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The Association of Vitamin D Status With Pediatric Critical Illness
TLDR
Evidence is provided that vitamin D deficiency is both common among critically ill children and associated with greater severity of critical illness and whether targeted vitamin D supplementation or rapid restoration will improve outcome.
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
TLDR
This report reports a child with severe developmental delays, abnormal myelination on brain MRI, and transient/variable elevations in lactate, methylmalonic acid, 3-hydroxyisobutyric and 3-aminoisobutyic acids, the first report to demonstrate a corresponding reduction in MMSDH enzyme activity.
High-performance liquid chromatography with peroxyoxalate chemiluminescence detection of bisphenol A migrated from polycarbonate baby bottles using 4-(4,5-diphenyl-1H-imidazol-2-yl)benzoyl chloride
TLDR
The highly sensitive and selective high-performance liquid chromatographic method with peroxyoxalate chemiluminescence detection for the determination of bisphenol A in hot water in contact with commercially available baby bottle samples was successfully applied.
UPLC-MS/MS determination of doxazosine in human plasma
TLDR
The sensitive, selective and rapid method based on ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) was successfully applied to the analysis of doxazosine in human plasma and showed satisfactory reproducibility.
Rapid liquid chromatography-tandem mass spectrometry method for quantification of ziprasidone in human plasma.
TLDR
A liquid chromatography-tandem mass spectrometry method for the determination of ziprasidone (ZIP) in human plasma showed satisfactory reproducibility with a coefficient of variation of less than 5%.
Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization.
TLDR
The HPLC method enabled us to differentiate GA1 cases from controls, regardless of the years of urine storage, and is valuable for both retrospective and prospective diagnoses of GA1.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
TLDR
Heterogeneity and variation in clinical presentations and management was observed in patients with the partial deficiency, and a need for more congruency in diagnostic, treatment and educational practices was highlighted across the province.
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders
TLDR
To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders, a database of newborns screened in the country is presented.
Dried blood spot analysis by digital microfluidics coupled to nanoelectrospray ionization mass spectrometry.
TLDR
A method to couple digital microfluidics (DMF) to nanoelectrospray ionization mass spectrometry (nESI-MS) for SA quantification in DBS samples is developed and a new feedback control system is introduced that enables high-fidelity droplet manipulation across DBS sample without manual intervention.
A digital microfluidic method for dried blood spot analysis.
TLDR
A prototype microfluidic system for quantification of amino acids in dried blood spots is developed, in which analytes are extracted, mixed with internal standards, derivatized, and reconstituted for analysis by (off-line and in-line) tandem mass spectrometry.
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