Russell小体胃炎(Russell body gastritis,RBG)于1998年由Tazawa等[1]首次报道并命名。Russell小体胃炎是一种罕见的胃黏膜病变,其定义是胃黏膜中含有Russell小体浆细胞的胃炎,其特征是黏膜内含有嗜酸性细胞质的浆细胞的浸润。Russell...Russell小体胃炎(Russell body gastritis,RBG)于1998年由Tazawa等[1]首次报道并命名。Russell小体胃炎是一种罕见的胃黏膜病变,其定义是胃黏膜中含有Russell小体浆细胞的胃炎,其特征是黏膜内含有嗜酸性细胞质的浆细胞的浸润。Russell小体于1890年由Russell[2]首次提出是由于内质网和高尔基复合体在分泌球蛋白过程中被阻塞所形成。展开更多
Patients with advanced-stage tumors may experience various psychological problems that can have a significant impact on the effectiveness of cancer treatment and the quality of their survival.Therefore,it is crucial f...Patients with advanced-stage tumors may experience various psychological problems that can have a significant impact on the effectiveness of cancer treatment and the quality of their survival.Therefore,it is crucial for oncologists to prioritize addressing the psychological issues that patients encounter throughout the diagnosis and treatment process.As future frontline healthcare professionals,oncology medical students should receive education on end-of-life care early on in their training.This will enable them to develop a profound appreciation for the value of life,deliver improved medical services,and contribute to the humanization of medicine.Furthermore,they will be able to provide terminal patients and their families with effective professional guidance,assisting patients in finding peaceful endings with minimal pain and helping families come to terms with the inevitable realities they face.Moreover,this education can effectively enhance their sense of responsibility toward life and cultivate a positive and optimistic attitude toward their own lives.展开更多
目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES...目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES)及拷贝数变异测序(copy number variation sequencing,CNV-seq)技术检测,可疑结果经Sanger测序进行验证。结果:胎儿高迁移率族蛋白A2(high mobility group protein AT-Hook-2,HMGA2)基因存在c.223C>T(p.R75W)新发变异,导致氨基酸改变为p.R75W(p.Arg75Trp),为错义突变。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级,该变异判定为可能致病性(likely pathogenic):PS2+PM2_Supporting+PP3+PS4_Supporting。根据其临床表型,该胎儿被确诊为常染色体显性遗传的Silver-Russell综合征5型(Silver-Russell syndrome 5,SRS5)。Sanger测序确证了其变异的真实性。结论:HMGA2基因的c.223C>T(p.R75W)杂合致病性变异可能是SRS5的遗传学致病原因,扩充了该基因的变异谱,同时为该胎儿的产前遗传咨询和后续的干预措施提供了理论依据。展开更多
文摘Russell小体胃炎(Russell body gastritis,RBG)于1998年由Tazawa等[1]首次报道并命名。Russell小体胃炎是一种罕见的胃黏膜病变,其定义是胃黏膜中含有Russell小体浆细胞的胃炎,其特征是黏膜内含有嗜酸性细胞质的浆细胞的浸润。Russell小体于1890年由Russell[2]首次提出是由于内质网和高尔基复合体在分泌球蛋白过程中被阻塞所形成。
文摘Patients with advanced-stage tumors may experience various psychological problems that can have a significant impact on the effectiveness of cancer treatment and the quality of their survival.Therefore,it is crucial for oncologists to prioritize addressing the psychological issues that patients encounter throughout the diagnosis and treatment process.As future frontline healthcare professionals,oncology medical students should receive education on end-of-life care early on in their training.This will enable them to develop a profound appreciation for the value of life,deliver improved medical services,and contribute to the humanization of medicine.Furthermore,they will be able to provide terminal patients and their families with effective professional guidance,assisting patients in finding peaceful endings with minimal pain and helping families come to terms with the inevitable realities they face.Moreover,this education can effectively enhance their sense of responsibility toward life and cultivate a positive and optimistic attitude toward their own lives.
文摘目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES)及拷贝数变异测序(copy number variation sequencing,CNV-seq)技术检测,可疑结果经Sanger测序进行验证。结果:胎儿高迁移率族蛋白A2(high mobility group protein AT-Hook-2,HMGA2)基因存在c.223C>T(p.R75W)新发变异,导致氨基酸改变为p.R75W(p.Arg75Trp),为错义突变。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级,该变异判定为可能致病性(likely pathogenic):PS2+PM2_Supporting+PP3+PS4_Supporting。根据其临床表型,该胎儿被确诊为常染色体显性遗传的Silver-Russell综合征5型(Silver-Russell syndrome 5,SRS5)。Sanger测序确证了其变异的真实性。结论:HMGA2基因的c.223C>T(p.R75W)杂合致病性变异可能是SRS5的遗传学致病原因,扩充了该基因的变异谱,同时为该胎儿的产前遗传咨询和后续的干预措施提供了理论依据。