Objective To explore the characteristics of WAS gene mutation in Wiskott-Aldrich syndrome (WAS). Methods The clinical data of one infant with WAS were retrospectively analyzed. All exons and flanking sequences in WAS gene were detected by PCR. Results A 5-month-old boy, who has a history of eczema and recurrent infection, was hospitalized for thrombocytopenia. CD8+ and CD4+T cell were increased while CD19+B cell was normal. Bone marrow cytology suggested megakaryocyte mature hindrance. WAS gene detection found C.880 A?>?G (p.Ile294Val) mutation, but no mutations were found in parents. This site was a pathogenic mutation predicted by Polyphen 2 software and SIFT software. Besides, sequence conservation analysis of different species found it was a conservative site and structural prediction analysis revealed it may affect the normal protein structure. This site of mutation has not been reported before. Conclusions Gene detection can make early diagnosis of WAS and C.880 A?>?G (p.Ile294Val) is a new mutation.

OBJECTIVE: To optimize the extraction process of Xiaozheng plaster, a traditional Chinese medicine. METHODS: Xiaozheng plaster was prepared by water extraction and alcohol precipitation method with stachydrine content in water and the yield of powdered extract as evaluation indexes. The orthogonal test was carried out to optimize the reasonable parameters of the extraction process. RESULTS: The optimal extraction process for the prescription was adding 12-fold of water and decocting for 90 minutes at each time for three times altogether with alcohol precipitation concentration at 45%. CONCLUSION: The extractive condition can be optimized through visual analysis and the preparation technology is feasible.

Objective To establish written and electronic archives of Schistosoma japonicum antibody indirect hemagglutina-tion(IHA)tests. Methods In the process of schistosomiasis screening by IHA,the written records,electronic records,and se-rum sample bank were combined to make comprehensive archives. Results The S. japonicum antibody IHA test archives can pre-serve the schistosomiasis screening data in the long term and even can trace the source of experiments,and the operation was sim-ple. Conclusion The archives of S. japonicum antibody IHA tests are simple and useful,and worth of popularization.

Objective To grasp bilirubin in the quality control serum and calibration items in the same batch the variation law of the designed to ensure that the test quality and the use of reasonable quality control serum and calibration items ,control testing cost .Methods laboratories use The double level quality control serum and calibration items after dilution is divided into five groups ,with automatic biochemical analyzer test for 12 weeks and recorded results of TBIL ,DBIL .use SPSS 17 .0 to calculate the mean ,standard deviation ,coefficient of variation ,Normal distribution analysis and make the results trend line chart to observe any changes .Results RANDOX normal concentration quality control serum TBIL and DBIL values variation RCV% 26 .0% ,48 .2% , more than CLIA bilirubin projects allow 1/3 of the total error value(6 .67% ) .Normal distribution test ,P value was 0 .006 ,0 .012 , less than 0 .05 ,do not obey the normal distribution ,test results line chart is on the decline .LEADMAN high concentration quality control serum and bilirubin calibration items TBIL and DBIL variation RCV% <6 .67% ,normal distribution test all P>0 .05 ,obey the normal distribution ,test results no trend line chart .Conclusion Through the experiment observation to the quality control ser‐um and calibration items bilirubin in the variation law of 12 weeks .Experimenter can be used according to the actual situation to ad‐just ,not only to ensure the quality of the bilirubin test ,and to get the most out of the quality control serum and calibration items use efficiency ,reduce the test cost .

Objective To understand the changes of positive rates of IHA detections of outpatients in schistosomiasis clinic. Results The data of IHA detections of outpatients in schistosomiasis clinic in Hubei Provincial Center for Disease Control and Prevention were collected and analyzed statistically from 2005 to 2014. Results A total of 7 113 outpatients were detected by IHA test,and 547 of them were positives with a positive rate of 7.69%. The positive rate of IHA test was on an upward slope be?fore 2008,and the rate reached 14.85% in 2008,which was significantly higher than that in 2005(5.81%)( χ2 = 47.40,P<0.01),then it was on a declined stage after 2008,and the positive rate decreased to 3.76 in 2014,which was significantly lower than that in 2008( χ2 = 12.29,P<0.01). The positive rate of outpatients in the 10~<30 years age group was higher than those in other age groups(all P < 0.012 5),and the male positives were more than the female ones. Conclusions The schisto?somiasis endemic situation has been significantly decreased in Hubei Province. The male and people in 10~<30 age group are the high risk groups,so the targeted health education should be strengthened.

This study was aimed to observe renoprotective effect and possible mechanism on Y i-Shui Sheng-Xin Yin in spontaneously hypertensive rats. Sixty 12-week male SHR rats were randomly divided into six groups , which were the Y i-Shui She ng-X in Y in low-dose group , middle-dose group , high-dose group , Benazepril group , model group and blank control group , and ten rats for each group . The SHR rats were sacrificed after eight weeks . The urine microalbumin , blood urea nitrogen and cystatin were tested in each rat . The HE and Masson staining method were used to observe changes of renal pathology . Changes of expression of transforming growth factor-β1 ( TGF-β1 ) , connective tissue growth factor ( CTGF ) , FN were detected by immunohistochemistry . The results showed that compared with the blank control group , blood pressure in model group was associated with a significant rise after 8 weeks. Compared with the model group, blood pressure in the Yi-Shui Sheng-Xin Yin middle-dose group, high-dose group and Benazepril group significantly decreased. Compared with the blank control group , urine microalbumin , blood urea nitrogen and cystatin in model group were associated with a significant rise . Compared with the model group , urine microalbumin , blood urea nitrogen and cystatin in the Y i-Shui She ng-X in Y in middle-dose group , high-dose group and Benazepril group significantly decreased . Pathological examinations showed that pathological changes in model group were faster than all drug-groups , appeared pathological changes of glomerular hypertrophy , glomerular basement membrane thickening of heterogeneity and extensive vacuoles degeneration . Immunohistochemical staining showed that compared with the blank control group , expressions of TGF-β1 , CTGF and FN of rat kidney tissue in model group were obviously up-regulated ( P < 0 . 05 ) . Compared with the model group , expressions of TGF-β1 , CTGF and FN in the Y i-Shui She ng-X in Y in , middle-dose group , high-dose group and Benazepril group were down-regulated ( P < 0 . 05 ) . It was concluded that Y i-Shui She ng-X in Y in can reduce SHR rats' early renal glomerulosclerosis and renal interstitial fibrosis , which play roles of delaying the progress of hypertension and protecting kidney . Its mechanism of action may be related to TGF-β1 , CTGF , FN signal pathways .

Objective To investigate the relationship between Helicobacter pylori (H. pylori) infection and concentration of reactive oxygen species (ROS) in AGS cells. Methods AGS cells were cultured with either Hp11638 (CagA~+ , VacA~+ ) extract or Hp11638 mutant (CagA~+ , VacA~-) extract for 48 hours, then the cells and supernatants were collected. The concentration of ROS in AGS cells was measured by flow cytometry. The eytochrome C reduction was detected by spectrophotometer at 550 nm. Results The ROS levels in the AGS cells were correlated with two H. pylori strains in a concentration- and time-dependent manner. The ROS levels in AGS cells treated with Hp11638 extract in different concentrations or times were correspondingly higher than those treated with Hp11638 mutant extract. Similar results were found in examination of cytochrome C reduction. Conclusion The elevation of ROS in AGS cells is related to effects of H. pylori proteins, and the VaeA protein involves in the process.

Objective To observe the effect of Herba Hedyotis Diffusae(HHD) on expression of heat shock protein 70(HSP70) and P16 anti-oncogene protein in mice with H22 cell transplanted tumor. Methods The mice were immunized with hepatoma-lines-H22 cells which were treated by Chinese herbs firstly. According to the pretreatment of the Chinese herbs and whether the H22 cells being blocked by HSP70 monoclonal antibody,the mice were divided into 5 groups:HHD non-blocking group,HHD-blocking group,Radix Codonopsis(RC)-blocking group,RC non-blocking group,and RPMI-1640 control group. Then the treated H22 Cells were translated into the mice. The expression of HSP70 and P16 anti-oncogene protein in mice with transplanted H22 liver carcinoma was detected by immunohistochemical marking method. Results The expressions of HSP70 was up-regulated in HDD non-blocking group and RC non-blocking group,in particular in RC non-blocking group,and the difference was significant as compared with HHD-blocking group,RC-blocking group and control blank group.The expression of P16 anti-oncogene protein was up-regulated in the treatment groups,and the difference was significant in comparison with the control group. The effect on P16 anti-oncogene protein expression was stronger in HDD groups than that in RC groups,but the difference was insignificant between the blocking group and the non-blocking group of each herb. Conclusion The anti-tumor effect of HDD may be achieved by inducing HSP70 expression in transplanted H22 neoplasia and by enhancing the immunogenicity. The up-regulation of P16 anti-oncogene expression by HHD and RC has no direct relationship with the induction of HSP70,and the related mechanism needs further research.

Chronic kidney disease (CKD) is becoming a global social problem. It is important to slow down the progression of CKD for economic and social concerns. In recent years, it has been found that colon is one of the vital organs which produce uremic toxins. And enterogenous uremic toxins are closely related to the prognosis of CKD. Theory of gut-kidney axis for the slowdown of CKD progression was raised by foreign scholars and became the research hot spot. Colon therapy with traditional Chinese medicine (TCM) has been widely used in clinical practice and is believed to slow down the progression of CKD by numerous clinical reports. However, low re-search quality and ambiguous results limited its further application. Under the guidance of senior TCM Professor Huang Chunlin, who emphasized the method of draining turbidity through bowels in the management of CKD, from the Nephrology Center, Guangdong Provincial Hospital of Chinese Medicine, as well as the modern theory of gut-kidney axis, we had carried out a series of exploratory researches which will provide data and methodology support for further confirmatory studies and improve its effectiveness.

Objective To investigate a new selection criteria for lower instrumentation vertebrae (LIV) in thoracolumbar adolescent idiopathic scoliosis (AIS).Methods Fifty-two cases of fusion thoracolumbar bend and more than 1.5 years follow up were included.The cases conformed to the AIS selection criteria,i.e.,the first vertebral body touched at the scoliosis distal end in the central sacral vertical line (CSVL) of erect orthotopic X-ray film served as the touch vertebrae (TV),moreover which should meet the following requirements:the Nash-Moe rotation ≤ degree Ⅱ;CSVL located between bilateral vertebral pedicle in the concave side Bending image;no kyphosis of thoracolumbar and lumbar segments existed;the patients with the distance 3-4 mm from CSVL to TV were also included into the study.The operation of each case was carried out by an experienced spine surgeon team.The internal fixation orthopedic fusion of total pedicle screws was adopted by posterior approach.The spine full length of the anterior-posterior and lateral X-ray film and left and right sides Bending images at clinostatism were taken before operation,instantly after operation and at final follow up.The Cobb angle of main bending,trunk shift (TS) at coronal plane,LIV tilting (LIVT) and LIV distal disc angulation (LIVA) were measured.The positions of TV and stable spine were observed,recorded and performed the statistical analysis.Results All cases were followed up for more than 18 months,with an average follow-up period of (23 ± 3) months.The main bending Cobb angles before operation,instantly after operation and at final follow up were (49.32±11.37)°,(9.08 ± 6.78)°and (10.65±6.68)°respectively,LIVT were (21.76±4.68)°,(5.17±4.09)° and (5.16±3.08)° respectively and LIVA were (7.19±5.16)°,(3.16±2.78)° and (4.17±3.28)° respectively;the above indicators had statistical differences between before operation with instantly after operation and at final follow up (P＜0.05).Twenty seven cases were preoperative trunk decompensation,and 5 cases were complicating trunk decompensation at final follow up,which were not increased compared with those before operation.Comparing TV as LIV with adopting stable vertebrae as LIV,the former could save (1.42 ±0.45) fusion segments.Conclusion Adopting the new criteria to conduct thoracolumbar AIS operation saves the fusion segments as compared with commonly used method in clinic.