproteins have emerged as promising novel biomarkers due to their pivotal roles in cellular signaling and structural integrity.</p><p><strong>Areas covered: </strong>This review explores the biological significance of glycoproteins in TBI, their altered glycosylation patterns post-injury, and their role as diagnostic and prognostic indicators. We summarize analytical techniques for glycoprotein detection, such as mass spectrometry and antibody-based assays. Key glycoproteins, including neurofilament proteins, GFAP, tau, and amyloid precursor proteins, are examined for clinical relevance. This review addresses challenges in glycoprotein biomarker research, like glycosylation complexity and the need for precise detection methods.</p><p><strong>Expert opinion: </strong>Clinical research from our lab and others have underscored the role of glycoproteins in diagnosing TBI, assessing injury severity, and guiding therapeutic strategies. By addressing the current state and future directions of glycoprotein research, we aim to potentially highlight the path toward improved diagnostic and therapeutic approaches for TBI.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"591-604"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798570","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}

{"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":"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>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.</p><p><strong>Expert opinion: </strong>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.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"545-553"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","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}

{"title":"Molecular deciphering of melanoma: advances and challenges of neoadjuvant and perioperative treatment.","authors":"Elena X Stea, Georgios K Glantzounis, Nikolaos Kydonakis, Dimitrios H Roukos","doi":"10.1080/14737159.2025.2544233","DOIUrl":"10.1080/14737159.2025.2544233","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"517-519"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144788628","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}

{"title":"Progress in diabetes diagnostics and treatment monitoring: breakthroughs in molecular and clinical testing.","authors":"Jelena Radovanović, Zoran Gluvic, Anastasija Pajčin, Sonja Zafirović, Sanja Soskić, Jasjit S Suri, Esma R Isenović","doi":"10.1080/14737159.2025.2555867","DOIUrl":"10.1080/14737159.2025.2555867","url":null,"abstract":"","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"521-524"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144948120","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}

{"title":"The potency of cell-based assays to predict response to TNF inhibitor therapy.","authors":"Noa Rose, Ari Polachek, Daniel Levinson, Ori Elkayam, Smadar Gertel","doi":"10.1080/14737159.2025.2543742","DOIUrl":"10.1080/14737159.2025.2543742","url":null,"abstract":"<p><strong>Introduction: </strong>Tumor necrosis factor inhibitors (TNFi) have revolutionized rheumatic and inflammatory diseases therapy. Despite their efficacy, at least 30% of patients do not respond to TNFi therapy. There are five FDA-approved TNFis and several TNFi biosimilars, which are equivalent to their reference drugs. Although all TNFi drugs neutralize the TNF cytokine, they differ in many structural and pharmacokinetic properties. These differences may lead to varying patient responses, making one TNFi, but not another, effective for a given patient. An accurate prediction of a priori responsiveness to therapy, rather than trial and error, would therefore be of great value. Biomarkers that may guide the optimal TNFi choice are an unmet need.</p><p><strong>Areas covered: </strong>The authors discuss the diagnostic and predictive utilities of Cell-Based Assays (CBAs) for individualized TNFi therapy. Selection of TNFi can be based upon a given patient's immune cell response to the various TNFi drugs to predict their clinical outcomes to those drugs.</p><p><strong>Expert opinion: </strong>CBAs allow to assess the response of multiple TNFi drugs simultaneously by measuring biomarkers that could distinguish between TNFi responders and non-responders, effectively prioritizing the TNFi of choice. This literature search focuses on biomarkers and techniques that could be used as predictive CBAs for clinical response to TNFi.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"605-619"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144788630","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}

{"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":"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>The authors will describe the available biological and clinical data on the benefits of mPCR in severe LRTI.</p><p><strong>Expert opinion: </strong>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].</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"525-543"},"PeriodicalIF":3.6,"publicationDate":"2025-09-01","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}