Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.

Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1-2% of children worldwide, which have diverse genetic causes that should be identified. Genetic studies can elucidate the pathogenesis underlying DD/ID. In this study, whole-exome sequencing (WES) was performed on 225 Chinese DD/ID children (208 cases were sequenced as proband-parent trio) who were classified into seven phenotype subgroups. The phenotype and genomic data of patients with DD/ID were further retrospectively analyzed. There were 96/225 (42.67%; 95% confidence interval [CI] 36.15-49.18%) patients were found to have causative single nucleotide variants (SNVs) and small insertions/deletions (Indels) associated with DD/ID based on WES data. The diagnostic yields among the seven subgroups ranged from 31.25 to 71.43%. Three specific clinical features, hearing loss, visual loss, and facial dysmorphism, can significantly increase the diagnostic yield of WES in patients with DD/ID (P = 0.005, P = 0.005, and P = 0.039, respectively). Of note, hearing loss (odds ratio [OR] = 1.86%; 95% CI = 1.00-3.46, P = 0.046) or abnormal brainstem auditory evoked potential (BAEP) (OR = 1.91, 95% CI = 1.02-3.50, P = 0.042) was independently associated with causative genetic variants in DD/ID children. Our findings enrich the variation spectrums of SNVs/Indels associated with DD/ID, highlight the value genetic testing for DD/ID children, stress the importance of BAEP screen in DD/ID children, and help to facilitate early diagnose, clinical management and reproductive decisions, improve therapeutic response to medical treatment.

Research hotspots and emerging trends in mesenchymal stem/stromal cells in bronchopulmonary dysplasia.

Bronchopulmonary dysplasia (BPD) is a prevalent lung disease in neonates that is associated with numerous complications and high mortality. The promising approach to treat BPD is the use of mesenchymal stem cells (MSCs), However, the current treatment of MSCs presents safety concerns, including occlusion of blood vessels and tumorigenicity. In this study, relevant publications from the Web of Science Core Collection were downloaded in January 2023. The acquired data were analyzed and predicted for trends and hotspots in this field using CiteSpace software. Results revealed that in recent years, the focus of co-cited references has been primarily on the clinical studies of MSCs and the application of MSCs derivatives for treating BPD models. The keywords that have gained attention are extracellular vesicles and exosomes. The United States has emerged as the most influential co-authoring country in this field. Among the co-cited journals, the American Journal of Respiratory and Critical Care Medicine holds the highest influence. Thus, this study provides trends in publications, collaboration, research interests, and hotspots, and provides clues for novel ideas and strategies in to further MSCs treatments for BPD.