Translational pediatrics最新文献

Background: Helicobacter pylori (HP) infection is a major cause of duodenal ulcers (DUs) in children. DUs can lead to gastrointestinal bleeding and even intestinal perforation, both of which may be life-threatening. This study aimed to establish a predictive model for identifying DUs in children with HP infection, in order to assist primary care pediatricians with early diagnosis and intervention.

Methods: A total of 456 children with HP infection admitted to Fujian Children's Hospital and Fujian Maternal and Child Health Hospital were retrospectively included. The training group comprised 307 patients from Fujian Children's Hospital, while the validation group consisted of 149 patients from Fujian Maternal and Child Health Hospital. The patients in the training group were categorized into the HP infection group or HP infection with DU group. Firstly, least absolute shrinkage and selection operator regression analysis was conducted, and the selected variables were subjected to logistic regression analysis to identify the predictors of DUs in children with HP infection. Finally, a nomogram was established for the model.

Results: Sex, melena, hemoglobin level, and uric acid level were included in the final prediction model. The area under curve values for the internal training and external validation groups were 0.740 and 0.728, respectively. The Hosmer-Lemeshow tests and calibration curves indicated that the degree of fit and consistency of the model were satisfactory. These decision curve analyses indicated that the model has certain clinical application value.

Conclusions: If male children with melena, decreased hemoglobin levels and high uric acid levels are clinically encountered, DUs require high vigilance, and the children should be promptly referred to a facility with pediatric endoscopic capabilities for further diagnosis and treatment.

Background: Congenital nephrotic syndrome (CNS) is a rare renal disorder in infants, characterized by significant proteinuria, hypoalbuminemia, edema, and hyperlipidemia, while neurological manifestations are uncommon. Pleckstrin homology and RhoGEF domain containing G2 (PLEKHG2) gene plays a crucial role in the maturation and development of axons, dendrites, and spines. Variants in the PLEKHG2 gene have previously been linked to the development of infantile-onset epileptic encephalopathy.

Case description: We report a male infant with CNS who experienced jerky myoclonus and partial seizures since the neonatal period. Electroencephalography (EEG) revealed lateralized periodic discharges (LPDs), characterized by a triphasic wave pattern. Whole exome sequencing identified two heterozygous variants in the NPHS1 gene, as well as one heterozygous and one homozygous variant in the PLEKHG2 gene. The variants in the PLEKHG2 gene were identified as the likely pathogenic responsible for the myoclonus and seizures. A comprehensive review of the existing literature was conducted to highlight the limited understanding of PLEKHG2 gene variants, their clinical manifestations, and their potential association with LPDs due to brain white matter injury.

Conclusions: Our case highlights the link between PLEKHG2 gene variants and LPDs in congenital CNS. It underscores the importance of recognizing EEG patterns associated with these variants and calls for further research into their molecular mechanisms, clinical manifestations, and potential therapies.

Background: Neuroblastoma is the most prevalent extracranial solid tumor in children. This study aims to assess the global burden of neuroblastoma in 2021.

Methods: We utilized data from the Global Burden of Disease (GBD) 2021 study to collect the incidence, prevalence, mortality, and disability-adjusted life years (DALYs) of neuroblastoma, and calculated the estimated annual percentage change (EAPC). The neuroblastoma burden was then assessed using decomposition analysis and inequality analysis. Additionally, we forecast neuroblastoma trends from 2022 to 2036.

Results: In 2021, an estimated 51,762 [95% uncertain interval (UI): 34,704.53-70,435.21] cases of neuroblastoma were reported globally among individuals under 14 years of age, with 5,560 (95% UI: 3,734.21-7,560.03) new cases and an estimated 1,977 (95% UI: 1,445.04-2,528.54) deaths. From 1990 to 2021, the global burden of neuroblastoma showed an upward trend. Only the high socio-demographic index (SDI) region exhibited a declining trend in disease burden, with an EAPC for incidence of -0.81 (-1.05 to -0.56). India had the highest number of new cases, total cases, and deaths among 204 countries. Decomposition analysis indicated that population growth and epidemiological changes are the primary drivers of the disease burden. Inequality analysis indicates an increasing burden of neuroblastoma in low-SDI countries. The actual number of cases is expected to continue increasing. By 2036, the age-standardized prevalence rate (ASPR) is projected to be 2.83 per 100,000 for males and 2.18 per 100,000 for females.

Conclusions: This study highlights the increasing global neuroblastoma case numbers and the inequities in disease distribution. These insights may guide the development of more effective public health policies.

Background: Severe Mycoplasma pneumoniae pneumonia (SMPP) can be complicated by plastic bronchitis (PB), posing a serious threat to children's health. Early identification of PB is crucial. This study aimed to clarify the clinical characteristics and independent risk factors for PB in children with SMPP, to facilitate early clinical recognition.

Methods: A retrospective analysis was conducted on 115 children diagnosed with SMPP and admitted to Chengdu Women's and Children's Central Hospital between January 2023 and March 2024. Based on bronchoscopy results, patients were divided into a PB group and a non-PB group. Clinical characteristics were compared between the two groups. Binary logistic regression was used to identify independent risk factors and construct a predictive model. The predictive performance was evaluated using the receiver operating characteristic (ROC) curve.

Results: In children of the PB group, fever duration, peak fever, neutrophil percentage (N%), neutrophil-lymphocyte ratio (NLR), C-reactive protein (CRP), procalcitonin (PCT), aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), and D-dimer levels, as well as the incidence of unilateral lung involvement [computed tomography (CT) findings: consolidation involving >2/3 volume of the unilateral lung, presenting with uniform opacity accompanied by air bronchogram, which may or may not be associated with atelectasis], distal bronchial occlusion, pleural effusion, and the usage rate of doxycycline were all significantly higher than those in the non-PB group (P<0.05). There were no significant differences in gender, age, lung function, or fractional exhaled nitric oxide (FeNO) levels between the two groups (P>0.05). Binary logistic regression indicated that fever duration >6 days, LDH >289 U/L, and unilateral lung involvement were independent risk factors for PB (P<0.05). ROC curve analysis showed that the area under the curve (AUC) for the combined prediction of these three factors was 0.864, with a sensitivity of 86% and a specificity of 78.8%.

Conclusions: This study confirms that fever duration, LDH levels, and unilateral lung involvement serve as independent risk factors for PB complicating SMPP in children. By integrating a multidimensional assessment system encompassing clinical manifestations, laboratory parameters, and imaging characteristics, the established model facilitates early identification of PB risk, providing a critical time window for clinical intervention.

Background: Despite widespread vaccination, pertussis persists as a critical global public health threat, particularly for individuals under 20 years old. This study aimed to comprehensively assess the global burden of pertussis in this population, with a specific focus on disparities related to age, sex, location, and socioeconomic development.

Methods: We utilized data from the Global Burden of Disease (GBD) study 2021 to quantify the burden of pertussis including incidence, mortality, disability-adjusted life years (DALYs) among individuals under 20 years old across 204 countries and territories from 1990 to 2021. Burden estimates were stratified by age, sex, location, and socio-demographic index (SDI). Temporal trends were assessed using estimated annual percentage change (EAPC), and the association between burden metrics and SDI was evaluated via smoothing spline models and Spearman's correlation analysis.

Results: From 1990 to 2021, the global incidence of pertussis in individuals under 20 years old decreased by 77.7%. Similarly, deaths and DALYs due to pertussis declined by 80.3%. In 2021, low-SDI regions reported the highest number of pertussis cases, deaths, and DALYs, whereas high-SDI regions had the lowest. Geographically, South Asia had the highest case count, and Western Sub-Saharan Africa led in deaths and DALYs. Infants had the highest incidence, mortality, and DALY rates. Gender disparities were observed, with females generally having higher rates than males, except in Eastern Sub-Saharan Africa. A negative correlation was noted between SDI and pertussis burden.

Conclusions: Our study provides valuable insights into the global pertussis burden among individuals under 20 years old. Despite overall improvements, significant variations exist. Our findings emphasize the need for sustained and improved vaccination strategies such as maternal immunization, improved coverage and timeliness, and better healthcare access, to further address these inequalities.

Background: Intrauterine growth restriction (IUGR) is a common complication in pregnancy. Preterm infants with IUGR have a higher risk of postnatal brain development delay compared with non-IUGR infants. The early postnatal period is a critical phase of rapid brain growth in preterm infants, during which brain development is highly sensitive to early nutritional deficiency and associated clinical factors. This study aimed to evaluate the associations of clinical factors, including early nutrition intake, with cerebral growth in preterm infants with IUGR at term-equivalent age (TEA).

Methods: The clinical data of preterm infants hospitalized in the Neonatal Specialized Department of the Second Xiangya Hospital of Central South University from January 1, 2015 to December 31, 2019 were retrospectively collected and analyzed. Nutritional analysis included the mean daily intakes of protein, fat, carbohydrates, and energy during the first postnatal week. Brain development was assessed by cerebral measurements on magnetic resonance imaging scans obtained during TEA, and multiple regression analysis was used to detect potential associations between nutrition, clinical factors and cerebral measurements.

Results: The results showed lower cerebral measurement including the bifrontal diameter (BFD), left and right frontal lobe heights ( were defined as FH-L and FH-R, respectively), transverse cerebellar diameter (TCD), genu and body of corpus callosum (CC) [all adjusted for the cephalic index (CI)] in IUGR infants than in non-IUGR infants {7.87±0.69 vs. 7.40±0.85 mm, P=0.004; 5.64±0.78 vs. 5.33±0.82 mm, P=0.04; 5.72±0.78 vs. 5.36±0.79 mm, P=0.04; 5.83 [interquartile range (IQR), 5.57-6.16] vs. 5.59 (IQR, 5.35-5.86) mm, P=0.049; 0.0266 (IQR, 0.0232-0.0292) vs. 0.0240 (IQR, 0.0214-0.0262) mm, P=0.02; 0.0188 (IQR, 0.0149-0.0223) vs. 0.0161 (IQR, 0.0146-0.0197) mm, P=0.02, respectively}. Protein intake in the first postnatal week (g/kg per day) was positive associated with BFD/CI, FH-L/CI and FH-R/CI at TEA in the non-IUGR group (r=0.269, P=0.04; r=0.302, P=0.02; r=0.286, P=0.03, respectively). Biological indicators such as length at discharge z-score, head circumference at discharge z-score, length at discharge, gestational age, birth weight, duration of breastfeeding, gestational diabetes mellitus (GDM), respiratory distress syndrome (RDS), and intraventricular hemorrhage (IVH) were associated with the development of different brain regions at TEA.

Conclusions: IUGR Infants are more likely to experience delayed brain development at TEA. Biological indicators including early growth (length at discharge & its z-score, head circumference at discharge z-score), birth variables (gestational age, birth weight), duration of breastfeeding, GDM, RDS, and IVH are associated with the development of different brain regions at TEA.

Background: Intracranial imaging abnormalities are highly prevalent in children with Group B Streptococcus (GBS) meningitis and are closely associated with disease severity and prognosis. This highlights the importance of investigating the clinical features of GBS meningitis and the risk factors for imaging abnormalities. This study aimed to identify the risk factors for imaging abnormalities in children with GBS meningitis, thereby providing a basis for the early identification of high-risk patients.

Methods: A retrospective analysis of GBS meningitis was conducted involving 12 hospitals across China between January 2019 and December 2020, extending through 2024 for the Children's Hospital of Zhejiang University School of Medicine.

Results: A total of 327 cases were included in this study, and the age ranged from 1 day to 4.5 years, with 90.5% under 3 months. Most patients exhibited typical cerebrospinal fluid (CSF) abnormalities, while in 4.0% of patients, the initial CSF cells appeared normal. Imaging abnormalities were developed in 65.2% (210/322) of patients, primarily subdural effusion (30.4%, 98/322). Patients with imaging abnormalities demonstrated higher rates of simultaneous positive CSF and blood cultures, lower CSF glucose (GLU) levels, elevated initial CSF protein concentrations, prolonged hospitalization, increased costs, lower cure rates, and higher incidence of neurological sequelae (P<0.05). Multivariate logistic regression analysis revealed simultaneous positive CSF and blood cultures [odds ratio (OR)=1.945, 95% confidence interval (CI): 1.131-3.346] and initial CSF GLU concentrations <1.57 mmol/L (OR=0.7, 95% CI: 0.557-0.880) as independent risk factors.

Conclusions: Pediatric GBS meningitis predominantly affects infants under 3 months, with a high incidence of imaging abnormalities. Simultaneous positive CSF and blood cultures, and lower initial CSF GLU concentrations (<1.57 mmol/L) are independent risk factors for imaging abnormalities.

Background: Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder (UCD), caused by a deficiency of the OTC enzyme, leading to the accumulation of toxic ammonia in the blood. Neonatal-onset OTCD is associated with high mortality and severe neurodevelopmental impairments. Symptoms are often non-specific and can mimic neonatal sepsis. If untreated, the condition can rapidly progress to neurological damage. Early diagnosis and prompt intervention are crucial for improving survival and long-term outcomes.

Case description: We report a case of a 9-day-old male infant diagnosed with neonatal-onset OTCD, who presented with lethargy and poor feeding. Initial ammonia levels were found to be elevated at 428 µmol/L, prompting the initiation of supportive care, including protein restriction and intravenous arginine. However, the patient's ammonia level rose sharply to 1,150 µmol/L within 20 hours, prompting the initiation of continuous veno-venous hemodiafiltration (CVVHDF). Following CVVHDF, ammonia levels decreased to 145 µmol/L within 24 hours. Genetic testing confirmed a hemizygous pathogenic variant (c.542A>G) in the OTC gene, confirming the diagnosis of OTCD. After clinical stabilization, he was discharged on a low-protein diet with supplementation. At 8 months, the patient underwent successful orthotopic liver transplantation using a graft from a donor after circulatory death. Postoperatively, he made an uneventful recovery, with stable graft function. At 1 year of age, he exhibited favorable metabolic control and age-appropriate developmental progress.

Conclusions: This case highlights the importance of early diagnosis and intervention in neonatal-onset OTCD. Timely application of continuous blood purification (CBP) followed by liver transplantation resulted in significant improvements in both metabolic control and neurodevelopment.