Background: Chronic Rhinosinusitis (CRS) is a common disease in children. In recent years, a new airway epithelial ionocyte has been discovered and is closely related to the expression of cystic fibrosis transmembrane conductance regulator (CFTR), which provides new ideas for the study of the mechanism of CRS. However, the carrying status of the CFTR mutant gene in the Chinese population is not clear. Objective: To study the frequency and mutations of CFTR and FOXI1 (ForkheadBoxI1) in Chinese children with CRS, and to analyze whether they are predisposed to CRS. Methods: A controlled case study was conducted from 2020 to 2021. The CFTR and FOXI1 genomes of 46 children with CRS and 23 children with no history of CRS from the Chinese mainland area were sequenced, and the relationship between mutation rate and the disease were analyzed. Results: 13 CFTR gene mutation sites’ carrying rate in the CRS group was higher than the control group, and 2 of them was significantly higher than that in the East Asian population database. The children who had a history of recurrent upper respiratory tract infection carried CFTR gene mutations associated with the pathogenesis. There was no difference in the carrying of FOXI1 mutation between the two groups. Conclusion: The incidence of CF mutation is higher in Chinese children with CRS who have no history of Cystic Fibrosis (CF). c.650A> G (p.E217G) and c.1950C> A (P. F 650 L) and may play a role in the development of CRS conditions in children in China.

Abstract Objective: To compare the comprehensive developments between children with large vestibular aqueduct syndrome (LVAS) and children without LVAS and investigate the risk factors for developments of LVAS children. Design: A retrospective propensity score matching analysis. Setting: Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing, China. Method: 70 children with LVAS (41 boys, median of 28.50 months, range 6-72 months, hearing threshold: 82.54±12.58 dB nHL) and 70 gender-, age-, and auditory- matched overall children were recruited as LVAS and non-LVAS group, respectively. The developments of children were assessed by Gesell development schedules. Then the overall development and sub-development results were compared between the two groups. Regression analyses were used to assess the association between potential risk factors and developments of LVAS subjects. Results: Compared with normal developmental metrics, LVAS children and non-LVAS children both had developmental delay (both P<.001), which occurred not only in verbal but also in non-verbal aspects (all P<.05) except gross motor in non-LVAS subjects. Whereas, the deaf children of two groups had the similar performance including all sub-developments (all P>.05). For the developments of LVAS children, the age of intervention was risk factor (B<0, P<.05) and the developments of children older than 12 months was worse than those of children younger than 12 months (P<.05). Conclusion: Children with LVAS had the equal developmental level in comparison with children with same hearing impairments. Age of diagnosis was the risk factor for developments of LVAS children and the obvious delay of developments stared from 12 months.