Inv22 was detected in 17 out of the 79 samples. Additionally, CN-qPCR achieved clear separation for 10 female carriers and 10 non-Inv22 females, suggesting the assay may also be useful for molecular diagnosis of female carriers. CONCLUSIONS This new CN-qPCR method may provide a convenient and accurate F8 Inv22 test suitable for clinical use. © American Association for Clinical Chemistry 2020. All rights reserved. For permissions, please email [email protected] Point-of-care (POC) measurement of glucose is currently recommended only for the monitoring of gestational diabetes mellitus (GDM). This prospective observational study evaluated the use of POC measurements of maternal glucose to diagnose GDM in women being screened selectively with a 1-step 75 g oral glucose tolerance test (OGTT). METHODS The strictest preanalytic and analytic international laboratory standards were applied to measure maternal plasma glucose at fasting and at 1 and 2 h post glucose load. The recent International Association of Diabetes and Pregnancy Study Groups diagnostic criteria were used. At the same time, maternal capillary glucose was measured. Because of differences in plasma and capillary glucose measurements, regression analysis of POC capillary glucose results vs laboratory plasma glucose results was conducted. The regression equations for plasma glucose were derived in a derivation cohort (n = 102). These equations were applied in the validation cohort (n = 100). Predicted and actual plasma glucose values were compared. RESULTS Of the 202 women screened, 36.6% were nulliparous, 56.4% were obese, and 81.2% were Irish-born. Two thirds had a single risk factor for GDM, and a third had multiple risk factors. Selleckchem Quizartinib Based on the plasma measurements, 53.5% had GDM. As a predictor of GDM, the diagnostic accuracy of POC measurement was 83.0% (95% confidence interval, 74.2-89.8). CONCLUSIONS In high-resource settings where measures to inhibit glycolysis are implemented, the use of POC measurements for the diagnosis of GDM is not justified based on this study. In low- and medium-resource settings, where measures to inhibit glycolysis are not achievable, regression analysis using POC measurements may be acceptable compared with plasma samples subject to glycolysis. © American Association for Clinical Chemistry 2020. All rights reserved. For permissions, please email [email protected] Identifying patients with high-grade serous ovarian cancer (HGSOC) who will respond to treatment remains a clinical challenge. We focused on miR-622, a miRNA involved in the homologous recombination repair (HRR) pathway, and we assessed its predictive value in serum prior to first-line chemotherapy and at relapse. METHODS Serum miR-622 expression was assessed in serum prior to first-line platinum-based chemotherapy in a prospective multicenter study (miRNA Serum Analysis, miRSA, NCT01391351) and a retrospective cohort (Biological Resource Center, BRC), and was also studied at relapse. Progression-free survival (PFS) and overall survival (OS) were used as primary and secondary endpoints prior to first-line chemotherapy and OS as a primary endpoint at relapse. RESULTS The group with high serum miR-622 expression was associated with a significantly lower PFS (15.4 versus 24.4 months; adjusted HR 2.11, 95% CI 1.2 3.8, P = 0.015) and OS (29.7 versus 40.6 months; adjusted HR 7.68, 95% CI 2.2-26.2, P = 0.0011) in the miRSA cohort. In the BRC cohort, a high expression of miR-622 was also associated with a significantly lower OS (22.8 versus 35.9 months; adjusted HR 1.98, 95% CI 1.1-3.6, P = 0.026). At relapse, high serum miR-622 was associated with a significantly lower OS (7.9 versus 20.6 months; adjusted HR 3.15, 95% CI 1.4-7.2, P = 0.0062). Serum miR-622 expression is a predictive independent biomarker of response to platinum-based chemotherapy for newly diagnosed and recurrent HGSOC. CONCLUSIONS These results may open new perspectives for HGSOC patient stratification and monitoring of resistance to platinum-based and poly(ADP-ribose)-polymerase-inhibitor-maintenance therapies, facilitating better and personalized treatment decisions. © American Association for Clinical Chemistry 2020.Immunoaffinity-mass spectrometry (IA-MS) is an emerging analytical genre with several advantages for profiling and determination of protein biomarkers. Because IA-MS combines affinity capture, analogous to ligand binding assays (LBAs), with mass spectrometry (MS) detection, this platform is often described using the term hybrid methods. The purpose of this report is to provide an overview of the principles of IA-MS and to demonstrate, through application, the unique power and potential of this technology. By combining target immunoaffinity enrichment with the use of stable isotope-labeled internal standards and MS detection, IA-MS achieves high sensitivity while providing unparalleled specificity for the quantification of protein biomarkers in fluids and tissues. In recent years, significant uptake of IA-MS has occurred in the pharmaceutical industry, particularly in the early stages of clinical development, enabling biomarker measurement previously considered unattainable. By comparison, IA-MS adoption by CLIA laboratories has occurred more slowly. Current barriers to IA-MS use and opportunities for expanded adoption are discussed. The path forward involves identifying applications for which IA-MS is the best option compared with LBA or MS technologies alone. IA-MS will continue to benefit from advances in reagent generation, more sensitive and higher throughput MS technologies, and continued growth in use by the broader analytical community. Collectively, the pursuit of these opportunities will secure expanded long-term use of IA-MS for clinical applications. © American Association for Clinical Chemistry 2020.Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction.