ABSTRACT
Objective@# To explore the pathogenic genes in a Chinese family affected by nonsyndromic tooth agenesis so as to study the pathogenesis of oligodontia.@*Methods @# Hospital ethical approval and informed consent of the patients and family members were obtained. Clinical data of the proband and close family members were collected, peripheral venous blood was collected, and DNA was extracted. Gene sequencing was performed through whole-exome sequencing, and then the screened pathogenic genes were verified by Sanger sequencing. The three-dimensional structure of the mutant proteins was analyzed and compared with the wild-type using bioinformatics tools.@*Results@#The two patients with congenital majority tooth loss in this family were cousins, and there were no other patients with congenital majority tooth loss in the family. Besides congenital multiple tooth loss, the two patients had no obvious hair abnormalities, finger/toe abnormalities, sweating abnormalities or other abnormal manifestations of ectodermal tissue. We found a mutant gene that in this family by carrying out gene sequencing of the patients and their close family members. A novel EDA (ectodysplasin A) missense mutation c.983C>T (p. Pro328Leu) was identified, which changed the encoded amino acid from proline (Pro) to leucine (Leu). Analysis of the mutation site showed that the site was highly conserved, and three-dimensional structure modeling also found that it changed the structure of EDA. @* Conclusion@#A novel EDA missense variant (c.983C>T, p.Pro328Leu) was first identified in a Chinese family with nonsyndromic tooth agenesis, extending the mutation spectrum of the EDA gene.
ABSTRACT
Objective@#To explore the impact of tennis on the visual health of primary school students, so as to provide a basis for myopia prevention.@*Methods@#In September 2021, a total of 202 third grade students from Fengtai Affiliated School of Renmin University of China in Beijing were recruited, with 75 students in the intervention group and 127 students in the control group. In addition to attending the same cultural and physical education courses, the intervention group added a tennis course twice a week and tested their vision before the intervention (September 2021), middle (January 2022) and later (June 2022). Data collected at different time points in the two groups were analyzed by using independent sample t-test for comparison between blocks, and single factor repeated measurement ANOVA for analysis of time point factors.@*Results@#After intervention, among male subjects, the average visual acuity of the left and right eyes in the intervention group were higher than that in the control group at the third visual acuity test (left eye:5.00±0.13,4.88±0.29, right eye:5.00±0.12,4.88±0.30, t =2.33, 2.36, P <0.05). Among female subjects, the second visual acuity test (left eye:5.03±0.17, 4.86±0.21, right eye:5.03±0.15, 4.85±0.23) and the third visual acuity test (left eye:4.97±0.13, 4.81±0.23, right eye:4.97±0.14, 4.82±0.24) showed that the average visual acuity of the left and right eyes in the intervention group were higher than that in the control group among females (second: t =3.84, 3.87, third: t =3.70, 3.46, P < 0.01 ). After intervention, the detection rate of visual impairment in both males and females control groups increased at three tests, with statistically significant differences ( χ 2=17.86, 34.77, P <0.01). In the first visual acuity test, there was no statistically significant difference in the detection rate of visual impairment between the control group and the intervention group for both males and females ( χ 2=0.01, 0.10, P >0.05). The third visual impairment detection rate of males in the intervention group was lower than that of the control group (20.00% vs 45.45%), while the second and third visual impairment detection rates of female students in the intervention group were lower than those of the control group (22.86% vs 54.00%; 28.57% vs 70.00%) ( χ 2=7.34, 8.24, 14.18, P < 0.01).@*Conclusions@#Tennis can alleviate and prevent the occurrence of myopia in primary school students to a certain extent. Sports such as tennis should be actively promoted to protect the visual health of primary school students.
ABSTRACT
Objective@#To analyze anxiety and its influencing factors of medical college students during the epidemic of COVID-19, so as to provide theoretical basis for targeted mental health promotion.@*Methods@#Participants were selected through convenient sampling in 2 medical colleges, and general situation questionnaires, anxiety self rating scale(SAS), were csuected through questionnaire stars among to 6 276 medical college students anonymously through online platforms such as WeChat and QQ during the COVID-19 epidemic.@*Results@#SAS scores of medical students was(38.52±7.76), anxiety detection rate was 8.9%. Anxiety detection rate varied significantly by gender, the frequency of protection alerting by the counselor, college level, residence, self reported health status, confirmed cases in the community, personal attention, disinfection, perceived risk of infection,as well as panic in the outbreak of COVID-19 (all P <0.05). Multivariate Logistic analysis showed that undergraduate( OR = 1.25 ), high perceived risk of infection( OR =1.71); extreme panic ( OR =2.75) were associated with high detection rate of anxiety. Female students( OR =0.62), rural residents( OR =0.80), moderate health status( OR =0.06), in good health( OR =0.11), in excellent health( OR =0.30); know or don t know there were COVID-19 patients in their residential areas( OR =0.67), close attention to COVID-19 1-2 times/d( OR = 0.47 ), or frequently( OR =0.38); moderate inevitable disinfection( OR =0.53), few inevitable disinfection ( OR =0.32) were associated with low detection rate of anxiety.@*Conclusion@#During the epidemic of COVID-19, anxiety among the medical college students was high, which varies by gender and college level. Psychological adjustment, appropriate attention and positive attitude towards COVID-19 should be promoted among medical college students. School counsellors should pay more attention and care to students while providing COVID-19 information through various ways.