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Clinical and genetic characteristics of adrenomyeloneuropathy

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中国医学文摘:内科学分册(英文版) 2023年第2期40卷 127-127页

作者：刘桃桃 dept neurol Shanghai 6th People's HospShanghai Jiaotong Univ Med SchShanghai 200233

Objective To summarize and analyze the clinical and genetic characteristics of Chinese patients with adrenomyeloneuropathy(AMN).Methods Clinical data were collected and analyzed retrospectively on AMN patients who were diagnosed by genetic testing in Shanghai Sixth People's Hospital,Shanghai Jiao Tong University School of Medicine from May 2008 to August 2022.

关键词： neuropathy Clinical patients

The study on the relationship between the levels of serum CysC and cognitive function in patients with acute cerebral lacunar infarction

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China Medical Abstracts (Internal Medicine) 2017年第2期 126-126页

作者：张筱英 dept neurol & Collaborat Innov Center Brain Scie1st Affil HospSch MedZhejiang Univ

Objective To investigate the relationship between the level of serum cystatin C(CysC)and cognitive function in patients with acute cerebral lacunar infarction caused by small vessel *** One hundred twenty-three patien... 详细信息

关键词： CysC The study on the relationship between the levels of serum CysC and cognitive function in patients with acute cerebral lacunar infarction in of with

Acute necrotizing encephalopathy in a child caused by human herpesvirus-6 infection

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China Medical Abstracts(Internal Medicine) 2021年第1期38卷 61-61页

作者： TANG Zhihui dept neurol Children's HospZhengzhou UnivHenan Children's HospZhengzhou Children's HospZhengzhou 450018

Objective To analyze the clinical and imaging characteristics of acute necrotic encephalopathy (ANE) in a child with human herpesvirus-6 (HHV-6) *** Retrospective analysis was performed on the clinical data and imaging features of a case of HHV-6 related ANE from Children’s Hospital Affiliated to Zhengzhou University in March *** The one year and seven month-old child had acute encephalopathy.

关键词： acute encephalopathy clinical

Clinical characteristics and genetic analysis of early epileptic encephalopathy caused by YWHAG gene mutation

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China Medical Abstracts(Internal Medicine) 2021年第1期38卷 60-60页

作者： MEI Daoqi dept neurol Children's HospZhengzhou UnivHenan Children's HospZhengzhou Children's HospZhengzhou 450018

Objective To report a rare case of early onset epileptic encephalopathy caused by YWHAG gene mutation,and discuss the clinical and genetic characteristics as well as the diagnosis,treatment and prognosis of the *** Cl... 详细信息

关键词： Clinical diagnosis encephalopathy

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散发MM2型克-雅病的临床诊断

世界核心医学期刊文摘（神经病学分册） 2005年第7期1卷 45-46页

作者： Hamaguchi T. Kitamoto T. Sato T. M. Yamada 高方 dept. of neurol./Neurbi o. of Aging Kanazawa Univ. Grad.Sch. Med. Sci. 13-1 Takara-machi Kanazawa 9 20-8640Japan Dr.

Background: No method for the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) has been established exce pt for pathologic examination. Objective: To identify a reliable marker for the clinical diagnosis of MM2-type ***: CSF, EEG, and neuro imaging studie s were performed in eight patients with MM2-type sCJD confirmed by neuropatholo gic,genetic, and western blot analyses. Results: The eight cases were pathologic ally classified into the cortical (n= 2), thalamic (n = 5), and combined (cortic othalamic) (n =1) forms. The cortical form was characterized by late-onset,slow ly progressive dementia, cortical hyperintensity signals on diffusion-weighted imaging (DWI) of brain, and elevated levels of CSF 14-3-3 protein. The thalami c form showed various neurologic manifestations including dementia, ataxia, and pyramidal and extrapyramidal signs with onset at various ages and relatively lon g disease duration. Characteristic EEG and MRI abnormalities were almost absent. However, all four patients examined with cerebral blood flow (CBF) study using SPECT showed reduction of the CBF in the thalamus as well as the cerebral cortex . The combined form had features of both the cortical and the thalamic forms, sh owing cortical hyperintensity signals on DWI and hypometabolism of the thalamus on [18F]2-fluoro-2-deoxy-D-glucose PET. Conclusion: For the clinical diagno sis of MM2-type sporadic Creutzfeldt-Jakob disease,cortical hyperintensity sig nals on diffusion-weighted MRI are useful for the cortical form and thalamic hy poperfusion or hypometabolism on cerebral blood flow SPECT or [18F]2-fluoro-2 -deoxy-D-glucose PET for the thalamic form.

关键词：克-雅病 MM2 临床诊断去氧葡萄糖 cortical 弥散加权成像大脑皮质神经成像缓慢进展性脑血流

Association study between rs505922 and prognosis of large artery atherosclerotic stroke in a Chinese Han population

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Association study between rs505922 and prognosis of large ar...

A study of GWAS-supported variants rs9943582 in a Chinese Han population with ischemic stroke:no associations with disease onset and clinical outcomes

2019年浙江省神经病学学术大会

作者： Hao Zhang Lingli Sun Huaiming Wang Huan Cai Guozhong Niu Yongjie Bai Yun Zhang Dong Yang Mengmeng Gu Pengfei Xu Xinying Fan Xinfeng Liu Gelin Xu Department of neurology Affiliated Hangzhou First People's HospitalZhejiang University School of Medicine Department of neurology Jinling HospitalMedical School of Nanjing University Departmentof neurology Jinling HospitalSecond Military Medical University Department of neurology Jinling HospitalSouthern Medical University Department of neurology Jinling HospitalNanjing Medical University Department of neurology Henan Univ Sci & TechnolAffiliated Hosp 1Dept Neurol

Objectives:To explore the relationships between rs505922 and prognosis of large artery atherosclerotic stroke in a Chinese Han ***:A prospective cohort study was *** March 2012 and March 2015,participants who were diagnosed as acute large artery atherosclerotic stroke and registered in Nanjing Stroke Registry Program(NSRP) were recruited for the *** criteria of the cases included Chinese Han ethnicity;aged 18 years or older;LAA stroke classified according to TOAST and confirmed by imaging results within 14 days of stroke onset;and written informed consent was obtained from each enrolled *** criteria included severe heart,lung,liver and kidney dysfunction;malignancies;autoimmune and inflammatory diseases;hematological diseases;with history of stroke or cardiovascular *** objective SNP,rs505922,was identified according to previous GWAS *** peripheral venous blood was obtained at the first morning after recruited in this *** DNA was extracted with DNA isolation *** for variants of rs505922 was conducted by the SNPscanTM multiple SNP typing ***-up was conducted for all patients at 3,6,9 and 12 months after enrollment via clinical visit or telephone *** primary end points were recurrent vascular events and all cause ***-up was terminated when a primary endpoint was defined or 12 months follow-up *** final follow-up data were obtained in March *** analyses were performed using IBM SPSS Statistics version 22.0(IBM Corp,Armonk,NY) Hardy-Weinberg equilibrium was tested with χ *** used one-way ANOVA to compare the mean age of acute large artery atherosclerotic stroke onset for three *** of event-free survivals between different genotypes were conducted with the Kaplan-Meier *** proportional hazards regression models were performed to calculate hazard ratios(HR) and 95% confidence intervals(CI) after

关键词： Atherosclerosis Single nucleotide polymorphism Ischemic stroke ABO Prognosis

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A study of GWAS-supported variants rs9943582 in a Chinese Ha...

Evaluation of combination gene therapy with PTEN and antisense hTERT for malignant glioma in vitro and xenografts

2019年浙江省神经病学学术大会

The variant rs9943582 of APLNR(apelin receptor) was identified by a large-scale association study to be associated with an increased risk of ischemic stroke in a Japanese *** conducted this study to investigate the association between the variant and age of onset and clinical outcomes of ischemic stroke in a Chinese *** multiple ligase detection reaction was used to genotype the *** compared the mean age at ischemic stroke onset with one-way ***-Meier method,log-rank test and the Cox proportional hazards regression models were performed to analyze the association between the variant and ischemic stroke clinical outcomes(recurrence and death).A total of 916 ischemic stroke patients were recruited in the *** age at ischemic stroke onset,no significant association was identified with the variant in any genetic *** addition,the variant was not strongly associated with recurrence and death risk of ischemic stroke,shown by the *** findings indicated that the variant rs9943582 was not associated with age at onset and clinical outcomes of ischemic ***,evidence from well-designed studies with larger and other ethnic populations are warranted to further explore the effects of APLNR on the ischemic stroke onset and clinical outcomes.

关键词： rs9943582 APLNR Ischemic stroke outcom

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南京医科大学学报（自然科学版） 2007年第5期27卷 440-440页

作者： You, Y. P. Geng, X. Z. Zhao, P. FU, Z. Wang, C. Z. Chao, S. W. Liu, N. Lu, A. L. Gardner, K. Pu, P. Y. Kong, C. S. Ge, Y. Judge, S. I. V. Li, Q. D. Q Nanjing Med Univ Affiliated Hosp 1 Dept Neurosurg Nanjing 210029 Peoples R China NCI Ctr Canc Res Lab Receptor Biol ＆ Gene Express N1H Bethesda MD 20892 USA. Tianjin Med Univ Gen Hasp Dept Neurosurg Tianjin 300052 Peoples R China Univ Maryland Sch Med VA Maryland Hlth Care Syst MS Ctr Excellence East Baltimore MD 21201 USA Univ Maryland Sch Med Dept Neurol Baltimore MD 21201 USA

Telomerase activation is a critical event in cell immortalization, and an increase in human telomerase revers e transcriptase(hTERT) expression is the key step in activating telomerase。The phosphatase and tensin homolog(PTEN) gene encodesa double-specific phosphatase that induces cell cycle arrest, inhibits cell growth, and causes apoptotic cell death。Here we evaluated a combined PTEN and antisense hTERT gene therapy for experimental glioma in vitro and in vivo。

关键词：神经胶质瘤异体移植联合治疗 hTERT 基因治疗疗效 PTEN

阈下重复经颅磁刺激前运动皮层对抽动秽语综合征的抽搐无控制作用

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世界核心医学期刊文摘（神经病学分册） 2005年第8期1卷 28-29页

作者： Orth M. Kirby R. Richardson M.P. 高中宝 Sobell dept. Motor Neurosci. M. Natl. Hosp. Neurol. And Neurosurg. Roy. Free and Univ. Coll. Med. Sch. Queen Square London WC1N 3BG United Kingdom

Objective: A previous study showed no effect of 1 Hz repetitive transcranial m agnetic stimulation (rTMS) on tics in Gilles de la Tourette Syndrome (GTS). We m odified the rTMS protocol in order to investigate some of the possible methodolo gical reasons for the negative outcome in that study. Methods: In a single blind ed placebo-controlled cross-over study in five GTS patients without obsessive compulsive disorder we probed whether longer trains (1800 stimuli) of 1 Hz pre- motor cortex rTMS at 80%of active motor threshold and application to both hemis pheres can improve tics in GTS. This was measured with the Yale Global Tic sever ity rating scale, the MOVES self-rating scale and video analysis. Results: We f ound no significant effect of either left pre-motor cortex stimulation alone, o r left pre-motor followed by right pre-motor cortex stimulation. Conclusions:T hese results suggest that the rTMS protocol used in this study is not useful for the treatment of tics in GTS. Significance: rTMS protocols need to be modified substantially in order to explore their potential for the treatment of tics in G TS.

关键词：抽动秽语综合征重复经颅磁刺激运动皮层控制作用抽搐症状运动阈值安慰剂对照强迫行为等级量表单盲