Istituto Giannina Gaslini

Early Introduction and Prolonged Full‐Dose Anakinra Reduce Recurrence Risk After Discontinuation in Recurrent Pericarditis: An International Multicenter Cohort

Background Anakinra is effective in recurrent pericarditis, yet optimal treatment duration and strategies for safe drug discontinuation remain uncertain. Identifying predictors of sustained remission after discontinuation is important for clinical management. Methods We retrospec...

Microplastics and the Kidney: A Narrative Review of Human Evidence, Molecular Mechanisms of Cell Injury, and Future Directions

Microplastics (MPs) are widespread environmental contaminants, but their potential effects on kidney health remain poorly defined. As an organ continuously exposed to circulating particles and involved in their urinary elimination, the kidney may represent both a target of MP tox...

Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions

Long-term glucocorticoid therapy is standard of care for individuals with Duchenne muscular dystrophy (DMD) but often results in impaired growth and delayed or incomplete puberty, impacting their physical and psychosocial health. Although DMD endocrine care has evolved, leading t...

Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant

ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 tumor suppressor gene, encoding neurofibromin. Pathogenic variants include point mutations, exon deletions, and splicing alterations, leading to diverse clinical manifestation...

Everything you always wanted to know about sleep, but you were afraid to ask: expert concise guide and recommendations on assessing sleep-wake disturbances within a psychiatric context in contemporary times

OBJECTIVE: While disrupted sleep has long been linked to mental disorders there has been a notable decrease in interest and sleep-wake disorders have received low priority in psychiatric care. The aim of the paper was to present a concise guide for evaluating common sleep-wake di...

Adiponectin-enriched liver-derived ECM attenuates fibrogenic features of activated hepatic stellate cells in a multicellular 3D model

Abstract Background Adiponectin (ADPN), an adipocytokine expressed in multiple tissues including the liver by quiescent hepatic stellate cells (HSCs) has recognized antifibrotic properties. However, most studies rely on simplified 2D systems that fail to capture the liver microen...

Therapeutic Drug Monitoring of Antifungal Agents: Toward Harmonization of Therapeutic Ranges

Background: Invasive fungal infections are associated with high morbidity and mortality, particularly among immunocompromised and critically ill patients. Antifungal therapy is complicated by substantial pharmacokinetic variability, drug–drug interactions, and narrow therapeutic...

Sudden Unexpected Perinatal Death Due to Undiagnosed Diffuse Placental Chorioangiomatosis

Chorioangiomatosis is a rare placental vascular disorder that may lead to severe fetal compromise and, in exceptional cases, sudden perinatal death. Its prenatal diagnosis remains challenging because diffuse lesions may lack a discrete placental mass and escape routine ultrasonog...

Postpandemic Trends in Pediatric Respiratory Virus Hospitalizations: A Multicenter Study, 2019–2025

ABSTRACT Background The COVID‐19 pandemic profoundly altered the circulation of respiratory viruses in children, changing the epidemiology of acute lower respiratory tract infections. In the postpandemic period, respiratory pathogens showed marked temporal variability. The 2024–2...

Cell-type-specific mechanoadaptation to sustained hydrostatic pressure and flow in glioblastoma cells and astrocytes

Abstract Mechanical forces are increasingly recognized as regulators of cellular behavior, yet their impact on glioblastoma cells and astrocytes remains incompletely understood. Here, we investigated the effects of fluid flow and hydrostatic pressure (HP) on human glioblastoma U8...

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency

We provide a comprehensive phenotypic characterization of loss-of-function (LoF) variants in WDFY3 based on the largest cohort reported to date (n = 32). Our findings define a monogenic disorder marked by neuropsychiatric features (including autism and ADHD), mild to moderate neu...

Real-world adjunctive use of an alpha-lactalbumin/sodium butyrate Food for Special Medical Purposes in drug-resistant epilepsy: the multicentre retrospective ARMILLA study

The purpose of this study was to describe real-world adjunctive use, tolerability, and hypothesis-generating seizure and multidomain outcomes of LALBAAY, an alpha-lactalbumin/sodium butyrate Food for Special Medical Purposes (FSMP), in patients with drug-resistant epilepsy (DRE)....

A survey on the institutional practices of the use of isavuconazole in onco-hematological children, on behalf of the Infectious Working Group of AIEOP

Isavuconazole is a broad-spectrum antifungal agent approved for the treatment of invasive fungal infections (IFIs) in adults and, recently, in pediatric patients aged 1 year and older. Use in the pediatric setting remains limited, but available data indicate generally favorable s...

Selective immunoglobulin A deficiency and coeliac disease: Immune response dynamics

Abstract Objective To analyse the serological immune response in paediatric patients with selective immunoglobulin A deficiency (SIgAD) and coeliac disease (CeD), focusing on immunoglobulin G antibody dynamics after starting the gluten‐free diet (GFD). Methods Data from SIgAD pat...

Digital twins in neuroscience: A narrative review of technical challenges for child neurology

Digital twins are dynamically updated, patient-specific computational representations that integrate multidimensional data to support prediction and clinical decision-making. This narrative review examines the conceptual foundations and enabling technologies of digital twins in n...

Sphingolipid Remodeling and Extracellular Vesicle Signatures Reflect Disease Severity in Facioscapulohumeral Dystrophy Driven by Mitochondrial Dysfunction and Endoplasmic Reticulum Stress

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a progressive and heterogeneous disorder lacking reliable circulating biomarkers for disease monitoring and therapeutic response. We hypothesized that metabolic dysregulation, lipotoxicity, and endoplasmic reticulum (ER...

From questions to impact in spinal muscular atrophy - identifying community-driven research priorities through a multi-stakeholder European initiative

Abstract Background Advances in medicines have transformed the outlook for people living with spinal muscular atrophy (SMA), yet many needs remain unmet. As the scientific and clinical environment evolves, aligning research priorities with the lived experience of patients is incr...

Forensic challenges in a case of suspected filicide, matricide, and post‐mortem dismemberment

Familicide represents one of the most complex forms of domestic violence in forensic practice. Among intrafamilial homicides, filicide and matricide pose major medico-legal and criminological challenges, particularly when autopsy findings are nonspecific or severely altered by po...

Posttherapy [18F]FDOPA PET Findings in an Anaplastic Pleomorphic Xanthoastrocytoma With a BRAF V600E Mutation

Anaplastic pleomorphic xanthoastrocytoma (APXA) is a rare pediatric high-grade glioma (pHGG). We report a 10-year-old boy with a left temporal APXA harboring a BRAF V600E mutation, who presented with generalized tonic–clonic seizures 3–4 times weekly, treated with combined BRAF a...

Impact of low-dose epidural analgesia on labour progression in Robson Classification Group 1 parturients: a single-centre retrospective observational study

The influence of epidural analgesia (EA) on the course of labour is still a matter of concern in modern obstetrics. Despite numerous studies have analysed labour progression, their findings are often inconsistent with regard to the effect of labour analgesia. In fact, women with...