Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy

Age and gender-specific reference intervals for a panel of lysophosphatidylcholines estimated by tandem mass spectrometry in dried blood spots

“…A panel of LysoPCs (26:0-, 24:0-, 22:0- and 20:0-LysoPC) were analysed by the FIA-MS/MS and the LC-MS/MS methods previously standardized in our laboratory [ 18 , 19 ]. Sample extract of 10 μl each, was injected into the Xevo TQD MS/MS (Waters Corporation, Milford, MA, USA) from an ACQUITY UPLC sample manager (Waters Corporation, Milford, MA, USA), directly for the FIA-MS/MS analysis and via a UPLC BEH Phenyl 1.7 μm*2.1*50 mm column maintained at 40 °C (ACQUITY) for the LC-MS/MS analysis.…”

“…Studies have shown that VLCFA-LysoPCs, specifically C26:0-LysoPC, is elevated in patients with X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disorders like Zellweger spectrum disorders (ZSD), acyl CoA oxidase 1 (ACOX1) deficiency, multifunctional protein (HSD17B4) defect and Aicardi Goutieres Syndrome (AGS) [ [5] , [6] , [7] , [8] , [9] , [10] ]. LysoPCs are generally measured by tandem mass spectrometry using the flow injection analysis (FIA-MS/MS) or liquid chromatography-tandem mass spectrometry (LC-MS/MS) techniques for identifying these disorders [ [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] ].…”

Skin, hair and nails as pointers to neurocognitive disorders in children: our experience.

“…Imaging shows periventricular changes around the occipital horn with enhancing margins. There is mutation in the gene that makes ALDP causing abnormally high levels of Very Long Chain Fatty acids (VLCFAs) [24,25] (Figures 8-10). Mucopolysaccharidosis is a group of disorders due to defects in lysosomal enzymes involved in the breakdown of muycopolysaccharides called as glycosaminoglycans.…”

Classification and discrimination of real and fake blood based on photoacoustic spectroscopy combined with particle swarm optimized wavelet neural networks

“…Since fake blood looks like real blood from colour and morphology viewpoints, it is not easy to distinguish it by only visual inspection. For gas or liquid chromatography [ 3 , 4 ] and biochemical analysis [ 5 ], professional staff are needed to operate the instrument and analyse the detection results via professional knowledge, and the cost of these instruments is very expensive. In addition, pure spectral methods, such as near infrared spectroscopy, Raman spectroscopy, and fluorescence spectroscopy, were used to identify real and fake blood.…”