Surgical treatment experience of seven cases of Berry syndrome.

Objective: Berry syndrome is a group of rare congenital cardiac malformations including aortopulmonary window (APW), aortic origin of the right pulmonary artery (AORPA), interruption of the aortic arch (IAA), patent ductus arteriosus (PDA) (supplying the descending aorta) and intact ventricular septum. This paper will analyze the clinical data of 7 patients with Berry syndrome who underwent surgical treatment in our institution and discuss the one-stage surgical correction of Berry syndrome in combination with the literature.

Methods: From January 2013 to July 2024, a total of 7 children with Berry syndrome were admitted to the Cardiac Surgery Department of Beijing Children's Hospital.

Protective efficacy of a universal influenza mRNA vaccine against the challenge of H1 and H5 influenza A viruses in mice.

Current influenza vaccines need to be updated annually owing to constant antigenic drift in the globular head of the viral surface hemagglutinin (HA) glycoprotein. The immunogenic subdominant stem domain of HA is highly conserved and can be recognized by antibodies capable of binding multiple HA subtypes. Therefore, the HA stem antigen is a promising target for the design of universal influenza vaccines.

Single-cell RNA sequencing of retina revealed novel transcriptional landscape in high myopia and underlying cell-type-specific mechanisms.

High myopia is a leading cause of blindness worldwide with increasing prevalence. Retina percepts visual information and triggers myopia development, but the underlying etiology is not fully understood because of cellular heterogeneity. In this study, single-cell RNA sequencing analysis was performed on retinas of mouse highly myopic and control eyes to dissect the involvement of each cell type during high myopia progression.

Enhanced pharmacokinetics and reduced bleeds in boys with hemophilia A after switching to Kovaltry from other standard half-life factor VIII concentrates.

Background: BAY81-8973 (Kovaltry; Bayer, Berkeley, CA, USA) was reported with enhanced pharmacokinetic (PK) profiles compared with some other standard half-life (SHL) factor VIII (FVIII) concentrates. Limited head-to-head comparative studies were conducted in a real-world setting.

Objective: To make head-to-head comparisons of PK and clinical outcomes between Kovaltry and three other SHL FVIII concentrates.

Immune cell landscape and immunotherapy of medulloblastoma.

Medulloblastoma is the most common primary pediatric malignancy of the central nervous system. Recurrent and refractory patients account for approximately 30% of them. Immune cells are an important component of the brain tumor microenvironment, including tumor-associated macrophages, T lymphocytes, natural killer cells, dendritic cells, neutrophils and B lymphocytes.

Subungual exostosis of the finger in an 8-year-old girl.

Introduction: Subungual exostosis (SE) is a relatively uncommon benign bone tumor that occurs in the distal phalanges of the toes or fingers.

Case Presentation: An 8-year-old girl presented for treatment of an acquired mass on the distal right index finger. The patient was preoperatively diagnosed with a benign bone tumor.

Challenges and opportunities for managing pediatric central nervous system tumors in China.

Central nervous system (CNS) tumors represent the most deadly cancer in pediatric age group. In China, thousands of children are diagnosed with CNS tumors every year. Despite the improving socioeconomic status and availability of medical expertise within the country, unique challenges remain for the delivery of pediatric neuro-oncology service.

A New Approach Is Needed to Evaluate 24-Hour Urinary Sodium Excretion Using Spot Urines: A Validation Study in a Chinese Child Population.

Background Accurate assessments of sodium intake in children are important for the early prevention of cardiovascular disease. There is currently no accurate simple and feasible sodium intake approach for children. This study intends to validate the accuracy of 24-hour urinary sodium excretion (UNaV) estimation in children using 3 common formulas: the Kawasaki, INTERSALT (International Cooperative Study on Salt, Other Factors, and Blood Pressure), and Tanaka formulas.

Variant analysis of the chromodomain helicase DNA-binding protein 7 in pediatric disorders of sex development.

Importance: This study investigated the role of the chromodomain helicase DNA-binding protein 7 () in disorders of sex development (DSD).

Objective: We aimed to present the potential pathogenicity of variants in pediatric patients with DSD.

Methods: Choosing cases with variants from DSD patients in Beijing Children's Hospital to assess for the study.

New biomarkers of Kawasaki disease identified by urine proteomic analysis.

Kawasaki disease (KD) is an acute systemic vasculitis that mainly afflicts infants and young children. The symptoms of KD are similar to those of various febrile diseases. Here, we attempted to develop accurate diagnostic biomarkers of KD by performing urine proteomic analysis of samples from healthy controls, patients with KD, and patients with another febrile disease, pneumonia (two patients).

Rare compound heterozygous mutations in gene cause constitutive mismatch repair deficiency syndrome.

Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9-year-old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next-generation sequencing, and compound heterozygous mutations in gene c.

MEK inhibitor can reverse the resistance to bevacizumab in A549 cells harboring Kirsten rat sarcoma oncogene homolog mutation.

Background: Bevacizumab (BV) is broadly used to treat a number of cancers; however, BV resistance mechanisms and strategies to overcome this resistance are yet to be determined.

Methods: We established xenograft mice models harboring Kirsten rat sarcoma oncogene homolog (KRAS) mutations based on the A549 cell line, and tested the responses of xenograft tumors to a series of drugs in ex vivo and in vivo experiments. Changes in transcriptive level were analyzed by ribonucleic acid (RNA) sequencing and the expressions of connexins were determined by immunohistochemistry staining.

Genome-wide screen of promoter methylation identifies novel markers in diet-induced obese mice.

Objective: To investigate the genome-wide promoter methylation and gene expression for the identification of methylation markers in obesity.

Methods: Using a high-fat, diet-induced obese mouse model, we performed comprehensive DNA methylation profiling of gene promoters to determine the differentially methylated genes using methylated DNA immunoprecipitation followed by hybridization to the NimbleGen MM8 CpG plus Promoter Microarray. We further integrated epigenomics data with gene expression profiling to identify promoters exhibiting an association between methylation status and the expression of downstream genes.