OBJECTIVE: To assess the evaluation on auditory rehabilitation effect for 42 deaf children with GJB2 gene mutation after cochlear implantation to provide a reference for the cochlear implant effect evaluation of such patients. METHOD: To conduct the detection on common genetic deafness gene mutation hotspots of hearing impaired children with cochlear implantation. To conduct auditory rehabilitation effect evaluation on 42 cases of patients with GJB2 genetic deafness after 3 months, 6 months and 12 months of the operation respectively. The single factor repeated measure ANOVA was applied to analyze whether there were significant difference among the results of initial consonant of a Chinese syllable recognition at 3 different stages after the operation, the results of vowel of a Chinese syllable recognition at 3 different stages after the operation, and the results of two-syllable recognition at 3 different stages after the operation. RESULT: 235delC is the high-incidence mutational site in 42 cases of patients with GJB2 genetic deafness, the total detection rate is up to 90.48%. There were significant differences in the initial consonant of a Chinese syllable recognition rate, the vowel of a Chinese syllable recognition rate, the two-syllable recognition rate as well as the vowel of a Chinese syllable recognition rate after 3 months, 6 months and 12 months of the operation (P < 0.01). CONCLUSION Cochlear implantation is a safe and effective measure for auditory reconstruction, it can help patients with GJB2 hereditary severe sensorineural deafness to improve auditory speech recognition.
Asian Continental Ancestry Group ; Child ; Cochlear Implantation ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; rehabilitation ; Hearing Loss, Sensorineural ; genetics ; rehabilitation ; Humans ; Language ; Mutation

Objeetive To investigate the relationship among social avoidance and acceptance of disability in burn patients.Methods Totally 127 patients were investigated using Social Avoidance and Distress Scale (SADS),Acceptance of Disability Scale (AODS),demographic information questionnaire and disease related information sheet.Results The points of burn patients' SADS was (21.38±6.75),One-way ANOVA showed that gender,marital status,special parts burns,amputation affected social avoidance significantly.The total score and factors scores of acceptance of disability were all negatively related to the score of social avoidance.Regression analysis showed that acceptance of disability,head burns,gender were the independent risk factors of depression.Conclusions Acceptance of disability were negatively related to social avoidance; Nurse can help them accept the reality of disability,develop the confidence to partici-pate in social communication,and improve the social adaptability.

Objective To evaluate the efficacy of medical supervised aerobic exercise on physical activity, quality of life and psychological status in patients with systemic lupus erythematosus (SLE). Methods SLE patients who fulfilled ACR criteria were recruited and divided into 2 groups: exercise group (n=24) and control group (n=25). The patients in the exercise group were supervised to have aerobic exercises. The intensiveness of exercise was determined by 20%-40% of maximum heart rate reservation. Visual analog scale (VAS), SLE disease activity index (SLEDAI) score, physical working capacity (PWC170), SF-36 and profile of mood states (POMS) of the two groups were used to evaluate the changes at the baseline, 1 month, 3 months and 6 months after this study. Results The 2 groups were homogeneous and comparable in disease activity at baseline. 1, 3 and 6 months after the study, the VAS, PWC170, POMS and SF -36 of SLE patients were improved in certain degrees in both groups, while the improvement of VAS (P<0.05), PWCITO (P< 0.01 ) and social function of SF-36 (P<0.05) of exercise group were significantly more evident than those of the control group in 6 months after study without any impact on disease condition. There was a high negative correlation between VAS and 5 categories of POMS (r=-6.26~-0.393, P<0.01 ) and a more relevant positive association between VAS and 2 categories of POMS (r=0.534~0.611, P<0.01). Conclusion The data demonstrate that the supervised aerobic exercise can ameliorate physical capacity, improve quality of life and psychological and emotional status in the state SLE patients without aggravating disease per se.

Objective To explore the lethal action and possible mechanism of RI-1, a RAD51 inhibitor, on MSH2 deficient colorectal cancer cells.Methods The expression of MSH2 protein level was assessed by Western blot, and the sensibility of human colorectal cancer cells to RI-1 (10, 20, 30, 40 and 50 μmol/L)was measured by MTT method.Lentivirus vectors MSH2-shRNA and Neg-shRNA (negative control) were constructed and transfected into HT29 cell.Apoptosis and DNA damage of cells treated with RI-1(40 μmol/L)were detected by flow cytometry and Single cell gel electrophoresis respectively.In addition, the formation of γ-H2AX foci was analyzed by immunofluorescence.Results Compared with control, MSH2-deficient HCT8 cells had obviously apoptosis(P<0.01);in HCT8 and HT29 Shmsh2 cells, tail DNA%, tail length, tail moment and olive tail moment were markedly increased(P<0.05),and the number of γ-H2AX focus were increased(P<0.01).Conclusions RAD51 inhibitor RI-1 selectively kills MSH2 deficient colorectal cancer cells by increasing DNA damage.

Objective To observe the clinical responses and hemodynamic changes of single chamber endotracheal intubation general anesthesia applied to thoracoscopic resection of esophageal carcinoma under carbon dioxide pneumothorax. Method Sixty [ASA I ~ II, NYHA I ~ II, hight (148.57 ± 10.95) cm, weight (40.52 ± 3.97) kg] patients who were light weight, short height, and underwent thoracoscopic resection of esophageal carcinoma in pneumothorax with filling carbon dioxide under general anesthesia of tracheal intubation with single lumen were selected. CO2gas (6 ~ 8 L/min) was slowly inserted into the operative side thoracic cavity to maintain intrathoracic pressure 6 ~ 8 mmHg (1 mmHg=0.133 kPa), heart rate (HR), blood pressure (BP), central venous pressure (CVP), pulse oxygen saturation (SpO2), airway pressure (PaW), partial pressure of end-tidal carbon dioxide (PETCO2) and other indicators and so on, were collected at the 5 minutes before artificial pneumothora (T1), and at the 5 minutes (T2), 15 minutes(T3), 30minutes (T4), 60 minutes (T5), 100 minutes (T6) after artificial pneumothorax, and 10 minutes at the end of thoracic operation (T7), Samples of arterial blood gases were obtained at the same time. Results All cases were successfully completed by thoracoscopic surgery, significant arrhythmias and severe complications were not found at each time point; After CO2pneumothorax, HR, CVP, PaW, PETCO2and PaCO2at T2~ T6increased significantly than those at T1(P < 0.05); but BP, Arterial oxygen pressure (PaO2) and blood pH value decreased significantly at T2~ T6than those at T1(P < 0.05); SpO2at T3and T4was significantly lower than that at T1(P < 0.05), Although SpO2also decreased at T5and T6, there was no significant differences comparing to at T1(P > 0.05). After T7, most of the remaining indicators were restored to the base level excep that CVP remains high. Conclusion When patients with low weight and short stature underwent tracheal intubation under single lumen anesthesia for thoracoscopic resection of esophageal cancer under carbon dioxide pneumothorax, their hemodynamics were relatively stable,and all the indexes of respiration and arterial blood gas were within the acceptable range, It was a feasible, relatively safe method of anesthesia for such patients who could enjoy thoracoscopic techniques.

Objective: To investigate the causal relationship between antioxidant nutrients and pregnancy complications, so as to provide the reference for the prevention and treatment of pregnancy complications. Methods: Data of seven antioxidant nutrients including vitamin A, vitamin C, vitamin E, selenium, zinc, copper and iron were collected from genome-wide association study (GWAS) Catalog database, and data of four pregnancy complications including gestational diabetes mellitus, pre-eclampsia, spontaneous abortion and preterm birth were collected from the Finland database. Single nucleotide polymorphism (SNP) data were collected, and 27 SNPS strongly correlated with seven antioxidant nutrients were selected as instrumental variables. Mendelian randomization (MR) analyses were performed using the inverse-variance weighted (IVW) method with seven antioxidant nutrients as exposures factors and four pregnancy complications as outcome variables. The heterogeneity was assessed using the Cochran's Q test, the horizontal pleiotropy was assessed using the MR-PRESSO test and MR-Egger regression, and the robustness of the results was verified with the leave-one-out. Results: Cochran's Q test showed heterogeneity of MR results between vitamin C and gestational diabetes mellitus, preeclampsia and preterm birth, between vitamin E and iron and gestational diabetes (all P<0.05), and a random effect model was employed. There was no heterogeneity in other results (all P>0.05), and a fixed effect model was employed. MR analysis results showed that there was no causal association between seven antioxidant nutrients and the risk of four pregnancy complications (all P>0.05). MR-PRESSO test and the MR-Egger regression identified no horizontal pleiotropy of instrumental variables (both P>0.05). Conclusion This study did not find genetically predicted associations of antioxidant nutrients with pregnancy complications.

Objective To analyze human leucocyte antigen (HLA)-A0201 restricted antigen-specific cytotoxic lymphocytes (CTL), and to investigate the difference of T cell response to specific antigen epitopes between patients with acute phase of acute hepatitis B and active phase of chronic hepatitis B. Methods Peripheral blood mononuclear cells (PBMC) from 5 patients with acute phase of acute hepatitis B and 6 patients with active phase of chronic hepatitis B were isolated. The numbers and functions of CD8+ T-lymphocyte epitope peptide specific CTL were detected using enzyme-linked immunosorbent spot (ELISPOT) assay, and the 3 peptides were from HBV polymerase region (Pol575-583), envelope region (Env348-357) and core region (Core18-27), respectively. The data were analyzed using t test. Results The spot formation cell counts (SFC) of Pol575-583, Env348-357 and Core18-27 stimulations in patients with acute phase of acute hepatitis B were 110±13, 165±17 and 185±20, respectively; and those in patients with active phase of chronic hepatitis B were 22±4, 23±5 and 30±5, respectively; the differences were all significant (t=10.9, 15.2 and 8.0, respectively, all P<0.05). The CTL responses to the three peptides in patients with acute phase of acute hepatitis B were Pol575-5830.05). The SFC were increased upon non-antigen specific HLA-A2404 restricted epitope (Core117-125), but the difference was not significant compared with negative control group (P>0.05). Conclusions Hepatitis B virus-specific CTL responses in patients with acute hepatitis B are significantly higher than those in patients with chronic hepatitis B. The number and function of polyclonal CTL are both impaired in patients with chronic hepatitis B.

OBJECTIVE The aim was to explore the clinical experiences and access the auditory performance and speech intelligibility of cochlear implantation in patients with inner ear malformations. METHODS Among 700 patients who received multi-channel cochlear implantation from 1997 to 2007 in Beijing Tongren Hospital, 108 patients were diagnosed with malformed inner ear. A retrospective study was performed about the surgical characteristics and the mapping characteristics after implantation. The long term follow-up of the rehabilitative efficacy will also be presented. RESULTS ①All patients restituted auditory after operation. ②After the regular rehabilitation, the long term follow-up of the auditory performance and speech intelligibility were very positive. Everyone has shown improved listening and communication skills evaluated by Categories of Auditory Performance and Speech Intelligibility Rating. ③Most of the children are studying or working and are actively involved in their local communities. CONCLUSION The cochlear implantation can be performed safely in patients with malformed inner ear. The results suggest that cochlear implantation could also provides long-term benefits to those malformed inner ear cases.

Objective To observe the effect of Sinisan on the learning and memorial ability and the expression of synaptohydin in the hippocampus of exercise-fatigue rats. Methods Rats were made into the fatigue model by Exhaustive Swimming. Learning and memorial ability of the rats were observed by moving-back with current stimulation experiment; expression of synaptohydin protein in hippocampus of exercise-fatigue rats treated with Sinisan for 10 days were detected by immunohistochemistry technique and compared to control group and model group.Results The moving-back time and the error times of the exercise-fatigue rats as follows: model group(73.00±61.96) s/(1.67±1.15), control group(144.25±57.14) s/(0.50±0.80)，Sinisan group (166.17±47.92) s/(0.38±0.49). Comparison of mean optical density of synaptohydin protein in hippocampus of rats in different groups as follows: control group (0.2636±0.10654) and Sinisan group (0.2555±0.163380) were higher than the model group (0.0474±0.1837)(P<0.05). The synaptohydin staining Results showed that synaptohydin-positive granules around the neuron in hippocampus of rats in control group were the darkest and densest, the Sinisan group were darker than the model group rats.Conclusion Sinisan could improve the learning and memorial ability and increase the synaptohydin protein in the hippocampus of the exercise-fatigue rats.

OBJECTIVETo perform mutation analysis for 81 unrelated patients with Duchenne/Becker muscular dystrophy (DMD/BMD) from Henan Province.

METHODSMultiplex ligation-dependent probe amplification (MLPA) was used to detect potential deletion/duplications of the DMD gene. Those with single exon deletions were validated with PCR amplification and Sanger sequencing to rule out false positive results. Patients with negative MLPA results were further analyzed with next-generation sequencing (NGS), and the result was validated by Sanger sequencing.

RESULTSDMD gene deletion/duplications were detected in 67 cases by MLPA, and exons 45-54 was the most frequently deleted. The phenotypes of 79.1% patients with a deletion or duplication has conformed to the reading frame rule. In addition, 13 mutations were detected by NGS and Sanger sequencing, which included 6 novel mutations including one frameshift mutation c.4708-4709insTG and 5 nonsense mutations (c.8812G>T, c.2131A>T, c.6035T>A, c.3426C>A, and c.3055C>T).

CONCLUSIONThis results have enriched the DMD gene mutation database. Combined MLPA, NGS and Sanger sequencing can greatly enhance the sensibility and specificity of genetic testing for the DMD/BMD.

Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; methods ; Female ; Gene Deletion ; Gene Duplication ; genetics ; Humans ; Infant ; Male ; Middle Aged ; Muscular Dystrophy, Duchenne ; genetics ; Mutation ; genetics ; Young Adult