Fructose-1,6-bisphosphatase (FBP1) deficiency is a rare inherited disease characterized by recurrent episodes of lactic acidosis and ketotic hypoglycemia. To date, no cases have been reported in the Egyptian population. This study aimed to elucidate the phenotypic and molecular spectrum of FBP1 deficiency in Egypt.

Advances in neonatal medicine have improved survival rates in neonatal intensive care units, especially for high-complexity cases like congenital diaphragmatic hernia (CDH). Despite these advances, managing respiratory failure in CDH infants remains challenging due to lung hypoplasia, respiratory insufficiency, and pulmonary hypertension. Lung-protective ventilation strategies are crucial to minimize ventilator-induced lung injury, but weaning them from invasive mechanical ventilation remains complex, and extubation failure rates are high.

Achieving early and successful extubation was a critical aspect in the respiratory management of preterm infants. This study aims to identify variables for assessment and establish a predictive model to estimate preterm infants who may experience extubation failure following invasive mechanical ventilation.

Healive is an inactivated vaccine for hepatitis A virus developed in China and was found to be well-tolerated and highly immunogenic in adults and children. It is our aim this study to compare the safety and immunogenicity of Healive® with Havrix® and live attenuated vaccines in pediatric populations.

Henoch-Schönlein purpura (HSP) is a vasculopathic disease due to lesions in blood vessels, and patients with HSP presenting with renal injury are at risk of further progression to end-stage renal disease, resulting in a severe disease burden, the pathogenesis of which is currently unclear. By integrating multi-omics data, biomarkers and signaling pathways that are specifically expressed in HSP can be screened, thus finding new perspectives for resolving the pathogenesis of HSP. The aim of this review is to explore the developmental pathways of HSP and to reveal key biomarkers and therapeutic targets. Finally, we discuss the therapeutic approaches to HSP, with the hope that these insights will drive the future development of personalized medicine and improve patient prognosis and quality of life.

Copeptin, a stable surrogate marker of arginine vasopressin, has been implicated in blood pressure regulation, but its role in pediatric hypertension remains unclear. This systematic review evaluates the association between copeptin levels and hypertension in children and adolescents. A comprehensive search was conducted in PubMed, Scopus, Web of Science, Embase, and Cochrane Library up to February 21, 2025. Additional sources, including Google Scholar and reference lists of relevant articles, were screened to ensure literature saturation. Observational studies (cohort, case-control, and cross-sectional) assessing copeptin levels in relation to blood pressure in pediatric populations (< 18 years) were included. Copeptin levels were assessed using validated biochemical methods, including enzyme-linked immunosorbent assay. The Newcastle-Ottawa Scale was used to assess the quality of included studies. Due to heterogeneity in study designs and outcome measurements, a narrative synthesis was performed. Twelve studies met the inclusion criteria, with sample sizes ranging from 25 to 351 participants. Some studies reported a significant association between higher copeptin levels and hypertension, particularly in children with obesity or metabolic disorders. However, other studies found no significant correlation. Differences in study design, sample characteristics, copeptin measurement methods, and confounding factors contributed to the heterogeneity of findings. The evidence on the association between copeptin and hypertension in children is inconclusive. While some studies support its potential role as a biomarker, inconsistencies highlight the need for standardized methodologies and longitudinal studies. Future research should explore copeptin's clinical utility in pediatric hypertension risk stratification.Systematic review registration number PROSPERO: CRD420251003190.

Metabolic-associated fatty liver disease (MAFLD) has emerged as a critical pediatric health concern, particularly among children with obesity. However, its diagnosis poses substantial challenges, especially in the use of non-invasive methods. Our goal was to construct an online nomogram for screening MAFLD in obese children.

In the last years the use of digital media devices (MD) among adolescents has increased exponentially, becoming a central component of daily life for many young. The aim of the present study is to explore the use of MD in adolescents affected by anorexia nervosa (AN), compared to healthy ones. Furthermore, we compared MD use between inpatient and outpatient adolescents with AN.

Current guidelines for managing infections in pediatric patients with cancer do not recommend routine antibiotic prophylaxis (AP). However, several aspects of AP, including the role of diagnosis, the impact of neutropenia duration, screening for resistant bacterial colonization, and antibiotic stewardship, remain a matter of debate.

Infection is a common complication of idiopathic nephrotic syndrome (INS), and early identification of severe infection can improve patient outcome.

Group A Streptococcus causes pediatric infections from mild to severe forms. Since late 2022, invasive cases have increased in Europe, possibly due to reduced post-COVID-19 immunity, more respiratory virus circulation, and emergence of virulent strains.

Birth weight (BW) is an indicator for the assessment of neonatal health. No recent studies have specifically evaluated the distribution of BW in infants born in Lombardy and no updated regional neonatal charts are available. The aim of this study is to trace region-specific BW charts (CedAP charts) for neonates born in Lombardy and to compare them with the INeS charts, specific for Italian neonates, and with the Intergrowth21st (IG21) international neonatal charts.

E-cigarettes and Heated Tobacco Products (HTPs), which emerged as "safer" alternatives to traditional cigarettes, remain easily accessible and widely misperceived as harmless, especially among adolescents. Our study aimed to assess the prevalence of e-cigarette and HTP use among Italian adolescents, and investigate underlying motivations, risk perceptions, and social influences.

Over the past year, there have been several developments in various fields of pediatric medicine. This review features essential publications that have been published in the Italian Journal of Pediatrics in 2024. Papers have been selected in the areas of allergy, cardiology, critical care, endocrinology, gastroenterology, immunology, infectious diseases, neonatology, nephrology, neurology, nutrition, palliative care, respiratory tract illnesses, and social media. The findings have been examined to identify opportunities for improving the management of the diseases.

Primary care paediatricians play a key role in the diagnosis, management, and prevention of bronchiolitis, but data on their clinical practices remain limited.

The transient Headache and Neurological Deficit with cerebrospinal fluid Lymphocytosis (HaNDL) Syndrome is a rare form of primary headache, with few cases reported in children.

This study aimed to analyze the clinical characteristics and identify predictive factors associated with small segment molded sputum plugs in pediatric patients with Mycoplasma pneumoniae pneumonia (MPP).