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中国神经科学学会第四次会员代表大会暨第七届全国学术会议

作者： Jing-Min WANG~1,Ye WU~1,Tony M.F.TONG~2,Stephen T.S.LAM~2,Hui-Fang WANG~3,Xin-yi LI~3,Yan-Ling YANG~1,Jiong QIN~1,Xi-Ru WU~1,Yu-Wu JIANG~1 1 department of Pediatrics,Peking University First Hospital,Beijing,100034,china 2 clinical genetic service,department of health,hksar government,hong kong,china 3 department of Neurology,First Hospital affiliated to Shanxi Medical University,Taiyuan 030001,china

Objective Pelizaeus-Merzbacher disease(PMD;OMIM 312080) is a rare X-linked recessive disorder presenting with nystagmus,impaired motor development,ataxia,and progressive ***,PMD is divided into classical,transitional and connatal *** main cause of PMD is Proteolipid protein(PLP1) gene ***1 gene(GenBank NM00533) is located at chromosome Xq22.2,covers approximately 17 kb genomic DNA and contains seven exons encoding 276 amino *** of the PLP1 gene is the most frequent gene defect,accounting for 50%-70%of PMD cases,whereas point mutations in the coding sequence or affecting splice sites account for 10%-25%of PMD *** ligation-dependent probe amplification(MLPA) is based on the ligation of two adjacent annealing oligonucleotides followed by quantitative PCR amplification of the ligated *** has been described recently, which is a efficient method to detect DNA duplications and *** To identify Proteolipid protein 1(PLP1) mutations in eight unrelated Chinese patients(P1-8) with Pelizaeus-Merzbacher disease(PMD) and 14 subjects from family (P2),and analyze the correlation between the genotype and *** Genomic DNA was extracted from peripheral bloods *** was used for detecting the PLPl copy number changes using probe mix SALSA P022 obtained from MRC Holland,Amsterdam,The *** mix included a total of 32 probes,of which seven were for each of the PLP1 exons,eight were from different regions of the X chromosome,one was from the Y chromosome and the remainders were autosomal probes for internal *** of probe sequences,gene loci and chromosome locations can be found at http://*** reactions were carried out in a thermal cycler according to the recommended protocol by the *** software allowed determination of the peak area for each PCR product, and these data were entered into a spreadsheet in a Microsoft TM Excel

关键词： Pelizaeus-Merzbacher disease(PMD) proteolipid protein 1(PLP1) gene multiplex ligation-dependent probe amplification(MLPA) mutation

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Evaluation of referrals for genetic investigation of short stature in hong kong

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Chinese Medical Journal 2002年第4期000卷 127-131页

作者： LAM Wai Fan Fanny, HAU Wai Lok Edgar and LAM Tak Sum Stephen clinical genetic service, department of health, hong kong Special Administrative Region, china (Lam WFF, Hau WLE and Lam TSS) clinical genetic service Department of Health Hong Kong Special Administrative Region China

To establish a profile of the causes of apparently unexplained SS in genetic ref erral center and evaluate the current referral system Methods This was a retrospective database survey on patients who were referred our clini cal genetic service from 1988-1998 primarily because of SS We retrieved the st udy population from our computer database using "short stature" as a search han dle and then studied the demographic, clinical and laboratory data from their me dical records Results Three hundred and fifty three subjects were referred for genetic evaluation of SS in 1988-1998 The mean age of referred subjects was 11 5 years and the female to male ratio was 7 6 All referrals had undergone cytogenetic studies to exclude chromosomal abnormal ities, 19% of girls with apparently unexplained short stature had Turner syndrom e; at least 47 9% of the study population were normal variants and 25% of the referrals had inadequate information for classification Conclusions genetic investigation is essential in the management of patients with SS, especi ally for girls suspected of having Turner syndrome, in which growth hormone trea tment has shown to improve final height We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short statur e, and discussed the drawbacks of the current referral

关键词： genetic investigation · etiology · short stature

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Spread of invasive migratory pest Spodoptera frugiperda and management practices throughout china

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Journal of Integrative Agriculture 2021年第3期20卷 637-645页

作者： ZHOU Yan WU Qiu-lin ZHANG Hao-wen WU kong-ming State Key Laboratory for Biology of Plant Diseases and Insect Pests Institute of Plant ProtectionChinese Academy of Agricultural SciencesBeijing 100193P.R.China

The fall armyworm(FAW),Spodoptera frugiperda(***)(Lepidoptera:Noctuidae),a notorious migratory pest native to tropical and subtropical America,invaded china in December 2018,then spread through 26 provinces(autonomous regions,municipalities)in 2019 and 27 in 2020,damaging 1.125 and 1.278 million hectares of crops,*** was the most severely affected crop,although wheat and other plants were also *** the biological characteristics,incidence regularity and migration patterns of the FAW populations,Chinese government implemented a regional control strategy and divided the areas infested with FAW into the annual breeding grounds in Southwest and South china,the transitional migration area in Jiangnan and Jianghuai and the key preventive area in the Huang-Huai-Hai region and North *** National Agro-Tech Extension and service Center constructed"the National Information Platform for the Prevention and Control of the Fall Armyworm"at the county level,which would entail people reporting and mapping the spread of fall *** to forecasting information,millions of extension workers and small-scale growers in entire country were rallied by local governments to fight the pest through comprehensive control tactics including chemical,physical,biological and ecological *** to the joint prevention and control,the final loss of crops infested was controlled within 5%of the total in 2019 and *** review also gives a discussion on existing problems and future management scenarios.

关键词： Spodoptera frugiperda genetic characteristics occurrence and damage monitoring and early-warning control measures

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Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature

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World Journal of clinical Cases 2020年第1期8卷 222-233页

作者： Yun-Chun Chen Xu-Ning Huang Chang-Ying kong Jian-Dong Hu department of Laboratory Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina department of Ultrasound Medicine Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina department of Gynecology Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina department of Internal Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina

BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal *** the genetic substance with balanced translocation in individuals does not change,which is usually characterized by normal phenotype and intelligence,the individuals seek medical service after many miscarriages,resulting in considerable mental and physical burdens of the family *** the current era with rapid advances in detection technology,cytogenetic examination,as a definitive approach,still plays an essential *** SUMMARY We report six cases with balanced chromosome translocation:Case 1:46,XY,t(3;12)(q27;q24.1),infertility after 3 years of marriage;Case 2:46,XX,t(4;16)(q31;q12),small uterus and irregular menstruation;Case 3:46,XY,t(4;5)(q33;q13),9qh+,not pregnant after arrested fetal development;Case 4:46,XX,t(11;17)(q13;p11.2),not pregnant after two times of spontaneous abortion;Case 5:46,XX,t(10;13)(q24;q21.2),not pregnant after arrested fetal development for once;Case 6:46,XX,t(1;4)(p36.1;q31.1),not pregnant after arrested fetal development for two *** first four cases had chromosomal aberration *** These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal *** discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.

关键词： Reproductive risk Balanced translocation Abnormal pregnancy genetic counseling Case report

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Taking Proactive Action:Introduction to the Prevention and Treatment of COVID-19 with Traditional Chinese Medicine

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Chinese Medicine and Culture 2021年第1期4卷 25-30页

作者： Jian-Nan Qiu hong-Yong Deng Shanghai Innovation Center of TCM health service Shanghai University of Traditional Chinese MedicineShanghai 201203China

Since the outbreak of coronavirus disease-2019(COVID-19),traditional Chinese medicine(TCM)has fully displayed its strength and specialty and has played an important role in the prevention and treatment of the *** with the unexpected development of the pandemic,the Chinese government has responded quickly and attached great importance to the effect of *** therapy integrating Chinese and Western medicine has achieved remarkable *** summarize and introduce the prevention and treatment of COVID-19 with TCM,this article covers the perspectives of policy guideline issue,clinical diagnosis participation,and scientific research progress.

关键词： COVID-19 integrated Chinese and Western medicine traditional Chinese medicine

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Fibromatosis-like metaplastic carcinoma of the breast:Two case reports

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World Journal of clinical Cases 2023年第18期11卷 4384-4391页

作者： Wei-Yu Bao Jiang-hong Zhou Yan Luo Yun Lu department of Breast Surgery Ⅰ Gansu Provincial Cancer HospitalLanzhou 730050Gansu ProvinceChina department of Nursing Gansu Provincial Cancer HospitalLanzhou 730050Gansu ProvinceChina department of Pathology Gansu Provincial Cancer HospitalLanzhou 730050Gansu ProvinceChina Functional department Gansu Provincial Cancer HospitalLanzhou 730050Gansu ProvinceChina

BACKGROUND Fibromatosis-like metaplastic carcinoma is classified as a rare type of metaplastic carcinoma of the breast by the 2012 WHO pathological and genetic classification criteria for breast tumors,which takes hyperplastic spindle cells as the main component and is often misdiagnosed as benign stromal proliferative lesions or benign mesenchymal tumors of the breast because of its mild ***,we collected the clinical data of 2 cases of fibromatosis-like metaplastic carcinoma of the breast and performed pathomorphological observation and immunohistochemical staining of the surgically resected *** to the clinical features,imaging features,immunophenotype,diagnosis and differential diagnosis of 2 cases of fibromatosis-like metaplastic carcinoma of the breast,it was further *** SUMMARY Case 1:A 56-year-old postmenopausal female was admitted due to"right breast mass for over 1 year and local ulceration for over 1 mo".Physical examination showed a mass with a diameter of 4.5 cm×5.5 cm palpable at 2.5 cm from the nipple at 1 o'clock in the right *** skin on the surface of the mass ruptured about 3 cm,with a small amount of exudation and bleeding,less clear boundary,hard texture,fair activity,without obvious *** obvious abnormality was palpable in the left *** enlarged lymph nodes were palpable in the bilateral axillae and bilateral supraclavicular *** removing the mass tissue,it was promptly sent to the pathology department for *** 2:Female,52-years-old,premenopausal,admitted due to"right breast mass for more than 3 mo".Physical examination showed a 4.0 cm×4.0 cm diameter mass palpable at 2.0 cm of the nipple in the lower outer 7 o'clock direction of the right breast,with less clear boundary,hard texture,fair activity,no significant tenderness,no palpable significant abnormalities in the left breast,and no palpable enlarged lymph nodes in the bilateral axillae and bilateral supraclavi

关键词： Breast cancer Fibromatosis-like metaplastic carcinoma Metaplastic carcinoma Spindle cell lesion Pathology

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湘西自治州基层卫生人才现状分析及对策

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中华全科医学 2011年第6期9卷 929-931页

作者：林丽杨树升向志钢张业军钟飞吉首大学医学院临床系湖南省吉首市416000

目前,我省农村卫生人才严重缺乏,尤其是乡镇卫生院和村卫生室的卫生人员普遍存在学历低、职称低、能力低的"三低"现象。基层社区卫生服务机构面临的一个重大挑战就是医疗资源的配置不均和人才流失的马太效应。贫困地区缺医少药的现象非... 详细信息

目前,我省农村卫生人才严重缺乏,尤其是乡镇卫生院和村卫生室的卫生人员普遍存在学历低、职称低、能力低的"三低"现象。基层社区卫生服务机构面临的一个重大挑战就是医疗资源的配置不均和人才流失的马太效应。贫困地区缺医少药的现象非常普遍,最关键的是缺医,农村医疗人才下不来、留不住的问题依然没有得到根本解决。医疗人员的缺少也导致了贫困地区群众的卫生观念的落后,其中"小病拖重、大病拖死"的现象较为普遍。通过对西部少数民族聚居地基层卫生服务人才培养的现状及存在的问题进行分析,提出通过"政府投入、免费就读、协议培养、定向服务"的新模式,为基层医疗卫生单位培养全科医生提供了一个良好契机,同时为促建"人人享有卫生保健"目标的实现提供了可操作性平台。

关键词：基层卫生服务全科医生定向培养

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国家基层高血压防治管理指南2020版

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中国循环杂志 2021年第3期36卷 209-220页

作者：国家心血管病中心国家基本公共卫生服务项目基层高血压管理办公室国家基层高血压管理专家委员会李静高润霖国家心血管病中心国家基本公共卫生服务项目基层高血压管理办公室国家基层高血压管理专家委员会

心血管疾病已成为我国首位死亡原因,管理好高血压患者是遏制我国心脑血管疾病流行的核心策略之一。基层医疗卫生机构通过国家基本公共卫生服务项目对高血压患者进行长期随访管理,本指南旨在为基层医务人员提供高血压防治管理的简单直接... 详细信息

心血管疾病已成为我国首位死亡原因,管理好高血压患者是遏制我国心脑血管疾病流行的核心策略之一。基层医疗卫生机构通过国家基本公共卫生服务项目对高血压患者进行长期随访管理,本指南旨在为基层医务人员提供高血压防治管理的简单直接的操作指导。在2017版基础上,基于政府部门的管理要求和新近发布的相关领域研究证据,本指南主要在高血压的基层管理、血压测量、降压目标值以及降脂治疗目标值等内容上进行了更新。此外,首次增加了中医药在高血压领域的应用相关内容,为基层医务人员在高血压管理方面提供更全面的指导。

关键词：高血压防治管理指南基层

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A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex

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Neuroscience Bulletin 2024年第10期40卷 1489-1501页

作者： Han-Kui Liu hong-Lin Hao Hui You Feng Feng Xiu-hong Qi Xiao-Yan Huang Bo Hou Chang-Geng Tian Han Wang Huan-Ming Yang Jian Wang Rui Wu Hui Fang Jiang-Ning Zhou Jian-Guo Zhang Zhen-Xin Zhang BGI Genomics and BGI Research Shenzhen 518083China department of Neurology Clinical Epidemiology UnitPeking Union Medical College HospitalChinese Academy of Medical SciencesBeijing 100730China Division of Life Sciences and Medicine University of Science and Technology of ChinaHefei 230026China department of Radiology Peking Union Medical College HospitalChinese Academy of Medical SciencesBeijing 100730China department of Pathology Beijing Key Laboratory of Biomarker Research and Transformation for Neurodegenerative DiseasesPeking University Third HospitalSchool of Basic Medical SciencesPeking University Health Science CenterBeijing 100191China Anhui Provincial Children's Hospital Children's Hospital of Fudan UniversityHefei 230051China Hebei Industrial Technology Research Institute of Genomics in Maternal and Child health Clin LabBGI GenomicsShijiazhuang 050011China Institute of Brain Science The First Affliated Hospital of Anhui Medical UniversityHefei 230022China

This study aimed to identify possible pathogenic genes in a 90-member family with a rare combination of multiple neurodegenerative disease phenotypes,which has not been depicted by the known neurodegenerative *** performed physical and neurological examinations with International Rating Scales to assess signs of ataxia,Parkinsonism,and cognitive function,as well as brain magnetic resonance imaging scans with seven *** searched for co-segregations of abnormal repeat-expansion loci,pathogenic variants in known spinocerebellar ataxiarelated genes,and novel rare mutations via whole-genome sequencing and linkage analysis.A rare co-segregating missense mutation in the CARS gene was validated by Sanger sequencing and the aminoacylation activity of mutant CARS was measured by spectrophotometric *** pedigree presented novel late-onset core characteristics including cerebellar ataxia,Parkinsonism,and pyramidal signs in all nine affected *** magnetic resonance imaging showed cerebellar/pons atrophy,pontine-midline linear hyperintensity,decreased rCBF in the bilateral basal ganglia and cerebellar dentate nucleus,and hypo-intensities of the cerebellar dentate nuclei,basal ganglia,mesencephalic red nuclei,and substantia nigra,all of which suggested ***-genome sequencing identified a novel pathogenic heterozygous mutation(E795V)in the CARS gene,meanwhile,exhibited none of the known repeat-expansions or point mutations in pathogenic ***,this CARS mutation causes a 20%decrease in aminoacylation activity to charge tRNA^(Cys) with L-cysteine in protein synthesis compared with that of the wild *** family members carrying a heterozygous mutation CARS(E795V)had the same clinical manifestations and neuropathological changes of Parkinsonism and *** findings identify novel pathogenesis of Parkinsonismspinocerebellar ataxia and provide insights into its genetic architecture.

关键词： Parkinsonism Spinocerebellar ataxia CARS gene

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Functional role of frontal electroencephalogram alpha asymmetry in the resting state in patients with depression:A review

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World Journal of clinical Cases 2023年第9期11卷 1903-1917页

作者： Yu-hong Xie Ye-Min Zhang Fan-Fan Fan Xi-Yan Song Lei Liu Psychology College of Teacher Education Center of Group Behavior and Social Psychological ServiceNingbo UniversityNingbo 315211Zhejiang ProvinceChina

Depression is a psychological disorder that affects the general public *** is particularly important to make an objective and accurate diagnosis of depression,and the measurement methods of brain activity have gradually received increasing *** electroencephalogram(EEG)alpha asymmetry in patients with depression shows changes in activation of the alpha frequency band of the left and right frontal *** this paper,we review the findings of the relationship between frontal EEG alpha asymmetry in the resting state and *** on worldwide studies,we found the following:(1)Compared with individuals without depression,those with depression showed greater right frontal EEG alpha asymmetry in the resting ***,the pattern of frontal EEG alpha asymmetry in the resting state in depressive individuals seemed to disappear with age;(2)Compared with individuals without maternal depression,those with maternal depression showed greater right frontal EEG alpha asymmetry in the resting state,which indicated that genetic or experience-based influences have an impact on frontal EEG alpha asymmetry at rest;and(3)Frontal EEG alpha asymmetry in the resting state was stable,and little or no change occurred after antidepressant ***,we concluded that the contrasting results may be due to differences in methodology,clinical characteristics,and participant characteristics.

关键词： Depression Frontal electroencephalogram alpha asymmetry Frontal asymmetry Resting state Neurological indicator

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