We share with great sadness that our long-time friend and colleague,Prof.Dr.Bernhard Dietzschold,passed away surrounded by his family on May 2,2022,at the age of 81.With the passing of Bernhard Dietzschold,the worldwi...We share with great sadness that our long-time friend and colleague,Prof.Dr.Bernhard Dietzschold,passed away surrounded by his family on May 2,2022,at the age of 81.With the passing of Bernhard Dietzschold,the worldwide virology and infectious disease community is losing an eminent representative who has shaped the scientific landscape of its discipline for decades.展开更多
Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and ...Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.展开更多
目的对1例超声心动图提示为主动脉根部瘤及主动脉瓣关闭不全的患者进行基因检测,明确其可能的致病变异,为临床诊断和遗传咨询提供依据。方法应用二代测序技术对先证者进行全外显子组测序,重点分析主动脉瘤疾病及其他循环系统遗传病相关...目的对1例超声心动图提示为主动脉根部瘤及主动脉瓣关闭不全的患者进行基因检测,明确其可能的致病变异,为临床诊断和遗传咨询提供依据。方法应用二代测序技术对先证者进行全外显子组测序,重点分析主动脉瘤疾病及其他循环系统遗传病相关基因,应用Sanger测序对患者及家系成员的疑似致病位点进行检测。依据根据美国医学遗传学与基因组学学会(American College of Medical Geneticsand Genomics,ACMG)遗传变异分类标准与指南判定变异的致病性。结果二代测序结果显示患者的TGFBR1基因(NM_001130916.3)存在c.830T>C杂合变异,而家系正常成员均未检出该变异。SIFT.PolyPhen2和MutationTaster软件分析预测该变异为有害变异,可能导致编码蛋白结构和功能破坏。依据ACMG指南,该变异为可能致病(PM1+PM2+PM6+PP3+PP4)。结论TGFBR1基因c.830 T>C变异可能是该患者致病的原因,基因测序结果为临床诊断和遗传咨询提供了理论依据。展开更多
随着信息技术的发展,任何一个独立单位都有可能成为一个异构的数据源。为实现企业异构数据库间信息的共享和集成,对数据集成的原理以及主要技术进行了研究,重点分析了 XML 与数据库之间的映射、XML 文档存储模式、将 XML 查询转化为 SQL...随着信息技术的发展,任何一个独立单位都有可能成为一个异构的数据源。为实现企业异构数据库间信息的共享和集成,对数据集成的原理以及主要技术进行了研究,重点分析了 XML 与数据库之间的映射、XML 文档存储模式、将 XML 查询转化为 SQL 的查询转换问题以及如何将关系数据发布为 XML 文档。该方案简单易行,保证了各系统仍然按照原来的方式运行,只是在需要进行信息交换时通过转换接口把本地数据库数据转换成 XML 文档即可。展开更多
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular m...The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.展开更多
文摘We share with great sadness that our long-time friend and colleague,Prof.Dr.Bernhard Dietzschold,passed away surrounded by his family on May 2,2022,at the age of 81.With the passing of Bernhard Dietzschold,the worldwide virology and infectious disease community is losing an eminent representative who has shaped the scientific landscape of its discipline for decades.
文摘Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.
文摘目的对1例超声心动图提示为主动脉根部瘤及主动脉瓣关闭不全的患者进行基因检测,明确其可能的致病变异,为临床诊断和遗传咨询提供依据。方法应用二代测序技术对先证者进行全外显子组测序,重点分析主动脉瘤疾病及其他循环系统遗传病相关基因,应用Sanger测序对患者及家系成员的疑似致病位点进行检测。依据根据美国医学遗传学与基因组学学会(American College of Medical Geneticsand Genomics,ACMG)遗传变异分类标准与指南判定变异的致病性。结果二代测序结果显示患者的TGFBR1基因(NM_001130916.3)存在c.830T>C杂合变异,而家系正常成员均未检出该变异。SIFT.PolyPhen2和MutationTaster软件分析预测该变异为有害变异,可能导致编码蛋白结构和功能破坏。依据ACMG指南,该变异为可能致病(PM1+PM2+PM6+PP3+PP4)。结论TGFBR1基因c.830 T>C变异可能是该患者致病的原因,基因测序结果为临床诊断和遗传咨询提供了理论依据。
文摘随着信息技术的发展,任何一个独立单位都有可能成为一个异构的数据源。为实现企业异构数据库间信息的共享和集成,对数据集成的原理以及主要技术进行了研究,重点分析了 XML 与数据库之间的映射、XML 文档存储模式、将 XML 查询转化为 SQL 的查询转换问题以及如何将关系数据发布为 XML 文档。该方案简单易行,保证了各系统仍然按照原来的方式运行,只是在需要进行信息交换时通过转换接口把本地数据库数据转换成 XML 文档即可。
文摘The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.
