Publications by authors named "A S Muda"
Article Synopsis
- Large studies and specific electrophysiology techniques have helped identify various SCN2A-epilepsy phenotypes, their genetic connections, and their reactions to sodium channel blockers.
- One notable presentation of SCN2A variants is benign familial neonatal-infantile seizures (BFNIS), which typically occur within the first 23 months of life and often resolve within two years, sometimes with treatment.
- A recent case highlights a woman, originally diagnosed with BFNIS in infancy, who experienced additional seizures over 40 years later, suggesting SCN2A-related seizures may have implications in adulthood.
Purpose: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology.
Methods: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset.
Background: Respiratory syncytial virus (RSV) infection in children under 5 years have a significant clinical burden, also in primary care settings. This study investigates the epidemiology and burden of RSV in Italian children during the 2019/20 pre-pandemic winter season.
Methods: A prospective cohort study was conducted in two Italian regions.
Background: Nephritis is a common manifestation of IgA vasculitis and is morphologically indistinguishable from IgA nephropathy. While MEST-C scores are predictive of kidney outcomes in IgA nephropathy, their value in IgA vasculitis nephritis has not been investigated in large multiethnic cohorts.
Methods: Biopsies from 262 children and 99 adults with IgA vasculitis nephritis ( N =361) from 23 centers in North America, Europe, and Asia were independently scored by three pathologists.
Article Synopsis
- Diffusion-weighted imaging (DWI) is being evaluated as a first-line neuroimaging method for detecting acute ischemic stroke, but its reliability for identifying intracranial hemorrhage compared to CT and susceptibility-weighted imaging (SWI) is not fully established.
- A study analyzed 31 patients who underwent MRI for acute stroke, with two radiologists comparing DWI results against CT and SWI to assess hemorrhage detection.
- Findings showed that DWI accurately identified hyperacute bleeds, demonstrating high sensitivity and specificity, along with strong agreement between observers, suggesting DWI is a reliable tool for detecting intracranial hemorrhage.