NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems ...NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 Deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 Deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3D initiation area as a percentage of the complete movement. The statistical tests of these measures revealed no significant differences between the two participants, possibly suggesting a common underlying motor control strategy. The 3D techniques used in this report effectively characterized arm movements of an individual with NGLY1 deficiency and can be used to provide information to evaluate the effectiveness of genetic, pharmacological, or physical rehabilitation therapies.展开更多
目的探讨3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-coenzyme A carboxylase deficiency,MCCD)患儿的临床及遗传学特征。方法回顾性分析2018年1月-2023年10月就诊于郑州大学附属儿童医院的6例MCCD患儿的临床表现及基因检测结果...目的探讨3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-coenzyme A carboxylase deficiency,MCCD)患儿的临床及遗传学特征。方法回顾性分析2018年1月-2023年10月就诊于郑州大学附属儿童医院的6例MCCD患儿的临床表现及基因检测结果。结果6例MCCD患儿中,男性4例,女性2例,平均就诊年龄为7 d,平均确诊年龄为45 d。1例小便气味异常,5例无临床症状。6例患儿血3-羟基异戊酰肉碱、尿3-羟基异戊酸、3-甲基巴豆酰甘氨酸均增高,5例伴游离肉碱降低。共检出MCCC1基因变异6个:c.1630del(p.R544Dfs*2)、c.269A>G(p.D90G)、c.1609T>A(p.F537I)、c.639+2T>A、c.761+1G>T、c.1331G>A(p.R444H),以及MCCC2基因变异3个:c.838G>T(p.D280Y)、c.592C>T(p.Q198*,366)、c.1342G>A(p.G448A),其中MCCC1基因c.269A>G(p.D90G)、c.1609T>A(p.F537I)未见文献报道。1例为母源性MCCD,患儿携带来自母亲的一个杂合变异。5例伴游离肉碱降低患儿予补充左卡尼汀,末次随访时游离肉碱均恢复至正常水平。结论MCCC1基因c.269A>G(p.D90G)、c.1609T>A(p.F537I)为新发现的变异,丰富了MCCC1基因变异谱。血氨基酸及酰基肉碱谱和尿有机酸谱联合基因检测有助于MCCD早期诊断和治疗,并为遗传咨询提供参考。展开更多
The modification of graphitic carbon nitride can significantly improve the photocatalytic performance of graphitic carbon nitride(g-C3N4).Fe2O3/nitrogen-deficient g-C3N4-x composite catalysts were prepared with dicyan...The modification of graphitic carbon nitride can significantly improve the photocatalytic performance of graphitic carbon nitride(g-C3N4).Fe2O3/nitrogen-deficient g-C3N4-x composite catalysts were prepared with dicyandiamide as the precursor and Fe3+doped in this study.The composite catalysts were characterized by XRD,SEM,FT-IR,XPS and photocurrent measurements.Close interaction occurred between Fe2O3 and nitrogen deficient g-C3N4-x,more photogenerated electrons were created and effectively separated from the holes,resulting in a decrease of photocarrier recombination,and thus enhancing the photocurrent.Photocatalytic performance experiments showed that Fe2O3/nitrogen deficient g-C3N4-x could utilize lowenergy visible light more efficiently than pure g-C3N4,and the removal rate was 92%in 60 minutes.展开更多
The essential effect of vitamin A on immune function occurs through various mechanisms including direct effect on ThloTh2 balance modulation. However, it is unclear whether or not vitamin A can regulate Thl-Th2 balanc...The essential effect of vitamin A on immune function occurs through various mechanisms including direct effect on ThloTh2 balance modulation. However, it is unclear whether or not vitamin A can regulate Thl-Th2 balance under a strong Thl-polarizing condition. Therefore, the purpose of our study was to examine the effect of vitamin A metabolite allotrans retinoic acid （ATRA） on ThloTh2 differentiation in CD4~ T cells under GATA-3 deficiency, which can induce Thl-polarizing condition. In the present study, GATA-3 deficiency T cells were induced by siRNA and checked by real-time quantitative PCR and western blot. GATA-3 deficiency CD4＋ T cells and normal CD4＋ T were treated for 48 h with or without ATRA.展开更多
Objective:To assess emotional fluctuations,physical and mental health status,and indicators closely related to red blood cells,such as RIO kinase 3(Riok3),MAX interactor 1(Mxi1),and microRNA 191(miR191),in participant...Objective:To assess emotional fluctuations,physical and mental health status,and indicators closely related to red blood cells,such as RIO kinase 3(Riok3),MAX interactor 1(Mxi1),and microRNA 191(miR191),in participants with different levels of red blood cells.Methods:Participants who underwent physical examinations at Dongfang Hospital between April and October 2019 were divided into healthy,blood deficiency,and anemia groups(30 individuals in the healthy and blood deficiency group respectively,and 13 in the anemia group).The physical and mental conditions of the participants were evaluated through questionnaires,and emotional fluctuations were assessed through an emotion-inducing experiment,in which participants watched video segments designed to induce specific emotions.Relative expression levels of miR191,Riok3,and Mxi1 from venous blood samples were also determined.Results:The main psychological factors identified in the anemia and blood deficiency groups were obsessive-compulsive symptoms,depression,anxiety,and other negative emotions.Relative gene expression levels indicated that miR191 was upregulated and Riok3 and Mxi1 were downregulated in both the blood deficiency and anemia groups.Regarding the emotional score of disgust on video stage,the main effect was significant(F=335.58,P<.001),which showed that watching the three videos caused participants to have a dominant emotion,and there is a difference on group(F=5.35,P=.01),with higher disgust scores in the anemia and blood deficiency groups.The symptoms of blood deficiency and anemia,such as weakness in limbs were significantly negatively correlated with Riok3 and Mxi1 expression(r=-0.38 and-0.31 respectively),but was significantly positively correlated with miR191 expression(r=0.29).Conclusion:We determined that a close relationship exists between red blood cell levels and emotional status.Our findings suggest that individuals with anemia and blood deficiency are more likely to experience psychological problems and negative emotions,particularly disgust.We also demonstrate that emotional regulation is related to mir191-Riok3-Mxi1 pathway activity,identifying these pathway components are potential targets for genetic therapies in combination with psychological therapy.展开更多
In this work, the syntheses and characterization of oxygen deficient perovskite cobalt oxides prepared under ambient pressure conditions with different “x” in the Co(Sr1-xYx)O3–δ;0.05 ≤ x ≤ 0.4 series are report...In this work, the syntheses and characterization of oxygen deficient perovskite cobalt oxides prepared under ambient pressure conditions with different “x” in the Co(Sr1-xYx)O3–δ;0.05 ≤ x ≤ 0.4 series are reported. The system studied in the present investigation undergoes structural phase transition at room temperature from cubic to tetragonal symmetry. The samples with x ≥ 0.2 show a tetragonal structure with I4/mmm space group, while the samples with 0.05 ≤ x ≤ 0.15 reveal cubic with pm3m group symmetry. Quite similar to Ho-substituted system [J. Appl. Phys. 103, 07B903 (2008)], the present Y-doped magnetization data clearly show the appearance of an enhanced ferromagnetic component at ~350 K for 0.15 ≤ x ≤ 0.225. Unlike the Ho-substituted system, the present narrow compositions behave as hard ferromagnet with quite high coercive field, Hc = 11.02, 12.25 and 14.0 kOe for x = 0.15, 0.2 and 0.225 compositions, respectively at T = 10 K. All the compositions show a semiconducting-like behaviour and some interesting features of temperature dependence of magnetoresistance (MR) are observed. The Co(Sr1-xYx)O3–δ samples seemly to obey variable range hopping conduction model showing a linear ln ρ versus T–1/4 dependence at the temperature range 80 K ≤ T ≤ 300 K.展开更多
[目的]研究鹿红方改善心肌梗死后心肌纤维化的作用机制。[方法]采用冠状动脉结扎法制备心肌梗死后心肌纤维化模型。将60只SD大鼠随机分配至假手术组、模型组、鹿红方组以及培哚普利组,干预4周后用心脏彩色多普勒超声检查测量心脏结构和...[目的]研究鹿红方改善心肌梗死后心肌纤维化的作用机制。[方法]采用冠状动脉结扎法制备心肌梗死后心肌纤维化模型。将60只SD大鼠随机分配至假手术组、模型组、鹿红方组以及培哚普利组,干预4周后用心脏彩色多普勒超声检查测量心脏结构和左室射血分数,苏木精-伊红(hematoxylin-eosin,HE)染色、Masson和天狼星红染色观察心脏组织纤维化病理改变,免疫印迹检测心脏信号转导及转录激活因子3(signal transducer and activator of transcription 3,STAT3)分泌情况,酶联免疫吸附分析(enzymelinked immunosorbent assay,ELISA)检测血清促纤维化因子结缔组织生长因子(connective tissue growth factor,CTGF)、血小板反应蛋白-1(thrombospondin-1,TSP-1)、基质金属蛋白酶抑制剂-1(tissue inhibitor of metalloproteinase-1,TIMP-1)的水平。[结果]心脏彩色多普勒超声检查提示,与模型组比较,鹿红方和培哚普利干预均可抑制左室舒张末容积和左室舒张末内径的增大,而且使左室射血分数明显提升(P<0.05)。与培哚普利组比较,鹿红方组改善心室不良扩大与提高左室射血分数作用相近。HE染色结果显示,与模型组比较,鹿红方组和培哚普利组异常形态的心肌细胞数目明显减少,细胞间质肿胀减轻,炎症细胞浸润减少。Masson和天狼星红染色结果显示,与模型组比较,鹿红方组和培哚普利组干预均可减轻心肌纤维化病变程度。鹿红方组改善上述心肌病理改变和减轻心肌纤维化作用与培哚普利组相近。免疫印迹检测显示,与模型组比较,鹿红方和培哚普利干预均可增加心肌STAT3分泌(P<0.05),鹿红方组促进心肌分泌STAT3的作用与培哚普利组相近,差异无统计学意义(P>0.05)。ELISA结果显示,与模型组比较,鹿红方组与培哚普利组CTGF、TSP-1、TIMP-1水平显著降低(P<0.05),鹿红方组抑制CTGF、TSP-1和TIMP-1分泌作用与培哚普利组相近,差异无统计学意义(P>0.05)。[结论]鹿红方可显著抑制心肌梗死后心肌纤维化,其机制与上调STAT3水平,抑制促纤维化因子CTGF、TSP-1和TIMP-1分泌有关。展开更多
Inverse halogen bonds interactions involving Br in the electronic deficiency systems of CH3＋...Br-Y （Y=H, CCH, CN, NC） have been investigated by B3LYP/6- 311＋＋G（d, p） and MP2/6-311＋＋G（d, p） methods. The cal...Inverse halogen bonds interactions involving Br in the electronic deficiency systems of CH3＋...Br-Y （Y=H, CCH, CN, NC） have been investigated by B3LYP/6- 311＋＋G（d, p） and MP2/6-311＋＋G（d, p） methods. The calculated interaction energies with basis set super-position error correction of the four IXBs complexes are 218.87, 219.48, 159.18, and 143.05kJ/mol （MP2/6-311＋＋G（d, p））, respectively. The relative stabilities of the four complexes increased in the order： CH3＋ … BrCN〈CH3＋…- BrNC〈CH3＋… BrH≈CH3＋ …BrCCH. Natural bond orbital theory analysis and the chemical shifts calculation of the related atoms revealed that the charges flow from Br-Y to CH3e. Here, the Br of Br-Y acts as both a halogen bond donor and an electron donor. Therefore, compared with conventional halogen bonds, the IXBs complexes formed between Br-Y and CH3＋. Atoms-in-molecules theory has been used to investigate the topological properties of the critical points of the four IXBs structures which have more covalent content.展开更多
文摘NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 Deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 Deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3D initiation area as a percentage of the complete movement. The statistical tests of these measures revealed no significant differences between the two participants, possibly suggesting a common underlying motor control strategy. The 3D techniques used in this report effectively characterized arm movements of an individual with NGLY1 deficiency and can be used to provide information to evaluate the effectiveness of genetic, pharmacological, or physical rehabilitation therapies.
基金Supported by the Fuling Shale Gas Environmental Exploration Technology of National Science and Technology Special Project(No.2016ZX05060)the Demonstration of Integrated Management of Rocky Desertification and Enhancement of Ecological Service Function in Karst Peak-cluster Depression(No.2016YFC0502400)National Natural Science Foundation of China(No.51709254)
文摘The modification of graphitic carbon nitride can significantly improve the photocatalytic performance of graphitic carbon nitride(g-C3N4).Fe2O3/nitrogen-deficient g-C3N4-x composite catalysts were prepared with dicyandiamide as the precursor and Fe3+doped in this study.The composite catalysts were characterized by XRD,SEM,FT-IR,XPS and photocurrent measurements.Close interaction occurred between Fe2O3 and nitrogen deficient g-C3N4-x,more photogenerated electrons were created and effectively separated from the holes,resulting in a decrease of photocarrier recombination,and thus enhancing the photocurrent.Photocatalytic performance experiments showed that Fe2O3/nitrogen deficient g-C3N4-x could utilize lowenergy visible light more efficiently than pure g-C3N4,and the removal rate was 92%in 60 minutes.
基金supported by the National Natural Science Foundation of China(No.30671761)
文摘The essential effect of vitamin A on immune function occurs through various mechanisms including direct effect on ThloTh2 balance modulation. However, it is unclear whether or not vitamin A can regulate Thl-Th2 balance under a strong Thl-polarizing condition. Therefore, the purpose of our study was to examine the effect of vitamin A metabolite allotrans retinoic acid （ATRA） on ThloTh2 differentiation in CD4~ T cells under GATA-3 deficiency, which can induce Thl-polarizing condition. In the present study, GATA-3 deficiency T cells were induced by siRNA and checked by real-time quantitative PCR and western blot. GATA-3 deficiency CD4＋ T cells and normal CD4＋ T were treated for 48 h with or without ATRA.
基金supported by the National Natural Science Foundation of China(81674100).
文摘Objective:To assess emotional fluctuations,physical and mental health status,and indicators closely related to red blood cells,such as RIO kinase 3(Riok3),MAX interactor 1(Mxi1),and microRNA 191(miR191),in participants with different levels of red blood cells.Methods:Participants who underwent physical examinations at Dongfang Hospital between April and October 2019 were divided into healthy,blood deficiency,and anemia groups(30 individuals in the healthy and blood deficiency group respectively,and 13 in the anemia group).The physical and mental conditions of the participants were evaluated through questionnaires,and emotional fluctuations were assessed through an emotion-inducing experiment,in which participants watched video segments designed to induce specific emotions.Relative expression levels of miR191,Riok3,and Mxi1 from venous blood samples were also determined.Results:The main psychological factors identified in the anemia and blood deficiency groups were obsessive-compulsive symptoms,depression,anxiety,and other negative emotions.Relative gene expression levels indicated that miR191 was upregulated and Riok3 and Mxi1 were downregulated in both the blood deficiency and anemia groups.Regarding the emotional score of disgust on video stage,the main effect was significant(F=335.58,P<.001),which showed that watching the three videos caused participants to have a dominant emotion,and there is a difference on group(F=5.35,P=.01),with higher disgust scores in the anemia and blood deficiency groups.The symptoms of blood deficiency and anemia,such as weakness in limbs were significantly negatively correlated with Riok3 and Mxi1 expression(r=-0.38 and-0.31 respectively),but was significantly positively correlated with miR191 expression(r=0.29).Conclusion:We determined that a close relationship exists between red blood cell levels and emotional status.Our findings suggest that individuals with anemia and blood deficiency are more likely to experience psychological problems and negative emotions,particularly disgust.We also demonstrate that emotional regulation is related to mir191-Riok3-Mxi1 pathway activity,identifying these pathway components are potential targets for genetic therapies in combination with psychological therapy.
文摘In this work, the syntheses and characterization of oxygen deficient perovskite cobalt oxides prepared under ambient pressure conditions with different “x” in the Co(Sr1-xYx)O3–δ;0.05 ≤ x ≤ 0.4 series are reported. The system studied in the present investigation undergoes structural phase transition at room temperature from cubic to tetragonal symmetry. The samples with x ≥ 0.2 show a tetragonal structure with I4/mmm space group, while the samples with 0.05 ≤ x ≤ 0.15 reveal cubic with pm3m group symmetry. Quite similar to Ho-substituted system [J. Appl. Phys. 103, 07B903 (2008)], the present Y-doped magnetization data clearly show the appearance of an enhanced ferromagnetic component at ~350 K for 0.15 ≤ x ≤ 0.225. Unlike the Ho-substituted system, the present narrow compositions behave as hard ferromagnet with quite high coercive field, Hc = 11.02, 12.25 and 14.0 kOe for x = 0.15, 0.2 and 0.225 compositions, respectively at T = 10 K. All the compositions show a semiconducting-like behaviour and some interesting features of temperature dependence of magnetoresistance (MR) are observed. The Co(Sr1-xYx)O3–δ samples seemly to obey variable range hopping conduction model showing a linear ln ρ versus T–1/4 dependence at the temperature range 80 K ≤ T ≤ 300 K.
文摘[目的]研究鹿红方改善心肌梗死后心肌纤维化的作用机制。[方法]采用冠状动脉结扎法制备心肌梗死后心肌纤维化模型。将60只SD大鼠随机分配至假手术组、模型组、鹿红方组以及培哚普利组,干预4周后用心脏彩色多普勒超声检查测量心脏结构和左室射血分数,苏木精-伊红(hematoxylin-eosin,HE)染色、Masson和天狼星红染色观察心脏组织纤维化病理改变,免疫印迹检测心脏信号转导及转录激活因子3(signal transducer and activator of transcription 3,STAT3)分泌情况,酶联免疫吸附分析(enzymelinked immunosorbent assay,ELISA)检测血清促纤维化因子结缔组织生长因子(connective tissue growth factor,CTGF)、血小板反应蛋白-1(thrombospondin-1,TSP-1)、基质金属蛋白酶抑制剂-1(tissue inhibitor of metalloproteinase-1,TIMP-1)的水平。[结果]心脏彩色多普勒超声检查提示,与模型组比较,鹿红方和培哚普利干预均可抑制左室舒张末容积和左室舒张末内径的增大,而且使左室射血分数明显提升(P<0.05)。与培哚普利组比较,鹿红方组改善心室不良扩大与提高左室射血分数作用相近。HE染色结果显示,与模型组比较,鹿红方组和培哚普利组异常形态的心肌细胞数目明显减少,细胞间质肿胀减轻,炎症细胞浸润减少。Masson和天狼星红染色结果显示,与模型组比较,鹿红方组和培哚普利组干预均可减轻心肌纤维化病变程度。鹿红方组改善上述心肌病理改变和减轻心肌纤维化作用与培哚普利组相近。免疫印迹检测显示,与模型组比较,鹿红方和培哚普利干预均可增加心肌STAT3分泌(P<0.05),鹿红方组促进心肌分泌STAT3的作用与培哚普利组相近,差异无统计学意义(P>0.05)。ELISA结果显示,与模型组比较,鹿红方组与培哚普利组CTGF、TSP-1、TIMP-1水平显著降低(P<0.05),鹿红方组抑制CTGF、TSP-1和TIMP-1分泌作用与培哚普利组相近,差异无统计学意义(P>0.05)。[结论]鹿红方可显著抑制心肌梗死后心肌纤维化,其机制与上调STAT3水平,抑制促纤维化因子CTGF、TSP-1和TIMP-1分泌有关。
基金This work was supported by the National Natural Science Foundation of China （No.51063006 and No.50975273） and the ＂QingLan＂ Talent Engineering Funds of Tianshui Normal University.
文摘Inverse halogen bonds interactions involving Br in the electronic deficiency systems of CH3＋...Br-Y （Y=H, CCH, CN, NC） have been investigated by B3LYP/6- 311＋＋G（d, p） and MP2/6-311＋＋G（d, p） methods. The calculated interaction energies with basis set super-position error correction of the four IXBs complexes are 218.87, 219.48, 159.18, and 143.05kJ/mol （MP2/6-311＋＋G（d, p））, respectively. The relative stabilities of the four complexes increased in the order： CH3＋ … BrCN〈CH3＋…- BrNC〈CH3＋… BrH≈CH3＋ …BrCCH. Natural bond orbital theory analysis and the chemical shifts calculation of the related atoms revealed that the charges flow from Br-Y to CH3e. Here, the Br of Br-Y acts as both a halogen bond donor and an electron donor. Therefore, compared with conventional halogen bonds, the IXBs complexes formed between Br-Y and CH3＋. Atoms-in-molecules theory has been used to investigate the topological properties of the critical points of the four IXBs structures which have more covalent content.
