[ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.

Objective To summarize the incidence and treatment experience of the effectiveness and adverse reactions of the different immunosuppressive protocols and to increase the long-term survival rate in kidney recipients. Methods Single-center retrospective analysis was performed on 3102 cases of kidney transplant recipients in effectiveness and adverse reactions of different immunosuppressive protocols. The immunosuppressive protocols were as follows: CsA + Aza + Pred,low dose CsA + MMF + Pred, low dose Tac + MMF + Pred, low dose CsA + SRL + Pred, and low dose Tac+ SRL+ Pred. Results The 1-, 5-, 10-year survival rate of patients/kidney in low dose CsA + MMF + Pred protocol was higher than that in CsA + Aza + Pred protocol. The incidence of adverse reactions, such as hypertension, hyperuricemia, kidney and liver toxicity, and leukopenia was significantly lower, but the incidence of diarrhea was significantly higher in CsA + MMF + Pred protocol than in CsA + Aza + Pred protocol (all P＜0. 01). The incidence of hyperglycemia was significantly higher (P＜0. 05), and that of hairy and gingival hyperplsia was significantly lower (P＜0. 05) in low dose Tac+ MMF+ Pred than in low dose CsA+ MMF+ Pred protocol. The incidence of hyperlipidemia in low dose CsA (or Tac)+ SRL + Pred was significantly higher than in CsA (or Tac)+ MMF+ Pred protocol (P＜0. 05). The incidence of hirsutism in low dose Tac + SRL + Pred was significantly lower than that in CsA + SRL + Pred protocol (P ＜ 0. 05). The incidence of hyperglycemia in low dose Tac + SRL + Pred was significantly higher than that in low dose CsA + SRL + Pred protocol. Conclusion The triple drug protocol with a low dose of CsA (or Tac)+ MMF+ Pred significantly improved the survival of renal transplant recipients and graft, and reduced the incidence of adverse reactions, especially Tae + MMF + Pred protocol. Adjustment of the immunosuppressant dosage and protocol, improvement of eating habits, exercise, reduction of blood pressure, reduction of blood lipid, and control of blood glucose were particularly important in preventing and controlling adverse reactions during kidney transplantation.

Objective To evaluate the clinical value of adenosine triphosphate (ATP) determination in CD4+ cells in cytomegalovirus pneumonia after renal transplantation.Methods The ATP level of CD4+ T cells was measured by ImmuKnowTM kit.The ATP levels were determined in 187 renal transplant recipients before and 30,60,90,180 days after operation,and at the time of CMV pneumonia and 4 weeks after treatment of CMV pneumonia.The associations between ATP levels and CMV pneumonia were analyzed.Analysis of variance (ANOVA),Pearson-Spearman and relative risks were used for data analysis.Results 17 cases out of 187 renal transplant recipients were diagnosed as CMV pneumonia (9.1％),and the onset of CMV pneumonia started on the (2.8 ±1.2)month after renal transplantation.ATP concentrations in CD4+ T cells were significantly lower after operation than those before operation (P＜0.01).ATP concentrations reached the lowest on the about postoperative day 90 (P＜0.05),then increased gradually.In 17 recipients with CMV pneumonia,the ATP levels before and 30,90 days after operation,at the time of CMV pneumonia and 4th week after treatment of CMV pneumonia were (376 ±182),(283 ± 146),(196 ± 112),(145 ± 102) and (236 ± 117) μg/L respectively.ATP levels at the time of CMV pneumonia were significantly lower than any other time points (P＜0.05).There was close correlation between ATP levels and CMV pneumonia.Conclusion The determination of ATP in CD4+ cells could reflect the status of cell-mediated immunity in renal transplant recipients,and could evaluate the severity and prognosis of CMV pneumonia and guide the clinical treatment.

Objective To explore the clinical effect of renal transplant from donation after citizen's death (DCD) donors with acute kidney injury (AKI).Methods This was an observational retrospective study of 622 patients who underwent renal transplantation from 312 DCD donors' kidneys at the First Affiliated Hospital of Xi'an Jiaotong University from December 2011 to December 2016.The transplant patients were divided into AKI group and non-AKI group according to the Acute Kidney Injury Network (AKIN) criteria based on initial and terminal creatinine values.We evaluated and compared transplant outcomes of these two groups.Results There were 131 donors with AKI,and the incidence of AKI was 42.0 ％.AKI group and non-AKI group recipients respectively had DGF in 20.2％ and 7.2％ of cases (P＜0.01),153.6 ± 56.2 and 119.3 ± 40.7 μmol/L of serum creatinine (SCr) levels at 1st month (P＜0.01),and 38.5 ± 14.1 and 57.6 ± 23.4 ml· min-1 (1.73 m2)-1 of eGFR at 1st month (P＜0.01).There was no significant difference in SCr and eGFR between two groups at 1st year after transplantation.Conclusion Most of kidneys from DCD donors with AKI can be considered for transplantation.Renal transplantation of organs from DCD donors with AKI showed greater DGF but good outcomes.

Objective To study the effects of Chinese herbs Yiyanheji on intestinal mucosa barrier in rats with SAP.Methods Animal models of SAP were induced by retrograde injection of 5% sodium taurocholate (0.1ml/100g) into the common biliopancreatic duct.90 healthy Wistar rats weighing (250?30)g were randomly divided into 3 groups:sham operation group (SO,n=30),SAP group (SAP,n=30) and Chinese herbs Yiyanheji treated group(SAP+YH,n=30).Treated group was treated with Yiyanheji after operation.The SAP group was treated with physiological saline.Three groups of rats were killed at 72 hours after operation or treatment.Bacterial cultures were performed in all animals.The changes of terminal ileum' tissue were observed by optical electron mi- croscopy.The data of test were analyzed by statistic software.Results The incidence of bacterial translocation was 22.5% in Yiyanheji treated group,and it was lower than that in SAP group which was 90.0 %.The difference was significant(P

Objective To report the outcome of emergency repair of severe complex defect in forearm by transplantation of free flap and simultaneous functional reconstruction.Methods From Mar.1994 to Aug.2003,4 cases with severe complex defect in forearm was repaired by transplantation of free skin flap, free skin flap combined with fibula flap,or fibula osteocutaneous flap in emergency.Simultaneously the flexion and extension function were repaired by muscle transfer and/or tendon grafting,tenonectomy.Results All the cases were successful.Follow-up period ranged from 1 to 3 years postoperatively.The blood-supply,tex- ture and elasticity of transferred flaps were excellent with good bone healing.Opposition of thumb with four fin- gers was good.Sensory recovery of the hand was satisfactory.Conclusion Transplantation of free flap com- bined with simultaneous functional reconstruction is an ideal method in emergency repair of severe complex de- fect in forearm.

Objective To find the effective therapeutic arrangement through investigating the clinical characteristics of chronic cardiac insufficiency with anaemia. Methods A total of 46 cases of anemia from 315patients who had been admitted to department of cardiology, the First Affiliated Hospital, Harbin Medical University for chronic cardiac insufficiency with anaemia were selected. They were divided into two groups. There were 22 patients in the first group who only accepted treatment to improve cardiac function (normal cardiac, diuretic,vasodilator therapy, etc.), and 24 patients in the second group who accepted treatment to improve cardiac function while receiving anti-anemia therapy treatment, oral ferrous sulfate tablets(0.3 g/tablet), 1 tablet each time, 3 times a day and(or) 2 times per week subcutaneous erythropoietin 3000 U. The hemoglobin(Hb), red blood cell(RBC) ,hematocrit (HCT), left ventricular ejection fraction (LVEF), fractional shortening (FS), stroke volume (SV) , cardiac output(CO) and E peak and A peak ratio(E/A) were observed before and after treatment. By logistic regression, grade grade Ⅱ , Ⅲ , Ⅳ, the incidence of anaemia were 7.9% (10/126), 19.2% (23/120) and 24.6% (17/69),respectively. Grade Ⅱ compared with grades Ⅲ, Ⅳ, the difference was statistically significant (x2 = 4.08, 3.12, all (3.49 ± 0.17) × 1012/L, (0.36 ± 0.08)%, (48.9 ± 3.11)%, (15.6 ± 1.8)%, (38.9 ± 3.7)%, (4.4 ± 1.6)% and (130.7 ±5.75)g/L, (4.12 ± 0.25) × 1012/L, (0.43 ± 0.02)%, (58.5 ± 2.65)%, (18.0 ± 2.5)%, (49.1 ± 7.7)%, (5.1 ± 1.2)%in the first and second groups, respectively. The difference between the two groups was statistically significant(t =value of Hb, RBC, HCT, LVEF, FS,SV, CO were (102.7 ± 6.93)g/L, (3.41 ± 0.12) × 1012/L, (0.35 ± 0.07)%,(47.5 ± 2.86)%, (16.0 ± 2.4)%, (38.2 ± 7.9)%, (3.7 ± 1.4)%, respectively. Compared with those after treatment,the difference was statistically significant (t = 15.632, 13.325, 5.569, 17.182, 3.186, 2.999, 3.074, all P ＜ 0.05);Ⅳ-level relative risk were 1.62, 3.14(P ＜ 0.05 or ＜ 0.01) . Conclusions Based on the standard treatment with treatment of anemia, cardiac contractile function can be improved.

Objective To analyze the risk factors affecting long-term survival of recipients and renal allografts.Methods From January 1979 to December 2001,the clinical data of 1380 renal allograft recipients were retrospectively analyzed.The clinical and complication data of kidney transplantation were reviewed.Thirteen relative factors were analyzed by SAS statistical software.A Kaplan-Meier rank analysis was used to estimate the 10-year allograft survival rate.Proportional hazards regression analysis (with Cox model) was used to assess and rank the relative risk of potential variable.Results (1) As of Dec.31,2001,utility visiting rate was 93.62％,989 recipients survived over 10 years.The complications were as follows:acute rejection (191 cases),infection (112 cases),liver damage (106 cases).The postoperational 10-year survival rate of recipients and renal allografts was 71.67％ and 62.25％ respectively.(2) CAN,acute rejection,DGF,infection,diabetic mellitus,PRA ＞10％ and HLA mismatch＞3 were the independent risk factors resulting in the reduced survival rate of the renal allografts (P＜0.05).Immunosuppressive regimen with MMF could significantly increase long-term survival rate (P＜ 0.01); (3) The cardiocerebral vascular diseases,liver insufficiency,infection,tumor and diabetic mellitus were independent risk factors for long-term survival (P＜0.01).Conclusion The ideal HLA match is the key step in increasing survival rate; Low dosage of calcineurin inhibitor with MMF and Pred is the ideal regimen of immunosuppressive therapy for long-term survival; active prevention and treatment of cardiocerebral vascular diseases/CAN,infection,diabetic mellitus,and tumor are the main points focused during the follow-up period.

Objective To explore the clinical significance of switch between ciclosporin A (CsA) and tacrolimus (TAC) in the triple immunosuppressive protocol including calcineurin inhibitors (CNI),mycophenolate mofetil (MMF),and prednisone (Pred) after renal transplantation.Methods The data of 148 patients with CNI switch were collected from Jan.2000 to Dec.2010,including 51patients with Tac switching to CsA (group A) and 97 patients with CsA switching to Tac (group B).The clinical indexes were analyzed by paired t-test.Results In group A,the serum creatinine,urea and blood glucose were significantly reduced,and hemoglobin,bilirubin,cholesterol significantly increased as compared with those before switch (P＜0.05).In group B,the serum creatinine and urea began were significantly reduced from 4th and 2nd week respectively after switch (P＜0.05).Platelet counts began significantly dropping from 20th week after switch (P＜0.05).Albumin,globulin and bilirubin were significantly increased from 20th,12th and 36th week respectively after switch (P＜0.05).Blood glucose and cholesterol were significantly decreased from 12th and 3rd week respectively after switch (P＜0.05).The trough concentrations of CNI and MMF AUC kept stable before and after switch.Conclusion The renal function of all patients was improved to varying degrees by CNI switch between CsA and Tac no matter what reason.The switch of immunosuppressive agents has benefits to alleviate adverse reactions.

Objective To study the chemical constituents of the male anthotaxy of Populus tomentosa Carr.Methods The compounds were isolated and purified by ODS,silica gel,Sephadex LH-20 column chromatography and recrystallization.Their struc?tures were identified based on the physiochemical properties and spectroscopic data. The antioxidant capacities of some compounds were assayed by a rapid ABTS method.The antitumor activity was tested by the MTT assay.Results Fourteen compounds were isolat?ed from the ethyl acetate part of 70% ethanol extract of the male anthotaxy of P.tomentosa Carr.,and they were identified as pinocem?brin(1),dillenetin(2),chrysoeriol(3),naringenin(4),isosakuranetin(5),apigenin(6),kaempferol(7),apigenin-7-O-β-D(-6″-p-coumaroyl)-glucoside(8),tremuloidine(9),catechol(10),3,3′,4,4′-tetrahydroxybiphenyl(11),coumaric acid(12),ursolic acid (13),and betulonic acid(14),respectively. The results of the ABTS assay showed that 2,6 and 7 could scavenge ABTS+free radicals with the total antioxidant capacity of 0.61,0.14,0.46 respectively.The screening results of antitumor activity in vitro showed that the half inhibitory concentration(IC50)of compounds 1,4 and 5 for adenocarcinomic human alveolar basal epithelial cells A549 was 26.04 mg/L,43.45 mg/L and 24.01 mg/L,for human hepatocellular liver carcinoma cells HepG2 were 13.50 μg/ml,23.80 μg/ml and 9.13 μg/ml,and for human colon carcinoma cells HCT116 was 36.11 mg/L,48.95 mg/L and 32.25 mg/L.Conclusion Compounds 2,3,11,13 and 14 were isolated from the Populus genus for the first time,2-5,10,11 and 13-15 were isolated from the plant for the first time.Compounds 2,6 and 7 displayed the antioxidant activity to a certain extent.Compouds 1,4 and 5 showed varying de?grees of inhibitory effects on tumor cells in vitro.