A1M： To investigate the prevalence of celiac disease （CD） as well as CD marker antibodies and susceptibility HLA-DQ haplotypes in 134 karyotyped Down＇s syndrome （DS） patients. METHODS： Immunoglobulin A （IgA） ...A1M： To investigate the prevalence of celiac disease （CD） as well as CD marker antibodies and susceptibility HLA-DQ haplotypes in 134 karyotyped Down＇s syndrome （DS） patients. METHODS： Immunoglobulin A （IgA） and G （IgG） type anti-gliadin antibodies （AGA）, IgA type anti-tissue transglutaminase （tTG） antibodies （anti-tTG） with antigen of guinea pig and human source were determined by enzyme-linked immunosorbent assay and endomysium antibodies （EHA） by indirect immunofiuoresence test. HLA-DQA1＊0501/DQB1＊0201 （DQ2） was revealed by polymerase chain reaction. Celiac disease was diagnosed by revised ESPGHAN criteria. RESULTS： 41% of DS patients had AGA, 6.0% IgA anti-tTG with guinea pig antigen, and 3.0 % [gA EMA （all positive for anti-tTG with human tTG）. Subtotal villous atrophy was found in 5 out of 9 DS patients who had agreed to small bowel biopsy. One of them had DQA1＊0S01/DQB1＊0201 and anti-tTG and EMA i.e. typical for CD markers （this case also fulfilled the ESPGHAN diagnostic criteria）, but other four lacked these markers. Three non-biopsied DS patients had also most probably CD because DQA1＊0S01/DQB1＊0201 and IgA anti-tTG （EMA） were detected. Thus, the prevalence of CD among our DS patients population is 3.0 % （95 % of confidence interval [CI]： 0.1-5.9 %）. CONCLUSION： We confirm the increased frequency of CD among DS patients. In addition, we have revealed a subgroup of patients with subtotal villous atrophy but without characteristic for CD immunological and genetic markers. Whether these cases represent CD （with atypical immunopathogenesis） or some other immune enteropathy, requires further investigations.展开更多
This case study aims to contribute to the literature in order to highlight the importance of this collaboration between medical specialties. A female patient R.N.N. F, age 66, from the city of Manaus, with a previous ...This case study aims to contribute to the literature in order to highlight the importance of this collaboration between medical specialties. A female patient R.N.N. F, age 66, from the city of Manaus, with a previous diagnosis of Sjogren’s syndrome in regular follow-up by the Rheumatology team at the Araujo Lima outpatient clinic and referred to the Ophthalmology sector for complementary evaluation related to visual discomfort. The fundoscopy performed in the patient was within normal limits, but the symptoms experienced by her proved to be an important clinical finding, which has ratified the need for regular and multidisciplinary follow-up. This report unequivocally demonstrates that even in the face of tests considered within the expected limits for a given population, the clinical presentation can be specific and particular for each analyzed individual. Early screening exams should contemplate the patient in a holistic and individualized way whenever possible.展开更多
Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double mark...Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double marker （pregnancy-associated plasma protein A and free [B-human chorionic gonadotropin） screening （FTDMS）, second trimester double marker （c{-fetoprotein and free B-human chorionic gonadotropin） screening （STDMS）, and second trimester triple marker （a-fetoprotein, free 13-human chorionic gonadotropin and unconjugated estriol 3） screening （STTMS）, respectively. The sensitivity, specificity, false positive rate （FPR）, false negative rate （FNR） and the areas under ROC curves （AUCs） were estimated in order to determine the optimal screening method in women under or above 35 years old. Results For women under 35 years old, STTMS was the best method with a detection rate of 68.8% and FPR of 4.3% followed by the STDMS with a detection rate （sensitivity） of 66.7% and FPR of 4.9%. The FTDMS had a lower detection rate of 61.1% and FPR of 6.3%. For women above 35 years old, the detection rate of all the methods was similar, but STTMS method had a lowest FPR of 15.9%. For women under 35 years old AUCs were 0.77 （95% CI, 0.64 to 0.91）, 0.81 （95% CI, 0.71 to 0.91）, and 0.82 （95% CI, 0.69 to 0.96） for FTDMS, STDMS, and STTMS methods, respectively; for those above 35 years old, AUCs were 0.70 （95% CI, 0.56 to 0.83）, 0.70 （95% CI, 0.59 to 0.82）, 0.78 （95% Cl, 0.58 to 0.97） for FTDMS, STDMS and SITMS, respectively. Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35. For individual women, if economic condition permits, STFMS is the best choice, while for women aged above 35, STTMS is the best choice in this regard.展开更多
目的建立孕早期产前筛查孕妇血清解整合素金属蛋白酶12分泌型(a disintegrin and metalloprotease,ADAM12-S)中位数倍数的校正方法。方法随机选择2008年在本中心自愿参加孕早期唐氏综合征(DS)产前筛查并经随访证实分娩健康儿的孕妇孕8...目的建立孕早期产前筛查孕妇血清解整合素金属蛋白酶12分泌型(a disintegrin and metalloprotease,ADAM12-S)中位数倍数的校正方法。方法随机选择2008年在本中心自愿参加孕早期唐氏综合征(DS)产前筛查并经随访证实分娩健康儿的孕妇孕8～13周血清样本577份,用时间分辨荧光免疫分析法检测血清ADAM12-S浓度。用SPSS 15.0软件构建ADAM12-S与孕龄间的回归关系,选最优模型计算中位浓度,得到ADAM12-S中位数倍数(multiple of the median,MoM)值。探讨MoM值与体重的关系,选取最优模型求出经体重调整后的MoM值。将ADAM12-S初始浓度与消除孕周和体重影响校正后的最终MoM值进行曲线拟合,选取最优模型最终得到ADAM12-S初始浓度与校正后MoM值的关系方程。结果 ADAM12-S中位数(Y)与孕周(t)呈正相关,经s曲线模型拟合后的中位数方程为:Y=e8.412-24.534/t;ADAM12-S MoM值中位数(Y)与体重中位数(z)存在负相关,经指数模型拟合后的方程为:Y=1.603*e-0.009*z;ADAM12-S初始浓度(X)与孕周和体重校正后的最终MoM值(Y)的关系方程为Y=0.036*X0.552。结论 ADAM12-S初始浓度与最终MoM值的关系方程的建立,对临床开展ADAM12-S筛查DS妊娠的研究有重要意义。展开更多
基金Supported by Estonian Science Foundation grants No. 4437 and 6514.
文摘A1M： To investigate the prevalence of celiac disease （CD） as well as CD marker antibodies and susceptibility HLA-DQ haplotypes in 134 karyotyped Down＇s syndrome （DS） patients. METHODS： Immunoglobulin A （IgA） and G （IgG） type anti-gliadin antibodies （AGA）, IgA type anti-tissue transglutaminase （tTG） antibodies （anti-tTG） with antigen of guinea pig and human source were determined by enzyme-linked immunosorbent assay and endomysium antibodies （EHA） by indirect immunofiuoresence test. HLA-DQA1＊0501/DQB1＊0201 （DQ2） was revealed by polymerase chain reaction. Celiac disease was diagnosed by revised ESPGHAN criteria. RESULTS： 41% of DS patients had AGA, 6.0% IgA anti-tTG with guinea pig antigen, and 3.0 % [gA EMA （all positive for anti-tTG with human tTG）. Subtotal villous atrophy was found in 5 out of 9 DS patients who had agreed to small bowel biopsy. One of them had DQA1＊0S01/DQB1＊0201 and anti-tTG and EMA i.e. typical for CD markers （this case also fulfilled the ESPGHAN diagnostic criteria）, but other four lacked these markers. Three non-biopsied DS patients had also most probably CD because DQA1＊0S01/DQB1＊0201 and IgA anti-tTG （EMA） were detected. Thus, the prevalence of CD among our DS patients population is 3.0 % （95 % of confidence interval [CI]： 0.1-5.9 %）. CONCLUSION： We confirm the increased frequency of CD among DS patients. In addition, we have revealed a subgroup of patients with subtotal villous atrophy but without characteristic for CD immunological and genetic markers. Whether these cases represent CD （with atypical immunopathogenesis） or some other immune enteropathy, requires further investigations.
文摘This case study aims to contribute to the literature in order to highlight the importance of this collaboration between medical specialties. A female patient R.N.N. F, age 66, from the city of Manaus, with a previous diagnosis of Sjogren’s syndrome in regular follow-up by the Rheumatology team at the Araujo Lima outpatient clinic and referred to the Ophthalmology sector for complementary evaluation related to visual discomfort. The fundoscopy performed in the patient was within normal limits, but the symptoms experienced by her proved to be an important clinical finding, which has ratified the need for regular and multidisciplinary follow-up. This report unequivocally demonstrates that even in the face of tests considered within the expected limits for a given population, the clinical presentation can be specific and particular for each analyzed individual. Early screening exams should contemplate the patient in a holistic and individualized way whenever possible.
基金supported by the National Natural Science Foundation of China (81101655)the grant from the China Postdoctoral Science Foundation (2011M501282)the grant from Hunan Provincial Science & Tecnology Departemnt(2009SK3048)
文摘Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double marker （pregnancy-associated plasma protein A and free [B-human chorionic gonadotropin） screening （FTDMS）, second trimester double marker （c{-fetoprotein and free B-human chorionic gonadotropin） screening （STDMS）, and second trimester triple marker （a-fetoprotein, free 13-human chorionic gonadotropin and unconjugated estriol 3） screening （STTMS）, respectively. The sensitivity, specificity, false positive rate （FPR）, false negative rate （FNR） and the areas under ROC curves （AUCs） were estimated in order to determine the optimal screening method in women under or above 35 years old. Results For women under 35 years old, STTMS was the best method with a detection rate of 68.8% and FPR of 4.3% followed by the STDMS with a detection rate （sensitivity） of 66.7% and FPR of 4.9%. The FTDMS had a lower detection rate of 61.1% and FPR of 6.3%. For women above 35 years old, the detection rate of all the methods was similar, but STTMS method had a lowest FPR of 15.9%. For women under 35 years old AUCs were 0.77 （95% CI, 0.64 to 0.91）, 0.81 （95% CI, 0.71 to 0.91）, and 0.82 （95% CI, 0.69 to 0.96） for FTDMS, STDMS, and STTMS methods, respectively; for those above 35 years old, AUCs were 0.70 （95% CI, 0.56 to 0.83）, 0.70 （95% CI, 0.59 to 0.82）, 0.78 （95% Cl, 0.58 to 0.97） for FTDMS, STDMS and SITMS, respectively. Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35. For individual women, if economic condition permits, STFMS is the best choice, while for women aged above 35, STTMS is the best choice in this regard.
文摘目的建立孕早期产前筛查孕妇血清解整合素金属蛋白酶12分泌型(a disintegrin and metalloprotease,ADAM12-S)中位数倍数的校正方法。方法随机选择2008年在本中心自愿参加孕早期唐氏综合征(DS)产前筛查并经随访证实分娩健康儿的孕妇孕8～13周血清样本577份,用时间分辨荧光免疫分析法检测血清ADAM12-S浓度。用SPSS 15.0软件构建ADAM12-S与孕龄间的回归关系,选最优模型计算中位浓度,得到ADAM12-S中位数倍数(multiple of the median,MoM)值。探讨MoM值与体重的关系,选取最优模型求出经体重调整后的MoM值。将ADAM12-S初始浓度与消除孕周和体重影响校正后的最终MoM值进行曲线拟合,选取最优模型最终得到ADAM12-S初始浓度与校正后MoM值的关系方程。结果 ADAM12-S中位数(Y)与孕周(t)呈正相关,经s曲线模型拟合后的中位数方程为:Y=e8.412-24.534/t;ADAM12-S MoM值中位数(Y)与体重中位数(z)存在负相关,经指数模型拟合后的方程为:Y=1.603*e-0.009*z;ADAM12-S初始浓度(X)与孕周和体重校正后的最终MoM值(Y)的关系方程为Y=0.036*X0.552。结论 ADAM12-S初始浓度与最终MoM值的关系方程的建立,对临床开展ADAM12-S筛查DS妊娠的研究有重要意义。
