Background High blood pressure is a leading cardiovascular disease risk factor and considered to be associated with psychological factors.However,the causal relationships between blood pressure and anxiety,depressive ...Background High blood pressure is a leading cardiovascular disease risk factor and considered to be associated with psychological factors.However,the causal relationships between blood pressure and anxiety,depressive symptoms,neuroticism and subjective wellbeing are not clear.Aims The current study explored the genetic causal relationships between blood pressure and anxiety,depressive symptoms,neuroticism and subjective wellbeing.Methods Mendelian randomisation(MR)analyses were performed using the generalised summary-data-based MR analysis method with eight large-scale genome-wide association study datasets for hypertension,systolic blood pressure(SBP),diastolic blood pressure(DBP),pulse pressure,anxiety,depressive symptoms,neuroticism and subjective well-being.Results A causal effect of DBP on neuroticism was found,and 1074 independent instrumental single nucleotide polymorphisms were identified by the incorporated Heterogeneity in Dependent Instruments-outlier test among the bidirectional causal relationship between blood pressure and the four psychological states.Conclusions DBP has a causal effect on neuroticism.Appropriate management of blood pressure may reduce neuroticism,neuroticism-inducing mood disorders and cardiovascular diseases.展开更多
Introduction:This study aimed to evaluate the effectiveness and optimal course time of electro-acupuncture(EA)combined with conventional antipsychotics in the treatment of schizophrenia(SZ)and to provide a basis for i...Introduction:This study aimed to evaluate the effectiveness and optimal course time of electro-acupuncture(EA)combined with conventional antipsychotics in the treatment of schizophrenia(SZ)and to provide a basis for its clinical application.Methods:Relevant databases and authoritative websites were retrieved,and references were screened up to May 2021.Literature quality evaluation and data extraction were carried out according to the requirements of Cochrane version 5.1.0,and meta-analysis was conducted using Rav Man5.4 software.Results:In total,16 randomized controlled trails comprising 1352 patients were selected.Meta-analysis revealed that the observation group showed greater improvements than the control group in total clinical efficacy(P<0.00001,odds ratio[OR]=3.51,95% confidence interval[CI]=[2.51,4.91]),as well as better effective rate of symptom relief(P=0.02,MD=3.08,95%CI=[1.23,7.71]),and an improved negative symptom score(P=0.005,MD=-4.50,95%CI=[-6.52,-2.48]),positive symptom score(P<0.0001,MD=-1.41,95%CI=[-2.25,-0.57]),total score(P=0.001,MD=9.25,95%CI=[13.03,5.47]),and general psychopathological score(P<0.0001,MD=-2.30,95%CI=[-4.18,-0.43])in the Positive and Negative Syndrome Scale(PANSS).However,there was no statistically significant difference between the two groups in the effective rate of adverse reactions(P>0.05).In the 4-6 weeks following treatment,a significant improvement in all the four components of the PANSS scores was observed in the observation group.Conclusion:The efficacy of EA combined with conventional antipsychotics for SZ is better than that of psychiatric drugs alone.In addition,the effect of a 4-to 6-week treatment course on each outcome index is more significant,and the efficacy is higher.展开更多
Background Subjective well-being(SWB),also known as happiness,plays an important role in evaluating both mental and physical health.Adolescents deserve specific attention because they are under a great variety of stre...Background Subjective well-being(SWB),also known as happiness,plays an important role in evaluating both mental and physical health.Adolescents deserve specific attention because they are under a great variety of stresses and are at risk for mental disorders during adulthood.Aim The present paper aims to predict undergraduate students1 SWB by machine learning method.Methods Gradient Boosting Classifier which was an innovative yet validated machine learning approach was used to analyse data from 10518 Chinese adolescents.The online survey included 298 factors such as depression and personality.Quality control procedure was used to minimise biases due to online survey reports.We applied feature selection to achieve the balance between optimal prediction and result interpretation.Results The top 20 happiness risks and protective factors were finally brought into the predicting model.Approximately 90%individuals'SWB can be predicted correctly,and the sensitivity and specificity were about 92%and 90%,respectively.Conclusions This result identifies at-risk individuals according to new characteristics and established the foundation for adolescent prevention strategies.展开更多
Objective: Venlafaxine is a common antidepressant and its therapeutic effect varies among people with different genetic backgrounds. The aim of this study was to investigate whether single nucleotide polymorphisms (SN...Objective: Venlafaxine is a common antidepressant and its therapeutic effect varies among people with different genetic backgrounds. The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in theSLC17A7 gene are associated with the treatment outcome of venlafaxine in a Chinese Han population with major depressive disorder.Methods: This prospective pharmacogenetic case-control study that involved genotyping of four SNPs ofSLC17A7 was conducted on 175 major depressive disorder patients of Chinese Han origin, aged 18 to 65 years, participated in the study from April 2005 to September 2006. Comparisons of allele and genotype frequencies of all SNPs were performed between the responder/remission group and the nonresponder/nonremission group. This study was approved by the Institutional Ethics Committee of Sichuan University (approval No. 20151112-265).Results: The allele and genotype frequencies of the four candidate SNPs inSCL17A7 showed no significant difference between responders and nonresponders. Meanwhile, no significant difference was detected in the four investigatedSLC17A7 SNPs between patients who did and did not exhibit remission. Although one of the investigatedSLC17A7 variants (rs1578944) demonstrated a significant association (P=0.022) with a response to venlafaxine after 6 weeks of treatment in the survival analysis, the association was unclear after a Bonferroni multiple comparisons test was conducted.Conclusion: No significant association exists between the four candidate SNPs (rs1043558, rs1320301, rs1578944, and rs74174284) inSLC17A7 and venlafaxine treatment in the Chinese Han population.展开更多
Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis bu...Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy,Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a wellconstructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection,along with strong support at the national industry level.展开更多
Dear Editor,Previously,the Mendelian phe no types in huma n oocyte maturation arrest,fertilization failure and early embryonic arrest,are largely underestimated.In recent years,"missing"Men delian phe no typ...Dear Editor,Previously,the Mendelian phe no types in huma n oocyte maturation arrest,fertilization failure and early embryonic arrest,are largely underestimated.In recent years,"missing"Men delian phe no types and genes in these processes are beginning to be uncovered by us and others(Huang et al.,2014;Alazami et al..2015;Feng et al.,2016;Xu et al.,2016;Chen et al.,2017;Sang et al.,2019).However,the genetic basis for majority of patients resulting from abnormalities in these phe no types remains to be elucidated.展开更多
Cerebral palsy (CP) is a nonprogressive dyskinesia syndrome caused by early brain injury,with an incidence of approximately2.0—3.5/1000 live births worldwide (Li et al.,2021;Moreno-DeLuca et al.,2021).Currently,there...Cerebral palsy (CP) is a nonprogressive dyskinesia syndrome caused by early brain injury,with an incidence of approximately2.0—3.5/1000 live births worldwide (Li et al.,2021;Moreno-DeLuca et al.,2021).Currently,there are more than 300,000 children aged 0—6 years diagnosed with CP in China (Liu et al.,1999;Yang et al.,2021),thus making it one of the most common debilitating diseases affecting children.展开更多
Life may have first arisen on Earth billions of years ago in the form of viruses,which have had a significant influence on the evolution of all living creatures,including human beings.Some scientists believe that up t...Life may have first arisen on Earth billions of years ago in the form of viruses,which have had a significant influence on the evolution of all living creatures,including human beings.Some scientists believe that up to 8%of the human genome is derived from viruses,which are simple,primitive organisms with a variety of different shapes and sizes.展开更多
Targeted sequencing and whole exome sequencing are the most common approaches used to detect causative variants in Mendelian diseases;however, using DNA-based sequencing techniques, the current molecular diagnostic yi...Targeted sequencing and whole exome sequencing are the most common approaches used to detect causative variants in Mendelian diseases;however, using DNA-based sequencing techniques, the current molecular diagnostic yield is at best 50%. In recent years, RNA sequencing has been shown to be able to provide a genetic diagnosis in patients whose conditions were previously unable to be identified by DNA analysis. RNA sequencing can reveal expression outliers, aberrant splicing events, allele-specific expression, and new pathogenic variants, and as such can complement and expand on the traditional genomic methods used to diagnose Mendelian diseases. Therefore, RNA sequencing is expected to become a routine method for genetic diagnosis in the future. This article reviews the applications and challenges of RNA sequencing in the genetic diagnosis of Mendelian diseases.展开更多
基金the Natural Science Foundation of Shanghai(19ZR1427700).
文摘Background High blood pressure is a leading cardiovascular disease risk factor and considered to be associated with psychological factors.However,the causal relationships between blood pressure and anxiety,depressive symptoms,neuroticism and subjective wellbeing are not clear.Aims The current study explored the genetic causal relationships between blood pressure and anxiety,depressive symptoms,neuroticism and subjective wellbeing.Methods Mendelian randomisation(MR)analyses were performed using the generalised summary-data-based MR analysis method with eight large-scale genome-wide association study datasets for hypertension,systolic blood pressure(SBP),diastolic blood pressure(DBP),pulse pressure,anxiety,depressive symptoms,neuroticism and subjective well-being.Results A causal effect of DBP on neuroticism was found,and 1074 independent instrumental single nucleotide polymorphisms were identified by the incorporated Heterogeneity in Dependent Instruments-outlier test among the bidirectional causal relationship between blood pressure and the four psychological states.Conclusions DBP has a causal effect on neuroticism.Appropriate management of blood pressure may reduce neuroticism,neuroticism-inducing mood disorders and cardiovascular diseases.
文摘Introduction:This study aimed to evaluate the effectiveness and optimal course time of electro-acupuncture(EA)combined with conventional antipsychotics in the treatment of schizophrenia(SZ)and to provide a basis for its clinical application.Methods:Relevant databases and authoritative websites were retrieved,and references were screened up to May 2021.Literature quality evaluation and data extraction were carried out according to the requirements of Cochrane version 5.1.0,and meta-analysis was conducted using Rav Man5.4 software.Results:In total,16 randomized controlled trails comprising 1352 patients were selected.Meta-analysis revealed that the observation group showed greater improvements than the control group in total clinical efficacy(P<0.00001,odds ratio[OR]=3.51,95% confidence interval[CI]=[2.51,4.91]),as well as better effective rate of symptom relief(P=0.02,MD=3.08,95%CI=[1.23,7.71]),and an improved negative symptom score(P=0.005,MD=-4.50,95%CI=[-6.52,-2.48]),positive symptom score(P<0.0001,MD=-1.41,95%CI=[-2.25,-0.57]),total score(P=0.001,MD=9.25,95%CI=[13.03,5.47]),and general psychopathological score(P<0.0001,MD=-2.30,95%CI=[-4.18,-0.43])in the Positive and Negative Syndrome Scale(PANSS).However,there was no statistically significant difference between the two groups in the effective rate of adverse reactions(P>0.05).In the 4-6 weeks following treatment,a significant improvement in all the four components of the PANSS scores was observed in the observation group.Conclusion:The efficacy of EA combined with conventional antipsychotics for SZ is better than that of psychiatric drugs alone.In addition,the effect of a 4-to 6-week treatment course on each outcome index is more significant,and the efficacy is higher.
基金This work was supported by the National Key Research and Development Program(2016YFC0906400,2016YFC1307000,2016YFC0905000)the National Nature Science Foundation of China(81421061,81361120389)+2 种基金the Shanghai Key Laboratory of Psychotic Disorders(13dz2260500)the Shanghai Leading Academic Discipline Project(B205)the Fundamental Research Funds for the Central Universities(16JXRZ01).
文摘Background Subjective well-being(SWB),also known as happiness,plays an important role in evaluating both mental and physical health.Adolescents deserve specific attention because they are under a great variety of stresses and are at risk for mental disorders during adulthood.Aim The present paper aims to predict undergraduate students1 SWB by machine learning method.Methods Gradient Boosting Classifier which was an innovative yet validated machine learning approach was used to analyse data from 10518 Chinese adolescents.The online survey included 298 factors such as depression and personality.Quality control procedure was used to minimise biases due to online survey reports.We applied feature selection to achieve the balance between optimal prediction and result interpretation.Results The top 20 happiness risks and protective factors were finally brought into the predicting model.Approximately 90%individuals'SWB can be predicted correctly,and the sensitivity and specificity were about 92%and 90%,respectively.Conclusions This result identifies at-risk individuals according to new characteristics and established the foundation for adolescent prevention strategies.
基金This work was supported by the National Key Research and Development Program(Nos.2016YFC0906400,2016YFC1307000,2016YFC0905000,2017YFC0909200)the National Nature Science Foundation of China(Nos.81671326,81421061,81361120389,31701086)+4 种基金the Interdis-ciplinary Program of Shanghai Jiao Tong University(No.YG2019ZDA30)the Shanghai Key Laboratory of Psychotic Disorders(No.13dz2260500)Shanghai Municipal Science and Technology Major Project(No.2017SHZDZX01)the Shanghai Leading Academic Discipline Project(No.B205)the Capacity Building Planning Program for Shanghai Women and Children's Health Service(the Collaborative Innovation Center Project Construction for Shanghai Women and Children's Health,as well as the Project for Enhancing the Service Capacity of Shanghai Women and Children Health Care Institutions).
文摘Objective: Venlafaxine is a common antidepressant and its therapeutic effect varies among people with different genetic backgrounds. The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in theSLC17A7 gene are associated with the treatment outcome of venlafaxine in a Chinese Han population with major depressive disorder.Methods: This prospective pharmacogenetic case-control study that involved genotyping of four SNPs ofSLC17A7 was conducted on 175 major depressive disorder patients of Chinese Han origin, aged 18 to 65 years, participated in the study from April 2005 to September 2006. Comparisons of allele and genotype frequencies of all SNPs were performed between the responder/remission group and the nonresponder/nonremission group. This study was approved by the Institutional Ethics Committee of Sichuan University (approval No. 20151112-265).Results: The allele and genotype frequencies of the four candidate SNPs inSCL17A7 showed no significant difference between responders and nonresponders. Meanwhile, no significant difference was detected in the four investigatedSLC17A7 SNPs between patients who did and did not exhibit remission. Although one of the investigatedSLC17A7 variants (rs1578944) demonstrated a significant association (P=0.022) with a response to venlafaxine after 6 weeks of treatment in the survival analysis, the association was unclear after a Bonferroni multiple comparisons test was conducted.Conclusion: No significant association exists between the four candidate SNPs (rs1043558, rs1320301, rs1578944, and rs74174284) inSLC17A7 and venlafaxine treatment in the Chinese Han population.
基金supported by Ministry of Science and Technology Project (2017YFC1001302 and 2016YFC0906400)the Grant of Shanghai Brain-Intelligence Project from the Shanghai Science and Technology Committee (STCSM) (16JC1420500)Shanghai Jiao Tong University Medical Engineering Cross Research Foundation (YG2014MS07)
文摘Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy,Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a wellconstructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection,along with strong support at the national industry level.
文摘Dear Editor,Previously,the Mendelian phe no types in huma n oocyte maturation arrest,fertilization failure and early embryonic arrest,are largely underestimated.In recent years,"missing"Men delian phe no types and genes in these processes are beginning to be uncovered by us and others(Huang et al.,2014;Alazami et al..2015;Feng et al.,2016;Xu et al.,2016;Chen et al.,2017;Sang et al.,2019).However,the genetic basis for majority of patients resulting from abnormalities in these phe no types remains to be elucidated.
基金supported by the Shanghai Municipal Commission of Science and Technology Research Project(19JC1411000)the National Key Research and Development Plan for Stem Cell and Transformation Research(2017YFA0104202)+8 种基金the National Natural Science Foundation of China(U1604165,U1704281,81771418,31972880)the collaborative innovation center project construction for Shanghai women and children’s health(15GWZK0401)the Department of Science and Technology,Henan Province,China(171100310200)Health Department of Henan Province(SB201901055)the Swedish Research Council(2018-02667)Swedish Governmental grants to scientists working in health care(ALFGBG-717791)VINNMER-Marie Curie(VINNOVA,201504780)the Henan Medical Science and Technique Foundation(212102310221)the National Health Commission Key Laboratory of Birth Defects Prevention and Henan Key Laboratory of Population Defects Prevention(2021—03)。
文摘Cerebral palsy (CP) is a nonprogressive dyskinesia syndrome caused by early brain injury,with an incidence of approximately2.0—3.5/1000 live births worldwide (Li et al.,2021;Moreno-DeLuca et al.,2021).Currently,there are more than 300,000 children aged 0—6 years diagnosed with CP in China (Liu et al.,1999;Yang et al.,2021),thus making it one of the most common debilitating diseases affecting children.
文摘Life may have first arisen on Earth billions of years ago in the form of viruses,which have had a significant influence on the evolution of all living creatures,including human beings.Some scientists believe that up to 8%of the human genome is derived from viruses,which are simple,primitive organisms with a variety of different shapes and sizes.
基金This work was supported by the National Key Research and Development Program of China (Nos. 2018YFC1003800, 2017YFC1001500, and 2016YFC1000600)the National Natural Science Foundation of China (Nos. 81725006, 81822019, 81771581, 81971450, and 81971382)+5 种基金Shanghai Municipal Science and Technology Major Project (No. 2017SHZDZX01)Project of Shanghai Municipal Science and Technology Commission (No. 19JC1411001)the Natural Science Foundation of Shanghai (No. 19ZR1444500)Shuguang Program of Shanghai Education Development Foundation and Shanghai Municipal Education Commission (No. 18SG03)the Foundation of Shanghai Health and Family Planning Commission (No. 20154Y0162)the Capacity Building Planning Program for Shanghai Women and Children’s Health Service, and the Collaborative Innovation Center Project Construction for Shanghai Women and Children’s Health.
文摘Targeted sequencing and whole exome sequencing are the most common approaches used to detect causative variants in Mendelian diseases;however, using DNA-based sequencing techniques, the current molecular diagnostic yield is at best 50%. In recent years, RNA sequencing has been shown to be able to provide a genetic diagnosis in patients whose conditions were previously unable to be identified by DNA analysis. RNA sequencing can reveal expression outliers, aberrant splicing events, allele-specific expression, and new pathogenic variants, and as such can complement and expand on the traditional genomic methods used to diagnose Mendelian diseases. Therefore, RNA sequencing is expected to become a routine method for genetic diagnosis in the future. This article reviews the applications and challenges of RNA sequencing in the genetic diagnosis of Mendelian diseases.