Development, validation, and clinical application of an FIA‐MS/MS method for the quantification of lysophosphatidylcholines in dried blood spots

Abstract

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Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Research into new procedures and technologies for ENBS not detected through MS/MS has been the subject of at least five studies since 2020: a report on an artificial intelligence (AI) disease model to identify IEMs and decrease the occurrence of false negatives and false positives [ 481 ]; a study that develops artificially intelligent disease risk prediction models for quickly, accurately, and with minimal false-positive rates interpreting tandem mass spectrometry data [ 482 ]; a report of increased sensitivity and fewer false-positive screens for carnitine-acylcarnitine translocase NBS by using acylcarnitine ratio indices [ 483 ]; a pilot study of a commercial assay using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to screen for SMA [ 484 ]; and studies of NBS for ALD using FIA-MS/MS [ 485 , 486 ] and LC MS/MS [ 487 ] to detect lysophosphatidylcholines and acylcarnitines. Other published NBS studies include optimizing the PKU cutoff value in Xinjiang Uygur Autonomous Region based on sampling time [ 488 ], obtaining the birth prevalence of tetrahydrobiopterin deficiency in China using NBS data [ 489 ], improving the sensitivity NBS for CAH by including second-tier steroid profiling and liquid chromatography–tandem mass spectrometry (LC-MS/MS) in Shanghai [ 490 ], optimizing delivery and storage conditions to effectively reduce the degradation of certain amino acids and carnitine in DBS to improve assay accuracy and reliability [ 491 ], and the clinical features and outcomes of 31 children with CH missed by neonatal screening in Guangzhou [ 492 ].…”

Targeted lipidomics data of COVID-19 patients

“…The lipidomic characterization of sera was performed employing the standardized protocols of the MxP Quant 500 kit (Biocrates Life Sciences Innsbruck, Austria) coupled with MS analysis [9] . Blanks, seven calibration standards, three levels of quality control samples (human-based QCs), and patients’ sera were processed, run, and analyzed by direct flow injection analysis–tandem mass spectrometry (FIA-MS/MS) in the MRM mode to target and quantify analytes from the different available lipid classes [10] . The MS platform used was composed by a SCIEX 5500+ QTRAP (AB Sciex, Framingham, MA, USA) mass spectrometer coupled with a 1260 Infinity II HPLC (Agilent Technologies, Santa Clara, CA, USA).…”