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Variable phenotypes and outcomes associated with the MMACHC c.482G>A mutation:follow-up in a large CblC disease cohort

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World Journal of Pediatrics 2024年第8期20卷 848-858页

作者： Sheng-Nan Wu Hui-Shu E Yue Yu Shi-Ying Ling Li-Li Liang Wen-Juan Qiu Hui-Wen Zhang Rui-Xue Shuai Hai-Yan Wei Chi-Ju yang Peng Xu Xi-gui Chen Hui Zou ji-Zhen Feng Ting-Ting Niu Hai-Li Hu Kai-Chuang Zhang De-Yun Lu Zhu-Wen Gong Xia Zhan Wen-Jun ji Xue-Fan gu Yong-Xing Chen Lian-Shu Han Department of Endocrinology and Metabolism Henan Key Laboratory of Children’s Genetics and Metabolic DiseasesChildren’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalNo.255 Gangdu StreetZhengzhouChina Department of Pediatric Endocrinology and Genetics Fujian Children’s HospitalFuzhouChina The Center for Pediatric Liver Diseases Children’s HospitalFudan UniversityShanghaiChina Department of Pediatric Endocrinology/Genetics Shanghai Institute for Pediatric ResearchXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityNo.1665 Kongjiang RoadShanghaiChina Department of Pediatrics Second Affiliated Hospital of Naval Medical UniversityShanghaiChina Center of Neonatal Disease Screening Jining Maternal and Child Health Care HospitalJiningChina Center of Neonatal Disease Screening Jinan Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care HospitalShijiazhuangChina Center of Neonatal Disease Screening Shandong Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Hefei Maternal and Child Health Care HospitalHefeiChina

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC *** We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous *** control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A *** features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in *** median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 *** Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling *** hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this *** 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio

关键词： c.482G>A CblC disease MMACHC gene Newborn screening Outcome Use our pre-submission checklist Avoid common mistakes on your manuscript.

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选区激光熔融制备FeCoCrNiMn-(N,Si)高熵合金在冷轧变形及500℃长时间退火后的析出行为

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中南大学学报（自然科学版） 2024年第8期55卷 3014-3021页

作者：张忠伦顾及宋旼中南大学粉末冶金国家重点实验室湖南长沙410083 中国建材集团科技创新研究院山东枣庄277100

对选区激光熔融制备的FeCoCrNiMn-(N,Si)高熵合金先进行冷轧变形,然后在500℃进行长时间退火处理,研究长时间退火对其相稳定性及微观组织演变的影响。研究结果表明,在退火温度为500℃,退火时间为10~40 d时,合金基体内形成了3种类型的沉... 详细信息

对选区激光熔融制备的FeCoCrNiMn-(N,Si)高熵合金先进行冷轧变形,然后在500℃进行长时间退火处理,研究长时间退火对其相稳定性及微观组织演变的影响。研究结果表明,在退火温度为500℃,退火时间为10~40 d时,合金基体内形成了3种类型的沉淀析出物(Cr_(2)N相、BCC-Cr相和L1_(0)-NiMn相),且氮原子的添加抑制了富FeCo相的形成;当退火时间从10 d增加到20 d时,沉淀物的尺寸显著增加。然而,当退火时间进一步增加到40 d时,沉淀物颗粒不长大,其尺寸保持不变。

关键词：高熵合金氮掺杂析出相选区激光熔融冷轧退火处理

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Nanomaterials-mediated lysosomal regulation:a robust protein-clearance approach for the treatment of Alzheimer’s disease

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Neural Regeneration Research 2025年第2期20卷 424-439页

作者： Mengqi Hao jianjian Chu Tinglin Zhang Tong Yin Yuankai gu Wendanqi Liang Wenbo ji jianhua Zhuang Yan Liu jie Gao You Yin Department of Neurology Second Affiliated Hospital of Naval Medical University(Shanghai Changzheng Hospital)ShanghaiChina School of Health Science and Engineering University of Shanghai for Science and TechnologyShanghaiChina Changhai Clinical Research Unit Shanghai Changhai HospitalNaval Medical UniversityShanghaiChina Department of Clinical Pharmacy Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghaiChina Department of Neurology Shanghai East HospitalSchool of MedicineTongji UniversityShanghaiChina

Alzheimer’s disease is a debilitating,progressive neurodegenerative disorder characterized by the progressive accumulation of abnormal proteins,including amyloid plaques and intracellular tau tangles,primarily within the ***,crucial intracellular organelles responsible for protein degradation,play a key role in maintaining cellular *** studies have suggested a link between the dysregulation of the lysosomal system and pathogenesis of neurodegenerative diseases,including Alzheimer’s *** the normal physiological function of lysosomes hold the potential to reduce the pathological burden and improve the symptoms of Alzheimer’s ***,the efficacy of drugs in treating Alzheimer’s disease is limited,with major challenges in drug delivery efficiency and ***,nanomaterials have gained widespread use in Alzheimer’s disease drug research owing to their favorable physical and chemical *** review aims to provide a comprehensive overview of recent advances in using nanomaterials(polymeric nanomaterials,nanoemulsions,and carbon-based nanomaterials)to enhance lysosomal function in treating Alzheimer’s *** review also explores new concepts and potential therapeutic strategies for Alzheimer’s disease through the integration of nanomaterials and modulation of lysosomal *** conclusion,this review emphasizes the potential of nanomaterials in modulating lysosomal function to improve the pathological features of Alzheimer’s *** application of nanotechnology to the development of Alzheimer’s disease drugs brings new ideas and approaches for future treatment of this disease.

关键词： Alzheimer’s disease autophagy dysfunction lysosomal acidification lysosomal system nanomaterials neurodegenerative diseases

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The effect of"rural cultural auditorium"on the revitalization of rural culture:A case study of villages A and B in Zhejiang Province

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Ecological Economy 2024年第2期20卷 188-199页

作者： HAN ji-yun LV Xiao DONG Meng-ke PEI Yan-fang gu Ya-qing Qianjiang College Hangzhou Normal UniversityHangzhou 310018CHINA

The construction of rural cultural auditorium is conducive to gathering local popularity,excavating history and continuing civilization,and it has become a powerful driving force for cultural revitalization in rural ***,the development of"Rural Cultural Auditorium"encountered many problems so *** the perspective of rural cultural revitalization,and under the background of the new socialist rural cultural construction in China,this paper takes the rural cultural auditorium as the *** field questionnaire survey and semi-structured interview were constructed in Village A and Village B of Zhejiang Province,.SPSS software is used to analyze the collected questionnaire *** the basis of combing related concepts and theories,it summs up the problems of"rural cultural auditorium",such as the existence of cultural auditorium,low participation rate of cultural auditorium activities,poor information communication,*** visiting and investigating,going deep into the local area,according solutions are put forward such as increasing content diversity,paying attention to publicity and increasing interaction,so as to promote the healthy and sustainable development of rural cultural *** is hoped that this paper will explore the significance of the construction of rural cultural auditorium to the revitalization of rural culture in China,and put forward ideas on how to further build rural cultural auditorium,so as to provide reference for rural cultural construction services.

关键词： rural cultural auditorium rural revitalization cultural revitalization

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F127 assisted fabrication of Ge/r GO/CNTs nanocomposites with three-dimensional network structure for efficient lithium storage

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Chinese Chemical Letters 2024年第9期35卷 447-451页

作者： Hui gu Mingyue Gao Kuan Shen Tianli Zhang Junhao Zhang Xiangjun Zheng Xingmei guo Yuanjun Liu Fu Cao Hongxing gu Qinghong Kong Shenglin Xiong School of Environmental and Chemical Engineering Jiangsu University of Science and TechnologyZhenjiang 212003China Key Laboratory of the Colloid and Interface Chemistry Ministry of EducationSchool of Chemistry and Chemical EngineeringShandong UniversityJi’nan 250100China jiangsu Hengshen Co. Ltd.Zhenjiang 212314China School of the Environment and Safety engineering Jiangsu UniversityZhenjiang 212013China

To solve the volume expansion and poor electrical conductivity of germanium-based anode materials,Ge/rGO/CNTs nanocomposites with three-dimensional network structure are fabricated through the dispersion of polyethylene-polypropylene glycol(F127)and reduction of *** interesting phenomenon is discovered that F127 can break GeO_(2)polycrystalline microparticles into 100 nm nanoparticles by only physical interaction,which promotes the uniform dispersion of GeO_(2)in a carbon network structure composed of graphene(rGO)and carbon nanotubes(CNTs).As evaluated as anode material of Lithium-ion batteries,Ge/rGO/CNTs nanocomposites exhibit excellent lithium storage *** initial specific capacity is high to 1549.7 mAh/g at 0.2 A/g,and the reversible capacity still retains972.4 mAh/g after 100 *** improved lithium storage performance is attributed to that Ge nanoparticles can effectively slow down the volume expansion during charge and discharge processes,and threedimensional carbon networks can improve electrical conductivity and accelerate lithium-ion transfer of anode materials.

关键词： F127 assisted fabrication Ge/rGO/CNTs nanocomposites Three-dimensional carbon network Lithium-ion batteries Cycle stability

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基于区块链的多价值链协同数据共享方法

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计算机集成制造系统 2024年第10期30卷 3643-3657页

作者：张今顾复顾新建纪杨建李琳利郑范瑛浙江大学机械工程学院工业工程研究所

针对基于第三方云平台多价值链协同过程中存在数据描述不统一、数据易被篡改、数据资源共享主体之间缺乏信任等问题，提出一种基于区块链技术的多价值链协同数据共享方法。首先提出基于区块链技术的第三方云平台多价值链协同数据共享框... 详细信息

针对基于第三方云平台多价值链协同过程中存在数据描述不统一、数据易被篡改、数据资源共享主体之间缺乏信任等问题，提出一种基于区块链技术的多价值链协同数据共享方法。首先提出基于区块链技术的第三方云平台多价值链协同数据共享框架，该架构由数据源层、数据集成层、区块链服务层、多价值链协同数据共享层、多价值链协同服务层组成；然后提出面向多价值链协同数据集成与共享的数据资源元数据模型与建立方法；接着阐述了多价值链协同数据上链机制以及数据集成上链与共享过程；最后通过面向汽车行业多价值链协同维修服务的数据共享真实案例，验证了所提方法的有效性。区块链透明公平、可追溯、不可篡改的特点以及加密算法可以保障数据资源共享过程安全可信，更好地促进多价值链协同服务发展。

关键词：多价值链协同区块链数据共享信任机制第三方云平台元数据汽车维修

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Health risks of pest control and disinfection workers after the COVID-19 outbreak in South Korea

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Journal of Environmental Sciences 2024年第5期139卷 350-363页

作者： Yun-Hee Choi Da-An Huh Lita Kim Sang ji Lee Kyong Whan Moon Department of Health and Safety Convergence Science Korea UniversityAnam-ro 145Seongbuk-guSeoul 02841South Korea BK21 FOUR R&E Center for Learning Health System Korea UniversityAnam-ro 145Seongbuk-guSeoul 02841South Korea Institute of Sciences Korea UniversityAnam-ro 145Seongbuk-guSeoul 02841South Korea Department of Health and Environmental Science Korea UniversityAnam-ro 145Seongbuk-guSeoul 02841South Korea

The exposure patterns of pest control and disinfection workers have changed after the coronavirus disease 2019(COVID-19)outbreak,but the health risks of chemical exposure have not been *** identified these workers’chemical exposure patterns and risks before and after the COVID-19 *** used data conducted between 2018(pre-pandemic)and 2021(post-pandemic)from three-year cross-sectional surveys on pest control and disinfection *** and dermal exposure concentrations were estimated using equations based on a biocidal product risk assessment model from the Korean National Institute of Environmental *** non-carcinogenic and carcinogenic risks of chemicals were calculated using the United States Environmental Protection Agency risk assessment *** found that the annual work frequency(50^(th)percentile)of foggers using disinfectants increased the most among all the work types,from 140 uses/year to 176 uses/year after the COVID-19 ***,all chemicals’non-carcinogenic and carcinogenic risks increased regardless of exposure *** the worst scenario(95^(th)percentile),the margin of exposure for citric acid,benzethonium chloride,benzyl-C12-16-alkyldimethyl chlorides,and sodium chlorite of inhalation exposure,and isopropyl alcohol and benzyl-C12-16-alkyldimethyl chlorides of dermal exposure were acceptable(>100)before the COVID-19outbreak but became unacceptable(10^(-6))before and after the COVID-19 outbreak but comparatively high after the COVID-19 ***,significantly more workers experienced health symptoms after the COVID-19outbreak(p<0.05),with the most common being muscle lethargy(31%),skin/face stinging(28.7%),and breath shortness/neck pain(24.1%).

关键词： Biocide Disinfection Health risk assessment Occupational exposure Pest control

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GRK2-YAP signaling is implicated in pulmonary arterial hypertension development

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Chinese Medical Journal 2024年第7期137卷 846-858页

作者： Peng Ye Yunfei Deng Yue gu Pengfei Liu jie Luo jiangqin Pu jingyu Chen Yu Huang Nanping Wang Yong ji Shaoliang Chen Division of Cardiovascular Molecular Laboratory Third Clinical CollegeNanjing Medical UniversityNanjingJiangsu 210006China Division of Cardiovascular Laboratory Nanjing First HospitalNanjing Medical UniversityNanjingJiangsu 210006China Division of Cardiology Shanghai General HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200080China Division of Pulmonary Surgery Wuxi People’s HospitalNanjing Medical UniversityWuxiJiangsu 300247China Institute of Vascular Medicine The Chinese University of Hong KongHongkong 999077China Health Science Center East China Normal UniversityShanghai 200241China School of Pharmacy Nanjing Medical UniversityNanjingJiangsu 210004China Division of Cardiology Nanjing First HospitalNanjing Medical UniversityNanjingJiangsu 210006China

Background:Pulmonary arterial hypertension(PAH)is characterized by excessive proliferation of small pulmonary arterial vascular smooth muscle cells(PASMCs),endothelial dysfunction,and extracellular matrix remodeling.G protein-coupled receptor kinase 2(GRK2)plays an important role in the maintenance of vascular tone and blood ***,the role of GRK2 in the pathogenesis of PAH is ***:GRK2 levels were detected in lung tissues from healthy people and PAH patients.C57BL/6 mice,vascular smooth muscle cell-specific Grk2-knockout mice(Grk2^(∆SM22)),and littermate controls(Grk2^(flox/flox))were grouped into control and hypoxia mice(n=8).Pulmonary hypertension(PH)was induced by exposure to chronic hypoxia(10%)combined with injection of the SU5416(cHx/SU).The expression levels of GRK2 and Yes-associated protein(YAP)in pulmonary arteries and PASMCs were detected by Western blotting and immunofluorescence *** mRNA expression levels of Grk2 and Yes-associated protein(YAP)in PASMCs were quantified with real-time polymerase chain reaction(RT-PCR).Wound-healing assay,3-(4,5)-dimethylthiahiazo(-z-y1)-3,5-di-phenytetrazoliumromide(MTT)assay,and 5-Ethynyl-2′-deoxyuridine(EdU)staining were performed to evaluate the proliferation and migration of ***,the interaction among proteins was detected by immunoprecipitation ***:The expression levels of GRK2 were upregulated in the pulmonary arteries of patients with PAH and the lungs of PH ***,cHx/SU-induced PH was attenuated in Grk2^(∆SM22) mice compared with littermate *** amelioration of PH in Grk2^(∆SM22) mice was accompanied by reduced pulmonary vascular *** vitro study further confirmed that GRK2 knock-down significantly altered hypoxia-induced PASMCs proliferation and migration,whereas this effect was severely intensified by overexpression of *** also identified that GRK2 promoted YAP expression and nuclear translocation in PASMCs,resulting in excessive PA

关键词： Pulmonary arterial hypertension GRK2 YAP Pulmonary artery smooth muscle cell Hypoxia

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Intelligent reflecting surface for sum rate enhancement in MIMO systems

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Digital Communications and Networks 2024年第1期10卷 94-100页

作者： Chan-Yeob Park ji-Sung Jung Yeong-Rong Lee Beom-Sik Shin Hyoung-Kyu Song Department of Information and Communication Engineering Sejong UniversitySeoulGwangjin-guGunja-dong 98Republic of Korea Department of Convergence Engineering for Intelligent Drone Sejong University SeoulGwangjin-guGunja-dong 98Republic of Korea

The research for the Intelligent Reflecting Surface(IRS)which has the advantages of cost and energy efficiency has been *** capacity can be effectively increased by appropriately setting the phase value of IRS elements according to the channel ***,the problem of obtaining an appropriate phase value of IRs is difficult to solve due to the non-convex *** paper proposes an iterative algorithm for the alternating optimal solution in the Single User Multiple-Input-Multiple-Output(SU-MIMO)*** proposed iterative algorithm finds an alternating optimal solution that is the phase value of IRS one by *** results show that the proposed method has better performance than that of the randomized IRS *** number of iterations for maximizing the performance of the proposed algorithm depends on the channel state between the IRS and the receiver.

关键词： Intelligent reflecting surface MIMO Sum rate

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《十字路口》:乔纳森·弗兰岑对战后治疗文化的道德质询

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外语导刊 2024年第4期47卷 39-47,159页

作者：谷伟潘基宏北京外国语大学英语学院北京100089/国防科技大学外国语学院江苏南京210039 国防科技大学外国语学院江苏南京210039

《十字路口》回溯20世纪70年代,展现了战后美国的精神虚无。援引查尔斯·泰勒有关现代身份认同的框架理论可知,弗兰岑将危机溯源至超验罪责观与治疗文化的权威易位。通过笔下人物在不同视域下应对负罪感的差异,弗兰岑揭示了治疗文化破... 详细信息

《十字路口》回溯20世纪70年代,展现了战后美国的精神虚无。援引查尔斯·泰勒有关现代身份认同的框架理论可知,弗兰岑将危机溯源至超验罪责观与治疗文化的权威易位。通过笔下人物在不同视域下应对负罪感的差异,弗兰岑揭示了治疗文化破坏道德能动性与共同体生活,从伦理变迁入手检视了当下美国极端个人主义滥觞的文化根源。

关键词：乔纳森·弗兰岑十字路口治疗文化道德能动性共同体

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