journal
https://read.qxmd.com/read/38597162/ultra-performance-liquid-chromatography-tandem-mass-spectrometry-analysis-of-urinary-oligosaccharides-and-glycoamino-acids-for-the-diagnosis-of-mucopolysaccharidosis-and-glycoproteinosis
#1
JOURNAL ARTICLE
Parith Wongkittichote, Se Hyun Cho, Artis Miller, Kaitlyn King, Zackary M Herbst, Zhimei Ren, Michael H Gelb, Xinying Hong
BACKGROUND: Mucopolysaccharidosis (MPS) and glycoproteinosis are 2 groups of heterogenous lysosomal storage disorders (LSDs) caused by defective degradation of glycosaminoglycans (GAGs) and glycoproteins, respectively. Oligosaccharides and glycoamino acids have been recognized as biomarkers for MPS and glycoproteinosis. Given that both groups of LSDs have overlapping clinical features, a multiplexed assay capable of unambiguous subtyping is desired for accurate diagnosis, and potentially for severity stratification and treatment monitoring...
April 10, 2024: Clinical Chemistry
https://read.qxmd.com/read/38593193/nanopore-protein-sequencing-achieves-significant-new-milestones
#2
JOURNAL ARTICLE
Brian C Searle
No abstract text is available yet for this article.
April 9, 2024: Clinical Chemistry
https://read.qxmd.com/read/38592422/expanding-access-to-noninvasive-prenatal-diagnosis-for-monogenic-conditions-to-consanguineous-families
#3
JOURNAL ARTICLE
Britt Hanson, Joe Shaw, Nikita Povarnitsyn, Benjamin Bowns, Elizabeth Young, Amy Gerrish, Stephanie Allen, Elizabeth Scotchman, Lyn S Chitty, Natalie J Chandler
BACKGROUND: Cell-free fetal DNA exists within the maternal bloodstream during pregnancy and provides a means for noninvasive prenatal diagnosis (NIPD). Our accredited clinical service offers definitive NIPD for several autosomal recessive (AR) and X-linked conditions using relative haplotype dosage analysis (RHDO). RHDO involves next-generation sequencing (NGS) of thousands of common single nucleotide polymorphism (SNPs) surrounding the gene of interest in the parents and an affected or unaffected offspring to conduct haplotype phasing of the high- and low-risk alleles...
April 9, 2024: Clinical Chemistry
https://read.qxmd.com/read/38592369/use-of-type-5-single-nucleotide-polymorphisms-allows-noninvasive-prenatal-diagnosis-for-consanguineous-families
#4
JOURNAL ARTICLE
Erik A Sistermans
No abstract text is available yet for this article.
April 9, 2024: Clinical Chemistry
https://read.qxmd.com/read/38581343/microsatellite-instability-detection-in-cancer-a-multiplex-qpcr-approach-that-obviates-the-need-for-matching-normal-samples
#5
JOURNAL ARTICLE
Wei Chen, Yan Helen Yan, Blake Young, Alessandro Pinto, Qi Jiang, Nanjia Song, Adam Yaseen, Weijie Yao, David Yu Zhang, Jinny Xuemeng Zhang
BACKGROUND: Microsatellite instability (MSI) indicates DNA mismatch repair deficiency in certain types of cancer, such as colorectal cancer. The current gold standard technique, PCR-capillary electrophoresis (CE), requires matching normal samples and specialized instrumentation. We developed VarTrace, a rapid and low-cost quantitative PCR (qPCR) assay, to evaluate MSI using solely the tumor sample DNA, obviating the requirement for matching normal samples. METHODS: One hundred and one formalin-fixed paraffin-embedded (FFPE) tumor samples were tested using VarTrace and compared with the Promega OncoMate assay utilizing PCR-CE...
April 6, 2024: Clinical Chemistry
https://read.qxmd.com/read/38581297/belimumab-is-an-igg-lambda-therapeutic-monoclonal-antibody-with-the-potential-to-cause-misdiagnosis-of-a-monoclonal-gammopathy
#6
JOURNAL ARTICLE
Rebecca S Treger, Susan L Fink
No abstract text is available yet for this article.
April 6, 2024: Clinical Chemistry
https://read.qxmd.com/read/38565215/correction-to-resistance-mechanisms-in-ros1-positive-lung-cancer-new-insight-into-a-rare-but-clinically-important-entity
#7
(no author information available yet)
No abstract text is available yet for this article.
April 3, 2024: Clinical Chemistry
https://read.qxmd.com/read/38549041/interlaboratory-comparison-of-antibody-free-lc-ms-ms-measurements-of-c-peptide-and-insulin
#8
JOURNAL ARTICLE
Annie Moradian, Elisha Goonatilleke, Tai-Tu Lin, Maya Hatten-Beck, Michelle Emrick, Athena A Schepmoes, Thomas L Fillmore, Michael J MacCoss, Salvatore Sechi, Kimia Sobhani, Randie Little, Kuanysh Kabytaev, Jennifer E van Eyk, Wei-Jun Qian, Andrew N Hoofnagle
BACKGROUND: The enhanced precision and selectivity of liquid chromatography-tandem mass spectrometry (LC-MS/MS) makes it an attractive alternative to certain clinical immunoassays. Easily transferrable work flows could help facilitate harmonization and ensure high-quality patient care. We aimed to evaluate the interlaboratory comparability of antibody-free multiplexed insulin and C-peptide LC-MS/MS measurements. METHODS: The laboratories that comprise the Targeted Mass Spectrometry Assays for Diabetes and Obesity Research (TaMADOR) consortium verified the performance of a validated peptide-based assay (reproducibility, linearity, and lower limit of the measuring interval [LLMI])...
March 29, 2024: Clinical Chemistry
https://read.qxmd.com/read/38549034/biological-testing-and-interpretation-of-laboratory-results-associated-with-detecting-newborns-with-substance-exposure
#9
JOURNAL ARTICLE
Gwendolyn A McMillin, Anna W Morad, Jessica M Boyd, Kamisha L Johnson-Davis, Torri D Metz, Marcela C Smid, Matthew D Krasowski
BACKGROUND: Substance use during pregnancy is common, as is biological testing that is intended to help identify prenatal exposures. However, there is no standardized requirement for biological testing with either maternal or newborn specimens, nor is there standardization related to when testing occurs, how frequently testing occurs, what specimen(s) to test, what substances to test for, or how to perform testing. CONTENT: We review common specimen types tested to detect maternal and newborn substance exposure with a focus on urine, meconium, and umbilical cord tissue...
March 29, 2024: Clinical Chemistry
https://read.qxmd.com/read/38531072/challenges-associated-with-the-effective-implementation-of-new-laboratory-tests-the-international-experience
#10
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
#11
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
#12
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
#13
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
#14
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
#15
(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
#16
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
#17
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
#18
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
#19
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
#20
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
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