Genetic analysis of a case of mild epilepsy due to variant of SCN9A gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of a patient with epilepsy and provide genetic counseling.@*METHODS@#A patient who had visited the Center for Reproductive Medicine of Shandong University on November 11, 2020 was selected as the study subject, and her clinic information was collected. Candidate variant was identified through whole exome sequencing (WES), and Sanger sequencing was used for validation. Possible transcriptional changes caused by the variant was detected by reverse transcription-PCR and Sanger sequencing.@*RESULTS@#The patient was a 35-year-old female with no fever at the onset, loss of consciousness and abnormal firing in the temporal lobe, manifesting predominantly as convulsions and fainting. WES revealed that she had harbored a heterozygous c.2841+5G>A variant of the SCN9A gene, which was verified by Sanger sequencing. cDNA sequencing confirmed that 154 bases were inserted between exons 16 and 17 of the SCN9A gene, which probably produced a truncated protein and affected the normal function of the SCN9A protein. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.2841+5G>A variant was classified as likely pathogenic (PVS1_Strong+PM2_Supporting).@*CONCLUSION@#The c.2841+5G>A variant of the SCN9A gene probably underlay the epilepsy in this patient. Above finding has enriched the variant spectrum of the SCN9A gene and provided a basis for the prenatal diagnosis and preimplantation genetic testing for this patient.

Influence of mediating/moderating effects of health skills on the relation between knowledge and behaviors in health, among college students / 中华流行病学杂志

Objective To study the influence of mediating/moderating effects of health skills on the relations between health knowledge and health behaviors in college students.Methods Stratified cluster random sampling was used among 2 181 students,selected in several colleges in Changsha,Hunan province.EpiData 3.0 was adopted to establish the database.Correlation and regression analyses were performed by SPSS 17.0.Results Positive correlations were seen on:1)Knowledge and skills on health (r=0.592,P＜0.01),2)Knowledge and behaviors on health (r=0.647,P＜0.01),3)Health skills and health behaviors (r=0.629,P＜0.01).The mediating effect of health skills on the relations between health knowledge and health behaviors was significant (34.55％).The interaction effect of "health skill × (times) related knowledge" was significant (β =-0.093,t =-5.212,P=0.000).New variables that were produced by the interaction also reached significant level (△R2=0.006,P=0.000),resulted in increasing the explanation function to health behaviors by 0.6％.Conclusion Health skills could partially mediate the effects and moderate the relationship between health knowledge and health behaviors among college students.

The cost-effectiveness of early rehabilitation of burns patients / 中华物理医学与康复杂志

Objective To compare the cost-effectiveness of intervention protocols with or without rehabilitation approaches for burn patients.To explore the pros and cons of the two treatment programs,especially in terms of efficacy.Methods Data on 164 burn patients hospitalized in four hospitals in Hunan Province were collected and compared in terms of the therapeutic interventions employed,the direct medical costs and the effects obtained at the end of the first two months of hospitalization.The patients were divided into an early rehabilitation therapy group and a control group,based on the interventions they received.Results The average total direct medical cost of the early rehabilitation group was significantly lower than that of the control group [((￥)59 380.80 ±196.87) versus ((￥)67 471.62 ±217.23)].The average Vancouver scar scale (VSS) results in the early rehabilitation group were significantly better than those of the controls,but their Zung's Self-rating Anxiety Scale and Barthel index scores were not.The average cost-effectiveness ratio (C/E) of the early rehabilitation group as judged by these scores was lower than that of the control group.Conclusion Early rehabilitation can improve the therapy of burns patients and reduce subsequent expenditures.It is a cost-effective approach to treating burns patients.

Modified Delphi method in the constitution of school sanitation standard / 中南大学学报(医学版)

OBJECTIVE@#To constitute school sanitation standard using modified Delphi method, and to explore the feasibility and the predominance of Delphi method in the constitution of school sanitation standard.@*METHODS@#Two rounds of expert consultations were adopted in this study. The data were analyzed with SPSS15.0 to screen indices of school sanitation standard.@*RESULTS@#Thirty-two experts accomplished the 2 rounds of consultations. The average length of expert service was (24.69 ±8.53) years. The authority coefficient was 0.729 ±0.172. The expert positive coefficient was 94.12% (32/34) in the first round and 100% (32/32) in the second round. The harmonious coefficients of importance, feasibility and rationality in the second round were 0.493 (P<0.05), 0.527 (P<0.01), and 0.535 (P<0.01), respectively, suggesting unanimous expert opinions. According to the second round of consultation, 38 indices were included in the framework.@*CONCLUSION@#Theoretical analysis, literature review, investigation and so on are generally used in health standard constitution currently. Delphi method is a rapid, effective and feasible method in this field.

Study on Exposure to Violence and Behavior Problems among 3620 Rural Middle School Students / 中国临床心理学杂志

Objective;To explore the relationship between exposure to violence and behavior problem among rural middle school students.Methods;A cross-section study was conducted in 3620 middle school students randomly selected from rural area.A questionnaire adapted from WHO Health and Life Experience investigation and Achenbach Children Behavior Checklist(CBCL) were used to measure the exposure to violence and behavior problems respectively.Results;Of the 3620 respondents,the prevalence rate of exposure to violence in past year was 33.8%(1225/3620).The prevalence rate of behavior problems averaged 14.3%(519/3620),and students victimized reported significantly more behavior problems than those no-victimized(22.4% vs 10.9%,P