Background The consequences for health outcomes of the discordance in cystatin C-based (eGFRcys) and creatinine-based (eGFRcr) estimated glomerular filtration rates are gaining attention. However, the association of discordance with all-cause mortality in the general population has not been explored. Methods A total of 325 356 UK Biobank participants, 40 to 69 years of age, were followed for a median

BACKGROUND Whole-genome sequencing (WGS) has limitations in clinical diagnostics due to host DNA interference and lower pathogen load in clinical samples compared to cultured isolates, which reduce the effective sequencing depth and compromise the detection of resistance-associated mutations. As our understanding of the relationship between genotypes and phenotypes improves, targeted next-generation

Background Circulating tumor DNA present in cell-free DNA (cfDNA) serves as diagnostic, predictive, and prognostic markers in cancer patients. In lymphoma patients, clonal immunoglobulin (cIg) sequences enable accurate identification of disease states. Despite its importance, there is sparse literature surrounding the preanalytical and analytical conditions that affect cIg detection in cfDNA. This

Background Access to Hb A1c testing in low- and middle-income countries (LMICs) can be limited, especially in rural areas. This has led to an increased interest in the potential role of point-of-care testing (POCT) for Hb A1c. The analytical performance of many of these devices is poorly understood but accurate and precise measurement is essential for effective diabetes management. Methods Verification

Background Discordance among published findings on the plasma concentrations, response dynamics, and clinical associations of plasma neprilysin (NEP) in health and heart failure (HF) require clarification. Method Using a newly developed glycosylation-sensitive monoclonal antibody sandwich ELISA (NEPCVRI), plasma NEP was measured in 99 non-HF controls, 95 HF patients with preserved ejection fraction

Background Existing circulating cell-free DNA (cfDNA) assays are primarily centralized, requiring specialized sample handling and transportation. Implementing a flexible, decentralized sequencing system at point of care, with minimal technical oversight, can enhance turnaround times and patient access to genomic profiling. In this study, we aimed to evaluate the clinical feasibility of an automated

Background There is a lack of robust biological variation (BV) data for porphyria-related biomarkers. Our study aimed to estimate BV of erythrocyte total, metal-free, and zinc protoporphyrin IX in patients with erythropoietic protoporphyria (EPP) and healthy subjects and to explore the clinical implications of these data. Methods Fourteen patients with EPP and 15 healthy subjects were sampled quarterly

Background Metagenomic cell-free DNA (cfDNA) sequencing provides a new avenue for diagnosing infectious diseases. Owing to the low concentration and highly fragmented nature of microbial cfDNA in plasma, coupled with methodological complexity, ensuring accurate and comparable metagenomic cfDNA sequencing results has proved challenging. This study aims to evaluate the performance of metagenomic cfDNA

Background In 2009, the Minimum Information for Publication of Quantitative Real-Time PCR Experiments (MIQE) guidelines established standards for the design, execution, and reporting of quantitative PCR (qPCR) in research. The expansion of qPCR into numerous new domains has driven the development of new reagents, methods, consumables, and instruments, requiring revisions to best practices that are

Background There have been conflicting messages about the influence of female sex hormones on women's health, with historical messaging indicating that use of estrogen and/or progesterone in peri- or postmenopause poses a significant clinical risk to cisgender women. More recent guidance indicates that the benefit of hormone therapy (HT) outweighs the risks for symptomatic women. Exogenous estrogen

Background Thiamine diphosphate (TDP), the active form of vitamin B1, plays an essential role in energy metabolism. TDP is analyzed in the clinical laboratory to assess the nutritional status of individuals at risk of deficiency. In recent years, demand for vitamin B1 testing has increased dramatically, prompting implementation of a high-throughput assay. We developed a method using rapid sample preparation

Background Methylglyoxal (MGO) is a potent glycating agent that contributes to the pathogenesis of diabetes. However, MGO is unstable in plasma without demanding sample preparation at blood collection, limiting its clinical utility as a biomarker. We aimed to discover reliable MGO-glycated albumin (ALB)-derived biomarkers and to assess their association with new-onset diabetes (NOD) in people with

INTRODUCTION The number of assays on proteomic platforms has grown rapidly. The leading platforms, SomaScan and Olink, have strengths and limitations. Comparisons of precision on the latest platforms-SomaScan 11k and Olink Explore HT-have not yet been established. METHODS Among 102 participants in the Atherosclerosis Risk in Communities Study (mean age 74 years, 53% women, 47% Black), we used split

Background Cardiac troponin I and T measured by high-sensitivity assays (hs-cTn) are detectable in most ambulatory adults. Hs-cTnI and T may perform differently for prediction of cardiovascular (CV) events. In adults with myopathies and advanced age, hs-cTnT can lose CV specificity. We undertook a meta-analysis of ambulatory studies measuring hs-cTn to determine whether hs-cTnI is a superior predictor

Background Worldwide, hypertensive disorders of pregnancy (HDP) are a leading cause of maternal and neonatal morbidity and mortality (Semin Perinatol 2009;33:130–7). This is especially true in the United States where preeclampsia is a leading cause of premature births (Hypertens Pregnancy 2016;35:510–9 and Lancet 2008;371:164–75). Moreover, this disorder is costly due to the financial burden of the

Background Cardiac myosin binding protein C (cMyC) is a novel, cardiac-specific biomarker with an early release profile after acute ischemic myocardial injury. Whether cMyC reflects chronic myocardial injury and left ventricular remodelling in the general population is unknown. The aims of the study were to test the hypotheses that cMyC concentrations are associated with cardiovascular risk factors

BACKGROUND Urea is elevated in chronic kidney disease (CKD) and end-stage renal disease (ESRD), and promotes the carbamylation of proteins, including human albumin, on multiple lysine side chains. Higher proportions of carbamylated albumin (C-Alb) have been associated with increased mortality risk in patients with ESRD. Whether C-Alb predicts mortality in patients with no or mild impairment of kidney

Background Immune response to vaccination is assessed when adequate vaccine protection is in question or immunosuppression is imminent through measurement of antibody levels, which wane as time from vaccination increases. The serologic cutoff value for adequate response is based on thresholds derived from studies in adults, and age-appropriate thresholds for children have not been established. We sought

Background Diagnosis of sepsis and timely identification of pathogens in critically ill patients remains challenging. Plasma metagenomic sequencing to detect microbial cell-free DNA (mDNA) has shown promise, but low abundance of mDNA in plasma limits sensitivity and necessitates high sequencing depth. mDNA is shorter and more fragmented than human cell-free DNA. Here, we evaluated whether combining

Background Full-length ABO haplotype sequencing is crucial for accurate genotyping, reference gene annotation, and molecular mechanism analysis of its variants. However, there is currently a deficiency of comprehensive annotation for full-length ABO haplotypes, spanning from the 5′ untranslated region (UTR) to the 3′ UTR. Methods Two sets of specimens (79 random blood donors and 47 ABO variants) were

Background Emerging evidence suggests that the ratio between cardiac troponin (cTn) I and T may provide information on the risk of adverse outcomes in individuals with cardiovascular disease. Whether the cTn I/T ratio provides prognostic insights in the general population is unknown. Methods The cTn I/T ratio was calculated in 8855 participants (43% female, median age 56 years) from the Generation

Background Promoting self-empowerment of patients and of healthy persons in contemporary health cultures shifts the imperative for initiating laboratory tests from the healthcare professionals (HCP) to the patients themselves. Content Laboratory testing requested directly by patients without interaction by HCP is called DTCT (direct-to-consumer testing). DTCT is not conducted within traditional healthcare

BACKGROUND Increasing numbers of transgender and gender-diverse individuals are seeking initiation of gender-affirming hormone therapy. This aligns an individual's physical characteristics with their gender identity and improves psychological outcomes. Physical changes, including changes to muscle mass and body fat redistribution, can alter sex-specific laboratory reference ranges. CONTENT We review

BACKGROUND Given the close relationship between cardiovascular disease (CVD) and malnutrition, we examined whether higher concentrations of high-sensitivity cardiac troponin T (hs-cTnT) and N-terminal pro-brain natriuretic peptide (NT-proBNP), which indicate CVD risk in the general population, were prospectively associated with malnutrition incidence in community-dwelling older adults without CVD.

Background Cystatin C is a long-established filtration marker which can be used to assess kidney function, but it has been sparingly used for clinical care due to creatinine’s role as the primary biomarker for kidney function assessment based on estimated glomerular filtration rate (eGFR). Content This review summarizes the evolution of cystatin C’s role in kidney disease assessment and highlights