20p chromosome inverted duplication syndrome with phenotypes of congenital heart disease, anorectal malformation and megacolon.

20p chromosome inverted duplication deletion syndrome is a rare chromosomal disorder in which the short arm segment 20p11.2-p13 and the deleted subtopic region 20p13-20 replicate simultaneously. Patients with this syndrome are mainly presented with intellectual disability and motor development delay.

A Long-Term Follow-Up Study of Serum NFATc3 Levels in Pediatric Patients with Bronchial Asthma: A Prospective Observational Case-Control Investigation.

The early and precise diagnosis of asthma significantly impacts the long-term health outcomes of pediatric patients. The sensitivity and specificity of current biomarkers, however, are frequently limited. Our study aimed to evaluate the clinical significance of nuclear factor of activated T cells, cytoplasmic 3 (NFATc3), in pediatric bronchial asthma, focusing on its diagnostic and prognostic value for disease severity and recurrence.

Inhibition of Candida albicans virulence by moscatin from Dendrobium nobile lindl.

Candida albicans infection poses a significant global health threat. It is imperative to exploit new antifungal agents against C. albicans infections without leading to drug resistance, so that these potential agents can complement or combine with current medications to effectively treat diseases caused by C.

Pre-diagnostic trajectory of pediatric hemophagocytic lymphohistiocytosis: observations from hematological and hepatic parameters.

Understanding the early features and characteristics of hemophagocytic lymphohistiocytosis (HLH) is essential for identifying high-risk individuals and also providing valuable pathological insights. This study aims to investigate the characteristics and trends of blood and hepatic parameters before an HLH diagnosis was established. Longitudinal hematological and hepatic test results from pediatric patients with HLH and an age- and sex-matched control group were analyzed.

Microstructural abnormalities of the right hemisphere in preschool autism spectrum disorders.

Background: This study aims to investigate microstructural abnormalities within and between hemispheres in preschool children with autism spectrum disorders (ASD) using diffusion basis spectrum imaging (DBSI).

Methods: A total of 35 ASD patients and 32 healthy controls (HC), matched for sex and age, underwent DBSI at 3T. We analyzed DBSI-derived indices of brain white matter using tract-based spatial statistics (TBSS) to compare ASD and HC groups.

Spleen aminopeptides (FUKETUO) elevate the therapeutic effect of house dust mite desensitization on allergic asthma by inducing interleukin-10 positive regulatory T cells (IL-10 Tregs) expression.

Background: As a novel immunomodulator, spleen aminopeptides (FUKETUO) can correct the imbalance of immune cells and elevate their functions. Spleen aminopeptides have been used in the treatment of respiratory diseases. However, the regulatory mechanism of it on allergic asthma and desensitization has not been reported, further study is critically needed.

[Correlation between the nucleic acid load of and clinical features and severity of illness in infants and young children with wooping cough].

To study the correlation between the level of Bordetella pertussis nucleic acid and clinical features of the disease in infants and young children and to investigate the risk factors for the development of severe pertussis. Using retrospective research methods, children aged 1 month-3 years who came to Hunan Children's Hospital from August 2023 to February 2024 and were diagnosed with pertussis for analysis. According to the logarithmic value of BP-DNA (log copies/ml), 35 cases were divided into the low load group, 78 cases were divided into the medium load group and 94 cases were divided into the high load group; 54 cases were divided into the severe whooping cough group and 153 cases were divided into the general group according to the severity of the disease; the clinical characteristics and laboratory data of the groups were compared, and the risk factors for the occurrence of severe whooping cough were analyzed at the same time.

Incidence and Predictors of HBsAg Loss in Paediatric Patients With Chronic Hepatitis B Undergoing Antiviral Treatment.

Background And Aims: Achieving HBsAg loss is a critical clinical milestone in the management of chronic hepatitis B (CHB) towards the eradication of hepatitis B. However, there are limited researches on the incidence and determinants of HBsAg loss in paediatric CHB patients undergoing antiviral treatment. Therefore, we aimed to analyse the incidence and potential determinants of HBsAg loss in children who suffered from CHB and received antiviral treatment.

CARD9 promotes cholangiocarcinoma by regulating the IL-17A/Hedgehog and the THEM4/AKT/mTOR signaling pathways.

Cholangiocarcinoma (CCA) is a highly lethal malignant tumor originating from the bile duct, and its underlying mechanisms are not fully understood. In order to identify key genes in CCA, we downloaded gene expression data from public GSE76297, GSE26566 and TCGA-CHOL datasets. CARD9 was selected as a CCA-related gene from the datasets.

Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by mutations in the dystrophin gene, causing motor and pulmonary function decline. Viltolarsen is indicated for patients with dystrophin gene mutations amenable to exon 53 skipping. Here, we report safety, motor function, and the first pulmonary function results from the open-label, phase II Galactic53 trial of viltolarsen (NCT04956289).

Endovascular treatment in pediatric stroke: an individual patient pooled analysis on presentation, management and outcomes.

Background: This study aimed to perform a comprehensive pooled analysis of all published series involving pediatric patients with large vessel occlusion (LVO) undergoing endovascular treatment (EVT) to study the disease landscape including presentation, management, and outcomes.

Methods: The data used in this study were pooled from published literature on EVT for pediatric stroke spanning from 1980 to 2023. The relevant articles were carefully reviewed, and only those reporting at least one case of pediatric LVO undergoing EVT were included.

LncRNA MALAT1 to Enhance Pyroptosis in Viral Myocarditis Through UPF1-Mediated SIRT6 mRNA Decay and Wnt-β-Catenin Signal Pathway.

Viral myocarditis (VMC) is an inflammatory disease of the myocardium caused by cardioviral infection, especially coxsackievirus B3 (CVB3), and is a major contributor to acute heart failure and sudden cardiac death in children and adolescents. LncRNA MALAT1 knockdown reportedly inhibits the differentiation of Th17 cells to attenuate CVB3-induced VMC in mice. Moreover, long non-coding RNAs (lncRNAs) interact with RNA-binding proteins (RBPs) to regulate UPF1-mediated mRNA decay.