背景： 肢帶型肌營養(yǎng)不良癥LGMD是一組以肢帶肌受累為共同特征的疾病,但因其臨床表現(xiàn)各異,一些研究者對(duì)其學(xué)術(shù)定義的合理性尚有爭(zhēng)議。本文將從研究歷史、疾病分類、病理生理、診斷、預(yù)防、治療及未來研究前景幾個(gè)方面對(duì)本病進(jìn)行闡述；并對(duì)那些使這類遺傳病從理論研究走向臨床應(yīng)用的新技術(shù)和在動(dòng)物模型上取得令人難以置信的恢復(fù)的研究予以特別關(guān)注�？傊�,在過去的幾十年間LGMD研究進(jìn)展迅速。隨著研究團(tuán)隊(duì)的增多,世界范圍內(nèi)的患者登記、對(duì)患者的定期隨訪、LGMD亞型診斷標(biāo)準(zhǔn)的完善以及對(duì)LGMD病理生理過程認(rèn)識(shí)的不斷深入,相信接下來幾年,我們將切實(shí)改善本病的轉(zhuǎn)歸。同時(shí)我們對(duì)中國的LGMD情況及其分子診斷和病理生理學(xué)研究進(jìn)展也給予特別的介紹。 歷史上,Walton和Nattrass在1954年首次以肢帶型肌營養(yǎng)不良來命名這樣一組疾�。耗信砂l(fā)�。煌ǔＴ�30歲以內(nèi)起��；首發(fā)表現(xiàn)為肩胛部、骨盆及軀干肌肉罕見假性肥大,但面肌常不受累；病情進(jìn)展相對(duì)緩慢；遺傳方式為常染色體隱性遺傳。1995年歐洲神經(jīng)肌病中心工作組制定了更嚴(yán)格的LGMD診斷和分類標(biāo)準(zhǔn)。根據(jù)遺傳學(xué)特征將不同的LGMD亞型分組。 LGMD不是同質(zhì)性疾病,我們可...

【文章頁數(shù)】：210 頁

【學(xué)位級(jí)別】：博士

【文章目錄】：
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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