In L-topological spaces,by using the D.-closed set,the concept of remote neighborhood for a point is generalized,the layer closure of an L-subset is defined,and the layer convergence of a net is established.
SET(patient SE translocation,SET)基因,又名模板活化因子-1(template activating factor,TAF-1),因首次鉴定于伴有该基因染色体异位的未分化型白血病患者SE而命名。SET蛋白具有多种生物功能,可以通过影响组蛋白乙酰化、转录调节、核...SET(patient SE translocation,SET)基因,又名模板活化因子-1(template activating factor,TAF-1),因首次鉴定于伴有该基因染色体异位的未分化型白血病患者SE而命名。SET蛋白具有多种生物功能,可以通过影响组蛋白乙酰化、转录调节、核小体装配等,参与基因表达调控、翻译后修饰、细胞凋亡等多个生物过程,是重要的细胞因子。一些消化和血液系统肿瘤、生殖与神经系统的疾病伴有SET表达或亚细胞定位异常,提示SET与这些疾病的发生发展相关。SET基因转录剪切产生TAF-Iα和SET/TAF-Iβ2个亚型,而SET/TAF-Iβ可能发挥着SET蛋白的主要生物学作用。展开更多
Objective To evaluate the ability of showing the pancreatlc dlseases on varlous MRI sequences. Methods Eighty-four subJects included 5O normal individuals and 34 patlents(22 patients investlgated for pancreatic neopIa...Objective To evaluate the ability of showing the pancreatlc dlseases on varlous MRI sequences. Methods Eighty-four subJects included 5O normal individuals and 34 patlents(22 patients investlgated for pancreatic neopIasia and 12 pancreatitis) were presented. The MR protocol inc1uded conventional SE T1WI, FSE T2WI, Pre-and post-contrast T,-weighted fat-suppressed and GRE imaging. ResuIts The best diagnostic information was provided by Tl-weighted fatsuppressed imaging before and after gadolinium enhancement on 27 of 34 cases with abnorm8I pancreas, followed by immediately postcontrast GRE images. Precontrast GRE imaging better showed the features of acute pancreatitis. FSE T2WI obviously exhibited lsiet cell tumor and metastases of Iiver from pancreatic adenocarcinoma. Conclusion The standard MR protocol included T1-weigkted fat-suppressed image and dynamic GRE imaging.展开更多
BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a...BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.展开更多
文摘In L-topological spaces,by using the D.-closed set,the concept of remote neighborhood for a point is generalized,the layer closure of an L-subset is defined,and the layer convergence of a net is established.
文摘SET(patient SE translocation,SET)基因,又名模板活化因子-1(template activating factor,TAF-1),因首次鉴定于伴有该基因染色体异位的未分化型白血病患者SE而命名。SET蛋白具有多种生物功能,可以通过影响组蛋白乙酰化、转录调节、核小体装配等,参与基因表达调控、翻译后修饰、细胞凋亡等多个生物过程,是重要的细胞因子。一些消化和血液系统肿瘤、生殖与神经系统的疾病伴有SET表达或亚细胞定位异常,提示SET与这些疾病的发生发展相关。SET基因转录剪切产生TAF-Iα和SET/TAF-Iβ2个亚型,而SET/TAF-Iβ可能发挥着SET蛋白的主要生物学作用。
文摘Objective To evaluate the ability of showing the pancreatlc dlseases on varlous MRI sequences. Methods Eighty-four subJects included 5O normal individuals and 34 patlents(22 patients investlgated for pancreatic neopIasia and 12 pancreatitis) were presented. The MR protocol inc1uded conventional SE T1WI, FSE T2WI, Pre-and post-contrast T,-weighted fat-suppressed and GRE imaging. ResuIts The best diagnostic information was provided by Tl-weighted fatsuppressed imaging before and after gadolinium enhancement on 27 of 34 cases with abnorm8I pancreas, followed by immediately postcontrast GRE images. Precontrast GRE imaging better showed the features of acute pancreatitis. FSE T2WI obviously exhibited lsiet cell tumor and metastases of Iiver from pancreatic adenocarcinoma. Conclusion The standard MR protocol included T1-weigkted fat-suppressed image and dynamic GRE imaging.
文摘BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.
