Recently developed ‘super’ rice cultivars with greater yield potentials often suffer from the problem of poor grain filling, especially in inferior spikelets. Here, we studied the activities of enzymes related to st...Recently developed ‘super’ rice cultivars with greater yield potentials often suffer from the problem of poor grain filling, especially in inferior spikelets. Here, we studied the activities of enzymes related to starch metabolism in rice stems and grains, and the microstructures related to carbohydrate accumulation and transportation to investigate the effects of different water regimes on grain filling. Two ‘super’ rice cultivars were grown under two irrigation regimes of well-watered(WW) and alternate wetting and moderate soil drying(AWMD). Compared with the WW treatment,the activities of ADP glucose pyrophosphorylase(AGPase), starch synthase(StSase) and starch branching enzyme(SBE), and the accumulation of non-structural carbohydrates(NSCs) in the stems before heading were significantly improved, and more starch granules were stored in the stems in the AWMD treatment. After heading, the activities of α-amylase, β-amylase, sucrose phosphate synthase(SPS) and sucrose synthase in the synthetic direction(SSs)were increased in the stems to promote the remobilization of NSCs for grain filling under AWMD. During grain filling, the enzymatic activities of sucrose synthase in the cleavage direction(SSc), AGPase, StSase and SBE in the inferior spikelets were increased, which promoted grain filling, especially for the inferior spikelets under AWMD.However, there were no significant differences in vascular microstructures. The grain yield and grain weight could be improved by 13.1 and 7.5%, respectively, by optimizing of the irrigation regime. We concluded that the low activities of key enzymes in carbon metabolism is the key limitation for the poor grain filling, as opposed to the vascular microstructures, and AWMD can increase the amount of NSC accumulation in the stems before heading, improve the utilization rate of NSCs after heading, and increase the grain filling, especially in the inferior spikelets, by altering the activities of key enzymes in carbon metabolism.展开更多
Methods: Sixteen patients with American Society of Anesthesiologists status (ASA) II-III, age ≤ 70 yr, male or female, preoperatively NYHA II-III and EF ≥ 45%, scheduled for mitral valve replacement (MVR) were studi...Methods: Sixteen patients with American Society of Anesthesiologists status (ASA) II-III, age ≤ 70 yr, male or female, preoperatively NYHA II-III and EF ≥ 45%, scheduled for mitral valve replacement (MVR) were studied. Complete intravenous general anesthesia was used for induction and anesthesia maintenance. After anesthesia induction we put the TEE probe into the esophagus. The cardiac index was determined at three periods following MVR: T1 30 minutes later following cessation of bypass, T2 60 minutes after cessation of bypass, T3 90 minutes after cessation of bypass. Statistical analysis was made with the Bland and Altman method. Results: Ninety-six measurements were compared. The cardiac index values at the level of prosthesis mitral valve (CIMV) ranged from 1.3 to 5.5 L·min-1·m-2 (mean 2.6 ± 0.9). The Values of cardiac index at aortic valve (CIAA) ranged from 2.7 to8.8 L·min-1·m-2 (mean 4.9 ± 1.7). Bias was -2.3 L·min-1·m-2 and limits of agreement -5.6 to 1.0 L·min-1·m-2. Conclusion: During mitral valve replacement, doubtful correlations were observed between values of cardiac index at the mitral valve and the ascending aorta using TEE.展开更多
Developing electrocatalysts that exhibit both high activity and ammonia selectivity for nitrate reduction is a significant and demanding challenge,primarily due to the complex nature of the multiple-electron reduction...Developing electrocatalysts that exhibit both high activity and ammonia selectivity for nitrate reduction is a significant and demanding challenge,primarily due to the complex nature of the multiple-electron reduction process involved.An encouraging approach involves coupling highly active precious metals with transition metals to enhance catalytic performance through synergy.Here,we report a ruthenium-nickel alloy catalyst with nanosheets(Ru-Ni NSs)structure that achieves a remarkable ammonia Faradaic efficiency of approximately 95.93%,alongside a yield rate of up to 6.11 g·h^(−1)·cm^(−2).Moreover,the prepared Ru-Ni NSs exhibit exceptional stability during continuous nitrate reduction in a flow reactor for 100 h,maintaining a Faradaic efficiency of approximately 90%and an ammonia yield of 37.4 mg·L^(−1)·h^(−1)using 0.05 M nitrate alkaline electrolyte.Mechanistic studies reveal that the catalytic process follows a two-step pathway,in which HONO serves as a migration intermediate.The presence of a partially oxidized Ru(002)surface enhances the adsorption of nitrate and facilitates the release of the migration intermediate by adjusting the strength of the electrostatic and covalent interactions between the adsorbate and the surface,respectively.On the other hand,the Ni(111)surface promotes the utilization of the migration intermediate and requires less energy for NH_(3)desorption.This tandem process contributes to a high catalytic activity of Ru-Ni NSs towards nitrate reduction.展开更多
Introduction:Coxsackievirus A6(CVA6)has emerged as a significant pathogen responsible for severe cases of hand,foot,and mouth disease(HFMD).This study aims to delineate the demographic characteristics and analyze the ...Introduction:Coxsackievirus A6(CVA6)has emerged as a significant pathogen responsible for severe cases of hand,foot,and mouth disease(HFMD).This study aims to delineate the demographic characteristics and analyze the viral evolution of severe HFMD associated with CVA6,thereby assisting in its surveillance and management.Methods:In this investigation,74 strains of CVA6 were isolated from samples collected from severe HFMD cases between 2012 and 2023.The VP1 gene sequences of CVA6 were amplified and analyzed to assess population historical dynamics and evolutionary characteristics using BEAST,DnaSP6,and PopART.Results:A significant portion(94.4%)of severe CVA6-associated HFMD cases(51 out of 54,with 20 lacking age information)were children under 5 years old.Among the 74 CVA6 strains analyzed,72 belonged to the D3a sub-genotype,while only two strains were D2 sub-genotype.The average genetic distance between VP1 sequences prior to 2015 was 0.027,which increased to 0.051 when compared to sequences post-2015.Historical population dynamics analysis indicated three significant population expansions of severe CVA6-associated HFMD during 2012-2013,2013-2014,and 2019-2020,resulting in the formation of 65 distinct haplotypes.Consistent with the MCC tree findings,transitioning between regional haplotypes required multiple base substitutions,showcasing an increase in population diversity during the evolutionary process(from 14 haplotypes in 2013 to 55 haplotypes over the subsequent decade).Conclusions:CVA6,associated with severe HFMD,is evolving and presents a risk of outbreak occurrence.Thus,enhanced surveillance of severe HFMD is imperative.展开更多
Biochar can change the availability and morphology of soil Cd.However,the influence of biochar on Cd chemical form and subcellular fraction in rice is poorly understood,particularly under different irrigation methods....Biochar can change the availability and morphology of soil Cd.However,the influence of biochar on Cd chemical form and subcellular fraction in rice is poorly understood,particularly under different irrigation methods.A pot experiment of biochar application combined with two irrigation methods(continuous flooding and intermittent irrigation,CF and Ⅱ)was conducted.The Cd accumulation,chemical form and subcellular fraction in rice organs and the associated physiological responses were examined.Biochar significantly reduced soil available Cd(30.85-47.26%and 32.35-52.35%)under CF and Ⅱ but increased the Cd content(30.4-63.88%and 13.03-18.59%)in brown rice.Additionally,the Cd content in shoots/grains under Ⅱ was higher than that under CF.Biochar elevated the Cd soluble fraction in roots while lowered the cell wall fraction under both irrigation methods,whereas the opposite result was observed in leaves.Biochar increased water-,ethanol-,and NaCl-extractable Cd in roots meanwhile increased ethanol-extractable Cd in leaves under both irrigation methods.Moreover,the total amount of water-,ethanol-,and NaCl-extractable Cd in rice roots was higher under Ⅱ than under CF.Related hormones and antioxidant enzymes may also be involved in biochar-mediated Cd accumulation in rice grains.Thus,changes in Cd chemical form and subcellular fraction in the root and leaf are the main mechanisms of biochar-induced rice grains Cd accumulation.展开更多
Populus euphratica is a dominant tree species in riparian Tugai forests and forms a natural barrier that maintains the stability of local oases in arid inland river basins. Despite being critical information for local...Populus euphratica is a dominant tree species in riparian Tugai forests and forms a natural barrier that maintains the stability of local oases in arid inland river basins. Despite being critical information for local environmental protection and recovery, establishing the specific spatial distribution of P. euphratica has rarely been attempted via precise and reliable species distribution models in such areas. In this research, the potential geographic distribution of P. euphratica in the Heihe River Basin was simulated with MaxEnt software based on species occurrence data and 29 environmental variables. The result showed that in the Heihe River Basin, 820 km^2 of land primarily distributed along the banks of the lower reaches of the river is a suitable habitat for P. euphratica. We built other MaxEnt models based on different environmental variables and another eight models employing different mathematical algorithms based on the same 29 environmental variables to demonstrate the superiority of this method.MaxEnt based on 29 environmental variables performed the best among these models, as it precisely described the essential characteristics of the distribution of P. euphratica forest land. This study verified that MaxEnt can serve as an effective tool for species distribution in extremely arid regions with sufficient and reliable environmental variables. The results suggest that there may be a larger area of P. euphratica forest distribution in the study area and that ecological conservation and management of P.euphratica should prioritize suitable habitat. This research provides valuable insights for the conservation and management of degraded P. euphratica riparian forests.展开更多
Long-term trends in vegetation phenology indicate ecosystem change due to the combined impacts of human activities and climate. In this study we used 1982 to 2006 Advanced Very High Resolution Radiometer Normalized Di...Long-term trends in vegetation phenology indicate ecosystem change due to the combined impacts of human activities and climate. In this study we used 1982 to 2006 Advanced Very High Resolution Radiometer Normalized Difference Vegetation Index (AVHRR NDVI) imagery across China and the TIMESAT program to quantify annual vegetation production and its changing trend. Results showed great spatial variability in vegetation growth and its temporal trend across the country during the 25-year study period. Significant decreases in vegetation production were detected in the grasslands of Inner Mongolia, and in industrializing regions in southern China, including the Pearl River Delta, the Yangtze River Delta, and areas along the Yangtze River. Significant increases in vegetation production were found in Xinjiang, Central China, and North-east China. Validation of the NDVI trends and vegetated area changes were conducted using Landsat imagery and the results were consistent with the analysis from AVHRR data. We also found that although the causes of the vegetation change vary locally, the spatial pattern of the vegetation change and the areas of greatest impact from national policies launched in the 1970s, such as the opening of economic zones and the 'Three-North Shelter Forest Programme', are similar, which indicates an impact of national policies on ecosystem change and that such impacts can be detected using the method described in this paper.展开更多
Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recen...Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement phenotypes.Here,we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity,including developmental delay/intellectual disability,spasm,and hypertonia.Seven different pathogenic variants are identified,of which five are novel.Both fibroblasts and immortalized lymphocytes derived from patients show impaired mitochondrial respiratory function,which is also observed in HPDL-knockdown(KD)He La cells.In these He La cells,overexpression of a wild-type HPDL gene can rescue the respiratory phenotype of oxygen consumption rate.In addition,a decreased activity of the oxidative phosphorylation(OXPHOS)complex II is observed in patient-derived lymphocytes and HPDL-KD He La cells,further supporting an essential role of HPDL in the mitochondrial respiratory chain.Collectively,our data expand the clinical and mutational spectra of this mitochondrial neuropathy and further delineate the possible disease mechanism involving the impairment of the OXPHOS complex II activity due to the bi-allelic inactivations of HPDL.展开更多
Dear Editor,Berry syndrome is a rare combination of congenital cardiac malformations characterized by four abnormal features;namely,an aortopulmonary window(APW),aortic origin of the right pulmonary artery,hypoplasia ...Dear Editor,Berry syndrome is a rare combination of congenital cardiac malformations characterized by four abnormal features;namely,an aortopulmonary window(APW),aortic origin of the right pulmonary artery,hypoplasia or interruption of the aortic arch,with an intact ventricular septum.The disease was first reported by Berry in 1982,who estimated the incidence within the population with congenital cardiac malformations to be 0.046%(Berry et al.,1982).Until recently,展开更多
基金This project was finically supported by the R&D Foundation of Jiangsu Province,China(BE2022425)the National Key Research and Development Program of China(2022YFD2300304)the Priority Academic Program Development of Jiangsu Higher-Education Institutions,China(PAPD).
文摘Recently developed ‘super’ rice cultivars with greater yield potentials often suffer from the problem of poor grain filling, especially in inferior spikelets. Here, we studied the activities of enzymes related to starch metabolism in rice stems and grains, and the microstructures related to carbohydrate accumulation and transportation to investigate the effects of different water regimes on grain filling. Two ‘super’ rice cultivars were grown under two irrigation regimes of well-watered(WW) and alternate wetting and moderate soil drying(AWMD). Compared with the WW treatment,the activities of ADP glucose pyrophosphorylase(AGPase), starch synthase(StSase) and starch branching enzyme(SBE), and the accumulation of non-structural carbohydrates(NSCs) in the stems before heading were significantly improved, and more starch granules were stored in the stems in the AWMD treatment. After heading, the activities of α-amylase, β-amylase, sucrose phosphate synthase(SPS) and sucrose synthase in the synthetic direction(SSs)were increased in the stems to promote the remobilization of NSCs for grain filling under AWMD. During grain filling, the enzymatic activities of sucrose synthase in the cleavage direction(SSc), AGPase, StSase and SBE in the inferior spikelets were increased, which promoted grain filling, especially for the inferior spikelets under AWMD.However, there were no significant differences in vascular microstructures. The grain yield and grain weight could be improved by 13.1 and 7.5%, respectively, by optimizing of the irrigation regime. We concluded that the low activities of key enzymes in carbon metabolism is the key limitation for the poor grain filling, as opposed to the vascular microstructures, and AWMD can increase the amount of NSC accumulation in the stems before heading, improve the utilization rate of NSCs after heading, and increase the grain filling, especially in the inferior spikelets, by altering the activities of key enzymes in carbon metabolism.
文摘Methods: Sixteen patients with American Society of Anesthesiologists status (ASA) II-III, age ≤ 70 yr, male or female, preoperatively NYHA II-III and EF ≥ 45%, scheduled for mitral valve replacement (MVR) were studied. Complete intravenous general anesthesia was used for induction and anesthesia maintenance. After anesthesia induction we put the TEE probe into the esophagus. The cardiac index was determined at three periods following MVR: T1 30 minutes later following cessation of bypass, T2 60 minutes after cessation of bypass, T3 90 minutes after cessation of bypass. Statistical analysis was made with the Bland and Altman method. Results: Ninety-six measurements were compared. The cardiac index values at the level of prosthesis mitral valve (CIMV) ranged from 1.3 to 5.5 L·min-1·m-2 (mean 2.6 ± 0.9). The Values of cardiac index at aortic valve (CIAA) ranged from 2.7 to8.8 L·min-1·m-2 (mean 4.9 ± 1.7). Bias was -2.3 L·min-1·m-2 and limits of agreement -5.6 to 1.0 L·min-1·m-2. Conclusion: During mitral valve replacement, doubtful correlations were observed between values of cardiac index at the mitral valve and the ascending aorta using TEE.
基金the National Natural Science Foundation of China(No.22006018)the General Project of Zhejiang Provincial Department of Education(No.Y202250180)+2 种基金the key Research and Development Project of Science and Technology Department of Zhejiang Province(No.2023C02019)the National Key Research and Development Program of China(No.2022YFE0127800)the Talent Startingup Project of Research Development Fund of Zhejiang A&F University(No.2034020103).
文摘Developing electrocatalysts that exhibit both high activity and ammonia selectivity for nitrate reduction is a significant and demanding challenge,primarily due to the complex nature of the multiple-electron reduction process involved.An encouraging approach involves coupling highly active precious metals with transition metals to enhance catalytic performance through synergy.Here,we report a ruthenium-nickel alloy catalyst with nanosheets(Ru-Ni NSs)structure that achieves a remarkable ammonia Faradaic efficiency of approximately 95.93%,alongside a yield rate of up to 6.11 g·h^(−1)·cm^(−2).Moreover,the prepared Ru-Ni NSs exhibit exceptional stability during continuous nitrate reduction in a flow reactor for 100 h,maintaining a Faradaic efficiency of approximately 90%and an ammonia yield of 37.4 mg·L^(−1)·h^(−1)using 0.05 M nitrate alkaline electrolyte.Mechanistic studies reveal that the catalytic process follows a two-step pathway,in which HONO serves as a migration intermediate.The presence of a partially oxidized Ru(002)surface enhances the adsorption of nitrate and facilitates the release of the migration intermediate by adjusting the strength of the electrostatic and covalent interactions between the adsorbate and the surface,respectively.On the other hand,the Ni(111)surface promotes the utilization of the migration intermediate and requires less energy for NH_(3)desorption.This tandem process contributes to a high catalytic activity of Ru-Ni NSs towards nitrate reduction.
基金Supported by the Beijing Natural Science Foundation(L234052)the National Key Research and Development Program of China(2021YFC2302003).
文摘Introduction:Coxsackievirus A6(CVA6)has emerged as a significant pathogen responsible for severe cases of hand,foot,and mouth disease(HFMD).This study aims to delineate the demographic characteristics and analyze the viral evolution of severe HFMD associated with CVA6,thereby assisting in its surveillance and management.Methods:In this investigation,74 strains of CVA6 were isolated from samples collected from severe HFMD cases between 2012 and 2023.The VP1 gene sequences of CVA6 were amplified and analyzed to assess population historical dynamics and evolutionary characteristics using BEAST,DnaSP6,and PopART.Results:A significant portion(94.4%)of severe CVA6-associated HFMD cases(51 out of 54,with 20 lacking age information)were children under 5 years old.Among the 74 CVA6 strains analyzed,72 belonged to the D3a sub-genotype,while only two strains were D2 sub-genotype.The average genetic distance between VP1 sequences prior to 2015 was 0.027,which increased to 0.051 when compared to sequences post-2015.Historical population dynamics analysis indicated three significant population expansions of severe CVA6-associated HFMD during 2012-2013,2013-2014,and 2019-2020,resulting in the formation of 65 distinct haplotypes.Consistent with the MCC tree findings,transitioning between regional haplotypes required multiple base substitutions,showcasing an increase in population diversity during the evolutionary process(from 14 haplotypes in 2013 to 55 haplotypes over the subsequent decade).Conclusions:CVA6,associated with severe HFMD,is evolving and presents a risk of outbreak occurrence.Thus,enhanced surveillance of severe HFMD is imperative.
基金National Natural Science Foundation of China(32201889)Jiangsu Funding Program for Excellent Postdoctoral Talent(2022ZB627)+1 种基金Jiangsu Technical System of Rice Industry(JATS[2021]485)Special Funds of the Rice Industry System of Jiangxi Province(JXARS-02-03).
文摘Biochar can change the availability and morphology of soil Cd.However,the influence of biochar on Cd chemical form and subcellular fraction in rice is poorly understood,particularly under different irrigation methods.A pot experiment of biochar application combined with two irrigation methods(continuous flooding and intermittent irrigation,CF and Ⅱ)was conducted.The Cd accumulation,chemical form and subcellular fraction in rice organs and the associated physiological responses were examined.Biochar significantly reduced soil available Cd(30.85-47.26%and 32.35-52.35%)under CF and Ⅱ but increased the Cd content(30.4-63.88%and 13.03-18.59%)in brown rice.Additionally,the Cd content in shoots/grains under Ⅱ was higher than that under CF.Biochar elevated the Cd soluble fraction in roots while lowered the cell wall fraction under both irrigation methods,whereas the opposite result was observed in leaves.Biochar increased water-,ethanol-,and NaCl-extractable Cd in roots meanwhile increased ethanol-extractable Cd in leaves under both irrigation methods.Moreover,the total amount of water-,ethanol-,and NaCl-extractable Cd in rice roots was higher under Ⅱ than under CF.Related hormones and antioxidant enzymes may also be involved in biochar-mediated Cd accumulation in rice grains.Thus,changes in Cd chemical form and subcellular fraction in the root and leaf are the main mechanisms of biochar-induced rice grains Cd accumulation.
基金supported by the National Natural Science Foundation of China (Grant No. 91425303)the Strategic Priority Research Program of the Chinese Academy of Sciences (Grant No. XDA20100104)the 13th Five-year Informatization Plan of Chinese Academy of Sciences (Grant No. XXH13505-06)
文摘Populus euphratica is a dominant tree species in riparian Tugai forests and forms a natural barrier that maintains the stability of local oases in arid inland river basins. Despite being critical information for local environmental protection and recovery, establishing the specific spatial distribution of P. euphratica has rarely been attempted via precise and reliable species distribution models in such areas. In this research, the potential geographic distribution of P. euphratica in the Heihe River Basin was simulated with MaxEnt software based on species occurrence data and 29 environmental variables. The result showed that in the Heihe River Basin, 820 km^2 of land primarily distributed along the banks of the lower reaches of the river is a suitable habitat for P. euphratica. We built other MaxEnt models based on different environmental variables and another eight models employing different mathematical algorithms based on the same 29 environmental variables to demonstrate the superiority of this method.MaxEnt based on 29 environmental variables performed the best among these models, as it precisely described the essential characteristics of the distribution of P. euphratica forest land. This study verified that MaxEnt can serve as an effective tool for species distribution in extremely arid regions with sufficient and reliable environmental variables. The results suggest that there may be a larger area of P. euphratica forest distribution in the study area and that ecological conservation and management of P.euphratica should prioritize suitable habitat. This research provides valuable insights for the conservation and management of degraded P. euphratica riparian forests.
文摘Long-term trends in vegetation phenology indicate ecosystem change due to the combined impacts of human activities and climate. In this study we used 1982 to 2006 Advanced Very High Resolution Radiometer Normalized Difference Vegetation Index (AVHRR NDVI) imagery across China and the TIMESAT program to quantify annual vegetation production and its changing trend. Results showed great spatial variability in vegetation growth and its temporal trend across the country during the 25-year study period. Significant decreases in vegetation production were detected in the grasslands of Inner Mongolia, and in industrializing regions in southern China, including the Pearl River Delta, the Yangtze River Delta, and areas along the Yangtze River. Significant increases in vegetation production were found in Xinjiang, Central China, and North-east China. Validation of the NDVI trends and vegetated area changes were conducted using Landsat imagery and the results were consistent with the analysis from AVHRR data. We also found that although the causes of the vegetation change vary locally, the spatial pattern of the vegetation change and the areas of greatest impact from national policies launched in the 1970s, such as the opening of economic zones and the 'Three-North Shelter Forest Programme', are similar, which indicates an impact of national policies on ecosystem change and that such impacts can be detected using the method described in this paper.
基金funded by the Precision Medical Research of National Key Research and Development Program(2018YFC1002200,2019YFC1005100 to Y.Yu,2018YFC1002400 to Y.Sun,and 2018YFC1002501 to Y.Shen)National Natural Science Foundation of China(81873633 and 82071276 to Y.Shen,81830071 to J.Lyu,81873724 to Y.Sun,and 82070914 and 81873671 to Y.Yu)+7 种基金Shanghai Shen Kang Hospital Development Center(SHDC12017109 to Y.Yu)the Shanghai Science and Technology Commission(19140904500 to Y.Yu)Jiaotong University Cross Biomedical Engineering(YG2017MS72 to Y.Yu)the“Eastern Scholar”Fundthe“Guangxi Bagui Scholar”fund(to Y.Shen)the Major Research Plan of the Provincial Science and Technology Foundation of Guangxi(AB16380214 to Y.Shen)Foundation of Shanghai Municipal Health Commission(shslczdzk05702,to Y.Yu and Y.Sun)Municipal Education Commission-Gaofeng Clinical Medicine Grant Support(20191908,to Y.Yu)。
文摘Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement phenotypes.Here,we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity,including developmental delay/intellectual disability,spasm,and hypertonia.Seven different pathogenic variants are identified,of which five are novel.Both fibroblasts and immortalized lymphocytes derived from patients show impaired mitochondrial respiratory function,which is also observed in HPDL-knockdown(KD)He La cells.In these He La cells,overexpression of a wild-type HPDL gene can rescue the respiratory phenotype of oxygen consumption rate.In addition,a decreased activity of the oxidative phosphorylation(OXPHOS)complex II is observed in patient-derived lymphocytes and HPDL-KD He La cells,further supporting an essential role of HPDL in the mitochondrial respiratory chain.Collectively,our data expand the clinical and mutational spectra of this mitochondrial neuropathy and further delineate the possible disease mechanism involving the impairment of the OXPHOS complex II activity due to the bi-allelic inactivations of HPDL.
文摘Dear Editor,Berry syndrome is a rare combination of congenital cardiac malformations characterized by four abnormal features;namely,an aortopulmonary window(APW),aortic origin of the right pulmonary artery,hypoplasia or interruption of the aortic arch,with an intact ventricular septum.The disease was first reported by Berry in 1982,who estimated the incidence within the population with congenital cardiac malformations to be 0.046%(Berry et al.,1982).Until recently,