本文报道了一例老年女性院内卒中患者的临床诊疗过程。该患者于肛肠外科手术后2 d突发急性缺血性卒中,经影像学检查确诊为右侧颈内动脉起始部重度狭窄。在接受了1个月的卒中二级预防药物治疗后,择期行血管内治疗。术前该患者进行了快速...本文报道了一例老年女性院内卒中患者的临床诊疗过程。该患者于肛肠外科手术后2 d突发急性缺血性卒中,经影像学检查确诊为右侧颈内动脉起始部重度狭窄。在接受了1个月的卒中二级预防药物治疗后,择期行血管内治疗。术前该患者进行了快速细胞色素P450酶家族2亚家族C成员19(cytochrome P450 family 2 subfamily C member 19,CYP2C19)基因检测,结果为中间代谢型,提示应用氯吡格雷的效果可能不佳。基于这一检测结果调整抗血小板治疗方案,选择替格瑞洛联合阿司匹林作为替代治疗。治疗后,患者病情稳定,预后较好。本病例报道提示,在非轻型卒中患者中,快速CYP2C19基因检测可帮助选择抗血小板治疗策略,改善患者预后。展开更多
Lysosome-associated membrane protein-2 deficiency （LAMP2 deficiency）, or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 f...Lysosome-associated membrane protein-2 deficiency （LAMP2 deficiency）, or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 families with mutations of the Lamp-2 gene have been reported. We describe a family from Sardinia with eight affected patients （4 females and 4 males） and a novel mutation in exon 2 of the Lamp-2 gene （c.102103delAG）. Females developed isolated cardiomyopathy in adulthood, whereas males presented with cardiomyopathy, myopathy, and mental retardation before the age of 20 years. Cardiomyopathy was lethal in three females in their 40s and in three males before the age 20 years. One patient was su ccessfully treated by heart transplantation with more than 5-year follow-up. T his study demonstrates that Danon disease is a frequently fatal condition that i s potentially treatable with heart transplantation.展开更多
目的基于RAS同源基因家族成员相关激酶(ROCK)/烟酰胺腺嘌呤二核苷酸磷酸氧化酶(NOX)4信号通路探究刺芒柄花素对2型糖尿病大鼠内质网应激损伤及肾功能的影响。方法SPF级健康8周龄雄性C57BL/6大鼠60只,随机分为5组,各12只,健康组、模型组...目的基于RAS同源基因家族成员相关激酶(ROCK)/烟酰胺腺嘌呤二核苷酸磷酸氧化酶(NOX)4信号通路探究刺芒柄花素对2型糖尿病大鼠内质网应激损伤及肾功能的影响。方法SPF级健康8周龄雄性C57BL/6大鼠60只,随机分为5组,各12只,健康组、模型组、刺芒柄花素低、中、高组,除健康组外均建立2型糖尿病大鼠模型,刺芒柄花素低组、刺芒柄花素中组、刺芒柄花素高组分别给予20、40、100 mg/kg刺芒柄花素灌胃,其余组别灌胃等体积生理盐水。采用自动生化分析仪测定肾功能指标。苏木素-伊红(HE)染色与Masson染色观察大鼠肾组织病形态。TUNEL检测肾小管上皮细胞凋亡。免疫组化检测RAS同源基因家族成员(Rho)A、NOX4、ROCK阳性表达。Western印迹检测内质网应激相关蛋白表达。结果HE染色结果显示:健康组肾脏组织结构正常;模型组肾小球有一定程度萎缩,组织结构排列不均匀,并且有肿胀、脱落现象、还存在空泡样变性、鲍曼囊腔扩,而经过刺芒柄花素干预后,上述情况有所改善,且呈现出明显的剂量依赖性。Masson染色结果显示:健康组肾组织正常;模型组肾小球、肾小管基底膜增厚,产生空泡样病变,肾间质胶原纤维沉积明显;在经过刺芒柄花素干预后上述状况明显改善,且呈现出明显的剂量依赖性。健康组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著低于模型组(P<0.05)。模型组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著高于刺芒柄花素低组(P<0.05)。刺芒柄花素低组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著高于刺芒柄花素中组(P<0.05)。刺芒柄花素中组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著高于刺芒柄花素高组(P<0.05)。结论刺芒柄花素可能是通过调控Rho/ROCK/NOX4信号通路抑制了2型糖尿病大鼠内质网应激,改善肾功能,对肾脏起保护作用。展开更多
文摘本文报道了一例老年女性院内卒中患者的临床诊疗过程。该患者于肛肠外科手术后2 d突发急性缺血性卒中,经影像学检查确诊为右侧颈内动脉起始部重度狭窄。在接受了1个月的卒中二级预防药物治疗后,择期行血管内治疗。术前该患者进行了快速细胞色素P450酶家族2亚家族C成员19(cytochrome P450 family 2 subfamily C member 19,CYP2C19)基因检测,结果为中间代谢型,提示应用氯吡格雷的效果可能不佳。基于这一检测结果调整抗血小板治疗方案,选择替格瑞洛联合阿司匹林作为替代治疗。治疗后,患者病情稳定,预后较好。本病例报道提示,在非轻型卒中患者中,快速CYP2C19基因检测可帮助选择抗血小板治疗策略,改善患者预后。
文摘Lysosome-associated membrane protein-2 deficiency （LAMP2 deficiency）, or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 families with mutations of the Lamp-2 gene have been reported. We describe a family from Sardinia with eight affected patients （4 females and 4 males） and a novel mutation in exon 2 of the Lamp-2 gene （c.102103delAG）. Females developed isolated cardiomyopathy in adulthood, whereas males presented with cardiomyopathy, myopathy, and mental retardation before the age of 20 years. Cardiomyopathy was lethal in three females in their 40s and in three males before the age 20 years. One patient was su ccessfully treated by heart transplantation with more than 5-year follow-up. T his study demonstrates that Danon disease is a frequently fatal condition that i s potentially treatable with heart transplantation.
文摘目的基于RAS同源基因家族成员相关激酶(ROCK)/烟酰胺腺嘌呤二核苷酸磷酸氧化酶(NOX)4信号通路探究刺芒柄花素对2型糖尿病大鼠内质网应激损伤及肾功能的影响。方法SPF级健康8周龄雄性C57BL/6大鼠60只,随机分为5组,各12只,健康组、模型组、刺芒柄花素低、中、高组,除健康组外均建立2型糖尿病大鼠模型,刺芒柄花素低组、刺芒柄花素中组、刺芒柄花素高组分别给予20、40、100 mg/kg刺芒柄花素灌胃,其余组别灌胃等体积生理盐水。采用自动生化分析仪测定肾功能指标。苏木素-伊红(HE)染色与Masson染色观察大鼠肾组织病形态。TUNEL检测肾小管上皮细胞凋亡。免疫组化检测RAS同源基因家族成员(Rho)A、NOX4、ROCK阳性表达。Western印迹检测内质网应激相关蛋白表达。结果HE染色结果显示:健康组肾脏组织结构正常;模型组肾小球有一定程度萎缩,组织结构排列不均匀,并且有肿胀、脱落现象、还存在空泡样变性、鲍曼囊腔扩,而经过刺芒柄花素干预后,上述情况有所改善,且呈现出明显的剂量依赖性。Masson染色结果显示:健康组肾组织正常;模型组肾小球、肾小管基底膜增厚,产生空泡样病变,肾间质胶原纤维沉积明显;在经过刺芒柄花素干预后上述状况明显改善,且呈现出明显的剂量依赖性。健康组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著低于模型组(P<0.05)。模型组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著高于刺芒柄花素低组(P<0.05)。刺芒柄花素低组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著高于刺芒柄花素中组(P<0.05)。刺芒柄花素中组24 h MAU、SCr、BUN、细胞凋亡率、RhoA、NOX4、ROCL、eIF2α、GRP78水平显著高于刺芒柄花素高组(P<0.05)。结论刺芒柄花素可能是通过调控Rho/ROCK/NOX4信号通路抑制了2型糖尿病大鼠内质网应激,改善肾功能,对肾脏起保护作用。
