Expert Review of Molecular Diagnostics

OBJECTIVE: To evaluate whether the fetal fraction of cell-free DNA at the first and second trimesters is associated with spontaneous preterm birth. METHODS: This was a retrospective cohort study with singleton pregnancies who underwent noninvasive prenatal testing. According to pregnancy outcome, eligible patients were divided into a delivery group ≥37 weeks of pregnancy (term group) and <37 weeks of pregnancy (spontaneous preterm group)...

BACKGROUND: An important factor in tumor development and progression is the tumor microenvironment (TME), which is heterogeneous. Previous studies have mainly investigated the expression profile and prognostic values of genes in gastric cancer (GC) at the cell population level but neglected the interactions and heterogeneity between cells. METHODS: The pattern of ligand-receptor (LR) interactions was delineated in a scRNA-seq dataset containing 44953 cells from nine GC patients and fourth bulk RNA-seq datasets including data from 1159 GC patients...

No abstract text is available yet for this article.

INTRODUCTION: Heart failure (HF) is a dominant health problem with an overall poor prognosis. Natriuretic peptides (NPs) are upregulated in HF as a compensatory mechanism. They have extensively been used for diagnosis and risk stratification. AREAS COVERED: This review addresses the history and physiology of NPs in order to understand their current role in clinical practice. It further provides a detailed and updated narrative review on the utility of those biomarkers for risk stratification, monitoring, and guiding therapy in HF...

INTRODUCTION: Diseases related to chronic persisting inflammation are amongst the largest sources of morbidity and health costs, yet biomarkers for early diagnosis, prognosis, and treatment response are not sufficiently effective. AREAS COVERED: This narrative review discusses how inflammation concepts have evolved from ancient times to the present, and places in perspective the use of blood-based biomarkers to assess chronic inflammatory diseases. From reviews of biomarkers in specific diseases, emerging biomarker classifiers and their clinical utility is discussed...

No abstract text is available yet for this article.

INTRODUCTION: The clinical and economical burdens of invasive fungal diseases (IFDs) remain substantial despite advances in diagnostics and therapeutics. Major challenges in diagnosis of IFDs are difficulty in obtaining appropriate specimens for histopathology examination and prolonged turnaround time for fungal cultures. Molecular assays for direct detection of fungal DNA from sterile sites such as blood can provide definitive diagnosis of IFDs in a reduced turnaround time. The ePlex BCID-FP Panel from GenMark Diagnostics, a member of the Roche corporation is currently the largest commercial multiplex fungal pathogen identification panel for blood cultures and has potential for early optimization of treatment and improvement of patient outcomes...

INTRODUCTION: The global healthcare burden associated with surgery is substantial, with many patients experiencing perioperative complications. Cardiac troponin I and T measured with high-sensitivity assays are cardiac specific biomarkers that associate closely with adverse outcomes in most patient populations. Perioperative physiological stress can induce troponin release from cardiomyocytes, a condition known as perioperative myocardial injury (PMI). PMI is associated with increased risk of poor short- and long-term outcomes, and current European guidelines recommend screening for PMI in at-risk individuals undergoing non-cardiac surgery...

INTRODUCTION: Age-related macular degeneration (AMD) is a leading cause of irreversible visual impairment worldwide. The endpoint of AMD, both in its dry or wet form, is macular atrophy (MA) which is characterized by the permanent loss of the RPE and overlying photoreceptors either in dry AMD or in wet AMD. A recognized unmet need in AMD is the early detection of MA development. AREAS COVERED: Artificial Intelligence (AI) has demonstrated great impact in detection of retinal diseases, especially with its robust ability to analyze big data afforded by ophthalmic imaging modalities, such as color fundus photography (CFP), fundus autofluorescence (FAF), near-infrared reflectance (NIR), and optical coherence tomography (OCT)...

INTRODUCTION: Global aging has made osteoporosis an increasingly serious public health problem. Osteoporotic fractures seriously affect the quality of life of patients and increase disability and mortality rates. Early diagnosis is important for timely intervention. The continuous development of individual- and multi-omics methods is helpful for the exploration and discovery of biomarkers for the diagnosis of osteoporosis. AREAS COVERED: In this review, we first introduce the epidemiological status of osteoporosis and then describe the pathogenesis of osteoporosis...

INTRODUCTION: A rapid diagnosis of myocardial infarction (MI) is of utmost importance in order to provide adequate therapy for patients that suffer from acute ischemic cardiac injury. Cardiac troponin has evolved as the most significant biomarker in the diagnostic assessment of MI, but its evaluation and management can be challenging. Different troponin based diagnostic protocols have been suggested for the diagnosis of MI and they have been validated and further developed over the years...

INTRODUCTION: Testicular germ cell tumors (TGCT) are the most commonly diagnosed cancers amongst young men. Although these tumors usually have a good prognosis and are highly treatable, clinicians and pathologists still face specific dilemmas inherent to this tumor model, which is highly due to its developmental origin. AREAS COVERED: A wide-ranging review of the currently available and future prospects in the field of TGCT biomarkers is presented. EXPERT OPINION: TGCT biomarkers' field has been widely studied in the last decade...

BACKGROUND: The autophagy-associated transmembrane protein EI24 is associated with cancer growth and patient survival. We aimed to explore the prognostic role and immune infiltration characteristics of EI24 at a pan-cancer level. METHODS: We collected data from multiple databases to explore the expression and prognostic role of EI24 in various cancers. Correlations between EI24 expression and DNA methylation, RNA modification, tumor mutation burden (TMB), microsatellite instability (MSI), immune moderator, immune checkpoint-related genes, the tumor immune microenvironment, and clinicopathological characteristics were analyzed...

OBJECTIVE: This study aimed to screen and identify common variants and long noncoding RNA (lncRNA) single nucleotide polymorphisms (SNPs) associated with gastric cancer risk, and construct prediction models based on polygenic risk score (PRS). METHODS: The risk factors associated with gastric cancer were screened following meta-analysis and bioinformatics, verified by population-based case-control study. We constructed PRS and weighted genetic risk scores (wGRS) derived from the validation data set...

INTRODUCTION: Opioid use disorder (OUD) is a global problem that often begins with prescribed medications. The available treatment and maintenance plans offer solutions for the consumption rate by individuals leaving the outstanding problem of relapse, which is a major factor hindering the long-term efficacy of treatments. AREAS COVERED: Understanding the neurobiology of addiction and relapse would help identifying the core causes of relapse and distinguish vulnerable from resilient individuals, which would lead to more targeted and effective treatment and provide diagnostics to screen individuals who have a propensity to OUD...

INTRODUCTION: In the UK alone, the incidence of cervical cancer is increasing, hence an urgent need for early and rapid detection of cancer before it develops. Spectroscopy in conjunction with machine learning offers a disruptive technology that promises to be pick up cancer early as compared to the current diagnostic techniques used. AREAS COVERED: This review article explores the different spectroscopy techniques that have been used for the analysis of cervical cancer...

BACKGROUND: Pathology-supported genetic testing (PSGT) enables transitioning of risk stratification from the study population to the individual. RESEARCH DESIGN AND METHODS: We provide an overview of the translational research performed in postmenopausal breast cancer patients at increased risk of osteoporosis due to aromatase inhibitor therapy, as the indication for referral. Both tumour histopathology and blood biochemistry levels were assessed to identify actionable disease pathways using whole exome sequencing (WES)...

No abstract text is available yet for this article.

This report provides an overview of the highlights of the 12th European Meeting on Molecular Diagnostics held in Noordwijk aan Zee, The Netherlands, 12-14 October 2022. This 3-day conference covered many relevant topics in the field of molecular diagnostics in humans i.e . oncology, infectious diseases, laboratory medicine, pharmacogenetics, pathology and preventive medicine. Other relevant topics included quality management, laboratory automation, diagnostic preparedness and lessons learned from the COVID pandemic...

BACKGROUND: Effective and precise SARS-CoV-2 detection assays are crucial for maintaining regular hospital routines and identifying infected hospital employees and infected patients before hospital admission. Inconclusive PCR test results of potentially infectious borderline SARS-CoV-2 patients can confuse clinicians and delay appropriate infection control. OBJECTIVES AND STUDY DESIGN: In this retrospective study, we followed up borderline SARS-CoV-2 patients tested (from the second sample with the same method) at the Clinical Department of Clinical Microbiology...