目的:总结MAB21L2基因的变异和临床特点,并与高度同源的MAB21L1基因进行比较。方法:对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析,回顾性分析既往文献报道的MAB21L2基因和高度同源基因MAB21L1变异的表型-基...目的:总结MAB21L2基因的变异和临床特点,并与高度同源的MAB21L1基因进行比较。方法:对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析,回顾性分析既往文献报道的MAB21L2基因和高度同源基因MAB21L1变异的表型-基因型的关系。结果:在2个小眼畸形家系中发现2个MAB21L2基因杂合变异:先证者1携带已知变异c.151C>G/p.(Arg51Gly),患者双眼小眼畸形伴虹膜脉络膜缺损,伴骨关节屈曲。母亲携带相同杂合变异但表型正常;先证者2携带未报道的变异c.1042G>T/p.(Glu348*),左眼小眼畸形,右眼正常且无全身异常。结合文献回顾发现,在显性遗传模式下,80%的MAB21L2杂合致病变异(20/25)和100%的MAB21L1杂合致病变异(25/25)发生在氨基酸49-52区域,导致小眼无眼或眼缺损异常(microphthalmia,anophthalmia or coloboma,MAC);携带该区域MAB21L2基因杂合突变的患者除MAC外,部分还伴骨骼关节发育异常(12/24,50%);杂合截短变异发生在MAB21L2基因可导致MAC(5/5,100%),而发生在MAB21L1则不致病。结论:在2个小眼畸形家系中发现了MAB21L2基因1个新致病变异和1个已知热点致病变异,通过文献综述比较和总结了MAB21L1和MAB21L2基因的突变频谱以及基因型-表型相互关系,为此类基因缺陷导致遗传病的诊断和鉴别诊断提供依据。展开更多
The long-range periodically ordered atomic structures in intermetallic nanoparticles(INPs)can significantly enhance both the electrocatalytic activity and electrochemical stability toward the oxygen reduction reaction...The long-range periodically ordered atomic structures in intermetallic nanoparticles(INPs)can significantly enhance both the electrocatalytic activity and electrochemical stability toward the oxygen reduction reaction(ORR)compared to the disordered atomic structures in ordinary solid-solution alloy NPs.Accordingly,through a facile and scalable synthetic method,a series of carbon-supported ultrafine Pt_3Co_(x)Mn_(1-x)ternary INPs are prepared in this work,which possess the"skin-like"ultrathin Pt shells,the ordered L1_(2) atomic structure,and the high-even dispersion on supports(L1_(2)-Pt_3Co_(x)Mn_(1-x)/~SPt INPs/C).Electrochemical results present that the composition-optimized L1_(2)-Pt_3Co_(0.7)Mn_(0.3)/~SPt INPs/C exhibits the highest electrocata lytic activity among the series,which are also much better than those of the pristine ultrafine Pt/C.Besides,it also has a greatly enhanced electrochemical stability.In addition,the effects of annealing temperature and time are further investigated.More importantly,such superior ORR electrocatalytic performance of L1_(2)-Pt_3Co_(0.7)Mn_(0.3)/~SPt INPs/C are also well demonstrated in practical fuel cells.Physicochemical characterization analyses further reveal the major origins of the greatly enhanced ORR electrocata lytic performance:the Pt-Co-Mn alloy-induced geometric and ligand effects as well as the extremely high L1_(2) atomic-ordering degree.This work not only successfully develops a highly active and stable ordered ternary intermetallic ORR electrocatalyst,but also elucidates the corresponding"structure-function"relationship,which can be further applied in designing other intermetallic(electro)catalysts.展开更多
Background: Omicron JN.1 has become the dominant SARS-CoV-2 variant in recent months. JN.1 has the highest number of amino acid mutations in its receptor binding domain (RBD) and has acquired a hallmark L455S mutation...Background: Omicron JN.1 has become the dominant SARS-CoV-2 variant in recent months. JN.1 has the highest number of amino acid mutations in its receptor binding domain (RBD) and has acquired a hallmark L455S mutation. The immune evasion capability of JN.1 is a subject of scientific investigation. The US CDC used SGTF of TaqPath COVID-19 Combo Kit RT-qPCR as proxy indicator of JN.1 infections for evaluation of the effectiveness of updated monovalent XBB.1.5 COVID-19 vaccines against JN.1 and recommended that all persons aged ≥ 6 months should receive an updated COVID-19 vaccine dose. Objective: Recommend Sanger sequencing instead of proxy indicator to diagnose JN.1 infections to generate the data based on which guidelines are made to direct vaccination policies. Methods: The RNA in nasopharyngeal swab specimens from patients with clinical respiratory infection was subjected to nested RT-PCR, targeting a 398-base segment of the N-gene and a 445-base segment of the RBD of SARS-CoV-2 for amplification. The nested PCR amplicons were sequenced. The DNA sequences were analyzed for amino acid mutations. Results: The N-gene sequence showed R203K, G204R and Q229K, the 3 mutations associated with Omicron BA.2.86 (+JN.1). The RBD sequence showed 24 of the 26 known amino acid mutations, including the hallmark L455S mutation for JN.1 and the V483del for BA.2.86 lineage. Conclusions: Sanger sequencing of a 445-base segment of the SARS-CoV-2 RBD is useful for accurate determination of emerging variants. The CDC may consider using Sanger sequencing of the RBD to diagnose JN.1 infections for statistical analysis in making vaccination policies.展开更多
Situs inversus totalis(SIT)is a rare homozygous recessive disease caused by the mutation in PKD1L1,which is required for normal interaction with PKD2 and leads to different complications such as respiratory disorders,...Situs inversus totalis(SIT)is a rare homozygous recessive disease caused by the mutation in PKD1L1,which is required for normal interaction with PKD2 and leads to different complications such as respiratory disorders,brain disorders and even obesity.The present study was designed to find out the mutational effect on the binding of PKD2 with mutated PKD1L1,which leads to SIT.The three-dimensional(3D)structure of wild type and mutated PKD1L1 was predicted with>90%confidence using different online tools.The different online tools that were employed were SWISS-MODEL,Phyre2(normal&intensive)and i-TASSER.To compute the physiochemical properties of PKD1L1(wild&mutated)and PKD2 in silico approaches were employed using the ExPASy ProtParam tool.Physicochemical properties such as molecular weight,isoelectric point,the total number of negatively and positively charged residues,extinction coefficient,half-life,instability and aliphatic index,grand average of hydropathicity,and amino acid percentage were calculated.A lot of variability was observed in these parameters among PKD1L1 and PKD2,which accounted for diversification in their functional properties.The theoretical pI points showed that PKD1L1(whole)is more basic with 6.64 pI compared to its first chain TOPO_DOM(amino acids from 1–1748)has a pI of 5.62 which means it is basic while PKD2 have the lowest pI point of 5.34.Docking was performed using the PatchDock and ClusPro online tools.展开更多
Based on exact penalty function, a new neural network for solving the L1-norm optimization problem is proposed. In comparison with Kennedy and Chua’s network(1988), it has better properties.Based on Bandler’s fault ...Based on exact penalty function, a new neural network for solving the L1-norm optimization problem is proposed. In comparison with Kennedy and Chua’s network(1988), it has better properties.Based on Bandler’s fault location method(1982), a new nonlinearly constrained L1-norm problem is developed. It can be solved with less computing time through only one optimization processing. The proposed neural network can be used to solve the analog diagnosis L1 problem. The validity of the proposed neural networks and the fault location L1 method are illustrated by extensive computer simulations.展开更多
Greater attention has been paid to vintage-merge processing of seismic data and extracting more valuable information by the geophysicist. A match filter is used within many important areas such as splicing seismic dat...Greater attention has been paid to vintage-merge processing of seismic data and extracting more valuable information by the geophysicist. A match filter is used within many important areas such as splicing seismic data, matching seismic data with different ages and sources, 4-D seismic monitoring, and so on. The traditional match filtering method is subject to many restrictions and is usually difficult to overcome the impact of noise. Based on the traditional match filter, we propose the wavelet domain L1 norm optimal matching filter. In this paper, two different types of seismic data are decomposed to the wavelet domain, different detailed effective information is extracted for Ll-norm optimal matching, and ideal results are achieved. Based on the model test, we find that the L1 norm optimal matching filter attenuates the noise and the waveform, amplitude, and phase coherence of result signals are better than the conventional method. The field data test shows that, with our method, the seismic events in the filter results have better continuity which achieves the high precision seismic match requirements.展开更多
The mixed l1/H2 optimization problem for MIMO (multiple input-multiple output) discrete-time systems is considered. This problem is formulated as minimizing the l1-norm of a closed-loop transfer matrix while maintaini...The mixed l1/H2 optimization problem for MIMO (multiple input-multiple output) discrete-time systems is considered. This problem is formulated as minimizing the l1-norm of a closed-loop transfer matrix while maintaining the H2-norm of another closed-loop transfer matrix at prescribed level. The continuity property of the optimal value in respect to changes in the H2-norm constraint is studied. The existence of the optimal solutions of mixed l1/H2 problem is proved. Because the solution of the mixed l1/H2 problem is based on the scaled-Q method, it avoids the zero interpolation difficulties. The convergent upper and lower bounds can be obtained by solving a sequence of finite dimensional nonlinear programming for which many efficient numerical optimization algorithms exist.展开更多
文摘目的:总结MAB21L2基因的变异和临床特点,并与高度同源的MAB21L1基因进行比较。方法:对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析,回顾性分析既往文献报道的MAB21L2基因和高度同源基因MAB21L1变异的表型-基因型的关系。结果:在2个小眼畸形家系中发现2个MAB21L2基因杂合变异:先证者1携带已知变异c.151C>G/p.(Arg51Gly),患者双眼小眼畸形伴虹膜脉络膜缺损,伴骨关节屈曲。母亲携带相同杂合变异但表型正常;先证者2携带未报道的变异c.1042G>T/p.(Glu348*),左眼小眼畸形,右眼正常且无全身异常。结合文献回顾发现,在显性遗传模式下,80%的MAB21L2杂合致病变异(20/25)和100%的MAB21L1杂合致病变异(25/25)发生在氨基酸49-52区域,导致小眼无眼或眼缺损异常(microphthalmia,anophthalmia or coloboma,MAC);携带该区域MAB21L2基因杂合突变的患者除MAC外,部分还伴骨骼关节发育异常(12/24,50%);杂合截短变异发生在MAB21L2基因可导致MAC(5/5,100%),而发生在MAB21L1则不致病。结论:在2个小眼畸形家系中发现了MAB21L2基因1个新致病变异和1个已知热点致病变异,通过文献综述比较和总结了MAB21L1和MAB21L2基因的突变频谱以及基因型-表型相互关系,为此类基因缺陷导致遗传病的诊断和鉴别诊断提供依据。
基金supported by the National Key Research and Development Program of China(2021YFB4001301)the Science and Technology Commission of Shanghai Municipality(21DZ1208600)the Oceanic Interdisciplinary Program of Shanghai Jiao Tong University(SL2021ZD105)。
文摘The long-range periodically ordered atomic structures in intermetallic nanoparticles(INPs)can significantly enhance both the electrocatalytic activity and electrochemical stability toward the oxygen reduction reaction(ORR)compared to the disordered atomic structures in ordinary solid-solution alloy NPs.Accordingly,through a facile and scalable synthetic method,a series of carbon-supported ultrafine Pt_3Co_(x)Mn_(1-x)ternary INPs are prepared in this work,which possess the"skin-like"ultrathin Pt shells,the ordered L1_(2) atomic structure,and the high-even dispersion on supports(L1_(2)-Pt_3Co_(x)Mn_(1-x)/~SPt INPs/C).Electrochemical results present that the composition-optimized L1_(2)-Pt_3Co_(0.7)Mn_(0.3)/~SPt INPs/C exhibits the highest electrocata lytic activity among the series,which are also much better than those of the pristine ultrafine Pt/C.Besides,it also has a greatly enhanced electrochemical stability.In addition,the effects of annealing temperature and time are further investigated.More importantly,such superior ORR electrocatalytic performance of L1_(2)-Pt_3Co_(0.7)Mn_(0.3)/~SPt INPs/C are also well demonstrated in practical fuel cells.Physicochemical characterization analyses further reveal the major origins of the greatly enhanced ORR electrocata lytic performance:the Pt-Co-Mn alloy-induced geometric and ligand effects as well as the extremely high L1_(2) atomic-ordering degree.This work not only successfully develops a highly active and stable ordered ternary intermetallic ORR electrocatalyst,but also elucidates the corresponding"structure-function"relationship,which can be further applied in designing other intermetallic(electro)catalysts.
文摘Background: Omicron JN.1 has become the dominant SARS-CoV-2 variant in recent months. JN.1 has the highest number of amino acid mutations in its receptor binding domain (RBD) and has acquired a hallmark L455S mutation. The immune evasion capability of JN.1 is a subject of scientific investigation. The US CDC used SGTF of TaqPath COVID-19 Combo Kit RT-qPCR as proxy indicator of JN.1 infections for evaluation of the effectiveness of updated monovalent XBB.1.5 COVID-19 vaccines against JN.1 and recommended that all persons aged ≥ 6 months should receive an updated COVID-19 vaccine dose. Objective: Recommend Sanger sequencing instead of proxy indicator to diagnose JN.1 infections to generate the data based on which guidelines are made to direct vaccination policies. Methods: The RNA in nasopharyngeal swab specimens from patients with clinical respiratory infection was subjected to nested RT-PCR, targeting a 398-base segment of the N-gene and a 445-base segment of the RBD of SARS-CoV-2 for amplification. The nested PCR amplicons were sequenced. The DNA sequences were analyzed for amino acid mutations. Results: The N-gene sequence showed R203K, G204R and Q229K, the 3 mutations associated with Omicron BA.2.86 (+JN.1). The RBD sequence showed 24 of the 26 known amino acid mutations, including the hallmark L455S mutation for JN.1 and the V483del for BA.2.86 lineage. Conclusions: Sanger sequencing of a 445-base segment of the SARS-CoV-2 RBD is useful for accurate determination of emerging variants. The CDC may consider using Sanger sequencing of the RBD to diagnose JN.1 infections for statistical analysis in making vaccination policies.
文摘Situs inversus totalis(SIT)is a rare homozygous recessive disease caused by the mutation in PKD1L1,which is required for normal interaction with PKD2 and leads to different complications such as respiratory disorders,brain disorders and even obesity.The present study was designed to find out the mutational effect on the binding of PKD2 with mutated PKD1L1,which leads to SIT.The three-dimensional(3D)structure of wild type and mutated PKD1L1 was predicted with>90%confidence using different online tools.The different online tools that were employed were SWISS-MODEL,Phyre2(normal&intensive)and i-TASSER.To compute the physiochemical properties of PKD1L1(wild&mutated)and PKD2 in silico approaches were employed using the ExPASy ProtParam tool.Physicochemical properties such as molecular weight,isoelectric point,the total number of negatively and positively charged residues,extinction coefficient,half-life,instability and aliphatic index,grand average of hydropathicity,and amino acid percentage were calculated.A lot of variability was observed in these parameters among PKD1L1 and PKD2,which accounted for diversification in their functional properties.The theoretical pI points showed that PKD1L1(whole)is more basic with 6.64 pI compared to its first chain TOPO_DOM(amino acids from 1–1748)has a pI of 5.62 which means it is basic while PKD2 have the lowest pI point of 5.34.Docking was performed using the PatchDock and ClusPro online tools.
基金Supported by Doctoral Special Fund of State Education Commissionthe National Natural Science Foundation of China,Grant No.59477001 and No.59707002
文摘Based on exact penalty function, a new neural network for solving the L1-norm optimization problem is proposed. In comparison with Kennedy and Chua’s network(1988), it has better properties.Based on Bandler’s fault location method(1982), a new nonlinearly constrained L1-norm problem is developed. It can be solved with less computing time through only one optimization processing. The proposed neural network can be used to solve the analog diagnosis L1 problem. The validity of the proposed neural networks and the fault location L1 method are illustrated by extensive computer simulations.
基金sponsored by the Natural Science Foundation of China(No.41074075)Graduate Innovation Fund by Jilin University(No.20121070)
文摘Greater attention has been paid to vintage-merge processing of seismic data and extracting more valuable information by the geophysicist. A match filter is used within many important areas such as splicing seismic data, matching seismic data with different ages and sources, 4-D seismic monitoring, and so on. The traditional match filtering method is subject to many restrictions and is usually difficult to overcome the impact of noise. Based on the traditional match filter, we propose the wavelet domain L1 norm optimal matching filter. In this paper, two different types of seismic data are decomposed to the wavelet domain, different detailed effective information is extracted for Ll-norm optimal matching, and ideal results are achieved. Based on the model test, we find that the L1 norm optimal matching filter attenuates the noise and the waveform, amplitude, and phase coherence of result signals are better than the conventional method. The field data test shows that, with our method, the seismic events in the filter results have better continuity which achieves the high precision seismic match requirements.
基金This project was supported by the National Nature Science Foundation of China (60374009)Nature Science Foundation of Guangdong Province of China (990795).
文摘The mixed l1/H2 optimization problem for MIMO (multiple input-multiple output) discrete-time systems is considered. This problem is formulated as minimizing the l1-norm of a closed-loop transfer matrix while maintaining the H2-norm of another closed-loop transfer matrix at prescribed level. The continuity property of the optimal value in respect to changes in the H2-norm constraint is studied. The existence of the optimal solutions of mixed l1/H2 problem is proved. Because the solution of the mixed l1/H2 problem is based on the scaled-Q method, it avoids the zero interpolation difficulties. The convergent upper and lower bounds can be obtained by solving a sequence of finite dimensional nonlinear programming for which many efficient numerical optimization algorithms exist.
