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
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
目的研究四川省南充地区初检为Rh阴性无偿献血者中D变异体血清学表型。方法对433份初检为Rh阴性的血样(来自于2010年4月至2014年9月四川省南充地区无亲缘关系的154 392名汉族无偿献血者)用间接抗球蛋白试验鉴定D变异体,再用吸收放散试...目的研究四川省南充地区初检为Rh阴性无偿献血者中D变异体血清学表型。方法对433份初检为Rh阴性的血样(来自于2010年4月至2014年9月四川省南充地区无亲缘关系的154 392名汉族无偿献血者)用间接抗球蛋白试验鉴定D变异体,再用吸收放散试验从间接抗球蛋白试验阴性的血样检出DEL型,对所有血样进行不规则抗体筛选鉴定。结果 433份送检标本中共确认Rh阴性402例(92.8%,402/433),检出23例D变异体(5.3%,23/433),其中Dvcc Ee 8例(34.8%,8/23),Dv Ccee和Dv Cc Ee各6例(分别为26.1%,6/23),Dv CCee 3例(13.0%,3/23);检出DEL型3种表型105例,其中Del Ccee 87例(82.9%,87/105),Del CCee 16例(15.2%,16/105),Del Cc Ee 2例(1.9%,2/105),均与C抗原相关;在D变异体和DEL型献血者血浆标本中未检出不规则抗体。结论通过该次调查,掌握了四川省南充地区初检为Rh阴性献血者D变异体血清学表型,对于指导临床输血及预防新生儿溶血病等具有重要意义。展开更多
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.
文摘目的研究四川省南充地区初检为Rh阴性无偿献血者中D变异体血清学表型。方法对433份初检为Rh阴性的血样(来自于2010年4月至2014年9月四川省南充地区无亲缘关系的154 392名汉族无偿献血者)用间接抗球蛋白试验鉴定D变异体,再用吸收放散试验从间接抗球蛋白试验阴性的血样检出DEL型,对所有血样进行不规则抗体筛选鉴定。结果 433份送检标本中共确认Rh阴性402例(92.8%,402/433),检出23例D变异体(5.3%,23/433),其中Dvcc Ee 8例(34.8%,8/23),Dv Ccee和Dv Cc Ee各6例(分别为26.1%,6/23),Dv CCee 3例(13.0%,3/23);检出DEL型3种表型105例,其中Del Ccee 87例(82.9%,87/105),Del CCee 16例(15.2%,16/105),Del Cc Ee 2例(1.9%,2/105),均与C抗原相关;在D变异体和DEL型献血者血浆标本中未检出不规则抗体。结论通过该次调查,掌握了四川省南充地区初检为Rh阴性献血者D变异体血清学表型,对于指导临床输血及预防新生儿溶血病等具有重要意义。
