检索结果-南通市图书馆

Relevance of muscle biopsy for diagnosing multifocal motor neuropathy

在线全文

学校读者我要写书评

暂无评论

Chinese Medical Journal 2014年第10期127卷 1994-1996页

作者： Josef Finsterer Marlies Frank 1 st Medical Department Krankenanstalt RudolfstiRung (Finsterer J) 1180 Vienna Austria

Multifocal motor neuropathy （MMN） is a rare,.focal,inflammatory,demyelinating disease of the peripheral nerves with pure motor involvementJ MMN is clinically characterized by slowly progressive,asymmetric,distal,upper limb predominant weakness,in the absence of sensory disturbances） Weakness is usually multifocal and connected to a distinct motor nerve,such as the musculocutaneous nerve resulting in biceps weakness,the posterior interosseus nerve resulting in finger drop,the median,ulnar,or radial nerve resulting in dexterity problems or grip weakness,or the peroneal nerve resulting in a foot *** of clinical manifestations is between 20 and 50 years of *** prevalence of MMN is reported as 1-2 per 100 000.2 MMN is three times more frequent in men as compared to women.

关键词： immune neuropathy conduction block nerve conduction studies electromyography muscle biopsy diagnosis

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

在线全文

学校读者我要写书评

暂无评论

Genes & Diseases 2021年第5期8卷 715-720页

作者： Haoyue Xu Hang Liu Tao Chen Bo Song Jin Zhu Xing Liu Ming Li Cong Luo Department of Orthopedic Chongqing Children’s HospitalChongqing Medical UniversityNo.136 of Zhong Shan Er LuChongqing400014PR China Department of Pathology Chongqing Children’s HospitalChongqing Medical UniversityNo.136 of Zhong Shan Er LuChongqing400014PR China Molecular Oncology Laboratory Department of Orthopaedic SurgeryThe University of Chicago Medical CenterChicagoIL 60637USA

According to existing reports,mutations in the slow tropomyosin gene(TPM3)may lead to congenital fiber-type disproportion(CFTD),nemaline myopathy(NM)and cap myopathy(CD).They are all congenital myopathies and are associated with clinical,pathological and ge-netic heterogeneity.A ten-year-old girl with scoliosis was unable to wean from mechanical ventilation after total intravenous *** girl has scoliosis,respiratory insufficiency,motion delay and muscle weakness;her younger brother has a similar physiology but does not have scoliosis or respiratory insufficiency,and her parents are *** conducted genetic testing and found a c.502C>G(p.R168G)heterozygous mutation in the *** mutation originated from the father and was autosomal *** biopsy results indicated that no special structures were present,and the type I fiber ratio was not notably high compared to previous *** the family members have the same mutations,their clinical mani-festations are quite different.

关键词： Congenital myopathies Heterogeneity muscle biopsy Mutation Therapy TPM3

Skeletal muscle Fiber Type and Morphology in a Middle-Aged Elite Male Powerlifter Using Anabolic Steroids

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Journal of Science in Sport and Exercise 2021年第4期3卷 404-411页

作者： Steven B.Machek Kent A.Lorenz Marialice Kern Andrew J.Galpin James R.Bagley muscle Physiology Laboratory Department of KinesiologyCollege of Health and Social SciencesSan Francisco State University1600 Holloway AvenueGym 101San FranciscoCA 94132USA Exercise and Biochemical Nutrition Laboratory Department of HealthHuman Performanceand RecreationRobbins College of Health and Human SciencesBaylor UniversityWacoTXUSA Biochemistry and Molecular Exercise Physiology Laboratory Center for Sport PerformanceCalifornia State UniversityFullertonUSA

Powerlifting regularly exposes athletes to extreme stimuli such as chronic heavy resistance training(HRT),and many powerlifters choose to augment their performance with anabolic-androgenic steroids(AAS).However,little is known about the myocellular adaptations that occur from long-term HRT and AAS use,especially into middle *** were presented with the unique opportunity to study muscle cells from an elite-level powerlifter(EPL;age 40 years)with≥30 years of HRT experience and≥15 years of AAS *** purpose of this case study was to identify myocellular characteristics[myosin heavy chain(MHC)fiber type,fiber size,and myonuclear content]in EPL,as well as compare these data to existing *** participant underwent a resting vastus lateralis muscle biopsy and single fibers were analyzed for MHC content via SDS-PAGE.A subset of fibers underwent MHC-specific imaging analysis via confocal microscopy to identify cell size(cross-sectional area,CSA)and myonuclear domain(MND)*** fiber type distribution was 9% I,12% I/IIa,79% IIa,and 0% other *** pure MHC IIa(fast-twitch)fiber content was amongst the highest reported in the *** analysis of MHC IIa fibers revealed a mean CSA of 4218±933μm^(2) and MND of 12,548±3181μm^(3).While the fast-twitch fiber CSA was comparable to values in previous literature,mean MND was smaller than has been reported in untrained men,implying greater capacity for growth and *** findings showcase the unique muscle cell structure of an elite powerlifter,extending the known physiological limits of human muscle size and strength.

关键词： Resistance training Myonuclear domain Myonuclei Myosin heavy chain Confocal microscopy muscle biopsy

Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2015年第13期128卷 1820-1825页

作者： Ying-Xin Wang Wei-Dong Le Department of Neurology The First Affiliated Hospital of Dalian Medical University Dalian Liaoning 116011 China Center for Translational Research of Neurology Disease The First Affiliated Hospital of Dalian Medical University Dalian Liaoning 116011 China

Objective： Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes （MELAS） is a progressive, multisystem affected mitochondrial disease associated with a number of disease-related defective genes. M ELAS has unpredictable presentations and clinical course, and it can be commonly misdiagnosed as encephalitis, cerebral infarction, or brain neoplasms. This review aimed to update the diagnosis progress in MELAS, which may provide better understanding of the disease nature and help make the right diagnosis as well. Data Sources： The data used in this review came fi-om published peer review articles from October 1984 to October 2014, which were obtained fiom PubMed. The search term is ＂MELAS＂, Study Selection： lnfornmtion selected from those reported studies is mainly based on the progress on clinical tkatures, blood biochemistry, neuroimaging, muscle biopsy, and genetics in diagnosing MELAS. Results： MELAS has a wide heterogeneity in genetics and clinical manifestations. The relationship between mutations and phenotypes remains unclear. Advanced serial functional magnetic resonance imaging （MRI） can provide directional information on this disease. muscle biopsy has meaningflil value in diagnosing MELAS, which shows the presence of ragged red fibers and mosaic appearance of cytochrome oxidase negative fibers. Genetic studies have reported that approximately 80% of MELAS cases are caused by the lnutation in.3243A〉G of the mitochondrial transfer RNA （Leu （UU R）） gene （MT-TLI）. Conclusions： MELAS involves multiple systems with variable clinical symptoms and recurrent episodes. The prognosis of MELAS patients depends on timely diagnosis. Therefore, overall diagnosis of MELAS should be based on the maternal inheritance family history, clinical manifestation, and findings from serial MR1, muscle biopsy, and genetics.

关键词： Functional Magnetic Resonance Imaging Genetics Mitochondria Mitochondrial Myopathy, Encephalopathy, LacticAcidosis and Stroke-like Episodes muscle biopsy

Type ⅡB human skeletal muscle fibers positively correlate with bone mineral density irrespective to age

在线全文

学校读者我要写书评

暂无评论

Chinese Medical Journal 2010年第21期123卷 3009-3014页

作者： Wing-Hoi Cheung Wing-Sze Lee Ling Qin Ning Tang Vivian Wing-Yin Hung Kwok-Sui Leung Department of Orthopaedics and Traumatology The Chinese University of Hong Kong Shatin Hong Kong China

Background Age-associated decrease in type ⅡA/B human skeletal muscle fibers was detected in human biopsies in our previous study. The relationship between change in muscle fiber typing and bone mineral density （BMD） is, however,unknown either cross-sectionally or longitudinally. We therefore conducted a cross-sectional study to investigate their correlation using human muscle *** Forty human subjects aged （53.4±20.2） years were recruited. Histomorphometric parameters of their muscle biopsies were measured by ATPase staining and image analysis, including average area percentage, fiber number percentage, mean fiber area, and area percentage of connective tissues. Hip and spine BMD was measured by dual-energy X-ray absorptiometry. Partial correlation with adjusting age was *** Type ⅡB muscle fiber was found positively correlated with hip BMD irrespective to age and demonstrated significantly stronger relationship with BMD among all fiber types, in terms of its cross-sectional area （r=0.380, P=0.029）and size （r=0.389, P=0.025）. Type ⅡA muscle fibers associated with hip BMD in mean fiber area only （r=0.420, P=0.015）.Conclusions Type ⅡB muscle fiber may play an important role in maintaining bone quality. This may also be a relatively more sensitive fiber type of sarcopenia and osteoporosis. These findings further consolidate the muscle-bone relationship.

关键词： type ⅡB muscle fiber bone mineral density muscle biopsy sarcopenia osteoporosis