Translational pediatrics最新文献

Background: Congenital heart disease (CHD) is the most common congenital abnormality worldwide. Patients in resource-constrained environments experience higher levels of mortality and morbidity from CHD. Many studies have quantified the incidence of CHD in resource-constrained environments and compared these to availability of surgeons per population. However, no study to date has compiled and created a repository of the global paediatric cardiac surgical workforce. We aimed to quantify the number and details of the congenital cardiac surgeons globally, compare the population of under 15's in each respective countries, and address the workforce gaps that currently exist within paediatric cardiac surgery.

Methods: Cardiothoracic Surgery Network (CTSNet) was searched in 2021 to extrapolate the current paediatric cardiac surgical workforce. The data was evaluated with the current literature to address current gaps in workforce planning and sustainability to produce this appraisal.

Results: A total of 4,027 congenital cardiac surgeons were identified from CTSNet with 75% residing in high-income countries (HICs) or upper-middle-income countries (UMICs) despite these income groups only accounting for 16% of the world population. Despite similar incidence and prevalence of CHD globally, we found an unequal distribution in the availability of congenital cardiac surgeons worldwide.

Conclusions: The disparity in the availability of surgeons between HICs and low-middle-income countries (LMICs) is a global health issue that will require serous thought and planning to resolve. The high proportion of preventable deaths from CHD cases is a regrettable figure that governments and medical organisations should further strive to decrease. Education and proactive investments in training up local teams in LMICs will allow for sustainability in global congenital cardiac surgery.

Background: Laminin-α2 (LAMA2) chain-deficient muscular dystrophy (LAMA2-MD) is the most common congenital muscular dystrophy (CMD) in the world. Its main manifestations are muscle weakness and hypotonia that occur after birth or at early infancy.

Case description: We reported a case of a 3-year-old and 6-month-old boy presented with delayed motor development, elevated creatine kinase (CK) levels, and abnormal white matter in the brain. Whole exome sequencing (WES) showed compound heterozygous variants of the LAMA2 gene. This case reports for the first time the compound heterozygous LAMA2 variants c.5476C>T (p.R1826*) (paternal inheritance) with c.2749 + 2dup (maternal inheritance), as both variants are interpreted as pathogenic/potentially pathogenic variants.

Conclusions: This study reports a novel heterozygous variant, including two pathogenic variants in the LAMA2 gene, and highlights the effectiveness of highly efficient exome sequencing applying in patients with undefined CMDs.

Background: In 2009, the clinical practice guidelines (CPG) were released by the American Academy of Orthopaedic Surgeons (AAOS), which outline an age-based approach for treating pediatric femoral shaft fractures (PFSF), both nonoperatively and operatively. The aim of the current study was to investigate potential disparities between the recommended treatments for PFSF based on the AAOS-CPG and the actual treatments administered in The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University.

Methods: A retrospective review was conducted on the medical charts and radiographs of all PFSF treated at The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University from January 2014 to January 2022. We identified 445 children who met our inclusion criteria and evaluated their treatments according to the AAOS-CPG. Actual treatments were then compared with the treatments recommended by the AAOS-CPG. Binomial and multivariate logistic regression was used to examine whether different factors could predict the choice between operative and nonoperative management.

Results: Operative treatments were undertaken in 102 of 215 (47.4%) fractures in children younger than 6 years, in 102 of 122 (83.6%) fractures in those between 6 and 12 years of age, and in 107 of 108 (99.1%) fractures in those older than 12 years. Nonoperative management was conducted in 113 of 215 (52.6%) fractures in children younger than 6 years, in 20 of 122 (16.4%) fractures in those between 6 and 12 years of age, and in 1 of 108 (0.9%) fractures in those older than 12 years of age. Surgeon decisions for non-surgery were in agreement with the CPG 52.6% of the time, whereas agreement reached 90.9% for surgical choices. Predictors of actual operative management were age (P=0.01), patient weight (P<0.001), fracture pattern (P<0.001), presence of other orthopedic injuries requiring surgery (P=0.002), and polytrauma (P=0.02).

Conclusions: There was limited concordance between actual treatments and CPG recommendations, particularly for the nonoperative management of fractures in children under 6 years old. Age, patient weight, fracture pattern, presence of other orthopedic injuries requiring surgery, and polytrauma were the main predictors of our operative decision-making process.

Background: Necrotizing enterocolitis (NEC) is a severe inflammatory intestinal disease in preterm infants, marked by heightened morbidity and mortality. Timely prediction of NEC is significant in the management of critical neonates. However, it is difficult to predict NEC accurately because of the multi-factorial pathogenesis. This study aimed to develop a prediction model through repeated measurement data to further improve the accuracy of prediction in NEC.

Methods: We retrospectively collected clinical data of premature infants admitted to the Neonatology Department of the First Affiliated Hospital of Anhui Medical University from January 2016 to December 2023. The infants were categorized into the NEC group (Bell's stage ≥ II) (n=150) and the non-NEC group (n=150). The clinical baseline data of the NEC and non-NEC groups were matched. Laboratory examination indicators were collected on the 1st day, the 7th day after birth, and the day of NEC onset. Univariate and multivariate logistic regression analyses were conducted to identify independent factors influencing NEC. A nomogram was constructed based on these factors to predict NEC. The concordance index and calibration plot were used to assess the efficiency of the nomogram in the training and validation cohorts.

Results: This study demonstrated that antenatal steroids, antenatal antibiotics, probiotics treatment before NEC, anion gap (AG, day 7), and mean corpuscular volume (MCV, day 7) were independent risk factors which combined to accurately predict NEC. A nomogram of NEC was created utilizing these five predictors. With an area under the receiver operator characteristic (ROC) curve of 0.835 [95% confidence interval (CI): 0.785-0.884]. Concordance index for the training and validation groups were 0.835 and 0.848, respectively. As the calibration plots indicate, the predicted probability of NEC is highly consistent with the actual observation.

Conclusions: The risk estimation nomogram for NEC offers clinical value by guiding early prediction, targeted prevention, and early intervention strategies for NEC.

Background: Castleman disease (CD) is a rare lymphoproliferative disease. Idiopathic multicentric CD (iMCD), representing a distinct entity in CD, is partly attributed to autoimmune abnormalities and the hyperplastic process in iMCD involving the immune system. Consequently, iMCD presents a range of overlapping manifestations with connective tissue disorder (CTD), resulting in an inability to tell whether they coexist or imitate each other. Reports of CD combined with CTD are rare, more cases are needed to be summarized and analyzed to improve the efficiency of diagnosis and accelerate the development of novel treatments.

Case description: A male pediatric patient was diagnosed with CTD in October 2019 and had been receiving regular treatment with tocilizumab and glucocorticoid or methotrexate since April 2020. He was further diagnosed with iMCD of the hyaline vascular subtype according to biopsy-proven histopathological features and imaging-proven multiple involvement in August 2021. He received 4 doses of rituximab and then a combination of thalidomide and dexamethasone for about 1 year. His clinical symptoms were well controlled throughout the disease for a long period, but inflammatory markers were repeatedly elevated, which eventually turned normal after switching to siltuximab from July 2023, although a significant elevation of interleukin-6 occurred.

Conclusions: We reported a pediatric case diagnosed as CTD and iMCD, whose inflammation finally be well controlled by siltuximab. Hopefully, our work will add insight into such rare situations and it is undoubtedly that the pathophysiological mechanism of CD and CTD coexistence and prediction models of treatment response remains to be explored to facilitate the clinical management and optimal treatment.

Background: Prader-Willi syndrome (PWS) is a multisystem genetic disorder caused by chromosomal imprinting gene defects, with approximately 70% of cases resulting from paternal deletion of the chromosomal region 15. The main clinical features include severe infantile hypotonia, early-onset childhood obesity, hyperphagia, and underdeveloped external genitalia. As individuals with PWS age, they may exhibit irritability, social dysfunction, impaired gonadal development, and metabolic syndrome. Previous literature places the prevalence of type 2 diabetes mellitus (T2DM) in PWS at approximately 7-24%. Oxytocin is a neuropeptide secreted by the paraventricular (PVN) and supraoptic (SON) nuclei of the hypothalamus and regulates energy metabolism, which is involved in PWS. Due to age limitations, very few patients progress to diabetic nephropathy during childhood, and reports of typical diabetic nephropathy in PWS during childhood are extremely rare. Dulaglutide is a glucagon-like peptide-1 (GLP-1) receptor agonist which can be used in the treatment of T2DM.

Case description: This article reports a case of a child with PWS complicated by stage III diabetic nephropathy, providing a retrospective analysis of the diagnosis and treatment process, as well as a review of domestic and international literature, to enhance understanding of this condition. And this article provides a treatment idea for PWS patients with diabetic nephropathy.

Conclusions: It is very important to enhance understanding of PWS. And we offer new diagnostic and possible therapeutic approaches for pediatric patients with diabetic nephropathy.

Background and objective: Minimally invasive surgery (MIS) has been widely utilized to manage congenital gastrointestinal (GI) anomalies in children during the last two decades. Currently, MIS has a proven track-record for its feasibility and provides multiple benefits including better cosmesis, less trauma, and faster recovery in neonates and infants. However, it remains controversial whether MIS provides better definitive outcomes in pediatric patients with GI anomalies, especially among neonates. We aim to review the recent developments of MIS in infants with GI defects, assisting surgeons in making decisions and improving patient outcomes.

Methods: A comprehensive literature search of PubMed and Web of Science's core collection was performed using terms of MIS techniques and congenital GI anomalies.

Key content and findings: This review summarizes recent evidence-based advances of MIS in infants with congenital GI defects and potential future strategies based on evidence. Better cosmetic results, less postoperative pain, and an accelerated recovery have been shown to be common advantages of MIS relative to open approaches. Technical hurdles and metabolic disturbance were reported to be the main reasons for the decisions of open approach.

Conclusions: Advanced techniques of MIS have made more precise manipulations and better outcomes possible, even for newborns. At the same time, surgeons should not be afraid to use an open approach in certain circumstances due to technical limitations or patient tolerance. The difficulty infants face in expressing their true feelings underscores the need for systematic and objective assessment tools to evaluate surgical outcomes.