通过全基因组关联分析(genome-wide association study,GWAS)探索中国汉族人群疼痛诱发脑岛神经响应个体差异背后的遗传影响因素.研究共纳入333名经质控合格且同时采集了基因和脑影像数据的中国汉族健康被试,基因型数据经质控插补后包含...
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通过全基因组关联分析(genome-wide association study,GWAS)探索中国汉族人群疼痛诱发脑岛神经响应个体差异背后的遗传影响因素.研究共纳入333名经质控合格且同时采集了基因和脑影像数据的中国汉族健康被试,基因型数据经质控插补后包含5270947个单核苷酸多态性(single nucleotide polymorphism,SNP)位点,脑影像数据为痛觉刺激任务态功能磁共振成像(functional magnetic resonance imaging,fMRI)数据.首先基于f MRI数据利用一般线性模型(general linear model,GLM)获得痛觉刺激条件下每位被试左侧和右侧脑岛区域各自的平均激活值以及双侧脑岛的平均激活值,并将其作为GWAS表型数据分别对5270947个SNP逐一计算脑岛激活与SNP之间的关联.结果显示,在P<5×10^(-6)阈值下,10个独立SNP位点与左侧脑岛的激活水平存在显著关联,7个独立SNP位点与右侧脑岛的激活水平存在显著关联,12个独立SNP位点与双侧脑岛的平均激活水平存在显著关联.所有显著位点可注释到9个基因上,其中BACE1基因已被报道与疼痛相关,其他基因与脑影像表型或常见神经精神疾病相关.这些发现为深入理解疼痛诱发脑岛神经响应个体差异背后的遗传机制提供了有力证据.
Eosinophilic granulomatosis with polyangiitis (EGPA), a rare autoimmune disease affecting multiple systems, is prone to misdiagnosis and missed diagnosis due to its diverse and complex clinical manifestations, which a...
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Eosinophilic granulomatosis with polyangiitis (EGPA), a rare autoimmune disease affecting multiple systems, is prone to misdiagnosis and missed diagnosis due to its diverse and complex clinical manifestations, which affect the prognosis. Therefore, early diagnosis of the disease, development of standardized treatment protocols, management of complications, and multidisciplinary team collaboration are crucial. The writing group of the Multidisciplinary Expert Consensus on the Diagnosis and Treatment of Eosinophilic Granulomatosis with Polyangiitis, has comprehensively updated and revised the 2018 edition of the “Multidisciplinary Expert Consensus on the Diagnosis and Treatment of Eosinophilic Granulomatosis with Polyangiitis” based on the latest research findings. The revision adds etiology and pathogenesis, updates diagnosis and assessment, treatment, and prognosis, and compiles 13 recommendations. This revision aims to improve the diagnostic and therapeutic capabilities of clinicians for EGPA, highlight the importance of multidisciplinary collaboration in EGPA management, provide the most up-to-date guidance for clinical practice, and consequently improve treatment outcomes and patients′ quality of life. The recommendations are listed below. Recommendation 1: Patients with asthma, peripheral blood eosinophilia, and damage to other systems should be suspected of having EGPA (1, B). Recommendation 2: Patients suspected of having EGPA should undergo a full examination and assessment. ANCA testing should be performed in all such patients. If feasible, biopsy of the affected tissue is also recommended (1, B). Recommendation 3: The diagnosis of EGPA should be based on highly suggestive indicative clinical features, laboratory tests, imaging, and objective evidence of vasculitis. Differential diagnosis and multidisciplinary assessment are essential. The 1990 ACR or 2022 ACR/EULAR classification criteria for EGPA are recommended for diagnosis (1, B). Recommendation 4: All
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