Frontiers in Pediatrics最新文献

Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.

Case presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported.

Conclusions: Considering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations.

Background: This study aimed to assess the diagnosis of macrophage activation syndrome (MAS) at the onset of active childhood-onset systemic lupus erythematosus (cSLE), which is under-researched, and to compare the characteristics of cSLE with and without MAS, hypothesizing the existence of possible predictors of MAS in active cSLE.

Methods: This study enrolled 157 patients diagnosed with cSLE, with or without MAS, from Nanjing Medical University between January 2018 and May 2023. Data analysis was performed using an independent samples t-test or the Mann-Whitney U-test, the χ ² test, the Youden index to determine the optimal cutoff values for diagnosis, and binary logistic regression analysis to determine the predicted probability.

Results: Fifteen patients (9%) had MAS in the active phase, with an SLE disease activity index of 16.6 (range, 6-32). Bone marrow aspirations revealed hemophagocytosis in 8/15 cases (53%). Fever was the most common feature of MAS patients. Lactate dehydrogenase (LDH) and ferritin levels were elevated in the patients. Lower leukocyte, neutrophil, and platelet counts, including serum sodium and fibrinogen, and increased alanine aminotransferase, aspartate aminotransferase (AST), lactate dehydrogenase (LDH), ferritin, triglyceride, and D-dimer levels occurred in MAS patients, unlike those without MAS. Optimal cutoff values for ferritin (≥607.35 ng/ml), LDH (≥424 U/L), and AST (≥61 U/L) were predictors of MAS occurrence in cSLE. No MAS patients experienced recurrence during an 18-month mean follow-up.

Conclusions: Despite the narrow scope of the study, elevated levels of ferritin, LDH, and AST may represent indicators of cSLE complicated by MAS. Early diagnosis and treatment may improve outcomes.

It is estimated that 1%-2% of pregnancies are complicated by fetal arrhythmias, with most arrhythmias considered benign and not requiring further treatment or intervention. However, persistent tachyarrhythmias can lead to fetal heart failure, preterm birth, stillbirth, and increased risks during the perinatal period. Therefore, timely treatment during pregnancy is often necessary. Currently, prenatal treatment for fetal tachyarrhythmias (FTs) is primarily drug based, aiming to restore normal fetal heart rate, prevent or reverse fetal heart failure, and avoid adverse outcomes such as preterm birth and stillbirth. Despite decades of clinical experience, the lack of prospective, multicenter randomized clinical trials on the safety and efficacy of drugs means that there is still no universally accepted prenatal treatment regimen for FTs, and treatment relies on series of observational studies or clinical cases. Moreover, all drug treatments carry potential risks to the mother, fetus, and pregnancy, hence the need for more clinical diagnostic and therapeutic experience to provide more clinical evidence for prenatal treatment of FTs.

Objective: The objective of this research was to examine the features and potential hazards of sedation in children of varying ages. Additionally, the study aimed to comprehend these variations to enhance the safety and efficacy of clinical applications.

Methods: A retrospective analysis was conducted on case data involving pediatric patients who underwent imaging procedures in outpatient settings and necessitated procedural sedation from 2022 to 2024. The research participants were categorized into three age groups: ≤1 year, 1-3 years, and 3-12 years. The primary sedative agents administered were oral midazolam in conjunction with intranasal dexmedetomidine. We examined the effects of sedation and the occurrence of adverse events across various age groups. Additionally, we applied multivariate logistic regression to identify factors linked to these adverse events.

Results: The study observed 2,194 children, with 879 (40.1%) being ≤1-year-old. The ≤1-year-old group achieved faster sleep onset at 18.7 ± 0.3 min, with no significant variance in awakening time and length of stay among the groups. The incidence of adverse events varied significantly by age, with the highest rate of 12.2% in the ≤1-year-old group and the lowest rate of 9.7% in the 3-12-year-old group. Multivariate analysis revealed age as an independent factor affecting adverse event occurrence, with a relative risk ratio (AOR) of 2.21 (95% CI: 1.31-3.75) for delayed awakening in children ≤1-year-old, 15.03 (95% CI: 1.92-117.61) for hypoglycemia, and a relative risk ratio (AOR) of 4.58 (95% CI: 2.22-9.42) for receiving a significant intervention.

Conclusions: Significant variations in sedation reactions and adverse events were observed across the different age groups. Specifically, children aged ≤1 year exhibited a higher susceptibility to adverse events such as delayed awakening and hypoglycemia.

Clinical trial registration: chictr.org.cn identifier (ChiCTR2400082774).

Background: Early life infections (ELIs), encompassing both viral and bacterial types, occur within the first six months of life. Influenced by genetic host factors and environmental conditions, the relationship between ELIs and subsequent allergic manifestations, particularly cow's milk protein allergy (CMPA) and atopic dermatitis (AD), is complex and not fully understood.

Objective: The aim of the current study was to examine the potential interplay between nutrition, infections, and allergic manifestations in the first six months of life in infants with a family history of allergies, who were either exclusively breastfed (EBF) or fed a combination of breast milk and standard (SF) or partially hydrolyzed infant formula (pHF).

Methods: The Allergy Reduction Trial (ART) is a multicenter, randomized controlled trial involving 551 participants. From birth, these participants were divided into three groups: Exclusive Breastfeeding (EBF), Partially Hydrolyzed Formula (pHF), and Standard Formula (SF). ELIs, defined as viral and bacterial infections occurring during the first 6 months, and outcomes (AD, CMPA) were recorded through questionnaires (i.e., SCORAD and CоMiSS) and clinical assessments.

Results: The relative risk (RR) for CMPA in infants with ELIs was 0.20 (95% CI: 0.07-0.58), highlighting a protective effect of ELIs against CMPA development. Notably, the incidence of CMPA was significantly lower in infants who experienced ELIs compared to those without (3% vs. 13.4%, p = 0.001), with no cases of CMPA observed at 6 months in exclusively breastfed (EBF) infants with ELIs. For AD, a trend was observed where the incidence was lower in infants with ELIs who were fed with pHF at 6.5%, compared to those fed with SF at 18.2% (p = 0.092), suggesting a potential protective effect of ELIs in the pHF group against AD development.

Conclusion: The study highlights a potential protective role of ELIs in reducing the risk of CMPA, particularly in EBF infants. Furthermore, it suggests a trend towards lower AD incidence in infants fed with pHF, highlighting the complex interplay between early microbial exposures, feeding practices, and immune development. Further research is warranted to unravel this challenging relationship and appropriately inform early life allergy prevention strategies.

RHOBTB2 is a member of the Rho GTPases subfamily of signaling proteins, known tumor suppressors whose loss of function and decreased expression is associated with cancer onset. Beyond its cancer-related role, RHOBTB2 is implicated in rare neurodevelopmental disorders, specifically RHOBTB2-related disorders, recognized in 2018 as a subtype of developmental and epileptic encephalopathies (DEE). Common symptoms of these disorders include early-onset epilepsy, severe intellectual disability, microcephaly, and movement disorders. Few studies have investigated patient variants associated with RHOBTB2-related disorders, and the impact of these variants on protein function remains unclear. Limited research suggests that the accumulation of RHOBTB2 in neural tissues contributes to the development of DEE. Similarly, preclinical studies indicate that missense variants near or in the BTB domain of RHOBTB2 result in decreased degradation of RHOBTB2 and the onset of DEE, whereas variants in the GTPase domain cause more variable neurodevelopmental symptoms, but do not impair proteasomal degradation of RHOBTB2. However, the exact pathophysiological mechanisms are unclear and may differ across variants. Current treatment approaches for individuals with RHOBTB2-related DEE involve the use of antiseizure medications to decrease seizures; however, no treatments have been identified that address the other symptoms or the underlying pathophysiological mechanisms associated with these disorders. Overall, RHOBTB2 remains an understudied protein with limited information on its function and how it contributes to disease mechanisms. This review provides an overview of the current knowledge of RHOBTB2 function, with an emphasis on its association with neurodevelopmental disorders through an analysis of preclinical studies and case reports that link individual variants with clinical features.

Objective: Preschool children are in a period of rapid physical development, and improving their gross motor skills and physical fitness is quite important for their health. This study aimed to investigate the effectiveness of a structured physical training program in improving Chinese preschool children's gross motor development and physical fitness.

Method: A sample of 80 children aged 4 to 5 from Fujian, China, were randomly assigned to the intervention group (N = 41), which received a 15-week structured physical training, while the control group (N = 39) continued with their daily physical activity. The Test of Gross Motor Development-3, and the National Physical Fitness Measurement Standards Manual -Preschool Children Version (2003) were assessed before and after the intervention.

Results: A series of ANCOVA analyses revealed significant group differences in aspects of gross motor skills (F = 10.17, p < 0.01) including locomotor skills (F = 5.31, p < 0.05) and ball skills (F = 15.09, p < 0.001) after controlling the effect of the age, sex, and pre-test scores. Moreover, the results also indicated a higher improvement in young children's physical fitness (F = 91.33, p < 0.001) including their body shape (F = 5.05, p < 0.05), health-related fitness (F = 43.09, p < 0.001), and skill-related fitness (F = 61.47, p < 0.001) in the intervention group over the control group. The results demonstrated that the effect size of the structured training on young children's health-related fitness (η ² = 0.38) and skill-related fitness (η ² = 0.50) was much stronger than on children's body shape (η ² = 0.07).

Conclusion: The structured training program effectively improved young children's gross motor skills and physical fitness.

Objective: The aim of this research was to develop and internally validate a nomogram for forecasting the length of hospital stay following laparoscopic appendectomy in pediatric patients diagnosed with appendicitis.

Methods: We developed a prediction model based on a training dataset of 415 pediatric patients with appendicitis, and hospitalization data were collected retrospectively from January 2021 and December 2022. The primary outcome measure in this study was hospital length of stay (LOS), with prolonged LOS defined as admission for a duration equal to or exceeding the 75th percentile of LOS, including the discharge day. Risk factor analysis was conducted through univariate and multivariate logistic regression analyses. Based on the regression coefficients, a nomogram prediction model was developed. The discriminative performance of the predicting model was evaluated using the C-index, and an adjusted C-index was computed through bootstrapping validation. Calibration curves were generated to assess the accuracy of the nomogram. Decision curve analysis was conducted to determine the clinical utility of the predicting model.

Results: Predictors contained in the prediction nomogram included Age, neutrophil-to-lymphocyte ratio, C-reactive protein level, operative time, appendiceal fecalith, and drainage tube. The C-index of the prediction nomogram was determined to be 0.873 (95% CI: 0.838-0.908), with a corrected C-index of 0.8625 obtained through bootstrapping validation (1,000 resamples), indicating the model's favorable discrimination. Calibration curves illustrated a strong agreement between predicted and observed outcomes. According to the decision curve analysis of the nomogram, the predictive model demonstrates a net benefit at threshold probabilities exceeding 2%.

Conclusion: This nomogram, incorporating variables such as Age, neutrophil-to-lymphocyte ratio, C-reactive protein level, operative time, appendiceal fecalith, and drainage tube, offers a convenient method for assessing the duration of hospitalization in pediatric patients with appendicitis.

Background: Pediatric trauma is a major global health concern, accounting for a substantial proportion of deaths and disease burden from age 5 onwards. Effective triage and management are essential in pediatric trauma care, and prediction models such as the Trauma Injury Severity Score (TRISS) play a crucial role in estimating survival probability and guiding quality improvement. However, TRISS does not account for age-specific factors in pediatric populations, limiting its applicability to younger patients. This study aimed to modify TRISS to account for age for children (Peds-TRISS) and to evaluate its performance relative to the original TRISS. We also assessed survival outcomes to explore the model's potential utility across various clinical settings. These efforts align with quality improvement initiatives to reduce preventable mortality and supporting sustainable development goals.

Methods: This retrospective cohort study included patients under 18 years of age who were treated at a hospital in Colombia between 2011 and 2019. New coefficients for TRISS covariates were calculated using logistic regression, with age treated as a continuous variable. Model performance was evaluated based on discrimination (C statistic) and calibration, comparing Peds-TRISS with the original TRISS. Internal validation was conducted using bootstrap resampling. Survival outcomes were assessed using the M and Z statistics, which are commonly used for international trauma outcome comparisons.

Results: The study included 1,013 pediatric patients with a median age of 12 years (IQR 5-15), of whom 73% were male. The leading causes of injury were traffic accidents (31.1%), falls (28.8%), and assaults (28.7%). The overall mortality rate was 5.7%. The Peds-TRISS model demonstrated good calibration (HL = 9.7, p = 0.3) and discrimination (C statistic = 0.98, 95% CI 0.97-0.99), with no statistically significant difference in the ROC curve comparison with the original TRISS. Internal validation demonstrated strong performance of Peds-TRISS. The M and Z statistics were 0.93 and 0, respectively, indicating no significant differences between expected and observed survival rates.

Conclusions: Most fatalities occurred among adolescents and were due to intentional injuries. The Peds-TRISS model showed a partial improvement in performance compared to the original TRISS, with superior results in terms of calibration, although not in discrimination. These findings highlight the potential of model customization for specific populations. Prospective, multicenter studies are recommended to further validate the model's utility across diverse settings.

Background: Unilateral pulmonary artery discontinuity (UPAD) is a rare fetal abnormality, for which a prenatal ultrasonographic diagnosis remains challenging. We report a case of left pulmonary artery discontinuity in association with Taussig-Bing syndrome, which has rarely been reported in the literature thus far.

Case presentation: A pregnant woman with a fetus with congenital heart disease (CHD) at 23 weeks gestation was referred to our center. She denied any familial history of genetic disorders in either spouse, and non-invasive prenatal testing (NIPT) also showed a low risk of CHD for the fetus. An ultrasound examination revealed a complex cardiac malformation indicative of left pulmonary artery discontinuity originating from the ductus arteriosus with Taussig-Bing syndrome. The family eventually chose to terminate the pregnancy and agreed to an autopsy, which confirmed that the prenatal echocardiographic diagnosis was correct. In addition, in this report, we review and analyze 17 reported cases of prenatal echocardiographic diagnoses of UPAD.

Conclusions: UPAD is characterized by discontinuity between the proximal and distal pulmonary arteries, along with a ductal origin of the distal pulmonary artery. A discontinuous pulmonary artery originating from the ductus can be detected on prenatal sonography using ultrasound technology. The aim is to detect malformations earlier and carry out the necessary intervention measures as soon as possible.