Epigenetic modification genes are defined as genes whose products modify the epigenome directly through DNA methylation, histone modification or chromatin remodeling.More and more studies have shown that mutations in epigenetic modification genes are an important etiology of rare diseases with abnormal cardiac development.And these diseases usually affect multiple organs including heart due to the change of epigenetic components.Moreover, children′s lives and health are often threatened by a lack of effective drugs and complex cardiovascular malformations.This article reviews advances in molecule genetics of Tatton-Brown-Rahman syndrome, Kabuki syndrome, Rubinstein-Taybi syndrome, CHARGE syndrome and Sifrim-Hitz-Weiss syndrome, and mainly elaborates the mechanism of cardiovascular malformations caused by mutations in corresponding epigenetic modification genes, providing more comprehensive reference for clinical diagnosis and management.

A fast and accurate intelligent identification is the developing trend of electrocardiogram (ECG) research. However, there are few methods by which satisfactory results could be obtained both in speed and in accuracy. A fast identification method of QRS wave was proposed based on moving window operation in this study. An 80 ms wide moving window was employed, in which simple difference and product operations were carried out with simple and less computation, and a very good inhibition of P and T waves and other noises was realized. Then the method was investigated with data from the MIT-BIH arrhythmia database with absence of digital filtering de-noising, and the identification accuracy of QRS complex reached 99.6%. The results showed that a rapid and accurate identification of QRS complex could be realized, which would meet the requirements for studying the real-time ECG monitoring equipment.
Algorithms ; Electrocardiography ; methods ; Humans ; Pattern Recognition, Automated ; Signal Processing, Computer-Assisted

Objective:To explore the associations between perceived built environment attributes and adults’ leisure-time physical activity in four cities of China.Methods:Multistage cluster random sampling method was used to select adults aged 25 to 64 in Hangzhou, Suzhou, Chengdu, and Qingdao. Data were collected from June 2017 to July 2018. The perception of the urban built environment was assessed by the neighborhood environment walkability scale-abbreviated (NEWS-A), and the physical activity was assessed by the International Physical Activity Questionnaire. Generalized linear mixed models were used to explore the relationship between the perceived built environment and leisure-time physical activities.Results:A total of 3 789 participants were included in the analysis. After adjusting for potential confounders, better access to public services ( OR=1.34, 95% CI: 1.02-1.75) and higher aesthetic quality ( OR=1.37, 95% CI: 1.09-1.73) were positively associated with the possibility of engaging in leisure-time physical activity in the past week. Similarly, these two attributes were positively associated with leisure-time walking. Higher scores on the perception of street connectivity were positively associated with leisure-time walking [ exp( β)=1.09, 95% CI: 1.00-1.19]. Higher residential density [ exp( β)=1.000 4, 95% CI:1.000 0-1.000 8], better access to physical activity destinations[ exp( β)=1.09, 95% CI: 1.00-1.19], and better aesthetics [ exp( β)=1.11, 95% CI:1.00-1.22] were associated with higher leisure-time physical activity. Similarly, these three attributes were positively associated with the possibility of meeting the WHO recommendations. Conclusion:Changing some urban built environment attributes may increase leisure-time physical activity.

Objective:To investigate the clinical characteristics, incidence trend, underlying diseases, causative drug and prognosis of drug-induced liver injury (DILI), so as to provide basis for its prevention and treatment.Methods:A retrospective study was conducted on 2 820 DILI cases who were admitted to our hospital from January 2002 to December 2015, and their clinical characteristics, incidence trends, underlying related diseases, causative drug, treatment and outcome were analyzed.Results:Among 2 820 DILI cases, the ratio of male to female was 1:1.44, and the age was (44.00±16.32) years old. According to the clinical classification of DILI, there were 2 353 cases (83.43%) of hepatocyte injury, 353 cases (12.51%) of cholestatic type and 114 cases (4.04%) of mixed type. In the three clinical classification of DILI, there was no statistically significant difference in the ratio of male to female (χ 2 = 3.032, P > 0.05). However, the difference in the ratio of male to female between different age groups was statistically significant (χ 2 = 48.367, P < 0.001). Among the patients with liver disease and acute liver disease admitted to our hospital from January 2002 to December 2015, the proportion of DILI and acute DILI showed an overall upward trend. The main underlying related diseases of 2 820 DILI cases were fever (15.14%), skin diseases (11.84%), cardiovascular and cerebrovascular diseases (11.17%). Chinese herbal patent medicines (37.49%), antibiotics (15.85%), antipyretic-analgesics (14.37%), and so on were the main causative drugs involved, and the prognostic differences among the three clinical classifications of DILI in terms of cure, improvement, ineffectiveness, and death were statistically significant ( H = 61.300, P < 0.001). Conclusion:In recent years, among the patients with liver disease in our hospital, the proportion of DILI has shown an obvious upward trend, involving a variety of underlying diseases and causative drugs, and thus it needs clinical attention.

ObjectiveTo investigate the efficacy and safety of N-acetylcysteine （NAC） in the treatment of severe alcoholic hepatitis （SAH）， and to provide a basis for clinical medication for SAH. MethodsA prospective randomized controlled trial was conducted among 172 SAH patients with a Maddrey discriminant function score of >32 points who were recruited by The Fifth Medical Center of Chinese PLA General Hospital from June 2015 to June 2018， and these patients were divided into NAC group with 84 patients and control group with 86 patients. NAC （8 g/day， 28 days） was assessed in terms of its safety in SAH patients， its impact on 28-day biochemical parameters， and its role in improving 28- and 180-day survival rates. A further analysis was performed to investigate the effect of NAC on the 28- and 180-day survival rates of SAH patients with acute-on-chronic liver failure （ACLF-SAH patients） and those without acute-on-chronic liver failure （non-ACLF-SAH patients）. The independent-samples t test was used for comparison of normally distributed continuous data between two groups， and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups. The Kaplan-Meier method was used to plot survival curves， and the Log-rank test was used for comparison of survival curves. Univariate and multivariate Cox proportional-hazards regression model analyses were used to investigate independent influencing factors. ResultsNo serious adverse events were observed during NAC treatment， suggesting that NAC had a good safety profile. Compared with the control group， NAC did not significantly improve the 28-day biochemical parameters （all P>0.05） and survival rate of SAH patients （P=0.081）， but it could improve the 180-day survival rate of SAH patients （67.4% vs 81.0%， χ²=4.280， P=0.039）. NAC did not improve the 28- and 180-day survival rates of ACLF-SAH patients （both P>0.05）； NAC did not improve the 28-day survival rate of non-ACLF-SAH patients （P>0.05）， but it could improve the 180-day survival rate of these patients （68.4% vs 88.9%， χ²=4.883， P=0.027）. The multivariate Cox regression survival analysis showed that NAC treatment （hazard ratio ［HR］=2.530， 95% confidence interval ［CI］： 1.334‍ ‍— 4.796， P=0.004，）， Maddrey discriminant function score （HR=3.852， 95%CI： 2.032 — 7.304， P<0.001）， and serum sodium level （HR=1.948， 95%CI： 1.079‍ ‍—‍ ‍3.517， P=0.027） were independent influencing factors for 180-day survival rate in SAH patients. ConclusionNAC has a good safety profile in the treatment of SAH and can improve the 180-day survival rate of SAH patients， and in particular， non-ACLF-SAH patients can benefit from NAC treatment in terms of middle- and long-term survival rates.

Objective: To understand the fruit consumption of adults of Qingdao and examine the association between fruit consumption and stroke. Methods: We analyzed baseline data and stroke incidence of the participants who were aged 30-79 years and had been enrolled into the China Kadoorie Biobank (CKB) study from Qingdao city. Cox proportional hazards regression model was conducted to estimate the association of fruit consumption with risk of stroke. Results: A total of 35 509 participants were investgated in the baseline survey. Ratio of male to female was 1∶1.27, and the average age was (50.3±10.2) years. Respondents with higher frequency of fruit consumption were younger, more women, with higher education level and higher income (P<0.05). A total of 1 011 new cases of stroke were observed, with a stroke incidence of 387.63/100 000 person-years. Multivariate Cox regression analysis showed that fruit consumption had a protective effect on stroke incidence. Compared to the respondents who never consumed fruit, respondents who consumed fruit more than 4 days per week had a 44% lower risk of stroke incidence (HR=0.56, 95%CI: 0.50-0.62, P<0.05), and the risk reduced by 46% (HR=0.54, 95%CI: 0.46-0.64, P<0.05) and 42% (HR=0.58, 95%CI: 0.52-0.69, P<0.05) in male and female, respectively. Further adjustment for WC, BMI, SBP and random blood glucose did not change the association. Conclusion Increasing fruit consumption can effectively decrease the risk of stroke. People should increase fruit consumption advisably to set up reasonable and healthy dietary habits.

Objective: To evaluate the correlation between alcohol consumption and obesity in adults in China. Methods: The information about alcohol consumption were collected at the baseline survey of the China Kadoorie Biobank. The general obesity and central obesity were defined by BMI and waist circumference (WC) respectively. Logistic regression model was employed to examine the relationship of drinking behavior with general obesity and central obesity. Results: A total of 249 873 adults were included. A J-shaped relationship was observed between alcohol consumption and obesity measurement index (BMI and WC) in men. Compared with non-drinkers, the proportion of general obesity and central obesity were lower in light drinkers (men: OR=0.65, 95%CI: 0.59-0.71 and OR=0.93, 95%CI: 0.88-0.98; women: OR=0.77, 95%CI: 0.65-0.91 and OR=0.89, 95%CI: 0.80-0.99). In men, the proportion of general obesity and central obesity was highest in heavy drinkers (OR=1.21, 95%CI: 1.12-1.32; OR=1.33, 95%CI: 1.27-1.40). BMI and WC were higher in those with a drinking frequency of 3-5 d/week, with largest of proportion of central obesity (men: OR=1.23, 95%CI: 1.16-1.31; women: OR=1.13, 95%CI: 0.99-1.28). The risk for central obesity in men who began drinking every week before 20 years old was 1.24 times higher than non-drinkers (95%CI: 1.16-1.33). Those who drank beer had lower proportion of general obesity (men: OR=0.74, 95%CI: 0.67-0.82; women: OR=0.54, 95%CI: 0.43-0.68). Conclusion The proportion of obesity was lower in light drinkers but higher in heavy drinkers; and the earlier drinking started, the higher the risk for obesity was.