Objective To identify the genetic mutation of the gene FOXL2 in a big Chinese family with 4 generations,8 patients and 11 health members which have blepharophimosis-ptosis-epicanthus-inversus syndrome(BPES) type Ⅰassociated with ovarian dysfunction,and demonstrate the correlation between clinical phenotype and genotype.Methods The peripheral blood samples,with 5ml EDTA as decoagulant,from 8 patients and 11 health people in a big Chinese family affected with BPES typeⅠwere collected.The genomic DNA from peripheral blood leukocytes was extracted.7 pairs of primers were designed by the Oligo6 according to the sequence of the FOXL2 gene(GenBank ID AF301906).The exons and the putative core promoter of the FOXL2 gene were amplified using polymerase chain reaction(PCR),and mutation was analyzed by sequencing DNA fragments.Results A novel nonsense mutation at nucleotides in the FOXL2 gene was found in the eight affected patients of the big Chinese family with BPES typeⅠ.No mutation was found in any of the health members in the big Chinese family.Conclusion This is the first reported mutation of the FOXL2 gene in a big Chinese family with BPES typeⅠ.This nonsense mutation in the FOXL2 gene may be an important pathogenesis for the BPES typeⅠin this big Chinese family.It is the first time that a novel nonsense mutation in the FOXL2 gene has ever been found to demonstrate a close correlation between genotype and BPES typeⅠ.

Objective To investigate the effect of external treatment with traditional Chinese medicine on cervical spondylotic radiculopathy(CSR)and summarize nursing key points. Methods One hundred and twenty CSR patients with cervical shoulder pain and upper limb radioactive pain were randomly divided into the treatment group and control group in equal number.The treatment group were managed with external treatment with traditional Chinese medicine and the control group with conventional treatments. The curative effects were compared between the two groups 15 d after treatment. Results The treatment group achieved significantly better curative effect than the control group(P<0.05). Conclusion The external treatment with traditional Chinese medicine may effectively relieve cervical shoulder pains and radioactive pains in upper limbs induced by cervical spondylotic radiculopathy.

Objective To evaluate the efficacy of ventricle septal defect(VSD) occluder through lower ministernotomy for patients with perimembranous VSD. Methods From January 2007 to August 2008,41 patients with perimembranous VSD(14 male,27 female,weighed 9.0 to 71 kg with a mean of 46.3?16.1) underwent a closure of perimembranous VSD through lower ministernotomy using Amplatzer occluder.Before the operation,all the cases had been confirmed as having a 3-to 8.5-cm perimembranous VSD by transthoracic echocardiography(TTE).Under general anaesthesia,a small incision was made at the lower sternum to expose the right ventricle,and then occluder was placed in the right ventricle.TEE,electrocardiography and chest X-ray were performed before discharge and 1 month after the operation.Results The procedure was completed successfully in all the patients with a mean operation time of(6.2?3.3) hours(ranged from 2.5 to 17 hours).The ICU stay was(15.1?4.3) in average(8-21 hours).The mean drainage volume after the surgery was(80?33) ml(35-210 ml).Follow-up was available in all the cases for(7.9?4.1) months(range,3-15 months).During the period,no A-V block,new AI,occluder displacement,embolization,tricuspid incompetence or residual occurred. Conclusions VSD occluder is feasible and safe for closure of perimembranous ventricular septal defects through lower ministernotomy.

Objective To prepare a high‐titer rabbit specific serum antibody against Kaposi′s sarcoma associated herpesvirus (KSHV) ORF65 capsid protein and identify the specificity of serum antibody .Methods Artificial synthetic peptide of ORF65 pro‐tein was emulsified with Freund adjuvant .4 rabbits were immunized with the prepared antigen by subcutaneous injection at various sites of skin of back and jaw once every two weeks .Immunization was carried out in total 4 times .The serum of the immunized rab‐bits was collected at a week after the last immunization .The titer of rabbit anti‐serum was assayed by ELISA .Specificity of the rab‐bit anti‐serum was analyzed by immunofluorescence assay and Western blot .Results The immunized rabbits produced high‐titer se‐rum antibody after total immunization .The highest titer of anti‐serum against ORF65 protein peptide was 1∶12 800 .The results of Immunofluorescence assay showed that antibody was binded in plasma of BCBL‐1 cell mostly ,which was consistent with the expres‐sion location of ORF65 in BCBL‐1 cell .Subsequently ,the data of Western blot revealed a specific band about 21 kD which accorded with the size of ORF65 protein .Meanwhile ,the expression of ORF65 in TPA treated BCBL‐1 cells was higher than the control cells ,which was consistent with the expression characteristics of lytic protein .Conclusion High‐titer specific rabbit serum antibody against KSHV capsid ORF65 antigen could be successfully prepared by rabbits immunization with ORF65 protein peptide .The pre‐pared antibody could be revealed immune reaction specificity with KSHV ORF65 protein .

Objective To evaluate the effect of fingolimod(FTY720) on angiotensin Ⅱ(AngⅡ)-induced renal oxidative stress in rats and its possible mechanisms.Methods Thirty-six male Sprague-Dawley rats were divided into three groups through random number tables:AngⅡ infusion group(twelve rats,infusion of AngⅡvia subcutaneous osmotic pumps),0.9% sodium hydrochloride solution infusion group(twelve rats,infusion of equal volume of 0.9% sodium hydrochloride solution via subcutaneous osmotic pumps) and FTY720 intervention group(twelve rats,intra-gastric administration of FTY720 besides AngⅡ infusion).Urine samples were collected for 24 hours every week.Blood samples and kidneys were collected when rats were sacrificed at day 14 and 28 d respectively.MDA and T-SOD assay Kits were used to detect the concentrations of MDA and T-SOD in serum and kidney homogenates.Renal pathological changes were observed by light microscope.The expression of Nox4 in the kidneys was evaluated by immunohistochemistry.Results Compared with 0.9% sodium hydrochloride solution infusion rats of the same period,AngⅡ-infused rats developed significant proteinuria.The concentration of serum creatinine,urea nitrogen,AngⅡ and MDA were increased(P<0.05),T-SOD was significantly decreased on days 14 and 28(P<0.05),the serum albumin was significantly increased on day 28(P<0.05),while FTY720 partially reversed these changes.The renal tissue of AngⅡ-infused rats presented mesangial cells proliferation,mesangial matrix deposition,tubular epithelial cells effacement,sclerosis and atrophy in part of the glomerular.FTY720 can alleviate these changes.Immunohistochemistry showed that Nox4 was primarily located in the distal tubule.The expression of Nox4 was significantly increased in AngⅡ-infused rats as compared with that of 0.9% sodium hydrochloride solution infused group rats,and FTY720 administration prevented the change effectively.Conclusion AngⅡ-induced renal injury could be attenuated by FTY720 via preventing oxidative stress.

Objective To evaluate the safety and efficacy of endoscopic implantation of self-expandable metallic stent (SEMs) for malignant colorectal obstruction. Methods A total of 108 patients who had undergone endoscopic SEMs implantation for malignant colonic obstruction from January 2011 to May 2014 were enrolled. The clinical suc-cess rates and the complications were reviewed. Results The clinical success rates were 92.59%(100/108). Abdomi-nal pain, perforation and bleeding were the most common post-procedure complications, the rates of which were 16.67% (18/108), 7.41% (8/108), 6.48% (7/108), respectively. The abdominal pain in most patients was self-reliev-ing except for 6 patients with perforation of colon. Patients with perforation were cured by emergency surgery. The 7 patients developing bleeding recovered themselves. Conclusion The success rate of endoscopic SEMs implantation is satisfactory in the study. As a bridge to surgery or a palliative care method, endoscopic SEMs implantation is effec-tive and safe for malignant colorectal obstruction.

Objective To investigate the antibacterial activity of combined antimicrobial agents for imipenem-resistant Acinetobacter baumannii in vitro,so as to provide evidence for guiding clinical practice.Methods Twenty-seven isolates of irnipenem resistant Acinetobacter baumannii were collected from March,2007 to February.2008.The minimal inhibitory concentrations(MIC)of the isolates against eleven frequently used antibiotics were determined by E test and agar dilution.Combined drug sensitivity testing was performed by broth checkerboard titration assay.Synergism between minocycline and cefoperazone-sulbaetam was analyzed by time-killing curve.Results The results from checkerboard titration assay and time-kill studies showed that the synergy rates between minocycline and cefperazone-sulbactam,minocycline and amikacin,minocycline and ciprofloxacin were 74.1%,28.0%and 48.1%,respectively.The synergy rates between amikacin and cefoperazone-sulbactam,anaikacin and ciprofloxaein were 23.1%and 37.0%,respectively.The synergy rate between cefoperazone-sulbactam and ciprofloxacin was 7.1%.With combination therapy.both MICs of cefoperazone-sulbactam and MIC of minocyeline decreased to lower than breakpoints.According to time-killing curve,the synergy rate between cefoperazone-sulbactam and minocycline was 100%.Conclusion Minocycline and cefoperazone-sulbaetam can be used for treating infections caused by multidrug resistant Acinetobacter baumannii.

Objective To discuss factors influencing the heterotopic ossifications (HO) after treatment of bi-column acetabular fractures. Methods One hundred and ninety-three cases of bi-column acetabular fractures were followed up, including 147 males and 46 females with an average age of 34. 4 years. Thirty-one cases were associated with craniocerebral trauma. The interval between injury and surgery was less than 1 week in 15 cases, 1 to 2 weeks in 121 cases, 2 to 3 weeks in 34 cases, and over 3 weeks in 23 cases. Factors that might have influenced HO, including surgical method, associated injury, and interval between injury and surgery, were analyzed retrospectively. Results All the cases were followed up for an average of 44. 2 (14 to 84) months. The mean operation time was 238 (150 to 330) minutes, and the average blood loss was 1453 (450 to 4400) mL. The incidence rate of HO was 39. 9% (77 in 193 cases), including 39 cases of degree one, 23 cases of degree two, and 15 cases of degree three. Of the 77 cases associated with HO, 14 had craniocerebral trauma and 63 did not (χ~2 = 0. 019, P = 0. 891) . HO was found in 2 cases that had been operated on in less than 1 week, 38 cases in 1 to 2 weeks, 21 cases in 2 to 3 weeks, and 16 cases in over 3 weeks. The Spearman correlation analysis between HO degree and clinical result showed no correlation ( R = 0. 041, P =0. 722). Only 15 cases (7. 8% ) were associated with HO after the debridement of the necrotic gluteus minimus. Conclusions HO after surgery for bi-column acetabular fractures may not be correlated with craniocerebral trauma, but highly correlated with the interval between injury and surgery. Debridement of necrotic gluteus minimus and other muscles can reduce the incidence of HO.

Objective To explore the expression and significance of hsa-miR-181a (miR-181a) in can-ceration progression of endometrial carcinoma. Methods A total of 75 formalin-fixed paraffin-embedded tissue specimens were studied in this study , of which , 13 were normal endometrium , 18 were endometrial hyperplasia , 44 were endometrial carcinoma. After total RNA had been extracted , real-time PCR was applied to detect the ex-pression level of miR-181a in endometrial tissue in each group. Results miR-181a expression in formalin-fixed paraffin-embedded tissue specimens can be detected. Expression of miR-181a in endometrial carcinoma was high-er than that in endometrial hyperplasia , its expression in endometrial hyperplasia was also higher than that in normal endometrium, and the difference was statistically significant (P < 0.05). The expression of miR-181a in endometrial carcinoma was associated with FIGO stages (P < 0.05). Conclusion The up-regulation of miR-181a expression in women with endometrial carcinoma may play the role of oncogenes. Abnormal expression of miR-181a is probably associated with the occurrence and development of endometrial carcinoma.

Objective In response to the requirements of the new nation health care reform for the first diagnosis sinking .To in‐vestigate hospital as the center ,radiation surrounding ,we build the telemedicine system .Methods We analyzed the requirement ,de‐sign the architecture of the system through the way of TOGAF .Results The telemedicine system including telemedicine ,remote diagnosis and distance education was built .Conclusion The design ,establishment and application of the telemedicine system has an important influence and meaning .