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Clinical,Neuroimaging,and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations

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Chinese Medical Journal 2018年第22期131卷 2705-2712页

作者： Xiao-Lin Yu Chuan-Zhu Yan Kun-Qian Ji Peng-Fei Lin Xue-Bi Xu Ting-Jun Dai Wei Li Yu-Ying Zhao Department of Geriatrics Medicine Qilu HospitalShandong UniversityJinanShandong 250012China Department of Neurology Research Institute of Neuromuscular and Neurodegenerative DiseasesQilu HospitalShandong UniversityJinanShandong 250012China Key laboratory of Cardiovascular Proteomics of Shandong Province Qilu HospitalShandong UniversityJinanShandong 250012China Mitochondrial Medicine laboratory Qilu Hospital (Qingdao)Shandong UniversityQingdaoShandong 266035China Brain Science research Institute Shandong UniversityJinanShandong 250012China

Background: Leigh syndrome(LS) is a rare disease caused by mitochondrial defects and has high phenotypic and genotypic *** analyzed the clinical symptoms, neuroimaging, muscular histopathology, and genotypes of 13 Chinese LS patients with mitochondrial DNA(mtDNA) ***: Mutations in mtDNA were identified by targeted sequencing. The brain imaging features on magnetic resonance imaging(MRI)were analyzed. The levels of lactate in fasting blood and cerebrospinal fluid(CSF) were routinely tested. The levels of urinary organic acids, plasma amino acids, and acylcarnitines were examined with gas chromatography–mass spectrometry and tandem mass *** histopathological traits of skeletal muscles were analyzed under ***: Among 13 patients, mutations of MT?NDs(n = 8) and MT?ATP6(n = 4) genes were most common. Strabismus(8/13), muscle weakness(8/13), and ataxia(5/13) were also common, especially for the patients with late?onset age after 2 years old. However, respiratory distress was common in patients with early?onset age before 2 years old. The most frequently affected brain area in these patients was the brain stem(12/13), particularly the dorsal part of midbrain, followed by basal ganglia(6/13), thalamus(6/13), cerebellum(5/13),and supratentorial white matter(2/13). Besides, the elevated lactate levels in CSF(6/6) were more common than those in serum(7/13).However, the analysis of abnormal plasma amino acid and urinary organic acid showed limited results(0/3 and 1/4, respectively). Muscular histopathology showed mitochondrial myopathy in the three late?onset patients but not in the early?onset ***: Noninvasive genetic screening is recommended for mtDNA mutations in MT?NDs and MT?ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. Furthermore, the lactate detection in CSF and the brain MRI scanning are suggested as the diagnosis methods for LS patients with mtDNA mutat

关键词： Clinical Features Leigh Syndrome Mitochondrial DNA Neuroimaging Pathology

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Function of shoulder muscles of driver in vehicle steering maneuver

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Science China(Technological Sciences) 2012年第12期55卷 3445-3454页

作者： LIU YaHui JI XueWu RYOUHEI Hayama TAKAHIRO Mizuno LOU LiMing State Key laboratory of Automotive Safety and Energy Tsinghua UniversityBeijing 100084China research and Development Center JTEKT Co.Ltd.Nara 634-8555Japan

In order to study the function of muscles of driver shoulder during vehicle steering, identification of relations between electromyograph (EMG) activity of 10 shoulder muscles and steering force was performed. The procedure was to perform controlled steering maneuver by right hand in a driving simulator, and based on analyzing the EMG data with steering force in the steering wheel plane, the function was identified. It was found that muscle function depends strongly on both steering rotation and steering torque directions. In clockwise steering, the long head of triceps brachii was the prime mover and an important contributor to clockwise moment, while the sternocostal portion of the pectoralis major, the lateral head of triceps brachii, biceps brachii and teres major were the important stabilizers or fixators. In contrast, in counterclockwise steering, the anterior, middle and posterior deltoid, the clavicular portion of the pectoralis major and infraspinatus were the prime movers and also the important contributors to counterclockwise moment, while the sternocostal portion of the pectoralis major, the lateral head of triceps brachii, biceps brachii and teres major were the important stabilizers or fixators. We conclude that the prime movers are primarily a consequence of steering direction, while the stabilizers or fixators are primarily constant. These results can be used to improve the neuromuscular model and estimate the steering comfort of driver.

关键词： electromyograph muscle function steering maneuver

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Effects of Muscle Electrical Activity on the Transmission of Developing neuromuscular Junction

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Science China Chemistry 1994年第5期37卷 573-580页

作者：汤云贵谢佐平毛健何展全赵南明 State Key laboratory of Biomembrane and Membrane Biotechnique Department of Biological Sciences and Biotechnology Tsinghua University Beijing 100084 PRC

Miniature endplate potentials (MEPPS) caused by the spontaneous release of ACh from the growth cone of cholinergic neurons, are recorded by the whole-cell patch-clamp technique on a large number of 1-day cultured myoballs which have contact neurites of co-cultured neurons. Both muscle cell and neuron are dissociated from the 1-day-old (about stage 20) Xenopus embryo. Frequency and/or amplitude of MEPPs can obviously increase after the repetitive high-level depolarization caused by the stimuli on muscle cells. No detectable changes of single ACh receptor channel property are observed by using the single-channel recording technique. These results suggest that the mechanism of the increase of MEPPs after electrical activity of postsynaptic muscle cells probably involve some alteration of presynaptic membrane.

关键词： electrical activity of muscle cell patch-clamp technique miniature endplate potentials (MEPPs) acetylcholine (ACh) receptor channel.

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REFERRAL GUIDELINES FOR ELECTRODIAGNOSTIC MEDICINE CONSULTATIONS

REFERRAL GUIDELINES FOR ELECTRODIAGNOSTIC MEDICINE CONSULTAT...

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中国康复医学会电诊断专业委员会换届暨学术研讨会

作者： the American Association of neuromuscular & Electrodiagnostic Medicine the American Association of neuromuscular ＆ Electrodiagnostic Medicine

＜正＞INTRODUCTION These guidelines are designed to help physicians determine if referral for an electrodiagnostic medicine （EDX） consultation could be useful for a *** EDX consultation evaluates nerve and muscle fu... 详细信息

关键词： neuropathies radiculopathies plexopathy myopathy

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SLC33A1 ***113Arg(c.339T>G) mutation leads to neurod egeneration and accelerates injury-induced peripheral nerv e axonal regrowth in mice by modulating BMP signaling

SLC33A1 ***113Arg(c.339T>G) mutation leads to neurod egenera...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Liu Pingting Jiang Baichun Ma Jian Lin Pengfei Shao Changshun Sun Wenjie Gong Yaoqin The Key laboratory of Experimental Teratology Ministry of Education and Department of Genetics Shando ng University School of Medicine laboratory of neuromuscular Disorders and Department of Neurology Qilu Hospital Shandong University

Objective The mutation ***113 Arg(S113 R)(c.339 T>G)(MIM #603690.0001) in SLC33 A1(MI M #603690), an ER membrane acetyl-Co A transporter,has been previously identified in patients with hereditary spastic paraplegiatype 42(SPG42;MIM #612539). SLC33 A1 has also been recog nized as a novelinhibitory factor of bone morphogenetic protein(BMP) signaling pathway in zebra fish. Method To better understand the function of SLC33 A1, we generated and characterized Slc33 a1 S113 R knock-in mice. Next,we addressed whether modulation of BMP signaling by SLC33 A1 co uld influence peripheral nerve regeneration by using a mouse sciatic nerve crush injury model. Result Homozygous Slc33 a1 mutant mice were embryonic lethal, suggesting that SLC33 A1 is es sential for early embryonic development. While heterozygous Slc33 a1 mutant mice(Slc33 a1 wt/m ut) exhibited behavioral abnormalities and central neurodegeneration, no obvious abnormalities w ere found in the peripheral nerve. Results obtained with sciatic nerve crush injury model and dors al root ganglion(DRG) explants showed that Slc33 a1 wt/mut mice exhibited accelerated axonal re generation after sciatic nerve crush injury. Furthermore, we found an upregulation of BMP signali ng in the nervous system of Slc33 a1 wt/mut mice. Noggin, an endogenous BMP signaling antagon ist, could fully reverse the accelerated sciatic nerve regeneration after crush injury in Slc33 a1 wt/m ut mice. Conclusion These results indicated that SLC33 A1 can negatively regulate BMP signaling during axonal regeneration in mice, which may serve as a potential therapeutic agent for the treatment of SLC33 A1-related hereditary spastic paraplegia.

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Direct anterior approach vs Hardinge in obese and nonobese osteoarthritic patients:A randomized controlled trial

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World Journal of Orthopedics 2021年第11期12卷 877-890页

作者： George Macheras Sophia Stasi Michail Sarantis Athanasios Triantafyllou Dimitrios Tzefronis Stamatios A Papadakis 4^(th) Orthopaedic Department “KAT”General Hospital of AtticaAthens 14561KifissiaGreece laboratory of neuromuscular and Cardiovascular Study of Motion(LANECASM) Physiotherapy DepartmentUniversity of West AtticaAthens 12243EgaleoGreece 2^(nd) Orthopaedic Department “KAT”General Hospital of AtticaAthens 14561KifissiaGreece

BACKGROUND The increased prevalence of obesity has resulted in orthopedic surgeons being likely to face many patients with a high body mass index(BMI)who warrant total hip arthroplasties(THAs)over the coming ***'findings considered the postoperative clinical,and functional outcomes in these patients are controversial,and selecting the most appropriate surgical approach remains *** To compare pain-levels,functionality,and quality-of-life in obese and nonobese osteoarthritic patients who have undergone primary total hip arthroplasty through either direct-anterior-approach(DAA)or *** One hundred and twenty participants(>50 years)were divided into four groups according to the surgical approach(DAA or Hardinge)and patients'BMI(nonobese<30 kg/m^(2)vs obese≥30 kg/m^(2)).Outcomes were measured preoperatively and postoperatively(6^(th)and 12^(th)week).Pain was measured with Face Pain Scale-Revised(FPS-R).Functionality was measured with Timed Up&Go(TUG)test and Modified Harris Hip Score-Greek version(MHHS-Gr).Quality-of-life was evaluated with the 12-item-International Hip Outcome Tool-Greek version(iHOT12-Gr)(Clinical Trial Identifier:ISRCTN15066737).RESULTS DAA vs Hardinge:(week 6)DAA-patients showed 12.2% less pain,more functionality(14.8% shorter TUG-performance time,21.5% higher MHHS-Gr),and 38.16% better quality-of-life(iHOT12-Gr)compared to Hardinge-patients(all P values<0.001).These differences were further increased on week 12(all P values≤0.05).DAA-obese vs Hardinge-obese:(week 6)DAA-obese patients had less pain,shorter TUG-performance time,better MHHS-Gr and iHOT12-Gr scores than Hardinge-obese(all P values<0.01).(Week 12)Only the TUG-performance time of DAA-obese was significantly shortened(22.57%,P<0.001).DAAnonobese vs DAA-obese:no statistically significant differences were observed comparing the 6th and 12th weeks'*** DAA-groups reported less pain,more functionality and better quality-of-life,compared to

关键词： Total hip arthroplasty Osteoarthritis Obesity Pain Functional ability Quality-of-life

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家族性肌萎缩侧索硬化症转基因鼠的繁殖和鉴定

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南方医科大学学报 2006年第3期26卷 258-260,265页

作者：黄慧张成席静姚晓黎邱国光熊符中山大学附属第一医院神经内科 laboratory for neuromuscular research Massachusetts General Hospital EastBldg11416th StCharlestownMAUSA02129 中山大学实验动物中心

目的建立家族性肌萎缩侧索硬化症(FALS)转基因模型鼠的繁育方法,并对其子代鼠进行基因鉴定。方法(1)以6只B6SJL SOD1G93A/+半合子雄鼠与6只B6SJLF1/J+/+雌鼠(1∶1)交配;(2)由鼠尾血提取基因组DNA,PCR扩增hmSOD1基因的片段,电泳后观察结... 详细信息

目的建立家族性肌萎缩侧索硬化症(FALS)转基因模型鼠的繁育方法,并对其子代鼠进行基因鉴定。方法(1)以6只B6SJL SOD1G93A/+半合子雄鼠与6只B6SJLF1/J+/+雌鼠(1∶1)交配;(2)由鼠尾血提取基因组DNA,PCR扩增hmSOD1基因的片段,电泳后观察结果;(3)对PCR产物进行纯化测序,并通过BLAST验证。结果6对种鼠交配产鼠仔53只,存活率为98%(52/53);G93A hmSOD1阳性鼠约占44.2%(23/52);PCR扩增产物分别为内对照(IL-2):324 bp;Tg(hmSOD1):236 bp;测序证实PCR产物的基因序列和hmSOD1基因片段中的序列一致,并存在G93A突变。结论B6SJL-Tg(SOD1-G93A)1Gur/J雄鼠与B6SJLF1/J雌鼠配种能成功繁育出Tg(hmSOD1)阳性的ALS半合子子代鼠;本实验的PCR法能准确鉴定hmSOD1基因阳性鼠,并证实该转入的基因按近似孟德尔方式遗传,为ALS实验研究奠定了基础。

关键词：肌萎缩侧索硬化症繁殖小鼠转基因基因鉴定

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Myelin Oligodendrocyte Glycoprotein-IgG Contributes to Oligodendrocytopathy in the Presence of Complement, Distinct from Astrocytopathy Induced by AQP4-IgG

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Neuroscience Bulletin 2019年第5期35卷 853-866页

作者： Ling Fang Xinmei Kang Zhen Wang Shisi Wang Jingqi Wang Yifan Zhou Chen Chen Xiaobo Sun Yaping Yan Allan G. Kermode Lisheng Peng Wei Qiu Department of Neurology The Third Affiliated Hospital of Sun Yat-sen University Guangzhou 510000 China Department of Neurology Xuanwu Hospital Capital Medical University Beijing 100053 China Key laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest China College of Life Sciences Shaanxi Normal University Xi’an 710119 China Department of Neurology Centre for Neuromuscular and Neurological Disorders Queen Elizabeth II Medical Centre Sir Charles Gairdner Hospital University of Western Australia Perth WA 6009 Australia

Immunoglobulin G against myelin oligodendrocyte glycoprotein(MOG-Ig G) is detectable in neuromyelitis optica spectrum disorder(NMOSD) without aquaporin-4 Ig G(AQP4-Ig G), but its pathogenicity remains *** this study, we explored the pathogenic mechanisms of MOG-Ig G in vitro and in vivo and compared them with those of AQP4-Ig G. MOG-Ig G-positive serum induced complement activation and cell death in human embryonic kidney(HEK)-293 T cells transfected with human MOG. In C57 BL/6 mice and Sprague-Dawley rats, MOG-Ig G only caused lesions in the presence of complement. Interestingly, AQP4-Ig G induced astroglial damage, while MOGIg G mainly caused myelin loss. MOG-Ig G also induced astrocyte damage in mouse brains in the presence ofcomplement. Importantly, we also observed ultrastructural changes induced by MOG-Ig G and AQP4-Ig G. These findings suggest that MOG-Ig G directly mediates cell death by activating complement in vitro and producing NMOSDlike lesions in vivo. AQP4-Ig G directly targets astrocytes,while MOG-Ig G mainly damages oligodendrocytes.

关键词： Neuromyelitis optica spectrum disorder Aquaporin-4 immunoglobulin G Myelin oligodendrocyte glycoprotein immunoglobulin G Complement-dependent cytotoxicity Transmission electron microscopy

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Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy

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World Journal of Pediatrics 2014年第2期10卷 126-132页

作者： Yan-Zhi Zhang Dan-Hua Zhao Hai-Po Yang Ai-Jie Liu Xing-Zhi Chang Dao-Jun Hong Carsten Bonnemann Yun Yuan Xi-Ru Wu Hui Xiong Department of Pediatrics Peking University First HospitalBeijingChina Department of Neurology Peking University First HospitalBeijingChina neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke/NIHUSA

Background:We determined the clinical and molecular genetic characteristics of 8 Chinese patients with Ullrich congenital muscular dystrophy(UCMD).Methods:Clinical data of probands were collected and muscle biopsies of patients were *** of COL6A1,COL6A2 and COL6A3 were analyzed by direct *** in COL6A1,COL6A2 and COL6A3 were identifi ed in 8 ***:Among these mutations,5 were novel[three in the triple helical domain(THD)and 2 in the second C-terminal(C2)domain].We also identified five known missense or in-frame deletion mutations in THD and C *** studies on muscle biopsies from patients showed reduced level of collagen VI at the muscle basement membrane and mis-localization of the protein in interstitial and perivascular ***:The novel mutations we identified underscore the importance of THD and C2 domains in the assembly and function of collagen VI,thereby providing useful information for the genetic counseling of UCMD patients.

关键词： collagen VI in-frame missense triple helical domain Ullrich congenital muscular dystrophy

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Functional Ankle Instability Prevalence and Associated Risk Factors in Male Football Players

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Open Journal of Orthopedics 2020年第4期10卷 77-92页

作者： A. Cruz R. Oliveira A. G. Silva School of Health Sciences University of Aveiro Campus Universitário de Santiago Aveiro Portugal laboratory of neuromuscular Function Faculdade de Motricidade Humana Universidade de Lisboa Lisboa Portugal Centro Hospitalar e Universitário de Coimbra Coimbra Portugal neuromuscular research Lab CIPER Faculdade de Motricidade Humana Universidade de Lisboa Lisboa Portugal CINTESIS.UA University of Aveiro Campus Universitário de Santiago Aveiro Portugal

Background: The injuries sustained in football most frequently occur to the lower extremity, with ankle and knee being the most affected joint segments. Many studies have defined ankle sprain as one of the most common sports injuries with an annual incidence rate of 15% to 45%, however, there’s a lack of studies in football regional leagues. Risk factors like anthropometric measures, field position, dominant limb, previous injury have been described as being associated with ankle injuries in the elite sports context. The primary aim of this study was to determine prevalence rates of self-reported ankle instability in regional leagues. A secondary aim was to explore the presence of extrinsic factors affecting ankle instability in these football players. Methods: The heads of all clubs (n = 66) from Coimbra and Aveiro (Portugal) regional male senior football divisions during season 2016/2017 were contacted by e-mail or telephone to enter the study, and 58 gave their permission to include their athletes. Then, all players from each of these 58 teams were invited to enter the study (n = 1044) and a total of 589 athletes participated. Demographic and anthropometric data were recorded concerning age, height, weight, years of training, mean number of training hours, position in camp along with specific questions related to an ankle injury. All participants were asked about their previous history of injury, reinjury, feeling of giving-away and where also asked to fill the Cumberland Ankle Instability Tool. Results: A total of 290 (49.2%) athletes reported a history of at least one previous sprain and, from these, 170 (58.6%) repeated the injury and 112 (19%) reported sensation of “giving-away”. A significant association was found between injury, recurrence and subjective feeling of giving away (p < 0.05). The player field’s position was found to be associated with ankle instability, with defenders and forwards having higher rates of self-reported instability. No other signi

关键词： Chronic Ankle Instability Epidemiologic Study Injury Prevention Football

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