Bambino Gesù Children's Hospital

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

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...

“I know how important it is”: A qualitative analysis of participants’ experiences in a vaccine safety study

Specialist immunization clinics can support vaccination counseling for individuals experiencing adverse events following immunization (AEFIs) and research into AEFIs. We sought to describe the experiences of participants from the Canadian Special Immunization Clinic Network COVID...

Extra-Endocrine Features in Infancy as Early Clues to MEN2B

Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer predisposition syndrome in which prognosis is strongly influenced by the stage of medullary thyroid carcinoma at diagnosis. Virtually all affected children exhibit 1 or more extra-endocrine features...

Genetic characterization of suspected hereditary melanoma in a Central Italy cohort

Approximately 5–12% of cutaneous melanomas arise in a familial context, suggesting hereditary predisposition. Our analysis aims to investigate the clinical and genetic background of melanoma patients living in the Lazio area with a personal and/or family history of melanoma or ot...

Association between candidate genes and FRAX scores in postmenopausal women

Abstract Purpose Single nucleotide polymorphisms (SNPs) have been associated with BMD and bone fracture risk. The aim of this study was to assess the possible association between FRAX scores and specific SNPs in Italian osteopenic and osteoporotic postmenopausal women. Methods We...

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation

Heterozygous carboxyl-terminal variants in the RHO guanosine triphosphatase (GTPase) CDC42 are known to cause severe autoinflammatory syndromes. Here, we identified a heterozygous amino-terminal p.T43I (Thr 43 →Ile) CDC42 variant in patients with autoinflammation and uncovered a...

Vaccination in pediatric transplantation—General recommendations. A position paper by the European Reference Network TransplantChild

Infectious diseases remain a leading cause of morbidity and mortality among pediatric transplant recipients, despite significant advances in transplantation management. Vaccination is the most effective strategy to prevent infections; however, its efficacy is hindered in solid or...