Objective To analyze the relationship between genotype and phenotype of vitelline macular dystrophia (VMD2) gene in a family with Best disease, and to provide the theoretical basis for gene diagnosis of Best disease. Methods Mutation in the coding regions and the promotor sequence of VMD2 gene from 10 members in a family with Best disease were screened by polymerase chain reaction (PCR) and direct DNA sequencing, and combined with a conformation sensitive gel electrophoresis (CSGE) approach, VMD2 gene screening was performed on 100 normal control individuals. Results In the 10 members, T→C nucleotide change at the 223 base of exon 3 was detected in 9, including 6 with Best disease who was confirmed by ophthalmoscopy and electrophysiological examination in whom 2 were affirmed as having homozygote of this mutation. Other 3 young family members with VMD2 gene mutation only had abnormal electro-oculogram manifestations. Above mutation was not detected in the normal control individuals. Conclusions The phenotype and genotype of VMD2 in the family with Best disease is highly correlated. Mutation in VMD2 gene is the nosogenesis in this family. Mutation screening of VMD2 gene can be used for genic diagnosis and genetic consultation of Best disease.

Objective To evaluate the clinical characteristics,efficacy and toxicity of three dimensional conformal radiotherapy(3D-CRT)for elderly patients suffering from advanced stage of non-small cell lung cancer(NSCLC).Methods From September 1999 to October 2006,with the use of Leibinger planning system,the authors performed 3-dimensional conformal radiotherapy(3D-CRT)for 108 elderly patients suffering from advanced stage of non-small cell lung cancer who had not received operation because of medical contraindications such as cardiac insufficiency,impaired pulmonary function,etc.For the patients with positive lymph metastasis,the primary tumor was treated with high dosages.Conventional radiotherapy was delivered,and the tumor site and draining lymphatic areas received 40~45Gy of radiation,followed by 3D-CRT.Results All patients received whole course of radiotherapy,and the total survival rate for 1,2,3 years was 65%,33% and 28%,respectively.Meanwhile,the radioreaction did not exceed grade 2 in all 108 cases.Conclusions 3-dimensional conformal radiotherapy was relatively an effective treatment for non-small cell lung cancer in elderly patients who could not withstand operations because of medical contraindications or other problems.The treatment was proved to improve total survival rate and life quality,relieve complications such as radiation pneumonia and radiation esophagitis.Therefore,3-dimensional conformal radiotherapy was recommended for elderly patients with advanced stage of lnon-small cell lung cancer.

Objective To evaluate the short-term therapeutic effects for patients with primary liver cancer using three-dimensional stereotactic conformal radiotherapy(3D-CRT).Methods Twenty-eight patients with primary hepatic cancer were treated with 3D-CRT(the average overall dose was 38Gy,localized by Elscint twin flash slice CT,radiotherapy plan was designed by Leibinger three-dimensional radiotherapy planning system and operated on Varian 600C/D liner accelerator).The average follow-up time was 12 months(5-17mon.).Tumor volume response rate,rate of free from tumor progression and survival rate were analyzed.The adverse effects were studied simultaneously.Results According to follow-up CT results 3 months after radiotherapy,2 cases had full responses with disappearance of the tumors,while partial responses with decreased tumors mass were seen in 22 cases,and no response in 4 cases.Tumor volume response rate was 85.7%.The last follow-up CT results showed that in 5 patients there was tumor progression in planning target volume(PTV),in 10 cases there was intrahepatic progression but not in PTV,and in 4 cases extrahepatic tumor growth.Intrahepatic tumor free rates 6 months and 12 months after radiotherapy were 66.5% and 38.4%,respectively.6-month survival rate after radiotherapy was 88.6%,12-month survival rate was 70.5% after radiotherapy.During 3 months of radiotherapy,manifestations of subacute radiation injuries occurred in six patients:gastrointestinal hemorrhage in 2 cases,jaundice in 3 cases and subacute radiation hepatitis in 1 patient.No survivors suffered from long-term liver injury.Conclusions With little adverse effect,3D-CRT could raise the control rate of the hepatic tumor,and also short-term survival rate.There fore,3D-CRT is a valuable treatment for patients with primary liver cancer.

Objective To evaluate the therapeutic effects and adverse effects of three-dimensional conformal radiotherapy(3D-CRT) for elderly patients with non-small cell lung cancer(NSCLC).Methods From August 2001 to October 2006,36 patients over 70 years old with NSCLC were treated with 3D-CRT.Leibinger treatment planning system was used for drafting radiotherapy plan,the prescription dose was 40-80Gy(median,60Gy).Twenty-four patients received hypofractionated radiation every two days in 8-12 fractions at a dose of 5-8Gy per fraction;12 patients accepted conventional fractionated radiation with 30-40 fractions during 6 to 7 weeks.With median follow-up time of 11 months(range,5-54 mon.),tumor volume response rate,1-year and 2-year survival rate were investigated,adverse effects of the treatment were also recorded in present research.Results Of the 36 patients,clinical symptoms were improved in 33 cases,while no changes were observed in 3 cases.According to follow-up CT results 2-3 months after radiotherapy,8 patients showed complete response(CR),22 cases with partial response(PR),with the overall tumor response rate of 83.33%(30/36).In this group,1-year and 2-year survival rate was 66.67% and 36.11% with median survival time of 8 months(range,2-53 months).No patients suffered from serious adverse effects.Conclusions 3D-CRT was an effective and safe treatment for elderly patients with NSCLC,which could raise the survival rate and improve the quality of life with little adverse effects.

Objective To evaluate the therapeutic effects of three-dimensional conformal radiotherapy(3D-CRT) for malignant tumors.Methods From July 1999 to October 2006,830 patients with malignant tumors received non-coplanarity multifield 3D-CRT by using Leibinger three-dimensional stereotactic conformal radiotherapy machine,Varian 600C/D 6MeV X liner accelerator and multileaf collimator.Single dose was 4-8Gy per fraction,once every two days and total dose was 50-82Gy.Results All 830 cases underwent 3D-CRT.According to the WHO evaluation standard for therapeutic effects,CT results showed that complete response(CR),partial response(PR),no change(NC),and progression(PD) rates were 20.7%(172/830),68.7%(570/830),10.2%(85/830),and 0.3%(3/830),respectively.Overall response rate(CR+PR) was 89.4%(742/830).No patients suffered from serious adverse effects.The incidence of radiation penumonia was 9%.Conclusions For patients with malignant tumors who could not endure operations due to existing contraindications or other conditions,3D-RCT was a relatively effective treatment because the method could deliver an increased therapeutic dose to tumors,enhance survival rate,improve life quality,decrease injuries to adjacent normal tissue,and reduce the incidence of complications.

Objective To observe the clinical efficacy of electroacupuncture in treating deglutition disorders after radiotherapy of nasopharyngeal carcinoma. Method Forty nasopharyngeal carcinoma patients with deglutition disorders after radiotherapy were randomized into a treatment group and a control group, 20 in each group. The control group was intervened by nourishing nerve, improving microcirculation, promoting nerve growth factor, and physical rehabilitation. Based on the treatment given to the control group, the treatment group was additionally intervened by electroacupuncture. Water drinking test was adopted to evaluate the deglutition function before and after intervention, and the clinical efficacy was compared. Result After intervention, there was no significant difference in comparing the deglutition function between the two groups (P>0.05). The total effective rate was 80.0%in the treatment group versus 50.0% in the control group, and the difference was statistically significant (P<0.05). Conclusion Electroacupuncture is an effective method in treating deglutition disorder after radiotherapy of nasopharyngeal carcinoma.

Objective To investigate the effect and safety of administering magnesium sulphate as a technique of controlled hypotension during functional endoscopic sinus surgery. Methods Seventy-five patients arranged for selective functional endoscopic sinus surgery under general anesthesia, were randomly assigned into three groups: control group, magnesium sulphate group and nitroglycerin group(n=25). The patients of magnesium sulphate group received 10% magnesium sulphate 40 mg/kg before the induction of anaesthesia, and then 15 mg·kg~(-1)·h~(-1) by continuous infusion during the operation. The same volume of 5% glucose was administered to the patients in control group. Constant infusion of nitroglycerin beginning with 1 μg·kg~(-1)·min~(-1) was administered to the patients in nitroglycerin group. The hemodynamic indexes, amount of bleeding, fluid intake, operation time, recovery time, quality of surgery field, muscle relaxation and adverse reaction were recorded. Concentration of Mg~(2+) in magnesium sulphate group were compared before and after surgery.Results The patients in the magnesium sulphate group maintained balanced heart rates during the operation, while the heart rates of patients in control group and nitroglycerin group increased significantly (P<0.01). The patients of magnesium sulphate group had lower amount of bleeding and shorter operation time compared with control group (P<0.01). The quality of surgery field in magnesium sulphate group was significantly better than that in control group (P<0.01). Time for 75% recovery of myokymia and recovery index in magnesium sulphate group was higher than those in control group and nitroglycerin group(P<0.01). No adverse reaction was observed in all groups. Conclusion Magnesium sulphate can be effective and safe for controlled hypotension during functional endoscopic sinus surgery.

Somatosensory evoked potential(SEP) monitoring was performed intraoperatively in 28 patients with extramedullary or intramedullary tumors.Dissection of intramedullary tumor usually leads to decrease of amplitude and increase of latency in SEP. SEP reappeared at the end of operation in 2 cases of Frankel A grade extramedullary tumors whose SEP disappeared during operation with functional recovering to some degree. In 2 cases of Frankel B and C grade intramedullary tumors, the amplitude of SEP decreased by more than 40% and the latent period in SEP increased by more than 5% during operation,and the surgical procedure was paused for a while.There was slight reversible injury of nerve post operatively. In 8 of 12 cases of Frankel D and E grade intramedullary tumors, the amplitude of SEP descended nearly by 50% and elongation of latency in SEP was about 7% during surgery. SEP was reduced lightly in other 4 cases and all achieved good recovery. Intraoperative monitoring of spinal SEP and cortex SEP can reflect the change of spinal function, reduce post operative complication, and predict prognosis.

BACKGROUND :Although the conventional 20 G pars plana vitrectomy can improve the prognosis of vitreous-retina diseases,but it would also cause serious operation related injury and much complications.OBJECTIVE:To evaluate the practicability and safety of 25-gauge transconjunctival sutureless vitrectomy system (TSV25G) in the macular surgery, so as to elicit the preliminary clinical experience of mimimally invasive vitrectomy system.DESIGN:Case analysisSETTING: Department of Ophthalmology, General Hospital of Chinese People's Armed Police Force; Department of Ophthalmology, Beijing Sino Japen Friendship Hospital; Department of Ophthalmology and Visual Science, Chinese University of Hong Kong; Department of Ophthalmology,Prince of Wales Hospital, Hong Kong PARTICIPANTS: From July 2003 to July 2004, 16 patients with macular diseases were admitted to the Department of Ophthalmology in the General Hospital of Chinese People's Armed Police Force and taken as subjects (n=16), they were confirmed as epiretinal membrane in 9 eyes, idiopathic macular hole in 3 eyes, traumatic macular hole in 2 eyes and vitreo-macu lar tractional syndrome in 2 eyes. The course of disease ranged from 3 to 36 months with eyesight varied between 0.06 and 0.4.METHODS: 16 eyes underwent preoperative ophthalmic evaluation in cluding visual acuity measurement, Amsler chart test, slit lamp microscopy,.indirect ophthalmoscopy tonometry and optical coherence tomography (OCT). For the macular hole patients OCT was performed. 25-gauge Transconjunctival Sutureless Vitrectomy System (TSV25G) was used to carry on minimally invasive surgery under anesthesia state, the surgical parameter was set as: high speed cutter with rate of 1500 cuts per minute,BSS bottle was hang at height of 40-50 cm, the maximum aspiration of TSV25G was 550 mm Hg with the intraocular pressure remained at around 29-35 mmHg during the operation. Three-beveled trocar were used to make three-transeonjunctival incision on sclera of about 0.5 mm long respectively in the infratemporal, superotemporal, and supraotemporal quan drants, meanwhile a transconjunctival cannula was placed. One end of the infusion tube was inserted into the infratemporal cannula to establish infusion with the other two cannulas used for the intraocular operation with 25-gauge vitreous cutter and other instruments, such as vitreoectomy and membrane dislocation. The surgery was terminated by removing the cannula except for ceaseless leak, the conjunctival and scleral incision were not sutured. Patients received follow-up examination for 1-12 months postoperatively.MAIN OUTCOME MEASURES:①The operative time and the time for the establishment of three access. ② Changes of intraocular pressure after operation. ③ The effusion from the puncture after the intraocular perfor mance. ④ The postoperative vision, operative complication and the sealing of the holes.RESULTS:All of the 16 patients completed the vitrectomy; and entered the data analysis.①16 patients complete the vitrectomy with the operative time of 28-56 minutes (the mean of 37 minutes). The average time for the establishment of three access and closing was 84 s and 32 s respectively.②The average preoperative intraocular pressure was 16.4 mm Hg,comparing with 13.5,15.5,17.9 mm Hg at postoperative 1 day, 1 w and 1 m. ③Water leakage were found in 4 wounds of three patients after operation, 3 wounds were sealed after injecting 1-2 mL disinfected air into the eyes, the other one sutured with 6-0 absorbable suture. ④The mean time of inpatients were 5 days postoperatively. The visual acuity improved in 14 patients by the average of three lines, amongst which visual acuity was found improved to above 0.8 in 5 patients and the visual distortion disappeared in 8 eyes and attenuated in 3 eyes. But still there were 2 cases without improvement.No surgical complications were noted and macular hole gained clinical sealing in totally 5 eyes.CONCLUSION: TSV25G system can simplify the surgical procedure with many other advantages such as decreasing the operation related injury and complications, as well as shortening operative time, which benefits the rapid rehabilitation.

ObjectiveTo explore the best treatment method of cerebral artery dissection.Methods This study included eight patients who were definitely diagnosed as cerebral artery dissection by the cerebral angiography in our department of neurology during Oct.2009 and Nov.2011.They were all treated by the anticoagulation or anti-platelet methods.Some patients received the stent therapy.All patients' were followed for at least three months. The treatment effect was assessed by NIHSS,mRS and by the cerebral angiography.ResultsSix patients had carotid artery dissection,2 had vertebral artery dissection.Four patients were given anticoagulant therapy and the other 4 were given anti-platelet therapy. The reexamination by angiography 10-14 days after admission showed that in 3 patients,the stenosis was aggravated or the infarction occurred.They were diagnosed as having repeated transient ischemic attack (TIA) during pharmacotherapy and received stents for treatment.There was no TIA and cerebral infarction in the follow-up period after individualized therapy.Mean NIHSS scores of 8 patients between pre and post treatment were 5.9,1.6 respectively. Mean mRS scores pre and post treatment were 2.5,0.9respectively.Conclusion The treatment for patients with cerebral artery dissection should be individuated.The patients in acute stage should get anticoagulation,anti-platelet therapy and angiography re-examination.According to the clinical manifestation and cerebral angiography,the next step for the treatment should be done.