Analysis of mutations in ARVC desmosomal protein gene in relatives of Yunnan unexplained sudden death cases in Nanjian County, Dali Prefecture / 中华地方病学杂志

Objective:To analyze the mutations in desmosomal protein genes of arrhythmogenic right ventricular cardiomyopathy (ARVC) in relatives of Yunnan unexplained sudden death (YUSD) cases in Nanjian County, Dali Prefecture, Yunnan Province, and provide a basis for etiological hypothesis and control measures.Methods:The blood samples of YUSD case relatives ( n = 7) and control villagers ( n = 7) were collected, and basic situation investigation and electrocardiography (ECG) examination were performed at the same time. Blood DNA was extracted as a template for PCR amplification, and Sanger method was used to perform plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmocollin 2 (DSC2), desmoplakin (DSP), and junction plakoglobin (JUP) five ARVC desmosomal protein genes sequencing of a total of 97 exons, and comprehensive analysis of gene mutations was carried out. Results:Five of YUSD case relatives carried genetic mutation sites, including DSP gene heterozygous synonymous mutations about exon 20 c.2862 C>T (p.Cys954Cys) and exon 24F c.7122 C>T (p.Thr2374Thr), DSC2 gene heterozygous missense mutation about exon 15 c.2326 A>G (p.Ile776Val), and all the five people were single heterozygous mutation carriers. Among them, two case relatives of the father-son carried the same site mutation of the DSC2 gene; the abnormal ECGs of three YUSD case relatives were ST-T change or clockwise rotation. However, the mutation sites of PKP2, DSG2, DSC2, DSP and JUP genes in control villagers were not detected.Conclusions:YUSD case relatives in Nanjian County carry ARVC desmosomal protein genes DSP and DSC2 mutations. Pathogenic mutation of DSC2 gene c.2326 A>G (p.Ile776Val) is may related to the incidence of some YUSD cases.

Effect of hereditary and environmental factors on the executive function of twin children / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the influence of genetic and environmental factors on the executive function of twin children.</p><p><b>METHODS</b>The executive function of 122 twin pairs from Chongqing (aged from 6 to 18 years) were investigated with the perseverative errors of the Wisconsin Card Sorting Test. Structural equation modeling was performed to evaluate the effects of the additive genetic factors (A), dominance genetic latent factors (D) and individual specific environmental factors (E) on the executive functions.</p><p><b>RESULTS</b>The effects of D and E on perseverative errors were 0. 77 (95%CI: 0.65-0.84) and 0.23 (95%CI: 0.16-0.35), respectively. The probability of perseverative errors showed a significant negative correlation with family functioning and with the total GHQ-12 scores of the fathers and mothers (r:-0.335, -0.335, and -0.219, respectively, P<0.01). Perseverative errors were not significantly correlated with the parenting styles and stress life events.</p><p><b>CONCLUSION</b>Perseverative errors are influenced by a common dominance genetic latent factor and individual specific environmental factors, but the role of environmental factors such as family functioning and parental health can not be ignored.</p>

A twin study of genetic effects on intelligence development of children and adolescents / 重庆医学

Objective Using twins methods to explore the influence of genetic and environmental factor on Intelligence develop-ment of children and adolescent twins .Methods It was 190 pair of twins aged 6 to 18 who lived in Chongqing were recruited ,DNA were extracted from buccal mucosa and venous blood samples to identify zygosity .The intelligence was investigated by using the Wechsler Intelligence Scale for Children(C-WISC) ,the intrapair correlation coefficients of twins were compared and calculate the genetic degrees .Results The total IQ of children aged 6 to 18 heritability were 0 .63 ,Verbal IQ were 0 .44 ,Performance IQ were 0 .57 .The total IQ heritability of children aged 10 to 14 and 15 to 18 years(0 .78 ,0 .79) were higher than that of those aged from 6 to 9 years(0 .018) .Conclusion This study suggested the intelligence of children aged 6 to 18 affected by genetic and environment , and the older ,the more influence of genetic on intelligence development .

Genetic and environmental influences on emotional and behavioral problems in children and adolescents / 中国神经精神疾病杂志

Objective To explore the influence of genetic and environmental factors on emotional and behavioral problems in children and adolescents using twins quantitative method. Methods One hundred fifty-six twins pairs, aged from 6 to 18, were included in the present study. The parental version of the strengths and difficulties questionnaire (SDQ)was used to evaluate their emotional and behavioral problems. The DNA test of twin zygosity was conducted using DNA extracted from buccal mucosa or venous blood samples. The influence of genetic and environmental factors on emo-tional and behavioral problems was analyzed using structural equation modeling(SEM). Results Shared environment and special environment had impact on emotional symptoms and their contribution to the total variance of emotional symp- tom was 0.42 and 0.58, respectively. Prosocial behavior was mainly affected by shared environment and the contribution of shared environment to the total variance of prosocial behavior was 0.89. Genetic factors had greater influence on hyperac-tivity/attention deficit and the contribution of genetic factors to the total variance was 0.62. Shared environment had more influence on conduct disorder and the contribution of shared environment to total variance was 0.56. Heredity, shared envi-ronment and special environment had impact on peer problems and their contribution to the total variance was 0.24, 0.33 and 0.43, respectively. Conclusion In child and adolescent period, emotional symptoms are only affected by environ-ment, while behavior problems are affected by the combination of heredity and environment. Different behavior problems are affected by different genetic and environmental factors.

Investigation in the work content of community nurses in general practitioners team model in Chongqing / 中国实用护理杂志

Objective To understand the work content of community nurses in general practitioners team model in Chongqing.Methods A questionnaire was carried out among 210 community nurses from 12 communityhealth service centers in Chongqing city.Results The work content of community nurses most often did in general practitioners team model were health management,health care of elderly people,health education,chronic disease management and basic medical service.However,the work content of women's health care and inquiry of death cause were relatively done less.Conclusions There are both basic medical service and public health service in the work content of community nurses in Chongqing.The “Six in One” function of community nursing is gradually improved.

Investigation and analysis of the comprehensive quality status of community nurses in Chongqing / 中国实用护理杂志

Objective To understand the comprehensive quality status of community nurses in Chongqing and seek the development strategy of community nursing education. Methods Related infor-marion was collected through questionnaire investigation in 104 community nurses from 9 community health service center and 18 community health station. Results The mastering degree of various community nursing knowledge was different among nurses with different education background and different profession-al titles (P ＜ 0.05).More than 80% nurses considered it necessary to cultivate comprehensive technique of special courses ,the ability to cope with community emergencies and self-development in their work.78.9% nurses thought they should reinforce the ability in predicting potential problems in community and solving problems by theirselves, Conclusions We need to strengthen the work belief of community nurses,perfect training conditions,optimize course contents and cultivate nurses' comprehensive ability purposely.