Search Results (2,840)

Aseptic abscess syndrome is a clinical entity that is being increasingly documented. Unfortunately, apart from the French registry, there are no other studies presenting collective data. In this review, we sought to analyze clinical and laboratory data from case reports published from the rest of the world. A total of 107 articles were found through our literature search in PubMed, Scopus, and Google, which contained 108 patients who met our eligibility criteria, including pediatric cases. The mean age at diagnosis was 39.1 years, and 54.6% of the patients were female. Cases were found affecting almost every organ, but the most common abscess locations were the spleen (51.9%), liver (35.2%), and lung (23.1%); 34.3% of the patients had multiorgan disease at diagnosis. An inflammatory syndrome was evident, with fever (79.6%), pain (66.7%), median white blood cell count of 16,200/μL, median C-reactive protein level of 15.5 mg/dL, and mean erythrocyte sedimentation rate of 79 mm/h. In total, 88.9% had an associated disease, with the most frequent being neutrophilic dermatosis (43.5%) and inflammatory bowel disease (31.5%); associated disease was inactive during abscess diagnosis in approximately one-quarter of patients. Moreover, 93.5% received corticosteroids with or without other agents, while 21.3% underwent excision surgery, which led to relapse if immunosuppressants were not concomitantly administered. No deaths were reported due to the syndrome, but 42.4% of cases that provided relevant data relapsed despite the relatively short follow-up period (median 1 year), either in the same or different organs. Combined immunomodulatory treatment, based on subgroup analysis, appeared protective against relapse in females and patients with splenic abscess or C-reactive protein >12 mg/dL (odds ratio 0.16 [95% CI 0.04–0.59]/p = 0.004, 0.09 [95% CI 0.01–0.62]/p = 0.008 and 0.23 [95% CI 0.06–0.92]/p = 0.03, respectively). Infection should always be the working diagnosis in patients with abscesses. However, if the infectious workup is negative, antimicrobials have failed, and no sepsis is present, then aseptic abscess syndrome should be considered; response to high-dose corticosteroids is a therapeutic criterion in almost all cases. Full article

Alagille syndrome (ALGS) is a multisystem disorder characterized by a paucity of intrahepatic bile ducts and cholestasis, often requiring liver transplantation before adulthood. Due to the lack of genotype–phenotype correlation, case series are essential to understand disease presentation and prognosis. Data on Mexican ALGS patients are limited. Therefore, we aimed to characterize a large series of Mexican patients by consolidating cases from major institutions and independent geneticists, with the goal of generating one of the most comprehensive cohorts in Latin America. We retrospectively analyzed clinical records of pediatric ALGS patients, focusing on demographics, clinical features, laboratory and imaging results, biopsy findings, and transplant status. Genetic testing was performed for all cases without prior molecular confirmation. We identified 52 ALGS cases over 13 years; 22 had available clinical records. Of these, only 6 had molecular confirmation at study onset, prompting genetic testing in the remaining 16. We identified six novel JAG1 variants and several previously unreported phenotypic features. A liver transplantation rate of 13% was observed in the cohort. This study represents the largest molecularly confirmed ALGS cohort in Mexico to date. Novel genetic and clinical findings expand the known spectrum of ALGS and emphasize the need for improved therapies, such as IBAT inhibitors, which may alleviate symptoms and reduce the need for transplantation. Full article

This study investigated the effects of color shade and curing time on the degree of conversion (DC) and microhardness of colored compomers. A total of 162 samples (81 for DC, 81 for microhardness) were prepared, with nine samples per color group (gold, blackberry, green, pink, orange, lemon, blue, silver) and for the control. Samples were subdivided into three polymerization subgroups (3 s/3200 mW/cm², 10 s/1000 mW/cm², 20 s/1000 mW/cm²). The DC was analyzed via fourier transform infrared spectroscopy (FTIR) and microhardness was measured using Vickers testing. Statistical analysis included two-way ANOVA and Spearman correlation (α = 0.05). The colored compomers demonstrated a significantly lower DC compared to the control group (p ≤ 0.001). Among the tested colors, green exhibited the lowest DC (33.3%), while orange showed the highest (51.0%). A significant difference in DC was observed across curing times (p = 0.005), with the 3 s and 20 s groups exhibiting significantly higher conversion rates than the 10 s group. Microhardness values exhibited significant variation depending on the color (p < 0.001). Gold compomers demonstrated the lowest microhardness, whereas silver compomers showed comparable performance with the control group (p = 0.154). A moderate correlation between DC and microhardness was observed overall (ρ = 0.42, p = 0.003). However, the observed relationships were color-dependent: orange displayed a strong positive correlation (ρ = 0.78), whereas pink revealed no meaningful association (ρ = −0.15). Color and curing time critically influence compomer performance. High-intensity short curing is viable for lighter colors, while darker colors require extended curing. Customized protocols are essential to optimize clinical outcomes in pediatric dentistry. Full article

Background and Objectives: This study aimed to explore the risk factors of histopathological crescent formation in pediatric IgA vasculitis nephritis (IgAVN). Materials and Methods: Enrolled patients with biopsy-proven IgAVN from Zhejiang University’s hospital were split into two groups: 377 with no crescents on histopathology (Group 1) and 364 with crescentic nephritis (Group 2). Collected data included clinical features, lab indicators, histopathological grading, and factors causing glomerular sclerosis. Logistic regression was used to assess factors affecting crescent formation in IgAVN. Double-immunofluorescence assay was used to detect TGF-β1, MCP-1, α-SMA, Collagen I, and FN1 in kidney biopsy specimens. The relationship between kidney fibrosis factors and histopathological grade were analyzed using Chi-square and Pearson tests. Results: A total of 741 patients with IgAVN were included in the study. Univariate logistic regression identified potential factors related to crescent formation, including age, gender, clinical classification, hematuria grade, 24 h urine protein level, peripheral white blood cells (WBCs), serum albumin, Cystatin-C, APTT, and PT. Multivariate analysis revealed statistical significance for age, 24 h urine protein, and WBCs across pathological grades (p < 0.05). Mantel–Haenszel Chi-square tests indicated a linear relationship between IgAVN pathological grade and α-SMA, TGF-β1, MCP-1, and FN1. Pearson correlation analysis confirmed a positive correlation between pathological grade and these markers. Conclusions: Age, 24 h urinary protein, and blood WBCs are identified as risk factors for histopathological crescent formation in children with IgAVN. Additionally, a higher pathological grade is associated with more pronounced fibrosis indicators. Full article

Background/Objective: This study explores a novel approach for diagnosing common middle ear pathologies using Pressure-Less Acoustic Immittance (PLAI™), a non-invasive alternative to conventional tympanometry. Methods: A total of 516 ear measurements were collected and stratified into three age groups: 0–3, 3–12, and 12+ years, reflecting key developmental stages. PLAI™-derived acoustic parameters, including resonant frequency, peak admittance, canal volume, and resonance peak frequency boundaries, were analyzed using Random Forest classifiers, with SMOTE addressing class imbalance and SHAP values assessing feature importance. Results: Age-specific models demonstrated superior diagnostic accuracy compared to non-stratified approaches, with macro F1-scores of 0.79, 0.84, and 0.78, respectively. Resonant frequency, ear canal volume, and peak admittance consistently emerged as the most informative features. Notably, age-based stratification significantly reduced false negative rates for conditions such as Otitis Media with Effusion and tympanic membrane retractions, enhancing clinical reliability. These results underscore the relevance of age-aware modeling in pediatric audiology and validate PLAI™ as a promising tool for early, pressure-free middle ear diagnostics. Conclusions: While further validation on larger, balanced cohorts is recommended, this study supports the integration of machine learning and acoustic immittance into more accurate, developmentally informed screening frameworks. Full article

Background/Objectives: Osteosarcoma (OS) is the most common malignant bone tumor in children and adolescents; the survival rate is as low as 24%. Accurate prediction of clinical outcomes remains a challenge due to tumor heterogeneity and the complexity of pediatric cases. This study aims to improve predictions of progressive disease, therapy response, relapse, and survival in pediatric OS using MRI-based radiomics and machine learning methods. Methods: Pre-treatment contrast-enhanced coronal T1-weighted MR scans were collected from 63 pediatric OS patients, with an additional nine external cases used for validation. Three strategies were considered for target region segmentation (whole-tumor, tumor sampling, and bone/soft tissue) and used for MRI-based radiomics. These were then combined with clinical features to predict OS clinical outcomes. Results: The mean age of OS patients was 11.8 ± 3.5 years. Most tumors were located in the femur (65%). Osteoblastic subtype was the most common histological classification (79%). The majority of OS patients (79%) did not have evidence of metastasis at diagnosis. Progressive disease occurred in 27% of patients, 59% of patients showed adequate therapy response, 25% experienced relapse after therapy, and 30% died from OS. Classification models based on bone/soft tissue segmentation generally performed the best, with certain clinical features improving performance, especially for therapy response and mortality. The top performing classifier in each outcome achieved 0.94–1.0 validation ROC AUC and 0.63–1.0 testing ROC AUC, while those without radiomic features (RFs) generally performed suboptimally. Conclusions: This study demonstrates the strong predictive capabilities of MRI-based radiomics and multi-region segmentations for predicting clinical outcomes in pediatric OS. Full article

Background: Neurogenic bladder (NB) in children may lead to recurrent urinary tract infections (UTIs), renal deterioration, and a reduced quality of life. Clean intermittent catheterization (CIC) is the standard of care, but in some patients, CIC may be unfeasible due to anatomical, sensory, or compliance issues. Button cystostomy (BC) has emerged as a minimally invasive, bladder-preserving alternative. This study aimed to assess the feasibility, safety, and outcomes in the long-term of BC in pediatric NB patients. Methods: Retrospective analysis was conducted on children with NB who underwent endoscopic BC placement between January 2020 and December 2024 in a tertiary pediatric center. Demographic data, operative time, complications, and follow-up outcomes were collected. All procedures used an endoscopic approach with cystoscopic guidance for safe device placement. Results: Thirty-three patients (25 males; median age 7.96 years) underwent BC placement. Most had spinal dysraphism (63.6%). The mean operative time was 48.5 ± 6 min. During a mean follow-up of 2.1 ± 1.4 years, five patients (15.2%) had febrile UTIs and two had minor leakage. No major complications occurred. Four buttons were removed due to clinical improvement (N = 1), the fashioning of a continent derivation (N = 1) and implantation of a sacral neuromodulator (N = 2); two patients accepted CIC. Satisfaction was reported by 93.9% of families. Conclusions: BC is an effective, minimally invasive alternative for urinary drainage in children with NB, even when compared to continent diversion techniques such as the Mitrofanoff, due to its lower invasiveness, greater feasibility, and lower complication rate. Broader adoption may be warranted, but prospective studies are needed to confirm long-term outcomes. Full article

Amblyopia, commonly affecting children aged 0–6 years, results from disrupted visual processing during early development and often leads to reduced visual acuity in one eye. This study presents the development and preliminary usability assessment of a non-invasive ocular monitoring device designed to support oculomotor engagement and therapy adherence in amblyopia management. The system incorporates an interactive maze-navigation task controlled via gaze direction, implemented during monocular and binocular sessions. The device tracks lateral and anteroposterior eye movements and generates visual reports, including displacement metrics and elliptical movement graphs. Usability testing was conducted with a non-probabilistic adult sample (n = 15), including individuals with and without amblyopia. The System Usability Scale (SUS) yielded an average score of 75, indicating good usability. Preliminary tests with two adults diagnosed with amblyopia suggested increased eye displacement during monocular sessions, potentially reflecting enhanced engagement rather than direct therapeutic improvement. This feasibility study demonstrates the device’s potential as a supportive, gaze-controlled platform for visual engagement monitoring in amblyopia rehabilitation. Future clinical studies involving pediatric populations and integration of visual stimuli modulation are recommended to evaluate therapeutic efficacy and adaptability for early intervention. Full article

The management of acute lymphoblastic leukemia (ALL), the most common pediatric malignancy, critically relies on thiopurine therapy, such as 6-mercaptopurine (6-MP), during the maintenance phase. However, significant inter-individual response variety and high risk of myelosuppression often disrupt therapy efficacy. Pharmacogenetics offer crucial strategies to personalized therapy. While thiopurine methyltransferase (TPMT) was initially the primary focus, the discovery of nudix hydrolase 15 (NUDT15) appears as a more comprehensive determinant of thiopurine intolerance. This review aims to consolidate and critically evaluate the advancement achieved in unraveling the biological mechanism and clinical significance of NUDT15 pharmacogenetics in thiopurine therapy. Foundational studies showed the vital role of NUDT15 in the detoxification of active thiopurines, with common genetic variants (for instance, p. Arg139Cys) significantly disrupting its activity, leading to the accumulation of toxic metabolites. Observational studies consistently associated NUDT15 variants with severe myelosuppression, notably in Asian populations. Recent randomized controlled trials (RCTs) confirmed that NUDT15 genotype-guided dosing effectively reduces thiopurine-induced toxicity without interfering with the therapeutic outcome. Despite these advancements, challenges remain present, including the incomplete characterization of rare variants, limited data in the diverse Asian populations, and the need for standardized integration with metabolite monitoring. In conclusion, NUDT15 pharmacogenetics is essential for improving patient safety and thiopurine dosage optimization in the treatment of ALL. For thiopurine tailored medicine to be widely and fairly implemented, future research should focus on increasing genetic data across different populations, improving the dose adjustment algorithm, and harmonizing therapeutic guidelines. Full article

Background: Point-of-care ultrasound (POCUS) is gaining recognition as a valuable diagnostic tool in various fields of medicine, including pediatrics. Its application at the point of care enables real-time clinical decision-making, which is particularly advantageous in pediatric settings. Although global interest in POCUS is growing, many European countries—including Poland—still lack formal training programs for POCUS at both the undergraduate and postgraduate levels. Nevertheless, the number of pediatricians incorporating POCUS into their daily clinical practice in Poland is increasing. However, the extent of its use and perceived value among pediatricians remains largely unknown. This study aimed to evaluate the current level of POCUS utilization in pediatric care in Poland, focusing on pediatricians’ self-assessed competencies, perceptions of its clinical utility, and key barriers to its implementation in daily practice. Methods: This cross-sectional study was conducted between July and August 2024 using an anonymous online survey distributed to pediatricians throughout Poland via national professional networks, with a response rate of 7.3%. Categorical variables were analyzed using the chi-square test of independence to assess the associations between key variables. Quantitative data were analyzed using descriptive statistics, and qualitative data from open-ended responses were subjected to a thematic analysis. Results: A total of 210 pediatricians responded. Among them, 149 (71%) reported access to ultrasound equipment at their workplace, and 89 (42.4%) reported having participated in some form of POCUS training. Only 46 respondents (21.9%) reported frequently using POCUS in their clinical routine. The self-assessed POCUS competence was rated as low or very low by 136 respondents (64.8%). While POCUS was generally perceived as a helpful tool in facilitating and accelerating clinical decisions, the main barriers to implementation were a lack of formal training and limited institutional support. Conclusions: Although POCUS is perceived as clinically valuable by the surveyed pediatricians in Poland, its routine use remains limited due to training and systemic barriers. Future efforts should prioritize the development of a validated, competency-based training framework and the implementation of a larger, representative national study to guide the structured integration of POCUS into pediatric care. Full article

Background: Cochlear implantation (CI) in pediatric patients with cochlear nerve deficiencies (CND) remains controversial due to a highly variable clinical population, lack of evidence-based guidelines, and mixed research findings. This study assessed current clinical perspectives and practices regarding CI candidacy in children with CND among hearing healthcare professionals in the USA. Methods: An anonymous 19-question online survey was distributed to CI clinicians nationwide. The survey assessed professional background, experience with aplasia and hypoplasia, and perspectives on CI versus auditory brainstem implant (ABI) candidacy, including imaging practices and outcome expectations. Both multiple-choice and open-ended responses were analyzed to identify trends and reasoning. Results: Seventy-two responses were analyzed. Most clinicians supported CI for hypoplasia (60.2%) and, to a lesser extent, for aplasia (41.7%), with audiologists more likely than neurotologists to favor CI. Respondents cited lower risk, accessibility, and the potential for benefit as reasons to attempt CI before ABI. However, many emphasized a case-by-case approach, incorporating imaging, electrophysiological testing, and family counseling. Only 22.2% considered structural factors the best predictors of CI success. Conclusions: Overall, hearing health professionals in the USA tend to favor CI as a first-line option, while acknowledging the limitations of current diagnostic tools and the importance of individualized, multidisciplinary decision-making in CI candidacy for children with CND. Findings reveal a high variability in clinical perspectives on CI implantation for pediatric aplasia and hypoplasia and a lack of clinical consensus, highlighting the need for more standardized assessment and imaging protocols to provide greater consistency across centers and enable the development of evidence-based guidelines. Full article

Purpose: The present study aims to evaluate alterations in the peripapillary retinal nerve fiber layer (RNFL) thickness in pediatric patients following surgical resection of childhood-onset craniopharyngioma (CP) and to identify tumor characteristics and other factors influencing these alterations, including changes in the lesion’s location. Design: retrospective clinical cohort study. Methods: A retrospective analysis was conducted on 73 eyes from 38 patients with CP and 64 eyes from 32 age- and sex-matched healthy controls. The mean age of the CP patients was 10.3 ± 4.2 years (range 4–17), while the control group had a mean age of 10.5 ± 3.1 years (range 4–17). Optical coherence tomography (OCT) was used to assess the peripapillary RNFL thickness in the study and control groups. RNFL thickness was analyzed in the superior, inferior, and average sectors, as well as across eight optic nerve sectors. Tumor characteristics were evaluated to determine their correlation with changes in RNFL thickness in individual sectors. Results: Postoperative thickness of peripapillary RNFL in all individual sectors was significantly reduced in the CP group compared to healthy controls. Location, tumor volume, maximum tumor diameter, calcification, ventriculoperitoneal shunt, surgery technique, total resection, presence of Rosenthal fibers, and reoperation due to progression or recurrence correlated with damage to RNFL. Conclusions: CP is associated with significant reductions in RNFL thickness, indicating the tumor’s impact on optic nerve fibers. OCT is a valuable tool for monitoring visual pathway impairment and postoperative outcomes. Correlations between RNFL thickness in individual sectors and clinical parameters may offer valuable insights for diagnosis and monitoring, underlining their potential role in predicting visual outcomes. Regular RNFL evaluation should be integrated into the long-term care of CP patients to optimize visual prognosis and detect progressive or residual damage. Full article

Background/Objectives: The diagnosis of pediatric dental conditions from panoramic radiographs is uniquely challenging due to the dynamic nature of the mixed dentition phase, which can lead to subjective and inconsistent interpretations. This study aims to develop and rigorously validate an advanced deep learning model to enhance diagnostic accuracy and efficiency in pediatric dentistry, providing an objective tool to support clinical decision-making. Methods: An initial comparative study of four state-of-the-art YOLO variants (YOLOv8, v9, v10, and v11) was conducted to identify the optimal architecture for detecting four common findings: Dental Caries, Deciduous Tooth, Root Canal Treatment, and Pulpotomy. A stringent two-tiered validation strategy was employed: a primary public dataset (n = 644 images) was used for training and model selection, while a completely independent external dataset (n = 150 images) was used for final testing. All annotations were validated by a dual-expert team comprising a board-certified pediatric dentist and an experienced oral and maxillofacial radiologist. Results: Based on its leading performance on the internal validation set, YOLOv11x was selected as the optimal model, achieving a mean Average Precision (mAP50) of 0.91. When evaluated on the independent external test set, the model demonstrated robust generalization, achieving an overall F1-Score of 0.81 and a mAP50 of 0.82. It yielded clinically valuable recall rates for therapeutic interventions (Root Canal Treatment: 88%; Pulpotomy: 86%) and other conditions (Deciduous Tooth: 84%; Dental Caries: 79%). Conclusions: Validated through a rigorous dual-dataset and dual-expert process, the YOLOv11x model demonstrates its potential as an accurate and reliable tool for automated detection in pediatric panoramic radiographs. This work suggests that such AI-driven systems can serve as valuable assistive tools for clinicians by supporting diagnostic workflows and contributing to the consistent detection of common dental findings in pediatric patients. Full article

Background/Objectives: Medulloblastoma is the most common malignant brain tumor in children and comprises four molecular subtypes—WNT, SHH, Group 3, and Group 4—each with distinct genetic, epigenetic, and metabolic features. Increasing evidence highlights the critical role of metabolic reprogramming and epigenetic alterations in driving tumor progression, therapy resistance, and clinical outcomes. This review aims to explore the interplay between metabolic and epigenetic mechanisms in medulloblastoma, with a focus on their functional roles and therapeutic implications. Methods: A comprehensive literature review was conducted using PubMed and relevant databases, focusing on recent studies examining metabolic pathways and epigenetic regulation in medulloblastoma subtypes. Particular attention was given to experimental findings from in vitro and in vivo models, as well as emerging preclinical therapeutic strategies targeting these pathways. Results: Medulloblastoma exhibits metabolic adaptations such as increased glycolysis, lipid biosynthesis, and altered amino acid metabolism. These changes support rapid cell proliferation and interact with the tumor microenvironment. Concurrently, epigenetic mechanisms—including DNA methylation, histone modification, chromatin remodeling, and non-coding RNA regulation—contribute to tumor aggressiveness and treatment resistance. Notably, metabolic intermediates often serve as cofactors for epigenetic enzymes, creating feedback loops that reinforce oncogenic states. Preclinical studies suggest that targeting metabolic vulnerabilities or epigenetic regulators—and particularly their combination—can suppress tumor growth and overcome resistance mechanisms. Conclusions: The metabolic–epigenetic crosstalk in medulloblastoma represents a promising area for therapeutic innovation. Understanding subtype-specific dependencies and integrating biomarkers for patient stratification could facilitate the development of precision medicine approaches that improve outcomes and reduce long-term treatment-related toxicity in pediatric patients. Full article

Background/Objective: The COVID-19 pandemic profoundly transformed social life worldwide, indiscriminately affecting individuals across all age groups. Children have not been exempted from the risk of severe illness and death caused by COVID-19. Objective: This paper sought to describe the clinical findings, laboratory and imaging results, and hospital care provided for severe and critical cases of COVID-19 in unvaccinated children, with or without severe asthma, hospitalized in a public referral service for COVID-19 treatment in the Brazilian state of Pernambuco. Methods: This was a case series study of severe and critical COVID-19 in hospitalized, unvaccinated children, with or without severe asthma, conducted in a public referral hospital between March 2020 and June 2021. Results: The case series included 80 children, aged from 1 month to 11 years, with the highest frequency among those under 2 years old (58.8%) and a predominance of males (65%). Respiratory diseases, including severe asthma, were present in 73.8% of the cases. Pediatric multisystem inflammatory syndrome occurred in 15% of the children, some of whom presented with cardiac involvement. Oxygen therapy was required in 65% of the cases, mechanical ventilation in 15%, and 33.7% of the children required intensive care in a pediatric intensive care unit. Pulmonary infiltrates and ground-glass opacities were common findings on chest X-rays and CT scans; inflammatory markers were elevated, and the most commonly used medications were antibiotics, bronchodilators, and corticosteroids. Conclusions: This case series has identified key characteristics of children with severe and critical COVID-19 during a period when vaccines were not yet available in Brazil for the study age group. However, the persistence of low vaccination coverage, largely due to parental vaccine hesitancy, continues to leave children vulnerable to potentially severe illness from COVID-19. These findings may inform the development of public health emergency contingency plans, as well as clinical protocols and care pathways, which can guide decision-making in pediatric care and ensure appropriate clinical management, ultimately improving the quality of care provided. Full article