[Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].

Introduction: Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature. The levels of genes stimulated by interferon has been postulated as a good biomarker, as they remain high in peripheral blood over time and are more sensitive, in comparison to determinations of interferon alpha and neopterins in cerebrospinal fluid, which descend as of one year of life.

[Successful weaning and extubation in the premature newborn using neurally adjusted ventilatory assist].

Invasive and non-invasive ventilation of the preterm newborn may be associated with local and systemic complications due to mechanical trauma to lung tissues and their inflammatory response. A key objective of any type of mechanical ventilation, therefore, is to reduce its duration and the side effects related to it. Neurally Adjusted Ventilatory Assist (NAVA) may improve synchronization between patient and ventilator and optimize the gas volume delivered to the lungs, according to the patient needs, eventually reducing volu- and biotrauma.