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Human neuroblastoma cells transfected with two Chinese presenilin 1 mutations are sensitized to trophic factor withdrawal and protected by insulin-like growth factor-1

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Chinese Medical Journal 2008年第10期121卷 910-915页

作者： FANG Bo-yan jia jian-ping Department of Neurology First Affiliated Hospital of Liaoning Medical University Jinzhou Liaoning 121001 China Department of Neurology Xuanwu Hospital Capital Medical University Neurodegenerative Lab of Ministry of Education of the People's Republic of China Beijing 100053 China

Background Two novel presenilin 1 （PS1） mutations, V97L and A136G, were recently found to be involved in the early-onset of Alzheimer＇s disease in two Chinese families. This research aimed to verity their pathological effects. Methods The human neuroblastoma SH-SY5Y cells stably transfected with these two Chinese presenilin 1 mutations were established to explore whether they are sensitive to, or influenced by, serum deprivation and protected by insulin-like growth factor-1 （IGF-1）. Apoptosis rate, glucose uptake of the cells and the expression of glucose transport protein 1 （GLUT1） on cell membranes were examined. Results The V97L or A136G mutants significantly decreased the cells viability and increased the apoptosis rate when compare to PSlwt and mock transfected cells. IGF-1 was found to improve the viability of these two kinds of mutant cells significantly, and to show a protective effect for the mutants when they were treated with trophic deprivation. The glucose uptake of each transfected cell line increased to about 25% after IGF-1 treatment, GLUT1 expression on the cell membrane increased modestly by about 15%-20%. Conclusions Enhanced sensitivity to trophic withdrawal in the cells transfected with the two Chinese PS1 mutations may contribute to the neuron apoptosis, IGF-1 provided a protective effect to cells, possibly through an enhanced glucose transport and mitochondrial activities.

关键词： Alzheimer disease presenilin 1 mutation apoptosis insulin-like growth factor 1

Cardioembolic occlusion of the internal carotid artery presented with infarction in the posterior cerebral artery territory

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Chinese Medical Journal 2010年第22期123卷 3375-3376页

作者： XUE Su-fang jia jian-ping Department of Neurology Xuanwu Hospital Capital Medical University Beijing 100053 China

Posterior circulation stroke may rarely be associated with occlusive disease in the anterior circulation, such as in the context of a direct （fetal） origin of the posterior cerebral artery （PCA） from the internal carotid artery （ICA）, or in the presence of a persistent trigeminal artery （PTA） or persistent hypoglossal artery （PHA）. Usually, they happened as infarction involving both ipsilateral carotid and posterior cerebral artery territories with carotid atherosclerosis etiology.3 Here, we reported a rare case with cadioembolic occlusion of the ICA presented with infarction mainly in the PCA territory.

关键词： carotid artery, internal cardioembolic occlusion posterior circulation stroke

Resistance of barley varieties to Heterodera avenae in the Qinghai–Tibet Plateau,China

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Journal of Integrative Agriculture 2022年第5期21卷 1401-1413页

作者： YAN jia-hui jia jian-ping jianG Li-ling PENG De-liang LIU Shi-ming HOU Sheng-ying YU Jing-wen LI Hui-xia HUANG Wen-kun Key Laboratory of Agricultural Integrated Pest Management Qinghai Academy of Agriculture and Forestry SciencesXining 810016P.R.China State Key Laboratory for Biology of Plant Diseases and Insect Pests/Institute of Plant Protection Chinese Academy of Agricultural SciencesBeijing 100193P.R.China College of Plant Protection Gansu Agricultural UniversityBiocontrol Engineering Laboratory of Crop Diseases and Pests of Gansu ProvinceLanzhou 730070P.R.China

The cereal cyst nematode,Heterodera avenae,is one of the most economically important pathogens impacting the worldwide production of cereals and is widely distributed in more than 16 regions in *** present study used the numbers of nematodes inside the plant roots to evaluate the resistance/susceptibility of different subpopulations of barley Hordeum vulgare(QH2R,QH6R and TB2R)to *** under field and pot *** development in two highly resistant varieties was also evaluated by in vivo experiment and microscopic *** of 186selected varieties showed the numbers of susceptible varieties identified with the number of females/cysts per plant(NFP)method were significantly higher than those identified with the Pf/Pi ratio(PPR)method,which indicated that the NFP method rather than the PPR method is more reliable to evaluate the resistance of *** field and pot experiment results indicated that the QH2R subpopulation had lower females/cysts numbers than QH6R and TB2R subpopulations,and eight HR varieties(Sunong 7617,Sunong 7635,Dongyuan 87-14,Rudong 14-46,Rudong 87-57,Rudong 87-8-45,Rudong 88-14-2,and Rudong 88-67-1)were identified in QH2R,with the NFP numbers below *** microscopic observation of nematode development suggested that *** often penetrated less into highly resistant varieties(Sunong 7635 and Dongyuan 87-14)and more frequently failed to develop into females than the susceptible *** promising resistant varieties identified in the present research might be helpful for breeders to develop CCN-resistant cultivars and control *** populations effectively at low costs.

关键词： Heterodera avenae barley varieties resistance evaluation number of females/cysts per plant(NFP)

Clinicopathologic analysis of eight cases of pancreatic carcinoid tumors

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Chinese Medical Journal 2009年第13期122卷 1591-1594页

作者： HE Xiao-wen WU Xiao-jian HE Xiao-sheng ZOU Yi-feng KE jia WANG jian-ping LAN ping Department of Colorectal Surgery the Sixth Affiliated Hospital Sun Yat-Sen University Guangzhou Guangdong 510655 China

Carcinoids of the pancreas are exceedingly rare tumors that originate from the enterochromaffin cells of the gastroenteropancreatic neuroendocrine system. According to a recent report, pancreatic carcinoids are found in only 0.58% （79/13 715 cases） of the entire carcinoid group. To date, very limited information regarding the detection and diagnosis of this entity has been reported in the available literature. Although pancreatic carcinoid tumors grow slowly and show an indolent clinical behavior, they are potentially malignant. Due to the late onset of clinical symptoms and delayed diagnosis of the tumor, there was a high incidence of distant metastases that hampered long-term survival for many patients, leading to an unfavorable overall prognosis.

关键词： carcinoid tumor pancreas pathology metastasis

Recurrent Fisher-Bickerstaff syndrome： report of a Chinese case

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Chinese Medical Journal 2011年第17期124卷 2786-2788页

作者： DONG Hui-qing LIU Zheng TANG Yi LU Yan WANG Qi jia jian-ping Department of Neurology Xuanwu Hospital Capital Medical University Beijing 100053 China Key Neurodegenerative Lab of Ministry of Education of the People's Republic of China Beijing 100053 China

Fisher-Bickerstaff syndrome （FBS） was recently proposed to help to diagnose the conditions that overlap Fisher syndrome and Bickerstaff＇s brainstem encephalitis, as well as the unclassified conditions that had ophthalmoplegia and ataxia with clear consciousness, flexor plantar response and preserved tendon reflexes. Recurrences are exceptional with Guillain-Barre syndrome and its variants. Here we reported a patient with diagnosis of recurrent FBS. The patient presented with recurrent drowsiness, unsteady gait, diplopia and reduced deep tendon reflexes, which met the diagnostic criteria for FBS. The interval was eight months. He was treated with intravenous immunoglobulins during each episode and got good recovery. To our knowledge, this is a relatively early report about recurrent FBS case that had central and peripheral involvement during each episode in China.

关键词： Fisher syndrome Bickerstaff's brainstem encephalitis Guillain-Barr~ syndrome recurrent

载脂蛋白D基因多态与散发性阿尔茨海默病的相关性

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中华神经科杂志 2008年第12期41卷 802-807页

作者：陈燕贾建平首都医科大学宣武医院神经内科北京100053

目的通过检测载脂蛋白D基因（apolipoprotein D gene，ApoD）单核苷酸多态位点，探讨其与北方汉族人群散发性阿尔茨海默病（sporadic Alzheimer’s disease，SAD）的相关性。方法应用聚合酶链反应（PCR）及直接测序筛查ApoD基因所有外... 详细信息

目的通过检测载脂蛋白D基因（apolipoprotein D gene，ApoD）单核苷酸多态位点，探讨其与北方汉族人群散发性阿尔茨海默病（sporadic Alzheimer’s disease，SAD）的相关性。方法应用聚合酶链反应（PCR）及直接测序筛查ApoD基因所有外显子及其两端内含子多态位点。选取等位基因频率大于10％的位点，利用PCR-限制性片段长度多态性（PCR—RFLP）技术，采用病例封照相关性研究方法，研究256例SAD患者以及294名健康人的ApoD多态位点与SAD发病的关系。同时对位点间的连锁不平衡及构建的单体型进行相关性分析。结果ApoD第2号外显子存在T／C多态性（rs5952），第3号内含子（rs1568566）存在C／T多态性。ApoD m5952T／C和rs1568566C／T等位基因频率和基因型频率在SAD组和对照组间的分布差异有统计学意义。Logistic回归分析表明携带rs5952C或rs1568566T等位基因分别增加SAD发病风险：校正后rs5952 χ^2=9．282（P=0．002）；m1568566 χ^2=5．072（P=0．024）。进一步分析证实性别和ApoD多态性存在交互作用。rs5952-rs1568566位点间存在连锁不平衡。结论北方汉族人ApoD基因存在第2号外显子m5952和第3号内含子rs15685662个多态位点；ApoD多态可增加SAD发病风险；携带rs5952T或rs1568566C单体型可能对SAD的发病有一定的保护作用。

关键词：阿尔茨海默病载脂蛋白类多态性,单核苷酸

Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type

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Chinese Medical Journal 2017年第4期130卷 492-494页

作者： Li-Yong Wu Hong An jia Liu Jie-Ying Li Yue Han Ai-Hong Zhou Fen Wang jian-ping jia Department of Neurology Xuan Wu Hospital Capital Medical University Beijing 100053 China Department of Neurology The First Clinical College of Capital Medical University Beijing 100069 China

Methylmalonic aciduria （MMA） is an autosomal recessive disorder of cobalamin （cbl） metabolism. Cobalamin C （cblC） disease is the most common type of MMA and is characteristically concurrent with homocystinemia （HCY） due to impaired synthesis of two active forms of cbl, namely adenosylcobalamin （AdoCbl） and methylcobalamin （MeCbl）. The estimated worldwide incidence of MMA ranges between 1：48,000 and 1：250,000. Mutations of the MMA and HCY type C protein （MMACtfC） gene are responsible for cblC disease and were first identified by Lerner-Ellis et aL in *** the year 2016, more than 82 different MMACHC gene mutations have been reported （http：// ***/ac/***）. Among these mutations, c.609G〉A （p.W203X） was reported to be the most frequent cblC mutation in Chinese patients.

关键词： Homocystinemia Late-onset Manic-depressive Psychosis Methylmalonic Aciduria Methylmalonic Aciduria and Homocystinemia Type C Protein

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阿尔茨海默病患者的血小板功能研究

中华医学杂志 2009年第3期89卷 183-186页

作者：于洁贾建平首都医科大学北京宣武医院神经内科 100053

目的观察阿尔茨海默病（AD）患者血小板聚集功能的变化，并初步探讨血小板中一氧化氮（NO）对其聚集功能改变的影响。方法测定40例轻中度AD患者和42名健康对照的血小板聚集功能、血小板中NO含量、以及内皮型一氧化氮合酶（eNOS）和诱导... 详细信息

目的观察阿尔茨海默病（AD）患者血小板聚集功能的变化，并初步探讨血小板中一氧化氮（NO）对其聚集功能改变的影响。方法测定40例轻中度AD患者和42名健康对照的血小板聚集功能、血小板中NO含量、以及内皮型一氧化氮合酶（eNOS）和诱导型一氧化氮合酶（NOS）的活性，分析AD患者血小板产生的NO与其聚集功能之间的相关性。结果与对照组相比（53％±9％），AD组血小板最大聚集率明显增高（58％±12％，P〈0．05），血小板中的NO含量明显降低（对照组0．874±0．378，AD组0．743±0．164，P〈0．05），二者之间呈明显负相关（r=-0．358，P〈0．05）。AD组血小板eNOS活性[（0．040±0．016）nmol·10^8pt^-1·min^-1]明显低于对照组[（0．050±0．023）nmol·10^8pt^-1·min^-1，P〈0．05]；iNOS活性[（0．037±0．016）nmol·10^8pt^-1·min^-1]与对照组[（0．043±0．021）nmol·10^8pt^-1·min^-1]相比差异无统计学意义。AD组血小板NO含量与eNOS活性呈明显正相关（r=0．326，P〈0．05）。轻中度AD患者之间上述指标相比差异无统计学意义。结论AD患者血小板eNOS活性下降致使血小板生成NO减少，可能是导致血小板聚集功能增强的原因之一；因此，增加血小板NO生成及其他抗血小板聚集药物可能成为AD未来治疗的一种选择。

关键词：阿尔茨海默病血小板聚集率一氧化氮一氧化氮合酶

PSEN2基因启动子多态性与阿尔茨海默病易患性的关联研究

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中华神经科杂志 2007年第1期40卷 18-22页

作者：刘峥贾建平首都医科大学北京宣武医院神经内科 100053

目的探讨 PSEN2 基因启动子多态性与散发性阿尔茨海默病(Alzheimer disease,AD)的关联关系。方法采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)检测160例 AD 和160名年龄、性别相匹配的健康对照组的 PSEN2和 ApoE 基因型分布,... 详细信息

目的探讨 PSEN2 基因启动子多态性与散发性阿尔茨海默病(Alzheimer disease,AD)的关联关系。方法采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)检测160例 AD 和160名年龄、性别相匹配的健康对照组的 PSEN2和 ApoE 基因型分布,并应用非条件 Logistic 回归分析判断 PSEN2和 ApoE 基因型是否为 AD 的危险因素。结果 PSEN2启动子+A/-A多态性频率在AD 组(+A/+A 58.8%,+A/-A 35.0%,-A/-A 6.3%)和对照组(+A/+A 65.0%,+A/-A33.1%,-A/-A 1.9%)间的差异无统计学意义(P=0.11)。年龄分层后,早发性和晚发性 AD 与相应对照组基因型频率差异仍无统计学意义(早发性 P=0.381,晚发性 P=0.287)。但根据 ApoE ε4携带与否分层后,在ε4非携带组 AD(+A/+A 50.7%,+A/-A 41.1%,-A/-A 8.2%)与对照组(+A/+A 65.0%,+A/-A 32.8%,-A/-A 2.2%)3种 PSEN2启动子基因型频率差异有统计学意义(P=0.038);在ε4携带组 AD 与对照组间 PSEN2基因型频率差异无统计学意义(P=0.549)。Logistic 回归表明,ApoE 基因型与 AD 的发生有关联关系(OR 5.2,95% CI 3.2～8.5,P<0.01),PSEN2基因型与 AD 的发生无关联关系(OR 1.4,95% CI 0.9～2.1,P=0.10),但在 ApoE ε4非携带组,PSEN2基因型与 AD 的发生有弱相关(OR 1.8,95% CI 1.1～3.0,P=0.02),ApoE 与 PSEN2之间无交互作用。结论 PSEN2启动子+A/-A 多态性可能是散发性 AD 比较弱的遗传危险因素,主要是在未携带 ApoE ε4等位基因的 AD 患者中具有一定的危险度。

关键词：阿尔茨海默病膜蛋白质类启动区(遗传学) 聚合酶链反应多态现象(遗传学)