Expert Review of Molecular Diagnostics最新文献

Introduction: Distinguishing bacterial from viral infections remains a challenge due to clinically indistinguishable presentations. Non-infectious conditions such as malignancy, pulmonary emboli and rheumatological conditions may also present with fever. Consequently, patients are often over-treated with antimicrobial agents or may not receive adequate therapy.

Areas covered: This article provides a comprehensive review of a novel protein host-signature assay, the MeMed BV assay, that distinguishes bacterial from viral infections. The focus is on the use of the test in respiratory tract infections including assay performance characteristics, clinical profiles and data on cost-effectiveness. The changing landscape from the use of single inflammatory biomarkers, such as C-reactive protein, to alternative and diverse host signature biomarkers, is also discussed.

Expert opinion: The MeMed BV assay is one of several novel host biomarkers that provide rapid results and demonstrate enhanced performance compared to single test biomarkers. This assay has been validated by a large number of carefully controlled clinical trials that demonstrate improved performance characteristics for distinguishing bacterial infections or combined bacterial/viral infections from viral or noninfectious causes of fever compared to C-reactive protein and procalcitonin. However, these trials may over-state assay performance as samples with equivocal band results are often not included in the statistical analysis. More real-world studies addressing clinical implementation of the MeMed BV assay or other biomarkers into ambulatory settings are needed.

Introduction: Digital human immunodeficiency virus self-testing (HIVST) leverages digital supports, enhancing accessibility, privacy, and early detection of HIV, empowering individuals to manage their HIV status and facilitating timely linkage to care. These advancements contribute to reduced HIV transmission and thereby lead to improved health outcomes.

Areas covered: This perspective examines the current landscape of digital HIVST strategies, highlighting challenges that must be addressed and opportunities that are presented as the field evolves.

Expert opinion: Implementing advances in digital HIVST requires a unified digital network architecture that integrates proven tools (digital supports) within the World Health Organization's One Health Agenda. This includes strategies effective in diverse settings, supported by evolving governance and ethics frameworks that ensure data safety and privacy. Although data on linkages to care are strong, digital HIVST strategies may need further field validation, especially in low-income countries. Key challenges include systems integration, data privacy safeguards, and implementation of proven digital supports. Embracing digital readers, machine learning solutions, chatbots, and wearable solutions can improve outcomes that translate to significant public health benefits in the context of HIV elimination. Investing in digital technologies and integrating digital HIVST into HIV prevention and care programs can enable progress toward UNAIDS elimination targets.

Introduction: Blunt cardiac injury (BCI), associated with high morbidity and mortality, involves multiple injuries. With no widely accepted gold standard diagnostic test and molecular biomarkers still in debate and far from application in clinical practice, exploring specific molecular biomarkers of BCI is of great significance. The clarification of molecular biomarkers can improve the diagnosis of BCI, leading to more precise care for victims in various situations.

Areas covered: Using the search term 'Biomarker AND Blunt cardiac injury,' we carefully reviewed related papers from June 2004 to June 2024 in PubMed and CNKI. After reviewing, we included 20 papers, summarizing the biomarkers reported in previous studies, and then reviewed molecular biomarkers such as troponins, Nterminal proBtype natriuretic peptide (NT proBNP), hearttype fatty acid binding protein (hFABP), and lactate for BCI diagnosis. Finally, valuable views on future research directions for diagnostic biomarkers of BCI were presented.

Expert opinion: Several advanced technologies have been introduced into clinical medicine, which have ultimately changed the research on cardiac diseases in recent years. Some biomarkers have been identified and utilized for BCI diagnosis. Herein, we summarize the latest relevant information as a reference for clinical practice and future studies.

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.

Introduction: Lung Cancer (LC) continues to be a leading cause of cancer-related mortality globally, largely due to the asymptomatic nature of its early stages and the limitations of current diagnostic methods such as Low-Dose Computed Tomography (LDCT), whose often result in late diagnosis, highlighting an urgent need for innovative, minimally invasive diagnostic techniques that can improve early detection rates.

Areas covered: This review delves into the potential of genomic characterization and mutational profiling to enhance early LC diagnosis, exploring the current state and limitations of traditional diagnostic approaches and the revolutionary role of Liquid Biopsies (LB), including cell-free DNA (cfDNA) analysis through fragmentomics and methylomics. New genomic technologies that allow for earlier detection of LC are scrutinized, alongside a detailed discussion on the literature that shaped our understanding in this field.

Expert opinion: Despite the promising advancements in genomic characterization techniques, several challenges remain, such as the heterogeneity of LC mutations, the high cost, and limited accessibility of Next-Generation Sequencing (NGS) technologies. Additionally, there is a critical need of standardized protocols for interpreting mutational data. Future research should focus on overcoming these barriers to integrate these novel diagnostic methods into standard clinical practice, potentially revolutionizing the management of LC patients.

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.

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.