BMC Pediatrics最新文献

Background: Soft tissue tumors (STTs) in adolescents are relatively rare, and their characteristics and behavior have not been well studied in this age group. The aim of this study was to describe the clinicopathologic patterns of STTs in adolescents aged 10-19 years according to the 2020 WHO classification.

Method: A 10-year retrospective cross-sectional study of 632 surgical samples from adolescents was conducted at a tertiary health facility to determine the frequency, histological patterns and characteristics of STTs in this population. The data were analyzed via SPSS 23.

Results: STTs accounted for 12.5% of all histologically diagnosed lesions in adolescents, with a mean age of 15 ± 2.9 years, 54.4% occurring in females and 35.4% in middle adolescents. The majority (64.56%) of STTs were benign, while malignant and intermediate-grade neoplasms accounted for 25.32% and 10.13%, respectively. Vascular tumours were the most common, followed by adipocytic and fibroblastic/myofibroblastic tumours, with hemangiomas being the most common. The most prevalent symptom was a painless mass (82.3%), with the head and neck (25.3%) being the most commonly involved body site. Most of the STTs patients presented within the first two years of occurrence (36.7%, n = 29/79). However, age, age group and sex were not significantly associated with the WHO grades of these STTs.

Conclusion: This study provided valuable insights into the characteristics and behavior of STTs in adolescents, highlighting the importance of early diagnosis and management. These findings suggest that adolescent STTs affect females more than males , involve the head and neck more and are more benign, with vascular tumours being the most common type of STT in this age group.

The purpose of this study was to predict an academic achievement model based on cardiorespiratory fitness (CRF) and body mass index (BMI) in ninth-graders. The study sample included 6 530 adolescents from 341 public schools in Slovakia. Criterion-referenced competency tests measuring academic performance in mathematics and mother language (Slovak), CRF, and BMI were assessed in the academic year 2022-2023. The results from the Random Forest Regression (RFR) machine learning algorithm suggest that adolescents who meet the international CRF and BMI criterion-referenced standards have a higher probability of getting a higher academic achievement score than unfit students with overweight or obesity. The chances of achieving the highest level of academic performance rose by 165% in mathematics and by 484% in mother language for boys who were fit and of normal weight compared to unfit boys with obesity. Unfit boys with obesity and unfit overweight girls had significantly lower odds of having the highest level of academic achievement compared to fit and normal-weight adolescents in mathematics (OR = 0.38; 95% CI, 0.20-0.71; p = 0.003; OR = 0.32; 95% CI, 0.18-0.55; p < 0.001) and mother language, respectively (OR = 0.17; 95% CI, 0.09-0.34; p < 0.001; OR = 0.17; 95% CI, 0.08-0.38; p < 0.001). Our results suggest that CRF is a significant predictor, with fit and normal-weight boys showing higher odds of better academic performance, but the model's modest predictive power suggests other factors also play a role.

Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.

Case presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.1) and other conventional approaches including chromosomal microarray analysis and whole exome sequencing were failed to detect any pathologic variants that can explain the phenotypes of the proband. Subsequently, long-read Nanopore sequencing was directly conducted and defined the breakpoint position of the inversion, disrupting the MEIS2 gene at intron 8. These breakpoints were also confirmed by Sanger sequencing.

Conclusions: In conclusion, we report the first chromosomal inversion disrupting the MEIS2 gene, which was fine-mapped by long read Nanopore sequencing. Our data not only expand the clinical spectrum of MEIS2-caused syndromic developmental delay, but also illustrate the value of long-read sequencing in elucidating the precise genetic etiology of patients with relatively nonspecific clinical findings and chromosomal inversion that are beyond the resolution of conventional approaches.

Preterm infants are at high risk of developing respiratory distress syndrome (RDS). Mutations in the genes encoding for surfactant proteins B and C or the ATP-binding cassette transporter A3 (ABCA3) are rare but known to be associated with severe RDS and interstitial lung diseases. The exact prevalence of these mutations in the general population is difficult to determine, as they are usually studied in connection with clinical symptoms. Most cases are not captured due to variability in expression or diagnosis. It is estimated that they affect a small percentage of the population, with mutations in ABCA3 most commonly identified in association with severe lung diseases in newborns. Even heterozygous ABCA3-mutations can increase the risk and severity of RDS in neonates. The expression of these proteins is developmentally regulated, increases with gestational age, and is crucial for the function of pulmonary surfactant at birth. Additional lung stressors, such as meconium aspiration syndrome or pulmonary infections, can lead to a complex clinical picture associated with severe courses. This case report describes an extremely preterm female infant with suspected meconium aspiration syndrome, severe RDS, Mycoplasma pneumoniae infection, and a heterozygous ABCA3-mutation. The report discusses the clinical presentation, diagnostic evaluation, and therapeutic interventions, emphasizing the complexities associated with multiple pulmonary conditions in the context of extreme prematurity. At the limits of viability, therapeutic options for severe respiratory insufficiency are limited compared to older children. The developmental neurological prognosis following prolonged relative hypoxia is a crucial factor to consider in discussions about changing treatment goals. Particularly in severe cases, pulmonary infections and genetic changes in surfactant metabolism must be considered in newborns with RDS.

Background and objectives: Obese and overweight children and adolescents exhibit significant deficits in inhibitory function compared to their typical-weight peers. There is a high variability in the effectiveness of exercise interventions on inhibitory function in obese and overweight children and adolescents, and clinical protocols lack consistency. This study aims to systematically review the effects of exercise interventions on inhibitory function in obese and overweight children and adolescents.

Methods: A systematic search was conducted on Web of Science, PubMed, Cochrane Library, EBSCO, WanFang Database, and China Knowledge Resource Integrated Database (CNKI) to gather randomized controlled trials (RCTs) examining the impact of exercise interventions on inhibitory function in obese and overweight children and adolescents. The search covered publications from January 2000 to January 8, 2024. Two researchers independently conducted a meta-analysis, screening the literature, extracting information, and assessing the methodological quality of the included studies.

Results: The analysis included 24 randomized controlled trials (RCTs) with a total of 1,247 participants. The meta-analysis showed that post-intervention improvements in inhibitory function were significantly greater in the experimental group compared to the control group (SMD = -0.65, 95% CI = -1.01 to -0.29, p < 0.01), indicating a medium effect size. Subgroup analyses indicated that open motor skills (SMD = -0.73, 95% CI = -1.20 to -0.27, p < 0.01), moderate intensity (SMD = -0.80, 95% CI = -1.37 to -0.23, p < 0.01), and long-term regular exercise (SMD = -1.04, 95% CI = -1.47 to -0.62, p < 0.01) were significantly more effective than controls in improving inhibitory function. Both small exercise (SMD = -1.60, 95% CI = -2.25 to -0.94, p < 0.01) and large exercise volume (SMD = -0.85, 95% CI = -1.33 to -0.37, p < 0.01) outperformed the control group. Additionally, Stroop, Flanker, and Go/No-go tasks (SMD = -0.88, -0.62, 0.73, 95% CI = -1.43 to -0.32, -1.09 to -0.15, 0.20 to 1.25, p < 0.01) effectively assessed inhibitory function in obese and overweight children and adolescents.

Conclusion: Exercise can improve the inhibitory function of obese and overweight children and adolescents. The effectiveness of this intervention is influenced by exercise type, intensity, and duration. Long-term regular exercise involving open motor skills and moderate intensity yields better results in enhancing the inhibitory function of obese and overweight children and adolescents.

Systematic review registration: The protocol of this systematic review was registered with INPLASY. The protocol ID was INPLASY202450061.

Background: Depression commonly arises among adolescents who have experienced long-standing psychosocial difficulties, especially those facing chronic illnesses such as sickle cell anemia (SCA). SCA is a global health concern, and Tanzania is one of the countries with a high incidence, estimated at 8,000-11,000 births per year. This study aims to assess the magnitude and factors associated with depression among adolescents with SCA.

Methodology: A cross-sectional analytical study was conducted on adolescents aged 10-19 years attending sickle cell clinics in referral hospitals in Dar-es-Salaam, Tanzania, from October 2023 to March 2024. Socio-demographic and SCA severity data were collected using pre-structured and pre-tested questionnaires. A validated Patient Health Questionnaire (PHQ-9) tool was used to screen for depression. Univariate and multivariate regression models were used to determine factors associated with clinical depression. A P value of less than 0.05 was considered statistically significant.

Results: Among the 326 adolescents enrolled and screened, 49 adolescents (15%) had clinical depression, encompassing those in the moderate, moderately severe, and severe depression categories. Overall 216 (53.7%) adolescents exhibited varying degrees of depression, ranging from mild to severe. Specifically, 167 participants (38.7%) had mild depression, 44 (13.5%) had moderate depression, 4 (1.2%) had moderately severe depression, and 1 (0.3%) had severe depression. Painful episodes within the previous 12 months were significantly associated with clinical depression (aOR = 2.49) (95% CI: 1.17-5.29, p = 0.01).

Conclusion: Depression is common among adolescents with SCA in our setting. Painful episodes experienced within the previous 12 months were significantly associated with clinical depression. This study highlights the need to screen adolescents with SCA for depression and integrate mental health services in sickle cell clinics.

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited ion channelopathy characterized by a structurally normal heart sensitive to catecholamines. It primarily presents as Bidirectional ventricular tachycardia (BiVT) and is a significant cause of sudden cardiac death in children.

Case presentation: We report our experience with central Extracorporeal Membrane Oxygenation (ECMO) therapy in a 4-year-old boy with CPVT. Despite these measures, his CPVT was refractory to standard medical treatment and mechanical ventilatory support, with symptom progression. Consequently, ECMO support was initiated in addition to existing treatment. The patient was successfully weaned off ECMO on the 10th day of therapy and was discharged in a good condition. Follow-up after discharge showed favorable outcomes.

Conclusions: The successful outcome in this case was attributed to the application of ECMO, which helped maintain the patient's circulatory status and address progressively worsening cardiogenic shock and uncontrolled ventricular arrhythmia. In such situations, the early use of ECMO can provide essential circulatory support and stability for patients, as demonstrated in this case.

Objective: This study aims to analyze the epidemiological characteristics and clinical features of childhood malignant solid tumors in a single center in southwest China, thereby providing a reliable basis for formulating prevention and control strategies and rational allocation of resources for these tumors.

Methods: Children less than 15 years old and under-diagnosed with malignant solid tumors for the first time at Children's Hospital of Chongqing Medical University (Children's Medical Center of Southwest China) from 2000 to 2023 were selected. They were classified according to the International Classification of Childhood Cancer, Third Edition (ICCC-3). A retrospective analysis was conducted on the disease spectrum composition and trends, distribution among different age groups and genders, and hospitalization characteristics of the patients.

Results: Over 24 years, there were a total of 4,777 cases of initial diagnosis of childhood malignant solid tumors, with a male-to-female ratio of 1.33:1. The median age was 4 years old, with 12.6% in the 0-year-old group, 41.6% in the 1 to 4-year-old group, 27.3% in the 5 to 9-year-old group, and 18.5% in the 10 to 14-year-old group. The top 3 malignant solid tumors by incidence rate were central nervous system (CNS) tumors (21.8%), neuroblastoma (17.8%), and lymphoma (13.9%). The ratio of pediatric malignant solid tumor patients to total hospital admissions rose from 0.14% in 2000 to 0.52% in 2021 but showed a declining trend after 2021. Childhood malignant solid tumors were primarily diagnosed due to the discovery of mass/occupancy (34.9%), abdominal pain/bloating (21.1%), or fever (6.3%). 74.4% of neuroblastomas and 54.7% of nephroblastomas were diagnosed at an advanced stage. 84.4% of patients underwent surgery, and 71.9% received chemotherapy, with chemotherapy rates showing an upward trend.

Conclusions: This study provides reliable information on the incidence characteristics and trends of childhood malignant solid tumors.