Retinoblastoma and beyond: pediatric orbital mass lesions.

Various space occupying lesions can arise in the orbit, ranging from developmental anomalies to malignancies, and many of the diseases occurring in children are different from the pathologies in the adult population. As the clinical presentation is frequently nonspecific, radiologic evaluation is essential for lesion detection and characterization as well as patient management. While orbital masses may in some cases involve multiple compartments, a simple compartmental approach is the key for the diagnosis on imaging studies, and MRI is the modality of choice.

Do the provisional PRINTO Enthesitis/Spondylitis-Related JIA criteria capture youth with axial spondyloarthritis?

Background: The Paediatric Rheumatology International Trials Organisation (PRINTO) recently undertook an effort to better harmonize the pediatric and adult arthritis criteria. These provisional criteria are being refined for optimal performance. We aimed to investigate differences between patients who did and did not fulfill these PRINTO criteria amongst youth diagnosed with juvenile spondyloarthritis (SpA) that met axial juvenile SpA (axJSpA) classification criteria.

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.

Usefulness of Point-of-Care Testing for Respiratory Viruses in a Pediatric Emergency Department Setting.

: Respiratory tract infections (RTIs) are a leading cause of pediatric emergency department (PED) visits, especially in children under five. These infections are primarily viral, complicating diagnosis and management. This study assesses the impact of point-of-care (POC) rapid diagnostic tests for respiratory viruses on clinical and economic outcomes in a PED setting.

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.

Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that childhood cancer survivors (CCSs) may exhibit immunological abnormalities potentially linked to an underlying IEI, along with a well-known increased risk of subsequent malignancies due to prior cancer treatments. We describe a patient with two composite heterozygous pathogenic variants in the interleukin-2-inducible T-cell kinase () gene and a history of multiple tumors, including recurrent Epstein-Barr virus (EBV)-related nodular sclerosis and Hodgkin's lymphoma (NSHL), associated with unresponsive multiple hand warts, immune thrombocytopenia, and an impaired immunological profile (CD4+ lymphocytopenia, memory B-cell deficiency, reduction in regulatory T-cells, and B-cell- and T-cell-activated profiles).

Technology Innovation for Discovering Renal Autoantibodies in Autoimmune Conditions.

Autoimmune glomerulonephritis is a homogeneous area of renal pathology with clinical relevance in terms of its numerical impact and difficulties in its treatment. Systemic lupus erythematosus/lupus nephritis and membranous nephropathy are the two most frequent autoimmune conditions with clinical relevance. They are characterized by glomerular deposition of circulating autoantibodies that recognize glomerular antigens.

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.

Congenital Tracheal Stenosis With Complete Cartilage Rings: Proposal of A Multidisciplinary and Tailored Surgical Approach.

Introduction: Congenital Tracheal Stenosis (CTS) with complete cartilaginous rings is a rare but potentially life-threatening condition in paediatric patients. Currently, the most common approach is slide tracheoplasty (ST) with sternotomy under cardiopulmonary bypass (CPB). Intending to make the procedure less invasive and consider the variety of associated conditions, we have tailored the approach to our patients, who were treated by a multidisciplinary airway team.

Long-Acting Growth Hormone Therapy in Pediatric Growth Hormone Deficiency: A Consensus Statement.

Context: Several long-acting growth hormone (LAGH) therapies have recently become available, but guidance on their usage in children with growth hormone (GH) deficiency is limited.

Methods: International experts in pediatric endocrinology were invited to join a consensus group based on their expertise in treating children with daily GH and LAGH. The group comprised 11 experts from 10 countries across the world.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Thermal measurements support a role of the ABA/LANCL1-2 hormone/receptors system in thermogenesis.

Abscisic acid (ABA) is a conserved 'stress hormone' in unicellular organisms, plants and animals. In mammals, ABA and its receptors LANCL1 and LANCL2 stimulate insulin-independent cell glucose uptake and oxidative metabolism: overexpression of LANCL1/2 increases, and their silencing conversely reduces, mitochondrial number, respiration and proton gradient dissipation in muscle cells and in brown adipocytes. We hypothesized that the ABA/LANCL hormone/receptors system could be involved in thermogenesis.

Diffusion-weighted MRI in the identification of renal parenchymal involvement in children with a first episode of febrile urinary tract infection.

Aims: This study aims to assess the diagnostic accuracy of diffusion-weighted Magnetic Resonance Imaging (DW-MRI) and determine the inter-reader agreement between two expert radiologists in detecting pyelonephritic foci during the initial episode of febrile urinary tract infection (fUTI) in children aged 0-5 years. Also, we aim to establish the correlation between clinical data and DW-MRI findings.

Methods: Children aged 0-5 years presenting with their first episode of fUTI were included in the study and underwent DW-MRI and Ultrasound (US) examinations within 72 h of admission.

The Italian Perinatal Surveillance System SPItOSS: insights from Confidential Enquiries.

Background: An effective strategy to reduce perinatal mortality requires an active surveillance system. This includes monitoring cases, organizing multidisciplinary local audits, conducting Confidential Enquiries, identifying avoidable factors, and facilitating changes in the healthcare system. In 2017, the Italian Obstetric Surveillance System launched the SPItOSS pilot Perinatal Surveillance System.

How do we transfuse children in Italy? Results of a national survey.

Background: Adherence to optimal practices in the preparation and issuance of pediatric blood components can significantly influence patient care outcomes. This study aims to examine the blood banking procedures across prominent Italian children's hospitals, with the goal of identifying both consistent and potentially divergent standards within this field.

Materials And Methods: A survey was conducted among the blood banks affiliated with the Italian Association of Pediatric Hospitals.

The central role of creatine and polyamines in fetal growth restriction.

Placental insufficiency often correlates with fetal growth restriction (FGR), a condition that has both short- and long-term effects on the health of the newborn. In our study, we analyzed placental tissue from infants with FGR and from infants classified as small for gestational age (SGA) or appropriate for gestational age (AGA), performing comprehensive analyses that included transcriptomics and metabolomics. By examining villus tissue biopsies and 3D trophoblast organoids, we identified significant metabolic changes in placentas associated with FGR.

Risk factors for proximal radial abnormalities in children with untreated chronic Monteggia fractures: a review of 142 cases.

Background: The risk factors for proximal radial abnormalities (PRA) in paediatric patients with untreated chronic Monteggia fractures (CMFs) are unclear. This multicentre study aimed to evaluate the risk factors for PRA in children with untreated CMFs.

Materials And Methods: The clinical data of 142 patients (mean age at the time of injury: 5.