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.

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 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.

Objective To guide fluid management for sever heart failure patients by using PICCO indicators, in order to direct clinical fluid management and nursing care. Methods Sixty-four heart failure patients with level IV cardiac function were randomly divided into the control group and the experimental group according to random number table, and each one had 32 patients. Fluid management for patients in the control group was implemented with CVP monitoring technology, while the patients in the experimental group accepted PICCO monitoring technology as fluid management. Then compare these indicators between the two groups--length of stay in ICU, mortality rate of 28 days, daily fluid intake, output and time of achieving negative fluid balance, and observe the change of cardiac function index (CFI) and capacity indicators (ITBVI, GEDVI, EVLWI) in the experiment group before and after treatment. Results Indicators of ITBVI、GEDVI、EVLWI in the experiment group recovered to normal state and CFI improved. The indicators which had mentioned above was (1 203.41±111.08) ml/m2, (1 087.78±66.91) ml/m2, (12.91±3.54) ml/kg, (2.91±0.29) L·min-1·m-2 respectively when before the treatment, while the values after the treatment was (895.50 ± 50.27) ml/m2, (728.19 ± 73.33) ml/m2, (6.51 ± 0.75) ml/kg, (4.61 ± 0.69) L · min-1 · m-2, the difference was significant (t=-18.52-54.42, P<0.05). The length of stay in ICU, mortality rate of 28 days, daily fluid intake, output and time of achieving negative fluid balance of the experimental group were significantly lower than those in the control group(t=-17.19,-76.80,-12.38, χ2=3.26, P<0.05). Conclusions PICCO monitoring indicators are better than CVP method in the aspect of fluid management for patients with sever heart failure, which can increase the rescue success rate, promote the treatment effect, improve prognosis, and promote the rehabilitation of patients.