Translational pediatrics最新文献

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.

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: Resting energy expenditure (REE) refers to the energy consumption of the body in a resting state without skeletal muscle activity. This study aimed to examine the REE among children hospitalized with varying nutritional status.

Methods: This was a retrospective study. We enrolled 109 pediatric cases that underwent indirect calorimetry (IC) and divided into four groups: mild malnutrition group (15 cases), moderate malnutrition group (30 cases), severe malnutrition group (32 cases), and obesity group (32 cases). We compared and analyzed the measured REE (mREE) using IC with the predicted REE (pREE) using five energy equations. The paired t-test was used to compare the results of two samples. Pearson analysis was used to assess the correlation between two values. The agreement analysis was performed using the Bland-Altman method.

Results: There was no significant difference in mREE between the mild, moderate, and severe malnutrition groups, but each differed significantly from the obesity group. All populations exhibited significant correlation between the mREEs and all five energy equations, and the equation with the highest predictive accuracy was the Schofield equation, which achieved an accuracy of 47.7%. In subgroup analysis, there was no significant difference between mREE and pREE for each of the five equations in the mild, moderate malnutrition groups. Only the prediction result of the Liu equation was not significantly different from the mREE in the severe malnutrition group. The prediction accuracy of the Liu equation was relatively the highest (34.4%). However, in the obese group, there were significant differences in pREE and mREE between the Liu equation and Mifflin equation. Under different nutritional statuses, the results of the Bland-Altman analysis suggested that deviation values between REEs predicted by each equation and mREE were greater than ±10%.

Conclusions: There were differences in REE among children with different nutritional status. The results obtained from the five predictive energy equations deviated from the IC results. When REE cannot be measured by IC, it is essential to choose an appropriate predictive energy equation based on the nutritional status of the individual.

Background: Previously, we developed the Guidelines for the Management of Pediatric Off-Label Use of Drugs in China in addressing the need for standardization of pediatric off-label drug use. As the implementation of recommendations in Guidelines among healthcare professionals is weak, it is important to identify barriers to guideline implementation for developing appropriate strategies for specific settings and target groups. This study aimed to assess the difficulty and urgency in implementing the recommendations in the Guideline, identifying the factors affecting the implementation of these recommendations to realize the clinical translation of the Guideline.

Methods: A cross-sectional study was conducted from March 1 to June 17, 2022. Pediatricians, pharmacists, and health managers from all 31 mainland Chinese provinces were involved. The electronic questionnaires were distributed nationwide by The Clinical Pharmacology Group of the Pediatric Society of the Chinese Medical Association and the National Clinical Research Center for Child Health. Data analysis, including frequency, percentages, averages, and standard deviations was performed using Microsoft Excel 16.54. Chi-squared tests, multi-factor logistic regression, and linear regression were analyzed in SPSS 23.0. A Sankey diagram was constructed using R software.

Results: A total of 869 valid questionnaires were collected from 491 participating organizations. More than half of the recommendations were implemented, and 12 recommendations were implemented more in tertiary hospitals than in secondary hospitals. The mean urgency scores of all 21 recommendations were over 5. The mean difficulty scores of all 21 recommendations were over 4. The percentage of the most urgent was 44.33%, and the least urgent was 1.45%. The most difficult portion was 12.03%, and the least difficult was 5.74%. Factors impacting the urgency and difficulty of guideline implementation were different, with common influences including the position, education level of clinicians and hospital level.

Conclusions: The recommendations in the Guideline for the Management of Pediatric Off-Label Use of Drugs are considered highly urgent for implementation in China. Nevertheless, the study revealed challenges in applying all 21 recommendations within clinical practice. The key factors affecting implementation include the position, education, experience, and hospital level of healthcare professionals. It is recommended to facilitate implementing the recommendations by sharing experience across various hospital levels, starting from high-level hospitals and extending to primary healthcare settings. Moreover, adjustments to the professional structure within hospitals are needed to enhance the management of off-label drug use in pediatric patients.

Background: Rebound hyperbilirubinemia (HBB) is still present in as high as 10% of newborn babies. However, the applicability of established prediction models for rebound HBB to Chinese newborns is unclear. This study aimed to establish a model to predict HBB rebound after phototherapy among Chinese neonates.

Methods: A retrospective cohort study was conducted on 1,035 HBB infants receiving phototherapy. Rebound HBB was defined as total serum bilirubin (TSB) returning to or above the American Academy of Pediatrics (AAP) phototherapy threshold within 72 hours after the end of phototherapy. The predictive effects of previously published two- and three-variable scores were verified. Neonates were randomly assigned in a 6:4 ratio to the training (n=621) group and the testing (n=414) group. All variables in the training set were used to select predictors by least absolute shrinkage and selection operator (LASSO) regression analysis. The internal validation of the prediction model was performed using the testing set. The model's predictive performance was evaluated by area under the curve (AUC), accuracy, sensitivity, and specificity, each with 95% confidence intervals (CIs). Receiver operating characteristic (ROC) and calibration curves were constructed to evaluate the discrimination ability and fitting effect of the prediction model, respectively.

Results: Rebound HBB was observed in 210 patients (20.3%). The AUC for the two- and three-variable scores were 0.498 (95% CI: 0.455-0.540) and 0.498 (95% CI: 0.457-0.540), respectively. Predictive factors for the risk of rebound HBB included formula feeding (>3 times/day), standard phototherapy irradiation time, TSB levels and age at termination of phototherapy, neonatal weight, and differences between TSB levels at the phototherapy termination and phototherapy threshold. The prediction model's AUC was 0.935 (95% CI: 0.911-0.958), the sensitivity was 0.880 (95% CI: 0.809-0.950), the specificity was 0.831 (95% CI: 0.790-0.871), and the accuracy was 0.841 (95% CI: 0.805-0.876).

Conclusions: The established model performed well in predicting rebound risk among Chinese infants with HBB, which may be beneficial in treating and managing HBB in infants.

Background: Diarrhea is the leading contributory factor of sickness and mortality among children under five and an economic burden for families. This study aimed to investigate the effects of mixed probiotics supplementation at different times (consecutive and alternate-hour) on intestinal microecology in Sprague-Dawley (SD) rats with acute diarrhea.

Methods: A total of 40 SD rats were randomly assigned to four groups, including the control group, model group, probiotic group A, and probiotic group B. An acute diarrhea model was induced by administration of 5% dextran sulfate sodium. Rats in probiotic group A and probiotic group B were fed with Clostridium butyricum (C. butyricum), Bifidobacterium infantis (B. infantis), and Saccharomyces boulardii (S. boulardii) for a total of 7 days. Probiotic group A was fed with all probiotics simultaneously. Probiotic group B was fed with C. butyricum and B. infantis simultaneously, and then after a 2-hour interval, with S. boulardii. Metagenomic next-generation sequencing was used to analyze the fecal samples from every rat. The metagenomic sequencing used in this experiment was used to evaluate the effect of probiotics on the composition as well as function of the gut microbiota in order to gain a deeper comprehension of probiotic-host interactions on health and disease.

Results: The structure of the gut microbiota in probiotic group A showed significant changes. Compared to the model group, the abundance of some beneficial bacteria had increased, including Actinobacteria (P=0.048), Lactobacillus (P=0.050), and Lactobacillus johnsonii (P=0.042), and many opportunistic pathogenic bacteria has decreased, such as Ruminococcus (P=0.001). Compared to the control group, the abundance of some beneficial bacteria had increased, including Fusobacteria (P=0.02) and Phascolarium (P=0.002), and there was a reduction in the abundance of many opportunistic pathogenic bacteria such as Roseburia (P=0.03), Lachnoclosterium (P=0.009), and Oscillibacter_sp_1-3 (P=0.002). In addition, metagenomic analysis showed that as well as an up-regulation of glycoside hydrolase expression, amino acid and inorganic ion transport, and metabolism-related pathways, there was a down-regulation of cell motility.

Conclusions: Simultaneous administration of probiotics may have more positive implications in improving the gut microbiota of acute diarrhea rats.

Background: Microvascular free-tissue transfer is a widely used technique for surgical site reconstruction following head and neck mass resection. While it is commonly used in adults, the rarity of head and neck cancers in children makes free flap reconstruction relatively rare in this population. Free flap reconstruction allows for coverage of large defects which may result from wide resections performed to avoid exposing pediatric patients to primary radiotherapy.

Case description: We present two pediatric oncologic cases using free flap reconstruction. The first, a 4-year-old male, presented with a rapidly enlarging tongue lesion that was diagnosed as a biphasic synovial sarcoma. The mass was resected, and a radial forearm free flap was placed. The second, a 9-year-old male, presented with jaw pain and a mandibular mass. Biopsy confirmed a diagnosis of Ewing sarcoma. The patient was treated initially with chemotherapy, followed by surgical resection and placement of an osteocutaneous fibular free flap. Both patients are disease-free 5 years post-operation.

Conclusions: In each patient, complete resection of the primary tumor was performed eliminating the need for radiotherapy with utilization of free flap reconstruction. As advances in medicine enable better evaluation of clear margins resulting in larger resection defects, free tissue transfer provides a useful reconstructive option in the pediatric population.