NMR-based newborn urine screening for optimized detection of inherited errors of metabolism.

Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and psychological sequels or even demise. Metabolomics has emerged as an efficient and powerful tool for IEM detection in newborns, children, and adults with late onset.

Permanent artificial respiration by diaphragm pacemaker in tetraplegic children.

This is a study of two children, aged respectively 10 and 6 years, who sustained a spinal cord injury at the C1 C2, causing apnoea. After the bilateral implantation of diaphragm pacemakers and periods of conditioning, they were able to adapt to continuous and simultaneous full-time ventilatory support of both diaphragms without any sign of fatigue, for more than 24 and 11 months, respectively.