Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden.

Objective: Fenfluramine (FFA), stiripentol (STP), and cannabidiol (CBD) are approved add-on therapies for seizures in Dravet syndrome (DS). We report on the long-term safety and health care resource utilization (HCRU) of patients with DS treated with FFA under an expanded access program (EAP).

Methods: A cohort of 124 patients received FFA for a median of 2.

Convolutional neural networks for automatic MR classification of myocardial iron overload in thalassemia major patients.

Objectives: To develop a deep-learning model for supervised classification of myocardial iron overload (MIO) from magnitude T2* multi-echo MR images.

Materials And Methods: Eight hundred twenty-three cardiac magnitude T2* multi-slice, multi-echo MR images from 496 thalassemia major patients (285 females, 57%), labeled for MIO level (normal: T2* > 20 ms, moderate: 10 ≤ T2* ≤ 20 ms, severe: T2* < 10 ms), were retrospectively studied. Two 2D convolutional neural networks (CNN) developed for multi-slice (MS-HippoNet) and single-slice (SS-HippoNet) analysis were trained using 5-fold cross-validation.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

Quantitative EEG biomarkers for STXBP1-related disorders.

Objective: 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.

Association between Epicardial Adipose Tissue and Atrial Fibrillation in Patients with Transfusion-Dependent β-Thalassemia.

Modern treatments for transfusion-dependent β-thalassemia (TDβT) have allowed patients to reach high life expectancy with no iron overload. Despite survival improvement, atrial fibrillation (AF) has emerged as a relevant issue. AF pathophysiology and characteristics in TDβT are different than in the general population.

Bone densitometry in Thalassemia major: a closer look at pitfalls and operator-related errors in a 10-year follow-up population.

Purpose: Dual-energy X-ray absorptiometry (DXA) is the gold standard for measuring bone mineral density (BMD) with tolerable error rate, high precision, and excellent consistency. Our objective was to investigate the frequency and distribution of errors in a cohort of patients with Thalassemia major (TM).

Methods: We reviewed the DXA examinations of 340 patients with β-TM followed by our institution, acquired in different imaging centers between 2009 and 2019.

Liver T1 and T2 mapping in a large cohort of healthy subjects: normal ranges and correlation with age and sex.

Objective: We established normal ranges for native T1 and T2 values in the human liver using a 1.5 T whole-body imager (General Electric) and we evaluated their variation across hepatic segments and their association with age and sex.

Materials And Methods: One-hundred healthy volunteers aged 20-70 years (50% females) underwent MRI.

Cardiac Computed Tomography in Monitoring Revascularization.

The use of coronary computed tomography angiography (CCTA) in the setting of stable coronary artery disease is highly recommended for low-risk patients. High-risk patients, such as symptomatic subjects with prior revascularization, are suggested to be investigated with noninvasive functional tests or invasive coronary angiography. CCTA is not considered for these patients because of some well-known CCTA artifacts, such as blooming and motion artifacts.

The unexpected consequences of a pandemic: Crypto-finance as cultural commons.

This article provide some coordinates that help explain why cryptocurrencies have recently become mainstream, indicating their connection to precarisation and new class formations. It considers how this change has been achieved by examining the impact of ICTs (information and communications technologies) on the process of socialisation and re-signification of finance. Finally, it explores how these shifts might be related to the emergence of a peculiar form of digital and cultural commons.

[Epicardial adipose tissue: a novel cardiovascular risk factor].

Epicardial adipose tissue (EAT) has various metabolic functions aiming at heart protection. When abnormal, it is related to atherosclerotic plaque development and adverse cardiovascular outcome. Additionally, in recent years, several studies have demonstrated its role in other settings such as atrial fibrillation and heart failure with preserved ejection fraction.

Coronary Computed Tomography Angiography: Beyond Obstructive Coronary Artery Disease.

Nowadays, coronary computed tomography angiography (CCTA) has a role of paramount importance in the diagnostic algorithm of ischemic heart disease (IHD), both in stable coronary artery disease (CAD) and acute chest pain. Alongside the quantification of obstructive coronary artery disease, the recent technologic developments in CCTA provide additional relevant information that can be considered as "novel markers" for risk stratification in different settings, including ischemic heart disease, atrial fibrillation, and myocardial inflammation. These markers include: (i) epicardial adipose tissue (EAT), associated with plaque development and the occurrence of arrhythmias; (ii) late iodine enhancement (LIE), which allows the identification of myocardial fibrosis; and (iii) plaque characterization, which provides data about plaque vulnerability.

The Use of Multimodality Imaging for the Diagnosis of Myocardial Outpouchings and Invaginations: A Systematic Review.

Cardiac ventricular outpouchings and invaginations are rare structural abnormalities and usually incidental findings during cardiac imaging. A definitive diagnosis is possible through the use of multimodality imaging. A systematic review of the literature was carried out in November 2022 to identify studies regarding ventricular outpouchings and invaginations.

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).

Purpose: Heterozygous variants in PRRT2 are mostly associated with benign phenotypes, being the major genetic cause of benign familial infantile seizures (BFIS), as well as in paroxysmal disorders. We report two children from unrelated families with BFIS that evolved to encephalopathy related to status epilepticus during sleep (ESES).

Methods And Results: Two probands presented with focal motor seizures at 3 months of age, with a limited course.

Adaptive behaviour in adolescents and adults with Dravet syndrome.

Aim: To explore the feasibility of using an adaptive behaviour profile (ABP) assessment generated from a well-known measure-the Vineland Adaptive Behavior Scales, Second Edition (VABS-II)-as an instrument for outcome measures in adolescents and adults with Dravet syndrome.

Method: We administered the VABS-II to 35 adolescents and adults with Dravet syndrome (15 males; mean age 24 years, SD 8 years, range: 12-46 years) and collected epilepsy history and neurological features at the time of assessment. We conducted a cross-sectional analysis of VABS-II raw scores and performed cluster analysis to identify different subgroups.

Coronary Computed Tomography Angiography for the Assessment of Sirolimus-Eluting Resorbable Magnesium Scaffold.

Background: Little evidence to date has described the feasibility and diagnostic accuracy of coronary computed tomography angiography (CCTA) with noninvasive fractional flow reserve (CT-FFR) in coronary vessels with resorbable magnesium scaffold (RMS).

Methods: The SHERPA-MAGIC is a prospective study enrolling patients receiving RMS. The present analysis considered patients undergoing CCTA 18 months after the index procedure.

Electric Source Imaging in Presurgical Evaluation of Epilepsy: An Inter-Analyser Agreement Study.

Electric source imaging (ESI) estimates the cortical generator of the electroencephalography (EEG) signals recorded with scalp electrodes. ESI has gained increasing interest for the presurgical evaluation of patients with drug-resistant focal epilepsy. In spite of a standardised analysis pipeline, several aspects tailored to the individual patient involve subjective decisions of the expert performing the analysis, such as the selection of the analysed signals (interictal epileptiform discharges and seizures, identification of the onset epoch and time-point of the analysis).

Nothing but lung and bones: Longitudinal evolution and quantitative analysis in a case of idiopathic diffuse pulmonary ossification.

A 77-year-old Caucasian man, a former surveyor in a chemical company, underwent a chest X-ray (CXR) as a follow-up exam for a melanoma of the back, surgically removed. CXR showed interstitial thickening in both lower lobes; then, a high-resolution computed tomography of the chest (HRCT) was performed to further investigate these findings, revealing multiple small, calcified nodules with branching appearance at both lung bases. Clinical examination and exposure history were negative, except for a decrease in diffusing capacity for carbon monoxide resulting from pulmonary function tests.

Coronary Microvascular Dysfunction: PET, CMR and CT Assessment.

Microvascular dysfunction is responsible for chest pain in various kinds of patients, including those with obstructive coronary artery disease and persistent symptoms despite revascularization, or those with myocardial disease without coronary stenosis. Its diagnosis can be performed with an advanced imaging technique such as positron emission tomography, which represents the gold standard for diagnosing microvascular abnormalities. In recent years, cardiovascular magnetic resonance and cardiac computed tomography have demonstrated to be emerging modalities for microcirculation assessment.

Remote Teamwork Management of NORSE During the COVID-19 Lockdown.

New-onset refractory status epilepticus (NORSE) is rare condition, and sharing knowledge is vital in its management, based on strict collaboration between multiple specialists, continuous EEG (c-EEG) monitoring, and prompt therapy modification. The coronavirus disease 2019 (COVID-19) pandemic challenged many of these established practices because of "social distancing" measures, making it necessary to work around physical restrictions. We report a case of a 10-year-old with NORSE admitted in a pediatric intensive-care unit and monitored with c-EEG and amplitude-integrated EEG.