Objective To explore the reliability and validity of the simplified Chinese version of the Oswestry disability index (SCODI) and the curative effect of community-based rehabilitation for patients with lumbar disc herniation (LDH). Methods 165 patients with LDH received community-based rehabilitation according to the severity of their LDH. Before treatment and after 3 months, the SCODI, the Roland-Morris disability questionnaire (RMDQ) and a visual analogue scale (VAS) were used to evaluate the effects. The reliability and validity of the SCODI was thus tested. The reliability analysis included internal consistency as measured by Cronbach's coefficient,and test-retest reliability as measured by an interclass correlation coefficient (ICC). The validity analysis used Spearman's correlation coefficient (for concurrent efficacy validity) and factor analysis (for construct validity). The correlation between SCODI, RMDQ and VAS results was analyzed. Results There was statistically significant functional improvement and better QOL in LDH patients after community-based rehabilitation. The SCODI showed good validity and reliability. There was significant correlation among the SCODI, RMDQ and VAS results. Conclusion Community-based rehabilitation can significantly alleviate symptoms for patients with LDH and improve their QOL.The SCODI is a reliable and valid instrument for measuring the curative effect of community-based rehabilitation on patients with LDH.

Objective To observe the therapeutic effect of cervical intraepithelial neoplasia Ⅱ( CINⅡ) associated high risk HPV with LEEP combined interferon and recombinant human interleukin -2.Methods One hundred and sixty patients with CIN Ⅱwere selected during Feb.2012 and Feb.2013.The patients were random-ly divided into four groups(40 patients in each group):the control group(LEEP),group A(LEEP united with in-terferon),group B(LEEP united with recombinant human interleukin -2)and group C(LEEP united with inter-feron and recombinant human interleukin -2).TCT,colposcope examination and HPV were reviewed ,and the curative effects , postoperative complications and negative conversion rate of HPV -DNA were compared after three and six months of the treatment .Results The cure rate and negative conversion rate of HPV -DNA in group C were 92.5%and 95%,which were significantly higher than others groups ( P<0.05) after six months of treatment .The time of wound healing ,duration of vaginal discharge and bleeding time in group C were also shorter than others groups(P<0.05).Conclusion The therapeutic effect of LEEP combined with interferon and recom-binant human interleukin -2 is superior to LEEP and LEEP united interferon or interleukin -2,which is not only shorter healing time ,but also fewer complications .The therapeutic method is worthy to be applied widely .

Background To investigate the expression of the early growth response gene-1 ( Egr-1 ) mRNA after focal cerebral ischemia / reperfusion in rats.Methods Ten healthy male SD rats weighing 200 ～ 250 g were used to create model of focal cerebral ischemia. The expression of Egr-1 after focal cerebral ischemia/reperfusion in rats was determined using in situ hybridization and RT-PCR.Results (1) The result of the in situ hybridization: A trace amount of Egr-1 mRNA expressed in the neurons and the glial cells in the sham operated group. The expression of Egr-1 mRNA at the ischemic side increased dramatically following ischemia and reached peaks after 4 hours' reperfusion. Egr-1 expression started to subside following 22 hours' reperfusion and further decreased following 166 hours' reperfusion, which was still significantly higher than that in the sham operated group. (2) The result of RT-PCR: The expression of Egr-1 mRNA at the ischemic side was significantly higher than that in the sham operated group at all time points after ischemia/reperfusion in the rats(P ＜0. 01). Expression of Egr-1 increased 2 h after ischemia and reached the peak 4 h following reperfusion, and then decreased dramatically at 46 h after reperfusion which was still higher than that in the sham operated group (P ＜ 0. 01). As the ischemia/reperfusion period prolonged, the expression of Egr-1 mRNA increased gradually, but still detectable even 166 h following reperfusion. The expression of Egr-1 was significantly higher than that in the sham operated group at all time points (P ＜0. 01).Conclusions The expression of Egr-1 mRNA increase in the neurons and the glial cells after ischemia/reperfusion, which may have protective effects on ischemic brain tissues.

Objective To perform mutation analysis of survival motor neuron gene 1 (SMN1 in two spinal muscular atrophy (SMA) patients and their parents to evaluate the effects of the two SMN1 gene mutations on the transcript levels of the gene and preliminarily predict their effects on the structure and function of SMN protein.Methods Mutation analysis of SMN1 gene was carried out by multiplex ligationdependent probe amplification,reverse transcript-polymerase chain reaction (RT-PCR) and cloning sequencing.Transmission of the mutations was confirmed by the mutation analysis in patients' parents.The full-length SMN1 (SMN1-fl) transcript levels of the patients carrying these subtle mutations were detected using quantitative RT-PCR.Results The two patients were diagnosed as SMA Ⅱ and SMA Ⅲ.They carried p.Val19GlyfsX21 and p.Ala2Gly SMN1 mutations in SMN1 gene,respectively.Both of the two mutations were originated from their fathers.Compared with the healthy individuals (23.5 ± 4.9),the two patients had a significant reduction in the level of SMN1-fl transcripts (t =3.322,P =0.011 (p.Ala2Gly) ;t =6.964,P =0.000 (p.Val19GlyfsX21)).However,compared with the healthy carriers (14.1 ±4.5),the patient with p.Ala2Gly mutation had no significant reduction in the level of SMN1-fl transcripts (13.9 ±3.6,t =0.058,P =0.955) ; however,the patient with p.Val19GlyfsX21 mutation had a significant reduction (4.9± 2.4,t =3.725,P =0.004).Conclusions Two SMN1 gene mutations are identified in our study.The mutation p.Val19GlyfsX21 is a novel mutation and p.Ala2Gly is firstly reported in Chinese SMA patients.p.Val19GlyfsX21 may possibly lead to decreased SMN1-fl mRNA by nonsense-mediated messenger RNA decay,however,p.Ala2Gly has no obvious effects on the amount of the SMN1-fl transcripts,indicating that its deleterious effect may be occurring at SMN protein level or the function of SMN protein.

Objective To explore the accuracy of three dimensional speckle tracking imaging (3D-STI) in quantitative coronary evaluation of (CHD) patients' left ventricular global systolic function.Methods Sixty-eight CHD patients were divided into three groups according to the coronary artery angiography (CAG) results:32 cases in severe stenosis group,23 cases in moderate stenosis group,and 13 cases in mild stenosis group.Thirty gender-age-matched healthy subjects(control group) were enrolled in this study.All patients underwent 2D-echocardiography and real-time three-dimensional echocardiography (3DE).The global longitudinal strain(GLS),global radial strain(GRS),global circumferential strain(GCS),global area strain (GAS),global area strain rate (GASrate) and 3D global LV strain (3D-Strain) were analyzed using 3D-STI.Correlation between strain measurements and left ventricular ejection fraction (LVEF) by simpson method,3D-LVEF by 3DE were assessed using linear regression analysis.Results All 3D-STI parameters in the severe stenosis group were significant decreased compared with the other groups.GLS,GRS,GCS,GAS,3D-Strain of moderate stenosis group shown more significant decrease than both mild stenosis group and control group (P ＜ 0.05).Strong correlations were demonstrated in all 3D-STI parameters between 3D-LVEF and LVEF.The strongest correlation was observed between GAS with 3D-LVEF in severe stenosis group(r =-0.910,P ＜0.05).Intraobserver and interobserver reliability of GAS was better than other parameters.Conclusions Global strain of 3D-STI can quantitatively evaluate the global LV function in CHD patients,and GAS is more sensitive and reproducible than other parameters.

Aged ; Aged, 80 and over ; Antibiotics, Antitubercular ; pharmacology ; Coal Mining ; DNA Gyrase ; genetics ; Drug Resistance, Bacterial ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Mycobacterium tuberculosis ; drug effects ; genetics ; Pneumoconiosis ; complications ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Quinolones ; pharmacology ; Tuberculosis, Pulmonary ; complications ; microbiology

?AIM: To study the association of the single nucleotide polymorphism ( SNP) rs1157699 in the calcitonin receptor-like receptor ( CRLR ) gene with primary angle closure ( PAC) in a Han Chinese population.?METHODS: All samples, involved 232 PAC cases and 306 controls, were obtained from an epidemiologic survey conducted in Funing, Jiangsu Province, China. Genotyping were carried out by TaqMan-MGB probe using the real time quantitative polymerase chain reaction system to study the relationship between SNP of rs1157699 in CRLR gene and PAC.?RESULTS: The prevalence of CRLRrs1157699 genotype was 67.4%, 30.0%, 2.6% for CC, CT, TT in cases, and 71.3%, 27.0%, 1.7% in controls respectively.There was no difference between the two groups in the distribution of genotype and allele frequencies of rs1157699 (P>0.05).?CONCLUSION:Our results do not support a significant role for rs1157699 in CRLR with PAC.

Objective To analyze the distribution of common chromosomal karyotypes of patients with Turner syndrome (TS), and to explore the correlation between the age and height standard deviation scores (HSDS) on diagnosis.Methods Retrospective investigation was performed for the data of age and HSDS on diagnosis in 273 TS girls(≤ 18.0 years old)diagnosed by chromosomal karyotypes.The main statistical methods were analyzed with t-test and Pearson correlation test by using the SPSS 18.0 statistical software.Results (1) There were 4 kinds of common chromosomal karyotypes in the TS :45, X (87/273 cases,31.9％),46, X, i (Xq) (43/273 cases, 15.7％) ,45, X/46, X, i (Xq) (36/273 cases, 13.2％) and 45, X/46, XX (23/273 cases, 8.4％), respectively, the adolescent TS all had delayed puberty.For the cases with 45, X karyotypes ,3 cases presented mental retardation and 2 cases with organs deformity.(2)The patients with 45 ,X/46,X,i(Xq) karyotypes or with 46,X,i(Xq) karyotypes had the maximum(12.56 age) or the minimum(9.70 age) mean age on diagnosis, respectively, there was a significant difference between 2 groups (t =3.019, P =0.004).The maximum deviation from normal height was found in the patients with karyotypes of 46, X,i (Xq) (HSDS =-4.04), and the minimum deviation was in the patients with karyotypes of 45,X/46, XX (HSDS =-3.16), and there was a significant difference between 2 groups (t =-2.95, P =0.004).(3) More than 75.7％ of TS patients was diagnosed when their heights deviated above 3 SD,and their mean age on diagnosis was 12.10 age,which was 3 years later than those patients within 2 SD.(4) There was a significant negative correlation between the age and HSDS on diagnosis in the groups of common chromosomal karyotypes[45,X、46,X,i(Xq) and 45,X/46,XX] (r =-0.551,-0.560,-0.622,all P ＜ 0.01), except for the group with the 45, X/46, X, i (Xq).Conclusions (1) In this study, the consti-tuent ratios of these 4 common chromosomal karyotypes were different from those in Europe and America's.(2)Patients with 45 ,X may have more severe symptoms than others.(3)The mean age on diagnosis was at least 3.0 years earlier when considered HSDS below-2.00 as an indicator for chromosomal karyotype screening,which would facilitate earlier diagnosis.

OBJECTIVETo diagnose and detect the molecular defect in a suspected patient with Prader-Willi syndrome.

METHODSGenetic diagnosis and molecular genetic analysis were performed by using chromosome karyotype analysis, methylation-specific PCR (MS-PCR), and linkage analysis using short tandem repeat (STR).

RESULTSThe karyotype of the patient was 45, XX, der(5), t(5;15)(q35;q13), -15, and the parents were 46, XY and 46, XX, respectively, implying that the unbalanced translocation t(5;15) in the patient was de novo. Furthermore, MS-PCR and STR linkage analysis confirmed that the patient's 15q11-13 deletion was resulted from unbalanced translocation on paternal chromosome 15.

CONCLUSIONGenetic analysis should be applied in suspected patients with Prader-Willi syndrome to confirm the diagnosis. Cytogenetic and molecular techniques would be helpful in clinical diagnosis, genetic counseling and prenatal diagnosis.

Chromosomes, Human, Pair 15 ; genetics ; Chromosomes, Human, Pair 5 ; genetics ; DNA Methylation ; Female ; Genetic Linkage ; Humans ; Infant ; Karyotyping ; Male ; Microsatellite Repeats ; genetics ; Polymerase Chain Reaction ; Prader-Willi Syndrome ; diagnosis ; genetics ; pathology ; physiopathology ; Translocation, Genetic ; genetics

Chronic myeloid leukemia (CML) is characterized by the accumulation of active BCR-ABL protein.Imatinib is the first-line treatment of CML;however,many patients are resistant to this drug.In this study,we aimed to compare the differences in expression patterns and functions of time-series genes in imatinib-resistant CML cells under different drug treatments.GSE24946 was downloaded from the GEO database,which included 17 samples of K562-r cells with (n=12) or without drug administration (n=5).Three drug treatment groups were considered for this study:arsenic trioxide (ATO),AMN107,and ATO+AMN107.Each group had one sample at each time point (3,12,24,and 48 h).Time-series genes with a ratio of standard deviation/average (coefficient of variation) ＞0.15 were screened,and their expression patterns were revealed based on Short Time-series Expression Miner (STEM).Then,the functional enrichment analysis of time-series genes in each group was performed using DAVID,and the genes enriched in the top ten functional categories were extracted to detect their expression patterns.Different time-series genes were identified in the three groups,and most of them were enriched in the ribosome and oxidative phosphorylation pathways.Time-series genes in the three treatment groups had different expression patterns and functions.Time-series genes in the ATO group (e.g.CCNA2 and DAB2)were significantly associated with cell adhesion,those in the AMN107 group were related to cellular carbohydrate metabolic process,while those in the ATO+AMN107 group (e.g.AP2M1) were significantly related to cell proliferation and antigen processing.In imatinib-resistant CML cells,ATO could influence genes related to cell adhesion,AMN107 might affect genes involved in cellular carbohydrate metabolism,and the combination therapy might regulate genes involved in cell proliferation.