Publications by authors named "U Sabatini"
Article Synopsis
- Pediatric-onset Huntington's disease (POHD) shows different symptoms than adult-onset HD (AOHD), primarily presenting with movement disorders like rigidity instead of the chorea seen in AOHD.
- Researchers sought to find specific biomarkers related to the pathophysiology of POHD by using advanced imaging techniques and comprehensive clinical assessments.
- Results indicated that POHD is characterized by more severe striatal volume loss and significant alterations in glucose metabolism across various brain regions compared to AOHD, reinforcing the idea that POHD is a distinct condition with unique biological traits.
Peculiar CADASIL phenotype in monozygotic twins carrying a novel NOTCH3 pathogenetic variant.
Eur Rev Med Pharmacol Sci
February 2024
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominantly inherited cerebral small vessel disease caused by Neurogenic locus notch homolog protein 3 (NOTCH3) gene mutations. The main clinical features include migraine with aura, recurrent ischemic strokes and dementia. Brain MRI typically shows multiple small lacunar infarcts and severe, diffuse, symmetrical white matter hyperintensities (WMHs), with characteristic involvement of the anterior temporal pole, external capsule, and superior frontal gyrus.
View Article and Find Full Text PDFBackground: Hypofractionated stereotactic radiotherapy (hFSRT) is a salvage option for recurrent glioblastoma (GB) which may synergize anti-PDL1 treatment. This phase I study evaluated the safety and the recommended phase II dose of anti-PDL1 durvalumab combined with hFSRT in patients with recurrent GB.
Methods: Patients were treated with 24 Gy, 8 Gy per fraction on days 1, 3, and 5 combined with the first 1500 mg Durvalumab dose on day 5, followed by infusions q4weeks until progression or for a maximum of 12 months.