Translational pediatrics最新文献

Background: Traumatic brain injury (TBI) is a leading cause of death and disability in children, yet the full impact on their primary caregivers remains largely uncharted. This study seeks to delineate the current scope of the caregiving burden and to identify the key determinants that shape it, aiming to enhance clinical interventions and caregiving approaches.

Methods: We conducted a comprehensive survey of primary caregivers of pediatric TBI patients admitted to a top-tier children's hospital in China, spanning the period from January 15 to November 15, 2023. The Zarit Burden Interview (ZBI) served as the primary tool for gauging the level of caregiver burden, while the Simplified Coping Style Questionnaire (SCSQ) provided insights into their coping strategies.

Results: Our survey encompassed 284 primary caregivers of TBI children. The average ZBI score for this cohort was 40.57±10.41, indicating a considerable burden. Correlational analysis uncovered robust links between the burden of caregivers and several pivotal factors: the severity of TBI (r=0.496), intensive care unit (ICU) stay (r=0.525), monthly household income (r=0.604), and reliance on negative coping mechanisms (r=0.493), all of which were statistically significant (P<0.05). Further, a multiple linear regression analysis affirmed that the severity of TBI, ICU admissions, monthly income, and negative coping styles were independent predictors of caregiver burden (P<0.05).

Conclusions: The findings underscore the substantial burden shouldered by primary caregivers of TBI children. It is imperative to direct targeted support towards caregivers from economically disadvantaged backgrounds and those who tend to adopt negative coping strategies, to alleviate their burden.

Pediatric renal transplant recipients (RTRs) face heightened risks when they transition from a childhood nephrologist to an adult-centered one. The transition of care usually occurs when an individual is between ages 18 and 21 years, although some change providers earlier or later depending on varying circumstances. Turbulence during this shift can significantly impact daily life and, in severe cases, lead to graft loss. Several modern studies have explored the transition from pediatric to adult-centered nephrology care post-renal transplant. In this review, we first provide an overview of the differences between pediatric and adult renal transplant, highlighting unique challenges faced by pediatric patients such as donor-recipient size disparity, growth impairment, and need for additional immunizations. We then emphasize the criticality of a well-planned transition process, identifying factors that can hinder a smooth transition-such as medical and medication nonadherence, lack of health literacy, patient psychosocial challenges, and systemic shortcomings in coordination between care teams. Furthermore, this review outlines existing protocols and risk assessment tools, in addition to highlighting recent advancements aimed at facilitating smoother transitions such as the RISE protocol, readiness assessment, and the use of multidisciplinary teams. Proper implementation of coordinated, evidence-based transition protocols can improve patient outcomes, promote medication and appointment adherence, and reduce graft rejection rates. Efforts from multidisciplinary teams utilizing technology, risk stratification tools, and open communication between providers and patients are key to optimizing the transition process for pediatric RTRs as they transfer to adult-centered care.

Background and objective: In the last two decades, the treatment of vesicoureteral reflux (VUR) benefits from the introduction of robot-assisted laparoscopy surgery in pediatric population. This article aims to review the advantages of robot-assisted laparoscopic extravesical ureteral reimplantation (RALUR-EV) in pediatric patients with VUR and provides an update on surgical outcomes.

Methods: A literature search of PubMed and MEDLINE databases was conducted. All the articles, published between 2010 and 2022, describing clinical outcomes of patients with VUR after treatment with RALUR-EV, were considered to be relevant for the purpose of the study. The results were synthetized as a narrative review.

Key content and findings: Twenty-one studies were included. Of them, 19 (90.5%) presented a retrospective design. These articles involved 1,321 children and 1,914 ureters who underwent RALUR-EV. The mean age at the procedure was 6 years, and the mean follow-up length was 20.4 months. The overall success rate of surgery was 92.2% for patients and 90.9% per ureter. The mean operational time was 175.4 minutes for unilateral reimplantation and 200.3 minutes for bilateral reimplantation. The mean length of stay was 1.9 days.

Conclusions: The article discusses the adoption of RALUR-EV, its advantages, the heterogeneity of study protocols, and the evolution of surgical techniques. It also highlights the need for standardized protocols and prospective studies to further understand the advantages of RALUR-EV.

Background: Mycoplasma pneumoniae (M. pneumoniae) is a common pathogen of community-acquired pneumonia. Interleukin-17 (IL-17) plays a role in host defense and contributes to disease severity in infection. This present study aims to investigate the association between Mycoplasma pneumoniae pneumonia (MPP) and changes of IL-17 level in the serum of pediatric patients.

Methods: The protocol has been registered in PROSPERO (CRD42023489451). A literature search was conducted in PubMed, EMBASE, Scopus, and Web of Science from inception to October 2023. A meta-analysis was performed to pool the mean difference (MD) with 95% confidence intervals (CIs) of IL-17 levels between patients and controls. Publication bias was assessed, and the risk of bias was evaluated using the Newcastle-Ottawa Scale (NOS).

Results: Out of 207 records, 10 studies were included in the review and 9 studies were included in the meta-analysis. Of these, 7 studies compared IL-17 in general MPP patients with controls, 6 studies compared severe MPP patients with mild MPP patients. Serum IL-17 levels were significantly elevated in general MPP patients compared with control (MD =33.94 pg/mL, 95% CI: 24.66, 43.22 pg/mL, P=0.01, I²=99.07%; P=0.01). Subgroup analyses showed a difference in serum IL-17 levels treated by macrolide between patients and control (MD =83.96 pg/mL, 95% CI: 76.62, 91.29 pg/mL, P=0.01). In severe and mild MPP, the IL-17 levels were significantly increased (MD =19.08 pg/mL, 95% CI: 11.51, 26.65 pg/mL, P=0.01) and heterogeneity was appeared (I²=99.39%; P=0.01). For the risks of bias, two studies had a "high risk" in comparability domain, and the 7 studies were classified as "low risk" and "unclear risk".

Conclusions: Our meta-analysis revealed that serum IL-17 levels are significantly elevated in pediatric with general and severe MPP. IL-17 might be a potential biomarker or therapeutic target for pneumonia caused by M. pneumoniae.

Background and objective: Epilepsy affects approximately 50 million people worldwide, with 30-40% of patients not responding to medication, necessitating alternative therapies such as surgical intervention. However, the accurate localization of epileptogenic lesions, particularly in pediatric magnetic resonance imaging (MRI)-negative drug-resistant epilepsy, remains a challenge. This paper reviews advanced neuroimaging techniques aimed at improving the detection of such lesions to enhance surgical outcomes.

Methods: A comprehensive literature search was conducted using PubMed, focusing on advanced MRI sequences, focal epilepsy, and the integration of artificial intelligence (AI) in the diagnostic process.

Key content and findings: New MRI sequences, including magnetization prepared 2 rapid gradient echo (MP2RAGE), edge-enhancing gradient echo (EDGE), and fluid and white matter suppression (FLAWS), have demonstrated enhanced capabilities in detecting subtle epileptogenic lesions. Quantitative MRI techniques, notably magnetic resonance fingerprinting (MRF), alongside innovative post-processing methods, are emphasized for their effectiveness in delineating cortical malformations, whether used alone or in combination with ultra-high field MRI systems. Furthermore, the integration of AI in radiology is progressing, providing significant support in accurately localizing lesions, and potentially optimizing pre-surgical planning.

Conclusions: While advanced neuroimaging and AI offer significant improvements in the diagnostic process for epilepsy, some challenges remain. These include long acquisition times, the need for extensive data analysis, and a lack of large, standardized datasets for AI validation. However, the future holds promise as research continues to integrate these technologies into clinical practice. These efforts will improve the clinical applicability and effectiveness of these advanced techniques in epilepsy management, paving the way for more accurate diagnoses and better patient outcomes.

Background: Iron deficiency (ID) is linked to an increased need for perioperative red blood cell (RBC) transfusion in cardiac surgery. Traditional markers used to assess ID are often influenced by inflammation, whereas soluble transferrin receptor (sTfR) is less affected by inflammation. Therefore, the purpose of this study is to explore the relationship between sTfR levels and the need for high-volume RBC transfusion in pediatric cardiac surgery patients.

Methods: From August 2021 to July 2022, 236 low-weight infants (≤10 kg) who underwent cardiac surgery were included in this study. Preoperative sTfR levels and the volume of RBCs perioperatively transfused were recorded. Receiver operating characteristic (ROC) curve analysis and multivariable logistic model were used to explore the association between sTfR levels and the need for a high-volume of RBC transfusion in this study.

Results: In our study, 29 (12.3%) patients received more than 2 units during the perioperative period. sTfR level was the most accurate marker for predicting the need for RBC transfusion [area under the curve (AUC) =0.643; 95% confidence interval (CI): 0.531-0.756]. Moreover, in both the continuous and categorical variable-adjusted models, a high sTfR level was associated with a greater need for RBC transfusion (P=0.006; P<0.001).

Conclusions: RBC transfusion is common for low-weight infants undergoing cardiac surgery. Furthermore, a high preoperative sTfR level is associated with the need for a high-volume perioperative RBC transfusion.

Autism is a neurological disorder that affects social skills and behavior. A significant number of children with autism spectrum disorders (ASDs) may not display noticeable symptoms until they reach the age of three or older. Several factors, including genetic and environmental issues, could affect the progression of ASD in children. Dietary behavior or administration may have a crucial role in the development of autism. Epidemiological investigations have demonstrated that environmental influences play a significant role in how changes in diet can affect behavior and physiology. However, exclusion diets have not been thoroughly studied in relation to this effect. Atypical food behaviors, altered nutritional profiles, and being overweight, obese, or underweight are all associated with autism in children. Overweight or underweight was common in children with autism, but it was not necessarily uncommon in children with normal growth. Moreover, deficiencies in certain vitamins (B12, B9, and D), minerals (calcium and iron), fatty acids (omega-3 and -6), energy, and protein have been documented in children with ASD. The deficiency of these nutrients may lead to gastrointestinal (GI) symptoms and change the microbiota in children with ASD. Some nutritional interventions could help individuals with ASD to improve their mental health. Recognizing dietary habits and nutrient requirements can help in planning the best overall treatment for autism. This review discusses GI symptoms and disorders related to nutrition and nutrient-dense diets for ASD.

Background: Congenital tufting enteropathy (CTE) is a rare cause of intractable congenital diarrhea in children, always resulting in parenteral nutrition (PN) dependency. We aimed to report novel mutations in Chinese patients and to illustrate the clinical, histopathological, and molecular features of CTE in China.

Case description: We report three cases of CTE diagnosed with whole-exome sequencing (WES) and MOC31 [a monoclonal antibody of epithelial cell adhesion molecule (EPCAM)] immunohistochemistry. The main manifestations in the three patients were watery diarrhea and growth retardation. Upper endoscopy in three patients revealed villous atrophy of the duodenal mucosa. Histological examination revealed villus abnormalities and two patients with focal tufting. All of the three patients revealed a complete absence of EPCAM expression through MOC31 immunohistochemistry. Five novel mutations, including c.319delG, c.505_507delGAG, c.491+1G>C, c.60del (p.F20Lfs*17), and c.353G>A, in EPCAM were identified through molecular analysis. In our review, there were 18 different mutations in 11 patients from nine studies, with 12 mutations reported only once. In China, 73% of the patients were compound heterozygotes, and most of the pathogenic variants were in exon 3. All patients presented with congenital diarrhea and needed PN because of growth retardation, even when diarrhea was improved. Of the 11 patients, 3 (27%) died.

Conclusions: CTE is rare and fatal, and lacks characteristic changes during endoscopy. Patients with CTE require early diagnosis via histological examination and genetic detection to improve survival.

Background: Congenital heart disease (CHD) is the leading cause of death from malformations in infants and has a significant psychological impact on families. This scoping review explored the role of spirituality in supporting families of children with CHD. It also sought to identify gaps in the existing literature and suggest directions for future research.

Methods: A synthesis review was conducted following the framework of Arksey and O'Malley, incorporating the principles of the Joanna Briggs Institute. We systematically searched four databases-Medline, Embase, Lilacs, and Scielo-selecting studies based on inclusion criteria focused on spirituality in families of children with CHD. Articles without full text, book chapters, lectures, conference abstracts, review articles, and editorials were excluded. We analyzed the year of publication, study location, objectives, methodology, participants of the study, and main results.

Results: A total of 17 studies were included in the review, most of which were conducted in the past 10 years. The studies were conducted in various regions of the world, including Japan, the USA, China, Iran, Sweden, and Brazil, and they examined different religious traditions, including Christianity, Islam, Buddhism, and non-denominational spiritual practices. Twelve qualitative studies, three descriptive studies, one cross-sectional study, and one case report were included. The articles were categorized based on several themes: the influence of spirituality on mental and emotional well-being, cultural and religious diversity, integration of spirituality into health care, and its assistance in decision-making.

Conclusions: Spirituality plays a crucial role in addressing the emotional and psychological challenges of CHD. There is a need for structured models of spiritual counseling and more research in diverse cultural and socioeconomic contexts. Identifying these gaps can help guide future studies to enhance our understanding and improve the support provided to these families, thereby promoting more holistic and patient-centered healthcare.