1.Analysis of the current status and associated factors of nutritional literacy among primary and secondary school students in Beijing
Chinese Journal of School Health 2024;45(11):1551-1554
Objective:
To understand the nutritional literacy level and associated factors of primary and secondary school students in Beijing, so as to provide a scientific basis for improving student nutrition.
Methods:
From October 2022 to May 2023, a multi stage cluster random sampling method was employed to select a total of 14 568 primary, junior and senior high school students from 16 districts (ecluding the Economic Technological Development area) in Beijing. Through a survey questionnaire on nutritional literacy and dietary hehavior of school age children, basic information as well as data on nutritional literacy levels across four dimensions:nutrition related knowledge concepts, food selection, food preparation, and food intake dimensions were obtained. The Wilcoxon rank sum test, Kruskal-Wallis test, Spearman correlation analysis, Chi square test and binary Logistic regression were used for the analysis.
Results:
The median total score of nutritional literacy among primary and secondary school students in Beijing was 68.8. Approximately 26.0% of primary and secondary school students achieved nutritional literacy standards. The median scores and rates of meeting the standards for nutrition related knowledge concepts, food selection, food preparation and food intake dimensions were 23.0, 42.1%; 17.0, 27.4%; 6.5, 33.5%; 23.0, 33.3%, respectively. There were positive correlations between all pairs of the four dimensions ( r=0.33-0.49, P <0.05). The results of multiple Logistic regression analysis showed that primary school students, junior high school students, female students, suburban students, caregivers with a college education level and a bachelor s degree or above were the positive arrelation factors that promoted the achievement of nutritional literacy standards ( OR =2.21, 1.39, 1.18, 1.27, 1.42, 1.66, P <0.05).
Conclusion
The literacy level of primary and secondary school students in Beijing needs to be significantly improved. School stage, gender, region and caregiver s education level are associated factors.
2.Effects of filament B knockdown on proliferation,migration and apoptosis of mouse MC3T3-E1 cells
Xi WANG ; Li YU ; Qiyu JIA ; Jinyong HUANG ; Zebiao LIU ; Jun ZHANG ; Dilimulati JIAYIDAER ; Zengru XIE ; Hairong MA
Chinese Journal of Tissue Engineering Research 2024;28(32):5177-5181
BACKGROUND:Filamin B(FLNB)can crosslink the actin cytoskeleton into a dynamic structure that is essential for the directional movement of cells.It can regulate the proliferation,differentiation and apoptosis of chondrocytes.However,the effect of FLNB on osteoblast proliferation,migration and apoptosis has not been reported. OBJECTIVE:To investigate the effect of FLNB on the proliferation,migration and apoptosis of MC3T3-E1 cells. METHODS:The adenoviral vectors for knockdown of FLNB expression(sh-FLNB1,sh-FLNB2,sh-FLNB3)were constructed and infected with MC3T3-E1 cells.After screened by puromycin drug,the efficiency of FLNB knockdown was detected by western blot and RT-PCR.The MC3T3-E1 cell line with the best efficiency of FLNB knockdown was selected as the stable transient cell line of MC3T3-E1 for subsequent experiments.The cells were divided into blank group,mc3t3 group,sh-NC group(empty vector),and sh-FLNB group(sh-FLNB lentivirus).The blank group was cultured in cell-free α-MEM complete medium;the mc3t3 group was cultured in α-MEM complete medium alone;and the sh-NC and sh-FLNB groups were cultured with α-MEM medium containing 2.5 μg/mL puromycin.After 3 days of culture,cell counting kit-8 assay and cell scratch assay were used to detect the proliferation and migration ability of MC3T3-E1;flow cytometry was used to detect cell apoptosis;and RT-PCR was used to detect the expression of apoptosis-related genes. RESULTS AND CONCLUSION:Western blot and RT-PCR results showed that the efficiency of FLNB knockdown was the best in the sh-FLNB3(P<0.000 1),which was used as a stable cell line for subsequent experiments.Cell counting kit-8 data showed that the proliferative ability of MC3T3 cells was significantly weakened after knockdown of FLNB(P<0.05).Cell scratch assay results showed that the migration ability of MC3T3 cells was significantly decreased after knockdown of FLNB.Flow cytometry and RT-PCR results showed that the apoptotic rate of MC3T3-E1 cells increased after knockdown of FLNB,the expression of pro-apoptotic factor Bax increased significantly,and the expression of anti-apoptotic factor Bcl-2 decreased significantly(P<0.05).To conclude,knockdown of FLNB can reduce the proliferation ability of MC3T3-E1 cells,decrease the migration ability of the cells,and increase cell apoptosis.
3.Circular RNAs are involved in the pathogenesis of osteoarthritis through intracellular mechanisms
Lijun ZHOU ; Keyuan ZHANG ; Xi WANG ; Li YU ; Feihu XU ; Hong DING ; Hairong MA
Chinese Journal of Tissue Engineering Research 2024;28(35):5716-5722
BACKGROUND:Currently,there is no drug that can completely cure osteoarthritis and its pathogenesis is still unclear.Circular RNAs(circRNAs)are differentially expressed in patients with osteoarthritis and are closely associated with various pathological processes in osteoarthritis.circRNAs play an important role in various physiological and pathological processes,such as chondrocyte homeostasis,extracellular matrix formation,and inflammatory response. OBJECTIVE:To mainly review the effects of circRNAs on pathological factors related to osteoarthritis,as well as the types and expression levels of circRNAs in osteoarthritis. METHODS:Related articles published from 1976 to August 2023 were retrieved from CNKI,WanFang,VIP,PubMed,Medline,Web of Science and Elsevier databases.The keywords were"osteoarthritis,circular RNA,non-coding RNA,synovial tissue,chondrocytes"in Chinese and English,respectively.All the relevant articles were screened,summarized,analyzed,and finally 69 papers were included in the review. RESULTS AND CONCLUSION:circRNAs are non-coding RNAs widely found in eukaryotic cells,with covalently closed continuous loop structure,but with no 5'hat structure and 3'poly A tail,which are involved in multi-gene and multi-target regulatory networks and cannot be degraded by nucleic acid exonucleases(RNase R).circRNAs have a high abundance,high conservativeness and stability,and cell and tissue specificity.circRNAs have biological functions such as acting as molecular sponges for miRNAs,regulating linear RNA transcription and RNA shearing,interacting with RNA-bound proteins,and translating proteins.circRNAs regulate chondrocyte apoptosis and proliferation,degradation of cartilage extracellular matrix,and inflammation and other physiopathologic processes.circRNAs are expected to become biomarkers and potential therapeutic targets for clinical diagnosis and prognosis of osteoarthritis,and may become a new strategy for clinical treatment of osteoarthritis in the future.
4.Influencing factors for chronic pancreatitis complicated by pancreatogenic portal hypertension and establishment of a predictive model
Jiani YANG ; Zhini MA ; Yingxia HU ; Zongshuai LI ; Yan LIU ; Hairong ZHANG ; Yinglei MIAO
Journal of Clinical Hepatology 2024;40(7):1438-1445
Objective To investigate the influencing factors for chronic pancreatitis(CP)complicated by pancreatogenic portal hypertension(PPH),and to establish a predictive model.Methods A retrospective analysis was performed for the clinical data of 99 patients with CP complicated by PPH who were hospitalized in The First Affiliated Hospital of Kunming Medical University,Chuxiong Yi Autonomous Prefecture People's Hospital,Wenshan People's Hospital,and Puer People's Hospital from January 2017 to December 2022,and these patients were enrolled as PPH group.The incidence density sampling method was used to select 198 CP patients from databases as control group.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 chi-square test or the Fisher's exact test was used for comparison of categorical data between two groups.The Least Absolute Shrinkage and Selection Operator(LASSO)regression model was used to identify the potential predictive factors for CP complicated by PPH,and the predictive factors obtained were included in the multivariate Logistic regression analysis to obtain independent risk factors,which were used to establish a nomogram prediction model.The receiver operating characteristic(ROC)curve,the calibration curve,and the Hosmer-Lemeshow goodness-of-fit test were used to perform internal validation of the model,and the clinical decision curve was used to assess the clinical practicability of the model.Results There were significant differences between the two groups in sex,history of recurrent acute pancreatitis attacks,acute exacerbation of CP,bile duct stones,peripancreatic fluid accumulation,pseudocysts,pulmonary infection,elevated C-reactive protein(CRP),elevated procalcitonin,fibrinogen(FIB),neutrophil-lymphocyte ratio(NLR),gamma-glutamyl transpeptidase,total bilirubin,direct bilirubin,low-density lipoprotein(LDL),serum amylase,D-dimer,and serum albumin(all P<0.05).The predictive variables obtained by the LASSO regression analysis included sex,recurrent acute pancreatitis attacks,bile duct stones,peripancreatic fluid accumulation,pulmonary infection,pseudocysts,CRP,NLR,FIB,and LDL.The multivariate Logistic regression analysis showed that sex(odds ratio[OR]=2.716,P<0.05),recurrent acute pancreatitis attacks(OR=2.138,P<0.05),peripancreatic fluid accumulation(OR=2.297,P<0.05),pseudocysts(OR=2.805,P<0.05),and FIB(OR=1.313,P<0.05)were independent risk factors for CP complicated by PPH.The above factors were fitted into the model,and the Bootstrap internal validation showed that the nomogram model had an area under the ROC curve of 0.787(95%confidence interval:0.730—0.844),and the calibration curve was close to the reference curve.The Hosmer-Lemeshow goodness-of-fit test showed that the model had a good degree of fitting(χ2=7.469,P=0.487).The clinical decision curve analysis showed that the prediction model had good clinical practicability.Conclusion Male sex,recurrent acute pancreatitis attacks,peripancreatic fluid accumulation,pseudocysts,and FIB are independent risk factors for CP complicated by PPH,and the nomogram model established has good discriminatory ability,calibration,and clinical practicability.
5.Study on risk prediction model of neck work-related musculoskeletal disorders among automobile manufacturing enterprise workers
Hairong LI ; Yan YAO ; Shufeng LIU ; Hao MA ; Yong MEI ; Jiabing WU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2024;42(8):573-580
Objective:To explore the risk factors of neck work-related musculoskeletal disorders (WMSDs) among automobile manufacturing enterprise workers, and construct the risk prediction model.Methods:In May 2022, a cluster convenience sampling method was used to selet all front-line workers from an automobile manufacturing factory in Xiangyang City as the research objects. And a questionnaire survey was conducted using the modified Musculoskeletal Disorders Questionnaire to analyze the occurrence and exposure to risk factors of neck WMSDs. Logistic regression was used to analyze the influencing factors of workers' neck WMSDs symptoms, and Nomogram column charts was used to construct the risk prediction model. The accuracy of the model was evaluated by the receiver operating characteristic (ROC) curve, the Bootstrap resampling method was used to verify the model, Hosmer-Lemeshow goodness of fit test was used to evaluate the model, and the Calibration curve was drawn.Results:A total of 1783 workers were surveyed, and the incidence of neck WMSDs symptoms was 24.8% (442/1783). Univariate logistic regression showed that age, female, smoking, working in uncomfortable postures, repetitive head movement, feeling constantly stressed at work, and completing conflicting tasks in work could increase the risk of neck WMSDs symptoms in automobile manufacturing enterprise workers ( OR=1.37, 95% CI: 1.16-1.62; OR=2.85, 95% CI: 1.56-5.20; OR=1.50, 95% CI: 1.18-1.91; OR=1.18, 95% CI: 1.02-1.37; OR=1.34, 95% CI: 1.04-1.72; OR=1.62, 95% CI: 1.21-2.17; OR=1.48, 95% CI: 1.13-1.92; P<0.05). While adequate rest time could reduce the risk of neck WMSDs symptoms ( OR=0.56, 95% CI: 0.52-0.86, P<0.05). The risk prediction model of neck WMSDs of workers in automobile manutacturing factory had good prediction efficiency, and the area under the ROC curve was 0.72 (95% CI: 0.70-0.75, P<0.001) . Conclusion:The occurrence of neck WMSDs symptoms of workers in automobile manufacturing factory is relatively high. The risk prediction model constructed in this study can play a certain auxiliary role in predicting neck WMSDs symptoms of workers in automobile manufacturing enterprise workers.
6.Study on risk prediction model of neck work-related musculoskeletal disorders among automobile manufacturing enterprise workers
Hairong LI ; Yan YAO ; Shufeng LIU ; Hao MA ; Yong MEI ; Jiabing WU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2024;42(8):573-580
Objective:To explore the risk factors of neck work-related musculoskeletal disorders (WMSDs) among automobile manufacturing enterprise workers, and construct the risk prediction model.Methods:In May 2022, a cluster convenience sampling method was used to selet all front-line workers from an automobile manufacturing factory in Xiangyang City as the research objects. And a questionnaire survey was conducted using the modified Musculoskeletal Disorders Questionnaire to analyze the occurrence and exposure to risk factors of neck WMSDs. Logistic regression was used to analyze the influencing factors of workers' neck WMSDs symptoms, and Nomogram column charts was used to construct the risk prediction model. The accuracy of the model was evaluated by the receiver operating characteristic (ROC) curve, the Bootstrap resampling method was used to verify the model, Hosmer-Lemeshow goodness of fit test was used to evaluate the model, and the Calibration curve was drawn.Results:A total of 1783 workers were surveyed, and the incidence of neck WMSDs symptoms was 24.8% (442/1783). Univariate logistic regression showed that age, female, smoking, working in uncomfortable postures, repetitive head movement, feeling constantly stressed at work, and completing conflicting tasks in work could increase the risk of neck WMSDs symptoms in automobile manufacturing enterprise workers ( OR=1.37, 95% CI: 1.16-1.62; OR=2.85, 95% CI: 1.56-5.20; OR=1.50, 95% CI: 1.18-1.91; OR=1.18, 95% CI: 1.02-1.37; OR=1.34, 95% CI: 1.04-1.72; OR=1.62, 95% CI: 1.21-2.17; OR=1.48, 95% CI: 1.13-1.92; P<0.05). While adequate rest time could reduce the risk of neck WMSDs symptoms ( OR=0.56, 95% CI: 0.52-0.86, P<0.05). The risk prediction model of neck WMSDs of workers in automobile manutacturing factory had good prediction efficiency, and the area under the ROC curve was 0.72 (95% CI: 0.70-0.75, P<0.001) . Conclusion:The occurrence of neck WMSDs symptoms of workers in automobile manufacturing factory is relatively high. The risk prediction model constructed in this study can play a certain auxiliary role in predicting neck WMSDs symptoms of workers in automobile manufacturing enterprise workers.
7.Epidemiological trends and major risk attribution analysis of pancreatic cancer in China, Japan and South Korea from 1990 to 2019
Yifei MA ; Hairong HE ; Tian'ao YAN ; Jiachun DING ; Ze'en ZHU ; Zheng WU ; Qingyong MA ; Zheng WANG
Chinese Journal of Digestive Surgery 2022;21(4):507-519
Objective:To analyze the epidemiological trends and major risk attribution of pancreatic cancer in China, Japan and South Korea from 1990 to 2019.Methods:The descriptive epidemiological method was conducted. The overall incidence rate, mortality rate, age-standardized incidence rate (ASIR) and age-standardized mortality rate (ASMR) of pancreatic cancer in China, Japan and South Korea from 1990 to 2019 were collected from the Global Burden of Disease (GBD) Database. Age-standardized rates were calculated based on the worldwide standardized population structure provided by GBD Database 2019. Observation indicators: (1) incidence and motality of pancreatic cancer in China, Japan and South Korea in 2019; (2) age-period-cohort model analysis of incidence and mortality rates of pancreatic cancer in China, Japan and South Korea from 1990 to 2019; (3) trends of ASIR and ASMR of pancreatic cancer in China, Japan and South Korea from 1990 to 2019; (4) trends of major risk attribution of pancreatic cancer related death in China, Japan and South Korea from 1990 to 2019. Count data were represented as absolute numbers, percentages and ratios. Joinpoint V.4.7.0.0 software was used to calculate the annual percentage change (APC), the average annual percentage change (AAPC) of incidence and mortality rates of pancreatic cancer in different time periods and 95% confidence interval (95% CI). The age-period-cohort model in STATA V.15.0 software was used to analyze the influence of different ages, periods and birth cohorts on the risk of onset and death of pancreatic cancer after controlling the other two variables, with the risk effect size described as relative risk (95% CI). Results:(1) Incidence and motality of pancreatic cancer in China, Japan and South Korea in 2019. In 2019, the incidence rate of pancreatic cancer in China increased from 0.07/100,000 among 15-19 years old to 64.01/100,000 among 85-89 years old, with increasing from 0.09/100,000 to 94.71/100,000 in males and from 0.04/100,000 to 47.47/100,000 in females. The mortality rate of pancreatic cancer in China increased from 0.04/100,000 among 15-19 years old to 79.58/100,000 among 85-89 years old, with increasing from 0.05/100,000 to 116.50/100,000 in males and from 0.03/100,000 to 59.69/100,000 in females. The incidence rate of pancreatic cancer in Japan increased from 0.03/100,000 among 15-19 years old to 162.26/100,000 among 85-89 years old, with increasing from 0.03/100,000 to 177.67/100,000 in males and from 0.04/100,000 to 153.67/100,000 in females. The mortality rate of pancreatic cancer in Japan increased from 0.02/100,000 among 15-19 years old to 154.88/100,000 among 85-89 years old, with increasing from 0.02/100,000 to 170.93/100,000 in males and from 0.02/100,000 to 145.94/100,000 in females. The incidence rate of pancreatic cancer in South Korea increased from 0.04/100,000 among 15-19 years old to 136.78/100,000 among 85-89 years old, with increasing from 0.03/100,000 to 153.78/100,000 in males and from 0.04/100,000 to 129.73/100,000 in females. The mortality rate of pancreatic cancer in South Korea increased from 0.02/100,000 among 15-19 years old to 135.98/100,000 among 85-89 years old, with increasing from 0.02/100,000 to 156.21/100,000 in males and from 0.02/100,000 to 127.59/100,000 in females. The peak incidence and mortality of pancreatic cancer in China were found in males aged 65-69 years, and the overall incidence and mortality of males in different age groups were higher than those of females in the same age group. In Japan, the peak incidence of pancreatic cancer occurred in females aged 80-84 years and the peak mortality occurred in males aged 75-79 years. The morbidity and mortality of males aged <80 years were higher than those of females in the same age group, while the morbidity and mortality of males aged ≥80 years were lower than those of females in the same age group. In South Korea, the peak incidence of pancreatic cancer occurred in females aged 80-84 years, and the peak mortality occurred in males aged 70-74 years. The morbidity and mortality of males aged <75 years were higher than those of females in the same age group, while the morbidity and mortality of males aged ≥75 years were lower than those of females in the same age group. (2) Age-period-cohort model analysis of incidence and mortality rates of pancreatic cancer in China, Japan and South Korea from 1990 to 2019. Age effect: after adjustment for the period and cohort effects, the risk of incidence and mortality rates of pancreatic cancer in both males and females of China, Japan and South Korea increased with age, which is more obvious in females than males, and more obvious in Japanese than Chinese and Korean populations. Period effect: after adjustment for age and cohort effects, the risk of incidence and mortality rates of pancreatic cancer in both males and females of China, Japan and South Korea increased from 1990 to 2019, with the period effect more significant in the Chinese population. Cohort effect: after adjustment for age and period effects, the risk of morbidity and mortality rates of pancreatic cancer decreased with the passage of birth cohort in China, Japan and South Korea. (3) Trends of ASIR and ASMR of pancreatic cancer in China, Japan and South Korea from 1990 to 2019. The ASIR and ASMR of pancreatic cancer in China increased yearly from 1990 to 2019, and the ASIR and ASMR in 2019 were 1.82 times and 1.79 times those in 1990, respectively. The ASIR and ASMR of pancreatic cancer in Japan showed a slowly increasing trend, and the ASIR and ASMR in 2019 were 1.09 times and 1.05 times those in 1990, respectively. The ASIR and ASMR of pancreatic cancer in South Korea increased firstly, then decreased, and slowly increased. From 1990 to 2019, the AAPC of ASIR of pancreatic cancer in China was 2.08% (95% CI as 1.91% to 2.24%, P<0.05) and AAPC of ASMR was 2.02% (95% CI as 1.86% to 2.19%, P<0.05). The AAPC of ASIR of pancreatic cancer in Japan was 0.28% (95% CI as 0.15% to 0.42%, P<0.05) and AAPC of ASMR was 0.13% (95% CI as 0.03% to 0.24%, P<0.05). The AAPC of ASIR of pancreatic cancer in South Korea was 0.50% (95% CI as 0.21% to 0.80%, P<0.05) and AAPC of ASMR was 0.15% (95% CI as -0.10% to 0.40%, P>0.05). (4) Trends of major risk attribution of pancreatic cancer related death in China, Japan and South Korea from 1990 to 2019. The main risk factors for pancreatic cancer related death in China, Japan and South Korea from 1990 to 2019 were smoking, high fasting glucose and high body mass index (BMI). The trend of pancreatic cancer related death, mainly attributed to smoking, showed that the proportion of Chinese males increased from 31.4% in 1990 to 34.1% in 2000, then decreased to 31.1% in 2015, and then showed a slow increase to 31.7% in 2019. The proportion of Chinese females increased from 6.7% in 1990 to 10.4% in 2005 and then dropped to 8.7% in 2019. The proportion of Japanese males decreased from 38.8% in 1990 to 26.9% in 2019 and the proportion of Japanese females decreased from 20.9% in 1990 to 14.8% in 2019. The proportion of South Korean males decreased from 37.5% in 1990 to 30.3% in 2019 and the proportion of South Korean females decreased from 12.6% in 1990 to 10.0% in 2019. The trend of pancreatic cancer related death proportion, mainly attributed to high fasting blood glucose, showed that the proportion of Chinese males increased from 5.9% in 1990 to 7.1% in 2019 and the propor-tion of Chinese females increased from 6.2% in 1990 to 6.8% in 2019. The proportion of Japanese males increased from 7.0% in 1990 to 7.7% in 2019 and the proportion of females increased from 5.0% in 1990 to 5.5% in 2019. The proportion of South Korean males increased from 6.8% in 1990 to 9.7% in 2019 and the proportion of females increased from 6.1% in 1990 to 8.2% in 2019. The trend of pancreatic cancer related deaths proportion, attributed mainly to high BMI, showed that the proportion of Chinese males increased from 1.3% in 1990 to 3.0% in 2019 and the proportion of females increased from 2.1% in 1990 to 4.3% in 2019. The proportion of Japanese males increased from 2.0% in 1990 to 2.4% in 2019 and the proportion of females increased from 3.1% in 1990 to 3.4% in 2019. The proportion of South Korean males increased from 1.9% in 1990 to 3.1% in 2019 and the proportion of females increased from 3.4% in 1990 to 4.3% in 2019. Conclusions:The incidence of pancreatic cancer in China may continue to rise but to be stable in Japan and South Korea. The incidence of pancreatic cancer in females, especially elderly women, needs more attention. Smoking remains the most critical risk factor for pancreatic cancer. More attention should also be paid to the increased risk of pancreatic cancer associated with high BMI and high fasting plasma glucose.
8.Application effect of standardized nursing scheme centered on children and families in the nursing of children with cerebral palsy
Peng LIU ; Hairong MA ; Jing WU
Chinese Journal of Modern Nursing 2022;28(19):2634-2638
Objective:To construct a standardized nursing scheme for children with cerebral palsy based on a child- and family-centered nursing model and to evaluate its effect on quality of life and self-care ability of daily life in children with cerebral palsy.Methods:Using the convenient sampling method, a total of 120 children with cerebral palsy and 120 parents who were initially hospitalized for rehabilitation in Department of Rehabilitation Medicine of the First People's Hospital of Urumqi from August 2017 to August 2019 were selected as the research objects. According to the random number table method, the children and primary caregivers were divided into the control group and the observation group, with 60 children and 60 parents in each group. The control group was given routine rehabilitation nursing, while the observation group was given a standardized nursing scheme centered on children and families on the basis of the control group. The improvement of quality of life and daily living ability of children with cerebral palsy before the intervention and 12 weeks after the intervention were compared between the two groups.Results:After intervention, the scores of quality of life and self-care ability in daily life in the observation group were better than those in the control group, and the differences were statistically significant ( P<0.05) . Conclusions:Standardized nursing scheme centered on children and families can improve quality of life and daily self-care ability of children with cerebral palsy, which is worthy of clinical application.
9.Prenatal diagnosis of monogenic global developmental delay/intellectual disability in 43 pedigrees
Liling LIN ; Ying ZHANG ; Hairong WU ; Hong PAN ; Jingmin WANG ; Yinan MA ; Yu QI
Chinese Journal of Perinatal Medicine 2021;24(1):20-27
Objective:To summarize the prenatal diagnostic characteristics of monogenic global developmental delay/intellectual disability(GDD/ID) pedigrees.Methods:This study retrospectively collected the prenatal molecular diagnostic results of 43 pedigrees that were affected with monogenic GDD/ID in the genetic counseling clinic of Peking University First Hospital from January 2015 to June 2019. The results of prenatal molecular tests were validated after birth or pregnancy termination. Pregnancy outcomes and healthy condition of the offspring were followed up. All data were analyzed by descriptive statistical analysis.Results:Among the 43 pedigrees, 24 were affected with autosomal recessive inheritance (AR) GDD/ID, in which six (25%) fetuses were found to carry two pathogenic variants; 13 (55%) had only one pathogenic variant; five (20%) did not harbor any variant. GDD/ID inherited in an autosomal dominant inheritance (AD) pattern was found in 13 pedigrees, in which 11 fetuses carried no variants while the other two fetuses had the same variants as the proband had (in one pedigree, a low-level variant was detected in the peripheral blood sample of the father while absent in peripheral blood samples of parents in the other pedigree, so it was suspected that the variants of these two affected fetuses were inherited from parental mosaicism). In the other six pedigrees with X-linked inheritance (XL) of GDD/ID, one male fetus was found to harbor the pathogenic variant, while no variants were detected in the others. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. Postnatal validations were consistent with the prenatal tests. All nine affected fetuses were terminated, and the other thirty-four children were delivered and in good health.Conclusions:Prenatal molecular diagnostic test is an effective method to detect pathogenic variants during the first and second trimesters for pedigrees affected by monogenic GDD/ID. For pedigrees affected with AD or XL patterns caused by de novo mutations, potential parental mosaicism should be noted and prenatal diagnostic tests are also recommended.
10.Prenatal diagnosis of X-linked adrenoleukodystrophy in 20 pedigrees
Siwen LIU ; Lin LI ; Hairong WU ; Xuefei ZHENG ; Pei PEI ; Hong PAN ; Xinhua BAO ; Yu QI ; Yinan MA
Chinese Journal of Perinatal Medicine 2021;24(6):410-416
Objective:To summarize the characteristics of genetic variation and prenatal diagnosis in pedigrees with X-linked adrenoleukodystrophy (X-ALD) and elucidate the value of prenatal diagnosis in preventing the birth of children with X-ALD.Methods:Twenty pedigrees, clinically diagnosed with X-ALD in Peking University First Hospital from November 2012 and March 2019, were included in this retrospective study. Genomic DNA was extracted from peripheral blood and amniotic fluid or chorionic villi samples of probands and their families for detecting variants in ATP-binding cassette subfamily D member 1 ( ABCD1) gene using polymerase chain reaction (PCR)-Sanger sequencing. Linkage analysis was also performed on five microsatellite markers near ABCD1 gene to exclude maternal contamination. Characteristics of ABCD1 gene variants and prenatal diagnosis of X-ALD pedigrees were summarized by descriptive statistics. Results:Twenty ABCD1 gene variants were identified in the 20 pedigrees. The variants in three probands that were not detected by next-generation sequencing were identified by PCR-Sanger sequencing. Among the mothers of the 20 probands, 17 carried ABCD1 variants and three did not. We performed 24 prenatal diagnoses on 20 pregnancies (24 fetuses) and identified eight fetuses with variants who were finally terminated. The 16 cases without variants were born alive. The validation results obtained after termination or delivery were consistent with those performed prenatally. Conclusions:No hotspot variants in ABCD1 gene are detected in these X-ALD patients and most variants are maternally inherited. PCR-Sanger sequencing is an effective method for detecting ABCD1 variants. Prenatal diagnosis for mothers who had a body with X-ALD could prevent another one from birth.


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