Publications by authors named "S Santarelli"

Article Synopsis
  • Loss-of-function mutations in the CHD8 gene are linked to Autism Spectrum Disorders (ASD), leading to significant molecular and cellular changes relevant for developing new therapies.
  • Synthetic SINEUP-CHD8, a type of long non-coding RNA, can increase the production of the CHD8 protein in cells lacking it, and reverse associated negative effects in cells from patients with CHD8 mutations.
  • In zebrafish models, SINEUP-CHD8 not only alleviated symptoms caused by CHD8 suppression, like macrocephaly and excessive neuron production, but also suggests potential for RNA-based treatments for various neurodevelopmental disorders.
View Article and Find Full Text PDF

This study aimed to evaluate post - prandial glucose response (PPGR) after a traditional Italian breakfast and an alternative meal in children with type 1 diabetes (T1D). Preliminary findings showed that by replacing a small portion ofcarbohydrates with fats helpsimprovingPPGR after breakfast in children with T1D.

View Article and Find Full Text PDF

This narrative review aims to describe the current status of contrast-enhanced ultrasound (CEUS) in characterizing renal cystic lesion. The imaging techniques usually performed for their evaluation are ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI) with different criteria of application based on the individual case and the purpose of the examination. Generally, US, as a non-ionizing examination, is the first imaging modality performed and therefore the one that incidentally detects cystic lesions.

View Article and Find Full Text PDF