BackgroundThe recovery of diaphragmatic function is vital for successful extubation from mechanical ventilation. Recent studies have detected diaphragm atrophy in ventilated adults by using ultrasound, but no similar report has been conducted in children. In the current study, we hypothesized that mechanically ventilated children may also develop diaphragm atrophy and diaphragmatic dysfunction.Materials and methodsChildren who were admitted to the pediatric intensive care unit and were newly intubated for mechanical ventilation were enrolled into this prospective case–control study. Diaphragm ultrasound assessments were performed daily to evaluate diaphragmatic function in the enrolled children until their discharge from the pediatric intensive care unit. Diaphragm thickness and the diaphragmatic thickening fraction (DTF) were measured through these assessments.ResultsA total of 31 patients were enrolled, and overall, 1389 ultrasound assessments were performed. Immediately after intubation, the initial diaphragm thickness and DTF were measured to be 1.94 ± 0.44 mm and 25.85% ± 3.29%, respectively. In the first 24 hours of mechanical ventilation, diaphragm thickness and the DTF decreased substantially and decreased gradually thereafter. After extubation, the DTF was significantly different between the successful and failed extubation groups (P < 0.001), and a DTF value of <17% was associated with extubation failure.ConclusionsDiaphragm ultrasound is a noninvasive method for measuring diaphragmatic function in mechanically ventilated children. In this study, significant diaphragm atrophy and a decreased DTF were observed within 24 hours of mechanical ventilation. The recovery of diaphragm thickness and the DTF may be a potential predictor of successful extubation from mechanical ventilation.

The phenotype associated with ECHS1 mutations might be milder than reported earlier, compatible with prolonged survival, and also includes isolated paroxysmal exercise-induced dystonia. ECHS1 screening should be considered in patients with otherwise unexplained paroxysmal exercise-induced dystonia, in addition to those with Leigh and Leigh-like syndromes. Diet regimens and detoxifying agents represent potential therapeutic strategies. © 2016 International Parkinson and Movement Disorder Society.

ObjectivesA detailed understanding of the metabolic processes governing rapid growth in early life is still lacking. The aim of this study was to investigate the age-related metabolic changes in healthy children throughout early childhood.MethodsHealthy children from a birth cohort were enrolled in this study from birth through 4 years of age. Urinary metabolites were assessed at 6 months, and 1, 2, 3, and 4 yr of age by using 1H-nuclear magnetic resonance (NMR) spectroscopy coupled with multivariate statistical analysis including principal components analysis (PCA) and partial least-squares discriminant analysis (PLS-DA). Metabolic pathway analysis was performed using the MetPA web tool.ResultsA total of 105 urine samples from 30 healthy children were collected and analyzed. Metabolites contributing to the discrimination between age groups were identified by using supervised PLS-DA (Q2 = 0.60; R2 = 0.66). A significantly higher urinary trimethylamine N-oxide (TMAO) and betaine level was found in children aged 6 months. Urinary glycine and glutamine levels declined significantly after 6 months of age and there was a concomitant compensatory increase in urinary creatine and creatinine. Metabolic pathway analysis using MetPA revealed similar nitrogen metabolism associated energy production across all ages assessed. Pathways associated with amino acid metabolism were significantly different between infants aged 6 months and 1 year, whereas pathways associated with carbohydrate metabolism were significantly different between children at ages 2 and 3 years.ConclusionsUrine metabolomics ideally represents dynamic metabolic changes across age. Urinary metabolic profiles change significantly within the first year of life, which can potentially provide crucial information about infant nutrition and growth.