Hematopoietic stem cell transplantation (HSCT) is curative in patients with primary immunodeficiency syndrome. The safety and efficacy of HSCT as a therapeutic option for primary immunodeficiency diseases (PID) have been studied by many research groups. The purpose of our study was to perform a bibliometric analysis of research on HSCT for the treatment of PID, to assess research trends in this field, and note future research priorities. The Web of Science Core Collection (WOSCC) was used to identify relevant publications. VOSviewer and CiteSpace software were used to analyze bibliometric parameters, such as yearly records, authors, grouped authors, countries, institutions, categories and keywords. There are 602 relevant records for the last decade (2013–2022). The top 5 productive authors and high-quality paper journals are listed. Reference co-citations analysis demonstrated recent research trends were “inborn errors of immunity,” “gene editing,” and “enteropathy.” Research on HSCT for the treatment of PID has increased rapidly in the last decade, and bibliometrics are valuable for researchers to obtain an overview of hot categories, academic collaborations and trends in this study field.

Objectives To describe the status of coronavirus disease 2019 (COVID‐19) vaccination with inactivated vaccines BBIBP‐CorV and CoronaVac in Chinese children aged 3–7 years with bronchopulmonary dysplasia (BPD), and explore factors influencing vaccination and reasons for nonvaccination. Methods This cross‐sectional study involving parents of 397 BPD children aged 3–7 years was conducted through WeChat or follow‐up telephone interviews using a standardized questionnaire form. Factors influencing COVID‐19 vaccination were explored by using modified Poisson regression models. Results The overall COVID‐19 vaccination rate was 69.0% (95% confidence interval: 64.3%–73.4%). COVID‐19 vaccination was less likely to be accepted in children whose mothers had a relatively high educational background (university and above), who lived in urban areas and had a low birth weight (<1 kg), a history of hospitalization for lung diseases in the past 12 months, and intellectual disability. Conversely, kindergarten students and children from families with an annual income of >300,000 CNY (≈ $\approx $41,400 USD) were more likely to accept vaccination. Adverse reactions occurred in 13/274 children (4.7%) within 10 days after vaccination. With respect to reasons of not accepting COVID‐19 vaccination, 95 parents (77.2%) worried about the adverse reactions, and 17 parents (13.8%) refused vaccination on the excuse of not being convenient to go to the vaccination station or not knowing where to get the vaccines. Conclusions The COVID‐19 vaccination rate in BPD children aged 3–7 years needs to be further improved in China. Continuous efforts are required to monitor postvaccination adverse reactions in BPD children, and make vaccination more convenient and accessible.

Background: Genetic causes in most affected children with intellectual disability and/or development delay remain unknown.Methods: To identify potential variants responsible for these disorders, we recruited 161 affected families and performed whole-exome sequencing and associated bioinformatics analysis.Results: In the present study, we report the identification of variants in the ALG13 gene in two of the families. In family 1, a known pathogenic missense variant (c.23T &gt; C; p.V8A) of ALG13 was identified in a boy and his mother. In family 2, a novel missense variant (c.862C &gt; G; p.L288V) of the same gene was identified in the affected boy and his phenotypically normal mother. Genotype–phenotype correlation analysis by comparing reported 28 different variants (HGMD) showed that three major phenotypes, including various seizures/epilepsy, intellectual disability, and development delay (such as growth, speech, motor, etc.), are present in most affected individuals. However, other phenotypes, such as strabismus and absence of seizure in our second patient, are not reported if any, which may represent a unique case of X-linked recessive nonsyndromic disorder caused by a mutation in ALG13.Conclusion: We identified two missense variants in ALG13 in a cohort of 161 families with affected individuals diagnosed as intellectual disability and/or development delay. A novel c.862C &gt; G mutation may represent a case of X-linked recessive.

Background: Neonatal diseases are a significant threat to global public health, resulting in the disturbance of normal homeostatic well-being in affected patients and reflecting the status of, and challenges to, regional, national, and global healthcare systems. Objectives: To investigate the disease spectrum observed among neonatal inpatients changed after COVID-19 breakout. Methods: The present hospital-based retrospective study analyzed the demographic and clinical characteristics of 19,943 newborns who were hospitalized from January 2018 to December 2022 using data derived from pediatric department registers. Results: According to the ICD-11 classification criteria, the two most common neonatal disorders during this study period were “Certain conditions originating in the perinatal period” and “Disease of the respiratory system”. Following the start of the COVID-19 pandemic, the number of neonatal patients declined markedly, and the proportion of newborns assigned the “Disease of the respiratory system” ICD-11 classification similarly decreased. Discusssion and Conclusions: The present study retrospectively analyzed these neonatal disease characteristics at our hospital in greater detail, providing a foundation for future research and policymaking efforts.