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一个早期起病的遗传性痉挛性截瘫非裔美国家族中SPG3A基因的新突变

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世界核心医学期刊文摘（神经病学分册） 2005年第3期1卷 17-17页

作者： Hedera P. Fenichel G.M. Blair M. Haines J.l. 郭俊 Department of Neurology Vanderbilt University 6140 MRB III 4 65 21st Ave S Nashville TN 37232-8552 United States Dr.

Background: Mutations in a novel GTpase gene SPG3A cause an autosomal dominant hereditary spastic paraplegia linked to chromosome 14q (SPG3), which accounts f or approximately 10%to 15%of all autosomal dominant hereditary spastic paraple gia cases. The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established. Objective: To describe a kindred wit h an infantile onset of hereditary spastic paraplegia caused by a novel mutation in the SPG3A gene. patients: Complete neurological examination and genetic anal ysis were performed on 6 affected members of a small African American kindred. l inkage analysis to genetic markers near autosomal dominant hereditary spastic pa raplegia loci on chromosomes 2p and 14q was performed. The coding sequence of th e SPG3A gene was analyzed, and the identified change in the sequence was tested for being a benign polymorphism by sequencing 200 chromosomes from normal contro ls. Results: Every affected individual had signs of uncomplicated spastic parapa resis without additional neurological abnormalities. None of the affected family members had ever walked normally. The history was consistent with an infantile onset, despite the normal acquisition of motor milestones. Genetic analysis sugg ested linkage to the SPG3A locus on chromosome 14q. Analysis of the SPG3A gene r evealed a missense mutation C635T, predicted to result in a threonine to isoleuc ine substitution at codon 156. Analysis of 200 normal chromosomes did not identi fy the same change in healthy subjects. Conclusion: We report a novel muta tion in the SPG3A gene in an African American family with an infantile onset of auto somal dominant hereditary spastic paraplegia.

关键词： SPG3A 痉挛性截瘫遗传学分析突变谱编码序列婴儿期连锁分析遗传标记物健康受试者检查和

Fungal diversity notes 929-1035:taxonomic and phylogenetic contributions on genera and species of fungi

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Fungal Diversity 2019年第2期95卷 1-273页

作者： Rungtiwa Phookamsak Kevin D.Hyde Rajesh Jeewon D.Jayarama Bhat E.B.Gareth Jones Sajeewa S.N.Maharachchikumbura Olivier Raspe Samantha C.Karunarathna Dhanushka N.Wanasinghe Sinang Hongsanan Mingkwan Doilom Danushka S.Tennakoon Alexandre R.Machado Andre l.Firmino Aniket Ghosh Anuruddha Karunarathna Armin Mesic Arun Kumar Dutta Benjarong Thongbai Bandarupa.li Devadatha Chada Norphanphoun Chanokned Senwanna Deping Wei Dhandevi Pem Frank Kwekucher Ackah Gen-Nuo Wang Hong-Bo Jiang Hugo Madrid Hyang Burm lee Ishani D.Goonasekara Ishara S.Manawasinghe Ivana Kusan Josep Cano Josepa Gene Junfu li Kanad Das Krishnendu Acharya K.N.Anil Raj K.P.Deepna latha K.W.Thilini Chethana Mao-Qiang He Margarita Duenas Margita Jadan Maria P.Martin Milan C.Samarakoon Monika C.Dayarathne Mubashar Raza Myung Soo park M.Teresa Telleria Napalai Chaiwan Neven Matocec Nimali Ide Silva Olinto l.Pereira paras Nath Singh patinjareveettil Manimohan Priyanka Uniyal Qiu-Ju Shang Rajendra P.Bhatt Rekhani H.Perera Renato lucio Mendes Alvarenga Sandra Nogal-Prata Sanjay K.Singh Santhiti Vadthanarat Seung-Yoon Oh Shi-Ke Huang Shiwali Rana Sirinapa Konta Soumitra paloi Subashini C.Jayasiri Sun Jeong Jeon Tahir Mehmood Tatiana Baptista Gibertoni Thuong T.T.Nguyen Upendra Singh Vinodhini Thiyagaraja V.Venkateswara Sarma Wei Dong Xian-Dong Yu Yong-Zhong lu Young Woon lim Yun Chen Zdenko Tkalcec Zhi-Feng Zhang Zong-long luo Dinushani A.Daranagama Kasun M.Thambugala Saowaluck Tibpromma Erio Camporesi Timur S.Bulgakov Asha J.Dissanayake Indunil C.Senanayake Dong Qin Dai li-Zhou Tang Sehroon Khan Huang Zhang Itthayakorn Promputtha lei Cai Putarak Chomnunti Rui-lin Zhao Saisamorn lumyong Saranyaphat Boonmee Ting-Chi Wen Peter E.Mortimer Jianchu Xu Key laboratory for Plant Diversity and Biogeography of East Asia Kunming Institute of BotanyChinese Academy of ScienceKunming 650201YunnanPeople’s Republic of China Institute of Animal Science State Key Laboratory of AnimalNutritionChinese Academy of Agricultural SciencesBeijing 100193People’s Republic of China Center of Excellence in Fungal Research Mae Fah Luang UniversityChiang Rai 57100Thailand World Agroforestry Centre East and Central AsiaKunming 650201YunnanPeople’s Republic of China Mushroom Research Foundation 128 M.3 Ban Pa Deng T.Pa PaeA.Mae TaengChiang Rai 50150Thailand Department of Biology Faculty of ScienceChiang Mai UniversityChiang Mai 50200Thailand Department of Health Sciences Faculty of ScienceUniversity of MauritiusReduitMauritius No.128/1-J Co-Op Azad Housing SocietyCurcaGoa VelhaIndia Department of Crop Sciences College of Agricultural and Marine SciencesSultan Qaboos UniversityPO Box 8123 Al KhoudOman Botanic Garden Meise Nieuwelaan 381860 MeiseBelgium Federation Wallonie-Bruxelles Service general de l’Enseignement universitaire et de la Recherche scientifiqueRue A.Lavallee 11080 BrusselsBelgium Shenzhen Key laboratory of Microbial Genetic Engineering College of Life Science and OceanographyShenzhen University3688Nanhai AvenueNanshanShenzhen 518060People’s Republic of China Department of Plant Medicine National Chiayi University300 Syuefu RoadChiayi City 60004Taiwan Departamento de Micologia Universidade Federal de PernambucoRecifePernambucoBrazil Instituto de Ciencias Agrarias Universidade Federal de UberlandiaMonte CarmeloMinas GeraisBrazil Department of Botany&Microbiology H.N.B.Garhwal UniversitySrinagarGarhwal 246174UttarakhandIndia Department of Entomology and Plant pathology Faculty of AgricultureChiang Mai UniversityChiang Mai 50200Thailand Ruder Boskovic Institute Bijenicka cesta 5410000 ZagrebCroatia Molecular and Applied Mycology and Plant pathology laboratory Department of BotanyUniversity of CalcuttaKolkataWest Bengal

This article is the ninth in the series of Fungal Diversity Notes,where 107 taxa distributed in three phyla,nine classes,31 orders and 57 families are described and *** described in the present study include 12 new genera,74 new species,three new combinations,two reference specimens,a re-circumscription of the epitype,and 15 records of sexualasexual morph connections,new hosts and new geographical *** new genera comprise Brunneofusispora,Brunneomurispora,liua,lonicericola,Neoeutypella,paratrimmatostroma,parazalerion,Proliferophorum,Pseudoastrosphaeriellopsis,Septomelanconiella,Velebitea and ***-four new species are Agaricus memnonius,***,Aleurodiscus patagonicus,Amanita flavoalba,***,Amphisphaeria mangrovei,Baorangia major,Bartalinia kunmingensis,Brunneofusispora sinensis,Brunneomurispora lonicerae,Capronia camelliaeyunnanensis,Clavulina thindii,Coniochaeta simbalensis,Conlarium thailandense,Coprinus trigonosporus,liua muriformis,Cyphellophora filicis,Cytospora ulmicola,Dacrymyces invisibilis,Dictyocheirospora metroxylonis,Distoseptispora thysanolaenae,Emericellopsis koreana,Galiicola baoshanensis,Hygrocybe lucida,Hypoxylon teeravasati,Hyweljonesia indica,Keissleriella caraganae,lactarius olivaceopa.lidus,lactifluus midnapurensis,lembosia brigadeirensis,leptosphaeria urticae,lonicericola hyaloseptispora,lophiotrema mucilaginosis,Marasmiellus bicoloripes,Marasmius indojasminodorus,Micropeltis phetchaburiensis,Mucor orantomantidis,Murilentithecium lonicerae,Neobambusicola brunnea,Neoeutypella baoshanensis,Neoroussoella heveae,Neosetophoma lonicerae,Ophiobolus malleolus,parabambusicola thysanolaenae,paratrimmatostroma kunmingensis,parazalerion indica,Penicillium dokdoense,Peroneutypa mangrovei,Phaeosphaeria cycadis,Phanerochaete australosanguinea,Plectosphaerella kunmingensis,Plenodomus artemisiae,***,Proliferophorum thailandicum,Pseudoastrosphaeriellopsis kaveriana,Pseudohelicomyces menglunicu

关键词： 86 new taxa Agaricomycetes Ascomycota Basidiomycota Dacrymycetes Dothideomycetes Eurotiomycetes lecanoromycetes leotiomycetes Mucoromycetes Mucoromycota Pezizomycetes Sordariomycetes Taxonomy

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多余的子宫附属结构可能为一种新的苗勒畸形

世界核心医学期刊文摘（妇产科学分册） 2006年第2期2卷 36-36页

作者： Umobi M.-A.C. Meltz R.C. Barmat l.I. 李跃萍 Dr. ACP 332 Crozer-Chester Medical Center 1 Medical Center Boulevard Upland PA 19013 United States

Objective: To describe a case of an accessory uterine structure. Design: Case report. Setting: University affiliated, community-based hospital. patient(s): A 35-year-old woman who presented for laparoscopic tubal sterilization. Intervention(s): laparoscopy, tubal sterilization, dye test, and excision of accessory uterine structure. Main Outcome Measure(s): laparoscopic findings and resection of the anomaly. Result(s): laparoscopy showed a hollow uterine appendage that communicated with the uterine cavity. This was completely excised. Conclusion(s): We report a rare case of a uterine anomaly that is inconsistent with the traditional classification system, and we offer a possible mechanism for its formation.

关键词：附属结构子宫腔输卵管绝育术腔镜附属医院染料试验完全性分类系统

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桥接组合式内固定系统治疗股骨转子间骨折

临床骨科杂志 2023年第3期26卷 408-412页

作者：戴厚杰吕白陈余有毛鹏陈勇胡军祖王洪凯桂林医学院第二附属医院骨科一病区广西桂林541199

目的探讨桥接组合式内固定系统治疗股骨转子间骨折的临床疗效。方法采用桥接组合式内固定系统治疗22例股骨转子间骨折患者。记录手术时间、术中出血量、切口长度、术后引流量、骨折愈合时间、术后并发症发生情况及膝关节活动度,采用Har... 详细信息

目的探讨桥接组合式内固定系统治疗股骨转子间骨折的临床疗效。方法采用桥接组合式内固定系统治疗22例股骨转子间骨折患者。记录手术时间、术中出血量、切口长度、术后引流量、骨折愈合时间、术后并发症发生情况及膝关节活动度,采用harris评分评价髋关节功能。结果患者均获得随访,时间6~14(11.1±2.3)个月。手术时间50~90(70.9±11.9)min,术中出血量80~400(206.4±83.8)ml,切口长度9~18(13.7±2.4)cm,术后引流量40~150(70.9±29.2)ml,骨折愈合时间10~17(13.1±1.5)周。切口均愈合良好,未发生感染、下肢深静脉血栓、骨折不愈合以及内固定松动、断裂等并发症。术后6个月采用harris评分评价髋关节功能:总分78~96(88.8±4.9)分,优15例,良5例,可2例,优良率20/22。末次随访时,膝关节屈曲110°~135°(125.8°±6.9°),伸直-10°~0°(-7.1°±2.9°)。结论桥接组合式内固定系统治疗股骨转子间骨折创伤小,固定可靠,患者功能恢复好,并发症少,临床效果确切。

关键词：桥接组合式内固定系统股骨转子间骨折复位内固定

不同术式治疗高位经括约肌肛瘘的临床效果观察

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结直肠肛门外科 2019年第5期25卷 553-557页

作者：刘远成张劲远朱竞李永海吕文辉彭西兰张承岳安徽医科大学第三附属医院肛肠科

目的分析经括约肌间引流挂线术、切割挂线术与肛门直肠瓣推移术治疗高位经括约肌肛瘘的临床效果。方法回顾性分析2013年7月至2016年7月在安徽医科大学第三附属医院肛肠科收治的41例高位经括约肌肛瘘患者临床资料,按照手术方式的不同,分... 详细信息

目的分析经括约肌间引流挂线术、切割挂线术与肛门直肠瓣推移术治疗高位经括约肌肛瘘的临床效果。方法回顾性分析2013年7月至2016年7月在安徽医科大学第三附属医院肛肠科收治的41例高位经括约肌肛瘘患者临床资料,按照手术方式的不同,分为括约肌间引流挂线组(采用经括约肌间引流挂线术,n=15),切割挂线组(采用切割挂线术,n=16)与肛门直肠瓣推移组(采用经肛门直肠瓣推移术,n=10)。比较三组术后疼痛持续时间、切口愈合时间以及术后12个月治愈率,记录三组术后3个月Wexner评分,分析三组术前及术后3个月的肛管静息压(ARP)、肛管最大收缩压(AMSP)、直肠静息压(RRP)及直肠初始感觉阈值(IST),初始排便阈值(IDT)及最大感觉阈值(MST)。结果切割挂线组的术后疼痛持续时间及伤口愈合时间最长,术后3个月Wexner评分最高,肛门直肠瓣推移组术后12个月治愈率低于切割挂线组(均P0.05)。三组间术前ARP、AMSP、RRP、IST、IDT及MST比较,差异均无统计学意义(均P>0.05)。三组术后ARP、AMSP、IST、IDT及MST较术前下降(均P0.05)。术后,切割挂线组ARP、AMSP最低,切割挂线组术后IST、IDT及MST低于括约肌间引流挂线组,切割挂线组IST低于肛门直肠瓣推移组(均P0.05)。结论相比于切割挂线术,保留肛门外括约肌的术式(经括约肌间引流挂线术或经肛门直肠瓣推移术)更有助于减轻高位经括约肌肛瘘患者术后疼痛,术后切口愈合时间较短,采用经括约肌间引流挂线术可同时获得较为理想的治愈率及术后肛门功能。

关键词：高位经括约肌肛瘘经括约肌间引流挂线术切割挂线术经肛门直肠瓣推移术

抗Ma2相关性脑炎的早期病理学表现和长期改善

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世界核心医学期刊文摘(神经病学分册) 2006年第12期 20-20页

作者： Blumenthal D.T. Salzman K.l. Digre K.B. J.Dalmau 郭俊 Dr.Department of Neurology Section Neuro-oncologyUniversity of Pennsylvania3 W.Gates3400 Spruce StreetPhiladelphiaPA 19104United States

A 67-year-old man sequentially developed anti-Ma2-assoc-iated paraneoplastic encephalitis(PNE)and contralateral herpes simplex encephalitis(HSE).Brain biopsy 1 month before HSE revealed extensive infiltrates of T cells,B cells,and plasma *** T cells expressed the cytotoxic granule-associated protein TIA-1 and the membranolytic protein *** recovery was thought to be unlikely,treatment of the PNE with corticosteroids and resection of the associated lung cancer resulted in dramatic improvement for 21 months.

关键词：脑炎 Ma2 相关性

低阻抗意念导入疗法治疗抑郁症的心理机制探讨

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国际中医中药杂志 2013年第6期35卷 490-492页

作者：林颖娜洪兰赵阳王芳吕学玉李桂侠刁倩汪卫东中国中医科学院广安门医院心理科北京100053

目的初步探索低阻抗意念导入疗法治疗抑郁症的心理机制。方法将60例抑郁症患者随机分为低阻抗状态下的意念导入疗法组（TIP组）和氢溴酸西酞普兰片组（对照组），疗程6个月，采用汉密尔顿抑郁量表（HAMD）评定疗效，明尼苏达多项人格量... 详细信息

目的初步探索低阻抗意念导入疗法治疗抑郁症的心理机制。方法将60例抑郁症患者随机分为低阻抗状态下的意念导入疗法组（TIP组）和氢溴酸西酞普兰片组（对照组），疗程6个月，采用汉密尔顿抑郁量表（HAMD）评定疗效，明尼苏达多项人格量表（MMPI）、五态人格量表评定作用机制。结果MMPI量表中疑病[TIP组治疗前后分别为（70．33±12．50）分、（60．45±11．94）分，对照组为（66．41±11．74）分、（57．95±11．66）分]、抑郁[TIP组治疗前后分别为（71．62±8．81）分、（61．45±11．13）分，对照组为（66．75±12．34）分、（54．75±11．80）分]、癔病[TIP组治疗前后分别为（71．75±8．32）分、（64．87±8．58）分，对照组为（67．70±9．51）分、（59．33±9．89）分]、精神病态[TIP治疗前后分别为（69．41±10．31）分、（60．70±13．19）分，对照组为（62．83±12．93）分、（56．04±12．39）分]、偏执[TIP组治疗前后分别为（60．16±7．64）分、（53．83±7．92）分，对照组为（58．79±12．88）分、（51．48±10．46）分]、精神衰弱[TIP组治疗前后分别为（70．91±9．07）分、（63．45±9．53）分，对照组为（64．58±10．91）分、（53．25±15．64）分]、精神分裂[TIP组治疗前后分别为（64．08±12．28）分、（58．70±12．55）分，对照组为（58．75±14．93）分、（51．95±11．89）分]有显著改善作用。氢溴酸西酞普兰片在改善MMPI量表中精神衰弱、精神分裂（如=2．484、P=0．021；Tsc=2．099、P=0．047）以及五态人格中太阳型、少阳型人格（T太阳=-2．175、P=0．040；T少阳=-2．066、P=0．049）方面优于TIP组。结论TIP治疗抑郁症的心理机制在于改善MMPI量表中疑病、抑郁、癔病、精神病态、偏执、精神衰弱、精神分裂因子。

关键词：低阻抗状态下的意念导入疗法抑郁症心理机制

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定制人工股骨头治疗股骨上段转移性肿瘤

临床骨科杂志 2012年第4期15卷 376-378页

作者：赵洪普徐秋玉曾勉东吕玉明钟志宏广州医学院第三附属医院骨科广东广州510150 广州中医药大学第一附属医院门诊部广东广州510405

目的探讨股骨上段转移性肿瘤定制人工股骨头置换治疗的近期疗效。方法对14例股骨上段转移性肿瘤患者行瘤段骨切除和定制人工股骨头置换手术治疗。肾功能正常患者术后2周开始二膦酸盐类药物口服,并对患者的临床表现、局部影像学、疼痛情... 详细信息

目的探讨股骨上段转移性肿瘤定制人工股骨头置换治疗的近期疗效。方法对14例股骨上段转移性肿瘤患者行瘤段骨切除和定制人工股骨头置换手术治疗。肾功能正常患者术后2周开始二膦酸盐类药物口服,并对患者的临床表现、局部影像学、疼痛情况及患侧肢体术后功能进行观察评定。结果术后患髋疼痛基本缓解,关节活动功能恢复满意,可满足日常行走和负重需要。14例均获随访,时间6～38个月。随访期内无假体松动、脱位及假体周围骨折等发生,手术局部肿瘤无复发。术后3个月时髋关节harris评分:优4例,良9例,可1例。结论对股骨近段转移性肿瘤采用定制人工股骨头重建,可有效缓解疼痛,保留肢体功能,提高生存质量。

关键词：骨肿瘤关节成形术股骨近端置换

RPGR外显子ORF15突变引起X染色体连锁视锥-视杆细胞营养不良的组织病理学研究

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世界核心医学期刊文摘（眼科学分册） 2005年第7期1卷 22-22页

作者： Demirci F.Y.K. Gupta N. Radak A.l. M.B. Gorin 张鹏 UPMC Eye Center University of Pittsburgh EEINS Building 203 Lothrop St. Pittsburgh PA 15213 United States

Purpose: To evaluate the donor retina of a patient with X- linked cone- rod dystrophy caused by an RPGR exon ORF15 mutation. Design: Histopathologic study of the retina. Methods: The eye of a 69- year- old man was fixed at 1.6 hours postmortem and processed for histopathology and immunocytochemistry. Results: Grossly, the macula was atrophic with a bull’ s- eye appearance. The remaining retina showed postmortem edema but no intraretinal pigment. Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. In the remainder of the retina, cones but not rods were reduced and all photoreceptor outer segments were shortened. Conclusions: The abnormalities in both cone and rod photoreceptors confirm the importance of RPGRin both cell types but leaves unresolved how various exon ORF15 mutations lead to different clinical phenotypes.

关键词：视杆细胞 ORF15 RPGR X染色体连锁病理学研究视锥光感受器外节黄斑部中心凹