中国东北地区肢带型肌营养不良症

发布时间：2024-05-09 01:24

　　背景： 肢带型肌营养不良症LGMD是一组以肢带肌受累为共同特征的疾病,但因其临床表现各异,一些研究者对其学术定义的合理性尚有争议。本文将从研究历史、疾病分类、病理生理、诊断、预防、治疗及未来研究前景几个方面对本病进行阐述；并对那些使这类遗传病从理论研究走向临床应用的新技术和在动物模型上取得令人难以置信的恢复的研究予以特别关注。总之,在过去的几十年间LGMD研究进展迅速。随着研究团队的增多,世界范围内的患者登记、对患者的定期随访、LGMD亚型诊断标准的完善以及对LGMD病理生理过程认识的不断深入,相信接下来几年,我们将切实改善本病的转归。同时我们对中国的LGMD情况及其分子诊断和病理生理学研究进展也给予特别的介绍。 历史上,Walton和Nattrass在1954年首次以肢带型肌营养不良来命名这样一组疾病：男女均可发病；通常在30岁以内起病；首发表现为肩胛部、骨盆及躯干肌肉罕见假性肥大,但面肌常不受累；病情进展相对缓慢；遗传方式为常染色体隐性遗传。1995年欧洲神经肌病中心工作组制定了更严格的LGMD诊断和分类标准。根据遗传学特征将不同的LGMD亚型分组。 LGMD不是同质性疾病,我们可...

【文章页数】：210 页

【学位级别】：博士

【文章目录】：
中文摘要
Abstract
Chapter1 Introduction
    1.1 -Research Significance
    1.2 -Research Objectives
    1.3 -Research questions
    1.4 -Anticipated research contribution
        1.4.1 -contribution to research
        1.4.2 -contribution to clinic
    1.5 -Thesis structure
Chapter2 Limb-Girdle Muscular Dystrophies:Where Next after Six Decades of FirstProposal?(Literature Review)
    2.1 -Introduction
    2.2 -Historical background
    2.3 -Definition
    2.4 -Mechanism of action
    2.5 -pathophysiology
    2.6 -New disease markers
    2.7 -Disease Prevalence
    2.8 -Genotype-phenotype correlation
    2.9 -Diagnostic strategy
        2.9.1 -Clinical
        2.9.2 -Biochemical,imaging and electrophysiological studies
        2.9.3 -Muscle biopsy:Light,confocal and electron microscopy
        2.9.4 -Immunohistochemistry(IHC)and western blot(WB)assays
        2.9.5 -Genetic diagnosis
    2.10 -Prevention & Surveillance
    2.11 -Management
    2.12 -LGMD in China
    2.13 -Conclusion
    2.14 -Future perspectives
Chapter3 Certain Morphological Features in Limb-Girdle Muscular Dystrophies Are NotShared by Polymyositis:Useful Diagnostic Clues
    3.1 -Introduction
    3.2 -Materials and Methods
        3.2.1 -patients
        3.2.2 -Muscle biopsies
        3.2.3 -Statistical analysis
    3.3 -Results
    3.4 -Discussion
    3.5 -conclusion
    3.6 -Future perspectives
Chapter4 Limb-girdle Muscular Dystrophy Subtypes:Un-preceded Cohort inNortheastern Chinese Population
    4.1 -Introduction
    4.2 -Subjects and methods
        4.2.1 -Design
        4.2.2 -Time and settings
        4.2.3 -Subjects
        4.2.4 -Methods(See Chapter 2 methods for full details)
    4.3. Results
        4.3.1 -Quantitative analysis of subjects
        4.3.2 -protein analyses
        4.3.3 -Clinical features
        4.3.4 -Pathological features
        4.3.5 -laboratory results
    4.4 -Discussion
        4.4.1 -Immunohistochemistry and immunoblot
        4.4.2 -Statistics
        4.4.3 -CliniCal Features
        4.4.4 -Morphologically
        4.4.5 -Biochemically
        4.4.6 -Novel findings
    4.5 -Conclusion
    4.6 -Future perspectives
Chapter5 Dysferlinopathies in Northeastern China:Genetically Confirmed Cases fromHan Chinese Ethnicity
    5.1 -Introduction
    5.2 -Methods(See Chapter 2 methods for full details)
        5.2.1 -Muscle biopsies
        5.2.2 -Immunohistochemistry
        5.2.3 -immunoblot
        5.2.4 -Blot analysis
        5.2.5 -Gene mutation analysis
    5.3 -Materials
        Patients
    5.4 -Results
        5.4.1 -Clinical features
        5.4.2 -Muscle biopsies
        5.4.3 -Protein testing
        5.4.4 -Mutation screening results
    5.5 -Discussion
    5.6 -conclusion
    5.7 -Future perspectives
Summary
Novel findings
References
Appendixes
    Appendix 1
    Appendix 2
    Appendix 3
Curriculum vitae
    Personal information
    Education
    Certificate of training course
    Publications
Acknowledgments



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