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.

RICTOR variants are associated with neurodevelopmental disorders.

RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.

Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa.

Sporadic Hidradenitis Suppurativa (spHS) is a multifactorial disease in which genetic predisposition is intertwined with environmental factors. Due to the still to date limited knowledge of spHS genetics, we calculated Polygenic scores (PGS) to study the genetic underpinnings that contribute to spHS within European demographic. 256 spHS patients and 1686 healthy controls were analyzed across 6 European clinical centers.

Serum metabolomics and lipoproteomics discriminate celiac disease and non-celiac gluten sensitivity patients.

Background&aims: Celiac disease (CD) and potential CD (pCD) are immune-mediated disorders triggered by the ingestion of gluten. In non-celiac gluten sensitivity (NCGS) neither allergic nor autoimmune mechanisms are involved. Relationships between NCGS and CD need to be further investigated.

Investigating a new alarming outbreak of in Tuscany (Central Italy): molecular characterization and gene typing elucidate the complex phytoplasma ecology in the vineyard agroecosystem.

(FD) is a major grapevine disease in Europe, despite the quarantine status of its causal agent [FD phytoplasma (FDp)] and the mandatory monitoring and vector control practices. As alarming FD epidemic outbreaks continue to appear in Tuscany (Central Italy), a 4-year survey was carried out in the main wine-growing areas of the region, where FD presence was investigated in both primary and secondary FDp hosts and vectors, i.e.

Genetic signatures of and expression, along with SNPs variants, unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy.

Background: Platinum chemotherapy (CT) remains the backbone of systemic therapy for patients with small-cell lung cancer (SCLC). The nucleotide excision repair (NER) pathway plays a central role in the repair of the DNA damage exerted by platinum agents. Alteration in this repair mechanism may affect patients' survival.

Radiofrequency Ablation for Unstable Ruptured Hepatocellular Carcinoma: A Case Report and Literature Review.

Spontaneous liver bleeding is a rare but life-threatening complication of hepatocellular carcinoma (HCC). The optimal management strategy for this condition remains a topic of ongoing debate. We present the case of a 74-year-old man with cirrhosis and hemorrhagic shock resulting from the spontaneous rupture of HCC.

HBV and HCV testing outcomes among marginalized communities in Italy, 2019-2024: a prospective study.

Background: The health of the marginalized populations is crucial for public health and inequalities. The World Health Organization (WHO) Global Hepatitis Report 2024 stated that over 304 million people were living with Hepatitis B Virus (HBV)/Hepatitis C Virus (HCV) infection in 2022. We performed HBV/HCV screenings among marginalized communities to reveal hidden infections and link-to-care positive participants.

Prevalence and outcomes of arthritis in pediatric IBD: A multicenter study from the Italian Society of Pediatric Gastroenterology Hepatology and Nutrition.

Background And Aims: The aim of the present study was to assess prevalence and disease outcomes of arthritis in a nationwide cohort of pediatric patients with inflammatory bowel disease (IBD).

Methods: We collected data of pediatric IBD patients experiencing arthritis from the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition IBD registry. We gathered baseline and one-year follow-up data on concomitant IBD and arthritis diagnosis.

An antibody-free bio-layer interferometry biosensor for immunoglobulin G1 detection in human serum by using molecularly imprinted polynorepinephrine.

Bio-Layer Interferometry (BLI) has emerged as a versatile technique in affinity-based biosensing, analogous to Surface Plasmon Resonance. BLI enables real-time, label-free detection, and quantification of biomolecular interactions between an immobilized receptor and an analyte in solution. The BLI sensor comprises an optical fiber with an internal reference layer at the end and an external biocompatible layer where biological receptors are immobilized and exposed to the solution.

Cationic liposomes as carriers of natural compounds from plant extract.

Lipid-based nanocarriers provide versatile platforms for the encapsulation and delivery of many different bioactive compounds to improve the solubility, stability and therapeutic efficacy of bioactive phyto-compounds. In this study, liposomes were used to load leaf extract of Coffea Arabica, which is known to be rich beneficial substances such as alkaloids, flavonoids, etc. The aim of this work is to optimize the valorization of agricultural wastes containing natural antioxidants.

Videodermoscopy as a Diagnostic Tool for Pili Trianguli and Canaliculi Syndrome.

Pili trianguli et canaliculi syndrome is a rare hair shaft disorder characterized by frizzy hair that cannot be smoothed flat. Affected hair shafts are triangular or kidney-shaped with longitudinal grooving. Diagnosis typically requires electron microscopy, which may be cost-prohibitive, or alternatively, the distinctive features of hair shafts can be identified through histological examination of cross sections, that is time-consuming.

Psychiatric disorders in children and adolescents with temporal lobe epilepsy: A narrative review.

People with epilepsy (PWE) are at higher risk of psychiatric disorders (PD), disability, and reduced quality of life than the general population, especially in childhood and adolescence and when seizures originate from the temporal lobe. Temporal Lobe Epilepsy (TLE) is the most common type of focal epilepsy and can be due to structural abnormalities, or non-lesional causes, such as genetic variants. The prevalence of PD is approximately 20%-30% in people with epilepsy in general, and from 40% up to 80% in people with TLE.

Physical Activity and Sedentary Behavior on Well-Being and Self-Rated Health of Italian Public Health Medical Residents During the COVID-19 Pandemic: The PHRASI Study.

High workloads and extended work shift greatly limit the opportunities for medical residents to adopt a healthy lifestyle by practicing regular physical exercise. Using data from the Public Health Residents' Anonymous Survey in Italy (PHRASI), this research assessed the associations between physical activity levels and sedentary behavior, well-being, and self-rated health among Italian public health residents (PHRs) during the COVID-19 pandemic. Employing a cross-sectional design, this study utilized the International Physical Activity Questionnaire, the WHO-5 Well-being Index, and the single-item self-rated health to measure physical activity, sedentary behavior, self-rated health, and well-being among PHRs.

Exploring Nurses' and Nursing Students' Attitudes Toward Coercive and Technological Measures in Mental Health: A Conceptual Framework and Study Protocol.

Background/objectives: The use of coercive measures (CMs) and security technologies (STs) in mental healthcare continues to raise ethical and practical concerns, affecting both patient and staff well-being. Mental health nurses (MHNs) and nursing students (NSs) play a key role in the decision-making process regarding these interventions. However, their attitudes, particularly toward STs, remain underexplored in Italy.

Enlightening Hidden Nursing Care in Nurse-Led Clinics and See & Treat: An Observational Multicenter Protocol Study in Italy.

The limited and inconsistent adoption and regulation of nurse-led clinics (NLCs) and "See & Treat" (S&T) services in Italy needs to be explored considering their value towards patients' outcomes acknowledged in the literature. This study aims to explore the phenomenon of hidden nursing activities (HNAs) in these settings, hypothesizing that features and activities performed in these settings are heterogeneous across the country and widely underreported or attributed to other professionals than nurses. HNAs are hypothesized to be associated with a poor work environment climate and nurses' low job satisfaction.

Bedrock-Dependent Effects of Climate Change on Terricolous Lichens Along Elevational Gradients in the Alps.

In this study, we focused on the bedrock-dependent effects of climate change on terricolous lichen communities along elevational gradients in the Alps. In particular, we contrasted between carbonatic and siliceous bedrock, hypothesizing more favourable conditions on siliceous than on carbonatic bedrock, where dryer conditions may exacerbate the effects of climate change. To test this hypothesis, we compared terricolous lichen diversity patterns between the two bedrock types in terms of (1) species richness, (2) beta-diversity, (3) proportion of cryophilous species, and (4) functional diversity, also testing the effect of the elevational gradient as a proxy for expected climate warming.

The Role of Visual Information Quantity in Fine Motor Performance.

Background/objectives: Fine motor movements are essential for daily activities, such as handwriting, and rely heavily on visual information to enhance motor complexity and minimize errors. Tracing tasks provide an ecological method for studying these movements and investigating sensorimotor processes. To date, our understanding of the influence of different quantities of visual information on fine motor control remains incomplete.

Impact of Sled-Integrated Resisted Sprint Training on Sprint and Vertical Jump Performance in Young U-14 Male Football Players.

: The aim of this study was to investigate the effects of a six-week integrated resisted sprint training (IRST) program on sprint performance and vertical jump height in a sample of U-14 male football players. This study also explored the potential benefits of incorporating variable resistive loads during pre-peak height velocity (pre-PHV) developmental stages, a period often overlooked in the training of young athletes. The IRST program alternated between heavy and light resistive sled loads to enhance sprint and jump capabilities, which are critical components of athletic performance in football.

Cell-Free Carbonic Anhydrase IX mRNA in Urine as Biomarker for Urogenital Cancers: The Relationship Between Urinary Extracellular RNA and Tumor-Cell-Associated RNA.

Circulating tumor cells and cell-free nucleic acids are novel diagnostic, prognostic and predictive tools for non-invasive and cost-effective cancer detection in liquid biopsy. Carbonic anhydrase IX (CAIX) has been proposed as a biomarker in urogenital tumors and urine sediment. Our aim was to evaluate CAIX full-length percentage (CAIX FL%) in urine-cell-free RNA (cfRNA) and its relationship with tumor-cell-associated RNA (TC-RNA).

Prevalence of Diabetes, Hypertension, and Associated of Cardiovascular Diseases: A Comparative Pre- and Post-COVID Study.

: Diabetes and hypertension are major global health challenges aggravated by COVID-19's impact on healthcare and lifestyle factors. This study aims to compare the prevalence and associated socio-demographic factors of these conditions before and after the pandemic (2019 vs. 2022).

Coronary Plaque Characteristics Assessed by Optical Coherence Tomography and Plasma Lipoprotein(a) Levels in Patients With Acute Coronary Syndrome.

Background: Lipoprotein(a) [Lp(a)] is associated with increased cardiovascular risk, but its influence on plaque characteristics at optical coherence tomography (OCT) evaluation is not fully understood.

Aims: This study seeks to explore the impact of Lp(a) levels on plaque morphology as assessed by OCT in a very high-risk subset of patients.

Methods: Consecutive patients admitted for acute coronary syndrome (ACS) and undergoing OCT-guided percutaneous coronary intervention (PCI) at a large tertiary care center between 2019 and 2022 were deemed eligible for the current analysis.

Gaslighting Experience, Psychological Health, and Well-being: The Role of Self-Compassion and Social Support.

Gaslighting is an understudied form of psychological violence aimed to reduce victims' autonomy, decision-making ability, security, and belief in their own perceptions. Although it leads to negative psychological, relational, and health consequences, few studies have examined the protective variables of this form of violence. The present study aims to analyze the role of self-compassion and social support (from family, friends, and significant others) in predicting gaslighting experiences, psychological health, and eudaimonic well-being among young Italian women.

Ganglioside GD2 Contributes to a Stem-Like Phenotype in Intrahepatic Cholangiocarcinoma.

Background & Aims: GD2, a member of the ganglioside (GS) family (sialic acid-containing glycosphingolipids), is a potential biomarker of cancer stem cells (CSC) in several tumours. However, the possible role of GD2 and its biosynthetic enzyme, GD3 synthase (GD3S), in intrahepatic cholangiocarcinoma (iCCA) has not been explored.

Methods: The stem-like subset of two iCCA cell lines was enriched by sphere culture (SPH) and compared to monolayer parental cells (MON).