Frontiers in Pediatrics最新文献

Background: Congenital heart disease (CHD) in pediatric patients requires comprehensive care to address complex medical and psychological needs. Traditional approaches may lack the structure and coordination to optimize recovery fully. This study evaluates the association of Bundled Care Interventions, a structured multidisciplinary approach, in improving clinical outcomes and quality of life in pediatric CHD patients.

Materials and methods: A retrospective evaluation was conducted at our hospital from January 2021 to December 2023. Pediatric patients (n = 136) under 14 years of age diagnosed with CHD were included, with 70 receiving Bundled Care Interventions (observation group) and 66 receiving conventional care (control group). The bundled care model included preoperative education, optimized intraoperative management, personalized postoperative rehabilitation, home-based care, and medication management. Primary outcome measures included oxygenation status, quality of life, adverse events, and complications. Statistical analyses were performed using independent t-tests and chi-square tests.

Results: Patients in the Bundled Care Interventions group showed significant improvements in oxygenation (PaO₂ and FiO₂; p < 0.001) and quality of life across all dimensions (p < 0.001) compared to the control group. Additionally, adverse event incidence was lower in the observation group (4.29% vs. 15.2%; p = 0.031), as was the incidence of postoperative complications (5.71% vs. 18.2%; p = 0.024).

Conclusions: Bundled Care Interventions might improve oxygenation levels, enhance quality of life, and reduce adverse events and complications in pediatric CHD patients. This structured, multidisciplinary approach could offer a promising model for optimizing clinical outcomes and supporting comprehensive rehabilitation in this vulnerable population.

Background: Currently, tics and Tourette's disorder are burdensome neurological disorders that manifest in vocal and motor tics with onset during childhood. Previous studies have demonstrated that maternal autoimmune diseases may cause several neurodevelopmental disorders in offspring via maternal immune activation. However, the association between them has never been thoroughly researched. Thus, in this study, we aimed to explore whether maternal autoimmune diseases are associated with the risk of tics and Tourette's disorder in offspring in a real-world nationwide population-based cohort study.

Methods: We analyzed offspring with or without autoimmune disease exposure between 2009 and 2016 from national population databases in Taiwan. Multivariate analysis, multiple Cox regression analyses, and stratified analyses were conducted in the study.

Results: In total, 76,411 offspring with autoimmune disease exposure and 1,211,936 offspring without maternal autoimmune disease exposure were selected and analyzed in this study. The incidence of childhood tics and Tourette's disorder was 2.35 [95% confidence interval (CI) 2.23-4.86] and 1.89 (95% CI 1.86-1.92) per 10,000 person-months in children exposed to maternal autoimmune disease and non-exposed children, respectively. The children whose mothers had an autoimmune disease had a 1.26-fold risk of tics and Tourette's disorder compared to children whose mothers did not have an autoimmune disease [crude hazard ratio: 1.26; 95% CI, 1.20-1.34, adjusted hazard ratio (aHR): 1.22; 95% CI, 1.15-1.29]. Offspring of mothers with rheumatoid arthritis (aHR: 1.46, 95% CI, 1.07-1.97), system lupus erythematosus (aHR: 1.57, 95% CI, 1.18-2.09), Sjogren's syndrome (aHR: 1.28, 95% CI, 1.09-1.50), ankylosing spondylitis (aHR: 1.49, 95% CI, 1.07-2.09), Graves' disease (aHR: 1.26, 95% CI, 1.15-1.37), Hashimoto's thyroiditis (aHR: 1.59, 95% CI, 1.29-1.98), and type I diabetes (aHR: 1.68, 95% CI, 1.13-2.50) had a significantly higher risk of developing tics and Tourette's disorder. Aside from maternal autoimmune diseases, mothers with urinary tract infections, diabetes mellitus, hyperlipidemia, anemia, a sleep disorder, endometriosis, and depression were also associated with childhood tics and Tourette's disorder.

Conclusion: Maternal autoimmune diseases appeared to be associated with tics and Tourette's disorder in offspring, especially in mothers with the abovementioned diseases. Further research is warranted to investigate the possible pathogenetic mechanisms of these associations.

Kawasaki disease, a common cause of acquired heart disease in children, can lead to long-term cardiovascular complications such as coronary aneurysms and stenosis. This case describes a 17-year-old male with a past medical history of Kawasaki disease at ages 3 and 8, treated with IV immunoglobulin leading to a moderate right coronary aneurysm, who presented for a cardiac check-up. He reports only a slight dyspnoea on exertion and atypical chest pain. Despite normal findings on routine ECG and exercise tests, advanced imaging revealed significant coronary stenosis requiring angioplasty. This highlights the limitations of standard diagnostic modalities and underscores the importance of multimodal imaging and tailored management strategies in such patients.

Background: Cowden syndrome (CS) is a complex and rare hereditary disorder characterized by a high risk of developing both benign and malignant tumors. Germline variants in the PTEN gene lead to this autosomal dominant syndrome, which predisposes individuals to lesions of the skin and mucous membranes, as well as breast, thyroid, endometrial, and kidney cancers. Early identification of symptoms is essential for implementing effective therapeutic strategies, especially in managing thyroid cancer risk.

Case presentation: During a tonsillectomy in an 8-year-old boy, the surgeon incidentally noted a left lateralized thyroid swelling. The clinical picture of Cowden syndrome was further supported by the presence of macrocephaly and intellectual disability since birth along with rare and atypical thyroid disorder marked by a toxic adenoma. Genetic analysis of both the tissue and blood samples confirmed the diagnosis. The clinical manifestation of thyroid issues in a young child may indicate CS, a condition that is often poorly assessed by clinicians. Family history revealed that the boy's father and sister also carry the same heterozygous variant, presenting a spectrum of Cowden syndrome manifestations.

Conclusion: Molecular analysis of the PTEN gene should be considered in young patients with thyroid nodules or nodules associated with abnormal thyroid function test, even without clear evidence of Cowden syndrome, particularly if there is a family history of thyroid, breast, or hamartoma-related conditions.

Neonatal lupus erythematosus (NLE) is a rare autoimmune disorder characterized by cutaneous and/or cardiac manifestations resulting from the transplacental passage of maternal antibodies, including anti-SSA/Ro, anti-SSB/La, and occasionally anti-U1RNP. This report describes two siblings with distinct NLE presentations, emphasizing the importance of early diagnosis and management, particularly in light of the rising rates of multiple births. A 15-day-old girl (Case 1) presented with classic annular skin lesions and strongly positive SSA and SSB antibodies. Six years later, her brother (Case 2) developed atypical red papules with similar serologic findings. Their mother, diagnosed with Sjögren's syndrome after the first child's (Case 1) presentation, demonstrated suboptimal treatment adherence, which may have contributed to the occurrence of NLE in her second child (Case 2). Neither sibling exhibited systemic involvement, including cardiac manifestations; however, regular monitoring remains essential. These cases highlight the variable NLE phenotype, even within families. In pregnancies with SSA/SSB antibody positivity, close monitoring of antibody titers, electrocardiograms (ECGs), and echocardiograms is paramount for early NLE detection and optimal management, especially given inconsistent maternal treatment. These cases underscore the need for heightened vigilance and proactive strategies in high-risk pregnancies.

Background: Cesarean section is a common surgical procedure, usually performed under neuraxial anesthesia and, more rarely, under general anesthesia. The choice of anesthesia in cesarean sections can significantly influence neonatal outcomes, especially in urgent and emergency cases. Previous studies have shown mixed results, often confounded by the inclusion of both elective and emergency cesarean section cases, varying statistical methods, and a focus solely on resuscitation immediate-term neonatal outcomes.

Objective: This study aims to use robust statistical methods to evaluate the impact of anesthesia type on immediate and longer-term neonatal outcomes in urgent and emergency cesarean section cases, where additional detrimental factors might influence this relationship.

Methods: We analyzed 395 women who underwent non-elective cesarean sections between 2021 and 2023. Inverse probability of treatment weighting (IPTW) served to focus on the role of anesthesia type eliminating confounding variables effect, in simulated randomized controlled trial conditions.

Results: General anesthesia increases odds of neonatal resuscitation (OR 6.1, p < 0.001), NICU admission (OR 1.8, p: 0.04), and a 15% lower Apgar score at 1 min (p: 0.02). General anesthesia also increased NICU admission rate for respiratory insufficiency (OR 7.6, p < 0.001), the need for oxygen (OR 4.8, p: 0.003) and CPAP (OR 3.6, p < 0.001) in NICU. Negative controls and consistent sensitivity analyses further validated the robustness of our findings.

Conclusion: General anesthesia in non-elective cesarean sections is associated with worse neonatal outcomes, extending beyond the resuscitation phase to sustained NICU morbidity. Our study provides novel insights into the specific neonatal resuscitation maneuvers required when general anesthesia is used, enhancing clinicians preparedness for managing high-risk deliveries. These findings underscore the critical importance of anesthesia choice, advocate for the preference of neuraxial techniques, and highlight the need for further research into long-term neonatal outcomes.

Background and aims: Early identification of fulminant myocarditis (FM) is the key to reducing mortality, but there is still a lack of effective biomarkers for diagnosis. The aim of this study was to investigate the value of soluble ST2 (sST2) in identifying FM in children.

Methods: This was a single-center clinical observational study. We consecutively enrolled 144 children younger than 14 years of age diagnosed with viral myocarditis between January 2018 and November 2023, of whom 63 were diagnosed with FM.

Results: The sST2 level in the FM group was significantly higher than that in the non-FM group [104.40 (68.80, 150.10) vs. 38.30 (19.85, 55.05), p < 0.001]. ROC curves showed that the optimal cut-off values of sST2, TNI, NT-proBNP and CRP for FM were 63.8 ng/ml, 13.3 ng/ml, 3182 pg/ml and 26.5 mg/L, respectively. The sensitivity and specificity of sST2 were 84.13% and 88.9%, indicating the highest early diagnosis efficiency. Multifactorial correction showed that sST2 ≥ 63.8 ng/ml and NT-proBNP ≥ 3182 pg/ml were independent diagnostic predictors of FM (OR = 22.374, 95% CI: 8.140 ∼ 61.499, P < 0.001), and (OR = 3.208, 95% CI: 1.163 ∼ 8.846, P = 0.024).

Conclusions: With high sensitivity and specificity, sST2 may serve as a strong predictor of pediatric FM.

Background: Type 1 diabetes mellitus (T1DM) is common in adolescents and negatively affects their quality of life and mental health. This study examines the impact of family environment on mental disorders and quality of life in adolescents with T1DM and analyzes related intervention policies.

Methods: A retrospective analysis was conducted on 75 adolescents with T1DM admitted between October 2020 and December 2023, with 75 healthy adolescents as a control group. Assessments included SCARED, DSRSC, FES, SCL-90, and PedsQL 4.0. Correlation analysis explored the relationships between family environment, anxiety, depression, quality of life and glycosylated haemoglobin (HbA1C).

Results: Significant differences (P < 0.05) were found between the T1DM and control groups in family conflict, independence, harmony, and emotional expression. The T1DM group had higher anxiety, depression, and poorer quality of life. Family cohesion was negatively correlated with mental state, anxiety, depression, and HbA1C, while emotional expression was positively correlated with role functioning.

Conclusion: The family environment significantly impacts the mental health and quality of life of adolescents with T1DM. Enhancing emotional expression and family cohesion can improve outcomes, highlighting the need for targeted interventions.

Adams-Oliver syndrome is a rare congenital disorder with six subtypes that have been identified. Subtypes 1, 3, 5, and 6 have an autosomal dominant inheritance pattern, whereas subtypes 2 and 4 have an autosomal recessive inheritance pattern. The clinical phenotype of Adams-Oliver syndrome is heterogeneous and can be accompanied by abnormalities in other organs, especially the cardiovascular system, such as cutis marmorata telangiectatica congenita, pulmonary hypertension, vascular abnormalities in other organs, and congenital heart defects. Herein, we report a case of Adams-Oliver syndrome caused by a de novo variant in DLL4. The patient was a neonate with clinical manifestations of skin defects who was diagnosed with Adams-Oliver syndrome on the basis of genetic testing.

Background: With increased survival of infants born with esophageal atresia (EA), there is a knowledge gap regarding neurodevelopmental outcomes. We aimed to quantify the frequency of (1) documented developmental delay, and (2) implementation of early intervention services in the first and the second year of life following repair of short- and long-gap EA.

Method: We retrospectively analyzed term-born (n = 44) and premature infants (n = 26) following EA repair at a single institution (2009-2020). Infants with anomalies associated with known neurological disorders were excluded. Clinical data was obtained from the electronic medical record, and presented as means and percentages. Developmental delay included clinically documented motor, speech/language, and cognitive delays that were stratified according to a surgical group: short- and long-gap EA.

Results: Nearly half of short-gap (24/54; 44%) and most of long-gap EA patients (12/16; 75%) had documented developmental delay in the first year of life that persisted into the second year of life [52% [28/54] short-gap; 69% [11/16] long-gap EA]. Developmental delay was noted irrespective of gestational age at birth, co-existing cardiac anomalies, or presence of cranial/brain findings on imaging. By age 2, 70% (38/54) of short-gap and 69% (11/16) of long-gap EA patients had received early intervention.

Interpretation: Infants born with EA are at high-risk for developmental delay. Early neurodevelopmental assessments and intervention is recommended for EA patients.