1.Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.
Yunyun LIU ; Jing WANG ; Ling WANG ; Lin CHEN ; Dan XIE ; Li WANG ; Sha LIU ; Jianlong LIU ; Ting BAI ; Xiaosha JING ; Cechuan DENG ; Tianyu XIA ; Jing CHENG ; Lingling XING ; Xiang WEI ; Yuan LUO ; Quanfang ZHOU ; Ling LIU ; Qian ZHU ; Hongqian LIU
Chinese Medical Journal 2025;138(4):499-501
2.The relationship between kinesin superfamily 18B,20A and epithelial-mesenchymal transition markers,clinicopathological features and prognosis in nasopharyngeal carcinoma
Yunyun BAI ; Le JIA ; Fuquan CHEN
Chinese Archives of Otolaryngology-Head and Neck Surgery 2025;32(1):1-7
OBJECTIVE To investigate the relationship between kinesin superfamily(KIF)18B,20A and epithelial-mesenchymal transition(EMT)markers,clinicopathological features and prognosis in nasopharyngeal carcinoma.METHODS 116 cases of nasopharyngeal biopsy tumor tissues diagnosed as nasopharyngeal carcinoma in Department of Otolaryngology,Yulin Traditional Chinese Medicine Hospital from July 2017 to May 2019 were selected,nasal mucosa biopsy tissues of 116 chronic nasopharyngitis patients were used as control,the expression of KIF18B,KIF20A,and EMT markers epithelial calreticulin(E-cadherin),vimentin,twist in nasopharyngeal carcinoma tissues and nasopharyngeal chronic mucositis tissues were compared.The relationship between KIF18B,KIF20A expression and EMT marker expression and clinicopathological features in nasopharyngeal carcinoma tissues were analyzed.5 years after follow-up,the relationship between KIF18B,KIF20A expression and the prognosis of nasopharyngeal carcinoma patients were analyzed by the Kaplan-Meier method and multivariate Cox regression analysis.RESULTS The positive expression rates of KIF18B,KIF20A,Vimentin and Twist in nasopharyngeal carcinoma tissues were 55.17%,42.24%,20.69%,and 26.72%respectively,which were higher than 13.79%,9.48%,4.31%,and 5.17%in nasopharyngeal chronic mucosal inflammation tissues;The positive expression rate of E-cadherin in nasopharyngeal carcinoma tissues was 68.10%,which was lower than 91.38%in nasopharyngeal chronic mucosal inflammation tissues(P<0.05).KIF18B and KIF20A were negatively correlated with E-cadherin expression(rs=-0.439,-0.432,P<0.05),KIF18B,KIF20A were positively correlated with Vimentin(rs=0.418,0.456,P<0.05)and Twist(rs=0.427,0.427,P<0.05).The KIF18B and KIF20A positive expression rates in patients with low differentiation,lymph node metastasis,TNM stage Ⅲ-Ⅵa,clinical efficacy stable disease(SD)/progressive disease(PD)were higher than those in patients with high differentiation,no lymph node metastasis,stage Ⅰ-Ⅱ,and complete response(CR)/partial response(PR)(P<0.05).4 patients were lost to 5 years after follow-up,the success rate of follow-up was 96.55%(112/116),31 patients died,and the 5-year overall survival rate was 72.32%(81/112).The 5-year cumulative survival rate in KIF18B and KIF20A positive expression nasopharyngeal carcinoma patients were lower than those in KIF18B and KIF20A negative expression nasopharyngeal carcinoma patients(P<0.05).TNM stage Ⅲ-Ⅵa(HR=1.154,95%CI:1.018-1.308),clinical efficacy SD/PD(HR=1.287,95%CI:1.132-1.654),KIF18B(HR=1.823,95%CI:1.332-2.493)and positive expression of KIF20A(HR=2.110,95%CI:1.460-3.051)were independent risk factors affecting the prognosis of nasopharyngeal carcinoma patients(P<0.05).CONCLUSION KIF18B and KIF20A are abnormally highly expressed in nasopharyngeal carcinoma tissues,the positive expression of the two are closely related to EMT,tumor malignant progression and prognosis,and KIF18B,KIF20A positive expression patients have shorter survival time.
3.Development and evaluation of a machine learning prediction model for large for gestational age
Xi BAI ; Yunyun LUO ; Zhibo ZHOU ; Mingliang SU ; Liuqing YANG ; Shi CHEN ; Hongbo YANG ; Huijuan ZHU ; Hui PAN
Chinese Journal of Epidemiology 2021;42(12):2143-2148
Objective:To develop and validate a useful predictive model for large gestational age (LGA) in pregnancy using a machine learning (ML) algorithm and compare its performance with the traditional logistic regression model.Methods:Data were obtained from the National Free Preconception Health Examination Project in China, carried out in 220 counties of 31 provinces from 2010 to 2012, covering all rural couples with a planned pregnancy. This study included all teams of childbearing age who delivered newborns within 24-42 weeks of gestational age and their newborns. Ten different ML algorithms were used to establish LGA prediction models, and the prediction performance of these models was evaluated.Results:A total of 104 936 newborns were included, including 54 856 boys (52.3%) and 50 080 girls (47.7%). The incidence of LGA was 11.7% (12 279). The imbalance between the two groups was addressed by the under- sampling technique, after which the overall performance of the ML models was significantly improved. The CatBoost model achieved the highest area under the receiver-operating-characteristic curve (AUC) value of 0.932. The logistic regression model had the worst performance, with an AUC of 0.555.Conclusions:In predicting the risk for LGA in pregnancy, the ML algorithms outperform the traditional logistic regression method. Compared to other ML algorithms, CatBoost could improve the performance, and it deserves further investigation.
4.A randomized controlled clinical trial on the effects of wearing orthokeratology and spectacles on ocular peripheral refraction in myopic children
Shifei WEI ; Shiming LI ; Yunyun SUN ; Mengtian KANG ; Bo MENG ; Anran RAN ; Ran YAN ; Yawen BAI ; Chen ZHUO ; Ningli WANG
Chinese Journal of Experimental Ophthalmology 2017;35(10):930-935
Background It has been reported that orthokeratology has the effects of slowing down myopia progression and axial elongation.However,the affecting mechanism of orthokeratology wearing on ocular peripheral refraction is still not elucidated.Objective This study was to observe and compare the changes of ocular peripheral refraction and relative peripheral refraction (RPR) in low to moderate myopic eyes of children after wearing orthokeratology lens and spectacles for 6 months.Methods A randomized controlled clinical trial was carried out after approval of Ethic Committee of Beijing Tongren Hospital and informed consent of guardians of the children.One hundred myopic children aged (ll.0±1.9) years were recruited in Beijing Tongren Hospital from June 2014 to January 2015,with the diopter of-0.50 to-6.00 D.The subjects were randomized into orthokeratology group and spectacles group by the process PLAN PROC of software SAS 9.1.3,50 for each group.The subjects in the orthokeratology group wore orthokeratology lens for 6 months and those in the spectacles group wore spectacles for the same period.An infrared open-field autorefractor was employed to measure the refraction at central 0°,temporal 15°,temporal 30°,nasal 15°and nasal 30° radial lines before and after wearing lens for the assessment and comparison of the changes of peripheral refraction and RPR.Results There was no significant difference in spherical equivalent between the orthokeratology group and the spectacles group before wearing lens ([-3.35±1.31] D versus [-3.01± 1.15] D,P =0.20).The peripheral refraction values in the orthokeratology group were (-2.28 ± 1.60),(-3.28±1.41),(-3.40±1.23),(-3.38±1.12) and (-2.09±1.29)D at nasal 15°and nasal30°,central,temporal 15° and temporal 30°radial lines before wearing lens,and reduced by (0.29±1.67),(0.85±1.66),(0.92±1.76) and (0.66±1.66) D at nasal 30°,nasal 15°,central and temporal 15° after wearing lens,respectively,with significant differences at nasal 15°,central and temporal 15°(all at P<0.05).The peripheral refraction values in the spectacles group were (-1.88±1.30),(-2.66±1.18),(-2.89±1.27) and (-1.94±1.31)D at nasal 15°,nasal 30°,temporal 15 ° and temporal 30°,radial lines before wearing lens and increased by (-0.25±0.80),(-0.43 ±0.67),(-0.32±0.64) and (-0.22±0.75)D after wearing lens,respectively,with significant differences between before and after wearing lens (all at P<0.05).The RPR shifted from hyperopia defocus to myopia defocus before and after wearing lens in temporal 15° and 30° radial lines in the orthokeratology group,and at various radial lines in the spectacles group,the RPR showed gradually worsening of hyperopia defocus.Conclusions Long-term wearing of orthokeratology results in a hyperopia shifting in myopic children by exposing the peripheral retina towards relative myopia defocus,whereas wearing spectacles leads to a relative hyperopia defocus on retina.Thus,orthokeratology may slow down the myopia progression.

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