journal
https://read.qxmd.com/read/38531072/challenges-associated-with-the-effective-implementation-of-new-laboratory-tests-the-international-experience
#1
JOURNAL ARTICLE
Andrew St John, Christopher P Price, Rogier Hopstaken, Patrick McGinley, Stacy Melanson, Maurice O'Kane, Annalise E Zemlin
No abstract text is available yet for this article.
March 26, 2024: Clinical Chemistry
https://read.qxmd.com/read/38531023/a-validated-highly-sensitive-microsatellite-instability-assay-accurately-identifies-individuals-harboring-biallelic-germline-pms2-pathogenic-variants-in-constitutional-mismatch-repair-deficiency
#2
JOURNAL ARTICLE
Fátima Marín, Júlia Canet-Hermida, Vanessa Bianchi, Jiil Chung, Katharina Wimmer, William Foulkes, Vanesa Pérez-Alonso, Nerea Domínguez-Pinilla, Constantino Sábado, Felisa Vázquez-Gómez, Antonio Molinés, Victoria Fioravantti, Estela Carrasco, Lucie Stengs, Melissa Edwards, Logine Negm, Anirban Das, Melyssa Aronson, Ángela Pastor, Daniel Rueda, Luis Ignacio González-Granado, Uri Tabori, Gabriel Capellá, Marta Pineda
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic diagnosis is often hampered by the identification of mismatch repair (MMR) variants of unknown significance and difficulties in PMS2 analysis, the most frequently mutated gene in CMMRD. We present the validation of a robust functional tool for CMMRD diagnosis and the characterization of microsatellite instability (MSI) patterns in blood and tumors...
March 26, 2024: Clinical Chemistry
https://read.qxmd.com/read/38527221/comprehensive-analysis-of-pkd1-and-pkd2-by-long-read-sequencing-in-autosomal-dominant-polycystic-kidney-disease
#3
JOURNAL ARTICLE
Dechao Xu, Aiping Mao, Libao Chen, Le Wu, Yiyi Ma, Changlin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by heterogeneous variants in the PKD1 and PKD2 genes. Genetic analysis of PKD1 has been challenging due to homology with 6 PKD1 pseudogenes and high GC content. METHODS: A single-tube multiplex long-range-PCR and long-read sequencing-based assay termed "comprehensive analysis of ADPKD" (CAPKD) was developed and evaluated in 170 unrelated patients by comparing to control methods including next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification...
March 25, 2024: Clinical Chemistry
https://read.qxmd.com/read/38517460/prospective-investigation-of-optical-genome-mapping-for-prenatal-genetic-diagnosis
#4
JOURNAL ARTICLE
Min Xie, Zhao-Jing Zheng, Ying Zhou, Yu-Xin Zhang, Qiong Li, Li-Yun Tian, Juan Cao, Yan-Ting Xu, Jie Ren, Qi Yu, Shan-Shan Wu, Shu Fang, Dan-Yan Zhuang, Juan Geng, Chang-Shui Chen, Hai-Bo Li
BACKGROUND: Optical genome mapping (OGM) is a novel assay for detecting structural variants (SVs) and has been retrospectively evaluated for its performance. However, its prospective evaluation in prenatal diagnosis remains unreported. This study aimed to prospectively assess the technical concordance of OGM with standard of care (SOC) testing in prenatal diagnosis. METHODS: A prospective cohort of 204 pregnant women was enrolled in this study. Amniotic fluid samples from these women were subjected to OGM and SOC testing, which included chromosomal microarray analysis (CMA) and karyotyping (KT) in parallel...
March 22, 2024: Clinical Chemistry
https://read.qxmd.com/read/38498011/time-to-reevaluate-the-95-inclusion-criteria-for-defining-reference-intervals
#5
JOURNAL ARTICLE
Joe M El-Khoury, Tony Badrick, Elvar Theodorsson
No abstract text is available yet for this article.
March 18, 2024: Clinical Chemistry
https://read.qxmd.com/read/38489534/correction-to-lower-limits-for-reporting-high-sensitivity-cardiac-troponin-assays-and-impact-of-analytical-performance-on-patient-misclassification
#6
(no author information available yet)
No abstract text is available yet for this article.
March 15, 2024: Clinical Chemistry
https://read.qxmd.com/read/38484302/external-quality-assessment-on-molecular-tumor-profiling-with-circulating-tumor-dna-based-methodologies-routinely-used-in-clinical-pathology-within-the-coin-consortium
#7
JOURNAL ARTICLE
Paul van der Leest, Pim Rozendal, John Hinrichs, Carel J M van Noesel, Karen Zwaenepoel, Birgit Deiman, Cornelis J J Huijsmans, Ronald van Eijk, Ernst Jan M Speel, Rick J van Haastert, Marjolijn J L Ligtenberg, Ron H N van Schaik, Maurice P H M Jansen, Hendrikus J Dubbink, Wendy W de Leng, Mathie P G Leers, Menno Tamminga, Daan van den Broek, Léon C van Kempen, Ed Schuuring
BACKGROUND: Identification of tumor-derived variants in circulating tumor DNA (ctDNA) has potential as a sensitive and reliable surrogate for tumor tissue-based routine diagnostic testing. However, variations in pre(analytical) procedures affect the efficiency of ctDNA recovery. Here, an external quality assessment (EQA) was performed to determine the performance of ctDNA mutation detection work flows that are used in current diagnostic settings across laboratories within the Dutch COIN consortium (ctDNA on the road to implementation in The Netherlands)...
March 14, 2024: Clinical Chemistry
https://read.qxmd.com/read/38484135/laboratory-testing-for-endocrine-hypertension-current-and-future-perspectives
#8
JOURNAL ARTICLE
Louisiane Courcelles, Maria Stoenoiu, Vincent Haufroid, Marilucy Lopez-Sublet, Lidvine Boland, Loris Wauthier, Christophe Beauloye, Dominique Maiter, Andrzej Januszewicz, Reinhold Kreutz, Alexandre Persu, Damien Gruson
BACKGROUND: Secondary hypertension (SH) is a form of high blood pressure caused by an identifiable underlying condition. Although, it accounts for a small fraction of the overall hypertensive population, detection and management of SH is of utmost importance, because SH phenotypes carry a high cardiovascular risk and can possibly be cured by timely treatment. CONTENT: This review focuses on the endocrine causes of SH, such as primary aldosteronism, Cushing syndrome, thyroid disease, pheochromocytoma and paraganglioma, acromegaly, and rare monogenic forms...
March 14, 2024: Clinical Chemistry
https://read.qxmd.com/read/38479728/acetic-acid-enables-molecular-enumeration-of-mycobacterium-tuberculosis-from-sputum-and-eliminates-the-need-for-a-biosafety-level-3-laboratory
#9
JOURNAL ARTICLE
Ana Palekyte, Anna Morkowska, Owen Billington, Stephen Morris-Jones, James Millard, Mohlopheni J Marakalala, Olumuyiwa Owolabi, Basil Sambou, Alimuddin Zumla, Jayne S Sutherland, Timothy D McHugh, Isobella Honeyborne
BACKGROUND: Improved monitoring of Mycobacterium tuberculosis response to treatment is urgently required. We previously developed the molecular bacterial load assay (MBLA), but it is challenging to integrate into the clinical diagnostic laboratory due to a labor-intensive protocol required at biosafety level 3 (BSL-3). A modified assay was needed. METHODS: The rapid enumeration and diagnostic for tuberculosis (READ-TB) assay was developed. Acetic acid was tested and compared to 4 M guanidine thiocyanate to be simultaneously bactericidal and preserve mycobacterial RNA...
March 14, 2024: Clinical Chemistry
https://read.qxmd.com/read/38472127/plasma-biomarker-profiles-for-premature-and-nonpremature-coronary-heart-disease-in-women
#10
JOURNAL ARTICLE
Sagar B Dugani, M Vinayaga Moorthy, Olga V Demler, Chunying Li, Paul M Ridker, Robert J Glynn, Samia Mora
BACKGROUND: Premature coronary heart disease (CHD) is a major cause of death in women. We aimed to characterize biomarker profiles of women who developed CHD before and after age 65 years. METHODS: In the Women's Health Study (median follow-up 21.5 years), women were grouped by age and timing of incident CHD: baseline age <65 years with premature CHD by age 65 years (25 042 women; 447 events) and baseline age ≥65 years with nonpremature CHD (2982 women; 351 events)...
March 13, 2024: Clinical Chemistry
https://read.qxmd.com/read/38451051/evaluation-of-nanopore-sequencing-on-polar-bodies-for-routine-pre-implantation-genetic-testing-for-aneuploidy
#11
JOURNAL ARTICLE
Anna Oberle, Franziska Hanzer, Felix Kokocinski, Anna Ennemoser, Luca Carli, Enrico Vaccari, Markus Hengstschläger, Michael Feichtinger
BACKGROUND: Preimplantation genetic testing for aneuploidy (PGT-A) using polar body (PB) biopsy offers a clinical benefit by reducing the number of embryo transfers and miscarriage rates but is currently not cost-efficient. Nanopore sequencing technology opens possibilities by providing cost-efficient and fast sequencing results with uncomplicated sample preparation work flows. METHODS: In this comparative experimental study, 102 pooled PB samples (99 passing QC) from 20 patients were analyzed for aneuploidy using nanopore sequencing technology and compared with array comparative genomic hybridization (aCGH) results generated as part of the clinical routine...
March 7, 2024: Clinical Chemistry
https://read.qxmd.com/read/38451049/biological-insights-from-cell-free-dna-methylome-analysis-in-preeclampsia
#12
JOURNAL ARTICLE
Stephanie C Y Yu, Y M Dennis Lo
No abstract text is available yet for this article.
March 7, 2024: Clinical Chemistry
https://read.qxmd.com/read/38441566/using-shame-as-a-signal-to-talk-about-suicide
#13
JOURNAL ARTICLE
Jacob D Siegel, Christine J Ko
No abstract text is available yet for this article.
March 5, 2024: Clinical Chemistry
https://read.qxmd.com/read/38441310/updated-adult-human-red-blood-cell-acetylcholinesterase-activity-reference-range-with-time-modified-michel-method
#14
JOURNAL ARTICLE
Pucheng Ke, Ralph A Stidham, Marisol S Castaneto, Adrienne M Forbes, Jeremy W Lewis, Matthew D Wegner, Stephanie L Mont
No abstract text is available yet for this article.
March 5, 2024: Clinical Chemistry
https://read.qxmd.com/read/38427953/exposure-to-synthetic-psychoactive-substances-a-potential-cause-for-increased-human-hepatotoxicity-markers
#15
JOURNAL ARTICLE
Aurora Balloni, Anastasio Tini, Emilia Prospero, Francesco Paolo Busardò, Marilyn Ann Huestis, Alfredo Fabrizio Lo Faro
BACKGROUND: Approximately 30 million people worldwide consume new psychoactive substances (NPS), creating a serious public health issue due to their toxicity and potency. Drug-induced liver injury is the leading cause of liver disease, responsible for 4% of global deaths each year. CONTENT: A systematic literature search revealed 64 case reports, in vitro and in vivo studies on NPS hepatotoxicity. Maximum elevated concentrations of aspartate aminotransferase (136 to 15 632 U/L), alanine transaminase (121...
March 1, 2024: Clinical Chemistry
https://read.qxmd.com/read/38416712/adjustment-for-renal-function-improves-the-prognostic-performance-of-urinary-thromboxane-metabolites
#16
JOURNAL ARTICLE
Bruce A Barton, Shari S Kronsberg, Essa Hariri, Ramachandran S Vasan, Grace A Rade, Vanessa Xanthakis, Thomas S Kickler, Jeffrey J Rade
BACKGROUND: Systemic thromboxane A2 generation, assessed by quantifying the concentration of stable thromboxane B2 metabolites (TXB2-M) in the urine adjusted for urinary creatinine, is strongly associated with mortality risk. We sought to define optimal TXB2-M cutpoints for aspirin users and nonusers and determine if adjusting TXB2-M for estimated glomerular filtration rate (eGFR) in addition to urinary creatinine improved mortality risk assessment. METHODS: Urinary TXB2-M were measured by competitive ELISA in 1363 aspirin users and 1681 nonusers participating in the Framingham Heart Study...
February 28, 2024: Clinical Chemistry
https://read.qxmd.com/read/38416710/analytical-performance-specifications-for-input-variables-investigation-of-the-model-of-end-stage-liver-disease
#17
JOURNAL ARTICLE
Eline S Andersen, Richard Röttger, Claus L Brasen, Ivan Brandslund
BACKGROUND: Artificial intelligence models constitute specific uses of analysis results and, therefore, necessitate evaluation of analytical performance specifications (APS) for this context specifically. The Model of End-stage Liver Disease (MELD) is a clinical prediction model based on measurements of bilirubin, creatinine, and the international normalized ratio (INR). This study evaluates the propagation of error through the MELD, to inform choice of APS for the MELD input variables...
February 28, 2024: Clinical Chemistry
https://read.qxmd.com/read/38416709/mechanisms-of-resistance-to-tyrosine-kinase-inhibitors-in-ros1-fusion-positive-nonsmall-cell-lung-cancer
#18
JOURNAL ARTICLE
Xinmin Zhao, Xin Zhang, Hanlin Chen, Hairong Bao, Xianghua Wu, Huijie Wang, Hua Bao, Jiaohui Pang, Sha Wang, Jialei Wang
BACKGROUND: ROS1 fusion-positive (ROS1+) nonsmall cell lung cancer (NSCLC) patients are highly sensitive to tyrosine kinase inhibitor (TKI) treatments. However, acquired TKI resistance remains the major hurdle preventing patients from experiencing prolonged benefits. METHODS: 107 advanced or metastatic ROS1+ NSCLC patients who progressed on crizotinib and lorlatinib were recruited. Tissue and plasma samples were collected at baseline (N = 50), postcrizotinib (N = 91), and postlorlatinib (N = 21), which were all subject to the 139-gene targeted next-generation DNA sequencing...
February 28, 2024: Clinical Chemistry
https://read.qxmd.com/read/38416703/resistance-mechanisms-in-ros1-positive-lung-cancer-new-insight-into-a-rare-but-clinically-important-entity
#19
JOURNAL ARTICLE
Mitchell S von Itzstein, David E Gerber
No abstract text is available yet for this article.
February 28, 2024: Clinical Chemistry
https://read.qxmd.com/read/38385453/investigating-the-current-harmonization-status-of-tumor-markers-using-global-external-quality-assessment-programs-a-feasibility-study
#20
JOURNAL ARTICLE
Huub H van Rossum, Stefan Holdenrieder, Bart E P B Ballieux, Tony C Badrick, Yeo-Min Yun, Chuanbao Zhang, Dina Patel, Marc Thelen, Junghan Song, Nathalie Wojtalewicz, Nick Unsworth, Hubert W Vesper, Wei Cui, Lakshmi V Ramanathan, Catharine Sturgeon, Qing H Meng
BACKGROUND: The harmonization status of most tumor markers (TMs) is unknown. We report a feasibility study performed to determine whether external quality assessment (EQA) programs can be used to obtain insights into the current harmonization status of the tumor markers α-fetoprotein (AFP), prostate specific antigen (PSA), carcinoembryonic antigen (CEA), cancer antigen (CA)125, CA15-3 and CA19-9. METHODS: EQA sample results provided by 6 EQA providers (INSTAND [Germany], Korean Association of External Quality Assessment Service [KEQAS, South Korea], National Center for Clinical Laboratories [NCCL, China], United Kingdom National External Quality Assessment Service [UK NEQAS, United Kingdom], Stichting Kwaliteitsbewaking Medische Laboratoriumdiagnostiek [SKML, the Netherlands], and the Royal College of Pathologists of Australasia Quality Assurance Programs [RCPAQAP, Australia]) between 2020 and 2021 were used...
February 22, 2024: Clinical Chemistry
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