1.Multivariate analysis of coronary heart disease and cerebral infarction after long-term treatment of type 2 diabetes
Feixia JIANG ; Hongye SU ; Huamin TANG ; Xiaoling ZHU ; Xuangeng HUANG ; Jihua HUANG ; Wei ZHANG
Chongqing Medicine 2018;47(17):2266-2269
Objective To study the prevalence and related risk factors of type 2 diabetes with coronary heart disease(CHD) and cerebral infarction after long-term treatment.Methods Two hundred and eighty-five patients with type 2 diabetes who had a hospitalization interval for four to twelve years between the first and second hospital stays were included in group A.Among them,85 patients (about 4 to 7 years) with a hospitalization interval about 5 years (4 to 7 years) between the first and second hospital stays(group B).100 patients with a hospitalization interval about 10 years (8 to 12 years) between the first and second hospital stays(group C).Blood pressure,blood glucose,HbA1c,blood lipids,myocardial enzymology,electrocardiogram,coronary angiography,cranial CT or MRI were tecorded.The prevalence of CHD and cerebral infarction were compare,regression analysis was conducted between coronary heart disease,cerebral infarction and the risk factors.Results DBP,FBG,PBG2h,TC,LDL-C of the second hospitalization were significantly lower than those of the first hospitalization.The morbidity of CHD and cerebral infarction increased along with the extension of the course.The morbidity of cerebral infarction in CHD patients were significantly higher than those in non-CHD patients with the interval about 10 years.Logistic regression analysis proved that age was risk factor and HDL-C was protective factor of CHD,SBP,FBG were risk factors of cerebral infarction.Conclusion The morbidity of CHD and cerebral infarction increased along with the extension of the course and there were significantly relationship between CHD and cerebral infarction in T2DM patients after about 10 years treatment.
2.The phenotypic and genetic spectrum of colony-stimulating factor 1 receptor gene-related leukoencephalopathy in China
Jingying WU ; Zaiqiang ZHANG ; Qing LIU ; Jun XU ; Weihai XU ; Liyong WU ; Zhiying WU ; Kang WANG ; Jianjun WU ; Zhangyu ZOU ; Haishan JIANG ; Wei ZHANG ; Wei GE ; Yuhu ZHANG ; Tongxia ZHANG ; Lixia ZHANG ; Zhanhang WANG ; Li LING ; Chang ZHOU ; Yun LI ; Beisha TANG ; Jianguang TANG ; Ping ZHONG ; Liang SHANG ; Yimin SUN ; Guixian ZHAO ; Xiuhe ZHAO ; Hongfu LI ; Jiong HU ; Jieling JIANG ; Chao ZHANG ; Xinghua LUAN ; Yuwu ZHAO ; Wotu TIAN ; Feixia ZHAN ; Xiaohang QIAN ; Huidong TANG ; Yuyan TAN ; Chunkang CHANG ; Youshan ZHAO ; Li CAO
Chinese Journal of Neurology 2021;54(11):1109-1118
Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.