of apoptosis-related gene.

Objective　To study the clinic, neuro-electrophysiology and molecular biology of Machado-Joseph disease (MJD).Methods　Family visiting, physical examination and the blood samples were analysed on molecular biology in 44 members of a family with MJD.The cases of inpatients were examined on cerebrospinal fluid and neuro-electrophysiology.Results　10 patients of the family attacked,which were consisted with autosomal dominant inheritance type. Age of the onset was 8～38 years old. The clinical characteristic was progressive severe spinocerebellar of ataxia,faciolingual myokymia,bulging eyes.Change of denervated muscle was revealed by neuro-etectrophysiological examination. Light atrophy was observed in cerebellar,brain stem, spinal cord.The genetic defect of MJD was located the long arm of chromosome 14 between D14S280 and D14S81, their distance was 3.0 cm.All tested patients had their CAG repeated expansion from 72 to 84 in the MJD gene.Conclusion　MJD is a neuro-degenerative disorder of autosomal dominant inheritance. The disease was clinically characterized by progressive severe spinocerebellar ataxia, no obvious changes of cerebrospinal fluid,neuro-electrophysiology, CT and MRI.The genetic defect of MJD was located the long arm of chromosome 14.The number of CAG repeated expansion mutation was associated with the age of the onset.

Objective To study the clinic, neuro electrophysiology and molecular biology of Machado Joseph disease (MJD).Methods Family visiting, physical examination and the blood samples were analysed on molecular biology in 44 members of a family with MJD.The cases of inpatients were examined on cerebrospinal fluid and neuro electrophysiology.Results 10 patients of the family attacked,which were consisted with autosomal dominant inheritance type. Age of the onset was 8~38 years old. The clinical characteristic was progressive severe spinocerebellar of ataxia,faciolingual myokymia,bulging eyes.Change of denervated muscle was revealed by neuro etectrophysiological examination. Light atrophy was observed in cerebellar,brain stem, spinal cord.The genetic defect of MJD was located the long arm of chromosome 14 between D 14 S 280 and D 14 S 81 , their distance was 3.0 cm.All tested patients had their CAG repeated expansion from 72 to 84 in the MJD gene.Conclusion MJD is a neuro degenerative disorder of autosomal dominant inheritance. The disease was clinically characterized by progressive severe spinocerebellar ataxia, no obvious changes of cerebrospinal fluid,neuro electrophysiology, CT and MRI.The genetic defect of MJD was located the long arm of chromosome 14.The number of CAG repeated expansion mutation was associated with the age of the onset.

Objective To detect hepatitis C virus (HCV) RNA in amniotic fluid of gravida and investigate mother-to-infant transmission of HCV. Methods Thirty-four HCV seropositive gravida (experimental group) were engaged. Fluorescence quantitative polymerase chain reaction (PCR) based on amplisensor assay and reverse transcription -PCR (RT-nPCR) was used. Serum HCV RNA positive sera were genotyped by RFLP analysis of PCR products from 5′NC region. Sera and amniotic fluid samples of 40 normal gravida were set as the control group. Results In the experimental group, HCV RNA was detected in amniotic fluid (5.9%, 2/34) of 2 cases. HCV RNA titers were 10 5 and 10 6 copy/ml respectively. No HCV RNA was detected in the amniotic fluid and sera of the control (n=40). Conclusions HCV RNA was rarely detected in amniotic fluid. The amniotic fluid is not the main route of HCV mother-to-infant transmission.

Objective To evaluate the application of interferon-γ release assay T-SPOT.TB in diagnosis and efficacy assessment of pulmonary tuberculosis. Methods T-SPOT.TB assay was used to determine spot-forming cells (SFCs) formed by T-cells when stimulated by Mycobacterium tuberculosisspecific antigens in 55 patients with active tuberculosis,14 patients with non-tuberculosis lung diseases and 12 healthy controls. Meanwhile 20 sputum culture-positive and qualitative assay-positive pulmonary tuberculosis patients were tested with T-SPOT.TB before and at 2-month and 6-month after treatment.Kruskal-Wallis H and Mann-Whitney U test were used in group comparison.Wilcoxon test was used in comparison between pre- and post-treatment.Results The positive rate of T-SPOT.TB was significantly higher in patients with tuberculosis (85.5％,47/55 ) than that in patients with non-tuberculosis lung diseases (2/14) and the healthy controls (1/12) (x2 =40.926,P ＜0.05).The SFCs of hole A in response to ESAT-6 and hole B in response to CFP-10 in pulmonary tuberculosis group were 70.00 (27.00 -125.00) and 80.00 ( 17.00 - 180.00),respectively,which were all significantly higher than those in nontuberculosis lung diseases group and the healthy controls (x2 =35.376 and 30.485,P ＜ 0.05 ).The sensitivity,specificity,positive predictive value and negative predictive value of T-SPOT.TB in diagnosis of smear-positive tuberculosis were 88.6％,88.5％,91.2％ and 85％,while in diagnosis of sputum smearnegative tuberculosis,the sensitivity was 80％,specificity was 88.5％,positive predictive value was 84.2％ and negative predictive value was 85.2％ ( P ＞ 0.05 ).SFCs of hole A and hole B in 20 patients with sputum culture-positive and qualitative assay-positive pulmonary tuberculosis were 75.50 (41.25 -116.25 ) and 56.25 ( 105.00 -225.00) before the treatment.After 2-month antituberculosis treatment,the SFCsofhole A and hole B were 41.0 (18.0-68.75) and 72.50 (42.25- 158.75),which were significantly lower than those before treatment (Z =- 3.213 and - 3.622,P ＜ 0.05 ).Ater 6-month antituberculosis treatment,the SFCs of hole A and hole B were 25.00 (5.75 - 52.25) and 55.00 (6.25 -122.50),which were significantly lower than those before and 2-month after antituberculosis treatment (vs.before treatment:Z =- 3.921 and - 3.923,P ＜ 0.05 ; vs.2-month antituberculosis treatment:Z =- 3.926 and - 3.884,P ＜ 0.05 ).Conclusions T-SPOT.TB assay possess satisfactory sensitivity and specificity in diagnosis of tuberculosis infection,especially for sputum-negative pulmonary tuberculosis.It is also of value in monitoring antituberculosis treatment.

Aim Through interfering the expression of survivin with short hairpin RNA(shRNA) technology,to investigate the effect of downregulation of survivin on cell apoptosis and chemosensitivity to docetaxel in breast cancer MCF-7 cells.Methods(1) Using MCF-7 cells as a model system,three groups were set up transfected with lipofectamine,RNAi control plasmid and survivin RNAi plasmid,respectively.The expression of survivin in MCF-7 cells was measured at transcriptional and translational level by using RT-PCR and Western blot methods.(2) The effect on the cell cycle and apoptosis was analyzed with flow cytometry.(3) The viability of cells applied with different doses of ducetaxel was determined by using the method of 3-[4,5-Dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide reduction(MTT method).Results(1) RT-PCR and Western blot demonstrated that survivin expression was significantly decreased by transfection with RNAi targeting plasmid;the expression proportion was reduced by nearly 75.4% and 79.8%(P

BACKGROUND:MicroRNAs are widely involved in the regulation of protein expression, and play a critical role in many physiological and pathological processes in the body. But microRNA expression profile in degenerative lumbar scoliosis is rarely reported and understood. OBJECTIVE:To compare the microRNA expression profile in the normal intervertebral disc and degenerative lumbar scoliosis and to identify degenerative lumbar scoliosis-specific microRNAs, folowed by functional validation. METHODS: Total RNA samples were extracted from the nucleus pulposus tissues of 57 patients with degenerative lumbar scoliosis as experimental groups and the normal nucleus pulposus tissues of 42 patients with lumbar fractures as control group. An initial screening of differentialy expressed microRNAs in the nucleus pulposus tissues by microRNA microarray was performed in 10 samples from each group. Subsequently, differentialy expressed microRNAs were validated using real-time quantitative RCR. The level of differentialy expressed microRNAs in the degenerative nucleus pulposus tissues was investigated. Then, the functional analysis of microRNAs in regulating colagen II expression was carried out. Western blot and luciferase reporter assay were also used to detect target genes. RESULTS AND CONCLUSION:We identified 22 microRNAs that were differentialy expressed (17 upregulated and 5 downregulated) in degenerative lumbar scoliosis patients compared with the controls. Folowing real-time quantitative RCR confirmation, miR-491-5p was significantly down-regulated in degenerative nucleus pulposus tissues in comparison with the controls. Moreover, its level was closely correlated with the pathological grading of disc degeneration. Overexpression of miR-491-5p promoted type II colagen expression in nucleus pulposus cels. Bioinformatics target prediction identified matrix metaloproteinase-9 as a putative target of miR-491-5p. Furthermore, luciferase reporter assays demonstrated that miR-491-5p directly targeted matrix metaloproteinase-9 and affected its protein expression in nucleus pulposus cels. These results show that the downregulation of miR-491-5p induces type II colagen loss by directly targeting matrix metaloproteinase-9, thereby resulting in degeneration of the intervertebral disc and degenerative lumbar scoliosis. This study also underscores the potential of miR-491-5p as a novel therapeutic target in degenerative lumbar scoliosis.

BACKGROUND:MicroRNAs (miRNAs) play an important role in a variety of diseases. Investigation of miRNA expression profile in degenerative lumbar scoliosis is beneficial for understanding its pathogenesis, providing a novel therapeutic target. Therefore, we tested the hypothesis that miRNAs promote intervertebral disc degeneration through the interleukin-10/STAT3 signaling pathway, a potential regulator of intervertebral disc degeneration.
OBJECTIVE:To compare the differentialy expressed miRNAs in the intervertebral disc tissues from patients with degenerative lumbar scoliosis and normal controls and to identify specific miRNAs in degenerative lumbar scoliosis folowed by functional validation.
METHODS: An initial screening of miRNA expression in nucleus pulposus tissues by miRNA Solexa Sequencing was performed in samples from 10 patients with degenerative lumbar scoliosis and 10 controls, respectively. Subsequently, differentialy expressed miRNAs were validated using qRT-PCR. The level of differentialy expressed miRNAs in degenerative nucleus pulposus tissues was investigated. Then, functional analysis of the miRNAs in regulating type II colagen expression was carried out. Western blot and luciferase reporter assay were used to further confirm the target gene.
RESULTS AND CONCLUSION: We identified 30 miRNAs that were differentialy expressed (16 upregulated and 14 downregulated) in patients with degenerative lumbar scoliosis compared with controls. Folowing qRT-PCR confirmation, Has-let-7f was significantly down-regulated in degenerative nucleus pulposus tissues as compared with controls. Moreover, its level was correlated with the severity of disc degeneration. Overexpression of Has-let-7f promoted type II colagen expression in nucleus pulposus cels. Knockout of interleukin-10 induced effects on nucleus pulposus cels similar to Has-let-7f. Bioinformatics target prediction identified interleukin-10 as a putative target of Has-let-7f. Furthermore, luciferase reporter assays demonstrated that Has-let-7f altered the expression of STAT3 and matrix metaloproteinase-2. These findings indicate that the downregulation of Has-let-7f induces type II colagen loss by directly targeting inleukin-10, thereby resulting in intervertebral disc degeneration and degenerative lumbar scoliosis. Has-let-7f is likely to be a novel therapeutic target for degenerative lumbar scoliosis.

Objective To analyze the therapeutic effects of different treatment modalities in patients with tongue squamous cell carcinoma.Methods A retrospective analysis was performed on the complete clinical and follow-up data of 132 patients with pathologically confirmed tongue squamous cell carcinoma,who were initially treated at the First Affiliated Hospital of Xinjiang Medical University from 2003 to 2011.The Kaplan-Meier method was used to calculate the overall survival (OS) rates for patients who received surgery alone (S),radiotherapy alone (R),surgery plus radiotherapy (S + R),chemotherapy plus surgery (C + S),chemotherapy plus radiotherapy (C + R),and surgery,radiotherapy,and chemotherapy (S + R + C).The OS was compared between these groups by log-rank test.Multivariate analysis was performed using the Cox proportional hazard model to establish independent treatment modalities as prognostic factors.Results The follow-up rate was 100％.The 3-year sample size was 94.The 3-year OS rate for all patients was 72.7％.The univariate analysis showed that among 70 stage Ⅰ and Ⅱ patients,the S,R,S + R,C + S,and S + R + C groups had 3-year OS rates of 86％,67％,97％,100％,and 82％,respectively (P =0.018) ;among 62 stage Ⅲ and Ⅳ patients,the S,R,S + R,C + S,C + R,and S + R + C groups had 3-year OS rates of 38％,14％,92％,40％,14％,and 67％,respectively (P =0.000).The multivariate analysis showed that S + R and S + R + C were independent prognostic factors (P =0.000 and 0.005).onclusions Surgery alone or combination therapy including surgery has a good therapeutic effect for stage Ⅰ-Ⅱ tongue squamous cell carcinoma,while S + R and S + R + C are better treatment modalities for stage Ⅲ-Ⅳ disease;however,advanced patients have a poor prognosis after being treated with R and C + R modalities.

BACKGROUNDConnexin (Cx), a transmembranous protein, makes up of gap junction, which induces the communication of cells and plays an important role in proliferation and differentiation of cells. The directly or indirectly reduced expression of connexin protein may induce a malignant tendency of cells. E-cadherin is a transmembranous glycoprotein and induces the adhesion of epitheliums and extracellular matrix. The reduced expression or dysfunction of E-cadherin will impair the ability of adhesion and make cells easy to be isolated. The aim of this study is to examine the expressions of Connexin 43 (Cx43) and E-cadherin in non-small cell lung cancer (NSCLC), and to analyze their correlation.

METHODSThe expressions of Cx43 and E-cadherin proteins were detected in 85 primary NSCLC samples by immunohistochemistry S-P method, and their correlation was then analyzed.

RESULTSThe expressions of Cx43 and E-cadherin were remarkably decreased in NSCLC tissues. Cx43 and E-cadherin expressions were related to cell differentiation, pTNM stage and lymphatic metastasis of NSCLC. The expression of Cx43 significantly correlated with the expression of E-cadherin.

CONCLUSIONSThe expressions of Cx43 and E-cadherin significantly decrease in NSCLC and they correlate with each other. It might be common affairs in carcinogenesis and development of NSCLC.