目的:分析伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy,CADASIL)患者的临床和影像学特征。方法:收集2013年1月至2018年1...目的:分析伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy,CADASIL)患者的临床和影像学特征。方法:收集2013年1月至2018年12月在中南大学湘雅医院通过基因确诊的CADASIL患者12例,回顾性分析其临床表现、危险因素、MRI影像学特征和Notch3基因突变。结果:12例患者年龄为(47.25±9.49)岁,临床表现以认知障碍(75%)和脑卒中事件(58.3%)最常见,2例表现为脑出血。合并偏头痛少见(25%)。MRI均存在累及脑室旁和深部白质的脑白质高信号(white matter hyperintensities,WMH)和腔隙及血管周围间隙(perivascular spaces,PVS)扩大。WMH主要累及额顶叶(100%)、颞叶(83.3%)、外囊(66.7%)、枕叶(41.6%)、胼胝体(41.6%)和颞极(33.3%);腔隙主要累及额叶(91.6%)、顶叶(83.3%)、颞叶(66.7%)、基底节区(66.7%)、脑干(41.6%)、枕叶(33.3%)、小脑(8.3%);扩大的PVS均位于基底节区(100%),部分累及皮层下(45.4%)。脑出血患者WMH程度较轻(Fezakas评分为1～2分),且外囊无受累。16.7%患者存在颅内大动脉狭窄。12例患者中共检测到8种不同的Notch3基因突变,位于6号外显子的c.1013G>C p.(Cys338Ser)为CADASIL新的致病突变。结论:本组以脑出血为表现的患者脑白质病变较轻,基因型亦有特异性,其临床表型可能与影像学、基因表型相关。展开更多
We report on silent brain infarction (SBI) and leuko- araiosis (LA) of 23 patients with clinically diagnosed “first-ever” acute ischemic lacunar stroke. The lacunar syndromes were pure motor hemiparesis (10), pure s...We report on silent brain infarction (SBI) and leuko- araiosis (LA) of 23 patients with clinically diagnosed “first-ever” acute ischemic lacunar stroke. The lacunar syndromes were pure motor hemiparesis (10), pure sensory syndrome (2), ataxic hemiparesis (3), dysarthria clumsy hand syndrome (3), and sensory- motor deficit (5). Nineteen out of the 23 patients presented with completed strokes on arrival to the hospital, and 4 (17%) developed evolving-stroke within 24 hours of stroke onset. A lacune corresponded to the acute stroke could be found in all patients on brain magnetic resonance imaging (MRI), and in 18 (78%) on brain computed tomography (CT). MRI showed additional subclinical or asymptomatic “silent brain infarctions or lacunes” (SBI) in 19 (83%) of 23 patients, and leuko-araiosis (LA) of moderate to severe degree (> grade 2) was present in 61% of patients although dementia was absent. Hypertension is the risk factor in 78% of cases followed by diabetes mellitus, smoking, and elevated plasma cholesterol level. Independence of the types of lacunar syndromes, patients with hypertension and diabetes mellitus are associated with high grade LA. None with normal blood pressure and plasma glucose had grade 3 or grade 4 LA (p < 0.05). In conclusion, evolving-stroke occurs in one- fifth of patients with “first-ever” lacunar infarct within the first 24 hours of stroke onset. SBI was found in 83% of cases. Hypertension and diabetes mellitus are associated with additional SBI and high grade LA. The severity of leuko-araiosis per se dictates the cerebrovascular risks.展开更多
BACKGROUND Lacunes are the manifestations of lacunar infarction which can lead many patients to the clinical outcome of disability or dementia.However,the relationship between lacune burden,cognitive function and bloo...BACKGROUND Lacunes are the manifestations of lacunar infarction which can lead many patients to the clinical outcome of disability or dementia.However,the relationship between lacune burden,cognitive function and blood glucose fluctuation in patients with type 2 diabetes mellitus(T2DM)complicated with lacunes is not very clear.AIM To explore the correlation between glucose variability,lacune burden and cognitive function in patients with lacunes complicated with T2DM.METHODS The clinical and imaging data of 144 patients with lacunes combined with T2DM were reviewed retrospectively.72 h continuous glucose monitoring was performed.The Montreal Cognitive Assessment was used to assess cognitive function.The burden of lacunes was evaluated using magnetic resonance imaging performance.Multifactorial logistic regression analysis was used to study the affecting the lacune load and cognitive impairment in patients.To predict the value of patients’cognitive impairment with lacunes complicated with T2DM,a receiver operating characteristic(ROC)curve and a nomogram prediction model were constructed.RESULTS The standard deviation(SD)of the average blood glucose concentration,percentage coefficient of variation(%CV)and time of range(TIR)were significantly different between the low and the high load groups(P<0.05).The SD,%CV and TIR of the cognitive impairment group and non-cognitive impairment group were significantly different(P<0.05).SD(odds ratio(OR):3.558,95%confidence interval(CI):1.268-9.978,P=0.006),and%CV(OR:1.192,95%CI:1.081-1.315,P<0.05)were the risk factors for an increased infarct burden in lacunes patients complicated with T2DM.TIR(OR:0.874,95%CI:0.833-0.928,P<0.05)is a protective factor.In addition,an increased SD(OR:2.506,95%CI:1.008-6.23,P=0.003),%CV(OR:1.163,95%CI:1.065-1.270,P<0.05)were the risk factors for cognitive impairment in patients with lacunes complicated with T2DM,TIR(OR:0.957,95%CI:0.922-0.994,P<0.05)is a protective factor.A nomogram prediction model of the risk of cognitive impairment was establi展开更多
文摘目的:分析伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy,CADASIL)患者的临床和影像学特征。方法:收集2013年1月至2018年12月在中南大学湘雅医院通过基因确诊的CADASIL患者12例,回顾性分析其临床表现、危险因素、MRI影像学特征和Notch3基因突变。结果:12例患者年龄为(47.25±9.49)岁,临床表现以认知障碍(75%)和脑卒中事件(58.3%)最常见,2例表现为脑出血。合并偏头痛少见(25%)。MRI均存在累及脑室旁和深部白质的脑白质高信号(white matter hyperintensities,WMH)和腔隙及血管周围间隙(perivascular spaces,PVS)扩大。WMH主要累及额顶叶(100%)、颞叶(83.3%)、外囊(66.7%)、枕叶(41.6%)、胼胝体(41.6%)和颞极(33.3%);腔隙主要累及额叶(91.6%)、顶叶(83.3%)、颞叶(66.7%)、基底节区(66.7%)、脑干(41.6%)、枕叶(33.3%)、小脑(8.3%);扩大的PVS均位于基底节区(100%),部分累及皮层下(45.4%)。脑出血患者WMH程度较轻(Fezakas评分为1～2分),且外囊无受累。16.7%患者存在颅内大动脉狭窄。12例患者中共检测到8种不同的Notch3基因突变,位于6号外显子的c.1013G>C p.(Cys338Ser)为CADASIL新的致病突变。结论:本组以脑出血为表现的患者脑白质病变较轻,基因型亦有特异性,其临床表型可能与影像学、基因表型相关。
文摘We report on silent brain infarction (SBI) and leuko- araiosis (LA) of 23 patients with clinically diagnosed “first-ever” acute ischemic lacunar stroke. The lacunar syndromes were pure motor hemiparesis (10), pure sensory syndrome (2), ataxic hemiparesis (3), dysarthria clumsy hand syndrome (3), and sensory- motor deficit (5). Nineteen out of the 23 patients presented with completed strokes on arrival to the hospital, and 4 (17%) developed evolving-stroke within 24 hours of stroke onset. A lacune corresponded to the acute stroke could be found in all patients on brain magnetic resonance imaging (MRI), and in 18 (78%) on brain computed tomography (CT). MRI showed additional subclinical or asymptomatic “silent brain infarctions or lacunes” (SBI) in 19 (83%) of 23 patients, and leuko-araiosis (LA) of moderate to severe degree (> grade 2) was present in 61% of patients although dementia was absent. Hypertension is the risk factor in 78% of cases followed by diabetes mellitus, smoking, and elevated plasma cholesterol level. Independence of the types of lacunar syndromes, patients with hypertension and diabetes mellitus are associated with high grade LA. None with normal blood pressure and plasma glucose had grade 3 or grade 4 LA (p < 0.05). In conclusion, evolving-stroke occurs in one- fifth of patients with “first-ever” lacunar infarct within the first 24 hours of stroke onset. SBI was found in 83% of cases. Hypertension and diabetes mellitus are associated with additional SBI and high grade LA. The severity of leuko-araiosis per se dictates the cerebrovascular risks.
基金Supported by the Medical Technology and Science Research Project in Henan Province,ChinaNo.SBGJ202102177。
文摘BACKGROUND Lacunes are the manifestations of lacunar infarction which can lead many patients to the clinical outcome of disability or dementia.However,the relationship between lacune burden,cognitive function and blood glucose fluctuation in patients with type 2 diabetes mellitus(T2DM)complicated with lacunes is not very clear.AIM To explore the correlation between glucose variability,lacune burden and cognitive function in patients with lacunes complicated with T2DM.METHODS The clinical and imaging data of 144 patients with lacunes combined with T2DM were reviewed retrospectively.72 h continuous glucose monitoring was performed.The Montreal Cognitive Assessment was used to assess cognitive function.The burden of lacunes was evaluated using magnetic resonance imaging performance.Multifactorial logistic regression analysis was used to study the affecting the lacune load and cognitive impairment in patients.To predict the value of patients’cognitive impairment with lacunes complicated with T2DM,a receiver operating characteristic(ROC)curve and a nomogram prediction model were constructed.RESULTS The standard deviation(SD)of the average blood glucose concentration,percentage coefficient of variation(%CV)and time of range(TIR)were significantly different between the low and the high load groups(P<0.05).The SD,%CV and TIR of the cognitive impairment group and non-cognitive impairment group were significantly different(P<0.05).SD(odds ratio(OR):3.558,95%confidence interval(CI):1.268-9.978,P=0.006),and%CV(OR:1.192,95%CI:1.081-1.315,P<0.05)were the risk factors for an increased infarct burden in lacunes patients complicated with T2DM.TIR(OR:0.874,95%CI:0.833-0.928,P<0.05)is a protective factor.In addition,an increased SD(OR:2.506,95%CI:1.008-6.23,P=0.003),%CV(OR:1.163,95%CI:1.065-1.270,P<0.05)were the risk factors for cognitive impairment in patients with lacunes complicated with T2DM,TIR(OR:0.957,95%CI:0.922-0.994,P<0.05)is a protective factor.A nomogram prediction model of the risk of cognitive impairment was establi
