Frontiers in Pediatrics最新文献

Objectives: Inflammation is increasingly recognized as a key factor in the pathophysiology of bronchopulmonary dysplasia (BPD). While previous research has established significant links between TNF-α polymorphisms and BPD susceptibility, further validation of these associations is needed. This study aims to examine the relationship between TNF-α polymorphisms and the risk of BPD.

Methods: All relevant articles published before October 1, 2024, have been screened in the PubMed, Web of Science, CNKI, and Scopus databases.

Results: A total of 14 case-control studies were conducted: five studies with 1,252 cases and 1,377 controls on -308G/A, three studies with 1,180 cases and 1,194 controls on -238G/A, four studies with 149 cases and 192 controls on -857C/T, and two studies with 82 cases and 162 controls on 1,031 T/C. A significant association was found between the TNF-α -238G/A polymorphism and the risk of BPD. However, no significant relationships were observed for the TNF-α -308G/A, -857C/T, and 1,031 T/C polymorphisms regarding BPD susceptibility.

Conclusions: Our findings indicate a significant association between the TNF-α -238G/A polymorphism and the susceptibility to BPD in preterm neonates, suggesting potential biomarkers for its pathogenesis. However, this meta-analysis has limitations, including possible publication bias and heterogeneity due to the limited number of studies, which may affect the reliability of our conclusions. Moreover, population variability further complicates the interpretation of the link between TNF-α polymorphisms and BPD risk.

Introduction: Brachial plexus birth injury (BPBI) has an incidence of 0.9 per 1,000 live births in the population. Techniques for repair classically include supraclavicular exploration and nerve grafting (SENG) and more recently nerve transfer, namely of the spinal accessory nerve (SAN) to the suprascapular nerve (SSN) to improve functional outcomes such as glenohumeral abduction and external rotation. This systematic review was conducted to evaluate whether spinal accessory nerve transfer produced significantly better outcomes for shoulder abduction in BPBI.

Methods: A search was conducted using Preferred Reporting Items for Systematic Reviews and Meta-Analysis Individual Patient Data guidelines. Standardized comparisons were made using the Mallet Score for shoulder abduction.

Results: 10 full-text articles with itemized patient outcome measures were selected. 110 patients were identified with 51 patients in the SENG group and 59 patients in the SAN transfer group. The mean shoulder abduction Mallet score in the SENG group was 3.50 ± 0.84, while the mean Mallet score in the SAN transfer group was 3.58 ± 0.77, which displayed no significant differences (p = 0.9012). There was no significant relationship between the age at time of surgery and post-operative Mallet scores for shoulder abduction after SENG (p = 0.3720).

Discussion: Our systematic review found that there was no difference observed in post-operative outcomes of shoulder abduction when comparing SAN transfer and nerve grafting. Continued support for nerve grafting lies in the argument that it incorporates the patient's native neuroanatomy and allows for sensory reinnervation.

Background: In recent years, there has been an observed increase in the global diagnosis rate of inflammatory bowel disease among children and adolescents. In inactive disease states, fatigue has emerged as the most debilitating symptom, while in active disease states, it ranks second. However, there remains a notable lack of understanding regarding fatigue in pediatric inflammatory bowel disease patients. Consequently, this study sought to investigate the prevalence and status of fatigue in a cohort of pediatric inflammatory bowel disease patients in China.

Methods: A cross-sectional, questionnaire-based survey was conducted. The researchers recruited 110 patients with inflammatory bowel disease using the convenient sampling method between 1 September 2021 until 31 November 2022 in Department of Gastroenterology of Children's Hospital of Nanjing Medical University. Fatigue was assessed using the Multidimensional Fatigue Scale, while potential factors associated with fatigue were analyzed through univariate and multiple regression analyses.

Results: The study found that the total score of fatigue in children with inflammatory bowel disease was 62.22 ± 20.55. The univariate analysis revealed significant differences in the degree of fatigue across regions, ages, disease severities, corticosteroid use, and biological agent use. Furthermore, the multiple regression analysis indicated a significant difference in BMI (p < 0.05).

Conclusions: Fatigue is a multidimensional symptom that affects a majority of pediatric inflammatory bowel disease patients. Factors such as patient region, age, disease severity, BMI, and drug use are significantly associated with fatigue. Healthcare providers should prioritize the assessment of fatigue symptoms in these patients. Following the initial assessment, targeted interventions should be implemented to alleviate and improve these symptoms.

Introduction: This case report describes a rare instance of small bowel obstruction (SBO) caused by the ingestion of a whole Shine-Muscat grape in a 7-month-old infant. This case adds to the scientific literature by highlighting the potential risk of common fruits, such as grapes, in causing serious gastrointestinal blockages in pediatric patients, which is an uncommon but important consideration for pediatricians and caregivers.

Main symptoms and clinical findings: A 7-month-old female presented with a 3-day history of vomiting, which progressed to bilious vomiting, accompanied by abdominal distension and dehydration. Abdominal CT imaging revealed dilated small bowel loops and a spherical low-density lesion suggestive of an obstructing foreign body.

Main diagnoses therapeutic interventions and outcomes: The diagnosis of mechanical small bowel obstruction due to a foreign body was confirmed intraoperatively. The obstructing object was identified as a whole Shine-Muscat grape. Surgical management involved a minimally invasive laparoscopic approach to crush and move the grape into the colon, avoiding bowel incision. The patient recovered well postoperatively and passed the grape fragments naturally, resuming a normal diet within days.

Conclusion: This case underscores the importance of considering fruit ingestion as a potential cause of intestinal obstruction in infants. Pediatric surgeons and emergency clinicians should be aware of this rare but significant risk and employ careful history-taking, appropriate imaging, and minimally invasive techniques to manage such cases effectively.

Backgrounds: Urethral catheter obstruction is a notable issue that pediatric patients with hypospadias may encounter in the early postoperative period. This retrospective study aims to assess the efficacy of open-ended urethral catheters with 2 side holes in mitigating catheter obstruction in pediatric patients following hypospadias repair.

Materials and methods: The clinical data of pediatric patients who underwent hypospadias repair surgery from January 2021 to October 2023 were retrospectively collected. The patients were divided into 2 groups. Those who used standard Foley catheters were referred to as Group A, while those who used modified open-ended catheters were referred to as Group B. The primary outcome was the incidence of catheter obstruction within 7 days postoperatively.

Results: A total of 297 patients were included in this study, with 142 patients in Group A and 155 patients in Group B. In Group A, there were 12 cases of catheter obstruction, with 10 cases resolved through irrigation and 2 cases requiring additional catheters insertion by suprapubic bladder punctures. In Group B, only 4 cases experienced catheter obstruction, which were effectively and easily resolved through maneuver irrigation. The incidence of catheter obstruction in Group B was statistically significantly lower than that in Group A (2.6% vs. 8.5%, p < 0.05).

Conclusion: In pediatric hypospadias patients who underwent surgical repair, the use of open-ended urethral catheters with 2 side holes significantly diminishes the incidence of postoperative catheter obstruction. This simple technique is worthy of promotion.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the ABCA12 gene. Milder forms like LI and CIE usually involve at least one non-truncating ABCA12 variant.

Methods: Whole-exome sequencing (WES) was performed on fetal and parental DNA, and ABCA12 gene variants were validated by Sanger sequencing. The functional effect of the novel variant c.7104 + 6T > A was evaluated using an in vitro minigene system, with splicing analysis conducted via PCR and Sanger sequencing.

Results: A compound heterozygous variation in the ABCA12 gene, comprising c.5784G > A (p.W1928*) and c.7104 + 6T > A, was identified in the fetus, inherited from the father and mother, respectively. According to ACMG guidelines, the c.7104 + 6T > A variant is classified as a Variant of Uncertain Significance (VUS). Computational predictions suggested that this variant affects splicing. A minigene assay further confirmed that the c.7104 + 6T > A variant in ABCA12 leads to two types of aberrant mRNA splicing: a 69-base pair deletion (c.7036_7104del, p.Val2346_Glu2368del) and skipping of Exon 47, both of which result in a premature stop codon and a truncated protein.

Conclusion: In conclusion, this study identified a novel genetic variant, c.7104 + 6T > A in ABCA12, as the cause of ARCI in a fetus, thereby enriched the known ABCA12 mutation spectrum.

Background: Vesicoureteral reflux (VUR) is a common pediatric urological condition associated with renal scarring, hypertension, and chronic kidney disease. Contrast-enhanced voiding urosonography (ceVUS) has emerged as a promising technique for diagnosing and evaluating VUR, with intrarenal reflux (IRR) often detected using this method. This study aimed to explore the relationship between different VUR grades and IRR on ceVUS, and assess the impact of VUR and IRR on kidney size and function.

Methods: We reviewed all ceVUS studies from January 2019 to December 2023 conducted at West China Hospital, Sichuan University. Both video clips and digital images of the ceVUS examinations were recorded. A total of 220 uretero-renal units (URUs) of 110 children (67 males and 43 females) were included in this study.

Results: Among the 220 URUs assessed, 134 were diagnosed with VUR, and 25 exhibited IRR, with IRR exclusively observed in patients with grade II VUR or higher. Upon age and sex matching, the severity of IRR showed a significant positive correlation with high-grade VUR (P < 0.001). Notably, patients with high-grade VUR and IRR displayed reduced kidney size compared to those without VUR or IRR (P < 0.05). Furthermore, patients with high-grade VUR and IRR had reduced DMSA renal function (P = 0.015, P = 0.012, respectively), and patients with high-grade VUR had more DMSA scars (P = 0.027), compared with those without VUR or IRR.

Conclusion: Our study highlights that on ceVUS, the IRR degree was associated with the high-grade VUR, along with reductions in kidney size and renal function in patients with high-grade VUR and IRR.

Purpose: This study aims to summarize the characteristics of children under three years old (≤3 years) with central nervous system (CNS) tumors and to investigate the factors that influence their overall survival (OS) time.

Methods: We treated 171 pediatric patients (≤3 years) with CNS tumors at Yuquan Hospital of Tsinghua University from January 2016 to June 2023. Of these, 162 cases were successfully followed up. Kaplan-Meier survival analysis and Cox regression were utilized to evaluate factors potentially influencing OS of malignancies.

Results: There was a male predominance among the patients. The three most common tumors were embryonal tumors, gliomas, and craniopharyngiomas. Gross total resection (GTR) was achieved in select cases. Patients with high-grade malignancies were advised to undergo chemotherapy and/or radiotherapy after surgery. Optic gliomas and diffuse midline gliomas were partially resected and treated with adjuvant treatments. The median survival time of low-grade malignant tumors was 41.5 months, while that of high-grade malignant tumors was 15 months. Kaplan-Meier survival analysis identified the factors potentially influencing OS of malignancies: extent of resection, CNS WHO grade, grade of malignancies, and Ki-67 labeling index (Ki-67 LI). Subsequent multivariate analysis highlighted the interactive factor (extent of resection × CNS WHO grade) along with Ki-67 LI, as the most significant variables. Factors such as sex, age, tumor location, and onset-to-treatment time appeared not to affect OS.

Conclusions: GTR remains the cornerstone of treatment for children (≤3 years) with CNS tumors, except for optic glioma, diffuse midline glioma, and germinoma. The interactive factor (extent of resection × CNS WHO grade) and Ki-67 LI are the most significant factors affecting OS. The implementation of preoperative neoadjuvant chemotherapy and early postoperative chemotherapy may enhance prognosis.

The General Movement Assessment (GMA) is a validated evaluation of brain maturation essential to shaping early individual developmental trajectories of preterm infants. To ensure a reliable GMA, preterm infants should be recorded for 30 to 60 min before manually selecting at least three sequences with general movements. This time-consuming task of manually selecting short video sequences from lengthy recordings impedes its implementation within the Neonatal Unit. Moreover, an accurate pose estimation tool for preterm infants is paramount to developing the field of GMA automation. We introduce the AGMA Pose Estimator and Sequence Selector (AGMA-PESS) software, based on the state-of-the-art deep learning infant pose estimation network, to automatically select the video sequences for GMA at preterm and writhing ages and estimate the pose of infants in 2D. Its simplicity and efficiency make AGMA-PESS a valuable tool to promote GMA use within the Neonatal Unit, both for clinical practice and research purposes.

Introduction: Monitoring the morphological features of the gestational sac (GS) and measuring the mean sac diameter (MSD) during early pregnancy are essential for predicting spontaneous miscarriage and estimating gestational age (GA). However, the manual process is labor-intensive and highly dependent on the sonographer's expertise. This study aims to develop an automated pipeline to assist sonographers in accurately segmenting the GS and estimating GA.

Methods: A novel dataset of 500 ultrasound (US) scans, taken between 4 and 10 weeks of gestation, was prepared. Four widely used fully convolutional neural networks: UNet, UNet++, DeepLabV3, and ResUNet were modified by replacing their encoders with a pre-trained ResNet50. These models were trained and evaluated using 5-fold cross-validation to identify the optimal approach for GS segmentation. Subsequently, novel biometry was introduced to assess GA automatically, and the system's performance was compared with that of sonographers.

Results: The ResUNet model demonstrated the best performance among the tested architectures, achieving mean Intersection over Union (IoU), Dice, Recall, and Precision values of 0.946, 0.978, 0.987, and 0.958, respectively. The discrepancy between the GA estimations provided by the sonographers and the biometry algorithm was measured at a Mean Absolute Error (MAE) of 0.07 weeks.

Conclusion: The proposed pipeline offers a precise and reliable alternative to conventional manual measurements for GS segmentation and GA estimation. Furthermore, its potential extends to segmenting and measuring other fetal components in future studies.