Publications by authors named "F Melani"
Stereo-EEG is not just a diagnostic examination but a complex methodology, requiring an accurate synthesis of many data (anatomical, clinical, neurophysiological, cognitive, metabolic, and genetic). The implantation scheme is decided based on a hypothesis (or hypotheses) of epileptogenic zone localization. Subsequently, intracerebral electrical stimulation is used to define the extent of highly functional cortical regions and to reproduce the clinical symptoms and signs associated with seizures.
View Article and Find Full Text PDFObjective: Cognitive impairment affects approximately 30% of pediatric onset Multiple Sclerosis (POMS) patients with a negative impact on everyday life. The aim of this study was to evaluate the feasibility and effectiveness of a home-based, computer-assisted training of attention in patients with POMS.
Methods: This was a randomized double-blind study.
Article Synopsis
- - This study focuses on developing new pyrazolo[1,5-a]quinazoline compounds that modify GABA receptors by incorporating oxygen or nitrogen at the 8-position.
- - The compounds were tested on defined GABA receptor types using an electrophysiological approach, identifying several promising candidates for further research based on their effects on chlorine currents.
- - Additionally, molecular modeling and statistical analysis (HCA) were used to classify the compounds according to their pharmacological effects, identifying key receptor residues that influence whether a compound acts as an agonist or antagonist.
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Am J Med Genet C Semin Med Genet
December 2024
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2-related disease, we developed a clinical questionnaire that we administered to 43 individuals from 23 distinct families carrying pathogenic variants.
View Article and Find Full Text PDFChronic inflammation contributes to a number of diseases. Therefore, control of the inflammatory response is an important therapeutic goal. To identify novel anti-inflammatory compounds, we synthesized and screened a library of 80 pyrazolo[1,5-]quinazoline compounds and related derivatives.
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