1.Genetic Causation Analysis of Hyperandrogenemia Testing Indicators and Preeclampsia
Chanyu LIN ; Jingbo CHEN ; Xiaomiao ZHAO
Journal of Sichuan University (Medical Sciences) 2024;55(3):566-573
Objective Some epidemiological studies have shown that pregnant women who develop preeclampsia(PE)have elevated levels of testosterone in their maternal plasma compared to women with normal blood pressure during pregnancy,revealing a potential association between hyperandrogenism in women and PE.To explore the causal relationship between hyperandrogenism and PE,this study selected total testosterone(TT),bioavailable testosterone(BIOT),and sex hormone binding globulin(SHBG)as exposure factors and PE and chronic hypertension with superimposed PE as disease outcomes.Two-sample Mendelian randomization(MR)analyses were used to genetically dissect the causal relationships between the three exposure factors(TT,BIOT,and SHBG)and the outcomes of PE and chronic hypertension with superimposed PE.Methods Two independent genome-wide association study(GWAS)databases were used for the two-sample MR analysis.In the GWAS data of female participants from the UK Biobank cohort,single nucleotide polymorphisms(SNPs)associated with TT,BIOT,and SHBG were analyzed,involving 230 454,188 507,and 188 908 samples,respectively.GWAS data on PE and chronic hypertension with superimposed PE from the Finnish database were used to calculate SNP,involving 3 556 PE cases and 114 735 controls,as well as 38 cases of chronic hypertension with superimposed PE and 114 735 controls.To meet the assumptions of instrumental relevance and independence in MR analysis,SNPs associated with exposure were identified at the genome-wide level(P<5.0×10-8),and those in linkage disequilibrium interference were excluded based on clustering thresholds of R2<0.001 and an allele distance greater than 10 000 kb.Known confounding factors,including previous PE,chronic kidney disease,chronic hypertension,diabetes,systemic lupus erythematosus,or antiphospholipid syndrome,were also identified and the relevant SNPs were removed.Finally,we extracted the outcome data based on the exposure-related SNPs in the outcome GWAS,integrating exposure and outcome data,and removing palindromic sequences.Five genetic causal analysis methods,including inverse variance-weighted method(IVW),MR-Egger regression,weighted median method,simple mode method,and weighted mode method,were used to infer causal relationships.In the IVW,it was assumed that the selected SNPs satisfied the three assumptions and provided the most ideal estimate of the effect.IVW was consequently used as the primary analysis method in this study.Considering the potential heterogeneity among the instrumental variables,random-effects IVW was used for MR analysis.The results were interpreted using odds ratios(OR)and the corresponding 95% confidence interval(CI)to explain the impact of exposure factors on PE and chronic hypertension with superimposed PE.If the CI did not include 1 and had a P value less than 0.05,the difference was considered statistically significant.Sensitivity analysis was conducted to assess heterogeneity and pleiotropy.Heterogeneity was examined using Cochran's Q test,and pleiotropy was assessed using MR-Egger intercept analysis.Additionally,leave-one-out analysis was conducted to examine whether individual SNPs were driving the causal associations.To further validate the findings,MR analyses were performed using the same methods and outcome variables,but with different exposure factors,including waist-to-hip ratio adjusted for BMI(WHRadjBMI)and 25-hydroxyvitamin D levels,with MR results for WHRadjBMI and PE serving as the positive controls and MR results for 25-hydroxyvitamin D levels and PE as the negative controls.Results According to the criteria for selecting genetic instrumental variables,186,127,and 262 SNPs were identified as genetic instrumental variables significantly associated with testosterone indicators TT,BIOT,and SHBG.MR analysis did not find a causal relationship between the TT,BIOT,and SHBG levels and the risk of developing PE and chronic hypertension with superimposed PE.The IVW method predicted that genetically predicted TT(OR[95% CI]=1.018[0.897-1.156],P=0.78),BIOT(OR[95% CI]=1.11[0.874-1.408],P=0.392),and SHBG(OR[95% CI]=0.855[0.659-1.109],P=0.239)were not associated with PE.Similarly,genetically predicted TT(OR[95% CI]=1.222[0.548-2.722],P=0.624),BIOT(OR[95% CI]=1.066[0.242-4.695],P=0.933),and SHBG(OR[95% CI]=0.529[0.119-2.343],P=0.402)were not significantly associated with chronic hypertension with superimposed PE.Additionally,MR analysis using the MR-Egger method,weighted median method,simple mode method,and weighted mode method yielded consistent results,indicating no significant causal relationship between elevated testosterone levels and PE or chronic hypertension with superimposed PE.Heterogeneity was observed for SHBG in the analysis with PE(Cochran's Q test,P=0.01),and pleiotropy was detected for BIOT in the analysis with PE(MR-Egger intercept analysis,P=0.014),suggesting that the instrumental variables did not affect PE through BIOT.Other instrumental variables did not show significant heterogeneity or pleiotropy.Leave-one-out analysis confirmed that the results of the MR analysis were not driven by individual instrumental variables.Consistent with previous MR studies,the results of the control MR analyses using WHRadjBMI and 25-hydroxyvitamin D levels supported the accuracy of the MR analysis approach and the methods used in this study.Conclusion The MR analysis results suggest that current genetic evidence does not support a causal relationship between TT,BIOT,and SHBG levels and the development of PE and chronic hypertension with superimposed PE.This study suggests that elevated testosterone may be a risk factor for PE but not a direct cause.
2.Social, ethical and legal issues of ovum freezing
Sushi JIANG ; Yabo YANG ; Yanjun FAN ; Fu BAI ; Shen LIN ; Dongzi YANG ; Xiaomiao ZHAO
Chinese Journal of Reproduction and Contraception 2020;40(10):871-875
The rapid development of oocyte cryopreservation in recent years has provided a new means for the preservation of women's fertility. Some assisted reproductive institutions in China have gradually carried out the clinical application of oocyte cryopreservation. However, oocyte cryopreservation is far behind embryo and sperm freezing in terms of technology, and cryopreservation of human oocytes can only be used as one of the options for female fertility preservation. Morever, allowing the egg bank completely has much management difficulties in our country, which can easily lead to ethical problems. However, there is a real need for oocyte cryopreservation in women with premature ovarian failure who are about to undergo radiotherapy and chemotherapy. This article summarizes the social, ethical and technical issues and controversies that may arise from egg freezing, and introduces the laws and regulations in various countries. We expect the healthy development of egg freezing technology and can satisfy the needs and wishes of women's reproduction effectively within a reasonable range.
3.Social, ethical and legal issues of ovum freezing
Sushi JIANG ; Yabo YANG ; Yanjun FAN ; Fu BAI ; Shen LIN ; Dongzi YANG ; Xiaomiao ZHAO
Chinese Journal of Reproduction and Contraception 2020;40(10):871-875
The rapid development of oocyte cryopreservation in recent years has provided a new means for the preservation of women's fertility. Some assisted reproductive institutions in China have gradually carried out the clinical application of oocyte cryopreservation. However, oocyte cryopreservation is far behind embryo and sperm freezing in terms of technology, and cryopreservation of human oocytes can only be used as one of the options for female fertility preservation. Morever, allowing the egg bank completely has much management difficulties in our country, which can easily lead to ethical problems. However, there is a real need for oocyte cryopreservation in women with premature ovarian failure who are about to undergo radiotherapy and chemotherapy. This article summarizes the social, ethical and technical issues and controversies that may arise from egg freezing, and introduces the laws and regulations in various countries. We expect the healthy development of egg freezing technology and can satisfy the needs and wishes of women's reproduction effectively within a reasonable range.
4.Effects of oral training on language rehabilitation in autism spectrum disorders children
Weihua CHEN ; Linxia ZOU ; Lixing YANG ; Xiaomiao LIN
Chinese Journal of Primary Medicine and Pharmacy 2015;(22):3379-3381
Objective To explore the effect of oris(oral)muscles training on speech language rehabilitation for autism spectrum disorders children.Methods 40 cases were divided into 2 groups,20 cases in each group.The control group was treated with language cognitive training.The observation group was treated with language cognitive combined with oris(oral)muscles training.The treatment was given for 6 months.S -S(sign -significate relationgs) was used to evaluate the language development quotient of the two groups.Results After treatment,the language development quotient was significantly improved compared with before treatment(P <0.05),and the language expres-sion quotient of the observation group was more effective than the control group(t =2.434,P <0.05).The language comprehension quotient and operation quotient of the two groups had no significant differences.Conclusion Oris muscles training combined with language cognitive is more effective on language expression capability of autism spec-trum disorders children.
5.Predictive Validity of General Movements Assessment for Neurological Development Outcome of High-risk Pre-mature Infants in Different Gestational Ages
Xinggu LIN ; Xiaomiao LIN ; Linxia ZOU ; Xiong SONG
Chinese Journal of Rehabilitation Theory and Practice 2015;21(6):683-688
Objective To compare predicting validity of general movements (GMs) assessment for neurodevelopment outcome of high-risk premature infants in different gestational age. Methods 180 participants were divided into group A (28 to 31+6 gestational weeks), group B (32 to 33+6 gestational weeks) and group C (34 to 36+6 gestational weeks) according to gestational age, and evaluated by GMs assess-ments in the stage of writhing-movement and fidgety-movement respectively. They were evaluated with GMs assessment and Gesell devel-opmental scale, and cerebral palsy was diagnosed clinically. Results 133 infants were normal and 47 infants with developmental delay, in which 10 were with cerebral palsy. The sensitivity was 40.4%, the specificity was 90.2%, the positive predictive value was 59.4%, the nega-tive predictive value was 81.1% in the stage of writhing-movement; and it was 27.7%, 99.2%, 92.9% and 79.5% in the stage of fidg-ety-movement, respectively. There was no significantly difference in the detection rate among different age groups (P=0.610, P=0.765, P=0.290). Conclusion The absent fidgety-movement (F-) is the highest, and cramped-synchronized (CS) is the secondly to predict the motor de-velopmental outcome. There was no difference of GMs assessment to detect the neurodevelopmental outcome in premature infants of 28 to 36+6 gestational weeks.
6.Effect of sensory integration training on motor function of cerebral palsy children
Weihua CHEN ; Xiong SONG ; Linxia ZOU ; Xiaomiao LIN ; Lixing YANG ; Yanjiao LIANG
Chinese Journal of Primary Medicine and Pharmacy 2013;20(3):367-368
Objective To observe the effect of sensory integration training on motor function of cerebral palsy children.Methods 42 children with cerebral palsy were divided into two groups,with 22 cases in observation group,20 cases in control group.All children were treated with mainly Bobath technique based rehabilitation therapy,while those of observation group were added sensory integration training for 3 months.We used GMFM-88 to estimate the gross motor function of the two groups.Results After treatment,the scores of GMFM-88 significantly improved in both groups,GMFM scores of the observation group were more effective than thoes of the control group(t =2.481,P =0.018).Conclusion Sensory integration training based on tradition neural movement therapy can improve gross motor function in children with cerebral palsy,can significantly improve the curative effect of rehabilitation.
7.Effects of Body Weight Support Training on Walking for Children with Cerebral Palsy
Weihua CHEN ; Xiong SONG ; Linxia ZOU ; Xiaomiao LIN ; Lixing YANG
Chinese Journal of Rehabilitation Theory and Practice 2013;19(3):250-251
Objective To observe the effects of body weight support training on walking ability of children with cerebral palsy. Methods 40 cases were divided into observation group (n=20) and control group (n=20). All the children accepted rehabilitation therapy based on Bobath approach and biofeedback, while those of observation group accepted body weight support training in addition, for 2 months. They were assessed with Gross Motor Function Measure (GMFM) D and E dimension before and after treatment. Results Both the scores of D and E dimension significantly improved in both groups after treatment (P<0.05), and improved more in the observation group than in the control group (P<0.05). Conclusion Body weight support training can further improve the walking ability in children with cerebral palsy.
8.Effect of Acupuncture Combined with Core Stability Therapy on Cerebral Palsy
Xiong SONG ; Xiaomiao LIN ; Linxia ZOU
Chinese Journal of Rehabilitation Theory and Practice 2011;17(1):68-69
ObjectiveTo observe the effect of acupuncture combined with core stability therapy on gross motor function of children with cerebral palsy. Methods80 cases were divided into 2 groups, 40 cases in each group. The control group was treated with routine physical therapy. The observation group was treated with acupuncture combined with core stability therapy. They were assessed with Gross Motor Function Measure (GMFM-88) before and 3 months after treatment. ResultsAfter treatment, the scores of GMFM-88 significantly improved in both groups (P<0.05), and improved more in the observation group than in the control group (P<0.05). ConclusionAcupuncture combined with core stability therapy can effectively improve the gross motor function in children with cerebral palsy.
9.Effects of Oral Training on Speech for Mental Retardation
Linxia ZOU ; Xiong SONG ; Ying LAN ; Yuanyuan XIONG ; Na ZHANG ; Xiaomiao LIN
Chinese Journal of Rehabilitation Theory and Practice 2011;17(3):267-268
ObjectiveTo explore the effect of oral training on speech for mental retardation child. Methods40 cases were divided into 2 groups, 20 cases in each group. The control group was treated with language cognitive training. The observation group was treated with language cognitive combined with oral training. The treatment was given for 3 months. Sign-significance Test (S-S) was used to evaluate the language development before and after treatment. ResultsThe language development quotient significantly improved after treatment (P<0.05), and the language expression quotient of the observation group improved more than that in the control group (P<0.05), but the language comprehension quotient and operation quotient of the both were no significantly different. ConclusionLanguage cognitive combined with oral training is more effective on language expression capability of mental retardation child.
10.Effect of Scalp Acupuncture Combined with Speech Training on Language Development Delay in Mental Retardation Children
Linxia ZOU ; Xiong SONG ; Xiaomiao LIN ; Ying LAN ; Yuanyuan XIONG
Chinese Journal of Rehabilitation Theory and Practice 2011;17(5):418-419
Objective To observe the effect of scalp acupuncture combined with speech training on language development delay in mental retardation children. Methods 40 cases were divided into 2 groups, 20 cases in each group. The observation group was treated with scalp acupuncture combined with speech training. The control group was treated with speech training. They were assessed with the development quotient (DQ) of adaptability and language of Gesell Developmental Schedules before and 3 months after the treatment. Results DQ of adaptability and language improved after treatment in both groups (P<0.05), and improved more in the observation group than in the control group (P<0.05). Conclusion Scalp acupuncture combined with the speech training is more effective on language development delay in mental retardation children.


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