Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations in ACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened patient had dilated cardiomyopathy and anaemia at the age of two years. We report a 13 month old...

We report on three Chinese neonates with carnitine-acylcarnitine translocase deficiency. They presented within the first 48 hours of life. Two neonates were found in cardiac arrest; one of them survived after resuscitation. The third neonate suddenly developed cardiorespiratory insufficiency and succumbed eventually. The clustering of three cases in 5 years suggests that carnitine-acylcarnitine...

In many patients with deep vein thrombosis and pulmonary embolism (venous thromboembolism, VTE), biomarkers or genetic risk factors have not been identified. To discover novel plasma metabolites associated with VTE risk, we employed liquid chromatography-mass spectrometry-based untargeted metabolomics, which do not target any specific metabolites. Using the Scripps Venous Thrombosis Registry po...

OBJECTIVE The aim of the study was to compare plasma carnitine profiles in fortified human milk (HM)-fed preterm infants or formula-fed preterm infants. METHODS Plasma acylcarnitine concentrations were determined in 20 formula-fed and 18 HM-fed preterm infants (birth weights between 1000 and 2200 g) by isotope dilution ESI MS/MS technique on study days 0, 14, and 28. RESULTS Concentrations ...

BACKGROUND We evaluated plasma samples HIV-infected individuals with different phenotypic profile among five HIV-infected elite controllers and five rapid progressors after recent HIV infection and one year later and from 10 individuals subjected to antiretroviral therapy, five of whom were immunological non-responders (INR), before and after one year of antiretroviral treatment compared to 175...

the technique used to control the airflow is based on the electro-hydrodynamic actuator which is also called plasma actuator. this actuator ensures the airflow control thanks to the electric wind created by the electrical corona discharge. this ionic wind is developed at the profile surface tangential to the initial free airflow so that it has a significant effect on the boundary layer flow. th...

The relationship between peroxisomal and mitochondrial oxidation of the methyl branched fatty acids, phytanic acid and pristanic acid, was studied in normal and mutant human skin fibroblasts with established enzyme deficiencies. Tandem mass spectrometry was used for analysis of the acylcarnitine intermediates. In normal cells, 4,8-dimethylnonanoylcarnitine (C11:0) and 2,6-dimethylheptanoylcarni...

there are many evidences that human serum paraoxonase activity modifies plasma lipid profile and paraoxonase has an antiatherogenic property. non-selective beta-blockers affect plasma lipid profile too, but they have atherogenic property when patients take these drugs in long term. in this study the effect of propranolol, a non-selective beta-blocker, on paraoxonase activity was investigated. l...

The technique used to control the airflow is based on the electro-hydrodynamic actuator which is also called plasma actuator. This actuator ensures the airflow control thanks to the electric wind created by the electrical corona discharge. This ionic wind is developed at the profile surface tangential to the initial free airflow so that it has a significant effect on the boundary layer flow. Th...