目的通过对比分析“亚洲型”DEL孕妇与真阴性孕妇的临床抗-D同种免疫发生率,评估“亚洲型”DEL孕妇免于抗-D监测及RhD免疫球蛋白注射的可行性。方法收集2022年12月至2024年8月期间在本院就诊的165例经盐水法初筛为RhD阴性的孕妇作为研...目的通过对比分析“亚洲型”DEL孕妇与真阴性孕妇的临床抗-D同种免疫发生率,评估“亚洲型”DEL孕妇免于抗-D监测及RhD免疫球蛋白注射的可行性。方法收集2022年12月至2024年8月期间在本院就诊的165例经盐水法初筛为RhD阴性的孕妇作为研究对象。采用吸收放散试验、DEL基因分型和基因测序等技术将孕妇分为“亚洲型”DEL组和真阴性组。在获得知情同意的前提下,本研究对“亚洲型”DEL孕妇实施以下临床管理方案:免除常规抗-D检测、免于RhD免疫球蛋白注射和孕妇输注RhD阳性红细胞,待产后送检胎儿新生儿溶血病(hemolytic disease of the fetus and newborn,HDFN)检测。对真阴性孕妇实施常规管理方案。观察对比2组的同种免疫和HDFN发生情况。结果在165例初筛RhD阴性孕妇中,经血清学检测和基因分型鉴定,最终确认42例为“亚洲型”DEL、9例为D变异型和114例为真阴性。在42例“亚洲型”DEL孕妇中,3例因接受RhD免疫球蛋白注射而导致HDFN检测阳性;其余39例在充分告知风险后免除抗-D检测,未接受RhD免疫球蛋白预防,新生儿出生后HDFN检测均阴性。真阴性组中,20例检测到抗-D,其中6例HDFN检测阳性。1例“亚洲型”DEL孕妇在输注2单位RhD阳性红细胞后,未出现RhD同种免疫反应。统计结果显示,“亚洲型”DEL孕妇发生抗-D同种免疫的风险显著低于真阴性孕妇(P<0.05)。结论“亚洲型”DEL孕妇可免于常规抗-D检测,无需常规预防性RhD免疫球蛋白注射。展开更多
Dear editor,I am Dr.Jie Peng,from the Department of Ophthalmology,Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,China.I write to present a case report of a novel in-frame del...Dear editor,I am Dr.Jie Peng,from the Department of Ophthalmology,Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,China.I write to present a case report of a novel in-frame deletion mutation c.17779del TAC of neurofibromatosis type 1 in a Chinese boy with bilateral blindness.Neurofibromatosis type 1(NF1;OMIM#162200),an autosomal dominant disease,is caused by mutations in the NF1gene.The incidence of this disease is around 1 in 3500展开更多
目的研究昆明地区RhD初筛阴性献血者RHD基因的多态性及其分子机制,为建立区域性献血者RHD基因数据库提供数据支持。方法选择昆明地区2023年11月-2024年8月初筛RhD阴性标本218例,采用间接抗球蛋白试验法(IAT)进行RhD阴性确认,采用盐水试...目的研究昆明地区RhD初筛阴性献血者RHD基因的多态性及其分子机制,为建立区域性献血者RHD基因数据库提供数据支持。方法选择昆明地区2023年11月-2024年8月初筛RhD阴性标本218例,采用间接抗球蛋白试验法(IAT)进行RhD阴性确认,采用盐水试管法进行RhCE表型鉴定。提取全血基因组DNA,采用PCR-SSP法/SSP荧光PCR染料法进行RHD基因分型,对无法确定基因型的标本进行RHD基因1~10外显子Sanger测序分析。结果检出RhD真阴性表型179例(82.11%),其中RHD*01N.01(RHD全缺失)型154例(86.03%),表型以ccee为主(87.01%);携带非功能性RHD等位基因25例(13.97%),包括RHD*01N.0320例、RHD*01N.163例、RHD*01N.051例、RHD*01N.591例,表型以Ccee为主(64%)。检出D变异型39例(15.89%),其中RHD*DEL1(c.1227G>A)型34例,表型均为C抗原阳性(Ccee 27例,CCee 7例);弱D/部分D型4例,包括RHD*DVI.32例、RHD*weak D type 711例、RHD*weak D type1081例;另检出1例RHD*01/RHD*01N.01,基因型与血清学表型结果不一致。RHD*01N.01女性献血者不规则抗体(主要为抗-D)阳性率9.84%。结论昆明地区RhD初筛阴性献血者RHD基因多态性显著,RhD真阴性比例高于国内部分地区,D变异型以“亚洲型”DEL为主,比例低于国内部分地区。研究结果为本地区RhD阴性和D变异型个体精准输血提供了理论和数据支持。展开更多
Objectives: Type 2 diabetes mellitus (T2DM) patients are at increased risk of cardiovascular diseases (CVDs). Several polymorphisms in the cholesterol ester transfer protein (CETP) gene have been reported. The aim of ...Objectives: Type 2 diabetes mellitus (T2DM) patients are at increased risk of cardiovascular diseases (CVDs). Several polymorphisms in the cholesterol ester transfer protein (CETP) gene have been reported. The aim of this study was to determine the distribution and effect of the Taq1B polymorphism in the CETP gene on clinical and biochemical indicators of CVD risk in a population of endogamous-T2DM men. Methods: 102 men (57.5 ± 9.3 years old) inhabitants of Santa Rosa del Conlara, San Luis, Argentina, were recruited and assigned into two groups (22 control and 80 T2DM). Further, these two groups were subdivided according to their Taq1B CETP gene genotypes (i.e., B1B1, B1B2 and B2B2). Clinical and fasting-plasma biochemical indicators of CVD risk were measured and their association with the B1 allele was determined. Results: Compared to control, T2DM men had more central obesity, hypertension, atherogenic index, insulin resistance and poorly controlled diabetes. Compared to T2DM men having the B2 allele, those T2DM men having the B1 allele have increased risk of CVD as assessed by systolic blood pressure (156 ± 16.0 vs 135.8 ± 19.2, p = 0.015), atherogenic index (6.15 ± 1.3 vs 4.4 ± 0.7, p = 0.0008), HDL-c levels (38.9 ± 5.3 vs 64.4 ± 8.2, p ± 3.0 vs 2.4 ± 0.78, p = 0.004). Interestingly, only body mass index (r = ﹣0.559, p = 0.01) and HDL-c concentration (r = ﹣0.492, p = 0.02) negatively correlated with CVD risk in the endogamous population of B1B1 and B1B2 T2DM men. Conclusion: The B1 allele of the CETP gene predicts cardiovascular complications in an endogamous population of T2DM men.展开更多
文摘目的通过对比分析“亚洲型”DEL孕妇与真阴性孕妇的临床抗-D同种免疫发生率,评估“亚洲型”DEL孕妇免于抗-D监测及RhD免疫球蛋白注射的可行性。方法收集2022年12月至2024年8月期间在本院就诊的165例经盐水法初筛为RhD阴性的孕妇作为研究对象。采用吸收放散试验、DEL基因分型和基因测序等技术将孕妇分为“亚洲型”DEL组和真阴性组。在获得知情同意的前提下,本研究对“亚洲型”DEL孕妇实施以下临床管理方案:免除常规抗-D检测、免于RhD免疫球蛋白注射和孕妇输注RhD阳性红细胞,待产后送检胎儿新生儿溶血病(hemolytic disease of the fetus and newborn,HDFN)检测。对真阴性孕妇实施常规管理方案。观察对比2组的同种免疫和HDFN发生情况。结果在165例初筛RhD阴性孕妇中,经血清学检测和基因分型鉴定,最终确认42例为“亚洲型”DEL、9例为D变异型和114例为真阴性。在42例“亚洲型”DEL孕妇中,3例因接受RhD免疫球蛋白注射而导致HDFN检测阳性;其余39例在充分告知风险后免除抗-D检测,未接受RhD免疫球蛋白预防,新生儿出生后HDFN检测均阴性。真阴性组中,20例检测到抗-D,其中6例HDFN检测阳性。1例“亚洲型”DEL孕妇在输注2单位RhD阳性红细胞后,未出现RhD同种免疫反应。统计结果显示,“亚洲型”DEL孕妇发生抗-D同种免疫的风险显著低于真阴性孕妇(P<0.05)。结论“亚洲型”DEL孕妇可免于常规抗-D检测,无需常规预防性RhD免疫球蛋白注射。
文摘Dear editor,I am Dr.Jie Peng,from the Department of Ophthalmology,Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,China.I write to present a case report of a novel in-frame deletion mutation c.17779del TAC of neurofibromatosis type 1 in a Chinese boy with bilateral blindness.Neurofibromatosis type 1(NF1;OMIM#162200),an autosomal dominant disease,is caused by mutations in the NF1gene.The incidence of this disease is around 1 in 3500
文摘目的研究昆明地区RhD初筛阴性献血者RHD基因的多态性及其分子机制,为建立区域性献血者RHD基因数据库提供数据支持。方法选择昆明地区2023年11月-2024年8月初筛RhD阴性标本218例,采用间接抗球蛋白试验法(IAT)进行RhD阴性确认,采用盐水试管法进行RhCE表型鉴定。提取全血基因组DNA,采用PCR-SSP法/SSP荧光PCR染料法进行RHD基因分型,对无法确定基因型的标本进行RHD基因1~10外显子Sanger测序分析。结果检出RhD真阴性表型179例(82.11%),其中RHD*01N.01(RHD全缺失)型154例(86.03%),表型以ccee为主(87.01%);携带非功能性RHD等位基因25例(13.97%),包括RHD*01N.0320例、RHD*01N.163例、RHD*01N.051例、RHD*01N.591例,表型以Ccee为主(64%)。检出D变异型39例(15.89%),其中RHD*DEL1(c.1227G>A)型34例,表型均为C抗原阳性(Ccee 27例,CCee 7例);弱D/部分D型4例,包括RHD*DVI.32例、RHD*weak D type 711例、RHD*weak D type1081例;另检出1例RHD*01/RHD*01N.01,基因型与血清学表型结果不一致。RHD*01N.01女性献血者不规则抗体(主要为抗-D)阳性率9.84%。结论昆明地区RhD初筛阴性献血者RHD基因多态性显著,RhD真阴性比例高于国内部分地区,D变异型以“亚洲型”DEL为主,比例低于国内部分地区。研究结果为本地区RhD阴性和D变异型个体精准输血提供了理论和数据支持。
文摘Objectives: Type 2 diabetes mellitus (T2DM) patients are at increased risk of cardiovascular diseases (CVDs). Several polymorphisms in the cholesterol ester transfer protein (CETP) gene have been reported. The aim of this study was to determine the distribution and effect of the Taq1B polymorphism in the CETP gene on clinical and biochemical indicators of CVD risk in a population of endogamous-T2DM men. Methods: 102 men (57.5 ± 9.3 years old) inhabitants of Santa Rosa del Conlara, San Luis, Argentina, were recruited and assigned into two groups (22 control and 80 T2DM). Further, these two groups were subdivided according to their Taq1B CETP gene genotypes (i.e., B1B1, B1B2 and B2B2). Clinical and fasting-plasma biochemical indicators of CVD risk were measured and their association with the B1 allele was determined. Results: Compared to control, T2DM men had more central obesity, hypertension, atherogenic index, insulin resistance and poorly controlled diabetes. Compared to T2DM men having the B2 allele, those T2DM men having the B1 allele have increased risk of CVD as assessed by systolic blood pressure (156 ± 16.0 vs 135.8 ± 19.2, p = 0.015), atherogenic index (6.15 ± 1.3 vs 4.4 ± 0.7, p = 0.0008), HDL-c levels (38.9 ± 5.3 vs 64.4 ± 8.2, p ± 3.0 vs 2.4 ± 0.78, p = 0.004). Interestingly, only body mass index (r = ﹣0.559, p = 0.01) and HDL-c concentration (r = ﹣0.492, p = 0.02) negatively correlated with CVD risk in the endogamous population of B1B1 and B1B2 T2DM men. Conclusion: The B1 allele of the CETP gene predicts cardiovascular complications in an endogamous population of T2DM men.
