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Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction

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Chinese Medical Journal 2020年第20期133卷 2510-2511页

作者： jing-Mei Hong Miao Zhao jin He Xue-jing Huang Zhi-Yuan Zhao Wan-jin Chen Ning Wang jin-jing li Department of Neurology and Institute of Neurology The First Affiliated HospitalInstitute of NeuroscienceFujian Medical UniversityFuzhouFujian 350005China Fujian Key Laboratory of Molecular Neurology Fujian Medical UniversityFuzhouFujian 350005China

To the Editor:Spinal muscular atrophy(SMA)is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1(SMN1)protein,which causes the loss of motor neurons in the anterior horn of the spinal cord.⑴A genetically similar gene,SMN2,has a translationally silent C-to-T transition at Position 6 in its 7th exon that causes only 10%correctly spliced full-length and functional SMN protein via alternative splicing.

关键词： atrophy muscular translational

Ni-Cu bimetallic alloy anchored on nitrogen-doped carbon nanotubes for CO_(2)-to-CH_(4) electrochemical conversion

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Nano Research 2024年第8期17卷 6922-6930页

作者： jing li Chuanyong jing jin Wang School of Environment Beijing Key Laboratory of Aqueous Typical Pollutants Control and Water Quality SafeguardBeijing Jiaotong UniversityBeijing 100044China State Key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085China Tangshan Research Institute Beijing Jiaotong UniversityTangshan 063000China

Electrocatalytic CO_(2) reduction to CH_(4) remains challenging due to multi-electron transfer and intermediates ***,we synthesized electrocatalysts by growing Ni-Cu alloy structure on nitrogen-doped carbon nanotubes(NixCuy-NCNT)for electrocatalytic CO_(2) reduction reaction(CO_(2)RR)via hydrothermal method followed by *** optimized Ni_(1)Cu_(1)-NCNT demonstrated a superior CO_(2)RR performance,achieving 99.7%FECH_(4)(FE=Faradaic efficiency)and 11.54 mA·cm^(−2) current density at−1.2 V *** hydrogen electrode(RHE),which outperformed single metal *** outstanding performance was due to the electrons transferred from Cu to Ni and Ni-Cu alloy shifted the d-band center toward the Fermi level,which was more conducive to the intermediate *** situ electrochemical attenuated total reflection(EC-ATR)and density functional theory(DFT)calculations revealed the appearance of *CHO intermediate and the pathway during the CO_(2)RR *** design of the bimetallic electrocatalyst in this study provides a new perspective for the highly selective reduction of CO_(2).

关键词： electrocatalytic CO_(2) reduction Ni-Cu alloy nitrogen-doped carbon nanotube(NCNT) electrochemical attenuated total reflection(EC-ATR) density functional theory(DFT)calculations

Minimax Theorems Involving Two Functions and Strictly Monotone Transformations of Their Values

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Acta Mathematicae Applicatae Sinica 2006年第4期22卷 607-614页

作者： Cai-yun jin Cao-zong Cheng Yong-tao jin jing li Department of Mathematics Beijing University of Technology Beijing 100022 China

Two two-function minimax theorems are proved. The concavity-convexity conditions of the two functions involve strictly monotone transformations and mixing of the values of the two functions, and are described by the i... 详细信息

关键词： Minimax theorems two functions strictly monotone increasing transformation

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齿轮滚刀刃口钝化技术及应用

机械研究与应用 2024年第1期37卷 130-133页

作者：靳静力冉贞德汤静李力威曹建鑫刘震重庆齿轮箱有限责任公司重庆402263

刀具刃口钝化可以消除微观缺陷,提高刃口强度、刀具寿命及切削的稳定性。但目前国内对滚刀刃口钝化的重视程度较低,制约了刀具品质的提升。该文重点研究了滚刀刃口钝化方式,钝化介质及时间,钝化圆角的理论计算等。通过滚刀钝化试验及钝... 详细信息

刀具刃口钝化可以消除微观缺陷,提高刃口强度、刀具寿命及切削的稳定性。但目前国内对滚刀刃口钝化的重视程度较低,制约了刀具品质的提升。该文重点研究了滚刀刃口钝化方式,钝化介质及时间,钝化圆角的理论计算等。通过滚刀钝化试验及钝化滚刀的切削试验,证明刃口钝化可以有效提高滚刀耐用度及寿命,为滚刀的钝化研究提供了依据。

关键词：刀具钝化喷砂钝化钝化圆角

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

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Chinese Medical Journal 2018年第13期131卷 1575-1583页

作者： jin He Han lin jin-jing li Hui-Zhen Su Dan-Ni Wang Yu lin Ning Wang Wan-jin Chen Department of Neurology and Institute of Neurology First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China Fujian Key Laboratory of Molecular Neurology Fujian Medical University Fuzhou Fujian 350005 Ohina

Background： Progressive myoclonus epilepsies （PMEs） conaprise a group of rare genetic disorders characterized by action rnyoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinical and genetic heterogeneity of PMEs, it is difficult to decide which genes are affected. The aim of this study was to report an action myoclonus with or without renal failure syndrome （EPM4） fhmily and summarize the clinical and genetic characteristics of all reported EPM4 patients. Meihods： In the present study, targeted next-generation sequencing （NGS） was applied to screen causative genes in a Chinese PME family. The candidaie variant was further confirmed by cosegregation analysis and further functional analysis, including the reverse transcription polymerase chain reaction and Western blot of the proband＇s muscle. Moreovel, literature data on the clinical and mutational features of all reported EPM4 patients were reviewed. Results： The gene analysis revealed a novel homozygous splicing mutation （c.995-1G〉A） of the SCARB2 gene in two brothers. Further functional analysis revealed that this mutation led to loss function of the SCARB2 protein. The classification of the candidate variant, according to the American College of Medical Genetics and Genomics standards and guidelines and functional analysis, was pathogenic. Therefore, these two brothers were finally diagnostically confirmed as EPM4. Conclusions： These present results suggest the potential for targeted NGS to conduct a more rapid and precise diagnosis for PME patients. A literature review revealed that mutations in the different functional domains of SCARB2 appear to be associated with the phenotype of EPM4.

关键词： Progressive Myoclonus Epilepsies Progressive Myoclonus Epilepsy with or without Renal Failure SCARB2 Gene Targeted Next-Generation Sequencing

Modified subintimal plaque modification improving future recanalization of chronic total occlusion percutaneous coronary intervention

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Journal of Geriatric Cardiology 2020年第7期17卷 393-399页

作者： Ruo-Fei JIA Long li Yong ZHU Cheng-Zhi YANG Shuai MENG Yang RUAN Xiao-jing CAO Hong-Yu HU Wei CHEN jing NAN Xiao-Wei XIONG jing-jin li Jia-Yu WANG Ze-Ning jin Department of Cardiology and Macrovascular Disease Beijing Tiantan HospitalCapital Medical UniversityBeijingChina Department of Cardiology Beijing Anzhen HospitalCapital Medical UniversityBeijingChina

Background Subintimal plaque modification(SPM) is often performed to restore antegrade flow and facilitate subsequent lesion recanalization. This study aimed to compare the safety and efficacy of modified SPM with traditional SPM. Methods A total of 1454 consecutive patients who failed a chronic total occlusion percutaneous coronary intervention(CTO PCI) attempt and underwent SPM from January 2015 to December 2019 at our hospital were reviewed retrospectively. Fifty-four patients who underwent SPM finally were included in this study. We analyzed the outcomes of all the patients, and the primary endpoint was recanalization rate, which was defined as Thrombolysis in Myocardial Infarction(TIMI) grades 2-3 flow on angiography 30 to 90 days post-procedure. Results The baseline characteristics were similar between the two groups. In the follow-up, the recanalization rate was noticeably higher in the modified SPM group compared with the traditional SPM group(90.9% vs. 62.5%, P likelihood of successful recanalization, is an effective and safe CTO PCI bail out strategy.

关键词： Chronic total occlusion Recanalization Subintimal plaque modification

Wood-inhabiting marine fungi from the coast of Shandong, China Ⅲ

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菌物学报 2008年第1期27卷 66-74页

作者： SUN Su-li jin jing li Bao-Du LU Bing-Sheng College of Plant Protection Qingdao Agricultural University Qingdao 266109 China

Five species of higher marine fungi were observed on the incubated drift and intertidal woods collected from the coasts of Yellow Sea and Bohai Sea. Among them, Halosphaeriopsis was a genus newly recorded for China. Taxonomy and morphology of these species were discussed in this paper. The specimens were deposited in Mycology Herbarium at Qingdao Agricultural University (MHQAU).

关键词：山东海岸木生海洋真菌新记录新种

Graphdiyne(C_(n)H_(2n-2))as an"electron transfer bridge"boosting photocatalytic hydrogen evolution over Zn_(0.5)Co_(0.5)S/MoS_(2)S-scheme heterojunction

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Rare Metals 2024年第5期43卷 1999-2014页

作者： Mei li jing-Zhi Wang Zhi-liang jin School of Chemistry and Chemical Engineering North Minzu UniversityYinchuan 750021China School of Chemistry and Chemical Engineering Ningxia Key Laboratory of Solar Chemical Conversion TechnologyKey Laboratory for Chemical Engineering and TechnologyState Ethnic Affairs CommissionNorth Minzu UniversityYinchuan 750021China

In the process of photocatalytic water cracking,the migration rate and utilization rate of photogenerated charges determine the hydrogen evolution performance of the *** this paper,a carbon isotope superconducting material graphdiyne(GDY)is prepared by mechanical ball milling and introduced into the S-scheme heterojunction Zn_(0.5)Co_(0.5)S/MoS_(2)inorganic *** terms of hydrogen evolution kinetics,GDY acts as an electron bridge,not only accelerating the migration of photogenerated carriers but also improving the utilization of photogenerated ***,the large twodimensional layer provides more loading and anchoring points for Zn_(0.5)Co_(0.5)S/MoS_(2),which increases the number of active *** ternary composite catalyst 20%GDY/Zn_(0.5)Co_(0.5)S/MoS_(2)(20-GCSM)generates 69.94μmol of hydrogen(5 h)in triethanolamine *** is 2.97 and1.80 times higher than Zn_(0.5)Co_(0.5)S and Zn_(0.5)Co_(0.5)S/MoS_(2),*** the cyclic experiment,it still has stable hydrogen evolution performance after standing for24 h(under dark conditions).In addition,the potential mechanism of photocatalytic hydrogen evolution is demonstrated through in-situ X-ray photoelectron *** work provides a reference for further research in the field of introducing carbon materials into photocatalytic systems and improving the utilization of photogenerated charges.

关键词： Graphdiyne S-scheme heterojunction Electron transfer bridge Hydrogen production

Effect of low-degree astigmatism on the objective visual quality

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International Journal of Ophthalmology(English edition) 2024年第6期17卷 1086-1093页

作者： ling-Ying Ye Shu-Feng li jing-jing Zuo jin li Hui-Xiang Ma National Clinical Research Center for Ocular Diseases Eye HospitalWenzhou Medical UniversityWenzhou 325027Zhejiang ProvinceChina

AIM:To evaluate the effect of low-degree astigmatism on objective visual quality through the Optical Quality Analysis System(OQAS).METHODS:This study enrolled 46 participants(aged 23 to 30y,90 eyes)with normal or corrected-to-normal *** cylindrical lenses(0,0.5,0.75,1.0,and 1.25 D)were placed at the axial direction(180°,45°,90°,and 135°)in front of the eyes with the best correction to form 16 types of regular low-degree *** was used to detect the objective visual quality,recorded as the objective scattering index(OSI),OQAS values at contrasts of 100%,20%,and 9%predictive visual acuity(OV100%,OV20%,and OV9%),modulation transfer function cut-off(MTFcut-off)and Strehl ratio(SR).The mixed effect linear model was used to compare objective visual quality differences between groups and examine associations between astigmatic magnitude and objective visual quality ***:Apparent negative relationships between the magnitude of low astigmatism and objective visual quality were *** increase of OSI per degree of astigmatism at 180°,45°,90°,and 135°axis were 0.38(95%CI:0.35,0.42),0.50(95%CI:0.46,0.53),0.49(95%CI:0.45,0.54)and 0.37(95%CI:0.34,0.41),*** decrease of MTFcut-off per degree of astigmatism at 180°,45°,90°,and 135°axis were-10.30(95%CI:-11.43,-9.16),-12.73(95%CI:-13.62,-11.86),-12.75(95%CI:-13.79,-11.70),and-9.97(95%CI:-10.92,-9.03),*** the same astigmatism degree,OSI at 45°and 90°axis were higher than that at 0°and 135°axis,while MTFcut-off were ***:Low astigmatism of only 0.50 D can significantly reduce the objective visual quality.

关键词： low-degree astigmatism objective visual quality Optical Quality Analysis System