目的探讨伴白质脑病和系统性损害的视网膜血管病(retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,RVCL-S)家系的临床、组织病理及分子遗传学特点。方法回顾性分析RVCL-S家系的临床资料并绘制家系...目的探讨伴白质脑病和系统性损害的视网膜血管病(retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,RVCL-S)家系的临床、组织病理及分子遗传学特点。方法回顾性分析RVCL-S家系的临床资料并绘制家系图,总结其临床表现、影像学、组织病理及分子遗传学特点。结果家系1:男性发病3例,年龄分别为10岁、29岁和40岁。家系2:男性发病1例,年龄为32岁。2家系患者均表现为视网膜血管病、白质脑病及多系统损害,后者包括肝、肾、消化道受累等;2家系无症状携带者4例。家系1-Ⅱ2颅脑CT示左侧侧脑室后角旁片状低密度,伴颅内多发高密度钙化,颅脑MRI平扫示侧脑室旁病变;家系1-Ⅱ5颅脑MRI平扫及增强示额颞叶皮层病变伴周围水肿及占位效应,环形强化明显。家系2-Ⅱ1颅脑MRI平扫及增强先后出现右侧及左侧额叶病变,伴周围水肿及强化,占位效应明显。家系1-Ⅱ5病变脑组织手术病理示内皮细胞增生性病变;家系2-Ⅱ1脑病变2次手术病理均符合“脑梗死”样表现;小肠壁内小血管示内皮细胞增生性病变。家系1-Ⅱ2存在TREX1 D272Rfs杂合突变,其2女1子均为无症状突变携带者。家系2-Ⅱ1基因存在TREX1 S246Ifs杂合突变,其父亲、母亲均未发现该突变,其子为无症状突变携带者。结论RVCL-S临床主要表现为视网膜血管病、神经系统受累及多系统损害。影像学见颅内病变可呈占位性,伴周围水肿及强化;病理特点为小血管内皮细胞增生及管腔狭窄。基因结果证实存在TREX1基因突变。展开更多
This article aims to provide a brief overview of the relevance of new findings about the Fibonacci Life Chart Method (FLCM) for understanding synchronicity. The FLCM is reviewed first, including an exposition of the g...This article aims to provide a brief overview of the relevance of new findings about the Fibonacci Life Chart Method (FLCM) for understanding synchronicity. The FLCM is reviewed first, including an exposition of the golden section model, and elaboration of a new harmonic model. The two models are then compared to illuminate several strengths and weaknesses in connection with the following four major criteria regarding synchronicity: explanatory adequacy;predictability of future synchronicities;simplicity of the model;and generalizability to other branches of knowledge. The review indicates that both models appear capable of simulating nonlinear and fractal dynamics. Hybrid approaches that combine both models are feasible and necessary for projects that aim to experimentally address synchronicity.展开更多
文摘目的分析重症颅脑损伤(severe traumatic brain injury,sTBI)患者术后硬膜下积液(subdural effusion,SE)的危险因素,并创建预测患者术后SE发生的列线图预测模型。方法回顾性分析2020年3月~2023年12月丹阳市人民医院收治的223例sTBI患者的临床资料,根据术后有无发生SE分为SE组和非SE组。对SE组和非SE组收集的24项资料予以比较,利用多因素Logistic回归分析筛查术后SE发生的危险因素。将确定的预测变量引入R软件构建列线图模型,并利用受试者工作特征(receiver operator characteristic,ROC)曲线下面积(area under the curve,AUC)、校正曲线检验模型的预测效果。结果sTBI患者术后SE发生率为27.80%(62/223);SE组和非SE组入院格拉斯哥昏迷量表(Glasgow coma scale,GCS)评分、血肿量、基底池受压比例、蛛网膜下腔出血(subarachnoid hemorrhage,SAH)比例、中线移位距离、脱水剂应用时间≥7天比例、术后颅内感染比例比较,差异均有统计学意义(P<0.05);sTBI患者术后SE发生的危险因素主要有入院GCS评分为3~5分、血肿量>40ml、基底池受压、SAH、中线移位距离≥10mm、脱水剂应用时间≥7天。内部验证显示,AUC为0.828(95%CI:0.784~0.896),拟合优度Hosmer-Lemeshow检验结果为χ^(2)=6.860,P=0.552,曲线拟合度较佳。结论根据入院GCS评分、血肿量、基底池是否受压、是否发生SAH、中线移位距离及脱水剂应用时间构建的列线图对sTBI患者术后SE发生的预测效果良好。
文摘目的探讨伴白质脑病和系统性损害的视网膜血管病(retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,RVCL-S)家系的临床、组织病理及分子遗传学特点。方法回顾性分析RVCL-S家系的临床资料并绘制家系图,总结其临床表现、影像学、组织病理及分子遗传学特点。结果家系1:男性发病3例,年龄分别为10岁、29岁和40岁。家系2:男性发病1例,年龄为32岁。2家系患者均表现为视网膜血管病、白质脑病及多系统损害,后者包括肝、肾、消化道受累等;2家系无症状携带者4例。家系1-Ⅱ2颅脑CT示左侧侧脑室后角旁片状低密度,伴颅内多发高密度钙化,颅脑MRI平扫示侧脑室旁病变;家系1-Ⅱ5颅脑MRI平扫及增强示额颞叶皮层病变伴周围水肿及占位效应,环形强化明显。家系2-Ⅱ1颅脑MRI平扫及增强先后出现右侧及左侧额叶病变,伴周围水肿及强化,占位效应明显。家系1-Ⅱ5病变脑组织手术病理示内皮细胞增生性病变;家系2-Ⅱ1脑病变2次手术病理均符合“脑梗死”样表现;小肠壁内小血管示内皮细胞增生性病变。家系1-Ⅱ2存在TREX1 D272Rfs杂合突变,其2女1子均为无症状突变携带者。家系2-Ⅱ1基因存在TREX1 S246Ifs杂合突变,其父亲、母亲均未发现该突变,其子为无症状突变携带者。结论RVCL-S临床主要表现为视网膜血管病、神经系统受累及多系统损害。影像学见颅内病变可呈占位性,伴周围水肿及强化;病理特点为小血管内皮细胞增生及管腔狭窄。基因结果证实存在TREX1基因突变。
文摘This article aims to provide a brief overview of the relevance of new findings about the Fibonacci Life Chart Method (FLCM) for understanding synchronicity. The FLCM is reviewed first, including an exposition of the golden section model, and elaboration of a new harmonic model. The two models are then compared to illuminate several strengths and weaknesses in connection with the following four major criteria regarding synchronicity: explanatory adequacy;predictability of future synchronicities;simplicity of the model;and generalizability to other branches of knowledge. The review indicates that both models appear capable of simulating nonlinear and fractal dynamics. Hybrid approaches that combine both models are feasible and necessary for projects that aim to experimentally address synchronicity.
