1.Clinical significance of trisomy 7 signaled by non-invasive prenatal testing and a literature review
Xinxin TANG ; Ting YIN ; Min CHEN ; Zhiwei WANG ; Yue ZHANG ; Fang ZHANG ; Yunqiu DU ; Yuhua SUN ; Leilei WANG
Chinese Journal of Medical Genetics 2025;42(1):12-17
Objective:To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT).Methods:Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database. Relevant information such as the incidence of trisomy 7 by NIPT, positive predictive value (PPV), and pregnancy outcomes were collected. This study has been approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No. JS2022010).Results:A total of 51 women with a high risk for trisomy 7 by NIPT were identified. Thirty-two of them had chosen chromosomal microarray analysis (CMA) of amniotic fluid cells, and 1 case of mosaic trisomy 7 was detected, which had yielded a PPV of 3.13%. Four women had opted termination of pregnancy, 1 had miscarriage, 4 had pre-term and/or low weight birth, whilst the remaining 42(82.4%) had full-term delivery. In total 19 literature were retrieved, which had involved 278 cases of trisomy 7 signaled by NIPT, among which 5 fetuses with mosaic trisomy 7 (3.14%) were confirmed. Among the 211 women with follow-up outcomes, 2 (0.95%) had intrauterine growth restriction, 3 (1.42%) had abnormal fetal structure detected by ultrasound, 2 (0.95%) had miscarriage, 9 (4.27%) underwent pregnancy termination, 28 (13.27%) had preterm and/or low weight birth, whilst 167 (79.14%) had normal delivery. In 18 cases, chromosomal analysis of placental tissue was carried out, and 17 were confirmed to have mosaicism trisomy 7.Conclusion:The PPV for trisomy 7 signaled by NIPT is extremely low. Although most of such women had a full term delivery, adverse pregnancy outcomes may still occur in a minority of cases. Clinicians should provide adequate genetic counseling for such women and recommend appropriate prenatal diagnosis strategies and optimal perinatal management plans.
2.Clinical significance of trisomy 7 signaled by non-invasive prenatal testing and a literature review.
Xinxin TANG ; Ting YIN ; Min CHEN ; Zhiwei WANG ; Yue ZHANG ; Fang ZHANG ; Yunqiu DU ; Yuhua SUN ; Leilei WANG
Chinese Journal of Medical Genetics 2025;42(1):12-17
OBJECTIVE:
To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT).
METHODS:
Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database. Relevant information such as the incidence of trisomy 7 by NIPT, positive predictive value (PPV), and pregnancy outcomes were collected. This study has been approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No. JS2022010).
RESULTS:
A total of 51 women with a high risk for trisomy 7 by NIPT were identified. Thirty-two of them had chosen chromosomal microarray analysis (CMA) of amniotic fluid cells, and 1 case of mosaic trisomy 7 was detected, which had yielded a PPV of 3.13%. Four women had opted termination of pregnancy, 1 had miscarriage, 4 had pre-term and/or low weight birth, whilst the remaining 42 (82.4%) had full-term delivery. In total 19 literature were retrieved, which had involved 278 cases of trisomy 7 signaled by NIPT, among which 5 fetuses with mosaic trisomy 7 (3.14%) were confirmed. Among the 211 women with follow-up outcomes, 2 (0.95%) had intrauterine growth restriction, 3 (1.42%) had abnormal fetal structure detected by ultrasound, 2 (0.95%) had miscarriage, 9 (4.27%) underwent pregnancy termination, 28 (13.27%) had preterm and/or low weight birth, whilst 167 (79.14%) had normal delivery. In 18 cases, chromosomal analysis of placental tissue was carried out, and 17 were confirmed to have mosaicism trisomy 7.
CONCLUSION
The PPV for trisomy 7 signaled by NIPT is extremely low. Although most of such women had a full term delivery, adverse pregnancy outcomes may still occur in a minority of cases. Clinicians should provide adequate genetic counseling for such women and recommend appropriate prenatal diagnosis strategies and optimal perinatal management plans.
Humans
;
Female
;
Pregnancy
;
Trisomy/diagnosis*
;
Chromosomes, Human, Pair 7/genetics*
;
Adult
;
Prenatal Diagnosis/methods*
;
Noninvasive Prenatal Testing/methods*
;
Pregnancy Outcome
;
Clinical Relevance
3.Epidemic characteristics of human brucellosis and awareness status among occupational populations in Xuzhou City, Jiangsu Province, 2023
Qiang ZHOU ; Haonan HAN ; Na LI ; Yunqiu ZHANG ; Mengcheng YU
Chinese Journal of Endemiology 2025;44(10):825-830
Objective:To investigate the epidemic characteristics of human brucellosis and the awareness of brucellosis prevention and control knowledge among occupational populations in Xuzhou City, Jiangsu Province.Methods:The data of brucellosis cases reported from January to December 2023 in the China Disease Prevention and Control Information System's Infectious Disease Surveillance System where the current residence was Xuzhou City, were collected. The epidemiological distribution characteristics across the three dimensions (time, region, and population) were analyzed, and the etiological characteristics of Brucella strains collected from sentinel hospitals in Xuzhou City during the same period were analyzed. Meanwhile, in September 2023, a survey was conducted on the awareness of brucellosis prevention and control knowledge among occupational populations in 7 counties (cities, districts) with a high incidence of brucellosis in Xuzhou City. Binary logistic regression was used to analyze the influencing factors. Results:In 2023, a total of 124 human brucellosis cases were reported in Xuzhou City, with an annual incidence rate of 1.37/100 000. Brucellosis occurred in all months of the year, with a peak incidence from May to August, accounting for 46.77% (58/124). The incidence rate of brucellosis in Feng County, Pei County, Suining County, Xinyi City and Pizhou City (1.86/100 000) was higher than that in Gulou District, Yunlong District, Quanshan District, Jiawang District and Tongshan District (0.71/100 000), with a statistically significant difference (χ 2 = 19.15, P < 0.001). Among 124 cases of brucellosis, 81 cases (65.32%) were males and 43 cases (34.68%) were females. The incidence rate of brucellosis in males (1.78/100 000) was higher than that in females (0.96/100 000), with a statistically significant difference (χ 2 = 11.08, P < 0.001). The 55 - 64 age group reported a relatively higher number of cases (45 cases, 36.29%), with an incidence rate of 3.97/100 000. The main occupation was farmers (85 cases, 68.55%). In 2023, a total of 9 strains of Brucella were collected from the sentinel hospitals in Xuzhou City, all of which were Brucella melitensis, mainly classified as biotype 3 (7/9). In 2023, a total of 984 occupational population with brucellosis were surveyed in Xuzhou City, and the overall awareness rate of brucellosis prevention and control knowledge was 3.25% (32/984). By binary logistic regression analysis, the awareness rates of brucellosis prevention and control knowledge among veterinarians and those with high school or vocational school education, college education or above were relatively high [ OR (95% CI): 21.24 (1.52 - 297.74), 13.32 (3.48 - 50.96), 18.90 (3.68 - 97.13), P < 0.05]. Conclusions:In 2023, the incidence rate of human brucellosis in Xuzhou City is at a relatively high level, with men, middle-aged and elderly people, and farmers as the main population. The awareness rate of brucellosis prevention and control knowledge among occupational population is relatively low, and it is necessary to strengthen publicity, education, and behavioral intervention.
4.Epidemic characteristics of human brucellosis and awareness status among occupational populations in Xuzhou City, Jiangsu Province, 2023
Qiang ZHOU ; Haonan HAN ; Na LI ; Yunqiu ZHANG ; Mengcheng YU
Chinese Journal of Endemiology 2025;44(10):825-830
Objective:To investigate the epidemic characteristics of human brucellosis and the awareness of brucellosis prevention and control knowledge among occupational populations in Xuzhou City, Jiangsu Province.Methods:The data of brucellosis cases reported from January to December 2023 in the China Disease Prevention and Control Information System's Infectious Disease Surveillance System where the current residence was Xuzhou City, were collected. The epidemiological distribution characteristics across the three dimensions (time, region, and population) were analyzed, and the etiological characteristics of Brucella strains collected from sentinel hospitals in Xuzhou City during the same period were analyzed. Meanwhile, in September 2023, a survey was conducted on the awareness of brucellosis prevention and control knowledge among occupational populations in 7 counties (cities, districts) with a high incidence of brucellosis in Xuzhou City. Binary logistic regression was used to analyze the influencing factors. Results:In 2023, a total of 124 human brucellosis cases were reported in Xuzhou City, with an annual incidence rate of 1.37/100 000. Brucellosis occurred in all months of the year, with a peak incidence from May to August, accounting for 46.77% (58/124). The incidence rate of brucellosis in Feng County, Pei County, Suining County, Xinyi City and Pizhou City (1.86/100 000) was higher than that in Gulou District, Yunlong District, Quanshan District, Jiawang District and Tongshan District (0.71/100 000), with a statistically significant difference (χ 2 = 19.15, P < 0.001). Among 124 cases of brucellosis, 81 cases (65.32%) were males and 43 cases (34.68%) were females. The incidence rate of brucellosis in males (1.78/100 000) was higher than that in females (0.96/100 000), with a statistically significant difference (χ 2 = 11.08, P < 0.001). The 55 - 64 age group reported a relatively higher number of cases (45 cases, 36.29%), with an incidence rate of 3.97/100 000. The main occupation was farmers (85 cases, 68.55%). In 2023, a total of 9 strains of Brucella were collected from the sentinel hospitals in Xuzhou City, all of which were Brucella melitensis, mainly classified as biotype 3 (7/9). In 2023, a total of 984 occupational population with brucellosis were surveyed in Xuzhou City, and the overall awareness rate of brucellosis prevention and control knowledge was 3.25% (32/984). By binary logistic regression analysis, the awareness rates of brucellosis prevention and control knowledge among veterinarians and those with high school or vocational school education, college education or above were relatively high [ OR (95% CI): 21.24 (1.52 - 297.74), 13.32 (3.48 - 50.96), 18.90 (3.68 - 97.13), P < 0.05]. Conclusions:In 2023, the incidence rate of human brucellosis in Xuzhou City is at a relatively high level, with men, middle-aged and elderly people, and farmers as the main population. The awareness rate of brucellosis prevention and control knowledge among occupational population is relatively low, and it is necessary to strengthen publicity, education, and behavioral intervention.
5.Clinical significance of trisomy 7 signaled by non-invasive prenatal testing and a literature review
Xinxin TANG ; Ting YIN ; Min CHEN ; Zhiwei WANG ; Yue ZHANG ; Fang ZHANG ; Yunqiu DU ; Yuhua SUN ; Leilei WANG
Chinese Journal of Medical Genetics 2025;42(1):12-17
Objective:To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT).Methods:Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database. Relevant information such as the incidence of trisomy 7 by NIPT, positive predictive value (PPV), and pregnancy outcomes were collected. This study has been approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No. JS2022010).Results:A total of 51 women with a high risk for trisomy 7 by NIPT were identified. Thirty-two of them had chosen chromosomal microarray analysis (CMA) of amniotic fluid cells, and 1 case of mosaic trisomy 7 was detected, which had yielded a PPV of 3.13%. Four women had opted termination of pregnancy, 1 had miscarriage, 4 had pre-term and/or low weight birth, whilst the remaining 42(82.4%) had full-term delivery. In total 19 literature were retrieved, which had involved 278 cases of trisomy 7 signaled by NIPT, among which 5 fetuses with mosaic trisomy 7 (3.14%) were confirmed. Among the 211 women with follow-up outcomes, 2 (0.95%) had intrauterine growth restriction, 3 (1.42%) had abnormal fetal structure detected by ultrasound, 2 (0.95%) had miscarriage, 9 (4.27%) underwent pregnancy termination, 28 (13.27%) had preterm and/or low weight birth, whilst 167 (79.14%) had normal delivery. In 18 cases, chromosomal analysis of placental tissue was carried out, and 17 were confirmed to have mosaicism trisomy 7.Conclusion:The PPV for trisomy 7 signaled by NIPT is extremely low. Although most of such women had a full term delivery, adverse pregnancy outcomes may still occur in a minority of cases. Clinicians should provide adequate genetic counseling for such women and recommend appropriate prenatal diagnosis strategies and optimal perinatal management plans.
6.Technical Analysis of Patentee of Domestic Clinical Intelligent Decision Support System
Dongyun ZHANG ; Chencheng LI ; Ce YIN ; Yunqiu ZHANG
Journal of Medical Informatics 2024;45(5):53-58
Purpose/Significance To analyze the technical situation of patent owners in the field of clinical decision support system(CDSS)in China as a whole,so as to provide references for CDSS related technical research.Method/Process Firstly,the CDSS patent data are analyzed from the aspects of application trend,patent disclosure,technology field distribution,etc.,then the patentees are di-vided into different categories,and their technical concerns are analyzed by word frequency and interword vector.Finally,the technology correlation and patent exclusives are analyzed based on the active patentees.Result/Conclusion The number of CDSS patent disclosure shows an overall increasing trend.This field has not formed a technological monopoly in China.Government departments and research in-stitutions should pay attention to the possible financial risks.
7.Prevalence of frailty and related factors in middle-aged and elderly people in island and mountainous areas of Taizhou, Zhejiang Province
Xinyue LIANG ; Qionggui ZHOU ; Liangyou WANG ; Shaling WANG ; Yali XIE ; Xuan YANG ; Jiayu HE ; Zhiyi ZHANG ; Miaochen WANG ; Shuxian HE ; Yunqiu ZHANG ; Tailin CHEN ; Xuanhe WU ; Tingting WANG ; Haijiang LIN ; Xiaoxiao CHEN ; Na HE
Chinese Journal of Epidemiology 2024;45(1):139-147
Objective:To compare the prevalence of frailty and related factors in middle-aged and elderly people aged ≥45 years in island and mountainous areas of Taizhou, Zhejiang Province.Methods:Based on cross-sectional design, stratified cluster sampling and quota sampling methods were adopted. One administrative district was randomly selected from each of six coastal and three inland administrative districts in Taizhou during July to August, representing two different geographical terrains. In the island area (Jiaojiang District), all residents aged ≥45 years were included by cluster sampling. In the mountainous area (Xianju County), participants were selected through quota sampling, with same gender and age distributions. Data about their demographic characteristics, lifestyle and health-related factors were collected through questionnaire surveys and laboratory examinations. The prevalence of frailty was assessed using the Fried frailty phenotype scale. Hierarchical analysis and multivariate logistic regression analysis were used to compare the influencing factors of frailty.Results:A total of 1 011 local residents were studied, in whom island and mountainous residents accounted for 48.1% (486/1 011) and 51.9% (525/1 011) respectively; men and women accounted for 45.9% (464/1 011) and 54.1% (547/1 011) respectively. Middle-aged (45-49 years), younger elderly (60-74 years), and older elderly (≥75 years) residents accounted for 38.6% (390/1 011), 44.6% (451/1 011), and 16.8% (170/1 011) respectively. The overall prevalence rate of frailty was 3.6% (36/1 011), the prevalence rate was 3.7% (17/464) in men and 3.5% (19/547) in women. The prevalence rates in age groups 45-59,60-74 years and ≥75 years were 0.3% (1/390), 2.2% (10/451), and 14.7% (25/170), respectively. The prevalence rates of frailty and pre-frailty in island area were 6.0% (29/486) and 39.1% (190/486), respectively, which was higher than those in mountainous area (1.3%, 7/525) and (30.9%, 162/525). After adjusting for potential confounding factors, the risk for frailty in island residents was significantly higher than that in mountainous residents (a OR=1.55,95% CI: 1.07-2.25, P=0.019). In island area, older age (60-74 years:a OR=2.52,95% CI: 1.56-4.13; ≥75 years:a OR=11.65,95% CI:5.38-26.70), being women (a OR=1.94,95% CI: 1.20-3.17), suffering from depression (a OR=1.09,95% CI:1.02-1.17) were associated with frailty symptoms. In mountainous area, older age was also associated with an increased risk of frailty symptoms, but the OR value was lower than those in island area (60-74 years: a OR=1.74,95% CI:1.04-2.94;≥75 years: a OR=4.78,95% CI:2.45-9.50). Polydrug use (a OR=2.08,95% CI: 1.14-3.80) and suffering from depression (a OR=1.10,95% CI: 1.02-1.18) had significant positive association with frailty symptoms. Higher education level had significant negative association with frailty symptoms (junior high school: a OR=0.40,95% CI: 0.21-0.75; senior high school and technical secondary school: a OR=0.29,95% CI: 0.15-0.53; college or above:a OR=0.22,95% CI: 0.11-0.42). Conclusions:The prevalence of frailty in middle-aged and elderly community residents was significantly higher in island area than in mountainous area in Taizhou. The frailty-related factors varied with area. The elderly people (≥75 years) and women in island area had higher risk for frailty. Older age and suffering from depression were the independent risk factors for frailty. It is necessary to pay attention to the health risk factors and special environment in island area, and take comprehensive intervention measures to delay the process of debilitation and improve the quality of life of middle-aged and elderly people.
8.Incidence of diabetes and influencing factors in HIV-infected individuals after antiretroviral therapy in Dehong Dai and Jingpo Autonomous Prefecture
Runhua YE ; Yunqiu ZHANG ; Dongdong CAO ; Yun SHI ; Guifang XIAO ; Pinyin LI ; Yuanwu XU ; Hua WEI ; Jinting SUN ; Yuecheng YANG ; Renhai TANG ; Jibao WANG ; Na HE ; Yingying DING ; Song DUAN
Chinese Journal of Epidemiology 2024;45(3):358-364
Objective:To understand the incidence of diabetes and influencing factors, the trend of FPG change and risk for mortality in HIV-infected individuals after antiretroviral therapy (ART) in Dehong Dai and Jingpo Autonomous Prefecture (Dehong).Methods:The HIV/AIDS treatment database was collected from China Information System for Disease Control and Prevention. This retrospective cohort study was conducted in HIV-infected individuals with access to ART in Dehong during 2004-2020.The Cox proportional hazard regression model was used to analyze the incidence density of diabetes, the influencing factors and risk for mortality in HIV-infected individuals with access to ART, mixed linear effects model was used to analyze the trend of FPG change and predict FPG in those with different glucose metabolic status at baseline survey. Statistical analysis was performed using software SAS 9.4.Results:A total of 8 763 HIV-infected individuals were included, in whom 8 432 (96.2%) had no diabetes, 331 had diabetes. The incidence density of diabetes was 2.31/1 000 person years. Multivariate Cox proportional hazard regression analysis revealed that 30- 59 years old, BMI ≥24.0 kg/m 2, Efavirenz (EFV) based initial treatment regimen and impaired fasting glucose (IFG) at baseline survey were significantly and positively associated with incidence of diabetes. Mixed effect model revealed that FPG was positively correlated with the duration of ART, age and baseline FPG. Suffering from diabetes was a risk factor for mortality in HIV-infected individuals both at baseline survey and during follow-up. Conclusions:The risk for diabetes increased in HIV-infected individuals who were 30-59 years old, baseline BMI ≥24.0 kg/m 2, received EFV based initial treatment, and IFG in HIV-infected individuals after antiretroviral therapy in Dehong, 2004-2020. It is important to pay close attention to their blood glucose, and patients with high blood glucose should receive treatment as early as possible.
9.Effect of enriched environment combined with acupuncture at head points on behavior in rats with autism spectrum disorder
Zichen MU ; Qiang TANG ; Yunqiu SHI ; Yan WANG ; Shuwei ZHU ; Ya'nan ZHUANG ; Danshuang XU ; Hongyu LI ; Baolong LI ; Chunyan ZHANG ; Mengke YUAN
Chinese Journal of Rehabilitation Theory and Practice 2024;30(2):176-182
ObjectiveTo observe the effect of enriched environment (EE) combined with acupuncture at head point (HA) on behavior in rats with autism spectrum disorder. MethodsHealthy female Wistar rats were given peritoneal injection of sodium valproate at 12.5 days of gestation. Twenty-four male offspring rats were randomly selected and then randomly divided into model group (n = 6), EE group (n = 6), HA group (n = 6) and EE combined with HA group (the combined group, n = 6). Six male offspring rats born from female mice injected with the same amount of saline intraperitoneally were as control group. After four weeks of treatment, all the five groups were tested with three-chamber test and marble burying test, and the sociability index, the social novelty index and the number of buried marbles were recorded. The levels of interleukin (IL)-1β and IL-6 in peripheral blood were determined by enzyme-linked immunosorbent assay (ELISA). ResultsAfter treatment, compared with the model group, the sociability index and the social novelty index improved (P < 0.05), the number of buried marbles reduced (P < 0.05), and the levels of IL-6 and IL-1β in peripheral blood decreased in EE group, HA group and the combined group (P < 0.05); while the combined group was the best (P < 0.01). ConclusionBoth EE or acupuncture at HA could improve behavioral symptoms, and reduce the expression of inflammatory factors in rats with autism spectrum disorder. The combination of the two methods showed the best result.
10.Clinical and genetic profiles of 985 Chinese families with skeletal dysplasia.
Shanshan LI ; Shanshan LYU ; Wenzhen FU ; Yunqiu HU ; Hua YUE ; Lin CHEN ; Zhenlin ZHANG
Chinese Medical Journal 2023;136(12):1485-1487

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