Objective To investigated the association between bone morphogenetic proteins-2 (BMP-2)gene mutation and coal-burning skeletal fluorosis of children in Zhijin Guizhou.Methods In 2010,121 cases of children with skeletal fluorosis were diagnosed based on the standard X-ray Diagnosis of Skeletal Fluorosis (WS192-1999) in coal-burning skeletal fluorosis areas in Zhijin Guizhou,and 50 cases of them were selected as skeletal fluorosis group.Thirty healthy children free of skeletal fluorosis,rickets and other bone related diseases excluded by X-ray were selected as a control group in the same area.Using polymcrase chain reaction combined with DNA sequencing technology,all three exons of BMP-2 gene were conducted sequence screening in skeletal fluorosis and the control groups to detect gene mutations.Results ①The T insertion mutation on exon 1 between 401-402 bp:the T insertion mutantion genotype frequencies of skeletal fluorosis group and the control group were 27.7％ (13/47)and 7.1％ (2/28),and the difference was statistically significant (x2 =4.600,P ＜ 0.05),adjusted OR value of 4.62(1.94-10.90).②)The 894 bp T→G mutation on exon 2:the TG genotype frequencies of skeletal fluorosis group and the control group were 14.0％ (7/50) and 16.7％(5/30),and the difference were not statistically significant (x2=0.103,P＞ 0.05).③The 1 046 bp A→G mutation on exon 2:the AA,AG,GG genotype frequencies of skeletal fluorosis group and the control group was 30.0％ (15/50),24.0％ (12/50),46.0％ (23/50) and 50.0％ (15/30),20.0％(6/30),30.0％ (9/30),and the differences were not statistically significant (x2 =3.099,P ＞ 0.05).Conclusion Exon 1at 401-402 bp,T insertion mutation and skeletal fluorosis are closely related.The relationship between A→Gmutation in exon 2 at 1 046 bp and skeletal fluorosis is not significant.

【Objective】 The purpose of this study was to investigate the prevalence status of neonatal congenital heart disease (CHD) in Ningbo City, Zhejiang Province from 2017 to 2021, and to analyze the influencing factors, so as to provide reference for preventing the risk of CHD and reduce the prevalence of CHD. 【Methods】 Using cross-sectional survey method, the neonatal data from March 2017 to December 2021 were captured from Zhenjiang Neonatal Disease Screening Center, and were analyzed by linear trend chi-square test; binary Logistic regression was used to analyze the influencing factors of CHD. 【Results】 A total of 13 156 newborns screened positive for CHD in Ningbo, Zhejiang Province, with CHD confirmed in 6 300 cases. Among these, 3 066 cases were boys (48.7%) and 3 234 cases were girls (51.3%). The prevalence rates of neonatal CHD in Ningbo city for the years 2017, 2018, 2019, 2020, and 2021 were 2.07%, 1.10%, 2.00%, 2.04% and 1.08%, respectively, with an overall prevalence from 2017 to 2021 of 1.69%. The chi-square test for the linear trend indicated a decreasing prevalence of neonatal CHD over time(χ²=178.518,P<0.001). Multivariate analysis showed that maternal age [36 to 45 years(OR=1.24), >45 years(OR=1.66)], male infants (OR=1.26), premature birth [<32 weeks (OR=1.13), 32 - 36 weeks(OR=1.54)], and being a second birth (OR=2.56) were independent risk factors for the development of CHD (P<0.05). 【Conclusions】 The prevalence of CHD in Ningbo, Zhejiang Province is higher than that of CHD in China and other cities of Zhejiang Province. Although the prevalence showed a decreasing trend over time, targeted prevention and control measures need to be implemented to reduce the prevalence of CHD.