目的:探讨HtrA1(high temperature requirement A1)在子痫前期孕妇血清、胎盘组织中的表达及意义。方法:HtrA1属分泌型蛋白,可采用酶联免疫吸附法(ELISA)测定同期住院孕妇的空腹血清HtrA1浓度,其中正常晚期妊娠30例、轻度子痫前期25例...目的:探讨HtrA1(high temperature requirement A1)在子痫前期孕妇血清、胎盘组织中的表达及意义。方法:HtrA1属分泌型蛋白,可采用酶联免疫吸附法(ELISA)测定同期住院孕妇的空腹血清HtrA1浓度,其中正常晚期妊娠30例、轻度子痫前期25例、重度子痫前期20例;同时应用免疫组化SABC法检测胎盘组织中HtrA1的表达。结果:正常晚期妊娠、轻度子痫前期及重度子痫前期孕妇血清HtrA1浓度分别为(160.63±32.52)pg/ml、(210.82±32.52)pg/ml及(233.68±38.61)pg/ml,组间差异显著(P<0.05);正常晚期妊娠、轻度子痫前期及重度子痫前期孕妇胎盘组织中HtrA的平均灰度值分别为156.03±5.07、149.89±2.69及140.05±4.96,组间差异显著(P<0.05)。结论:随着病情加重,孕妇血清及胎盘组织中HtrA1的表达显著增高。HtrA1与子痫前期的发生、发展有关。展开更多
遗传性脑小血管病(cerebral small vessel disease,CSVD)根据遗传形式可分为三类:显性型、X连锁型(Fabry病)和隐性型[1-5].伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcort...遗传性脑小血管病(cerebral small vessel disease,CSVD)根据遗传形式可分为三类:显性型、X连锁型(Fabry病)和隐性型[1-5].伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CARASIL)是由HTRA1的双等位基因纯合突变引起的,临床特征是青年期(20~45岁)发病,神经系统特点包括缺血性卒中(腔隙性脑梗塞、脑白质病变、微出血、脑萎缩)、认知障碍、情绪改变,非神经系统特点包括腰痛或脊椎发育障碍和40岁前的脱发症[6-7].近年来,新发现的HTRA1基因杂合性突变可导致近5%的家族性CSVD,这些疾病呈现显性遗传模式,与CARASIL不同的是发病较晚、程度较轻且缺乏非神经系统特征[8-10].本文报告1例以反复发作轻型卒中为主要表现的患者,无传统脑血管病危险因素,既往发育正常,通过分析患者神经影像及遗传学特点,总结报告该基因的临床表型.展开更多
AIM：To determine whether gene polymorphisms of the major genetic risk loci for age-related macular degeneration（AMD）：ARMS2（rs10490923）,the complement factor H（CFH）（rs1410996） and HTRA1（rs11200638） influenc...AIM：To determine whether gene polymorphisms of the major genetic risk loci for age-related macular degeneration（AMD）：ARMS2（rs10490923）,the complement factor H（CFH）（rs1410996） and HTRA1（rs11200638） influence the response to a treatment regimen with ranibizumab for exudative AMD.METHODS：This study included 100 patients（100 eyes）with exudative AMD.Patients underwent a treatment with ranibizumab injections monthly during three months.Reinjections were made when the best corrected visual acuity（BCVA） decrease five letters（ETDRS） or central subfield retinal thickness gained 100 pm in optical coherence tomography image.Genotypes（rs10490923,rs1410996 and rs11200638） were analyzed using TaqMan probes or polymerase chain reaction-restricted fragment length polymorphisms analysis.RESULTS：There were no statistically significant differences in allelic distribution of CFH（rs1410996）,ARMS2（rs10490923） and HTRA1（rs11200638）polymorphisms regarding to response to ranibizumab treatment.CONCLUSION：Ranibizumab treatment response is not related to CFH（rs1410996）,ARMS2（rs10490923） and HTRA1（rs11200638） poymorphisms.展开更多
文摘目的:探讨HtrA1(high temperature requirement A1)在子痫前期孕妇血清、胎盘组织中的表达及意义。方法:HtrA1属分泌型蛋白,可采用酶联免疫吸附法(ELISA)测定同期住院孕妇的空腹血清HtrA1浓度,其中正常晚期妊娠30例、轻度子痫前期25例、重度子痫前期20例;同时应用免疫组化SABC法检测胎盘组织中HtrA1的表达。结果:正常晚期妊娠、轻度子痫前期及重度子痫前期孕妇血清HtrA1浓度分别为(160.63±32.52)pg/ml、(210.82±32.52)pg/ml及(233.68±38.61)pg/ml,组间差异显著(P<0.05);正常晚期妊娠、轻度子痫前期及重度子痫前期孕妇胎盘组织中HtrA的平均灰度值分别为156.03±5.07、149.89±2.69及140.05±4.96,组间差异显著(P<0.05)。结论:随着病情加重,孕妇血清及胎盘组织中HtrA1的表达显著增高。HtrA1与子痫前期的发生、发展有关。
文摘遗传性脑小血管病(cerebral small vessel disease,CSVD)根据遗传形式可分为三类:显性型、X连锁型(Fabry病)和隐性型[1-5].伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CARASIL)是由HTRA1的双等位基因纯合突变引起的,临床特征是青年期(20~45岁)发病,神经系统特点包括缺血性卒中(腔隙性脑梗塞、脑白质病变、微出血、脑萎缩)、认知障碍、情绪改变,非神经系统特点包括腰痛或脊椎发育障碍和40岁前的脱发症[6-7].近年来,新发现的HTRA1基因杂合性突变可导致近5%的家族性CSVD,这些疾病呈现显性遗传模式,与CARASIL不同的是发病较晚、程度较轻且缺乏非神经系统特征[8-10].本文报告1例以反复发作轻型卒中为主要表现的患者,无传统脑血管病危险因素,既往发育正常,通过分析患者神经影像及遗传学特点,总结报告该基因的临床表型.
基金Supported by a Grant from Gerencia Regional de Salud de Castillay Leon GRS 957/A/14
文摘AIM：To determine whether gene polymorphisms of the major genetic risk loci for age-related macular degeneration（AMD）：ARMS2（rs10490923）,the complement factor H（CFH）（rs1410996） and HTRA1（rs11200638） influence the response to a treatment regimen with ranibizumab for exudative AMD.METHODS：This study included 100 patients（100 eyes）with exudative AMD.Patients underwent a treatment with ranibizumab injections monthly during three months.Reinjections were made when the best corrected visual acuity（BCVA） decrease five letters（ETDRS） or central subfield retinal thickness gained 100 pm in optical coherence tomography image.Genotypes（rs10490923,rs1410996 and rs11200638） were analyzed using TaqMan probes or polymerase chain reaction-restricted fragment length polymorphisms analysis.RESULTS：There were no statistically significant differences in allelic distribution of CFH（rs1410996）,ARMS2（rs10490923） and HTRA1（rs11200638）polymorphisms regarding to response to ranibizumab treatment.CONCLUSION：Ranibizumab treatment response is not related to CFH（rs1410996）,ARMS2（rs10490923） and HTRA1（rs11200638） poymorphisms.
