Cystic Fibrosis (CF) is a multisystem disorder caused by mutations in the gene for the CF transmembrane conductance regulator (CFTR), which encodes an ion channel protein, with more than 2000 mutations identified to date. A diagnosis of CF initially relied on phenotype, with clinical recognition of characteristic signs and symptoms. Continue reading →
In unconjugated hyperbilirubinemia, the ultimate goal is the prevention of kernicterus and its potentially devastating effects.
Phototherapy represented an important advance in the treatment of jaundice, enabling the effective and relatively rapid reduction of high bilirubin levels and facilitating the prevention of kernicterus.
Exchange transfusion is the only alternative to phototherapy for controlling hyperbilirubinaemia. Continue reading →
Necrotizing enterocolitis is among the most common and devastating diseases in neonates. The excessive inflammatory process initiated in the highly immunoreactive intestine in necrotizing enterocolitis extends the effects of the disease systemically, affecting distant organs such as the brain and placing affected infants at substantially increased risk for neurodevelopmental delays. Continue reading →