Inherited retinal diseases (IRDs) are the major cause of refractory blinding eye diseases, and gene replacement therapy has already made preliminary progress in the treatment of IRDs. For IRDs that cannot be treated by gene replacement therapy, gene editing provides an alternative therapeutic method. Strategies like disruption of pathogenic variants with or without gene augmentation therapy and precise repair of pathogenic variants can be applied for IRDs with various inheritance patterns and pathogenic variants. In animal models of retinitis pigmentosa, Usher syndrome, Leber congenital amaurosis, cone rod cell dystrophy, and other disorders, CRISPR/Cas9, base editing, and prime editing showed the potential to edit pathogenic variations in vivo, indicating a promising future for gene editing therapy of IRDs.

Objective:To deeply explore the clinical features and gene mutations of Waardenburg syndrome (WS) by tested of the eyes and genes of three patients.Methods:A Case series study. From 2019 to 2021, 3 children with WS who were diagnosed at Department of Ophthalmology, West China Hospital of Sichuan University were included in the study. Among them, there were 2 males and 1 female; the ages were 3, 4, and 12 months, respectively. All children underwent external eye, anterior segment, fundus and fluorescein fundus angiography, the clinical features of the eyes were observed. The peripheral venous blood of 3 children was collected, and the whole genome DNA was extracted for whole exome sequencing to analyze the gene mutation sites.Results:All children had different degrees of iris heterochromia and fundus pigment abnormalities, and were accompanied by sensorineural hearing impairment. Case 1 had dystopia canthorum; case 2 had macular fovea hypoplasia. The sequencing results of case 1 showed that there were large fragments of heterozygous deletion in exons 2-8 of the Paired box 3 ( PAX3) gene, who was diagnosed as WS Ⅰ type. The sequencing results of of case 2 showed heterozygous mutation in exon 9 of Microphthalmia-associated transcription factor ( MITF) gene (c.1066 C >T), combined with heterozygous mutation in exon 1 of HPS6 gene (c.1417 G> T), who was diagnosed as WS Ⅱ type. The sequencing result of case 3 showed that the exon 3 of SOX10 gene had loss of heterozygosity (c.497_500 delAAGA), who was diagnosed as WS Ⅳ type. Both PAX3 and SOX10 gene mutations were newly discovered mutations. Conclusions:The ocular clinical features of Waardenburg syndrome include hypopigmentation of the iris and choroid, and dystopia canthorum, etc. Early screening of the eye and hearing will help to better diagnose the disease. The large fragments of heterozygous deletion in exons 2-8 of the PAX3 gene, the heterozygous mutation in exon 9 of MITF gene (c.1066 C> T), and the loss of heterozygosity in exon 3 of SOX10 gene are pathogenic genetic variations of 3 children.

Objective:To explore the status quo of the independent work readiness of newly recruited pediatric nurses and analyze its influencing factors, so as to provide a reference for improving the independent work readiness of newly recruited pediatric nurses.Methods:This study was a cross-sectional study. From July to December 2021, 600 newly recruited pediatric nurses from 18 ClassⅢ children's hospitals in China were selected as the subject by convenience sampling. The nurses were investigated by using the General Information Questionnaire, Self-assessment New Nurses' Independent Competence Questionnaire, Chinese version of Utrecht Work Engagement Scale (UWES) , and Chinese version of Psychological Capital Questionnaire (PCQ) . Hierarchical regression analysis was used to explore the influencing factors of the independent work readiness of newly recruited pediatric nurses. A total of 600 questionnaires were distributed, and 587 valid questionnaires were recovered, with a valid recovery rate of 97.8%.Results:Among 587 newly recruited pediatric nurses, the total score of the Self-assessment New Nurses' Independent Competence Questionnaire was (141.61±13.28) , and the average score of the items was (2.83±0.39) . Pearson correlation showed that the total score and each dimension score of the self-assessment New Nurses' Independent Competence Questionnaire were positively correlated with the total score and each dimension score of the UWES and the PCQ, and the difference was statistically significant ( P<0.05) . Hierarchical regression analysis showed that work engagement and psychological capital were the influencing factors of the independent work readiness of newly recruited pediatric nurses with a statistical difference ( P<0.05) , among which work engagement and psychological capital could independently explain 29.9% of the variation of the independent work readiness of newly recruited pediatric nurses. Conclusions:The readiness for independent work of newly recruited pediatric nurses is at a medium low level. Work engagement and psychological capital are the influencing factors of independent work readiness of newly recruited pediatric nurses. The work engagement and psychological capital of newly recruited pediatric nurses can be improved to increase their independent work readiness.