先天性糖基化障碍Id型(congenital disorder of glycosylation type Id,CDG-Id)是由于ALG3基因变异,导致编码的α-1,3-甘露糖基转移酶缺陷。本例孕妇32岁,孕7产1,其中第5次单胎妊娠时外院超声提示胎儿畸形,引产后至复旦大学附属妇产科...先天性糖基化障碍Id型(congenital disorder of glycosylation type Id,CDG-Id)是由于ALG3基因变异,导致编码的α-1,3-甘露糖基转移酶缺陷。本例孕妇32岁,孕7产1,其中第5次单胎妊娠时外院超声提示胎儿畸形,引产后至复旦大学附属妇产科医院行基因检测提示为ALG3基因变异[NM_005787:c.67C>T(p.Gln23*),杂合,父源;NM_005787:c.1188G>A(p.Trp396*),杂合,母源]。本次单胎妊娠21周,我院产前超声表现为胎儿多发畸形,以小下颌、小脑蚓部缺失、后颅窝囊性占位、四肢长骨均短小、脊柱侧弯和手关节僵硬为主要表现。孕妇遂至外院引产,引产后基因检测结果证实仍为ALG3基因变异。本文重点介绍CDG-Id型的产前超声表现及遗传学特征,以提高对本病的认识。展开更多
Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated a...Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated as an important woody ornamental plant in worldwide, especially Japan, China. However, owning to the morphological similarity, many cultivars are distinguished hardly in non-flowering season. Here, we evaluated the genetic diversity and genetic relationship of 40 flowering cherry cultivars, which are mainly cultivated in China. We selected 13 polymorphicprimers to amplify to allele fragments with fluorescent-labeled capillary electrophoresis technology. The population structure analysis results show that these cultivars could be divided into 4 subpopulations. At the population level, N<sub>a</sub> and N<sub>e</sub> were 6.062, 4.326, respectively. H<sub>o</sub> and H<sub>e</sub> were 0.458 and 0.670, respectively. The Shannon’s information index (I) was 1.417. The Pop3, which originated from P. serrulata, had the highest H<sub>o</sub>, H<sub>e</sub>, and I among the 4 subpopulations. AMOVA showed that only 4% of genetic variation came from populations, the 39% variation came from individuals and 57% (p < 0.05) came from intra-individuals. 5 polymorphic SSR primers were selected to construct molecular ID code system of these cultivars. This analysis on the genetic diversity and relationship of the 40 flowering cherry cultivars will help to insight into the genetic background, relationship of these flowering cherry cultivars and promote to identify similar cultivars.展开更多
Internet services and web-based applications play pivotal roles in various sensitive domains, encompassing e-commerce, e-learning, e-healthcare, and e-payment. However, safeguarding these services poses a significant ...Internet services and web-based applications play pivotal roles in various sensitive domains, encompassing e-commerce, e-learning, e-healthcare, and e-payment. However, safeguarding these services poses a significant challenge, as the need for robust security measures becomes increasingly imperative. This paper presented an innovative method based on differential analyses to detect abrupt changes in network traffic characteristics. The core concept revolves around identifying abrupt alterations in certain characteristics such as input/output volume, the number of TCP connections, or DNS queries—within the analyzed traffic. Initially, the traffic is segmented into distinct sequences of slices, followed by quantifying specific characteristics for each slice. Subsequently, the distance between successive values of these measured characteristics is computed and clustered to detect sudden changes. To accomplish its objectives, the approach combined several techniques, including propositional logic, distance metrics (e.g., Kullback-Leibler Divergence), and clustering algorithms (e.g., K-means). When applied to two distinct datasets, the proposed approach demonstrates exceptional performance, achieving detection rates of up to 100%.展开更多
文摘先天性糖基化障碍Id型(congenital disorder of glycosylation type Id,CDG-Id)是由于ALG3基因变异,导致编码的α-1,3-甘露糖基转移酶缺陷。本例孕妇32岁,孕7产1,其中第5次单胎妊娠时外院超声提示胎儿畸形,引产后至复旦大学附属妇产科医院行基因检测提示为ALG3基因变异[NM_005787:c.67C>T(p.Gln23*),杂合,父源;NM_005787:c.1188G>A(p.Trp396*),杂合,母源]。本次单胎妊娠21周,我院产前超声表现为胎儿多发畸形,以小下颌、小脑蚓部缺失、后颅窝囊性占位、四肢长骨均短小、脊柱侧弯和手关节僵硬为主要表现。孕妇遂至外院引产,引产后基因检测结果证实仍为ALG3基因变异。本文重点介绍CDG-Id型的产前超声表现及遗传学特征,以提高对本病的认识。
文摘Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated as an important woody ornamental plant in worldwide, especially Japan, China. However, owning to the morphological similarity, many cultivars are distinguished hardly in non-flowering season. Here, we evaluated the genetic diversity and genetic relationship of 40 flowering cherry cultivars, which are mainly cultivated in China. We selected 13 polymorphicprimers to amplify to allele fragments with fluorescent-labeled capillary electrophoresis technology. The population structure analysis results show that these cultivars could be divided into 4 subpopulations. At the population level, N<sub>a</sub> and N<sub>e</sub> were 6.062, 4.326, respectively. H<sub>o</sub> and H<sub>e</sub> were 0.458 and 0.670, respectively. The Shannon’s information index (I) was 1.417. The Pop3, which originated from P. serrulata, had the highest H<sub>o</sub>, H<sub>e</sub>, and I among the 4 subpopulations. AMOVA showed that only 4% of genetic variation came from populations, the 39% variation came from individuals and 57% (p < 0.05) came from intra-individuals. 5 polymorphic SSR primers were selected to construct molecular ID code system of these cultivars. This analysis on the genetic diversity and relationship of the 40 flowering cherry cultivars will help to insight into the genetic background, relationship of these flowering cherry cultivars and promote to identify similar cultivars.
文摘Internet services and web-based applications play pivotal roles in various sensitive domains, encompassing e-commerce, e-learning, e-healthcare, and e-payment. However, safeguarding these services poses a significant challenge, as the need for robust security measures becomes increasingly imperative. This paper presented an innovative method based on differential analyses to detect abrupt changes in network traffic characteristics. The core concept revolves around identifying abrupt alterations in certain characteristics such as input/output volume, the number of TCP connections, or DNS queries—within the analyzed traffic. Initially, the traffic is segmented into distinct sequences of slices, followed by quantifying specific characteristics for each slice. Subsequently, the distance between successive values of these measured characteristics is computed and clustered to detect sudden changes. To accomplish its objectives, the approach combined several techniques, including propositional logic, distance metrics (e.g., Kullback-Leibler Divergence), and clustering algorithms (e.g., K-means). When applied to two distinct datasets, the proposed approach demonstrates exceptional performance, achieving detection rates of up to 100%.