Ospedale dei Bambini Vittore Buzzi

Laminar pattern disruption in fetal incipient polymicrogyria: insights from post-mortem magnetic resonance imaging and neuropathological correlation

Abstract Background Polymicrogyria is a heterogeneous cortical malformation resulting from disruption of multiple processes of cortical development, either genetically determined or acquired. Objective To characterize early imaging and histopathological features of incipient poly...

Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogen

Cystic fibrosis (CF) represents the most prevalent life-threatening autosomal recessive disorder in Europe, primarily affecting the respiratory tract, exocrine pancreatic function, and lipid metabolism. Immunoreactive trypsinogen (IRT) quantification constitutes the first-tier te...