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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.