Beijing Children’s Hospital

Body Composition–Driven Phenotyping Reveals Obesity and Cardiometabolic Heterogeneity in Children Using a Tree-Like Representation

Traditional measures such as BMI do not fully capture obesity-related metabolic risks. Here, we examined DXA-derived body composition patterns in children (n = 11,238) using the discriminative dimensionality reduction tree algorithm, which was validated in an independent cohort (...

A de novo IKZF4 Variant Underlies Hypogammaglobulinemia and Increased Infection Susceptibility through Downregulating the NF-κB Pathway

Inborn errors of immunity (IEI) are a group of complex diseases characterized by reduced immunity and increased susceptibility to external pathogens, autoinflammation, autoimmune conditions, and/or malignancy. The IKAROS zinc-finger ( IKZF ) family is a group of C2H2 zinc-finger...

Machine learning-based prediction of postoperative restenosis risk following direct repair of paediatric coarctation of the aorta

OBJECTIVES: Coarctation of the aorta is a congenital cardiovascular disease with focal aortic luminal narrowing, and paediatric patients face a high postoperative restenosis risk. This study aimed to develop and validate an interpretable machine learning model for early predictin...

18F-FDG PET/CT-based Metabolic-clinical prognostic model could refine risk stratification in high-risk neuroblastoma

The prognosis of high-risk neuroblastoma (NB) is highly heterogeneous, underscoring the necessity of refining risk stratification to guide precision treatment and improve outcomes. The aim of this study was to construct an 18 F-FDG PET/CT-based Metabolic-clinical prognostic model...

Subcutaneous Belimumab Demonstrates Consistent Steady-State Pharmacokinetics and is Well Tolerated in Paediatric Patients with SLE in China: An Open-Label Study

This study assessed pharmacokinetics and safety of subcutaneous (SC) belimumab in Chinese paediatric patients with systemic lupus erythematosus (cSLE) who previously received intravenous (IV) belimumab; only the IV form is approved for cSLE in China. This single-arm, open-label,...

Treatment outcomes and safety of telitacicept in reducing proteinuria and hematuria for refractory childhood IgA vasculitis nephritis

IgA vasculitis nephritis (IgAVN) is one of the most prevalent glomerulopathies in children. However, therapeutic options remain constrained. This study endeavors to elucidate the efficacy and safety of telitacicept in IgAVN children. This study encompassed 19 biopsy-confirmed IgA...

Severe skeletal and renal complications in SLC4A1-related distal renal tubular acidosis following prolonged treatment interruption: a case report highlighting transition-related vulnerability

Abstract Background SLC4A1-related distal renal tubular acidosis (dRTA), caused by dysfunction of the anion exchanger 1 (AE1), is typically associated with a relatively mild and late-onset phenotype. However, outcomes may vary substantially, particularly in the setting of delayed...

Comprehensive genomic characterization of extraintestinal pathogenic Escherichia coli isolated from neonates: multiple center insights into virulence, resistance, and transmission dynamics

Neonatal extraintestinal pathogenic Escherichia coli (ExPEC), which can cause severe long-term sequelae by systemic infections, is gradually becoming the primary pathogen threatening neonatal health. The lack of large-scale genomic epidemiological investigation hinders further un...