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Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment

World Journal of Pediatrics 2020年第6期16卷 575-584页

作者： mei-ping yu Xi-Sheng Xu Qing Zhou Natalie Deuitch mei-ping Lu Department of Rheumatology Immunology and Allergy.Children's Hospital Zhejiang University School of MedicineHangzhou 310052China MOE Key Laboratory of Biosystems Homeostasis&Protection Life Sciences Institute.Zhejiang UniversityHangzhouChina Genetics Department Stanford UniversityCaliforniaUSA

Background A20,a protein encoded by the tumor necrosis factor alpha-induced protein 3 gene(TNFAIP3),plays a vital role in the negative regulation of inflammation and ***-of-function mutation in TNFAIP3 leads to a new described autoinflammatory disease-haploinsufficiency of A20(HA20).Since HA20 was first described in 2016,a number of new cases have been described in this literature,however,the disease and its pathogenesis are poorly *** review seeks to improve clinical recognition of this disorder,and promote both earlier diagnosis and initiation of targeted therapies to improve patients’*** We reviewed 26 papers about A20 and HA20,and we summarized genetic variants and clinical manifestations of a total of 61 reported patients from 26 families identified to have a genetic diagnosis of germline pathogenic variants in TNFAIP3/***,we discussed the pathogenesis and treatment of *** A total of 24 pathogenic variants of A20 had been *** was significant clinical heterogeneity,even among those with the same variants in *** to receiving a molecular diagnosis of HA20,patients had been diagnosed with Behcet's disease,rheumatoid arthritis,rheumatic fever,juvenile idiopathic arthritis,systemic lupus erythematosus,and even adult-onset Stills'*** patients with HA20 that presented with inflammatory signatures in NF-kB signaling were mostly responsive to *** HA20 is a monogenic autoinflammatory disease with highly variable clinical *** extensive heterogeneity makes it difficult to set a clinical diagnostic criteria,and genetic sequencing is necessary for a definitive diagnosis of HA20.

关键词： Autoinflammatory disease HA20 NF-κB signaling TNFAIP3 Treatment

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Analysis of Synonymous Codon Usage Bias in Chlamydia

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Acta Biochimica et Biophysica Sinica 2005年第1期37卷 1-10页

作者： Hui L(?) Wei-Ming ZHAO~* Yan ZHENG Hong WANG mei QI Xiu-ping yu Department of Medical Microbiology,School of Medicine,Shangdong University,Jinan 250012,China Department of Medical Microbiology School of Medicine Shandong University Jinan 250012 China.

Chlamydiae are obligate intracellular bacterial pathogens that cause ocular and sexuallytransmitted diseases,and are associated with cardiovascular *** analysis of codon usage mayimprove our understanding of the evolution and pathogenesis of Chlamydia and allow reengineering of targetgenes to improve their expression for gene ***,we analyzed the codon usage of ***,***(here indicating biovar trachoma and LGV),***,and *** using the codonusage database and the CUSP(Create a codon usage table)program of EMBOSS(The European MolecularBiology Open Software Suite).The results show that the four genomes have similar codon usage patterns,with a strong bias towards the codons with A and T at the third codon *** with Homosapiens,the four chlamydial species show discordant seven or eight preferred *** ENC(effectivenumber of codons used in a gene)-plot reveals that the genetic heterogeneity in Chlamydia is constrained bythe G+C content,while translational selection and gene length exert relatively weaker ***,mutational pressure appears to be the major determinant of the codon usage variation among the *** addition,we compared the codon preferences of *** with those of ***,yeast,adenovirus and Homo *** are 23 codons showing distinct usage differences between *** ***,24 between *** and adenovirus,21 between *** and Homo sapiens,butonly six codons between *** and ***,the yeast system may be more suitable for theexpression of chlamydial ***,we compared the codon preferences of *** with those ofsix eukaryotes,eight prokaryotes and 23 *** is a strong positive correlation between the differ-ences in coding GC content and the variations in codon bias(r=0.905,P<0,001).We conclude that thevariation of codon bias between *** and other organisms is much less influenced b

关键词： Chlamydia codon usage bias GC content gene expression

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Acute and chronic excitotoxicity in ischemic stroke and late-onset Alzheimer's disease

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Neural Regeneration Research 2025年第7期20卷 1981-1988页

作者： Shan ping yu Emily Choi Michael QJiang Ling Wei Department of Anesthesiology Emory University School of MedicineAtlantaGAUSA Center for Visual and Neurocognitive Rehabilitation Atlanta Veterans Affairs Medical CenterDecaturGAUSA

Stroke and Alzheimer's disease are common neurological disorders and often occur in the same *** comorbidity of the two neurological disorders represents a grave health threat to older *** review presents a brief background of the development of novel concepts and their clinical *** activity of glutamatergic N-methyl-D-aspartate receptors and N-methyl-D-aspartate receptor-mediated Ca^(2+)influx is critical for neuronal *** ischemic insult induces prompt and excessive glutamate release and drastic increases of intracellular Ca^(2+)mainly via N-methyl-D-aspartate receptors,particularly of those at the extrasynaptic *** Ca^(2+)-evoked neuronal cell death in the ischemic core is dominated by necrosis within a few hours and days known as acute ***,mild but sustained Ca^(2+)increases under neurodegenerative conditions such as in the distant penumbra of the ischemic brain and early stages of Alzheimer's disease are not immediately toxic,but gradually set off deteriorating Ca^(2+)-dependent signals and neuronal cell loss mostly because of activation of programmed cell death *** on the Ca^(2+)hypothesis of Alzheimer's disease and recent advances,this Ca^(2+)-activated“silent”degenerative excitotoxicity evolves from years to decades and is recognized as a unique slow and chronic *** N-methyl-D-aspartate receptor subunit GluN3A,primarily at the extrasynaptic site,serves as a gatekeeper for the N-methyl-D-aspartate receptor activity and is neuroprotective against both acute and chronic *** stroke and Alzheimer's disease,therefore,share an N-methyl-D-aspartate receptor-and Ca^(2+)-mediated mechanism,although with much different time *** is thus proposed that early interventions to control Ca^(2+)homeostasis at the preclinical stage are pivotal for individuals who are susceptible to sporadic late-onset Alzheimer's disease and Alzheimer's disease-related

关键词： Ca^(2+)hypothesis cognitive deficits hyperactivity late-onset Alzheimer's disease neurodegeneration N-methyl-D-aspartate receptors N-methyl-D-aspartate receptor subunits pathogenesis preventive treatment

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Impact of Veratrum nigrum *** Euphorbia fischeriana *** Embryo Development of Cattle in Sanjiang Area

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Agricultural Sciences in China 2002年第12期1卷 1387-1392页

作者： PENG Ke-mei, FENG yu-ping, LIU Hua-zhen, CHENG Guo-fu, YANG Jun and LI Xin(Veterinary College , Huazhong Agricultural University, Wuhan 430070 , P.R.China Heilongjiang August First LandReclamation University, Mishan 158308 , P.R.China) Veterinary College Huazhong Agricultural University Wuhan 430070 P.R.China Heilongjiang August First Land Reclamation University Mishan 158308 P.R.China

It is very important to find out the reasons and the morphological changes of cattle abortion, death embryo and teratism in Sanjiang area, in order to determine the preventive measures, to improve animal quality, and to accelerate the animal industry. In the present studies, 25 cows and 25 local bos calves were investigated. The powder of Veratrum nigrum L. and Euphorbia fischeriana steud. was medicated to the animals during the 15 - 19th day of gestation. It was found that there were different poisoning reactions. When the poisoning was on the 15 - 16th day of gestation, the pregnant animals were easy to miscarriage. When the poisoning was on the 17 - 18th day of gestation, the embryos were easy to become teratism. The joint malformation bicephalus and rachischisis could take place for calves. If the poisoning was after 19th day of gestation , there were much more death embryos. The results of the studies showed that Veratrum and Euphorbia fischeriana steud. were the most poisonous plants to the animal industry of Sanjiang area. Some preventive measures were proposed.

关键词： Sanjiang area Veratum nigrum Euphorbia fischeriana steud. Cattle Embryo development

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谈我国加入WTO后学校体育的新观念

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南京体育学院学报（社会科学版） 2002年第2期16卷 107-108页

作者：梅玉萍扬州大学体育学院

从分析我国加入WTO后的新形势,提出了学校体育适应这一变化的新观念,全球性观念,市场观念,人本化观念,信息化观念等。加速学校体育的改革和转化。

关键词：中国入世学校体育新观念

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浅析体育游戏在篮球移动教学中的运用

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解放军体育学院学报 2003年第1期22卷 116-117页

作者：梅玉萍扬州大学体育学院 225000

篮球选修课是目前高校开设的诸多选修课中最受欢迎的课程之一,篮球移动教学是多项技术教学的基础,而体育游戏在篮球移动技术教学中有着积极的意义。

关键词：篮球移动技术教学体育游戏运用

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大学体育对加强学生协作能力培养的对策研究

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解放军体育学院学报 2002年第3期21卷 120-121页

作者：梅玉萍扬州大学体育学院江苏扬州225000

知识经济时代对人的综合素质提出了更高的要求,社会分工的细化则更呼唤着人的交流合作的精神,而这正是当前大学生所欠缺的,针对这一急需解决的问题,从高校体育教育的角度分析了加强大学生协作精神及协作能力的意义。并提出了在体育活动... 详细信息

知识经济时代对人的综合素质提出了更高的要求,社会分工的细化则更呼唤着人的交流合作的精神,而这正是当前大学生所欠缺的,针对这一急需解决的问题,从高校体育教育的角度分析了加强大学生协作精神及协作能力的意义。并提出了在体育活动中培育学生协作能力的方法和途径。

关键词：大学体育学生协作能力培养对策

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体育课程改革要“强化两头淡化中间”

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南京体育学院学报（社会科学版） 2002年第6期16卷 139-140页

作者：梅玉萍扬州大学体育学院江苏扬州225001

1导语

关键词：体育教学教育改革教育目标健康教育课程改革

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Enhanced electrochemical CO_(2)reduction coupled with urea oxidation using bifunctional atomically dispersed CuNi catalysts

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Nano Research 2025年第1期18卷 208-216页

作者： Wenjie Wu Haoyang Zhou Ying Liu Yifei Pan Qingqing Chen yu Zhang Junjie Mao Wenjie Ma ping yu Beijing National Laboratory for Molecular Sciences Key Laboratory of Analytical Chemistry for Living BiosystemsInstitute of ChemistryChinese Academy of Sciences(CAS)Beijing 100190China College of Chemistry and Materials Science Anhui Normal UniversityWuhu 241002China University of Chinese Academy of Sciences Beijing 100049China

The electrochemical conversion of carbon dioxide(CO_(2))into chemical fuels represents a promising approach for addressing global carbon balance ***,this process is hindered by the kinetic limitations of anodic reactions,usually the oxygen evolution reaction,resulting in less efficient production of high value-added ***,we report an integrated electrocatalytic system that couples CO_(2)reduction reaction(CO_(2)RR)with urea oxidation reaction(UOR)using a bifunctional electrocatalyst with atomically dispersed dual-metal CuNi sites anchored on bamboo-like nitrogen-doped carbon nanotubes(CuNi-CNT),which were synthesized through a one-step pyrolysis *** bifunctional CuNi-CNT catalyst exhibits a near 100%CO Faraday efficiency for CO_(2)RR over a wide potential range and outstanding UOR performance with a negatively shifted potential of 210 mV at 10 mA·cm^(-2).In addition,we assemble a two-electrode electrolyzer using bifunctional CuNi-CNT-modified carbon fiber paper electrodes as both cathode and anode,capable of operating at a remarkably low cell voltage of 1.81 V at 10 mA·cm-2,significantly lower than conventional *** study provides a novel avenue to achieving an efficient carbon cycle with reduced electric power consumption.

关键词： electrochemical conversion bimetallic site catalyst bifunctional electrocatalyst carbon dioxide reduction urea oxidation

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Clinical value of combining epirubicin with mindfulness intervention in patients with urinary system tumors and depression

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World Journal of Psychiatry 2025年第1期15卷 54-62页

作者： Juan Liu Yan-ping Guo Yan-mei Lu Bei-Lin Wang Department of Urology Surgery Zhumadian Central HospitalZhumadian 463000Henan ProvinceChina Department of Psychiatry Zhumadian Mental HospitalZhumadian 463000Henan ProvinceChina

BACKGROUND Urinary system tumors often cause negative psychological symptoms,such as depression and dysphoria which significantly impact immune function and indirectly affect cancer *** epirubicin(EPI)is recommended by the European Association of Urology and can improve prognosis,its long-term use can cause toxic side effects,reduce treatment compliance,and increase psycho-logical ***,an appropriate intervention mode is *** This was a retrospective study including 110 patients with urinary system tumors and depression admitted to Zhumadian Central Hospital between March 2021 and July *** were divided into conventional(n=55)and joint inter-vention(n=55)*** conventional group received mitomycin and routine nursing,while the joint intervention group received EPI and mindfulness *** groups underwent three cycles of *** function(CD4+cells,CD8+cells,CD4+/CD8+ratio),tumor marker levels[urinary bladder cancer antigen(UBC),bladder tumor antigen(BTA)and nuclear matrix protein 22(NMP22)],quality of life questionnaire-core 30(QLQ-C30),17-item Hamilton depression scale(HAMD-17),and cancer-related fatigue[cancer fatigue scale(CFS)]were *** reactions and nursing satisfaction were recorded and *** Post-intervention,CD4+,CD8+,and CD4+/CD8+levels increased in both groups,with the joint intervention group showing more significant improvement(P<0.05).Tumor marker levels(NMP22,BTA,and UBC)were lower in the joint intervention group compared to the conventional group(P<0.05).The joint intervention group also showed a greater reduction in HAMD-17 scores(9.38±3.12 vs 15.45±4.86,P<0.05),higher QLQ-C30 scores,and lower CFS scores(both P<0.05).Additionally,the joint intervention group had a lower incidence of adverse reactions and higher nursing satisfaction(P<0.05).CONCLUSION EPI combined with mindfulness intervention significantly improved clinical outcomes in patients with urinar

关键词： Urinary system tumor Bladder cancer Prostate cancer Depression Epirubicin

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