Nunziato, Marcella Luca Scaglione, Giovanni Di Maggio, Federica Nardelli, Carmela Capoluongo, Ettore Salvatore, Francesco
Published in
Clinica chimica acta; international journal of clinical chemistry
BRCA1 and BRCA2 are the most mutated genes in breast cancer. We analyzed 48 breast cancer subjects using two methods that differ in terms of number of genes investigated and strategy used (primers: Panel A - 12 genes - vs probes: Panel B - 48 genes). Both the panels and procedures identified "pathogenic" or "likely pathogenic" variants in TP53, ATM...
Fang, Miaoxian Li, Jiaxin Fang, Heng Wu, Jinlin Wu, Zheng He, Linling Deng, Jia Chen, Chunbo
Published in
Clinica chimica acta; international journal of clinical chemistry
Acute kidney injury (AKI) after total aortic arch replacement (TAAR) is frequent and associated with adverse outcomes, whereas its early detection remains a challenge. Serum cystatin C (sCysC) and urinary N-acetyl-β-D-glucosaminidase (uNAG) are clinically available renal biomarkers, but their combination for AKI detection requires more evidence. Th...
Jia, Chenlu Zhao, Dehua Li, Yanru Gao, Yanbo Zhang, Xiaoli Li, Xiaole Lv, Shubo Li, Runqing Zhu, Xinyun Liu, Suna
...
Published in
Clinica chimica acta; international journal of clinical chemistry
Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. Recent availability in treatment for DMD raised the need of early screening in our center, but newborn screening (NBS) for DMD has not been carried out in Henan Province. To determine an optimal cutoff value through the quantitative determination of the...
Lim, Chun Yee Ow Yang, Shin Markus, Corey Loh, Tze Ping
Published in
Clinica chimica acta; international journal of clinical chemistry
There is uncertainty whether increased frequency of calibrations may affect the overall analytical variability of a measurement procedure as reflected in quality control (QC) performance. In this simulation study, we examined the impact of calibration frequencies on the variability of laboratory measurements. A 5-point calibration curve was modeled...
Mathieu, Elise Duterme, Cécile Fage, David Cotton, Frédéric
Published in
Clinica chimica acta; international journal of clinical chemistry
Liquid chromatography coupled with tandem mass spectrometry (LC- MS/MS) tends to overcome other methods for therapeutic drugs monitoring (TDM) due to its very good analytical performances. Nevertheless, the lack of automation still limits its use in laboratory medicine. The Cascadion SM Clinical Analyzer (Thermo Fisher Scientific) is the first full...
Chen, Ju-Yu Chen, Guan-Yuan Ong, Hooi-Nee Lai, Mei-Ling Ho, Yi-Ju Kuo, Ching-Hua Weng, Te-I
Published in
Clinica chimica acta; international journal of clinical chemistry
Antemortem specimens are sometimes the sole sources available for forensic investigation, and samples collected in nonideal ways are inevitably employed to achieve toxicological analysis. It is essential to assess the effects of blood collection tubes on the recoveries of emerging synthetic cathinones (SC) to estimate actual drug concentrations, an...
Boone, Stephen Peacock, W Frank Wu, Alan H B Jaffe, Allan Christenson, Robert H Ettner, Frederic M Dadkhah, Shahriar
Published in
Clinica chimica acta; international journal of clinical chemistry
Sex-differences in high sensitivity troponin (hs-Tn) concentrations are well established. There is, however, limited data to guide interpretation of hs-Tn in transgender patients, particularly those receiving gender-affirming hormone therapy. Our purpose was to evaluate troponin testing in transgender patients. Transgender adults attending a routin...
Dong, Liu Li, Weijia Xu, Qianqian Gu, Jianfei Kang, Zhihua Chen, Jian Xu, Xiao Zhang, Xinju Zhang, Xiuming Jiang, Haoqin
...
Published in
Clinica chimica acta; international journal of clinical chemistry
Blood smear examination through traditional optical microscopy is the gold standard for malaria diagnosis. However, it imposes strict requirements for operational staff and its sensitivity cannot perfectly satisfy the needs of clinical requirements. More sensitive and accurate modern technologies should be applied to this field. Digital PCR (dPCR),...
Delanaye, Pierre Lanot, Antoine Bouquegneau, Antoine Warling, Xavier Radermacher, Luc Masset, Catherine Krzesinski, Jean-Marie Moranne, Olivier Cavalier, Etienne
Published in
Clinica chimica acta; international journal of clinical chemistry
In hemodialysis patients, monitoring 25-hydroxyvitamin D (25(OH)D) levels is recommended. It is however unclear if monitoring 1,25-dihydroxyvitamin D (1,25(OH)2D) levels is interesting. We repeatedly measured 1,25(OH)2D (DiaSorin Liaison analyser) and 25(OH)D (LCMS/MS) concentrations in patients newly treated by active or native vitamin D to study ...
Heidemann, Britt E Koopal, Charlotte Roeters van Lennep, Jeanine E Stroes, Erik S Riksen, Niels P Mulder, Monique T van Vark-van der Zee, Leonie C Blackhurst, Dee M Visseren, Frank L J Marais, A David
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Published in
Clinica chimica acta; international journal of clinical chemistry
To compare LDL-C concentrations using the Friedewald formula, the Martin-Hopkins formula, a direct assay and polyacrylamide gradient gel electrophoresis (PGGE) to the reference standard density gradient ultracentrifugation in patients with Familial Dysbetalipoproteinemia (FD) patients. We also compared non-HDL-cholesterol concentrations by two meth...