1.Analysis of non-targeted variants by invasive prenatal diagnosis for pregnant women undergoing preimplantation genetic testing
Si LI ; Ziyi XIAO ; Chenyu GOU ; Xiaolan LI ; Yijuan HUANG ; Yuanqiu CHEN ; Shujing HE ; Zhiqiang ZHANG ; Zi REN ; Song GUO ; Weiying JIANG ; Yu GAO
Chinese Journal of Medical Genetics 2024;41(11):1283-1289
		                        		
		                        			
		                        			Objective:To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism.Methods:Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up. This study has been approved by the Medical Ethics Committee of the the Sixth Affiliated Hospital of Sun Yat-sen University (No. 2022SLYEC-491).Results:A total of 172 couples were included in this study, and 26 non-targeted variants were discovered upon prenatal diagnosis, including 10 cases (38.5%) by chromosomal karyotyping, 15 (57.7%) by chromosomal microarray analysis (CMA), and 1 (3.8%) by whole exome sequencing. The 10 karyotypic anomalies had included 6 chromosomal polymorphisms, 2 chromosomal mosaicisms, 1 paternally derived translocation, and 1 missed maternal chromosomal inversion. CMA has identified 15 copy number variations (CNVs), which included 11 microdeletions and microduplications, 3 loss of heterozygosity, and 1 low-level mosaicism of paternal uniparental disomy. One CNV was classified as pathogenic, and another one was likely pathogenic, whilst the remaining 13 were classified as variants of uncertain significance. Therefore, 8.7% of CNVs was detected by invasive prenatal diagnosis after PGT. 92.3% (24/26) of the non-targeted variants have been due to technological limitations of next-generation sequencing (NGS).Conclusion:Invasive prenatal diagnosis after PGT can detect non-targeted variants, which may further reduce the incidence of birth defects.
		                        		
		                        		
		                        		
		                        	
2.Surveillance and response to measles outbreaks in China, 2016-2020
Qi LI ; Yuanqiu LI ; Chao MA ; Lixin HAO ; Fuzhen WANG ; Qiru SU ; Zhijie AN ; Zundong YIN
Chinese Journal of Epidemiology 2021;42(10):1817-1822
		                        		
		                        			
		                        			Objective:To understand the epidemiological characteristics of measles outbreaks in China from 2016 to 2020 and related outbreak investigations and response performances.Methods:The information about the incidence of measles outbreaks, the investigation and response of measles outbreaks in 31 provinces from 2016 to 2020 were collected from Measles Surveillance System, and the incidence of suspected measles outbreaks detected through sporadic case finding during the same period according to the measles outbreak definition was analyzed.Results:From 2016 to 2020, a total of 344 measles outbreaks were reported nationwide, involving 1 886 measles cases. The median of intervals between the first case onsets and reported outbreaks ranged from 4 to 10 days, the median of the numbers of involved cases ranged from 2 to 3, and the median of the duration of the epidemic ranged from 8 to 13 days, and some outbreaks had long durations of 65,44,28,63 and 13 days. The top three provinces with high number of reported outbreaks were Gansu, Beijing and Shandong. Among the reported outbreaks, 115 occurred in communities/villages, accounting for the highest proportion. The genotype identification results indicated that all the outbreaks in 2016 were caused by measles virus H1, and the proportion of the outbreaks caused by measles virus H1 decreased year by year since then, which was 88.57% (31/35) in 2017, 85.00% (17/20) in 2018 and 15.79% (3/19) in 2019 respectively. There was no outbreak caused by measles H1 reported in 2020, the 4 isolates all belonged to genotype D8. Active case findings were conducted in local medical institutions for 313 outbreaks, and measles-containing vaccine coverage surveys were conducted for 266 outbreaks. From 2016 to 2020, a total of 919 suspected measles outbreaks were detected nationwide, involving 4 212 measles cases. The top three provinces with suspected measles outbreaks were Xinjiang, Gansu and Sichuan. The suspected measles outbreaks also mainly occurred in communities/villages (493).Conclusions:The number, scale and duration of measles outbreaks were gradually decreasing, the measles outbreaks at the community level can not be ignored, and the local H1 genotypes tend to be gradually replaced by other genotypes. Improving the sensitivity of outbreak surveillance, promoting vaccination, expanding the vaccine coverage, timely and effective response to the outbreaks are the focus of measles elimination in China in the future.
		                        		
		                        		
		                        		
		                        	
3. Early containment strategies and core measures for prevention and control of novel coronavirus pneumonia in China
Wei CHEN ; Qing WANG ; Yuanqiu LI ; Hailiang YU ; Yinyin XIA ; Muli ZHANG ; Ying QIN ; Ting ZHANG ; Zhibin PENG ; Ruochen ZHANG ; Xiaokun YANG ; Wenwu YIN ; Zhijie AN ; Dan WU ; Zundong YIN ; Shu LI ; Qiulan CHEN ; Luzhao FENG ; Zhongjie LI ; Zijian FENG
Chinese Journal of Preventive Medicine 2020;54(3):1-6
		                        		
		                        			
		                        			 In December 2019, novel coronavirus pneumonia epidemic occurred in Wuhan, Hubei Province, and spread rapidly across the country. In the early stages of the epidemic, China adopted the containment strategy and implemented a series of core measures around this strategic point, including social mobilization, strengthening case isolation and close contacts tracking management, blocking epidemic areas and traffic control to reduce personnel movements and increase social distance, environmental measures and personal protection, with a view to controlling the epidemic as soon as possible in limited areas such as Wuhan. This article summarizes the background, key points and core measures in the country and provinces. It sent prospects for future prevention and control strategies. 
		                        		
		                        		
		                        		
		                        	
4.Quantitative analysis of national hygienic city policies in China from the perspective of policy tools
Wenjing ZHENG ; Hongyan YAO ; Jianjun LIU ; Shicheng YU ; Yuanqiu LI
Chinese Journal of Preventive Medicine 2020;54(9):988-992
		                        		
		                        			
		                        			Objective:To give some suggestions on the policy optimization of the establishment of National Hygienic City from the perspective of policy system.Methods:Policy documents were searched in WanFang Database and websites of ministries and commissions directly affiliated to the State Council with the key words of hygienic city, and analyzed by using the content analysis and quantitative analysis, based on the theory and perspective of policy tools and the two-dimensional analysis framework.Results:Among the 161 policy documents, supply-based, environment-based, and demand-based policy tools accounted for 6.83% (11/161), 83.85% (135/161), and 9.32% (15/161) respectively. Policy planning, policy implementation, policy supervision, and policy evaluation tools accounted for 10.56% (17/161), 63.35% (102/161), 21.74% (35/161), and 4.35% (7/161) respectively.Conclusion:The government should reduce its dependence on environmental policy tools, especially strategic measures, and attach importance to the use of supply-based policy tools and demand-based policy tools. At the same time, it should pay attention to the formulation of more practical policy tools in the process of policy evaluation.
		                        		
		                        		
		                        		
		                        	
5.Quantitative analysis of national hygienic city policies in China from the perspective of policy tools
Wenjing ZHENG ; Hongyan YAO ; Jianjun LIU ; Shicheng YU ; Yuanqiu LI
Chinese Journal of Preventive Medicine 2020;54(9):988-992
		                        		
		                        			
		                        			Objective:To give some suggestions on the policy optimization of the establishment of National Hygienic City from the perspective of policy system.Methods:Policy documents were searched in WanFang Database and websites of ministries and commissions directly affiliated to the State Council with the key words of hygienic city, and analyzed by using the content analysis and quantitative analysis, based on the theory and perspective of policy tools and the two-dimensional analysis framework.Results:Among the 161 policy documents, supply-based, environment-based, and demand-based policy tools accounted for 6.83% (11/161), 83.85% (135/161), and 9.32% (15/161) respectively. Policy planning, policy implementation, policy supervision, and policy evaluation tools accounted for 10.56% (17/161), 63.35% (102/161), 21.74% (35/161), and 4.35% (7/161) respectively.Conclusion:The government should reduce its dependence on environmental policy tools, especially strategic measures, and attach importance to the use of supply-based policy tools and demand-based policy tools. At the same time, it should pay attention to the formulation of more practical policy tools in the process of policy evaluation.
		                        		
		                        		
		                        		
		                        	
6. The caregiver burden and related factors on quality of life among caregivers for patients with lung cancer
Yuanqiu LI ; Manhui ZHANG ; Qiqi WANG ; Jianjun LIU ; Hongyan YAO
Chinese Journal of Oncology 2018;40(6):467-473
		                        		
		                        			 Objective:
		                        			To explore the influence of caregiver burden on quality of life among caregivers for patients with lung cancer in Beijing.
		                        		
		                        			Methods:
		                        			From August to October in 2017, 336 caregivers for patients with primary lung cancer from a large tertiary hospital were recruited to this survey by convenient sampling method. The Caregiver Reaction Assessment (CRA) and the WHO Quality of Life-BREF (WHOQOL-BREF) Instruments were used to evaluate the caregiver burden and quality of life. The demographic characteristics were evaluated using Pearson chi-square or Fisher′s exact tests. In addition, using the 4 dimensions of quality of life scale as the dependent variables while the 5 dimensions of caregiver burden and demographic variables as the explanatory variables, we conducted the multiple linear stepwise regression analysis (the defaults were 0.15 for FORWARD and BACKWARD).
		                        		
		                        			Results:
		                        			The scores of family caregivers′ esteem, impact on schedule, impact on finances, impact on health and lack of family support were 4.30±0.47、3.55±0.74、3.10±0.91、2.60±0.78、2.32±0.73, respectively. Regression results showed that demographic factors, including marriage, occupation and relationship with patients and impact on health, caregivers′ esteem and impact on finances dimensions of caregiver burden were the factors which influenced the quality of life of caregivers.
		                        		
		                        			Conclusions
		                        			The caregiver burden in patients with lung cancer is mainly focused on impact on schedule and finances. Impact on health, finances and caregivers′ esteem (seven items were reverse-scored) are significantly negatively correlated with quality of life of caregivers. 
		                        		
		                        		
		                        		
		                        	
7.Correlation between gonadotropin-releasing hormone and cervical cancer
Fengyan LI ; Zhiyan CHEN ; Xiaocui LI ; Yuanqiu MIAO ; Chunjing LIU
Journal of Clinical Medicine in Practice 2017;21(15):57-60
		                        		
		                        			
		                        			Objective To detect the expression of gonadotropin-releasing hormone (GnRH) in cervical cancer and to explore the correlation.Methods A total of 68 patients with cervical squamous cell carcinoma and 45 patients with chronic cervicitis were selected.Immunohistochemistry and hybridization in situ were used to detect the expression of GnRH in cancer tissue and cervicitis.Protein and nucleic acid level were observed in patients with GnRH.Results In 45 patients with cervicitis, both GnRH and GnRH mRNA expressions were negative in cervical epithelial tissue, while in 68 cases of cervical squamous cell cancer, the positive expression of GnRH in cancer tissues was 82.36%, and positive expression rate of GnRH mRNA was 64.71%.There were significant differences in levels of GnRH and GnRH mRNA between patients with cervicitis and cervical squamous cell carcinoma (P<0.05).The qualitative expression rates of GnRH in different clinical stages of cervical cancer were 55.56% of Ib, 87.10% of IIa and 100% of IIb, and qualitative expression rates of GnRH mRNA in different clinical stages of cervical cancer were 38.89% of Ib, 70.97% of IIa and 84.21% of IIb.There were significant differences in GnRH and GnRH mRNA levels between patients with different clinical stages of cervical cancer (P<0.05).Conclusion There is a high level of gonadotropin-releasing hormone in cervical cancer, which may be involved in the development of cancer cells.
		                        		
		                        		
		                        		
		                        	
8.Correlation between gonadotropin-releasing hormone and cervical cancer
Fengyan LI ; Zhiyan CHEN ; Xiaocui LI ; Yuanqiu MIAO ; Chunjing LIU
Journal of Clinical Medicine in Practice 2017;21(15):57-60
		                        		
		                        			
		                        			Objective To detect the expression of gonadotropin-releasing hormone (GnRH) in cervical cancer and to explore the correlation.Methods A total of 68 patients with cervical squamous cell carcinoma and 45 patients with chronic cervicitis were selected.Immunohistochemistry and hybridization in situ were used to detect the expression of GnRH in cancer tissue and cervicitis.Protein and nucleic acid level were observed in patients with GnRH.Results In 45 patients with cervicitis, both GnRH and GnRH mRNA expressions were negative in cervical epithelial tissue, while in 68 cases of cervical squamous cell cancer, the positive expression of GnRH in cancer tissues was 82.36%, and positive expression rate of GnRH mRNA was 64.71%.There were significant differences in levels of GnRH and GnRH mRNA between patients with cervicitis and cervical squamous cell carcinoma (P<0.05).The qualitative expression rates of GnRH in different clinical stages of cervical cancer were 55.56% of Ib, 87.10% of IIa and 100% of IIb, and qualitative expression rates of GnRH mRNA in different clinical stages of cervical cancer were 38.89% of Ib, 70.97% of IIa and 84.21% of IIb.There were significant differences in GnRH and GnRH mRNA levels between patients with different clinical stages of cervical cancer (P<0.05).Conclusion There is a high level of gonadotropin-releasing hormone in cervical cancer, which may be involved in the development of cancer cells.
		                        		
		                        		
		                        		
		                        	
9.Prediction of kidney cancer incidence in urban China by age-period-cohort Bayesian model
Wanqing CHEN ; Yuanqiu LI ; Rongshou ZHENG
Chinese Journal of Urology 2012;(12):885-890
		                        		
		                        			
		                        			Objective To predict the disease burden of kidney cancer and to provide basic information for etiology and control planning.Methods We retrieved incidence data of kidney cancer from 18 urban cancer registries from National Central Cancer Registry during ten years period from 1998 to 2007.Ageperiod-cohort Bayesian model was applied for modeling to predict kidney cancer incidence in urban China in 2008-2015.Results Between 1998 and 2007,the incidence of kidney cancer in urban registration areas kept increasing dramatically.Incidence for male raised from 3.12/100 000 in 1998 to 5.36/100 000 in 2007 and from 1.66/100 000 to 2.67/100 000 for female.Different models showed that the increase was mainly caused by a cohort effect (P < 0.001).The predicted incidence rate of kidney cancer for the year 2015 is 9.93 per 100 000 in male and 4.54 per 100 000 in female.The number of new cases will rise to 52 259 in 2015,including 36 616 men and 15 643 women.Conclusions The burden of kidney cancer in urban areas would increase due to the effect of age and cohort.Kidney cancer will become one of the main cancers threatening people's health in urban areas in China.Etiology research and planning of prevention and control for kidney cancer should be enhanced.
		                        		
		                        		
		                        		
		                        	
10.Multiple linear stepwise regression of fiver lipid levels: proton MR spectroscopy study in vivo at 3.0 T
Li XU ; Changhong LIANG ; Yuanqiu XIAO ; Zhonglin ZHANG
Chinese Journal of Radiology 2010;44(9):954-957
		                        		
		                        			
		                        			Objective To analyze the correlations between liver lipid level determined by liver 3.0 T 1H-MRS in vivo and influencing factors using multiple linear stepwise regression. Methods The prospective study of liver 1H-MRS was performed with 3.0 T system and eight-channel torso phased-array coils using PRESS sequence. Forty-four volunteers were enrolled in this study. Liver spectra were collected with a TR of 1500 ms ,TE of 30 ms, volume of interest of 2 cm ×2 cm ×2 cm, NSA of 64 times. The acquired raw proton MRS data were processed by using a software program SAGE. For each MRS measurement, using water as the internal reference, the amplitude of the lipid signal was normalized to the sum of the signal from lipid and water to obtain percentage lipid within the liver. The statistical description of height, weight, age and BMI, Line width and water suppression were recorded, and Pearson analysis was applied to test their relationships. Multiple linear stepwise regression was used to set the statistical model for the prediction of Liver lipid content. Results Age (39.1 ± 12. 6) years, body weight (64.4 ± 10. 4) kg,BMI (23.3 ±3.1) kg/m2, linewidth (18.9 ±4.4) and the water suppression (90.7 ±6.5)% had significant correlation with liver lipid content (0.00 to 0.96%, median 0. 02% ), r were 0.11,0. 44,0. 40,0. 52, - 0. 73 respectively(P < 0. 05 ). But only age, BMI, line width, and the water suppression entered into the multiple linear regression equation. Liver lipid content prediction equation was as follows: Y =1.395-(0.021 × water suppression) + (0.022 × BMI) + (0.014 × line width) - ( 0. 064 × age),and the coefficient of determination was 0.613, corrected coefficient of determination was 0.59. Conclusion The regression model fitted well, since the variables of age, BMI, width, and water suppression can explain about 60% of liver lipid content changes.
		                        		
		                        		
		                        		
		                        	
            
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