Prevalence of Complications Due to Transphyseal Hematogenous Osteomyelitis.

Background: Transphyseal hematogenous osteomyelitis (THO) is a common infectious condition, being present in 25% of patients with hematogenous osteomyelitis. A large proportion of pediatric hematogenous osteomyelitis infections can spread through the growth cartilage and therefore may be potentially responsible for growth disorders, leading to limb-length discrepancy or angular deformities. The purpose of the present study was to identify both the prevalence of complications caused by transphyseal osteomyelitis and factors influencing their occurrence.

Reduced Intra- and Extracellular Circulating Postprandial Lysosomal Acid Lipase Activity in Patients with MASLD.

Background/objectives: Low fasting blood lysosomal acid lipase (LAL) activity is associated with the pathogenesis of metabolic hepatic steatosis. We measured LAL activity in blood and plasma before and after an oral fat tolerance test (OFTT) in patients with metabolic-dysfunction-associated steatotic liver disease (MASLD).

Methods: Twenty-six controls and seventeen patients with MASLD but without diabetes were genotyped for the patatin-like phospholipase 3 (PNPLA3) rs738409 variant by RT-PCR and subjected to an OFTT, measuring LAL activity in blood and plasma with a fluorimetric method.

Ingestion of Multiple Magnets by Children: Diagnosis and Management When Ingestion is not Witnessed.

Aim: Foreign body ingestion, particularly that of magnets, is a significant issue for children aged 6 months to 3 years due to their prevalence in toys and household items. Most ingested foreign bodies pass naturally, but 10%-20% of such cases require endoscopic removal, and <1% require surgery.

Case Presentation: A 2-year-old girl presented with abdominal pain, nausea, and vomiting.

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.

Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.

Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.

Use of extracorporeal blood purification therapies in sepsis: the current paradigm, available evidence, and future perspectives.

Background: Sepsis is the result of a dysregulated immune response to infection and is associated with acute organ dysfunction. The syndrome's complexity is contingent upon the underlying pathology and individual patient characteristics, including their immune response. The involvement of multiple organs and physiological functions adds complexity, with "organ cross-talk" emerging as a pivotal pathophysiological and clinical aspect.

Gut-brain axis and neuroplasticity in health and disease: a systematic review.

The gut microbiota emerged as a potential modulator of brain connectivity in health and disease. This systematic review details current evidence on the gut-brain axis and its influence on brain connectivity. The initial set of studies included 532 papers, updated to January 2024.

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.

Intracoronary Tissue Plasminogen Activator Therapy to Treat Thrombotic Occlusion of a Giant Coronary Aneurysm in Early Kawasaki Disease.

Kawasaki Disease (KD) is a systemic vasculitis that can lead to coronary artery aneurysms (CAA) in up to 10% of treated cases, significantly increasing the risk of thrombosis and acute myocardial infarction (AMI). While thrombolytic therapy is commonly used in adult coronary syndromes, its application in pediatric KD remains poorly studied. We report a 9-month-old infant with KD and giant CAA complicated by a subocclusive thrombus in the left anterior descending artery (LAD).

is implicated in central nervous system, orofacial and maxillofacial anomalies.

Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.

Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).

Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.

Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.

Humoral and cellular immune response after mRNA SARS-CoV-2 vaccine in children on treatment for cancer: A pilot observational study.

Immunocompromised children are at risk of developing severe COVID-19 infection. We conducted a pilot prospective study to evaluate the impact of cancer treatment and stem cell transplantation on immunogenicity of two doses of BNT162b2 vaccine in pediatric patients. Humoral, B- and T-cell responses to the BNT162b2 vaccine were assessed before, after the first and the second dose in patients aged 5-12 years (n = 35) and in a group of healthy donors (HD, n = 12).

Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.

O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.

Hymenoptera venom allergy in children.

From a taxonomic point of view, Hymenoptera are subclassified into families: Apidae, including honeybees (Apis mellifera) and bumblebees (Bombus), and Vespidae, which, in turn, are divided into the subfamilies of Vespinae (wasps, including hornets, vespules, dolichovespules) and Polistinae (paper wasp). Hypersensitivity to Hymenoptera venom can be linked to immunological (IgE-mediated or non-IgE-mediated) and non-immunological mechanisms. Reactions are classified into local reactions, large local reactions, systemic reactions, toxic reactions, and unusual reactions.

Evaluating post-cardiac arrest blood pressure thresholds associated with neurologic outcome in children: Insights from the pediRES-Q database.

Background: Current Pediatric Advanced Life Support Guidelines recommend maintaining blood pressure (BP) above the 5th percentile for age following return of spontaneous circulation (ROSC) after cardiac arrest (CA). Emerging evidence suggests that targeting higher thresholds, such as the 10th or 25th percentiles, may improve neurologic outcomes. We aimed to evaluate the association between post-ROSC BP thresholds and neurologic outcome, hypothesizing that maintaining mean arterial pressure (MAP) and systolic blood pressure (SBP) above these thresholds would be associated with improved outcomes at hospital discharge.

Translation, Cross-Cultural Adaptation and Validation of the Karaduman Chewing Performance Scale for the Italian Paediatric Population.

Background: Chewing is a fundamental motor activity, but there is no specific assessment tool in Italian for paediatric rehabilitation. The Karaduman Chewing Performance Scale (KCPS) is a performance-based assessment tool that allow to classify chewing performance in childhood.

Objective: To translate, culturally adapt and assess reliability, criterion validity and cross-cultural validity of the KCPS into Italian in a paediatric population.

Prevalence, management, health-care burden, and 90-day outcomes of prolonged mechanical ventilation in the paediatric intensive care unit (LongVentKids): an international, prospective, cross-sectional cohort study.

Background: The number of children requiring prolonged mechanical ventilation (PMV) has increased with the advancement of medical care. We aimed to estimate the prevalence of PMV worldwide, document demographic and clinical characteristics of children requiring PMV in paediatric intensive care units (PICUs), and to understand variation in clinical practice and health-care burden.

Methods: This international, multicentre, cross-sectional cohort study screened participating PICUs in 28 countries for children aged >37 postgestational weeks to 17 years who had been receiving mechanical ventilation (MV; invasive or non-invasive) for at least 14 consecutive days.

Adaptive and Behavioral Profiles in Down Syndrome and Co-Occurring Autism Spectrum Disorder: A Case-Control Study.

Down syndrome (DS) is the most frequent genetic cause of intellectual disability (ID). Individuals with DS exhibit an elevated risk of other neurodevelopmental disorders, including autism spectrum disorder (ASD). The primary objective of this study was to explore the clinical characteristics of co-occurring ASD in children and adolescents with DS using a case-control approach.

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.

Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective of these guidelines was to develop clinical practice recommendations focusing on specific aspects of the kidney management of this disease.

Tumor-derived G-CSF induces an immunosuppressive microenvironment in an osteosarcoma model, reducing response to CAR.GD2 T-cells.

Sarcomas are rare, mesenchymal tumors, representing about 10-15% of all childhood cancers. GD2 is a suitable target for chimeric antigen receptor (CAR) T-cell therapy due to its overexpression in several solid tumors. In this preclinical study, we investigated the potential use of iCasp9.

Coping strategies to stressful events in adolescents with migraine.

Objective: Several studies examined stress factors in both adult and pediatric patients with migraine, but few of them have analyzed coping strategies adopted to deal with stressful events in pediatric age. In particular, some of these studies have focused on specific migraine populations or have not employed standardized instruments. Our study used a standardized tool to investigate the coping strategies adopted by patients with primary migraine in dealing with stressful events.

Machine Learning-Based Prediction Model for ICU Mortality After Continuous Renal Replacement Therapy Initiation in Children.

Background: Continuous renal replacement therapy (CRRT) is the favored renal replacement therapy in critically ill patients. Predicting clinical outcomes for CRRT patients is difficult due to population heterogeneity, varying clinical practices, and limited sample sizes.

Objective: We aimed to predict survival to ICUs and hospital discharge in children and young adults receiving CRRT using machine learning (ML) techniques.

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.