The Use of Arabic Vowels to Model the Pathological Effect of Influenza Disease by Wavelets.

Speech parameters may include perturbation measurements, spectral and cepstral modeling, and pathological effects of some diseases, like influenza, that affect the vocal tract. The verification task is a very good process to discriminate between different types of voice disorder. This study investigated the modeling of influenza's pathological effects on the speech signals of the Arabic vowels "A" and "O.

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), caused by mutated ACADM gene, is a potentially fatal fatty acid oxidation defect. Detection of MCADD is now part of tandem mass spectrometry (MS-MS)-based newborn screening programs worldwide. To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.

Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.

We describe an improved diagnostic method for tyrosinemia type 1 based on quantifying succinylacetone in dried blood spots by ultra-performance liquid chromatography tandem mass spectrometry. Succinylacetone extracted from a single 3/16 inch disk of specimen collection paper containing a dried blood spot was derivatized with dansylhydrazine, separated on an Acquity UPLC BEH C(18) column (2.1 x 50 mm, 1.

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

Molybdenum cofactor and isolated sulphite oxidase deficiencies are two related rare autosomal recessive diseases characterized by severe neurological abnormalities, dislocated lens and mental retardation. Determination of three biochemical markers S-sulphocysteine (SSC), xanthine (XAN) and hypoxanthine (HXAN) in urine is essential for a definitive diagnosis and identification of the exact defect. We developed a rapid liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the analysis of SSC, XAN and HXAN in urine.

Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of glyceric acid in urine of patients with D-glyceric and L-glyceric acidurias.

Glyceric acid is a highly polar chiral carboxylic acid that is usually not detected during routine organic acid analysis. Increased excretion is observed in two phenotypically distinct and rare inherited metabolic diseases, D-glyceric aciduria, and L-glyceric aciduria (also known as primary hyperoxaluria type 2). The determination of the exact configuration of the excreted glyceric acid is necessary for the accurate diagnosis of D-glyceric aciduria and for the differentiation between type 1 and type 2 primary hyperoxaluria.