Neurological involvement in children with familial Mediterranean fever: a systematic review.

Background: Although typical findings of familial Mediterranean fever (FMF), such as brief fever episodes and abdominal or chest pain, have been largely described, little is known about the neurological manifestations of the disease in childhood.

Methods: A systematic search of the literature was conducted in PubMed/Medline, Cochrane, and Web of Science databases in accordance with the PRISMA guidelines, using MeSH terms related to FMF and neurological manifestations. Studies involving patients under 18 years of age diagnosed with FMF with neurological manifestations were included.

Obesity‑related kidney disease: a review on ultrasound applications.

Pediatric obesity is a growing global health concern, associated with metabolic, cardiovascular, and kidney complications. Early identification and intervention are crucial to preventing long-term morbidity. This review examines the epidemiology, pathophysiology, and clinical implications of childhood obesity, focusing on its impact on kidney health.

Three Decades of Managing Pediatric Obstructive Sleep Apnea Syndrome: What's Old, What's New.

Obstructive sleep apnea syndrome (OSAS) in children and adolescents is a prevalent and multifactorial disorder associated with significant short- and long-term health consequences. While adenotonsillectomy (AT) remains the first-line treatment, a substantial proportion of patients-especially those with obesity, craniofacial anomalies, or comorbid conditions-exhibit persistent or recurrent symptoms, underscoring the need for individualized and multimodal approaches. This review provides an updated and comprehensive overview of current and emerging treatments for pediatric OSAS, with a focus on both surgical and non-surgical options, including pharmacological, orthodontic, and myofunctional therapies.

The Impact of Physical Activity on Clinical Outcomes in Children with Cystic Fibrosis: A Narrative Review.

Background: Cystic fibrosis (CF) is a chronic genetic disease marked by progressive lung function decline and increased respiratory infections. Emerging evidence supports the role of physical exercise in improving lung function, aerobic capacity, and quality of life in pediatric CF patients.

Methods: We reviewed randomized clinical trials and observational studies from the last ten years, sourced from PubMed and Google Scholar.

From Infection to Autoimmunity: as a Model Pathogen.

Group A β-hemolytic Streptococcus (GAS) is a Gram-positive, coccoid-shaped bacterium that tends to grow in chains; it is a non-spore-forming, facultatively anaerobic, catalase-negative, aerobic bacterium. It is known to cause a wide range of infections in children, ranging from mild upper respiratory tract infections, such as pharyngitis, to severe invasive disease. GAS also notably triggers post-infectious immune sequelae, including acute poststreptococcal glomerulonephritis (APSGN), acute rheumatic fever (ARF), and rheumatic heart disease (RHD), which are major health burdens, especially in low-income countries.

Biomarkers in juvenile idiopathic arthritis: towards precision diagnosis and personalized therapy?

Purpose To Review: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in children, characterized by persistent joint inflammation with heterogeneous clinical subtypes. Early diagnosis and targeted treatment remain critical to improving long-term outcomes. In recent years, research has increasingly focused on the identification and validation of biomarkers to enhance diagnostic precision, predict disease course, and guide therapeutic decisions.

Pediatric ultrasound on YouTube: a multicenter quality assessment and ten practical recommendations.

Background: Digital communication is increasingly influencing the way medical knowledge is accessed and shared, particularly in pediatrics. Among various platforms, YouTube has emerged as a major source of health-related information, not only for healthcare professionals but also for the general population. However, the open nature of social media raises concerns about the consistency, reliability, and educational quality of the content shared.

MC4-R variant confirms its association with obesity during progression from childhood to adolescence.

The rs12970134 variant near the melanocortin receptor 4 (MC4-R) has gained relevance suggesting an age dependent phenotypic effect in the induction of obesity in young age. A previous study evaluating 740 Caucasian children has shown this association in prepubertal children older than 8 years. The aim of this study was to assess whether the obesogenic effect of M4CR gene contributed to obesity also in adolescence.

Fat, flames and ultrasounds: the effects of obesity on pediatric joint inflammation.

The association between childhood obesity and the early appearance of joint degeneration, particularly in the infrapatellar "Hoffa's" fat pad, highlights the importance of early diagnosis and treatment. The purpose of this review is to describe the role of ultrasound imaging as a first-line imaging tool for the early detection, prevention, and follow-up of degenerative structural changes in children's joints. By combining ultrasound findings with clinical assessments and indices, healthcare providers can gain a more comprehensive understanding of obesity-related joint alterations.

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.

Background: Hypophosphatasia (HPP) is a rare inherited disorder characterized by a deficiency of tissue-non-specific alkaline phosphatase (TNSALP) due to loss-of-function variants of the ALPL gene. HPP is characterized by an extremely variable age of onset and clinical presentation, largely depending on the type of genetic disruption. Childhood HPP commonly presents with skeletal deformities, bone fragility, precocious tooth loss, muscle weakness and sometimes neurological implications.

Risk and Protective Factors for Obstructive Sleep Apnea Syndrome Throughout Lifespan: From Pregnancy to Adolescence.

Background: Obstructive sleep apnea syndrome (OSAS) in children is indeed a significant and often underdiagnosed condition. The risk factors for OSAS vary across different stages of life.

Objectives: Identifying risk factors early can help in taking preventive measures to reduce the likelihood of developing OSAS, and different life stages may require different interventions.

Pediatric rheumatology on social media: experts ensure accuracy, public drives engagement - a comparative analysis.

We aimed to investigate the quality and characteristics of content related to pediatric rheumatology on social media, comparing posts by health professionals (HPs) and non-HP (NHPs). Content creators, engagement metrics, sentiment, and misinformation were evaluated in the 150 most popular posts from 18 hashtags related to pediatric rheumatology on Facebook, Instagram, and TikTok. The Journal of American Medical Association Benchmark Scale (JAMA) and the Patient Education Materials Assessment Tool for Audiovisual Materials (PEMAT-A/V) were used to assess quality, understandability and actionability in educational videos, respectively.

Applications of basophil activation test in paediatric allergic diseases.

Basophilic granulocytes, containing and releasing histamine after a specific allergy stimulation, are directly involved in IgE-mediated allergic reactions. CD63 is a transmembrane protein of secretory lysosomes of basophils and its upregulation is related with the release of histamine to the extracellular space during IgE-mediated allergic reactions. Basophil activation test (BAT) measures the activation of circulating basophils upon the stimulation of living blood cells with specific allergens.

Amyloidosis in Childhood: A Review of Clinical Features and Comparison with Adult Forms.

Amyloidosis is a rare multisystem disorder characterized by extracellular accumulation of insoluble fibrils in various organs and tissues. The most common subtype in the pediatric population is systemic reactive amyloidosis, typically developing secondary to chronic inflammatory conditions and resulting in deposition of serum amyloid A protein in association with apolipoprotein HDL3. Clinical presentation is highly variable and is mostly influenced by specific organs involved, precursor protein type, and extent of amyloid deposition, often closely reflecting clinical features of the underlying disease.

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development, with variable degrees of severity and heterogeneous clinical features. They include intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), often coexisting with epilepsy, extra-neurological comorbidities, and multisystemic involvement. In recent years, next-generation sequencing (NGS) technologies allowed the identification of several gene pathogenic variants etiologically related to these disorders in a large cohort of affected children.

How social media are changing pediatricians and pediatrics? - A claim for regulation.

Background: Social media has revolutionized the way healthcare professionals communicate with the public, particularly in Pediatrics. With over 5 billion users globally, platforms such as Facebook, Instagram, and TikTok have become increasingly popular even among caregivers in recent years. These channels offer unique opportunities to improve public health education, allowing pediatricians to reach a wide audience with evidence-based content.

Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.

Introduction: Although familial Mediterranean fever (FMF) is a relevant disease in countries surrounding the Mediterranean Sea, there are still few reports from Italy.

Methods: We retrospectively evaluated patients with FMF diagnosed according to the EuroFever/PRINTO classification criteria in three pediatric rheumatology referral centers in central-southern Italy. Logistic regression analysis assessed the associations between age at disease onset and symptoms.

Serum hepcidin evaluation as a promising biomarker in juvenile idiopathic arthritis.

Objectives: An important area of research in juvenile idiopathic arthritis (JIA) aims to identify sensitive and reliable biomarkers of disease activity. The key iron-regulatory hormone hepcidin-25 (HEP) has been advocated as a potential biomarker to assess anaemia of chronic disease and iron deficiency in adults with rheumatoid arthritis.

Methods: We performed a cross-sectional study evaluating the utility of serum HEP in 79 non-systemic onset JIA patients (14 males, 65 females), with/without anaemia, determining its correlations with disease activity, assessed by the JIA Disease Activity Score (JADAS)-27, anaemia parameters, and iron status indices.

Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey.

Background: Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF).

Methods: Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.

The Diagnostic Role of Skin Manifestations in Rheumatic Diseases in Children: A Critical Review of Paediatric Vasculitis.

Skin lesions are frequently observed in children with rheumatic diseases, particularly in conditions such as IgA vasculitis (IgAV) and Kawasaki disease (KD). In paediatric vasculitis, the presence of skin lesions serves as an early indicator, emphasising the importance of timely diagnosis to prevent complications, such as cardiac or renal involvement. Conversely, autoinflammatory disorders like juvenile systemic lupus erythematosus (SLE) and juvenile dermatomyositis (DM) may manifest with cutaneous manifestations either at the onset of disease or during its progression.

Skeletal muscle as a pro- and anti-inflammatory tissue: insights from children to adults and ultrasound findings.

Previously regarded as a movement and posture control agent, the skeletal muscle is now recognized as an endocrine organ that may affect systemic inflammation and metabolic health. The discovery of myokines such as IL-6, released from skeletal muscle in response to physical exercise, is now one of the most recent insights. Myokines are the mediators of the balance between the pro-inflammatory and anti-inflammatory responses.

Associations of C reactive protein to albumin ratio, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio with disease activity in patients with juvenile idiopathic arthritis.

Introduction: Recent works in the scientific literature reported the role of C reactive protein to albumin ratio (CAR), neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) as biomarkers of disease activity in rheumatic diseases.

Objectives: To investigate the role of CAR, PLR and NLR as potential markers of disease activity in children with non-systemic JIA (nsJIA) and their correlation with the risk of persistent disease activity of flare during follow up.

Methods: Our prospective, cross-sectional study involved 130 nsJIA patients (74 with active disease and 56 with inactive disease according to Wallace criteria) and 62 healthy controls.

Molecular Mechanisms of Fetal and Neonatal Lupus: A Narrative Review of an Autoimmune Disease Transferal across the Placenta.

This study, conducted by searching keywords such as "maternal lupus", "neonatal lupus", and "congenital heart block" in databases including PubMed and Scopus, provides a detailed narrative review on fetal and neonatal lupus. Autoantibodies like anti-Ro/SSA and anti-La/SSB may cross the placenta and cause complications in neonates, such as congenital heart block (CHB). Management options involve hydroxychloroquine, which is able to counteract some of the adverse events, although the drug needs to be used carefully because of its impact on the QTc interval.

Perinatal outcome in anti-NMDAr encephalitis during pregnancy-a systematic review with individual patients' data analysis.

Introduction: Anti-N-methyl-D-aspartate receptor (NMDAr) antibody encephalitis is an autoimmune disorder characterized by synaptic NMDAr current disruption and receptor hypofunction, often affecting women during pregnancy. Clinical manifestations associated with anti-NMDAr encephalitis can occur both in the mother and fetus.

Methods: We generated a systematic search of the literature to identify epidemiological, clinical, and serological data related to pregnant women with anti-NMDAr encephalitis and their children, analyzing the fetal outcomes.