Pediatric Investigation最新文献

Thyroid eye disease (TED) can cause incomitant strabismus with muscle restriction, resulting in diplopia and patient discomfort and discontent. Surgical correction of TED-associated restrictive strabismus has been attempted, with fixed and adjustable suture success rates varying from 38% to 82%. This paper reviews five articles that explored the utility of the intraoperative relaxed muscle positioning (IRMP) technique in patients with restrictive strabismus due to TED. While IRMP is a useful technique for addressing TED-related strabismus and is effective in patients with incomitant strabismus, disease reactivation, staged and unplanned surgeries, combined horizontal and vertical deviations, and previous orbital decompression surgeries, it is probable that this approach can be utilized in children with restrictive types of strabismus. Therefore, further studies are required.

Introduction: Horner syndrome (HS) is a rare neurological disorder arising from disruption of the oculosympathetic pathway. Pediatric HS is uncommon and may be congenital, but underlying sinister causes need to be excluded.

Case presentation: An 18-week-old boy presented with right peri-orbital swelling, initially thought to be pre-septal cellulitis. Further ophthalmic review revealed a right-sided HS. Imaging identified a probable cervical neuroblastoma, leading to an urgent referral to oncology.

Conclusion: Early recognition of pediatric HS is crucial as it may signal underlying malignancies like neuroblastoma. Atypical presentations with sequential or intermittent symptoms make diagnosis challenging. Comprehensive imaging and multidisciplinary care ensure timely diagnosis and management.

Importance: Although studies have examined the link between microbiota and airways, the understanding of microbial imbalances in the upper respiratory tract (URT) and lower respiratory tract (LRT) in pediatric pneumonia remains limited.

Objective: To elucidate the microbial communities within these areas, shedding light on the microbiota's contribution to pneumonia progression and the underlying metabolic shifts.

Methods: Pharyngeal swabs and bronchoalveolar lavage fluid samples were gathered from children with pneumonia and sequenced for 16S rDNA gene. Microbiota composition and differences between URT and LRT were analyzed.

Results: Proteobacteria (40.91%), Firmicutes (25.61%), and Actinobacteria (12.77%) were the three most abundant phyla in the airways of the children with pneumonia. Richness (P = 0.003), Chao1 (P = 0.003), and abundance-based coverage estimator (P = 0.003) indices were significantly higher in the LRT than URT. Streptococus infantis was more abundant in the URT, whereas Cyanobacteria at the phylum level, Alphaproteobacteria and Chloroplast at the class level, Pseudomonadales, Burkholderiales, and Streptophyta at the order level, Moraxellaceae and Corynebacteriaceae at the family level, Moraxella and Corynebacterium at the genus level were more prevalent in the LRT. Multiple pathways such as d-glutamine and d-glutamate metabolism (P = 0.0032) were significantly activated in the URT, whereas inorganic ion transport metabolism (P = 0.0239) and tryptophan metabolism (P = 0.0284) were significantly activated in the LRT. Streptococcus genus negatively impacted blood indicators in those children.

Interpretation: Our study characterizes the LRT and URT microbiota in pediatric pneumonia children and links them to clinical features, enhancing our understanding of the disease's pathogenesis.

Importance: Medulloblastoma (MB) is the most common malignant brain tumor in children, with metastasis being the primary cause of recurrence and mortality. The tumor microenvironment (TME) plays a critical role in driving metastasis; however, the mechanisms underlying TME alterations in MB metastasis remain poorly understood.

Objective: To develop and validate machine learning (ML) models for predicting patient outcomes in MB and to investigate the role of TME components, particularly immune cells and immunoregulatory molecules, in metastasis.

Methods: ML models were constructed and validated to predict prognosis and metastasis in MB patients. Eight algorithms were evaluated, and the optimal model was selected. Lasso regression was employed for feature selection, and SHapley Additive exPlanations values were used to interpret the contribution of individual features to model predictions. Immune cell infiltration in tumor tissues was quantified using the microenvironment cell populations-counter method, and immunohistochemistry was applied to analyze the expression and distribution of specific proteins in tumor tissues.

Results: The ML models identified metastasis as the strongest predictor of poor prognosis in MB patients, with significantly worse survival outcomes observed in metastatic cases. High infiltration of CD8+ T cells and cytotoxic T lymphocytes (CTLs), along with elevated expression of the TGFB1 gene encoding transforming growth factor beta 1 (TGF-β1), were strongly associated with metastasis. Independent transcriptomic and immunohistochemical analyses confirmed significantly higher CD8+ T cell/CTL infiltration and TGF-β1 expression in metastatic compared to nonmetastatic MB samples. Patients with both high CD8+ T cell/CTL infiltration and elevated TGFB1 expression in the context of metastasis exhibited significantly worse survival outcomes compared to patients with low expression and no metastasis.

Interpretation: This study identifies metastasis as the key prognostic factor in MB and reveals the pivotal roles of CD8+ T cells, CTLs, and TGF-β1 within the TME in promoting metastasis and poor outcomes. These findings provide a foundation for developing future therapeutic strategies targeting the TME to improve MB patient outcomes.

Importance: Ocular involvement in pediatric leukemia is often under-recognized, especially in asymptomatic cases. Prevalence estimates of childhood leukemic ophthalmopathy range from 0.32% to 71%, depending on the study design and population.

Objective: To determine the prevalence and describe the nature of ocular involvement in newly diagnosed pediatric leukemia through systematic review and meta-analysis.

Methods: A comprehensive search of MEDLINE, Embase, Cochrane, and Web of Science databases was conducted up to July 2024. Studies reporting on ocular involvement at diagnosis in children aged 18 years or younger with leukemia were included. Cases of relapsed disease were excluded as were those receiving concurrent treatment. A random effects meta-analysis using an inverse-variance restricted maximum likelihood approach was performed for prevalence estimates.

Results: Fourteen studies involving 2989 pediatric leukemia patients were included. The overall pooled prevalence of ocular involvement at diagnosis was 20.32% (95%CI = 9.88%-33.08%). The prevalence of asymptomatic ocular involvement was higher at 23.90% (95%CI = 10.27%-40.63%) compared to 14.75% (95%CI = 0.00%-45.31%) for symptomatic involvement alone. High heterogeneity (I² = 97.7%) was observed across studies, likely driven by differences in study design and populations.

Interpretation: Ocular involvement in newly diagnosed pediatric leukemia is more common than previously understood, particularly for asymptomatic cases. Current practices of selective ophthalmic assessment may miss a number of early-stage ocular manifestations, emphasizing the need for all newly diagnosed patients to be screened for ophthalmic involvement at the time of diagnosis.

Retinopathy of prematurity (ROP) and anemia are often comorbid in preterm and low birth weight infants in the United States. However, the relationship between ROP and anemia in infants is unclear across prospective and retrospective studies due to confounding from other comorbidities of prematurity and variable study designs. Molecular mechanisms that may underlie this association include tissue hypoxia, oxidative stress, inflammation, and the timing of onset of anemia relative to the phase of ROP. Furthermore, maternal or neonatal disruptions in iron homeostasis, leading to either iron deficiency or accumulation, have been associated with ROP. Further studies, including randomized clinical trials, are needed to better elucidate the association between ROP and anemia, as well as the impact of the timing of the onset of anemia.

Importance: Mycoplasma pneumoniae pneumonia (MPP) with chest computed tomography (CT) findings showing airway involvement as the main manifestation has begun to be noted and increasingly reported. This type of MPP has different clinical features and may progress to bronchiolitis obliterans (BO). Early recognition and treatment are helpful for reducing sequelae.

Objective: To investigate the clinical characteristics of MPP patients with airway involvement and provide guidance for clinical recognition of this type.

Methods: Data from children diagnosed with MPP were collected. Forty-one patients were assigned to the airway group according to chest CT, and 114 patients were assigned to the air space group. The clinical data of the two groups were compared and analyzed.

Results: The children in the airway group were younger, and the prevalence of wheezing, pulmonary moist rales, and allergic background in the airway group was greater. The prevalence of severe MPP, the proportions of neutrophils, C-reactive protein, and D-dimer were lower in the airway group than in the air space group. Significantly more patients had lung involvement in both airways in the airway group. No cases of BO were found in the airway group.

Interpretation: Mycoplasma pneumoniae-associated airway involvement mostly occurs in young children, especially in atopic individuals. Patients with this type of pneumonia are prone to have clinical wheezing and pulmonary moist rales. The airway group included relatively few severe cases, but more patients had involvement of both lungs. Whether the patients in the airway group had a greater chance of developing BO needs further investigation.

We investigate the utility of microbial cell-free DNA (mcfDNA) from the blood to predict surgical culture results. In this study, only 26.9% of patients had mcfDNA results that were considered predictive of the causative organism(s). There was a significant burden of contamination in the cohort, emphasizing that dedicated protocols must be followed when running gene-based diagnostics. Healthy patients showed detectable mcfDNA signals, though typically at lower molecules per milliliter for similar pathogens.