Methylenetetrahydrofolate reductase(MTHFR)deficiency is a rare autosomal recessive genetic disorder caused by mutations in the MTHFR gene,leading to a variety of clinical manifestations.In October 2022,the Second Xian...Methylenetetrahydrofolate reductase(MTHFR)deficiency is a rare autosomal recessive genetic disorder caused by mutations in the MTHFR gene,leading to a variety of clinical manifestations.In October 2022,the Second Xiangya Hospital of Central South University admitted a 21-year-old male patient with neuropsychiatric disorders,presenting primarily with cognitive decline,limb tremors,abnormal mental and behavioral symptoms,seizures,and gait disturbances.These symptoms had gradually developed over 5 years,worsening significantly in the past year.The patient’s plasma homocysteine levels were 10 times higher than normal,and brain MRI revealed brain atrophy and significant abnormal signals in the bilateral paraventricular nuclei and heads of the bilateral caudate nuclei.Further genetic testing identified a paternal mutation c.1604G>A(p.R535Q)and a maternal mutation c.227T>G(p.L76R)of the MTHFR gene.After betaine supplementation,the plasma homocysteine levels decreased within a week,and the symptoms improved.The patient was ultimately diagnosed with severe hyperhomocysteinemia due to MTHFR deficiency.The c.227T>G(p.L76R)mutation represents a novel missense mutation in the MTHFR gene associated with MTHFR deficiency,but further research is needed to confirm its potential pathogenicity.Early treatment with betaine can fully reverse the symptoms.展开更多
Based on the tunnel shape, span and depth, the previous elliptical plate model and clamped beam model were modified.The modified model was applied to different situations. For the elliptical plate model, the water eff...Based on the tunnel shape, span and depth, the previous elliptical plate model and clamped beam model were modified.The modified model was applied to different situations. For the elliptical plate model, the water effects were considered. For the clamped beam model, water and horizontal stress were considered. Corresponding potential functions and cusp catastrophe models of rock system were established based on the catastrophe theory. The expressions of critical safety thickness were derived with necessary and sufficient conditions. The method was applied to the practical engineering. Some parameters related to the stability were discussed. The results show that elastic modulus and thickness are advantageous to the floor stability, and that the load, span,horizontal stress and water are disadvantageous to the floor stability.展开更多
This paper presents a risk evaluation model of water and mud inrush for tunnel excavation in karst areas.The factors affecting the probabilities of water and mud inrush in karst tunnels are investigated to define the ...This paper presents a risk evaluation model of water and mud inrush for tunnel excavation in karst areas.The factors affecting the probabilities of water and mud inrush in karst tunnels are investigated to define the dangerousness of this geological disaster.The losses that are caused by water and mud inrush are taken into consideration to account for its harmfulness.Then a risk evaluation model based on the dangerousness-harmfulness evaluation indicator system is constructed,which is more convincing in comparison with the traditional methods.The catastrophe theory is used to evaluate the risk level of water and mud inrush and it has great advantage in handling problems involving discontinuous catastrophe processes.To validate the proposed approach,the Qiyueshan tunnel of Yichang-Wanzhou Railway is taken as an example in which four target segments are evaluated using the risk evaluation model.Finally,the evaluation results are compared with the excavation data,which shows that the risk levels predicted by the proposed approach are in good agreements with that observed in engineering.In conclusion,the catastrophe theory-based risk evaluation model is an efficient and effective approach for water and mud inrush in karst tunnels.展开更多
To explore the influence of karst cavity pressure on the failure mechanisms of rock layers above water-filled caves, novel blow-out and collapse mechanisms are put forward in this study. The proposed method uses the n...To explore the influence of karst cavity pressure on the failure mechanisms of rock layers above water-filled caves, novel blow-out and collapse mechanisms are put forward in this study. The proposed method uses the nonlinear optimization to obtain the failure profiles of surrounding layered rock with water-filled cave at the bottom of the tunnel. By referring to the functional catastrophe theory, stability analysis with different properties in different rock layers is implemented with considering the incorporation of seepage forces since the groundwater cannot be ignored in the catastrophe analysis of deep tunnel bottom. Also the parametric analysis is implemented to discuss the influences of different rock strength factors on the failure profiles. In order to offer a good guide of design for the excavation of deep tunnels above the water-filled caves, the proposed method is applied to design of the minimum effective height for rock layer. The results obtained by this work agree well with the existing published ones.展开更多
Limit analysis of the stability of geomechanical projects is one of the most difficult problems.This work investigates the influences of different parameters in NL failure strength on possible collapsing block shapes ...Limit analysis of the stability of geomechanical projects is one of the most difficult problems.This work investigates the influences of different parameters in NL failure strength on possible collapsing block shapes of single and twin shallow tunnels with considering the effects of surface settlement.Upper bound solutions derived by functional catastrophe theory are used for describing the distinct characteristics of falling blocks of different parts in twin tunnels.Furthermore the analytical solutions of minimum supporting pressures in shallow tunnels are obtained by the help of the variational principle.Lastly,the comparisons are made both in collapsed mechanism and stability factor with different methods.According to the numerical results in this work,the influences of different parameters on the size of collapsing block are presented in the tables and the limit supporting loads are illustrated in the form graphs that account for the surface settlement.展开更多
To investigate the effects of sudden change in wind loads on the running performance of trains on the bridge in crosswinds,a highway-railway one-story bridge was taken as the research object.Aerodynamic coefficients o...To investigate the effects of sudden change in wind loads on the running performance of trains on the bridge in crosswinds,a highway-railway one-story bridge was taken as the research object.Aerodynamic coefficients of the train and the bridge were measured in a series of train-bridge system segment models through wind tunnel tests when two trains passed each other on the bridge and when a train entered and left the wind barrier section of the bridge.Based on the improved SIMPACK and ANSYS rigid-flexible coupling simulation method,a wind-double train-track-bridge system coupled vibration model was established.The dynamic responses of the train were analyzed under the effects of sudden change in wind loads caused by two trains passing each other and a train entering and leaving the wind barrier section of the bridge.The results show that the effects of sudden wind load change caused by the trains passing each other had less effects on the running safety of the leeward-side train than the wind shielding effect caused by the windward-side train in the wind speed range of 10−25 m/s.With the decrease in the porosity of wind barriers,the effects of the sudden wind load change played an increasingly important role in the running safety and comfort of the train.With the increase in wind speed,the lateral response of the train increased obviously because of the effects of sudden wind load change,which affects both the lateral running stability and the comfort of the train.展开更多
The drum shearer and high pressure water jet combined cutting system is an effective technology to cut hard coal-rock, but one problem of the technology is the choice of pick and nozzle location parameters. In order t...The drum shearer and high pressure water jet combined cutting system is an effective technology to cut hard coal-rock, but one problem of the technology is the choice of pick and nozzle location parameters. In order to solve the problem, the process and mechanism of combined cutting arc studied and mining seepage catastrophe theory is used to construct the mathematic and physical model of combined cutting hard coal-rock. Based on the model and detailed analysis of combined cutting mechanism, the single pick and nozzle combined cutting test-bed is built to test the main pick and nozzle location parameters of drum shearer and water jet combined cutting system. Test results show that the best vertical distance between the pick-tip and nozzle center point is the sum of cutting thickness and proper target distance in the Y axial direction; the best horizontal distance is the length between pick-tip point and coal-rock surface bursting crack point in the X axial direction. The best incident angle of water jet should be the same as the bursting crack line＇s angle in theory, but considering other important factors comprehensively, it is more reasonable when the incident angle of water jet is 90°.展开更多
According to the catastrophe model for impact buckling of static loading structures, a new catastrophe model for impact loading failure of a static loading rock system was established, and one dimension (1D) catastrop...According to the catastrophe model for impact buckling of static loading structures, a new catastrophe model for impact loading failure of a static loading rock system was established, and one dimension (1D) catastrophe model was analyzed. The analysis results indicate that the furcation collection where catastrophe may take place is not only decided by mechanical system itself but also relates to exterior loading, which is different from the results obtained under mono-static loading where the bifurcation collection is only determined by mechanics of the system itself and has nothing to do with exterior loading. In addition, the corresponding 1D coupled static-dynamic loading experiment is designed to verify the analysis results of catastrophe model. The test is done with Instron 1342 electro-servo controlled testing system, in which medium strain rate is caused by monotony rising dynamic load. The parameters are obtained combining theoretical model with experiment. The experimental and theoretical curves of critical dynamic load vs static load are rather coincided, thus the new model is proved to be correct.展开更多
Combining the clonal selection mechanism of the immune system with the evolution equations of particle swarm optimization, an advanced algorithm was introduced for functions optimization. The advantages of this algori...Combining the clonal selection mechanism of the immune system with the evolution equations of particle swarm optimization, an advanced algorithm was introduced for functions optimization. The advantages of this algorithm lies in two aspects. Via immunity operation, the diversity of the antibodies was maintained, and the speed of convergent was improved by using particle swarm evolution equations. Simulation programme and three functions were used to check the effect of the algorithm. The advanced algorithm were compared with clonal selection algorithm and particle swarm algorithm. The results show that this advanced algorithm can converge to the global optimum at a great rate in a given range, the performance of optimization is improved effectively.展开更多
Mixed microorganisms with elevated activity of chalcocite-leaching were screened by mutation methods. The original microorganisms collected from acid mine drainage of different sites were mixed and then treated with m...Mixed microorganisms with elevated activity of chalcocite-leaching were screened by mutation methods. The original microorganisms collected from acid mine drainage of different sites were mixed and then treated with mutagens NO2^- , diethyl sulfate （DES）, UV and their combinations, respectively. Five groups of mixed microorganisms with much stronger ore-leaching ability were obtained by screening on the leaching media. Among them, group E of mixed microorganisms （treated with 1% DES for 60 min） with the best perfonnance on chalcocite-leaching, increases the content of Cu^2＋ by 101.4% in 20 d of leaching compared with the control culture. In addition, group E is more tolerant to Cu^2＋ in media than the control without mutation treatment. Analysis for the diversity of microbial clones indicates that half of operational taxonomic units （OTUs） in group E are Acidithiobacillus ferrooxidans. These observations suggest that group E might have potentials for industrial application.展开更多
A brief review of the former studies on the mechanisms of soil rheology and microstructure is presented. Then a microstructure model and a set of rheological constitutive relations for sott clays, which describe how t...A brief review of the former studies on the mechanisms of soil rheology and microstructure is presented. Then a microstructure model and a set of rheological constitutive relations for sott clays, which describe how the rheological consolidation settlement develops, are established in the framework of the catastrophe theory. The validity of this model is verified by a series of rheological consolidation experiments with different loading rates. The experimental data show that creep deformation can be clearly observed in these tests, and the consolidation settlement is loading rate dependent. The characteristics of the deformation can be explained and reproduced successfully using the model. It can be concluded that only the biggest set of voids would collapse for one load increment. Parameters in the model, k and η, are gained by curve fitting. With only two free parameters, good fits of the data are achieved.展开更多
基金supported by the National Natural Science Foundation(81971696)the Natural Science Foundation of Hunan Province(2022JJ30861),China.
文摘Methylenetetrahydrofolate reductase(MTHFR)deficiency is a rare autosomal recessive genetic disorder caused by mutations in the MTHFR gene,leading to a variety of clinical manifestations.In October 2022,the Second Xiangya Hospital of Central South University admitted a 21-year-old male patient with neuropsychiatric disorders,presenting primarily with cognitive decline,limb tremors,abnormal mental and behavioral symptoms,seizures,and gait disturbances.These symptoms had gradually developed over 5 years,worsening significantly in the past year.The patient’s plasma homocysteine levels were 10 times higher than normal,and brain MRI revealed brain atrophy and significant abnormal signals in the bilateral paraventricular nuclei and heads of the bilateral caudate nuclei.Further genetic testing identified a paternal mutation c.1604G>A(p.R535Q)and a maternal mutation c.227T>G(p.L76R)of the MTHFR gene.After betaine supplementation,the plasma homocysteine levels decreased within a week,and the symptoms improved.The patient was ultimately diagnosed with severe hyperhomocysteinemia due to MTHFR deficiency.The c.227T>G(p.L76R)mutation represents a novel missense mutation in the MTHFR gene associated with MTHFR deficiency,but further research is needed to confirm its potential pathogenicity.Early treatment with betaine can fully reverse the symptoms.
基金Project(2013CB036004)supported by the National Basic Research Program of ChinaProject(51378510)supported by the National Natural Science Foundation of China
文摘Based on the tunnel shape, span and depth, the previous elliptical plate model and clamped beam model were modified.The modified model was applied to different situations. For the elliptical plate model, the water effects were considered. For the clamped beam model, water and horizontal stress were considered. Corresponding potential functions and cusp catastrophe models of rock system were established based on the catastrophe theory. The expressions of critical safety thickness were derived with necessary and sufficient conditions. The method was applied to the practical engineering. Some parameters related to the stability were discussed. The results show that elastic modulus and thickness are advantageous to the floor stability, and that the load, span,horizontal stress and water are disadvantageous to the floor stability.
基金Project(51378510)supported by National Natural Science Foundation of China。
文摘This paper presents a risk evaluation model of water and mud inrush for tunnel excavation in karst areas.The factors affecting the probabilities of water and mud inrush in karst tunnels are investigated to define the dangerousness of this geological disaster.The losses that are caused by water and mud inrush are taken into consideration to account for its harmfulness.Then a risk evaluation model based on the dangerousness-harmfulness evaluation indicator system is constructed,which is more convincing in comparison with the traditional methods.The catastrophe theory is used to evaluate the risk level of water and mud inrush and it has great advantage in handling problems involving discontinuous catastrophe processes.To validate the proposed approach,the Qiyueshan tunnel of Yichang-Wanzhou Railway is taken as an example in which four target segments are evaluated using the risk evaluation model.Finally,the evaluation results are compared with the excavation data,which shows that the risk levels predicted by the proposed approach are in good agreements with that observed in engineering.In conclusion,the catastrophe theory-based risk evaluation model is an efficient and effective approach for water and mud inrush in karst tunnels.
文摘To explore the influence of karst cavity pressure on the failure mechanisms of rock layers above water-filled caves, novel blow-out and collapse mechanisms are put forward in this study. The proposed method uses the nonlinear optimization to obtain the failure profiles of surrounding layered rock with water-filled cave at the bottom of the tunnel. By referring to the functional catastrophe theory, stability analysis with different properties in different rock layers is implemented with considering the incorporation of seepage forces since the groundwater cannot be ignored in the catastrophe analysis of deep tunnel bottom. Also the parametric analysis is implemented to discuss the influences of different rock strength factors on the failure profiles. In order to offer a good guide of design for the excavation of deep tunnels above the water-filled caves, the proposed method is applied to design of the minimum effective height for rock layer. The results obtained by this work agree well with the existing published ones.
基金Project(2017zzts157)supported by the Innovation Foundation for Postgraduate of Central South University,China
文摘Limit analysis of the stability of geomechanical projects is one of the most difficult problems.This work investigates the influences of different parameters in NL failure strength on possible collapsing block shapes of single and twin shallow tunnels with considering the effects of surface settlement.Upper bound solutions derived by functional catastrophe theory are used for describing the distinct characteristics of falling blocks of different parts in twin tunnels.Furthermore the analytical solutions of minimum supporting pressures in shallow tunnels are obtained by the help of the variational principle.Lastly,the comparisons are made both in collapsed mechanism and stability factor with different methods.According to the numerical results in this work,the influences of different parameters on the size of collapsing block are presented in the tables and the limit supporting loads are illustrated in the form graphs that account for the surface settlement.
基金Projects(51822803,51878080,51778073) supported by the National Natural Science Foundation of ChinaProjects(2020JJ3035,2018JJ3538) supported by the Hunan Provincial Natural Science Foundation of China。
文摘To investigate the effects of sudden change in wind loads on the running performance of trains on the bridge in crosswinds,a highway-railway one-story bridge was taken as the research object.Aerodynamic coefficients of the train and the bridge were measured in a series of train-bridge system segment models through wind tunnel tests when two trains passed each other on the bridge and when a train entered and left the wind barrier section of the bridge.Based on the improved SIMPACK and ANSYS rigid-flexible coupling simulation method,a wind-double train-track-bridge system coupled vibration model was established.The dynamic responses of the train were analyzed under the effects of sudden change in wind loads caused by two trains passing each other and a train entering and leaving the wind barrier section of the bridge.The results show that the effects of sudden wind load change caused by the trains passing each other had less effects on the running safety of the leeward-side train than the wind shielding effect caused by the windward-side train in the wind speed range of 10−25 m/s.With the decrease in the porosity of wind barriers,the effects of the sudden wind load change played an increasingly important role in the running safety and comfort of the train.With the increase in wind speed,the lateral response of the train increased obviously because of the effects of sudden wind load change,which affects both the lateral running stability and the comfort of the train.
基金Project(2012AA062104) supported by the National High Technology Research and Development Program of ChinaProject(201104583) supported by the Postdoctoral Special Funded Projects,China
文摘The drum shearer and high pressure water jet combined cutting system is an effective technology to cut hard coal-rock, but one problem of the technology is the choice of pick and nozzle location parameters. In order to solve the problem, the process and mechanism of combined cutting arc studied and mining seepage catastrophe theory is used to construct the mathematic and physical model of combined cutting hard coal-rock. Based on the model and detailed analysis of combined cutting mechanism, the single pick and nozzle combined cutting test-bed is built to test the main pick and nozzle location parameters of drum shearer and water jet combined cutting system. Test results show that the best vertical distance between the pick-tip and nozzle center point is the sum of cutting thickness and proper target distance in the Y axial direction; the best horizontal distance is the length between pick-tip point and coal-rock surface bursting crack point in the X axial direction. The best incident angle of water jet should be the same as the bursting crack line＇s angle in theory, but considering other important factors comprehensively, it is more reasonable when the incident angle of water jet is 90°.
基金Project(50490272 ,50490274 ,10472134) supported by the Natural Science Foundation of China project(2005038250)supported by the China Postdoctoral Foundation
文摘According to the catastrophe model for impact buckling of static loading structures, a new catastrophe model for impact loading failure of a static loading rock system was established, and one dimension (1D) catastrophe model was analyzed. The analysis results indicate that the furcation collection where catastrophe may take place is not only decided by mechanical system itself but also relates to exterior loading, which is different from the results obtained under mono-static loading where the bifurcation collection is only determined by mechanics of the system itself and has nothing to do with exterior loading. In addition, the corresponding 1D coupled static-dynamic loading experiment is designed to verify the analysis results of catastrophe model. The test is done with Instron 1342 electro-servo controlled testing system, in which medium strain rate is caused by monotony rising dynamic load. The parameters are obtained combining theoretical model with experiment. The experimental and theoretical curves of critical dynamic load vs static load are rather coincided, thus the new model is proved to be correct.
基金Project(A1420060159) supported by the National Basic Research of China projects(60234030, 60404021) supported by the National Natural Science Foundation of China
文摘Combining the clonal selection mechanism of the immune system with the evolution equations of particle swarm optimization, an advanced algorithm was introduced for functions optimization. The advantages of this algorithm lies in two aspects. Via immunity operation, the diversity of the antibodies was maintained, and the speed of convergent was improved by using particle swarm evolution equations. Simulation programme and three functions were used to check the effect of the algorithm. The advanced algorithm were compared with clonal selection algorithm and particle swarm algorithm. The results show that this advanced algorithm can converge to the global optimum at a great rate in a given range, the performance of optimization is improved effectively.
基金Project(50321402)supported by the National Natural Science Foundation of ChinaProject(2004CB619201)supported by the Major State Basic Research and Development Program of China
文摘Mixed microorganisms with elevated activity of chalcocite-leaching were screened by mutation methods. The original microorganisms collected from acid mine drainage of different sites were mixed and then treated with mutagens NO2^- , diethyl sulfate （DES）, UV and their combinations, respectively. Five groups of mixed microorganisms with much stronger ore-leaching ability were obtained by screening on the leaching media. Among them, group E of mixed microorganisms （treated with 1% DES for 60 min） with the best perfonnance on chalcocite-leaching, increases the content of Cu^2＋ by 101.4% in 20 d of leaching compared with the control culture. In addition, group E is more tolerant to Cu^2＋ in media than the control without mutation treatment. Analysis for the diversity of microbial clones indicates that half of operational taxonomic units （OTUs） in group E are Acidithiobacillus ferrooxidans. These observations suggest that group E might have potentials for industrial application.
基金Project(51079126) supported by the National Natural Science Foundation of ChinaProject(Y1090971) supported by the Natural Science Foundation of Zhejiang Province, China
文摘A brief review of the former studies on the mechanisms of soil rheology and microstructure is presented. Then a microstructure model and a set of rheological constitutive relations for sott clays, which describe how the rheological consolidation settlement develops, are established in the framework of the catastrophe theory. The validity of this model is verified by a series of rheological consolidation experiments with different loading rates. The experimental data show that creep deformation can be clearly observed in these tests, and the consolidation settlement is loading rate dependent. The characteristics of the deformation can be explained and reproduced successfully using the model. It can be concluded that only the biggest set of voids would collapse for one load increment. Parameters in the model, k and η, are gained by curve fitting. With only two free parameters, good fits of the data are achieved.
