To investigate the clinical characteristics of febrile infection-related epilepsy syndrome (FIRES). We used trajectory analysis and logistic regression analysis to investigate the clinical characteristics and prognostic risk factors respectively. Twenty-seven patients (16 males) were included. The median age of onset was 7 (IQR: 4–9) years. Routine cerebrospinal fluid (CSF) examination was normal. Electroencephalogram (EEG) showed frequent microseizures and electroseizures in all patients. Eight patients had claustrum signs in the acute phase. Anesthetics and anti-seizure medications (ASM) were used in all patients. All patients received immunotherapy, including plasma exchange (n = 4), immunoglobulin (n = 26), and corticosteroids (n = 19). Trajectory diagrams of seizure showed 6 patients had bimodal disease course. Besides, we found there may be a linear relationship between body temperature and convulsion frequency (R² = 0.25). The median Glasgow outcome scale (GOS) was 3 (IQR: 1–4). Nine deaths occurred, including abandonment of treatment (n = 3), hemodynamic instability (n = 3), brain hernia (n = 2), and brain hernia with hemodynamic instability (n = 1). Seizure onset combined with fever (p = 0.003), periodic discharge (p = 0.002), and non-ketogenic diet (non-KD) (p = 0.005) were independent risk factors for death. The KD group (n = 10) had lower mortality (p = 0.009), lower convulsion frequency at latest follow-up (p < 0.001), less ASM (p = 0.002), and higher GOS (p < 0.001) than non-KD group (n = 17). Therefore, some FIRES patients may have bimodal disease course. There may be a linear relationship between body temperature and convulsion frequency. Seizure onset combined with fever, periodic discharge and KD may affect the prognosis.

The aim of this study is to research the expression of the transient receptor potential canonical channel 3 (TRPC3) in a neonatal hyperoxic lung injury model of bronchopulmonary dysplasia (BPD), and to further investigate the role of the TRPC3/nuclear factor-κB (NF-κB) signaling pathway in hyperoxia-induced BPD by a TRPC3 agonist (GSK1702934A). The hyperoxic lung injury model of BPD was established in Sprague–Dawley neonatal rats. Hematoxylin and eosin (HE) staining and radial alveolar count (RAC) values showed that the hyperoxic lung injury model of BPD was successfully established in the neonatal rats, and pulmonary edema was found in the neonatal rats with BPD. The results of reference transcriptome sequencing, Quantitative real-time PCR (qPCR), and western blot showed lower pulmonary expression of TRPC3 in the BPD group than in the control group. Immunofluorescence showed predominant expression of TRPC3 in airways and pulmonary vessels, and the fluorescence intensity of the BPD group was lower than that of the control group. Lung dry-to-wet weight ratio, HE staining, and RAC value showed that the lung histomorphology significantly improved in the BPD + TRPC3 agonist group compared with the BPD group on day 14 but did not revert to the level of the control group. According to qPCR results, compared with the control group, the expression of NF-κB1 decreased and the expression of NF-κBiz increased in the BPD group, whereas the expression of NF-κBiz decreased in the BPD + TRPC3 agonist group. Therefore, we draw the conclusion that TRPC3 may activate NF-κB by inhibiting NF-κBiz to promote cell proliferation and lung growth and development.

Nephrocalcinosis is a complex disease with a multitude of triggering factors. An association with congenital hypothyroidism has been described in the literature, but the mechanisms leading to its development remain unclear. A 7-month-old infant presented with muscular hypotonia and signs of malnutrition was diagnosed with congenital hypothyroidism, nephrocalcinosis of unclear origin, and multiple kidney stones. Urine analysis revealed the presence of calcium oxalate crystals and slightly elevated oxaluria without hypercalciuria. Targeted exome sequencing found no variants in the four causative genes of primary oxaluria, namely AGXT, CBX5, GRHPR, and HOGA1. The clinical outcome was favorable with thyroid hormone and potassium citrate treatment. Ultrasound follow-up showed progressive improvement of nephrocalcinosis. The low level of urinary oxalate and the prevalence of dihydrate calcium oxalate crystals spoke against primary or secondary oxaluria. Recent evidence from mitochondrial research shows that thyroid hormone T3 enhances mitochondrial calcium levels by stimulating calcium uptake by the mitochondrial calcium uniporter. A reduced calcium uptake and metabolism in mitochondria might represent an explanation for cytoplasmic calcium accumulation in tubular cells, subsequently precipitating nephrocalcinosis in the absence of thyroid hormone. Even if the pathophysiological mechanisms are not yet fully understood, recent evidence is supportive of a causal relationship between hypothyroidism and nephrocalcinosis, a sometimes overlooked association.

Ependymin-related protein 1 (EPDR1) has been found in the secretory body of adipocytes where it plays a role in lipid binding, transportation, and catabolism. The aim of this study was to investigate serum EPDR1 levels in children with obesity and normal-weight children and to compare the levels of EPDR1 between children with obesity, with and without metabolic-associated fatty liver disease (MAFLD). Thirty-four normal-weight children and 49 children with obesity (15 with MAFLD) were included in the study. Circulating EPDR1, IL-1β, and TNF-α were measured using enzyme-linked immunosorbent assays. Anthropometric and biochemical measurements related to obesity, blood lipids, and insulin resistance were performed on all participants. The serum EPDR1 levels of children with obesity were significantly higher than those of the control group. There was no difference in EPDR1 levels between the patients with and without MAFLD. Circulating EPDR1 was positively correlated with body mass index (BMI), BMI z-score, insulin, glucose, homeostatic model assessment insulin resistance index (HOMA-IR), triglycerides, white blood cells, and neutrophils. Binary logistic regression analysis showed a significant increase in the odds ratio of obesity with increasing EPDR1 levels. EPDR1 is strongly associated with obesity and may also be associated with metabolic disorders. This trial is registered with ChiCTR2300070951.

Sleep-related disorders in children can significantly impact children's physical, emotional, and cognitive development and constitute a major source of parental concern. This comprehensive review aims to describe sleep-related disorders commonly encountered in pediatric practice, their etiology, diagnosis, and management strategies. The review explores various disorders prevalent in different age groups, including insomnia, sleep apnea, parasomnias, and circadian rhythm disorders, highlighting the importance of early identification and intervention for optimal child health and well-being.

Ultrasonography has begun to be applied to the examination of fractures in recent years owing to its safety, noninvasiveness, portability, and high sensitivity. The subcutaneous soft tissue of children is thinner than that of adults, children's bones have a high level of elasticity and a low level of brittleness, and the pediatric fractures heal quickly and produce more callus, therefore ultrasonography is a more suitable examination in pediatric bone fractures. In this paper, we intend to review the mechanism, performance, and examination effect of ultrasound examination in bone fractures, analyze the advantages and disadvantages between ultrasound imaging and X-ray imaging, and further propose an outlook for the application of ultrasound technology in pediatric bone fractures.

Although acute kidney injury (AKI) is a frequent postoperative complication after liver transplantation, renal function following living-related liver transplantation (LRLT) in infants remains understudied. The aim of this study was to identify the prevalence of AKI and the impact of AKI on outcomes in infant recipients with biliary atresia. We retrospectively reviewed infants who underwent LRLT surgery between January 2018 and January 2021. The primary outcome was the risk of postoperative AKI occurrence in the first 7 postoperative days. A multivariate regression analysis model was used to investigate risk factors for AKI, and the incidence and impacts of AKI on outcomes were analyzed. A total of 98 patients were included in the analysis. AKI occurred in 59 patients (60.2%) within 7 days after surgery. Logistic regression analysis revealed that preoperative transfusion (p < 0.05) and lower serum creatinine (SCr) (p < 0.05) were independent risk factors for AKI. The incidence of serious complications was significantly higher in the AKI group than in the non-AKI group (p < 0.05). The postoperative mechanical ventilation time (p < 0.05) and hospital stay (p = 0.019) were significantly longer in the AKI group. There was no evidence of chronic kidney disease (CKD) in any surviving infants within 1 year after surgery. In conclusion, AKI is common in infant LRLT (60.2%), and preoperative transfusion and lower SCr levels were independently associated with AKI. AKI may be associated with the incidence of serious complications, prolonged use of ventilators, and hospital stays. No CKD occurred within 1 year.

Neuroblastoma (NB) is a common extracranial solid tumor in children, and currently our understanding of the molecular mechanisms underlying tumor progression is not very thorough. In clinical practice, although the prognosis and survival rates of NB patients in the low-risk and medium-risk groups are still acceptable, the prognosis and survival rates of NB patients in the high-risk group are extremely poor. Therefore, improving awareness of NB tumors is crucial for improving the treatment status of NB patients in clinical practice. So we collected common tumor exposure factors and performed multiple Mendelian randomization (MR) analysis on NB, and ultimately determined that the increase in Resting CD4 regulatory T cell was positively correlated with the occurrence and development of NB. In addition, we also used the network pharmacology algorithm proximity to screen the NB chemotherapy drug papain and reasonably speculated that there is an interaction between papain and CD4 regulatory T cell in the chemotherapy of NB patients.

Periodontitis is a chronic inflammatory disease caused by plaque biofilm which shares risk factors with systemic chronic diseases such as diabetes, cardiovascular disease, and osteoporosis. Many studies have found increased prevalence and rate of progression of periodontal disease in children with common metabolic disorders. Although the causal relationship and specific mechanism between them has not been determined yet. The aim of this paper is to progress on the impact of metabolic disorders on periodontal health in children and the underlying mechanisms, which provides new evidences for the prevention and intervention of metabolic disorders and periodontitis in children.

Genetic defects have been increasingly found in cardiomyopathies, which are often present with mutations in cardiac contractile proteins. These congenital defects involve numerous intracellular pathways and share several critical clinical features, such as systolic or diastolic dysfunction fostering the various cardiomyopathic phenotypes. Hypertrophic cardiomyopathy and restrictive cardiomyopathy (RCM) share a common pathological feature, that is, diastolic dysfunction. Studies have shown that mutations of contractile proteins, especially myosin heavy chain and troponin, are tightly associated with diastolic dysfunction in patients with Cardiomyopathies (CMs), including pediatric patients with CM. Therapeutics, including green tea extract (epigallocatechin gallate) and mavacamten, interact directly with these contractile proteins and have shown promising results. This article will review recent and contemporary research on diastolic dysfunction in CMs, especially hypertrophic cardiomyopathy and RCM, which include their target proteins, mechanisms, clinical diagnosis, and potential therapies.

Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility. At present, there are 23 related gene abnormalities, among which FANCA is the most common. We report a case of a Chinese girl with bone dysplasia and aplastic anemia. The next-generation sequencing results showed a homozygous mutation in the FANCA gene (c.2222G > A), which was predicted to be a pathogenic mutation based on protein function. This mutation at this site has not been reported in the previous literature. The diagnosis of Fanconi anemia should be determined with combined clinical, chromosome breakage test and gene sequencing results.

Retinoic acid (RA) serves as a metabolic intermediate of vitamin A. It plays a crucial physiological role in regulating cell proliferation, differentiation, apoptosis, embryonic development, and immunomodulation. Once vitamin A enters the body in the form of retinol, it undergoes conversion into RA through the intestinal epithelium and liver. Subsequently, it interacts with retinoic acid receptors and retinoid X receptors within the cell nucleus, thereby regulating gene expression. Throughout liver development, RA exerts precise temporal control, stimulating liver growth, inducing RALDH2 expression in liver somatic epithelial cells, and influencing hepatocyte differentiation. Recent studies have consistently demonstrated the indispensable connection between RA deficiency and the development of liver diseases, including nonalcoholic fatty liver disease, chronic hepatitis, liver fibrosis, and liver tumors. Studying the mechanisms underlying the relationship between RA and disease can enhance our understanding and improve disease treatment. This paper provides a comprehensive review of the role of RA signaling in liver development and liver diseases.

Benign convulsions with mild gastroenteritis (CwG) characterized by afebrile seizures that occurred in the acute period of mild gastroenteritis often occur in infancy and toddlers. Until now, it has not been well acknowledged and thereby classified by the International League against Epilepsy (ILAE) as epilepsy syndrome or acute symptomatic seizures (ASS). Thus far, accumulating data suggest that CwG could fit all the mandatory criteria of ASS from the aspects of pathogenesis, clinical manifestations, and outcomes, rather than epilepsy in spite of the rare cases developing epilepsy over time. This review provides a comprehensive picture of this entity aiming to facilitate the pediatricians, particularly for general practitioners, to better recognize this unique entity and, ultimately, to minimize unnecessary evaluation and treatment.

This research meticulously explores the diverse factors influencing the occurrence of Hirschsprung-associated enterocolitis (HAEC) subsequent to surgical interventions for congenital megacolon. Considering that Hirschsprung's Disease (HSCR) management predominantly necessitates excision of the aganglionic intestinal segment, the study specifically delineates the correlation between the extent of the excised intestinal segment and the HAEC risk post-surgery. An analysis of clinical data from 505 patients spanning 2012–2022 enabled a comparison of clinical attributes between patients with and without postoperative HAEC, the application of statistical analyses to identify factors significantly correlating with HAEC, and the determination of independent risk factors via a Logistic regression model. Findings indicate a significant association between preoperative conditions, HSCR variants, and the excised intestinal segment's length with HAEC risk, identifying resection length and albumin levels as independent risk factors. Notably, an increase in resection length by 1 cm correlates with a 9.8% rise in postoperative HAEC risk, whereas a 1 g/L elevation in albumin levels corresponds to a 5.6% risk reduction. Subgroup analyses reaffirm that, across all HSCR variants, an extended resection length significantly elevates HAEC risk. This study underscores the critical roles of albumin levels and the length of the resected intestinal segment as independent risk factors for HAEC post-congenital megacolon surgery, providing essential insights for clinical strategies aimed at mitigating HAEC risk and enhancing patient care outcomes.

The clinical appearances of Pyogenic granuloma (PG) in children are not as typical as in adults. Meanwhile, skin biopsy is hard to accept for parents in most of time. Therefore, data of PG in children has been deprived. To analyze the dermoscopic features of PG in children in order to improve the efficiency of diagnosis and treatment and to reduce the probability of invasive examination. A single-center retrospective study conducted from 1 January 2022 to 30 August 2022 summarized and analyzed the clinical data and dermoscopic features of patients clinically diagnosed with PG. A total of 36 patients were involved, 61.11% were males, 72.22% occurred in the face. Over 50% patients had the following dermoscopic patterns: reddish homogeneous area (100%), white collarette (91.7%), yellow-white scales (69.4%), vascular structures (52.8%), and white rail lines (55.6%). Regression analysis found that gender and courses of disease had a statistically significant impact on part of the dermoscopic patterns. The proportions of dermoscopic features with yellow-white scales (69.4%), dark red scabs (27.8%), and bleeding (27.8%) in this study were higher than in previous studies (26.7%, 10%, and 10%, respectively). Dermoscope is a practical diagnostic tool for PG in children. It is necessary to consider gender, disease course and lesion locations when PG is diagnosed using dermoscope. The characteristics of yellow-white scales, dark red scabs, and bleeding are the microscopic features that distinguish pediatric patients with PG from adult patients, which should be given special attention to in pediatric patients.

Asthma control in children is often challenging. This retrospective cohort study aimed to investigate the potential contribution of small airway function in predicting asthma control within a 2- to 3-month period following the initial diagnosis in preschool children with asthma. A total of 219 preschool children diagnosed with asthma were enrolled, and their follow-up was conducted by pediatric pulmonary physicians. Clinical history and lung function results were collected for analysis. To identify risk factors associated with poor asthma control, a multivariable regression model was employed. Sixty-nine of the patients (31.5%) exhibited poor asthma control. Poor adherence to therapy (14.5% vs. 6.0%, p = 0.038) and the presence of severe airway hyperresponsiveness (AHR) (20.6% vs. 1.6%, p < 0.001) were more prevalent in the group with poor control. Additionally, baseline forced expiratory volume in 1 s in predicting (94.5% vs. 101.4%, p = 0.001), forced expiratory flows (FEF)₅₀% (66.1% vs. 86.0%, p < 0.001), FEF₇₅% (60.9% vs. 75.3%, p = 0.001), and FEF_25–75% (70.9% vs. 86.0%, p < 0.001) were significantly lower in the poorly-controlled group than those of well-controlled group. There was no significant difference in forced vital capacity in predicting (FVC%) between the two groups (92.4% vs. 96.7%, p = 0.093). Multivariable regression model unveiled initial severe AHR (OR 8.595, 95%CI 1.241–59.537, p = 0.021) and decreased FEF₅₀% (OR 0.971, 95%CI 0.949–0.994, p = 0.012) were significantly associated with short-term poor asthma control. Preschool children with asthma who exhibites initial severe AHR and/or decreased FEF₅₀% faces an elevated risk of encountering poor asthma control during the subsequent 2–3 months.

The incidence rate of spinal cord injury in children is lower than that in adults, accounting for about 5% of all spinal cord injuries. Motor vehicle accidents are the main cause of spinal cord injuries in children. As the spine of children is still in the process of growth and development, the anatomical structure and biomechanics have unique characteristics, and its etiology, injury site, and clinical manifestations are different from those of adults. Misdiagnosis and delayed diagnosis can lead to severe spinal deformity and neurological complications. Children and adolescents with spinal cord injuries may suffer from lifelong disability, which will do great harm to children, families, and society. Early magnetic resonance imaging examination can effectively avoid underdiagnosis of spinal cord injury without radiographic abnormality and select appropriate treatment. In addition, it is also important to establish a family-centered rehabilitation model to help the affected children reintegrate into society and achieve the goal of returning to normal life. This article reviews the etiology, epidemiology, clinical characteristics, complications, and treatment of spinal cord injury in children and adolescents.

Presbyacusis, sudden sensorineural hearing loss (SNHL), noise-induced hearing loss, and drug-induced deafness are the most common types of acquired SNHL. At present, the diagnosis of these hearing disorders is mainly based on the medical history and audiological examination. Due to the lack of diagnostic biomarkers, diagnosis of acquired sensorineural hearing loss is difficult. Previous studies have suggested that microRNAs (miRNAs) serve essential roles in pathophysiological processes, and they are stable, tissue enriched, and could be determined in a quantitative manner. Therefore, they could be potential noninvasive biomarkers for acquired SNHL. This review provided a comprehensive overview of the similarities and differences in altered circulating miRNAs (cimiRNAs) (plasma, serum, whole blood, and perilymph) in various disorders, and highlighted the regulatory functions of cimiRNAs on the development, monitoring and prognosis of the four most common types of acquired SNHL.

Early postnatal alcohol exposure can have negative impacts on neonatal rat brain development and function. Our research explored the impacts of alcohol exposure from postnatal day 4 to PD9 on Sprague‒Dawley rat pups. Pups were intragastrically administered with either an alcohol milk solution or a pure milk solution twice daily. On PD10, brains were analyzed via histological and biochemical methods. Alcohol exposure led to growth impairment, behavioral abnormalities, and cognitive deficits. It also reduced microglial numbers in the hippocampus while activating the remaining microglia to secrete IL-6. In addition, alcohol induced the upregulation of pro-apoptotic factors and downregulation of the anti-apoptotic protein BCL-2 in the hippocampus by activating the JAK/STAT/SOCS3 signaling pathway. Similar effects were observed in vitro when BV-2 cells were exposed to ethanol and HT-22 cells were exposed to IL-6. The drug AG490, a STAT3 inhibitor, mitigated IL-6-induced JAK/STAT activation and neuronal apoptosis in HT-22 cells. Overall, these findings demonstrate that early-life alcohol exposure triggers an inflammatory microglial response involving the release of IL-6, which activates JAK/STAT signaling, leading to hippocampal neuronal apoptosis and developmental/cognitive impairments. AG490 may disrupt this inflammatory signaling cascade and cause neuronal damage.

Vitamin D plays a vital role in immunity and is related to susceptibility and the severity of pneumonia. The home confinement caused by the novel coronavirus disease (COVID-19) decreased sunlight exposure derived from outdoor activities in children, thereby possibly exerting an influence on 25-hydroxyvitamin D [25(OH)D] levels. The aim of this study is to quantify vitamin D level changes and trends among infants and toddlers with community-acquired pneumonia (CAP) during and post the home confinement period. This study included children who were hospitalized in the respiratory department of the Children's Hospital of Chongqing Medical University with CAP between February 1 and July 31 from 2020 to 2022 (N = 397). We used propensity score matching to control the confounding bias. The levels and trends of the children's serum 25(OH)D concentrations overall and by age groups were compared between the different periods. The serum 25(OH)D concentration during the home confinement period was lower (p < 0.05) but was still at the vitamin D sufficiency level. There was a gradual decrease in the 25(OH)D concentrations in the subsequent several months after the beginning of home confinement, and the recovery time was delayed. When analyzed by age group, the serum 25(OH)D concentration of the toddler group changed more significantly than that of the infant group between the different periods. The insufficiency of sunlight exposure caused by home confinement resulted in a slight and gradual decrease in vitamin D levels among children with CAP. In addition, the impact was more significant for toddlers.

This study aimed to visualize the knowledge structure and research trends in neonatal sepsis research through bibliometric methods. Articles and reviews regarding neonatal sepsis from 2002 to 2022 were retrieved from the Web of Science Core Collection database. CiteSpace software was used to visualize the knowledge network of countries/regions, institutions, authors, journals, keywords, and references in this field. Altogether, 2314 publications were identified. During the study period, the number of publications increased yearly. The USA is the leading country in neonatal sepsis research. Duke University was the most prolific institution, with Pediatric Infectious Disease Journal and BASU S being the most prolific journal and author in the field, respectively. Pathogen, diagnosis, and management were the main topics of research, and future studies may concentrate on novel diagnostic biomarkers and judicious use of antibiotics. In summary, the results of our bibliometric analysis revealed views on the current situation and trends of neonatal sepsis research for the first time. This study may provide guidance for promoting research on neonatal sepsis.

Bacterial meningitis (BM) is potentially life threatening in neonates, but the duration of antibiotic therapy is not well established. We aimed to compare the efficacy and safety among neonates suffering from BM of a relatively shortened duration of antibiotic treatment to the currently recommended course. We did a retrospective cohort study in neonates (gestational age [GA] or corrected GA ≥35 weeks) diagnosed with BM. Neonates in the study group were assigned to withdraw the antibiotics on condition that they were clinically stable after taking sufficient antibiotics with normal serological inflammatory biomarkers, whereas the cerebrospinal fluid (CSF) indicators remain abnormal. Neonates in the control group were treated until both serological and CSF indicators returned to normal as recommended. The incidence of recurrent infection after the discontinuation of antibiotics and adverse drug reactions (ADRs) during hospitalization was measured. A total of 233 neonates were enrolled, of whom 160 were assigned to a shortened antibiotic duration and 73 were treated according to the current guidelines. Twelve patients (7.5%) relapsed in the study group, whereas 4 (5.5%) relapsed in the control group (χ² = 0.320, p = 0.572). The incidences of ADRs were similar in both groups (p > 0.05). The study indicates that antibiotics might be safely discontinued in neonates (GA ≥35 weeks) diagnosed with BM who are clinically stable or improving after antibiotic treatment and feature normal serological inflammatory markers, no severe complications, and no evidence of systemic infection, even if CSF parameters are not completely normal.