OBJECTIVETo explore the clinical value of the neonatal hearing combined with deafness gene screening.METHODSFrom February 2014 to August 2015, 1933 newborns were included in the study. We analyzed the effects of combined screening of hearing and deafness gene.RESULTSAmong all the 1933 neonates, 71.34% (1379/1933) passed and 28.66% (554/1933) failed the initial hearing screening.The hearing impairment rate was 4.14‰ (8/1933). Genetic screening mutation rate was counted. GJB2 mutation rate was 28.97‰ (56/1933). SLC26A4 mutation rate was 13.97‰ (27/1933). GJB3 mutation rate was 6.21‰ (12/1933). Mitochondrial 12 S rRNA gene mutation rate was 1.03‰ (2/1933). 1 case of 235 delc homozygous mutation did not pass the initial hearing screening and lost to follow-up rescreening. 2 cases of 12 S rRNA 1555A>G homogeneous mutations passed early hearing screening. 8 cases of auditory handicaps were all normal.CONCLUSIONDeafness gene screening can make up for the deficiencies of the universal newborn hearing screening. Joint use of both of them should complement each other and play the biggest role.

Objective To investigate the diagnostic value and clinical significance of the three-dimensional contrast-enhanced MR angiography (3D-CE-MRA)in the infantile superficial hemangioma.Methods Forty-four children with superficial hemangioma un-derwent conventional and dynamic contrast-enhanced MRI.MRI scanning was started at the time of inj ection,and four dynamic pha-ses of images were acquired continually.Maximum intensity proj ection (MIP)images were reconstructed to show the blood vessels of the lesions in multiple phases.Results Forty-nine infantile superficial hemangiomas were detected by MRI,including a single le-sion in 41 patients and multiple ones in 3.3D-CE-MRA showed 37 lesions in 32 patients,and other 12 lesions were not found in 12 patients.Conclusion The conventional and dynamic contrast-enhanced MRI can reflect the location,number and the range of the su-perficial hemangioma,and show the relationship between the lesion and the surrounding tissues.3D-CE-MRA directly shows the blood supply of the tumors.

Objective To evaluate the differences of α-fetoprotein (AFP), ffeeβ-human chorionic gnnadotropin (HCG) indexes in 3 foreign median databases for antepartum risk screening, and establish the median databases of normal pregnant women in Wenzhou for antepartum screening of AFP, free-β-HCG indexes through the suitable median computational models. Methods The levels of AFP and free β-HCG of 20054 normal pregnant women in Wenzhou were detected by time-resolved fluorometry. The data in this paper were compared with the data of 2T-risk ( 2T), Lifecycle-2. 2 (LC2.2 ) and Lifecycle -3.0 (LC3.0) by double-factor ANOVA. The differences between the data in the paper and the data from Shenyang and Ningbo were analyzed. The median database of Wenzhou pregnant women was established by the suitable regression model, with the stability of nonlinear regression models of the 3 software assessed by model correcting fitting, distribution mean of model fitting logarithmic and standard deviation. Results The levels of AFP and freeβ- hCG reported here were 10% and 16% higher than the data of 2T-risk, 15% and 20% higher than that of LC 2. 2, 6% and 17% higher than that of LC 3.0 respectively. The differences were statistically significant. ( FAFP = 161. 757 ,P < 0. 01 ; Ffree-β-HCG = 58. 261, P < 0.01 ). The levels of AFP and free β- hCG in Wenzhou were 2% higher and 3% lower than that of Shenyang, 1% and 2% higher than that of Ningbo. There was no statistical difference of AFP levels among Wenzhou , Shenyang and Ningbo( FAFP = 0. 174 ,P =0. 840) while the differences of free-β-hCG were statistically significant( F<,free-β-HCG> = 13.303 ,P < 0. 01 ). The differences of quadratic equation regression model, exponent quadratic function regression model and exponent quadru-function regression model of 2T, LC-2. 2 and LC-3.0 were not remarkable. The exponent quadru-function regression model was the best. Conclusions There are significant differences between the data from Wenzhou, Shenyang and Ningbo and the data of T-2 risk, LC-2. 2, LC -3.0. The discrepancy is due to the ethnic and different parameters of regression models. So the model parameters and the median databases are urgently required in China. The differences of large sample size of AFP from Wenzhow, Shengyang and Ningbo are not significant, while the differences of free-β- hCG from Wenzhow, Shengyang and Ningbo is remained because of its instability. The levels from Wenzhow and Ningbo are near. It is suggested that the laboratories with small sample size can establish their own laboratory parameters using the reference obtained from large sample size under the same experimental conditions. There are no significant differences of stability among regression computational models in the 3 software. The exponent quadru-function regression model can be used to establish the median databases for the screening with the similar data distribution in the paper.

Objective To investigate the efficacy of regional lymphadenectomy for patients with T2 gallbladder cancer. Methods From January 1990 to December 2009, 48 patients with T2 gallbladder cancer received regional lymphadenectomy following radical surgery at the Xinhua Hospital of Shanghai Jiaotong University, and their clinical data were retrospectively analyzed. Patients were divided into two groups according to the range of lymphadenectomy. Standard group (23 patients): lymph nodes in the regions of bile duct, common bile duct and hepatoduodenal ligament were dissected; extended group (25 patients): lymph nodes in the regions of hepatoduodenal ligament, head of pancreas, duodenum, portal vein, common hepatic artery and celiac axis were dissected).The condition of patients in the two groups were compared after the treatment. The morbidity and survival rate were analyzed by using Fisher exact test and Kaplan-Meier method, respectively, and the survival rates between the two groups were compared by using Log-rank test. Results No perioperative death was found in the two groups. The morbidities was 17% (4/23) in the standard group and 24% (6/25) in the extended group, with no significant difference between the two groups ( P ＞ 0.05 ). The 5-year cumulative survival rate and median survival time were 40% and 29.8 months in the standard group, and 66% and 53.2 months in the extended group, with significant differences between the two groups ( x2 = 4. 687, P ＜ 0.05 ). Conclusion Extended regional lymphadenectomy should be performed on patients with T2 gallbladder cancer if the primary lesions can be dissected radically.

Objective To discuss the value of different staging systems for gallbladder cancer.Methods The clinical data of 132 patients with gallbladder cancer who had been admitted to Xinhua Hospital from October 1992 to December 2006 were retrospectively analyzed.The clinical stage and postoperative survival of patients in each stage were analyzed by Nevin staging system,staging systems of AJCC 5th and 6th edition.The survivals of patients were analyzed by Kaplan-Meier method and the comparison between groups was analyzed by Log-rank test.Results According to the Nevin staging system,the accumulative survivals of patients with stages Ⅰ,Ⅱ,Ⅲ,Ⅳ or Ⅴ were 80.3%,75.6%,43.2%,16.2% and 6.5%,respectively.The accumulative survivals of patients with stages Ⅰ,Ⅱ or Ⅲ were significantly higherthan those with stages Ⅳ or Ⅴ(χ~2=7.239,6.152,3.992,12.354,13.171,15.084,P＜0.05).According to the AJCC 5th edition staging system,the accumulative survivals of patients with stagesⅠ,Ⅱ,Ⅲ or Ⅳ were 71.4%,40.9%,10.2% and 5.8%,respectively.The accumulative survivals of patients with stages Ⅰ or Ⅱ were significantly higher than those with stages Ⅲ or Ⅳ (χ~2=18.286,23.729,5.541,13.607,P＜0.05),and the survivals of patients with stage Ⅲ were significantly higher than those with stage Ⅳ (χ~2=7.758,P＜0.05).According to the AJCC 6th edition staging system,the accumulative survivals of patients with stages Ⅰ,Ⅱ,Ⅲ or Ⅳ were 51.1%,11.7%,8.2% and 6.5%,respectively.Patients with stages Ⅰ or Ⅱ had a comparatively low survival,while the survivals of patients with stage Ⅰ were significantly higher than those with stages Ⅱ,Ⅲ or Ⅳ(χ~2=15.300,21.956,31.397,P＜0.05).Patients with stage Ⅱ had a higher survival than those with stage Ⅳ(χ~2=8.789,P＜0.05).There was no significant difference in survival between patients with stage Ⅱ and Ⅲ,and between patients with stage Ⅲ and Ⅳ.Conclusions The AJCC 5th edition staging system is still the perfect staging system of gallbladder cancer.The Nevin staging system is not integrating enough,while AJCC 6th edition staging system is too strict.

Objective To observe the effect of serum containing Qingluo Tongbi Granula (QTG) on proliferation of fibroblast-like synoviocytes(FLS) and receptor activator of nuclear factor-?B ligand (RANKL) expression in FLS from patients with rheumatoid arthritis.Methods Synovial specimens obtained from the joint of patients were minced into small pieces for the culture of FLS.The morphological features of FLS subcultrued for 3～5 generations were observed under inverted microscope and electron microscope.The effect of QTG-containing serum on the proliferation of FLS was examined by MTT assay.The expression of RANKL in FLS was assessed by RT-PCR.Results After cocultured by serum containing large-dose QTG for 72 hours,proliferation of FLS and expression of RANKL were inhibited.Conclusion QTG can inhibit FLS proliferation,and reduce the expression of RANKL,which may be one of the therapeutic mechanisms of QTG for rheumatoid arthritis.

Objective:To investigate the effect of persimmon leaf extract (PLE) on HEK293-APPswe transgenic cells (20E2).Methods:To determine whether the 20E2 cells model was successfully established,the level of Aβ1-40 in SH-SY5Y was detected and 20E2 cells(HEK293 cells stably expressing Swedish mutant APP)cultured in vivo by ELISA kit,and the expression of APP protein level was detected by Western blot.Cell viability was assayed by CCK-8 method and then selected the best concentration.Set groups:SH-SY5Y as normal control group (NC group),20E2 as model group (20E2 group),treating with PLE as treating group (20E2+PLE group).Reactive oxygen species (ROS) levels of each group were detected with DCFH-DA fluorescent probe.The extracellular level of Aβ1-42 were detected by ELISA kit.Cytoplasmic Nrf2,Nuclear Nri2,Whole-cell HO-1 were detected by Western blot.Results:Compared with model group,the expressions of ROS,Aβ1-42 were down-regulated and the Nuclear Nrf2 and Whole-cell HO-1 were up-regulated in 20E2+PLE group.Conclusion:PLE can reduce the level of oxidative stress of model group effectively,it possibly reduce the aggregation of Aβ1-42 and prevent oxidizing via activating Nrf2/HO-1 pathway.

Objective To observe any effect of low intensity pulsed ultrasound (LIPUS) on the expression of integrin-focal adhesion kinase (FAK)-mitogen-activated protein kinase (MAPK) mechanochemical transduction pathway-related proteins in the chondrocytes of rabbits with knee osteoarthritis (OA).Methods Of the 18 New Zealand white rabbits selected for the study,twelve received knee anterior cruciate ligament transection to model OA.The remaining 6 rabbits served as normal controls.At the 4th week after modeling the rabbits were sacrificed and chondrocytes were isolated and cultured in vitro.All the cultured cells were randomly divided into three groups:a normal control group (NC),an OA model group (OA) and an OA model plus LIPUS group (OA + LIPUS).When the cells had been cultured to the 2nd passage,the NC group and OA group cells had received no treatment.The OA + LIPUS group cells were exposed to 40 mW/cm2 of LIPUS for 20 min,once a day for 6 days.The expression of collagen protein type Ⅱ,aggrecan,MMP-13,integrin β1 p-FAK and p-p38,p-ERK1/2 and p-JNK Mapks were detected by Western blotting.Results Compared with the NC group,the expression of collagen type Ⅱ and aggrecan was significantly lower in the OA and OA + LIPUS groups,with more significantly lower expression of collagen type Ⅱ and aggrecan in the OA group than in the OA + LIPUS group.Compared with the NC group,the expression of MMP-13 was significantly higher in the OA and OA + LIPUS groups,with a significantly larger increase in the OA group.Compared with the NC group,the expression of integrin β1 and p-FAK was also significantly higher in the OA and OA + LIPUS groups,with a significantly larger increase in the OA + LIPUS group.Compared with the NC group,the expression of p-p38,p-ERK1/2 and p-JNK was also significantly higher in the OA group,but compared with the OA group,the expression of those kinases was,on average,significantly lower in the OA + LIPUS group.Conclusions LIPUS can inhibit the degradation of collagen type Ⅱ and aggrecan,and inhibit the expression of MMP-13,p-p38,p-ERK1/2 and p-JNK in OA chondrocytes,at least in vitro.At the same time,LIPUS can increase the expression of integrin β1 and p-FAK.The results show that LIPUS may activate an integrin-FAK-MAPK mechanochemical transduction pathway to induce changes in the extracellular matrix of chondrocytes.

Objective To investigate the awareness of osteoporosis and to evaluate the effect of related health education among Beijing community residents.Methods Total 1 000 patients,who visited in 4 community health service centers in Beijing from June to December 2011,were selected as study participants.The questionnaire survey on the awareness of osteoporosis was conducted in all participants,and the items of questionnaire included the risk factors,symptoms,prevalence of osteoporosis,the recommended daily calcium intake and risk of falls.Five hundred participants in 2 health service centers were designated as intervention group and 500 in another health service centers as control group.In intervention group the health education of osteoporosis was conducted every 2 to 3 months and the outpatient follow-up was provided every 2 months;the contents of health education included the clinical manifestation,prevention and control of osteoporosis,and the preveution of fall.In control group only the general outpatient consultation and referral were provided.The second questionnaire survey was conducted 2 years after intervention,the results were compared with baseline and the intervention effect was evaluated.Results Before intervention,58.0％ (580/1 000) participants had exercise,43.1％ (431/1 000) participants took calcium supplement and vitamin D,and 12.1％ (121/1 000)took medication following doctor's advance.The rates of fall prevention and administration of calcium vitamin D in intervention group before intervention [27.8％ (139/500) and 38.7％ (194/500)] were lower than those in control group [33.8％ (308/500) and 47.5％ (237/500)].After two-years of intervention the adoption rate of health behavior in intervention group was improved markedly,the highest one was diet control [increased by 38.4％ (192/500)] and the lowest one was medication [increased by 17.3％ (87/500)].Compared to control group the diet control rate in intervention group was significantly higher [74.0％ (370/500) vs.23.6％ (108/457),x2 =261.887,P=0.000].In addition,unhealthy behaviors were also reduced:55.0％ participants reduced caffeine consumption and 72.2％ participants reduced sodium intake in intervention group.Conclusion The awareness of osteoporosis among Beijing community residents is not satisfactory,but intervention focusing on osteoporosis prevention education is effective to change their behavior.

Objective: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. Methods: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. Results: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. Conclusion A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.