Background: Malocclusion is a common condition in children, often requiring timely orthodontic intervention during critical stages of craniofacial development. Lateral cephalometric radiography remains a fundamental diagnostic modality; however, manual landmark identification suffers from subjectivity, time consumption, and inter-examiner variability—challenges that are amplified in growing pediatric patients. Objectives: To review recent applications of artificial intelligence in pediatric lateral cephalometric analysis, focusing on automated landmark detection, diagnostic accuracy, clinical usefulness, educational value, and radiation-reducing innovations. Methods: This narrative review synthesizes peer-reviewed literature published between January 2020 and October 2025. Studies evaluating artificial intelligence (AI) systems for cephalometric analysis in pediatric or adolescent populations were included, with emphasis on methodological approaches, accuracy metrics, clinical feasibility, and innovations such as low-dose imaging or photograph-based landmark prediction. Results: Deep learning models—particularly convolutional and region-based neural networks—consistently achieved landmark localization errors below 2 mm, meeting clinically acceptable thresholds. AI integration significantly reduced analysis time (from 10–30 minutes to seconds) and enhanced reproducibility, especially when used in hybrid workflows combining algorithmic output with clinician verification. Educational applications showed improved trainee performance, while emerging non-ionizing approaches (e.g. AI-driven prediction from facial photographs) offered promising radiation-reduction strategies. Nevertheless, limitations persist, including platform-specific performance disparities, insufficient diversity in training datasets, and limited model interpretability. Conclusions: AI is not a replacement for clinical expertise but a powerful adjunct in pediatric cephalometric analysis. It enhances diagnostic efficiency, supports education, and enables safer imaging alternatives. Future implementation must prioritize diverse pediatric data, transparent and explainable architectures, and real-world validation to ensure equitable, reliable, and ethically sound clinical adoption.
Background: Glycogen storage disease type I (GSD I), or Von Gierke disease, is a rare autosomal recessive disorder caused by mutations in the G6PC1 (GSD Ia) or SLC37A4 (GSD Ib) genes. Early genetic diagnosis is essential to prevent complications. Objectives: This study aimed to systematically review reported G6PC1 and SLC37A4 variants in Asian patients and to identify region-specific mutation patterns. Methods: A systematic search of Web of Science, PubMed, Embase, Scopus, ProQuest, and Google Scholar was performed through June 4, 2023, using appropriate MeSH terms and keywords. Eligible studies included cross-sectional studies, cohorts, case reports/series, and case-control designs that reported the type and frequency of pathogenic or likely pathogenic G6PC1 or SLC37A4 variants in Asian patients with GSD I. Two reviewers independently extracted data, with discrepancies resolved by a third reviewer. Variant pathogenicity was assessed using the American College of Medical Genetics and Genomics (ACMG) criteria and cross-validated with ClinVar and HGMD. Regional variant frequencies were summarized using descriptive methods. Results: Seventy studies from 14 Asian countries, comprising 680 patients, were included. Distinct regional mutation patterns were identified. In East Asia, the G6PC1 c.648G>T and SLC37A4 c.572C>T/c.521C>T variants predominated. In West Asia, G6PC1 c.247C>T and SLC37A4 c.1042_1043delCT were most frequent. In South Asia, G6PC1 c.648G>T/c.150_151delGT and SLC37A4 c.796_797del/c.898C>T were common. These patterns highlight both shared and region-specific variants. Conclusions: The study reveals diverse, region-specific G6PC1 and SLC37A4 mutations in Asian patients with GSD I, supporting targeted genetic screening and personalized diagnostics.
Background: Childhood health and development have a significant impact on mortality, morbidity, and long-term well-being indicators in developing countries. Objectives: This study aimed to evaluate the research and technological activities of Iranian pediatric research centers (PRCs) over a ten-year period (2014-2023). Methods: A cross-sectional study was conducted in 2024 to assess 33 licensed PRCs in Iran. Data were collected from annual evaluation reports and analyzed based on predefined research evaluation criteria, across three domains: stewardship, scientific authority, and research impact. Statistical analysis was performed using SPSS software (version 22.0), with the level of significance set at P<0.05. Results: Findings indicate that the Research Center for Immunodeficiency of Tehran University of Medical Sciences (TUMS), Child Growth and Development Research Center of Isfahan UMS and Maternal, Fetal and Neonatal Research Center of Tehran UMS ranked first to third in the evaluation, respectively. In terms of stewardship, all PRCs had a strategic plan; however stakeholder participation in its development was limited. The top three priority areas were related to childhood non-communicable diseases. Regarding scientific authority, 8,146 research articles have been published. Of these, 68.3% were indexed in Web of Science (WOS), and the mean five-year h-index of the centers was 9.2. PRCs submitted a total of eight research impact proposals. Conclusions: Iranian PRCs demonstrate clear strengths, including established strategic plans and a substantial body of high quality publications, reflecting growing scientific visibility. Nonetheless, limited stakeholder involvement in planning and the small number of research impact proposals reveal areas requiring further development to strengthen translation and enhance contributions to child health.
Background: Inhaled corticosteroids (ICS) are the primary anti-inflammatory therapy for long-term asthma management, with well-documented benefits in reducing airway inflammation, controlling symptoms, preventing exacerbations, and lowering asthma-related morbidity and mortality. Although systemic corticosteroids (SCS) remain the standard of care for acute exacerbations, the role of high-dose ICSs in this context is not fully established. Some studies—particularly in pediatric populations—have suggested potential benefits of early administration of high-dose ICSs, while evidence in adults remains inconclusive. Objectives: This narrative review aimed to evaluate nebulized ICS for the treatment or prevention of wheezing and asthma exacerbations, with emphasis on beclomethasone dipropionate (BDP). Methods: We reviewed studies published in English, French, Spanish, and Portuguese over the past 25 years in the following databases: PubMed, SciELO, Google Scholar, and the Virtual Health Library. Search terms included: acute asthma OR asthma exacerbation AND beclomethasone OR budesonide AND suspension OR nebulization AND children OR adolescents Results: ICS remain the primary anti-inflammatory drug used in asthma therapy. Their effects include both genomic and non-genomic mechanisms. Non-genomic proprieties have rapid onset of action and are exclusive to inhaled formulations, including the well described transient reduction in airway blood flow. Other non-genomic ICS mechanisms studied are the inhibition of mast cell degranulation and relaxation of airway muscle cells. Conclusions: Nebulizers are effective devices for inhaled administration, particularly used in young children because they eliminate the need of respiratory coordination. In the treatment of asthma exacerbations, ICS administered in high doses within the first hour of treatment in an emergency department, with or without concomitant SCS, may reduce the risk of hospitalization and decrease the need for SCS in children. Intermittent highdose ICS may be used to prevent asthma exacerbations in young children without persistent symptoms. The efficacy and safety of nebulized BDP have been demonstrated in several pediatric publications across various age groups.
Background: Chronic mucocutaneous candidiasis (CMC) is most commonly associated with gain-of-function (GOF) mutations in STAT1, which impair immune regulation and predispose to recurrent fungal infections, autoimmunity, and lymphoproliferative disorders. The clinical spectrum of STAT1 GOF is broad, ranging from severe multisystem involvement to milder phenotypes. Here, we present a case of a child carrying the STAT1 GOF mutation A267V, who exhibited an attenuated phenotype limited to mucocutaneous candidiasis. Case Presentation: A 10-year-old girl presented with recurrent episodes of oral thrush and chronic onychomycosis, consistent with isolated mucocutaneous candidiasis. She had no history of systemic infections, autoimmune disease, or lymphoproliferative manifestations. Family history was notable for early-onset esophageal cancer in her father. Immunological evaluation revealed a preserved CD4/CD8 ratio (2.05), normal immunoglobulin levels, and absence of autoantibodies. Despite normal B-cell counts, her vaccine response was impaired, with non-protective diphtheria-specific IgG levels, suggesting a defect in STAT1-mediated follicular helper T cell function. Genetic analysis confirmed a heterozygous STAT1 GOF mutation (A267V), consistent with autosomal dominant inheritance of CMC. The patient was treated with fluconazole for fungal infection control and the Janus kinase (JAK) inhibitor baricitinib to modulate hyperactive JAK-signal transducer and activator of transcription (JAK–STAT) signaling. This therapeutic approach resulted in resolution of infections and improvement in inflammatory activity. This case illustrates an attenuated phenotype of STAT1 GOF disease, in which the A267V variant was associated with susceptibility to candidiasis but preservation of broader immune homeostasis. Unlike the typical presentation of STAT1 GOF, the patient demonstrated normal immune parameters, including immunoglobulin levels and CD4/CD8 ratio, and no autoimmunity or systemic fungal disease. The clinical response to baricitinib highlights the therapeutic potential of JAK–STAT pathway inhibition in STAT1 GOF syndromes. Conclusions: This case expands the clinical spectrum of STAT1 GOF mutations by demonstrating that the A267V variant can present as an isolated mucocutaneous phenotype without systemic immune dysregulation. It also emphasizes the potential of JAK inhibition as a targeted therapeutic strategy and the importance of long-term cancer surveillance in these patients.
