Publications by authors named "E Gardella"
Introduction: therapeutic equivalence has been established in the effectiveness of peripheral nerve blocks in the management of pain in the postoperative period of anterior cruciate ligament reconstruction. However, it is unknown whether this effect is modulated by the anesthesiologist's experience. The objective was to describe the effectiveness of peripheral nerve blocks during the first 24 hours of the postoperative period, considering patient characteristics and the anesthesiologist's experience.
View Article and Find Full Text PDFObjective: EEG patterns and quantitative EEG (qEEG) features have been poorly explored in monogenic epilepsies. Herein, we investigate regional differences in EEG frequency composition in patients with STXBP1 developmental and epileptic encephalopathy (STXBP1-DEE).
Methods: We conducted a retrospective study collecting electroclinical data of patients with STXBP1-DEE and two control groups of patients with DEEs of different etiologies and typically developing individuals matched for age and sex.
Article Synopsis
- Pathogenic variants in the STXBP1 gene are linked to developmental and epileptic encephalopathy (DEE), often resulting in drug-resistant epilepsy and increased mortality risk, primarily from sudden unexpected death in epilepsy (SUDEP).
- A study analyzed data from 40 individuals with STXBP1 variants who died, revealing a mortality rate of 3.2% and median age of death at 13 years; the leading causes were SUDEP (36%) and respiratory complications (33%).
- Findings highlight the importance of understanding mortality risks in STXBP1-related disorders, aiding in prognostic evaluations, genetic counseling, and the development of preventative strategies for affected families.
Objective: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.
Methods: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants.