Publications by authors named "Marcella Gherzi"
Objectives: To evaluate safety and pharmacokinetic parameters (PK) of medical cannabis in add-on for children and young adults with drug-resistant epilepsy.
Design, Setting: Ten patients (4 females, 6 males, age 2.5-23.
Monitoring of blood levels of Δ9-tetrahydrocannabinol (THC) and cannabidiol (CBD) is necessary for optimization of administration of medical cannabis. We describe the validation of a ultra-HPLC-MS/MS method for quantifying THC and CBD from plasma and decoctions and its application for therapeutic drug monitoring. Analyses were performed by using a TSQ Quantiva™ Triple Quadrupole coupled to a Ultimate 3000 UHPLC system with atmospheric pressure chemical ionization after sample preparation with a straightforward method with deuterated internal standards.
View Article and Find Full Text PDFHeterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication syndrome with usually a milder phenotype compared with the corresponding 3q29 microdeletion syndrome. The duplications described so far range from 2.3 Mb to 1.
View Article and Find Full Text PDFMutations in the ATP1A3 gene, which encodes the alpha-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation.
View Article and Find Full Text PDFArticle Synopsis
- Alternating Hemiplegia of Childhood (AHC) is a serious disorder that currently lacks fully effective treatments to prevent paroxysmal attacks, despite various medications being tried.
- A study reviewed treatments in 30 AHC patients, finding that flunarizine was the most common long-term medication, effective in reducing attack frequency and intensity in a subset of patients, especially younger ones.
- The findings highlight the need for more extensive and controlled studies to explore better treatment options and understand the disease better, noting that many other therapies used had unclear effectiveness.