本文選題：基于體素的形態(tài)學(xué)分析　切入點：灰質(zhì)　出處：《南方醫(yī)科大學(xué)》2017年碩士論文　論文類型：學(xué)位論文

【摘要】：第一部分ELP4基因多態(tài)性對BECTS的灰質(zhì)結(jié)構(gòu)影響的形態(tài)學(xué)研究[目的]采用基于體素的形態(tài)學(xué)分析(VBM)觀察ELP4 rs964112不同基因型的患兒和正常兒童灰質(zhì)結(jié)構(gòu)的差異,通過評估灰質(zhì)結(jié)構(gòu)、腦電、視聽整合連續(xù)測試(IVA+CPT)和瑞文標準推理測驗的結(jié)果差異,探討風(fēng)險基因型在伴中央顳區(qū)棘波的兒童良性癲癇(BECTS)中的作用機制及其對認知功能的影響。[材料和方法]本研究納入68例BECTS和89例正常兒童志愿者,使用MRI采集高分辨率T1結(jié)構(gòu)像(3DT1),并對部分BECTS采集1000s同步EEG-fMRI數(shù)據(jù)。采用VBM8軟件對3DT1像進行配準、切割和預(yù)處理后得到每個被試的灰質(zhì)圖像,同時處理并讀取腦電數(shù)據(jù)。對部分被試行IVA+CPT和瑞文標準推理測驗。采用SPM8軟件統(tǒng)計分析基因和疾病交互作用腦區(qū)、基因主效應(yīng)腦區(qū)和疾病主效應(yīng)腦區(qū),并用SPSS22.0分析臨床信息和量表在病例對照中的差異,及其與影像結(jié)果的相關(guān)性。[結(jié)果]ELP4rs964112的基因型分布在BECTS和正常兒童中有顯著差異,GG為高風(fēng)險型,T攜帶為低風(fēng)險型,BECTS(GG)較BECTS(Tcar)的中央顳區(qū)棘波(CTS)平均發(fā)放次數(shù)增加,HC(GG)較HC(Tcar)注意力、智商減弱,基因和BECTS交互作用灰質(zhì)結(jié)構(gòu)改變腦區(qū)為右側(cè)丘腦和左側(cè)Rolandic區(qū)�；蛑餍�(yīng)腦區(qū)為雙側(cè)丘腦和雙側(cè)Rolandic區(qū),疾病的主效應(yīng)腦區(qū)為雙側(cè)丘腦和右側(cè)Rolandic區(qū)。[結(jié)論]ELP4rs964112是BECTS的潛在遺傳風(fēng)險因素,高風(fēng)險型BECTS的CTS發(fā)放顯著增加,ELP4rs964112的多態(tài)性影響丘腦-Rolandic區(qū)皮質(zhì)結(jié)構(gòu)發(fā)育,這可能是BECTS患兒癲癇易感性增加的結(jié)構(gòu)基礎(chǔ)。第二部分基于ELP4rs964112基因多態(tài)性對BECTS的腦功能連接和腦網(wǎng)絡(luò)拓撲學(xué)性質(zhì)的研究[目的]基于ELP4rs964112不同基因型的灰質(zhì)結(jié)構(gòu)差異,進一步分析其腦功能連接(FC)的異常和腦網(wǎng)絡(luò)拓撲學(xué)的改變,評價ELP4rs964112對BECTS腦網(wǎng)絡(luò)改變的潛在影響和機制。[材料和方法]本研究納入68例BECTS和89例正常兒童志愿者,采集BOLD和3DT1像。預(yù)處理后的數(shù)據(jù)以第一部分VBM的基因和疾病交互作用的腦區(qū)為感興趣區(qū)(ROI),用rest軟件行ROI與全腦的功能連接分析,并比較各組差異,同時用GRETNA軟件分析各組被試全腦網(wǎng)絡(luò)的全局參數(shù)和局域參數(shù)。[結(jié)果]與BECTS(Tcar)相比,BECTS(GG)的基因和疾病交互作用的灰質(zhì)結(jié)構(gòu)改變腦區(qū)丘腦與雙側(cè)Rolandic區(qū)、殼核/尾狀核的FC減弱,Rolandic區(qū)與雙側(cè)殼核/尾狀核的FC增強;與HC(Tcar)相比,HC(GG)的丘腦與雙側(cè)Rolandic區(qū)、殼核/尾狀核的FC增強。與BECTS(Tcar)相比,BECTS(GG)的左側(cè)丘腦的節(jié)點中介中間性、雙側(cè)丘腦的加權(quán)的連接強度的加權(quán)連接強度和節(jié)點效率減低。與HC(GG)組相比,HC(Tcar)組的左側(cè)中央溝蓋節(jié)點中介中間性減低。各組被試均具有小世界屬性,腦網(wǎng)絡(luò)全局參數(shù)無統(tǒng)計學(xué)差異。[結(jié)論]ELP4rs964112的多態(tài)性與以Rolandic區(qū)、丘腦和紋狀體之間功能連接異常為主的腦功能網(wǎng)絡(luò)改變有關(guān)。不同基因型被試組仍具有小世界屬性,部分節(jié)點局部參數(shù)顯示高風(fēng)險基因型組較低風(fēng)險組丘腦和Rolandic區(qū)處理信息的能力和效率減弱。
[Abstract]:The first part of the gray matter structure of ELP4 gene polymorphism on the impact of BECTS morphological research [Objective] using voxel based morphometry (VBM) to observe the differences of different genotypes of ELP4 rs964112 children and normal children's gray matter structure, through the assessment of gray matter structure, EEG, audiovisual integration continuous test (IVA+CPT) and raven standard reasoning test the difference on risk genotypes with centrotemporal spikes in children with benign epilepsy (BECTS) mechanism and its effect on cognitive function. Materials and methods: This study included 68 cases of BECTS and 89 cases of normal children volunteers, the use of MRI to acquire high resolution T1 (3DT1), and the like on the part of the BECTS acquisition 1000s synchronous EEG-fMRI data. The 3DT1 image registration using VBM8 software, cutting and pretreatment after gray images of each subject, at the same time and read EEG data. On the part of the trial IVA+CPT and raven standard reasoning test. The SPM8 software was used for statistical analysis of gene and disease interactions between brain regions, the main genetic effect of brain areas and the main effect of brain diseases, and SPSS22.0 analysis of clinical information and scale differences in case-control, genotype and its correlation with imaging results. Results the distribution of]ELP4rs964112 has significant difference in BECTS and normal children, GG is high risk, low risk for carrying T, BECTS (GG) BECTS (Tcar) central temporal spikes (CTS) the average firing frequency increasing, HC (GG) HC (Tcar) concentration, the intelligence quotient decreased, and BECTS gene interaction in gray matter change the structure of brain regions for the right thalamus and left Rolandic area. The main genetic effect brain regions of bilateral thalamus and bilateral Rolandic, brain diseases as the main effect of the bilateral thalamus and right Rolandic area. Conclusion]ELP4rs964112 is a potential genetic risk factors for BECTS, high risk BECTS CTS release increased significantly, the polymorphisms affect cortical structure of thalamic -Rolandic Development Zone ELP4rs964112, which may be the structural basis of increased susceptibility to BECTS in children with epilepsy. The second part of ELP4rs964112 gene polymorphism on brain function of the connection of BECTS and network topological properties of brain [Objective] Based on the differences of gray matter structure of different ELP4rs964112 genotype based on the further analysis of the brain functional connectivity (FC) and the abnormal brain network topology changes, ELP4rs964112 evaluation of potential effects and mechanisms of BECTS brain network changes. Materials and methods: This study included 68 cases of BECTS and 89 normal children volunteers, BOLD and 3DT1. As a collection of data after pretreatment with brain in the first part of VBM gene and disease interactions for region of interest (ROI), using rest software for ROI is connected with the whole brain function analysis, and compare the differences between each group, at the same time by GRE TNA software to analyze the subjects of whole brain network global parameters and local parameters. Compared with BECTS (Tcar), BECTS (GG) changes in gray matter structure and disease gene interaction of brain regions in the thalamus and bilateral caudate putamen / Rolandic area, FC area and Rolandic decreased, bilateral caudate / putamen enhanced FC and HC; (Tcar), HC (GG) of the thalamus and bilateral caudate putamen / Rolandic, enhanced FC and BECTS. (Tcar) compared to BECTS (GG) of the intermediate node intermediary left thalamus, weighted connection strength weighted bilateral thalamus connection strength and node efficiency reduced. And HC (GG) group, HC (Tcar) group of the central sulcus of the left side cover decreased. Middle node intermediary subjects had small world properties, and polymorphism in Rolandic region showed no significant difference. Conclusion]ELP4rs964112 global brain network parameters, abnormal function between the thalamus and striatum connections The changes of brain function network were mainly related. Different genotype subjects still had small world attributes. Partial node local parameters showed that the high-risk group and low risk group had less information and ability to deal with information in hypothalamic and Rolandic regions.

【學(xué)位授予單位】：南方醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R742.1;R445.2

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