Adolescent ; Child ; DNA Mutational Analysis ; Genetic Testing ; methods ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Mutation ; Nephrotic Syndrome ; congenital ; diagnosis ; genetics ; Phenotype ; Polymerase Chain Reaction

Objective:To explore the behavioral preferences of pregnant women in Quzhou to obtain newborn health information, so as to provide a reference for relevant departments to formulate policies.Methods:From January 2020 to April 2021, convenience sampling was used to select 226 pregnant women who gave birth in Quzhou Hospital of Traditional Chinese Medicine as the research object. The self-designed Behavior Preference of Pregnant Women to Obtain Newborn Health Information Questionnaire was used to investigate pregnant women through the form of online return visits. A total of 226 questionnaires were issued, and 215 valid questionnaires were returned with the valid response rate of 95.13%.Results:Among 215 pregnant women, they thought it was difficult to obtain information on the prevention and treatment of common diseases (such as diaper rash, impetigo) , distinguishing and nursing of physiological phenomena (such as jaundice, galactorrhea) , form and content of early education, mental behavior building and premature infant health monitoring. These 215 pregnant women preferred to obtain newborn health information from the WeChat public platform/ application (APP) , brochures/billboards, online teaching and expert consultation.Conclusions:Pregnant women have diverse needs for newborn health information, and they prefer many ways to obtain it. In clinical practice, we should broaden the ways of obtaining specialized information to provide pregnant women with scientific and accurate newborn health information.

Objective: To investigate the prevalence and characteristics of pathogenic variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome (aHUS). Method: Eleven Han Chinese children with aHUS, including 9 boys and 2 girls aged between 1 year and 4 months and 13 years, were investigated in Department of Pediatrics, Fuzhou General Hospital, from November 1998 to February 2014. Analysis of variants of all the exons of 10 complement genes (CFH, MCP, CFI, C3, CFB, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5), including 25 bases from 3′ end and 25 bases from 5' end, was performed in the 11 cases by targeted sequence capture and next generation sequencing. Significant variants detected by next generation sequencing were confirmed by Sanger sequencing. To understand pathogenicity of variants found in the captured genes, we investigated genetic conservation by multiple protein sequence alignment among different species, and analyzed whether the variants were located in protein domains or not, and investigated functional significance by functional computational prediction methods. Result: Twenty-seven percent of Han Chinese children with aHUS carried pathogenic variants in the 10 complement genes. Pathogenic variant CFB 221G>A (R74H) was detected in Patient 3 and Patient 9, which was not found in parents of Patient 3′ , and was found in healthy father of patient 9. Pathogenic variant CFHR5 242C>T (P81L) was found in Patient 2, and was found in healthy father of patient 2. However, no pathogenic variants in genes CFH, MCP, CFI, C3, CFHR1, CFHR2, CFHR3 and CFHR4 were identified. Conclusion Pathogenic variants in the 10 complement genes were identified in 3/11 of Han Chinese children with aHUS in our study and CFB was the most frequently mutated gene.