Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.

ObjectiveTo analyze the feasibility， reliability and validity of the disability assessment for dementia scale for the elderly. MethodsA total of 290 dementia patients from 17 survey sites in 13 districts and counties of Chengdu were enrolled by convenient sampling method， and they were assessed using demographic data inventory， Mini-Mental State Examination （MMSE）， Neuropsychiatric Inventory （NPI）， Physical Self-Maintenance Scale （PSMS） and disability assessment for dementia scale for the elderly. Cronbach's α coefficient， Spearman-Brown coefficient， Guttman split-half coefficient and test-retest reliability were used to evaluate the internal consistency of above scales. Criterion-related validity of the scale was analyzed based on MMSE， NPI and PSMS. ResultsA total of 276 patients （95.17%） completed valid questionnaires. The intraclass correlation coefficient of the total score and each dimension were between 0.828~0.976， the Spearman-Brown coefficient were between 0.790~0.917， the Guttman split-half coefficient were between 0.812~0.857， and the Cronbach’s α coefficient were between 0.737~0.886. The cognitive function dimension score was positively correlated with the MMSE score （r=0.948， P<0.01）， the mental behavior symptom dimension score was positively correlated with the NPI score （r=0.893， P<0.01）， and the daily living ability dimension score was positively correlated with the PSMS score （r=0.997， P<0.01）. The dimensions scores were positively correlated with the total score of the scale （r=0.634~0.841， P<0.05）. ConclusionDisability of dementia assessment scale has good feasibility， reliability and validity， which is a reliable tool to assess senile dementia and disability.

Objective To discuss the clinical application of percutaneous transhepatic removal of gall-stone technique in treating common bile duct (CBD) stones.Methods Between January 2013 and January 2015,a total of 25 patients with CBD stones underwent lithotomy procedure via percutaneous transhepatic route.First,under ultrasound or fluoroscopy guidance percutaneous transhepatic cholangiography (PTC) was performed with subsequent placement of an 8 F rsheath;then,a balloon of 8-12 mm diameter was employed to dilate the papilla;mechanical lithotripsy was adopted when the stone size exceeded 12 mm;finally,through guide-wire exchange technique the stone-retrieval balloon was used to push the stones into the intestinal tract through the sphincter of duodenal papilla.Results The reasons to receive percutaneous transhepatic removal of gall-stone technique in the 25 patients included previous gastrointestinal surgery (n=18),endoscopic treatment failure (n=3),unwilling to receive endoscopic treatment (n=3),and other reasons (n=1).Successful removal of stones was accomplished in all 25 patients.After the treatment,complications occurred in 3 patients (12％),including fever (n=2) and liver abscess formation (n=1).The patients were followed up for 0.5-3 years;two patients died of tumor recurrence and metastasis,and one patient developed recurrence of common bile duct stones.No reflux cholangitis occurred.Conclusion For the treatment of CBD stones,percutaneous transhepatic removal of gall-stone technique carries higher technical success rate with lower incidence of complications,therefore,this technique can be used for the patients who are not suitable for endoscopic treatment or in whom endoscopic treatment failed.

Objective To optimize the method for radiotherapy target delineation after breast cancer surgery, and to observe its advantage in raising work efficiency. Methods Ten physicians in our department were selected, and 20 patients who received breast?conserving surgery were randomly selected. The 10 physicians delineated the targets for these patients with the method in the control group and the method in the study group, and the time required for each delineation was recorded. The method in the control group was commonly used in daily practice and the method in the study group was optimized. The independent?samples t test was applied to compare the differences between the two groups. Results With the optimized method, the average time of delineation in the study group was less than that in the control group ( 51 min vs. 65 min, P=0. 029) . The time curves for delineation in the control group were relatively flat;the time curves for delineation in the study group were high at first, then decreased gradually, and finally became flat. The time for each physician to finish delineation skillfully was relatively stable, while in the study group, the time started to decrease after delineation for the first few patients, with an apparent learning process. Conclusions The optimized method for target delineation in breast cancer is feasible, reliable, and easy to master, and can increase work efficiency, which is more obvious in physicians with rich experience in delineation.

Objective To investigate the effect of pain nursing professional and technical team on the improvement of pain control quality .Methods A total of 314 nurses in our hospital were randomly selected by pain nursing professional and technical team for pain knowledge training .The hierarchical pain knowledge training was taken to compared nurses′professional knowledge , professional skills , pain nursing quality before and after pain knowledge training .Results 64.01% of the nurses thought that pain knowledge training was necessary , and 98.72% nurses agreed with teaching combined with practice in the form of training .After the training, nurses professional knowledge of pain (83.4 ±3.1), professional skills (85.4 ±2.7) were better than before (63.8 ±3.8),(66.2 ±5.5) and they had statistical difference (t=70.821, 19.200,respectively; P<0.01).Pain nursing quality score increased from (58.4 ±3.4) to (87.1 ±2.9), a significant difference was found before and after the training (t=143.608, P<0.01).Conclusions Pain nursing professional and technical team through carrying out a wide range of pain knowledge training can significantly improve the nurses′pain nursing professional knowledge, professional skills and pain nursing quality, and increase patient′s satisfaction.

Objective To explore the nursing experience of interventional therapy forisolat-ed superior mesenteric artery dissection(ISMAD).Methods The clinical material of 12 patients with ISMAD was retrospectively analyzed.Preoperative preparation,close coordination with doc-tors and strict postoperative nursing were the key to the operation.Results All patients were suc-cessfully implanted the stent without complication.Conclusion Percutaneous endovascular stent implantation is a reliable treatment for ISMAD and it provides security for patients in perioprative period.

Objective To explore the nursing experience of interventional therapy forisolat-ed superior mesenteric artery dissection(ISMAD).Methods The clinical material of 12 patients with ISMAD was retrospectively analyzed.Preoperative preparation,close coordination with doc-tors and strict postoperative nursing were the key to the operation.Results All patients were suc-cessfully implanted the stent without complication.Conclusion Percutaneous endovascular stent implantation is a reliable treatment for ISMAD and it provides security for patients in perioprative period.

Background and purpose:More than 70 percent of ovarian cancer patients were diagnosed in the advanced stage. Currently the 5-year disease free survival (DFS) of stageⅢC-Ⅳovarian cancer patients wsa about 10 percent after first line chemotherapy. This study aimed to improve the 5-year DFS by three-step chemotherapy according to the mechanisms of ovarian cancer biological characteristics, cytodynamics and pharmacology. Methods:In arm A, the patients received three-step chemotherapy after primary debulking surgery, step one with paclitaxel plus carboplatin (TC regimen), every 3 weeks for 6 to 8 cycles;step two with etoposide plus cyclophosphamide, every 4 weeks for 6 cycles;step three wit carboplatin plus cyclophosphamide every eight weeks for six cycles. In control arm B, we retrospectively analysed 51 cases withⅢC-Ⅳstage ovarian cancer, who had completely response after standard chemotherapy with six to eight cycles of TC after primary surgery during 2007. We compared the 5-year DFS between the two arms. Results:The 5-year DFS of 15 cases in arm A was 80%(12/15), which was signiifcantly higher than that of arm B (5.9%, 3/51, P<0.01). Conclusion: The three-step chemotherapy after optimal debulking surgery in stageⅢC-Ⅳ can improve the 5-year DFS. This regimen is high efficacy, mild side-effect witn low cost, which deserves further exploration.

Objective To establish a rabbit model of radiation-induced skeletal muscle injury in order to study the ultrastructural pathological changes and underlying mechanism.Methods 28 New Zealand rabbits were randomly divided into 2 groups with 16 rabbits in experimental group and 12 rabbits in control group.The experimental rabbits were irradiated on hip with a single dose of 80 Gy of 9 MeV electrons from a linear accelerator.1 month and 6 months after irradiation the pathological changes were respectively observed under light microscope and electron microscope.Results One month after irradiation,the morphologic changes including degeneration,necrosis of muscle cells,and hemorrhage between the muscle cells were observed under light microscope and the swelling of myofibrillae,blurring of light and shade band,vacuolar degeneration of mitochondria and amorphous areas of necrosis were observed under electron microscope.Six months after irradiation,the morphologic changes of nucleolus chips,fibrous connective tissue,thickening of vascular wall and vascular congestion between the muscle cells and the amorphous areas of necrosis in the experimental group were much more serious than those of 1 month after irradiation.In addition,the myofilaments were lost in degeneration areas and the sarcomere became shorten.Observation with electron microscope showed that the mitochondrial size and its morphological changes were varied and the amounts of collagen between myofibrillaes were increased 6 months after irradiation.Conclusions A rabbit model of high-dose irradiated skeleton muscle injury was successfully established with a single dose of 80 Gy of 9 MeV electrons from a linear accelerator.The degeneration and necrosis of muscle cells may be promoted by mitochondrial and vascular injury,degeneration of vessel and nerve fiber.

OBJECTIVE: To explore the regulative effect of expression of VEGF gene in nasopharyngeal carcinoma, and to discuss the future application of microRNA in the gene therapy for nasopharyngeal carcinoma. METHOD: We constructed the recombination miRNA plasmid vectors which target VEGF gene and plasmids were transfected into CNE-2 cells by using Lipofectamine 2000 Reagent. The VEGF mRNA and VEGF protein were detected by reverse transcriptase polymerase chain reaction (RT-PCR) and Western blotting respectively. WST-8 assay was used to determine the inhibitory effect of microRNA on cell growth. Stable cell lines and wild type CNE-2 cell line were inoculated to subcutis of nude mice to establish animal models. The tumor growth and volume were observed. RESULT: After the transfection of CNE-2 cells , the expressions of VEGF mRNA and VEGF protein were down-regulated at different degree. Whereas, CNE-2 cell growth showed no change by observation of fluorescence microscopy, and cell proliferation was not inhibited in WST-8 assay. However, in vivo, growth of xenograft was inhibited in preliminary experiments of nude mice. CONCLUSION By miRNA plasmid constructed artificially, miRNA can effectively interfere nasopharyngeal carcinoma cells by down-regulating the expressions of VEGF gene, therefore can inhibit the growth of tumor xenografted in vivo. Future application of microRNA in the gene therapy of nasopharyngeal carcinoma might be expected.
Animals ; Cell Line, Tumor ; Female ; Genetic Therapy ; Humans ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; MicroRNAs ; genetics ; Nasopharyngeal Neoplasms ; genetics ; metabolism ; Plasmids ; Vascular Endothelial Growth Factors ; genetics ; metabolism