Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and prenatal gene diagnosis.

Objective To identify the application of puncture biopsy under ultrasound guidance in diagnosis of bone tumor.Methods The results of ultrasonic puncture biopsy were comparatively analysed with that of imaging diagnosis and postoperative-pathological diagnosis in 17 patients with bone tumors.Results The giant cell tumor of bone were diagnosed by puncture biopsy in 8 cases,by imaging in 12 cases and by pathology,postoperation in 9 cases,the corresponding rate was 66.7% and 88.9% respectively.Bone cyst in 2 cases,fibrous dysplasia in 2 cases,metastasis from lung carcinoma in one case,osteosarcoma in 2 cases were confirmed by both pathology and puncture biopsy.The aneurysmal bone cyst in one case was diagnosed by imaging,but no blood-like fluid was harvested in puncture,one case of metastasis in proximal femur,one case of fibrous dysplasia and one case of osteosarcoma were diagnosed by imaging,while one case,2 cases and one case diagnosed by puncture respectively.One case of bone cyst was confirmed by imaging,puncture biopsy and pathology.Conclusion The puncture biopsy under ultrasound guidance is of high diagnostic rate in bone tumors,it is a good choice for the diagnosis of bone tumor.

Objective To discuss the clinical efficacy of advanced primary liver cancer under the chemother-apy of hyperthermia combined with EOF approach.Methods 75 patient samples who had advanced primary liver cancer in total were chosen and were divided into the two groups randomly.The control group containing 37 patient samples had advanced primary liver cancer which would be applied with EOF approach.The treatment group contai-ning 38 samples had advanced primary liver cancer.The treatment strategy was to apply EOF approach combined with high -frequency hyperthermia in vitro.Results The total rate of efficiency on the treatment group and control group was 73.68% vs 48.6%.The DCR rate was 92.1% versus 56.8%,1 year survival rate was 57.8% versus 45.9%and 2 years survival rate was 10.5% versus 5.4% which showed that the results of the treatment group was obviously better than that of the control group.Conclusion The method that combining the chemotherapy of hyperthermia with EOF to treat advanced primary liver cancer can obviously improve clinical efficacy and survival period.What′s better is that this approach will not increase the toxicity of chemotherapy.

Objective To sum up the clinical experience of operative management of tibia plateau fracture in senile patients. Methods 35 cases of senile tibia plateau fracture were treated with different ways of internal fixation, including screw, cannulated compression screw, L shaped plate, and T shaped plate. Results All the 35 cases were followed up and the time ranged from 6 months to 2 years. X ray films showed that the anatomical reduction was reached and the fractures healed in 33 cases. The final results were rated according to Merchant criteria: excellent in 22 cases, good in 9 cases, fair in 2 cases and poor in 2 cases. The excellent and good rates were 85.7%. Conclusions Operation on senile patients with tibia plateau fracture should be performed early so as to reconstruct the articular surface. Rigid fixation and bone transplantation are impartment means to avoid plateau collapse, and early functional exercise can reduce postoperative complications.

Objective To investigate the antitumor activities of adenovirus-mediated NDRG2 gene (Ad-NDRG2) and docetaxel on human prostate cancer DU145 cells.Methods The protein expressions of cyclin D1,cycliu E,and NDRG2 in the cells were determined by Western blot.MTT and flow cytometry were used to observe the effects of docetaxel (10-6 mol/L,10-7 mol/L,and 10-s mol/L) and Ad-NDRG2 on prostate cancer cell line DU145 in single or synergistic administration ways for 24 and 48 hours in vitro.Male BALB/C-nu mice with DU145 prostate cancer cell lines were treated by docetaxel and Ad-NDRG2 singly or synergistically in vivo.Results After infected by adenovirus,the protein expression of NDRG2 increased,but cyclin D1 and cyclin E decreased in DU145 cells.Ad-NDRG2 inhibited the cell growth (inhibition ratio =41.8％,t =4.18,P ＜0.01),promoted apoptosis (apoptosis ratio =32.4％,x2 =11.66,P ＜0.05),changed the ratio of G2/M phase from 50.2％ to 23.6％,and reversed partially the G2/M arrest,of DU145 cells induced by 10-7 mol/L docetaxel.In vivo experiment showed that docetaxel,Ad-NDRG2,and combination of docetaxel and Ad-NDRG2 inhibited tumor growth with a inhibition rate of 30.7％,28.2％,and 55.8％,respectively.The coefficient of drug interaction (CDI) of docetaxel and Ad-NDRG2 was 0.89.Conclusions Ad-NDRG2 can enhance the growth suppression and apoptosis induced by docetaxel in synergistic way in vitro and in vivo.It demonstrated the great potential of Ad-NDRG2 in the treatment of androgen-independent prostate carcinoma.

Objective To explore the influence of pelvis obliquity in lateral position to acetabular component orientation during total hip arthroplasty (THA),and the method to correct.Methods Fifty patients (62 hips) were performed THA with posterolateral incision in lateral position by the same team.The patients were randomized and divided into experimental group (EX,with 25 cases,34 hips) and control group (CON,with 25 cases,28 hips).In EX group,the acetabular components were placed by means of the gradienter and plumb correcting technique during THA.While in CON group,the acetabular components were placed by traditional method during THA.The acetabular abduction angles were measured postoperatively,and compared between the two groups.Results The average obliquity of pelvis was-1.647°±4.512°in EX group when putting the patient in lateral position before correcting.Through the application of gradienter and plumb,the average abduction angle of acetabular component was 42.685°±3.355° postoperatively,with the difference of 1.962°±1.515° compared with the preoperative angles.And in CON group,the average abduction angle of acetabular component was 44.534°±4.844° postoperatively,with the difference of 4.244°±3.042°.The difference of abduction angle in CON group was much higher than that in EX group (P＜0.05).Conclusion The pelvic obliquity when putting the patient under lateral position will affect the surgeons'judgments of placing acetabular component during THA,furthermore,lead to inconsistency among the abduction angles obtained preoperatively,intraoperatively and postoperatively.By applying the correcting method with gradienter and plumb,the discrepancy can reduce obviously between the abduction angle measured postoperatively and that of measured during operation comparing with traditional method.

Objective To observe the incidence of fragmented QRS complex (fQRS)and ST Segment depression fQRS (STD fQRS)during the first 48 hours after non-ST elevation myocardial infarction(NSTE MI)and discuss the value of predicting mortality in patients with NSTE MI .Methods Based on the ECGs ,the patients with NSTE MI were divided into two groups :fQRS and non fQRS group .And then fQRS group was divided into two sub-groups :STD fQRS and non-STD fQRS group .Their mortality was studied during long-term follow-up .Results (1)731 patients with NSTE ACS [the NSTE MI group(n=609) and the UA group(n=122)] were studied .The incidence of fQRS in the NSTE MI group was higher than that of the UA group .(2)All cause mortality in the fQRS group were higher than that in the non-fQRS group ,and all-cause mortality in the STD fQRS group were higher than that in the non-STD fQRS group ,all the above results were not only in the early stages of NSTE MI ,but also in the long term fol-low-up .(3) Multivariate Cox regression analysis revealed that STD fQRS was an independent significant predictor for all cause mortality ,but not of the fQRS .Conclusion The STD fQRS may be an independent predictor of mortality in patients with NSTE MI .

BACKGROUND: Speech audiometry is decisive in selecting hearing aid,but it is seldom used in clinic in China.OBJECTIVE: To understand the differences in the speech resolution with speech audiometry between in-the-ear (ITE) and behind-the-ear (BTE)hearing aids.DESIGN: Paired controlled study.SETTING: Auditory Center of the 414 Hospital of Chinese PLA, Auditory Rehabilitation Center of Jiangsu Province.PARTICIPANTS: A total of 62 patients with auditory disability were selected from the Auditory Center of the 414 Hospital of Chinese PLA and Auditory Rehabilitation Center of Jiangsu Province. Among 32 ITE hearing aid users, average hearing loss at 500, 1 000, 2 000 and 4 000 Hz, was less than 85 dB, and the patients were aged from 16 to 60 years. Among 30 BTE hearing aid users, average hearing loss at 500, 1 000, 2 000 and 4 000 Hz, was also less than 85 dB, and the patients were aged from 16 to 60 years. All patients were consent.METHODS: Open and close methods were adopted for speech audiometry among ITE and BTE hearing aids users. Monosyllabic and disyllabic words were chosen as the type of speech and 20 words were given to one ear, respectively.MAIN OUTCOME MEASURES: Comparison of speech resolution with monosyllabic and disyllabic words test between ITE and BTE hearing aid.RESULTS: In aspect of the effect of ITE and BTE hearing aids, there were no significant differences of both monosyllabic and disyllabic words no matter through open or close method (P ＞ 0.05). At the opening state, there were significant differences in resolution of monosyllabic and disyllabic words (P ＜ 0.05); while, there were no significant differences (P ＞ 0.05) at the closing state.CONCLUSION: Carrying out speech audiometry in the selection hearing aid is influenced by many factors.

In recent years, through the measurement and analysis of size ratio(SR), inflow angle (IFA), volume-to-ostium ratio(VOR), flow angle(FA), parent-daughter angle(PDA), A1- A2 diameter ratio(A1/A2), a ratio of aneurysm volume to bounding sphere volume(AVSV), a ratio of aneurysm surface to bounding sphere surface (AASA), some international scholars assessed aneurysm rupture risk, and had made some preliminary progress. Research showed that the geometry parameters had the objective significance for the evaluation of the risk of aneurysm rupture, and the bigger the SR, IFA, VOR, FA, A1/A2, AVSV, AASA, the easier the rupture of aneurysms. The smaller the PDA, the easier the rupture of the aneurysms.

Objective:To study the functional connectivity (FC) and metabolic effective connectivity (MEC) patterns of the default mode network (DMN) in healthy male adults based on a novel hybrid PET/MR system.Methods:Fifteen healthy male adults with median age of 29 years were recruited locally in Xi′an from January to May 2019. All subjects went through PET/MR scan to get the whole brain 18F-fluorodeoxyglucose (FDG) PET, resting-state functional MRI (fMRI) and magnetization prepared rapid gradient echo (MPRAGE) T 1 weighted imaging data. CONN18b and statistical parametric mapping (SPM) 12 softwares were used to analyze data. The voxel-wise FC and FDG metabolic data were extracted within 4 sub-networks of DMN, which included medial prefrontal cortex (MPFC), posterior cingulate cortex (PCC) and bilateral lateral parietal (LP). The FC and MEC between 4 sub-networks were calculated based on merged resting-state fMRI and metabolic data, and analyzed by one-sample t test separately, with Bonferroni correction. Results:FC pathways were all significant within 4 sub-networks of DMN ( t values: 6.00-7.71, all P<0.008, Bonferroni corrected). Meanwhile, there were significant bi-directional MEC between MPFC and PCC(MPFC to PCC: t=10.03; PCC to MPFC: t=3.73, both P<0.004, Bonferroni corrected), as well as between bilateral LP (LP_L to LP_R: t=5.28; LP_R to LP_L: t=4.76, both P<0.004, Bonferroni corrected). There were significant uni-directional MEC from both MPFC and PCC to bilateral LP ( t values: 3.44-6.93, all P<0.004, Bonferroni corrected). Conclusions:Special FC and MEC patterns exist within DMN. The closely interrelated MPFC and PCC play more important roles in DMN, and they may mediate LP jointly. The novel integrated PET/MR system will bring new perspective on the organization of brain networks, which may deepen the comprehensive understanding of DMN.