MANCARDI , Margherita

Background: Around 70% of children with neurodisability (ND) present pharyngeal neuromuscular incoordination and severe gastroesophageal reflux disease (GORD). Methods: This is a pilot study with the Robotic-assisted minimally invasive total esophagogastric dissociation (TOGD). Results: We included 4 patients, 2 males and 2 females, with ND and...

The management of drug-resistant patients with focal epilepsy is often challenging. Surgery is recognised as a useful and effective treatment option. The identification of the epileptogenic zone relies on the integration of clinical, neurophysiological, and neuroimaging findings. The role of non-invasive functional neuroimaging techniques has...

Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature...

Background: Fundoplication is considered a mainstay in the treatment of gastro-esophageal reflux. However, the literature reports significant recurrences and limited data on long-term outcome. Aims: To evaluate our long-term outcomes of antireflux surgery in children and to assess the results of redo surgery. Methods: We retrospectively...

The role of MR Arterial-Spin-Labeling Cerebral Blood Flow maps (ASL-CBF) in the assessment of pediatric focal epilepsy is still debated. We aim to compare the Seizure Onset Zone (SOZ) detection rate of three methods of evaluation of ASL-CBF: 1) qualitative visual (qCBF), 2) z-score voxel-based quantitative analysis of index of asymmetry...