[Summary] With the improvement of current medical diagnosis and treatment technology, more and more patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism have been diagnosed. DAX-1 gene mutation has been accounted for one of the most important reasons. Clinical manifestations include adrenocortical hypofunction such as loss of salt, dehydration, nausea and vomiting, as well as gonad dysplasia of male patients in puberty. The disease can be diagnosed by blood biochemical and hormonal level testings, imaging tests and gene sequencing. Patients can be treated by glucocorticoid, mineralocorticoid, and male sex hormone. The review will expand the diagnosis and treatment of adrenal hypoplasia congenita with hypogonadotropic hypogonadism caused by DAX-1 gene mutation.

Mass spectrometry has become a powerful technique for proteomics analysis. It would be highly desirable to obtain exact quantitative values of each protein in a system, and these dynamic protein data obtained from cell can provide important information to study protein function, reveal the biological process and discover protein biomarker and drug target. Here, we report the development of quantitative mass spectrometry-based proteomics on strategy, method and application in recent years and further it is addressed for their characteristics and potentialities in protein analysis.

Objective To investigate the genotypic characteristics of hepatitis B virus(HBV) in Tibet.Methods Serum samples from 60 cases of hepatitis B in Tibet Autonomous Region were collected from January 2000 to March 2004.HBV genotypes were analyzed by sequencing S region and precore/core region.Results HBV isolated from 60 cases were all found to be D genotype by S region sequencing.Dc mixture was found in 59 cases,showing the recombination between their precore/core gene and genotype B virus at 1804-2299 nucleotide.The other one case showed Dbc mixture genotype,showing recombination between its precore/core gene and genotype B and C genes.Conclusions All Tibet cases in this study show mixture genotype D with recombination with genotvpe C or both genotype B and C at precore/core region.No case of pure genotype D is found.

Objective To investigate the role of heat shock protein 70 (HSP70) in liver flbrosis in infants with biliary atresia (BA) and its impact on prognosis. Methods Fourty-six (46) cases of infants with BA undergoing elective Kasai surgery were selected. In the same period, 30 cases of children with choledochal cyst and 17 cases of children with portal vein cavernous transformation were selected. The expressions of HSP70 in liver tissues were detected using immunohistochemical staining. The liver flbrosis in children with BA was detected using Sirius red-saturated picric acid staining. The expressions of HSP70 proteins in different flbrotic liver tissues were detected by using double staining. All postoperative BA infants were followed up and ended at June 30, 2016.Results The proportion of high expression of HSP 70 proteins in BA infants were signiflcantly higher than that in children with choledochal cyst and vein cavernous transformation (P<0.05). Rank correlation analysis showed that the expressions of HSP70 in liver tissues were positively correlated with the degree of liver flbrosis (r=0.861,P<0.05). 15 patients died among 46 cases of BA infants. The survival rate in BA children with mild liver flbrosis was 82.4%, which was signiflcantly higher than 58.6% in the severe group (P<0.05). The survival rate in HSP70 protein low expression group was 85.0%, while in HSP70 protein high expression group was 53.8%. Kaplan-meier survival analysis showed that the median survival time in the HSP70 protein low expression group was (34.0±2.6) months, while in the HSP70 protein high expression group was (18.3±2.2) months, the difference was statistically signiflcant (χx2=4.765,P=0.029).Conclusions The expressions of HSP70 proteins in liver tissues in infants with BA were high and were positively correlated with the degree of hepatic flbrosis. It suggested the possible involvement of HSP70 in the process of liver fibrosis. The upregulated expressions of HSP70 often indicated poor prognosis in children. It could be used as determining biomarker for prognosis.

Aim Toevaluatethesynergisticeffectof anti-tumor by the pterostilbene and acetylshikonin act-ing on B16F10 cells and investigate the interrelated mechanisms.Methods Theresearchscreenedandan-alyzed the target-related of pterostilbene and ace-tylshikonin by system-pharmacological methods. The proliferative inhibition rate of B16F10 cells were meas-ured by MTT.The apoptosis in B16F10 cells were proved by both cellular morphological and biochemical methods.The expression of apoptotic genes were as-sessed via RT-PCR.The apoptotic rate and cell cycle were measured by flow cytometry.Melanoma models were established in C57BL/6 mice,and the inhibitory rateoftumorgrowthwasmeasured.Results The14 targets of pterostilbene were closely related to cell cy-cle,acetylshikonin′s 12 targets displayed a relationship with apoptosis,and correlated with p53 signaling path-way.Pterostilbene along with acetylshikonin signifi-cantly inhibited cell proliferation of B16F10 cells in a dose-dependent way and resulted a remarkable syner-gistic effect.The apoptotic rate reached highest with a blocked-cell cycle at G1 phase in the co-treatment group.The RT-PCR results showed that the expres-sions of p53,Bax and p21 were up-regulated and the expressions of Bcl-2,CDK2 and Cyclin E were down-regulated with time.The changes of p53,Bax and Bcl-2 were obvious in combined treated group.All treat-ments in vivo showed different tumor inhibition rates while co-treatment group showed highest.Conclusion Pterostilbenecooperatedwithacetylshikonininhibits the proliferation in B16F10 cells,and activates the p53 signaling pathway to induce the B16F10 cells apoptosis and a cell cycle arrest.

Objective To investigate the application of 3D printing technique in the treatment of obsolete pelvic and acetabular fractures.Methods The clinical data of 23 patients with obsolete pelvic and acetabular fractures were retrospectively analyzed who had been surgically treated in our hospital from January 2006 through January 2016.3D printing technique was used in surgical planning in 11 of them,including 8 males and 3 females,with an average age of 33.8 ±4.9 years (3D group).The other 12 patients received conventional surgery without using 3D printing technique.They were 9 males and 3 females,with an average age of 34.8 ± 8.3 years (conventional group).The primary pelvic fractures in both groups were all type C according to the Tile classification system.The patients complicated with acetabular fracture in the 3D group and the conventional group were 10 and 11 cases respectively.The operative time,blood loss,blood transfusion.intraoperative fluoroscopy,visual analogue score (VAS) and Majeed score were compared between the 2 groups.Results The 2 groups were compatible in terms of preoperative general data (P ＞ 0.05).For the 3D group and the conventional group,operative time was 166.4± 24.2 min versus 222.5 ± 49.0 min.blood loss 2,063.6 ± 484.3 mL versus 2,700.0 ± 597.0 mL,blood transfusion 13.2 ± 3.2 U versus 17.6 ± 4.5 U,and intraoperative fluoroscopy 7.4 ± 1.3 times versus 11.7 ± 3.6 times.There were significant differences between the 2 groups in the above indexes (P ＜ 0.05).The 3D group and the conventional group obtained an average follow-up of 18.4 months and 21.7 months,respectively.The postoperative VAS scores were respectively 1.8 ±-0.9 points and 3.4 ± 1.0 points for the 2 groups,showing a significant between-group difference (P ＜0.05).The Majeed scores at the last follow-ups were respectively 85.7 ± 4.2 points and 84.9 ± 3.1 points for the 2 groups,showing no significant between-group difference (P ＞ 0.05).There were no such complications in the 3D group as iatrogenic nerve injury,vascular injury,nonunion or internal fixation failure.One patient in the conventional group suffered transient iatrogenic injury to the sciatic nerve.Conclusions 3D printing technique can provide helpful guidance for diagnosis and fracture classification preoperatively.It improves the patient's perioperative safety by benefiting intraoperative reduction,shortening operative time,and reducing intraoperative blood loss and intraoperative fluoroscopy.

Objective: To investigate the stamina,the role of antioxidant system in severe acute pancreatitis(SAP),and the effect of fish oil treatment in rats.Methods:Thirty-six male Sprague-Dawley rats(SD) were randomly divided into three groups,including SAP group(sodium chloride treatment ) (group NSG,n=12),fish oil treatment group (group FOG,n=12),and control group (group CG,n=12).SAP was induced by intergraded injection of 3.5% sodium tanrocholate to biliopancreatic duct of SD rats in group NSG and FOG.The group NSG rats were treated by subcutaneous injection of sodium chloride,while the group FOG rats were treated by subcutaneous injection of fish oil for 7 days.Then the improved tail suspension test was observed at the first,third,fifth,seventh day.12 rats in each group were respectively sacrificed after 7 day.The activity of serum antioxidant enzymes (MDA,GSH-PH) and the concentration of serum amylase were measured in each group,and the levels of threshold on the area and the total immobility time were measured in each group.The severity of pancreatitis was analyzed according to the histopathological morphology.Results: Compared to group NSG,the severity of pancreatitis was significantly decreased in group FOG.The activity of MDA was significantly increased in group NSG than that in group CG (P<0.01) ,while the activity of MDA in group FOG was decreased than that in group NSG (P<0.05) .The activity of GSH-PH was significantly decreased in group NSG than that in group CG(P<0.01),while the activity of GSH-PH was increased in group GOG than that in group NSG (P<0.05).THE level of threshold on the area was decreased in group NSG than that in group CG(P<0.01),while the level of threshold on the area was increased in group GOG than that in group NSG.(P<0.01) The total immobility time was significantly increased in group NSG than that in group CG(P<0.01),while the total immobility time was decreased in group GOG than that in group NSG(P<0.05).MDA was associated with the level of threshold on the area and the total immobility time.Conclusion: Fish oil has a positive effect on the activity of antioxidant system and behavior character in SAP rats.

Objective To analyze the survival rate of HIV /AIDS patients receiving highly active antiretroviral therapy(HAART)since the implementation of the national Four Free and One Carepolicy against HIV in Hangzhou.Methods Clinical data of 2370 AIDS patients were collected from National AIDS Comprehensive Treatment Information System Treatment Library from 2004 to 2014.The data, including basic information,viral load,CD4 +T lymphocyte counts,starting time of treatment,WHO clinical stage,infection pathways and follow-up were respectively analyzed.Kaplan-Meier and Cox proportional hazards models were used to analyze the survival rate and the factors affecting survival.Results The total follow-up time was 3968.14 person years and 57 patients died in 2370 patients with a mortality rate of 1 .44 /100 person years (57 /3968.14).Kaplan-Meier method showed that the cumulative survival rates of the first,third and fifth year were 98.08%,96.20% and 95.24%,respectively.The overall mortality rate fell from 6.06 /100 person years in 2006 to 1 .44 /100 person years in 2014.The mortality rate of AIDS-related disease declined from 1 .10 /100 person years in 2009 to 0.90 /100 person years in 2014.Multivariate Cox regression analysis showed that the risk of death for patients with CD4 +T 200-349 cells/μL was 0.466 times(95%CI 0.246-0.882)as that for patients with CD4 +T cells <200 /μL.The risk of death was 3.408 times(95%CI 1 .365-8.506)in patients aged≥ 50 years,3.788 times(95%CI 1 .645-8.718)in patients aged 40 to <50 years,and 2.593 times(95%CI 1 .139-5.905)in patients aged 30 to 40 years as that in patients aged <30 years.The mortality risk for patients with baseline WHO stage Ⅲ and Ⅳ was 1 .960 times as patients with WHO stage Ⅰ and Ⅱ (95% CI 1 .117-3.439 ).Conclusions Patients with increased age,low CD4 +T counts and baseline WHO stage Ⅲ or Ⅳ are main risk factors affecting survival rate of HIV /AIDS patients,early antiviral therapy is the key for improving the survival rate of patients.

Objective To investigate the effete of chitosan on rabbit carotid artery internal jugular vein fistula intimal hyperplasia and its regulation on TLR4/NF-κB signaling.Methods A total of 28 New Zealand white rabbits were randomly divided into the control group(n=4),the model group(n=12) and the chitosan group(n=12).Model group and chitosan group rabbits were established respectively carotid artery internal jugular vein fistula models.After AVF surgery,chitosan was smeared on venous blood vessels and anastomosis.After 4,6 and 8 weeks,the rabbits were separately sacrificed and the AVF venous vascular tissues were taken.The pathological changes of AVF venous vascular tissue in each group were observed.The changes of α-SMA were detected by immunohistochemistry method.The mRNA expressions of PCNA and TLR4 in the tissues were measured by Real-time PCR.At the same time,the protein expressions of PCNA,TLR4,MyD88 and NF-κB were detected by Western blotting.The experimental data were processed by two-factor analysis of variance in statistics.Results (1) After 4 weeks,vascular intimal was thicked in mdel group.In intimal hyperplasia,α-SMA was staining,and then proliferation of vascular smooth muscle cell was significant.As time increasing,more intimal hyperplasia shown obviously,the expression of α-SMA significantly increased.Compared with model group,chitosan group significantly reduced the degree of intimal hyperplasia,the level of α-SMA was significantly decreased,vascular smooth muscle cell proliferation was also extraordinarily decreased.(2) Compared with control group,the expression levels of PCNA,TLR4,MyD88 and NF-κB increased with time.The indices of Chitosan group were markedly higher than control group,but significantly lower than model groups.Conclusion Chitosan can inhibit the proliferation of rabbit VSMCs.The mechanism may be concerned in down regulating TLR4-mediated signaling pathway,reducing the possibility of intimal hyperplasia of rabbit AVF venous blood vessels.