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Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease

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Stroke & Vascular Neurology 2022年第3期7卷 182-189页

作者： Mengmeng Shi Xinyi Leng Ying Li Zihan Chen Ye Cao Tiffany Chung Bonaventure YM Ip Vincent HL Ip Yannie OY Soo florence sy fan Sze Ho Ma Karen Ma Anne Y Y Chan Lisa WC Au Howan Leung Alexander Y Lau Vincent CT Mok Kwong Wai Choy Zirui Dong Thomas W Leung Department of Obstetrics and Gynaecology The Chinese University of Hong KongHong KongChina Key Laboratory for Regenerative Medicine Ministry of Education(Shenzhen Base)Shenzhen Research InstituteThe Chinese University of Hong KongShenzhenChina Hong Kong Hub of Paediatric Excellence The Chinese University of Hong KongHong KongChina Department of Medicine and Therapeutics The Chinese University of Hong KongPrince of Wales HospitalHong KongChina Department of Paediatrics The Chinese University of Hong KongHong KongChina The Chinese University of Hong Kong-Baylor College of Medicine Joint Center For Medical Genetics The Chinese University of Hong KongHong KongChina

Objectives The predisposition of intracranial atherosclerotic disease(ICAD)to East Asians over Caucasians infers a genetic basis which,however,remains largely *** prevalence of vascular risk factors(VRFs)in Chinese over Caucasian patients who had a stroke,and shared risk factors of ICAD with other stroke subtypes indicate genes related to VRFs and/or other stroke subtypes may also contribute to *** Unrelated symptomatic patients with ICAD were recruited for genome sequencing(GS,60-fold).Rare and potentially deleterious single-nucleotide variants(SNVs)and small insertions/deletions(InDels)were detected in genome-wide and correlated to genes related to VRFs and/or other stroke *** aneuploidies,copy number variants(CNVs)and chromosomal structural rearrangements were also ***,candidate genes were used for pathway and gene ontology enrichment *** Among 92 patients(mean age at stroke onset 61.0±9.3 years),GS identified likely ICAD-associated rare genomic variants in 54.3%(50/92)of ***-eight patients(52.2%,48/92)had 59 rare SNVs/InDels reported or predicted to be deleterious in genes related to VRFs and/or other stroke *** of the 59 rare variants were identified in local subjects without ICAD(n=126).31 SNVs/InDels were related to conventional VRFs,and 28 were discovered in genes related to other stroke *** study also showed that rare CNVs(n=7)and structural rearrangement(a balanced translocation)were potentially related to ICAD in 8.7%(8/92)of ***,candidate genes were significantly enriched in pathways related to lipoprotein metabolism and cellular lipid catabolic *** Our GS study suggests a role of rare genomic variants with various variant types contributing to the development of ICAD in Chinese patients.

关键词： patients metabolism intracranial

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Semaphorin7A:its role in the control of serotonergic circuits and functional recovery following spinal cord injury

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Neural Regeneration Research 2022年第5期17卷 959-962页

作者： Julie Fourneau florence M.Bareyre Institute of Clinical Neuroimmunology Ludwig-Maximilians Universität MünchenMunichGermany Munich Cluster of systems Neurology(syNergy) MunichGermany

Serotonin is a monoamine neurotransmitter synthetized in various populations of brainstem *** the spinal cord,descending serotonergic projections regulate postural muscle tone,locomotion and rhythm and coordination of movements via the Central Pattern *** a spinal cord injury,serotonergic projections to the lumbar spinal cord,where the Central Pattern Generators are located,are interrupted resulting in devastating locomotor impairments and changes in the expression and activation of serotonin and its spinal *** molecular cues that control the precise patterning and targeting of serotonergic inputs onto Central Pattern Generator networks in healthy animals or after injury are still *** our recent research work,we have been particularly interested in Semaphorin7A,which belongs to the Semaphorins family involved in guiding growing axons and controlling plasticity of synaptic *** this review,we discuss the role of Semaphorin7A signaling as an important molecular actor that instructs the patterning of serotonin inputs to spinal Central Pattern Generator *** show that Semaphorin7A controls the wiring of descending serotonin axons in the spinal *** results reveal that mistargetting of serotonin fibers in the spinal cord is compensated in healthy uninjured Semaphorin7A deficient mice so that their gross locomotion proceeds *** also demonstrate that when the system is challenged with a spinal lesion,the pattern of post-injury serotonin expression is significantly altered in Semaphorin7A deficient mice with specific ectopic targeting of serotonin fibers in the lumbar spinal *** mechanisms in place in uninjured Semaphorin7A deficient mice are lost and injured Semaphorin7A deficient mice exhibit a worsening of their post-injury locomotor *** findings identify Semaphorin7A as a critical determinant of serotonergic circuit formation in healthy or spinal cord injured mice.

关键词： central pattern generator guidance molecule locomotion recovery rewiring semaphorin7A serotonergic patterning serotonin spinal cord injury

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Regulation of axonal remodeling following spinal cord injury

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Neural Regeneration Research 2015年第10期10卷 1555-1557页

作者： Anne Jacobi florence M.Bareyre Institute of Clinical Neuroimmunology Ludwig-Maximilians Universit?t München Munich Cluster of systems Neurology (sy Nergy)

Central nervous system injuries,such as spinal cord injury（SCI）,are a leading cause of disability in young *** generally have severe clinical consequences and often lead to loss of motor or sensory input below the s... 详细信息

关键词： Regulation of axonal remodeling following spinal cord injury STAT FGFR Figure CST

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Risk stratification in symptomatic intracranial atherosclerotic disease with conventional vascular risk factors and cerebral haemodynamics

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Stroke & Vascular Neurology 2023年第1期8卷 77-85页

作者： Xuan Tian Hui fang Linfang Lan Hing Lung Ip Jill Abrigo Haipeng Liu Lina Zheng florence S Y fan Sze Ho Ma Bonaventure Ip Bo Song Yuming Xu Jingwei Li Bing Zhang Yun Xu Yannie O Y Soo Vincent Mok Ka Sing Wong Thomas W Leung Xinyi Leng Department of Medicine and Therapeutics The Chinese UniversityHong KongChina Department of Neurology The First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenanChina Department of Neurology The First Affiliated Hospital of Sun Yat-sen UniversityGuangzhouGuangdongChina Department of Imaging and Interventional The Chinese UniversityHong KongChina Research Centre of Intelligent Healthcare Faculty of Health and Life ScienceCoventry UniversityCoventryUK Department of Neurology Nanjing University Medical School Affiliated Nanjing Drum Tower HospitalNanjingJiangsuChina Department of Radiology Nanjing University Medical School Affiliated Nanjing Drum Tower HospitalNanjingJiangsuChina

Background and purpose symptomatic intracranial atherosclerotic stenosis(sICAS)is associated with a considerable risk of recurrent stroke despite contemporarily optimal medical *** of luminal stenosis in sICAS and its haemodynamic significance quantified with computational fluid dynamics(CFD)models were associated with the risk of stroke *** aimed to develop and compare stroke risk prediction nomograms in sICAS,based on vascular risk factors and these *** Patients with 50%-99%sICAS confirmed in CT angiography(CTA)were *** vascular risk factors were *** of luminal stenosis in sICAS was dichotomised as moderate(50%-69%)and severe(70%-99%).Translesional pressure ratio(PR)and wall shear stress ratio(WSSR)were quantified via CTA-based CFD modelling;the haemodynamic status of sICAS was classified as normal(normal PR&WSSR),intermediate(otherwise)and abnormal(abnormal PR&WSSR).All patients received guideline-recommended medical *** developed and compared performance of nomograms composed of these variables and independent predictors identified in multivariate logistic regression,in predicting the primary outcome,recurrent ischaemic stroke in the same territory(SIT)within 1 *** Among 245 sICAS patients,20(8.2%)had *** D2H2A nomogram,incorporating diabetes,dyslipidaemia,haemodynamic status of sICAS,hypertension and age≥50 years,showed good calibration(P for Hosmer-Lemeshow test=0.560)and discrimination(C-statistic 0.73,95%CI 0.60 to 0.85).It also had better performance in risk reclassification and provided larger net benefits in decision curve analysis,compared with nomograms composed of conventional vascular risk factors only,and plus the severity of luminal stenosis in *** analysis in patients with anterior-circulation sICAS showed similar *** The D2H2A nomogram,incorporating conventional vascular risk factors and the haemodynamic significance of sICAS a

关键词： intracranial otherwise stratification

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Historical trends in the anthropogenic heavy metal levels in the tidal flat sediments of Lianyungang, China

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Journal of Environmental Sciences 2013年第7期25卷 1458-1468页

作者： Rui Zhang fan Zhang Yingjun Ding Jinrong Gao Jing Chen Li Zhou School of Geodesy and Geomatics Engineering Huaihai Institute of Technology State Key Laboratory of Pollution Control and Resources Reuse Nanjing University Jiangsu Marine Resources Development Research Institute Huaihai Institute of Technology

The sedimentation of metals can preserve the historical record of contaminant input from local and regional sources and provide information on the historical changes in regionalwater and sediment quality. We report the 210Pb activities and the heavy metal （Cd, Cr, Cu, Mn, Pb and Zn）depth profiles from sediment cores retrieved in 2010. The mean sedimentation rates of 0.85-1.5 cm/yr aredetermined by 210 Pbdating. The sediments in the tidal flat have recorded heavy metaldeposition and thus allow the establishment of a connection between the temporal evolution of the heavy metal pollution and the historical changes in the economicdevelopment of Lianyungang. The enrichment factors （EF） are calculated to estimate the level of contamination stored in these sediments. The results show that in the studied sites, Cr and Cudisplay low EF values and are mainly from lithogenic origin. For the other studied trace metals, a great variability in the sedimentary record is observed. Significant anthropogenic enrichment over the last 50 years is revealed at the tidal flat that receives fluvial inputs. Zinc is the elementwith the highest EF values, followed by the order of Pb 〉 Cd 〉 Mn 〉 Cu and Cr. The temporal variations of the heavy metals peakduring the late 1980s to the early2000s and show adecreasing trend afterward. The pollution intensity of the tidal flat isdetermined by using EF and thegeo-accumulation index （Igeo ）,which show that, based on the Igeo scale, the tidal flat of Haizhou Bay is unpolluted to moderately polluted.

关键词： sediment rates heavy metals pollution anthropogenic input tidal flat

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Analysis of Global CCS Technology,Regulations and Its Potential for Emission Reduction with Focus on China

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Advances in Climate Change Research 2011年第2期2卷 57-66页

作者： Ying fan Lei Zhu Xiaobing Zhang Center for Energy ＆ Environmental Policy Research Institute of Policy ~ Management Chinese Academy of Sciences Beijing 100190 China

This paper introduces the development of Carbon Capture and Storage （CCS） technology, the progress in CCS demonstration projects, and regulations and policies related to CCS. Barriers and limitations for the large-scale deployment of CCS are discussed. CCS and different technological solutions for emission reduction （e.g., energy conservation and renewable energy） are compared. The analysis shows that China should carefully evaluate the negative impacts of CCS deployment and needs to enhance the research and development input in CCS in order to master core technologies of CCS systems. Furthermore, CCS incentives should depend on actual CCS development. Based on the current situation, China may need to focus on retrofitting existing thermal power plants with CCS technology, so CCS can be promoted for future large-scale application.

关键词： CCS technology climate change emission reduction policies and regulations

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Effects of drying methods on the structure and emulsifying capacity of egg yolk lecithin

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International Journal of Agricultural and Biological Engineering 2020年第4期13卷 238-244页

作者： Xiting Bai Jiaqi Gao Yu Yang Wenxue Zhu Jinling fan College of Food and Bioengineering Henan University of Science and TechnologyLuoyangHenan 471003China

The purpose of this study was to investigate the effects of different drying methods,including ultrasonic vacuum drying,vacuum drying,vacuum freeze-drying,hot-air drying and spray drying,on the structure and emulsifying capacity of egg yolk lecithin based on Raman *** results showed that ultrasonic vacuum drying and spray drying can induce the vibration of C-N bonds in the polar O-C-C-N^(+)head skeleton of egg yolk *** shift of the peak attributed to the C-N bond from 717 cm^(−1)to 774 and 772 cm^(−1)indicated that the vibration of some C-N bonds in the O-C-C-N^(+)skeleton had transformed from gauche to *** vacuum drying exerted the most intense effect on the C-C skeleton of egg yolk lecithin,with the greatest vibration peaks at 1062 cm^(−1),1128 cm^(−1),and 1097 cm^(−1)in the Raman spectra of egg ***,it relieved gauche vibration and strengthened trans vibration in the C-C ***,the I_(gauche)/I_(trans)ratio of the egg yolk lecithin processed through ultrasonic vacuum drying *** vacuum drying and spray drying decreased the I_(2850)/I_(2878)ratio of the vibration peak of C-H bonds in the lipid chains of egg yolk *** weakening of the symmetric stretching vibration of the C-H bond and the strengthening of antisymmetric stretching vibration indicated that orderliness among the molecular chains of lipid bilayer membranes had increased,whereas liquidity had *** emulsifying capacities were highly significantly different among various egg yolk lecithin samples,in which the highest emulsifying capacity(49.58 m^(2)/g)was shown for the egg yolk lecithin prepared through vacuum freeze-drying,and ultrasonic vacuum drying produced the lowest emulsifying capacity(14.77 m^(2)/g).This study demonstrated that ultrasonic vacuum drying and spray drying drastically affected the structure of egg yolk *** appropriate drying method can be selected based on sample volume and production situati

关键词： drying structure emulsification capacity egg yolk lecithin Raman spectrum

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Exocytosis determination of SH-sy5Y single cell stimulated by diff erent stimulants on indium tin oxide (ITO) micro-pore electrode

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BIOCELL 2013年第3期37卷 77-83页

作者： Hui ZHAO fan ZHANG Ling LI Pingang HE Yuzhi fanG Department of Chemistry East China Normal UniversityShanghaiChina Department of Chemistry Zhoukou Normal UniversityZhoukouChina

The human neuroblastoma SH-sy5Y cell line has been used as a model to study mechanisms of neurotransmitter *** order to study the mechanism of SH-sy5Y single cell exocytosis stimulated by different stimulants,including high K+,3-(1-nitroso-2-pyrrolidinyl)pyridine and nicotine,a type of indium tin oxide(ITO)micro-pore electrode was used to obtain the corresponding amperometric response *** the cell is stimulated by 0.1 M K+,almost immediate exocytosis could be detected,due to the rapid depolarization of cell ***,the stimulations with 1 mM nicotine and 3-(1-nitroso-2-pyrrolidinyl)pyridine result in a short delay between stimulation and exocytosis,which can be correlated with the time needed for binding of the stimulant to the nicotinic acetylcholine(ACh)receptor and the induction of post-binding ***,the response time of SH-sy5Y single cell exocytosis is significantly affected by the exocytosis mechanisms.

关键词： amperometric monitoring microelectrodes mechanism response time

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ClC-3 chloride channel in hippocampal neuronal apoptosis

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Neural Regeneration Research 2013年第32期8卷 3047-3054页

作者： Lijuan Xu Shuling Zhang Hongling fan Zhichao Zhong Xi Li Xiaoxiao Jin Quanzhong Chang Department of Physiology Zhuhai Campus of Zunyi Medical College First Hospital of Putian City Department of Pediatrics Zhuhai Campus of Zunyi Medical College

Over-production of nitric oxide is pathogenic for neuronal apoptosis around the ischemic area fol- lowing ischemic brain injury. In this study, an apoptotic model in rat hippocampal neurons was es- tablished by 0.5 mmol/L 3-morpholinosyndnomine （SIN-l）, a nitric oxide donor. The models were then cultured with 0.1 mmol/L of 4,4＇-diisothiocyanostilbene-2,2＇-disulfonic acid （DIDS; the chloride channel blocker）for 18 hours. Neuronal survival was detected using the 3-（4,5-dimethylthiazol- 2-yl）-2,5-diphenyltetrazolium bromide （MTT） assay, and apoptosis was assayed by Hoechst 33342-labeled neuronal DNA fluorescence staining. Western blot analysis and immunochemilumi- nescence staining were applied to determine the changes of activated caspase-3 and CIC-3 channel proteins. Real-time PCR was used to detect the mRNA expression of CIC-3. The results showed that SIN-1 reduced the neuronal survival rate, induced neuronal apoptosis, and promoted CIC-3 chloride channel protein and mRNA expression in the apoptotic neurons. DIDS reversed the effect of SIN-I. Our findings indicate that the increased activities of the CIC-3 chloride channel may be involved in hippocampal neuronal apoptosis induced by nitric oxide.

关键词： neural regeneration brain injury nitric oxide CIC-3 chloride channel 3-morpholinosyndnomine 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid hippocampal neurons apoptosis grants-supportedpaper neuroregeneration

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Evaluation of Tubal Patency with Transvaginal Three-dimensional Hysterosalpingo-contrast Sonography

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Chinese Medical Sciences Journal 2015年第2期30卷 70-75页

作者： Qi Cheng Sha-sha Wang Xian-sheng Zhu fan Li Department of Ultrasonography Guangzhou General Hospital of Guangzhou Military Command of People's Liberation Army

Objective To investigate diagnostic efficacy of transvaginal three-dimensional hysterosalpingo-contrast sonography(3D-Hy Co sy) in assessing tubal patency with chromolaporoscopy. Methods A total of 157 infertile women underwent 3D-Hy Co sy to evaluate tubal patency. Among these patients, 39 patients were also examined by chromolaporoscopy. The concordance of the two clinical assessment methods was analyzed by the Kappa coefficient test. Results Among the 306 oviducts examined by 3D-Hy Co sy, 99(32.4%) were patent, 126(41.2%) partially obstructed, and 81(26.5%) completely obstructed. Diagnostic results with 3D-Hy Co sy were not statistically different from those obtained in the 39 women(78 oviducts) who also underwent chromolaporoscopy, and the two methods showed a high concordance(κ=0.747, P=0.000). The 3D-Hy Co sy procedure had a sensitivity of 84.8%(28/33), a specificity of 96.2%(25/26), and positive and negative predictive values of 93.3%(28/30) and 86.2%(25/29) respectively. Conclusion Transvaginal 3D-Hy Co sy can accurately reveal the spatial path and morphology of the oviduct and is a safe and effective method to evaluate tubal patency.

关键词： contrast-enhanced sonography three-dimensional construction oviduct infertility

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