Complement Inhibitors in Rare Diseases / 罕见病研究

The complement system is a self-protection mechanism of the human body. The abnormal activation of the complement system is involved in the occurrence and development of various diseases. The application of complement inhibitors in many rare diseases was a milestone in leading to the progress of such disease as paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome (aHUS), and others. Recently, the application of complement inhibitors has gradually expanded to other complement-related diseases. This review summarizes the literature on the current application of complement inhibitors in rare diseases and looks into the prospects of the application in the rare diseases.

STUDY ON 10 668 CASES OF SECOND-TRIMESTER MATERNAL SERUM SCREENING / 现代医院

Objective To evaluate the clinical value of prenatal screening by analyzing the second -trimes-ter maternal serum screening results and prognosis .Methods The second-trimester maternal serum screening in-cluding alpha-fetoprotein (AFP) andβ-human chorionic gonadotrophin (β-HCG) was tested by time-resolu-tion immunofluorescence .2T-Risks software was used to evaluate fetal risk of three kinds of defects , such as trisomy 21, trisomy 18 and neural tube defects (NTD).For those of pregnant women with high -risk screening results, am-niotic fluid, umbilical cord blood karyotype analysis or four -dimensional color Doppler ultrasound scan can be rec-ommended to confirm the diagnosis .Results This research included the analysis of 10 668 cases of pregnant meta-phase prenatal screening results .677 cases were in high-risk, which took up 6.35%.Among those 677 cases, 501 cases had high-risk 21-trisomy Syndrome , and 104 cases had high-risk NTD.72 cases with high-risk 18-tri-somy Syndrome had been found , and the percentage of those cases above were 4.70%, 0.97%and 0.67%, respec-tively.As for the 677 follow-up pregnant women with high risks , the results indicated that during those 356 high-risk women, who had performed prenatal diagnosis , 2 cases of 21-trisomy Syndrome, 3 cases of NTD, and 4 cases of structural abnormalities had been found .In addition , there were 19 cases of spontaneous abortion and stillbirth , as well as 10 cases of other abnormalities .There are 40 abnormal cases in total , which took up an abnormal percentage of 5.91%.In those 9 991 follow-up pregnant women with low risks , there are 57 cases (0.57%) presented abnor-mal, in which had 1 cases with 21-trisomy Syndrome, 2 cases with NTD, 3 cases with deformity, 23 cases of spon-taneous abortion and stillbirth and 28 other abnormal cases .Conclusion The second -trimester maternal serum screening plays an important clinical role in the prediction of abnormal fetus and prevention of birth defects .

Targeting transforming growth factor-βreceptor Ⅱ aptamer binding sites prediction and validation studies / 重庆医学

Objective To predict the binding sites of transforming growth factor-βreceptor Ⅱ (TβRⅡ ) ectodomain and the aptamer S58 specifically targeted TβRⅡ ,and to confirm the structure stability of the aptamer S 58 in vitro .Methods We created three-dimensional structure by utilizing ssDNA aptamer sequences ,the crystal structure of the TβRⅡ was searched by protein data bank database .According to the results of the molecular docking experiments on aptamer S 58 and TβRⅡ ectodomain ,we sheared the aptamer sequences ,then verified its affinity respectively by biosensor technology and Western blot .Results Binding sites of aptamers S58 and TRβⅡ ectodomain included site Ⅰ(T4 ,T5 ,G6 ,C7) ,site Ⅱ(G13 ,A14 ,T15 ,C16 ,G17 ,C18 ) ,site Ⅲ (T31 ,G32 , T33 ,C34) and site Ⅳ(G40 ,A41 ,T42 ,T43 ,T44 ,G45 ,G46) .We validated the high affinity between aptamer S58 and TRβⅡ ectodo-main .The expression of α-smooth muscle actin(α-SMA) protein in the human tenon′s capsule fibroblasts was descended obviously after the experiment of the aptamer S58 in comparing with the control of DMEM (P< 0 .05) .But the new ssDNA by shear the aptamer ssDNA S58 according to the results were poor than aptamers S58 .Conclusion The aptamer S58 targeted TβRⅡ was high-ly specific with a certain stability ,any changing of structure will reduce the affinity of TβRⅡ .Computer-aided molecular docking technology has become an important means of an exploratory intermolecular interaction ,and can provides a good theoretical basis on medical research .