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 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 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 study the influence of sole massage on children’s analepsia from general anesthesia.Methods One hundred children in analepsia period were divided into the test group(50 cases)and the control group(50 cases).The routine nursing and monitoring during recovery stage were done in the control group.Based on the routine monitoring and nursing care as in the control group,the test group received sole massage for 10 minutes.The two groups were compared in terms of declining percentage of SpO2, rate of nausea,blood pressure,heart-rate variability,and post-analepsia dysphoria scores.Result The test group was significantly lower than the control one in all the indexes of the declining percentage of SpO2,rate of nausea,blood pressure,heart-rate variability,and post-analepsia dysphoria scores(all P<0.05).Conclusions Sole massage during children’s analepsia from general anesthesia is effective not only in lessening their declining percentage of SpO2,rate of nausea,blood pressure,heart-rate variability, and recovery dysphoria mark,but also easing their dysphoria,anxiety and fear.It may create a good condition for children to live through analepsia period successfully and safely.

AIM: To explore the effect of Bu Shen Yang Xue Ming Mu (BSYXMM) Formula on hydroquinone-induced oxidative stress injury in ARPE-19 cells.METHODS: The oxidative injury model of ARPE-19 cell was induced by exposure to various concentrations of hydroquinone (HQ) to determine the optimal concentration.Intestinal absorption solutions of BSYXMM Formula were prepared.Effect of intestinal absorption solutions of BSYXMM Formula on the cell viability was detected by CCK-8 assay,and the percentage of apoptotic cells was measured by TUNEL assay.The levels of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) in ARPE-19 cells were detected by means of chemical colorimetry.RESULTS: It was found that ARPE-19 cell viability significantly decreased when the concentration of HQ was higher than 90μmol/L.Compared with the model group,1% and 2% intestinal absorption solutions in the pre-treatment group could significantly alleviate HQ-induced injury (P<0.01) and 0.5% and 5% intestinal absorption solutions in the pre-treatment group could alleviate the injury in certain degree(P<0.05).While in the treatment group 1% and 2% intestinal absorption solutions could alleviate the injury to some extent (P<0.05).TUNEL results showed that the apoptosis rate decreased significantly in the pre-treatment group (P<0.01)and to some extent in the treatment group (P<0.05)compared with the model group.It was shown that both levels of SOD and GSH-Px in pre-treatment group and treatment group were markedly higher than that of model group(P<0.05),and pre-treatment group had more significant effect (P<0.01,P<0.05).CONCLUSION: BSYXMM Formula could protect against HQ-induced oxidative stress injury in ARPE-19 cells,which may be related with the increasing of antioxidant enzyme in the cells.

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 observe the effect and influence on plasma angiotensin Ⅱ and oxygen radicals in the treatment of children with viral myocarditis by phosphate sodium and captopril,provide reference for clinical treat-ment.Methods 80 children with viral myocarditis met the admissions criteria were randomly divided into the obser-vation group(40 cases)and the control group (40 cases),both group were received conventional therapy,which included rest,vitamin C pin,antiviral and antimicrobial agents,nutritional medicine myocardial metabolism of drugs. The control group was given captopril 0.5mg/kg,bid,the observation group was given phosphate sodium and capto-pril,phosphate sodium 0.5 -1g/d,qd,both groups had been treated for 4 weeks for a course.Plasma angiotensin Ⅱwere detected by radioimmunoassay.The EF,FS,VA /TE were detected by echocardiography instrument.The blood were collected for detecing MDA and SOD.The clinical efficacy and electrocardiogram efficacy were evaluated. Results The clinical efficacy and electrocardiogram efficacy of observation group were 95%,90%,the control group were 70%,70%,and the difference was statistically significant(χ2 =9.367,8.571,both P <0.05).The EF,FS,SOD of the observation group and the control group after treatment was significantly higher than those of before treatment (t =11.689,8.447,9.524 and 7.714,7.985,6.166,all P <0.01).The plasma angiotensin Ⅱ,VA /TE,MDA were significantly lower than those of before treatment(t =17.572,5.772,9.744 and 9.228,3.553,3.855,all P <0.05). The SOD of the observation group after treatment was significantly higher than that of the control group(t =3.932, P <0.05),VA /TE,MDA were significantly lower than that of the control group(t =3.446,3.633,10.315,all P <0.05).Conclusion The method containing phosphate sodium and captopril can collaboratively improve heart func-tion,which may be relate to the decrease in plasma angiotensin Ⅱ and scavenging oxygen free radicals.The method can significantly improve the clinical efficacy and ECG efficacy of conventional therapies,is the better treatment for promoting in the treatment of children with viral myocarditis.

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 .

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.