Istituto Giannina Gaslini

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS....

The Myth of the Perfect Neonatal Transport Team

The author declares no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

Continuous Glucose Monitoring and Automated Insulin Delivery in Infants with Type 1 Diabetes: Real-World Evidence to Support Future International Guidelines

To evaluate efficacy and safety of continuous glucose monitoring (CGM) and automated insulin delivery (AID) in infants. A retrospective multicenter study (13 centers) of 76 children diagnosed with antibody-positive type 1 diabetes before age 2. Outcomes at 12 months were compared...

Cross-cultural adaptation and validation of the Localised Scleroderma Quality of Life Instrument (LoSQI): an international study

Juvenile localised scleroderma (jLS) is a rare disease which impacts negatively on health-related quality of life (HRQoL). We aimed to undertake the cross-cultural adaptation and validation of a novel disease-specific HRQoL measure, the Localised Scleroderma Quality of Life Instr...

Current Use, Monitoring and Reversal of Neuromuscular Block in Pediatric Anesthesia and Intensive Care: A Web‐Based Cross‐Sectional ESAIC Survey

BACKGROUND: Neuromuscular blocking agents are recommended by the European Society of Anaesthesiology and Intensive Care (ESAIC) and European Society of Paediatric Anaesthesia (ESPA) for facilitating tracheal intubation in children. Despite these recommendations, real-world data o...

Visceral-to-subcutaneous fat ratio is a time-stable predictor of survival and toxicity in advanced hepatocellular carcinoma

Abstract Purpose Nutritional status significantly impacts the prognosis of patients with hepatocellular carcinoma (HCC). Computed tomography (CT) has become a key tool for assessing body composition (BC), with abnormal patterns increasingly linked to reduced survival. However, BC...

Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogen

Cystic fibrosis (CF) represents the most prevalent life-threatening autosomal recessive disorder in Europe, primarily affecting the respiratory tract, exocrine pancreatic function, and lipid metabolism. Immunoreactive trypsinogen (IRT) quantification constitutes the first-tier te...

A Novel α-Globin Gene Variant: Hb Romagna [α61(E10)Lys>Gln; HBA1:c.184A>C] Co-Inherited with Hb A2-Lampang [δ47(CD6)Asp>Asn; HBD:c.142G>A] in an Italian Diabetic Woman

Background: Screening for hemoglobinopathies, particularly in Mediterranean countries, is primarily aimed at preventing beta-thalassemia. However, during such screening, numerous other Hb defects can be diagnosed, each with different clinical significance, including qualitative a...