Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.

Background: Glycogen storage disease type IXa (GSD IXa), caused by phosphorylase kinase mutations, primarily PHKA2, presents variably from mild hepatomegaly to severe liver dysfunction or isolated ketotic hypoglycemia. Its phenotypic overlap with other metabolic disorders complicates diagnosis, requiring genetic confirmation.

Methods: We retrospectively analyzed clinical, biochemical, genetic, and radiological data from patients affected by GSD IXa diagnosed at our regional metabolic disease center in Bologna (Emilia-Romagna, Italy) over recent decades and we reviewed the relevant scientific literature on the pathology.

Acute otomastoiditis in children: a scoping review on diagnosis and antibiotic regimens.

The purpose of this study was to map current literature on the management of uncomplicated acute otomastoiditis (AM) with a focus on the antibiotic regimens and the role of imaging in diagnosis and complication detection. A systematic search was conducted across electronic databases for studies published between January 1, 2000 and May 31, 2025. Eligible studies included those involving pediatric patients under 18 years of age and published in English.

High Flow Nasal Cannula and Non Invasive Ventilation for Acute Bronchiolitis in the Paediatric Wards.

Aim: Bronchiolitis is a leading cause of respiratory distress and hospital admissions in infants. While high-flow nasal cannula is effective for patients unresponsive to standard oxygen therapy, evidence regarding continuous positive airway pressure and noninvasive ventilation in the wards remains inconclusive. This review explores the feasibility and criteria for initiation, titration, and monitoring of high-flow nasal cannula, continuous positive airway pressure, and noninvasive ventilation in infants with bronchiolitis in paediatric wards.

Consumptive hypothyroidism complicating infantile hepatic hemangioma successfully treated with propranolol: a case report and literature review.

Background: Consumptive hypothyroidism (CH) is a rare paraneoplastic syndrome, caused by the overexpression in vascular tumors of type 3 deiodinase (D3), converting thyroid hormones into inactive metabolites.

Case Presentation: We report the case of a 2-months-old male infant with diffuse infantile hepatic hemangioma (IHH). Thyroid function screening detected a CH.

Risk factors associated with persistent coronary artery lesions in children with Kawasaki disease in an Italian cohort.

Kawasaki disease (KD) can be complicated-particularly during the acute phase-by coronary artery lesions (CALs). The persistence of CALs (pCALs) beyond the subacute phase increases the risk of long-term cardiovascular morbidity and life-threatening events. While several risk scores, primarily based on Asian and American populations, have been proposed to predict CALs or treatment resistance, few studies have focused on identifying risk factors for pCALs.

Granulomatous lymphocytic interstitial lung disease in common variable immune deficiency: an in-depth clinical, immunological, functional and radiological exploration with a focus on its management, challenged by chronic CMV infection.

Background: Common variable immune deficiency (CVID) is the most prevalent inborn error of immunity (IEI), marked by diverse clinical-immunological phenotypes and significant immune-dysregulation, including granulomatous lymphocytic interstitial lung disease (GLILD). GLILD is a severe manifestation of CVID, contributing to reduced life expectancy and a challenging diagnosis due to its insidious and non-specific clinical course. Current management strategies for GLILD rely on expert opinion due to a lack of randomized controlled trials (RCTs).

Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.

Background/objectives: Glycogen storage disease type IX (GSD IX) is a group of inherited metabolic disorders caused by phosphorylase kinase deficiency affecting the liver or muscle. Despite being relatively common among GSDs, GSD IX remains underexplored.

Methods: A systematic review of GSD IX was conducted per PRISMA guidelines using SCOPUS and PubMed, registered with PROSPERO.

Use of an Untrained Large Language Model for Antibiotic Prescription in Pediatric Infectious Diseases at Primary Care Settings: A Study From the Italian Society for Pediatric Infectious Diseases.

The development of artificial intelligence systems is revolutionizing many fields of medicine, but specific studies are still missing in pediatrics. In our study, we showed that an untrained free-to-use large language model provided reliable responses regarding antibiotic prescription for 13 primary-care scenarios of pediatric infections.

Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).

Background: Expanded Newborn Screening (ENS) allows the early identification of many inherited metabolic diseases (IMDs) for which timely treatment can modify the natural history. For most IMDs, diagnosis by ENS is pre-clinical. However, clinical symptoms may emerge for certain conditions before screening results become available.

Tiny patient, big challenge: pancreatic heterotopia causing ileo-ileal intussusception in an infant.

Background: Intussusception is a common cause of intestinal obstruction in children, typically occurring between 6 months and 3 years of age. While most cases are idiopathic, rare cases involve pathological lead points. Ileo-ileal intussusception is an uncommon variant, often associated with anomalies such as heterotopic pancreatic tissue.

Twenty-five years of palivizumab: a global historic review of its impact on the burden of respiratory syncytial virus disease in children.

Introduction: Respiratory syncytial virus (RSV) causes significant morbidity and mortality in young children. For 25 years, palivizumab has been the only effective pharmaceutical RSV preventive.

Areas Covered: We summarize the development and a quarter-century of real-world evidence with palivizumab.

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.

Background: RASopathies, including Noonan syndrome and related disorders, are multisystem conditions caused by mutations in various genes encoding proteins involved in the RAS/MAPK signaling pathway resulting in increased signal flow. They are clinically characterized by failure to thrive, facial dysmorphisms, congenital heart defects, lymphatic malformations, skeletal anomalies, and variable cognitive impairment, with variable prevalence in the different conditions and subtypes. Pubertal development, which affects growth and final height, is often delayed in Noonan syndrome patients, though not universally.

The first 1000 days: the price of inequalities in high and middle-income countries.

The first 1000 days of human life start from conception until the child turns 2 years of age. This is a unique period in which the foundations of a child's lifelong health are built. Disadvantaged socioeconomic circumstances and limited access to health care services can globally affect a child's health outcomes and educational and vocational potential.

Endothelial Dysfunction: Molecular Mechanisms and Therapeutic Strategies in Kawasaki Disease.

The endothelium plays a key role in regulating vascular homeostasis by responding to a large spectrum of chemical and physical stimuli. Vasculitis is a group of inflammatory conditions affecting the vascular bed, and it is known that they are strongly linked to endothelial dysfunction (ED). Kawasaki disease (KD) is one childhood systemic vasculitis, and it represents the leading cause of acquired cardiac disease in children due to coronary damage and subsequent cardiovascular (CV) morbidity and mortality.

Community-onset pediatric status epilepticus: Barriers to care and outcomes in a real-world setting.

Objective: Status epilepticus (SE) is a neurological emergency in childhood, often leading to neuronal damage and long-term outcomes. The study aims to identify barriers in the pre-hospital and in-hospital management of community-onset pediatric SE and to evaluate the effectiveness of pediatric scores on outcomes prediction.

Methods: This monocentric observational retrospective cohort study included patients treated for community-onset pediatric SE in a tertiary care hospital between 2010 and 2021.

Italian cross-cultural validation of the STRONGkids tool for pediatric nutritional evaluation.

Nutritional assessment plays a pivotal role in individual development and represents a fundamental component in the early identification of nutritional challenges and imbalances in pediatric patients. Among the validated instruments in the literature, the STRONGkids tool is the most utilized. This study aimed to undertake the translation and transcultural validation of the STRONGkids tool.

Perspectives and Challenges of Telemedicine and Artificial Intelligence in Pediatric Dermatology.

Background: Pediatric dermatology represents one of the most underserved subspecialties in pediatrics. Artificial intelligence (AI) and telemedicine have become considerable in dermatology, reaching diagnostic accuracy comparable to or exceeding that of in-person visits. This work aims to review the current state of telemedicine and AI in pediatric dermatology, suggesting potential ways to address existing issues and challenges.

Coronary Arteries Lesions in Kawasaki Disease: Risk Factors in an Italian Cohort.

: Kawasaki disease (KD) is a systemic vasculitis of medium arteries, particularly involving coronary arteries. Coronary artery lesions (CALs) is the most serious complication in the acute stage, potentially leading to ischemic cardiomyopathy, myocardial infarction and sudden death. Environmental factors and genetic background contribute to individual susceptibility to develop CALs.

Comparison between Liquid and Tablet Formulations in the Treatment of Congenital Hypothyroidism up to 3 Years of Age: The First Italian Study.

: Levothyroxine (L-T4) is available for use in congenital hypothyroidism (CH) in three formulations: tablets, drops, and oral solution. This study aims to compare the efficacy and safety of all three L-T4 formulations. : We enrolled 63 children born between January 2019 and April 2023 in the Emilia-Romagna Region (Italy) and diagnosed with CH by newborn screening.

Salbutamol safety in children under 2 years of age with acute wheezing: a meta-analysis of randomised controlled trials.

Objective: To evaluate the safety of short-term use of inhaled salbutamol in children under 2 years of age with acute wheezing.

Data Sources: Electronic databases (PubMed, Trip, MEDLINE) and the Cochrane Library were searched for studies published up to October 2022.

Study Selection: The search was restricted to randomised controlled trials published in English regarding the safety of inhaled salbutamol in wheezing children under the age of 2.

Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric emergency department use: a quasi-experimental study interrupted time-series analysis in North Italian hospitals, 2017 to 2022.

Background: The use of Non-Pharmaceutical Interventions (NPIs) during the COVID-19 pandemic is debated. Understanding the consequences these measures may have on vulnerable populations including children and adolescents is important.

Methods: This is a multicenter, quasi-experimental before-after study involving 12 hospitals of the North Italian Emilia-Romagna Region, with NPI implementation as the intervention event.

The Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study.

Introduction: Acute altered mental status (AAMS) is often a challenge for clinicians, since the underlying etiologies cannot always easily be inferred based on the patient's clinical presentation, medical history, or early examinations. The aim of this study is to evaluate the role of electroencephalogram (EEG) as a diagnostic tool in AAMS of unknown etiology in children.

Materials And Methods: We conducted a prospective study involving EEG assessments on children presenting with AAMS between May 2017 and October 2019.

Impact of Inflammatory Burden on Voriconazole Exposure in Oncohematological Pediatric Patients Receiving Antifungal Prophylaxis after Allogeneic HCT.

(1) Background: The impact of inflammation on voriconazole exposure in oncohematological pediatric patients represents a debated issue. We aimed to investigate the impact of serum C-reactive protein (CRP), procalcitonin (PCT), and interleukin-6 (IL-6) levels on voriconazole exposure in oncohematological pediatric patients requiring allogeneic hematopoietic stem cell transplantation (HCT). (2) Methods: Pediatric patients undergoing allogeneic HCT and receiving therapeutic drug monitoring (TDM)-guided voriconazole as primary antifungal prophylaxis between January 2021 and December 2023 were included.

Atypical clinical and sonographic manifestations of lymphadenopathy in a child with cat-scratch disease: A case report.

Cat-scratch disease is a well-known infection in childhood. It usually presents as tender lymphadenopathy and should be included in the differential diagnosis of any lymphadenopathy syndrome. An history of exposure to cats supports the suspect and a positive serologic test to Bartonella henselae confirms the diagnosis.