Expert Review of Molecular Diagnostics最新文献

Objectives: This study aimed to detect the correlation between SOWAHB polymorphisms and Thyroid cancer (TC) risk in the Chinese Han population.

Methods: We genotyped SOWAHB variants in 510 TC patients and 509 controls using Agena MassARRAY. We assessed the association between SOWAHB polymorphisms and TC susceptibility, with the significant results evaluated through FPRP analysis. We predicted TC risk by the SNP-SNP interaction, analyzed by MDR.

Results: Carriers with rs2703129 CC had a lower probability of TC (codominant, recessive: p = 0.002), while subjects with rs1874564 AG had an increased risk of developing TC (codominant, recessive: p = 0.000, log-additive: p = 0.028). In subjects aged > 45 years, rs2703129 may reduce TC predisposition (codominant: p = 0.011, recessive: p = 0.007), but there was an increased association between rs1874564 and TC risk (codominant: p = 0.030, dominant: p = 0.047). Also, rs2703129 was associated with a lower risk of TC among males (codominant: p = 0.018, recessive: p = 0.013). Conversely, rs1874564 was associated with an increased risk of TC in females (codominant: p = 0.001, dominant: p = 0.003).

Conclusion: SOWAHB SNPs were related to the occurrence of TC, and rs2703129 may be a protective site for TC.

Background: Breathomics is an emerging area focusing on monitoring and diagnosing pulmonary diseases, especially lung cancer. This research aims to employ metabolomic methods to create a breathprint in human-expelled air to rapidly identify lung cancer and its stages.

Research design and methods: An electronic nose (e-nose) system with five metal oxide semiconductor (MOS) gas sensors, a microcontroller, and machine learning algorithms was designed and developed for this application. The volunteers in this study include 114 patients with lung cancer and 147 healthy controls to understand the clinical potential of the e-nose system to detect lung cancer and its stages.

Results: In the training phase, in discriminating lung cancer from controls, the XGBoost classifier model with 10-fold cross-validation gave an accuracy of 91.67%. In the validation phase, the XGBoost classifier model correctly identified 35 out of 42 patients with lung cancer samples and 44 out of 51 healthy control samples providing an overall sensitivity of 83.33% and specificity of 86.27%.

Conclusions: These results indicate that the exhaled breath VOC analysis method may be developed as a new diagnostic tool for lung cancer detection. The advantages of e-nose based diagnostics, such as an easy and painless method of sampling, and low-cost procedures, will make it an excellent diagnostic method in the future.

Introduction: Body fluid markers could be helpful to predict the conversion into clinically definite multiple sclerosis (MS) in people with a first demyelinating event of the central nervous system (CNS). Consequently, biomarkers such as oligoclonal bands, which are integrated in the current MS diagnostic criteria, could assist early MS diagnosis.

Areas covered: This review examines existing knowledge on a broad spectrum of body fluid markers in people with a first CNS demyelinating event, explores their potential to predict conversion to MS, to assess MS disease activity, as well as their utility to differentiate MS from atypical demyelinating disorders such as neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein associated disease.

Expert opinion: This field of research has shown a dramatic increase of evidence, especially in the last decade. Some biomarkers are already established in clinical routine (e.g. oligoclonal bands) while others are currently implemented (e.g. kappa free light chains) or considered as breakthroughs (e.g. neurofilament light). Determination of biomarkers poses challenges for continuous monitoring, especially if exclusively detectable in cerebrospinal fluid. A handful of biomarkers are measurable in blood which holds a significant potential.

Introduction: Testing at the point of care (we also refer to the 'point of need'), with rapid, actionable results reported to the patient and provider within hours can impact the individual as well as public health. Faster testing is good for patients and public health outcomes during 'peace time' (outside of the pandemic setting).

Areas covered: Testing at the point of need was important during the COVID-19 pandemic to meet testing capacity demands, providing actionable results, and for providing testing within communities to increase access for all populations. Resources were acquired and built up dramatically during the pandemic as part of the response. With the end of the COVID-19 public health emergency and transition back to 'peace time' some testing sites have successfully shifted to using this capacity for testing for other critical needs, like sexually transmitted infection (STI) testing, and response to other seasonal diseases and for outbreak response.

Expert opinion: The increased testing capacity added to handle unprecedented testing volume during the COVID-19 pandemic can be repurposed for other critical infectious diseases during 'peace time' (post-COVID-19 pandemic). This maintains testing capacity for the next pandemic.

Introduction: Central nervous system infections (CNSI) disproportionately affect individuals in low-resource settings where diagnosis is challenging; large proportions of patients never receive a confirmed microbiological diagnosis resulting in inadequate management and high mortality. The epidemiology of CNSI varies globally and conventional diagnostics deployed in resource-limited settings have significant limitations, with an urgent need for improved diagnostic strategies.

Areas covered: This review describes molecular platforms and other novel diagnostics used in the diagnosis of CNSI that are applicable to resource-limited settings. An extensive literature search of Medline and PubMed was performed. The emphasis is on investigations targeting infections of relevance to resource-limited settings either due to variation in regional CNSI epidemiology or due to increased prevalence in patients with immunosuppression. This includes commercially available multiplex PCR platforms, mycobacterial PCR platforms, and rapid diagnostics tests. To offer a framework for the optimal implementation in clinical settings, existing evidence highlighting the advantages and limitations of available platforms is reviewed.

Expert opinion: The implementation of molecular platforms and other novel diagnostics has the potential to transform CNSI diagnosis in resource-limited settings, with several examples of successful rollout of novel diagnostics such as Xpert MTB/RIF Ultra and cryptococcal antigen testing.

Introduction: Over the last years, severe respiratory viral infections, particularly those caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the influenza virus, have emerged as risk factor for viral-associated pulmonary aspergillosis (VAPA) among critically ill patients. Delays in diagnosis of VAPA are associated with increased mortality. Point-of-care-tests may play an important role in earlier diagnosis of VAPA and thus improve patient outcomes.

Areas covered: The following review will give an update on point-of-care tests for VAPA, analyzing performances in respiratory and blood specimens.

Expert opinion: Point-of-care tests have emerged, and particularly the IMMY Aspergillus galactomannan lateral flow assay (LFA) shows performances comparable to the galactomannan ELISA for diagnosis of VAPA. Notably, nearly all evaluations of POC tests for VAPA have been performed in COVID-19 patients, with very limited data in influenza patients. For early diagnosis of COVID associated pulmonary aspergillosis (CAPA), the LFA has shown promising performances in respiratory samples, particularly in bronchoalveolar lavage fluid, and may thereby help in improving patient outcomes. In contrast, serum LFA testing may not be useful for early diagnosis of disease, except in cases with invasive tracheobronchial aspergillosis.

Introduction: Molecular diagnostic systems for point-of-care (POC) testing are nowadays routinely used and are part of many labs. Although often intended for bedside use outside of the microbiology lab, there is still room for expansion.

Areas covered: This review discusses the two techniques that are currently the most widespread, real-time polymerase-chain reaction (RT-PCR) and loop-mediated isothermal amplification (LAMP). An overview is provided of the various manufacturers and products as well as the evidence and current use in clinical practice. The article further sheds light on some newer techniques, such as CRISPR-based diagnostics and lab-on-a-chip, which are still in development.

Expert opinion: With many new platforms and techniques still in the pipeline and their potential currently not yet fully exploited, we expect the use of molecular POC testing to increase in the years to come. However, even when used in hospital - in lab, the main advantages of the tests being fast and easy to perform already provide significant benefits in terms of patient outcome.

Introduction: Gut microbes pose challenges like colon inflammation, deadly diarrhea, antimicrobial resistance dissemination, and chronic disease onset. Development of early, rapid and specific diagnosis tools is essential for improving infection control. Point-of-care testing (POCT) systems offer rapid, sensitive, low-cost and sample-to-answer methods for microbe detection from various clinical and environmental samples, bringing the advantages of portability, automation, and simple operation.

Areas covered: Rapid detection of gut microbes can be done using a wide array of techniques including biosensors, immunological assays, electrochemical impedance spectroscopy, mass spectrometry and molecular biology. Inclusion of Internet of Things, machine learning, and smartphone-based point-of-care applications is an important aspect of POCT. In this review, the authors discuss various fast diagnostic platforms for gut pathogens and their main challenges.

Expert opinion: Developing effective assays for microbe detection can be complex. Assay design must consider factors like target selection, real-time and multiplex detection, sample type, reagent stability and storage, primer/probe design, and optimizing reaction conditions for accuracy and sensitivity. Mitigating these challenges requires interdisciplinary collaboration among scientists, clinicians, engineers, and industry partners. Future efforts are essential to enhance sensitivity, specificity, and versatility of POCT systems for gut microbe detection and quantification, advancing infectious disease diagnostics and management.