Spondyloepiphyseal dysplasia(SED) includes a group of disorders that cause deformation of vertebrae and epiphyses following gene mutations.Its main clinical manifestations are short stature(with a disproportionately short-trunk),chest malformation and early-onset joint degeneration.These disorders are broadly categorized into two subtypes: congenita(SEDC) and tarda(SEDT).In the 2006 revision of the International Nosology and Classification of Genetic Skeletal Disorders,372 different conditions were listed,of which 215 were associated with one or more of 140 different genes.SEDC has consistently been shown to correlate with defects in the gene COL2A1 on the long arm of chromosome 12,whose product is needed to form normal type-Ⅱ collagen.The gene responsible for SEDT is SEDL,mapped to the short arm of the X chromosome(Xp22).This paper briefly reviews the progress in the studies of molecular genetics of SEDC,SEDT and other rare forms of SED,which might provide some practical help for genetic and prenatal diagnoses of SED.

Objective To evaluate the necessity and practicability of optimizing the management of type 2 diabetes mellitus in community after acquiring the peer education and the music therapy to their physical and mental issues and sleep problems. Methods Totally 179 type 2 diabetes mellitus patients who were followed up in Ruijin 2nd community health service center, the random numbers table used to randomize the patients into 2 groups:control group ( 97 cases) and experiment group ( 96 cases), the conventional treatment was used in control group. Besides the conventional treatment measures, the peer support was used by patients in the experiment group. In the second step, 45 patients were met the inclusion and the exclusion criteria, the random numbers table used to randomize the patients into 2 groups:the multiple intervention group (22 cases) and the conventional treatment group (23 cases), the multiple intervention included the music therapy, the peer support and the sleep health education, the conventional treatment included the conventional treatment and the sleep health education. The t test was used to compare the patient's HbA1c and other quantitative data in two groups of patients after the intervention. Results In the first stage of research, compared with the control group patients, the patients 'HbA1c in intervention group was significantly improvement after 6 months(7.26%±1.37%vs.7.53%±1.63%,t=2.148, P<0.05),besides, the intervention group individuals achieved significant improvement in diabetic self-management behaviors and self-efficacy after 6 months, and the improvement in self-efficacy of peer support group was significant different compared with routinely educated patients(104.09±16.40 vs.110.96± 13.86,t=2.120,P<0.05), and the PHQ-9(5.95 ± 4.02 vs.2.55 ± 1.67,t=2.630,P<0.05)between the two group had significant difference, while no improvement was found in PSQI, BMI, and WHR between intervention group and control group. Conclusions Peer support could improve the blood glucose metabolism in patients with type 2 diabetes. With the effect of yoga music and physical exercises, peer support can improve the quality of sleep and decrease depression in T2DM patients, who also have sleep disorders and mild depression.

AIM: To investigate the inhibitory effect of Chinese medicine Jinan injection(JA) on Lewis lung cancer (LLC) in mice. METHODS: The C 57 BL/6J mice with Lewis lung cancer(LLC) were divided into normal saline(NS), Jinan high dose (JAH), Jinan middle dose (JAM), Jinan low dose (JAL) and cyclophosphamide(CTX) groups. The body weight changes and inhibitory rate of LLC in each group were observed. In addition, flow cytometry and TUNEL were used to detect the anticancer mechanism of Jinan. RESULTS: The body weights were increased significantly in JA-treated groups vs CTX and the resistant rate was 45.79%, 40.90%, 32.48% and 98.96%, respectively. The apoptotic rate was 24.19%, 14.95% and 13.93% in JAH, JAM and JAL, respectively, and the Jinan induced apoptosis of LIC in a dose-dependent manner.CONCLUSION: Jinan injection inhibites the growth of LLC, and the apoptosis induction may be one of mechanisms that Jinan treates LLC in mice.

Objective To evaluate the homing molecules expression of CD49d, CCRg, CD62L on T lymphocytes in AIDS patients before and after treatment with HAART. Methods The study was per-formed in 42 cases of AIDS patients and 18 cases of healthy controls. The expression of CD49d, CCR9 and CD62L on T lymphocytes in AIDS patients and healthy controls were analyzed by flow cytometry. Software BD FACSDiva was used to calculate the percentage of expression. Results The number of peripheral CD4~+ T lymphocytes in group on-HAART was significantly increased compared with group pre-HAART (P<0.01) ; the frequency of CD3~+ CD49d~+, CD3~+CCR9~+, CD3~+CD62L~+, CD3~+CD4~+, CD4~+CD49d~+,CD4~+CCR9~+, CD4~+CD62L~+, CD8~+CD49d~+, CD8~+CD62L~+T lymphocyte in group pre-HAART were statistically decreased compared with group on-HAART and controls(P<0.05) ; The frequency of CD3~+ CD8~+ T lymphocytes was significantly increased compared with group on-HAART(P<0.05) ; the frequency of CD3~+ CCR9~+, CD8~+CCR9~+, CD8~+CD62L~+ T lymphocytes in group on-HAART were significantly de-creased than controls (P<0.001). Conclusion Not only the number of T lymphocytes sub-group, but the expression rate of gut homing molecules CD49d and CCR9, lymph node homing molecule CD62L on T lym-phocytes was changed in AIDS patients : the lower expression frequency of gut homing molecules CD49d and CCR9, lymph node homing molecule CD62L. Anti-virus therapy could partially reverse the immunologic pathological phenomena. CD49d, CCR9 and CD62L may be suggested to indicate the progression of AIDS and immunologic reeonstitution after HAART.

AIM: To investigate the effects of Chinese medicine, Jinan injection, on ultrastructure and mitochondria in cultured lung cancer cell lines. METHODS: The cultured lung cancer cell lines PG and PAa were used and divided into 4 groups: control (C), cisplatin (DDP), Jinan (JA) and Jinan in combination with cisplatin (DJ), respectively. The changes of morphology and mitochondria membrane potential, intracellular Ca~(2+) and pH in every group were observed by inverted microscope and electronic microscope as well as by using flow cytometry, staining by rhodamine, Fluo-3 and BCECF, respectively. RESULTS: Degeneration cells showed chromatin condensation and peripheral congregation. In cytoplasm autophage lysosome increased and myelinoid body was seen easily. In mitochondria structure, where the space between the inner and outer membranes of these organelles expanded as the matrix was compressed. The electron-dense or swelled was observed as vacuole degeneration and its matrix showed electron-lucent. Compared to control, mitochondria membrane potential increased in every group after 24 h and 48 h treatment. DDP increased intracellular calcium ion in PG cells, however, in PAa cells, JA and DJ decreased it. Intracellular pH got lower at 24 h and higher at 48 h in PG and PAa cells. There were significance in every group vs control in PG and PAa by statistic t-test (P

Objective To investigate the changes and clinical significance of helper T cells (Th)22,Th17,Th1 and regulatory T cells (Treg) in the peripheral blood before and after antiretroviral treatment (ART) of human immunodeficiency virus (HIV)-1 infected patients.Methods Forty HIV-infected patients were recruited into this study,and 30 healthy subjects were recruited as controls.Peripheral blood of the patients was collected at baseline and after 3 months of ART treatment.The frequencies of Th22,Th17,Th1 and Treg were detected by flow cytometry.Tests for homogeneity of variance and paired t test for comparison was adopted.Spearman rank test was used for correlation analysis.Results The frequencies of peripheral Th22,Th17,Th1 and Treg from HIV-infected patients before treatment were significantly decreased compared to the healthy controls ([0.59± 0.47] ％ vs [1.65 ± 0.56] ％ [t =8.544,P＜0.01],[4.46±1.84]％ vs [6.98±1.86]％[t=5.619,P＜0.01],and [16.75±6.72]％ vs [22.77±6.87]％; [t=5.311,P＜0.01].The frequencies of peripheral Th22 and Th17 after 3 months of treatment were significantly higher than those at baseline ([1.60± 1.10] ％ [t=5.268,P＜0.01] and [6.33±2.64]％ [t=3.663,P＜0.01] and no difference from those of healthy controls (t=1.783 and 1.143,respectively; both P＞0.05).However,the Th1 frequency showed no difference compared to the baseline.The frequency of Treg in the HIV infected patients was significantly increased compared with the healthy controls ([10.76±3.76]％ vs [7.01±1.88]％,t=5.003,P＜0.01).However,it gradually decreased along with the ART treatment ([9.22±2.56]％ after 2 months; [8.57± 2.36]％ after 3 months),which was still higher than that of healthy controls (t=2.984,P=0.004).The ratios of Th22/Treg,Th17/Treg and Th1/Treg of the HIV-infected patients were significantly decreased in comparison with the healthy controls (0.05±0.03 vs 0.25±0.10,t=11.69,P＜0.01; 0.46 ± 0.27 vs 1.07±0.42,t=7.728,P＜0.01; 1.56±0.89 vs 3.37± 1.02,t=7.052,P＜0.01),and those were significantly increased after 3 months of treatment (0.17±0.10[t=6.852,P＜0.01],0.81±0.46[t=4.253,P＜0.01] and 2.31±1.27[t=3.030,P＜0.01]).Correlation analysis showed that the ratio of Th17/Treg of the HIV-infected patients was positively correlated with the peripheral CD4+ T cell count (r=0.312 5,P=0.049 6),and negatively correlated with HIV RNA viral load (r=-0.474 7,P=0.002 0).The ratio of Th1/Treg of the HIV-infected patients was positively correlated with the peripheral CD4+ T cell count (r=0.333 5,P=0.035 5).Conclusions Th22,Th17,Th1 and Treg cells in the peripheral blood of HIV-infected patients are closely related to CD4+ T cell count.ART can partially recover immune imbalance,and help to rebuild immune function of HIV-infected patients.

Objective To develop an ELISA(Enzyme-Linked Immunosorbent Assay)diagnostic kit for early rapid detection of sarum anti-EV71 antibody and evaluate its clinical application value.Methods Recombinant protein VP1 of EV71 were prepared and purified as an immobilized antigen for establishment of an indirect ELISA for detection of serum anti-EV71 IgM and anti-EV71 IgG.Compared with RT-PCR.isolation of EV71 and micro-neutralizing assay.the clinical application value of anti-EV71 IgM and anti-EV71 ISG in the diagnosis of EV71 disease was evaluated.Results In comparison with RT-PCR.the sensitivity,specificity,positive predictive value and negative predictive value of anti-EV71 IgM antibody were 83%,85%,81%and 87%,respectively.The sensitivity,specificity,positive predictive value and negative predictive value of anti-EV71 IgG antibody were 72%,74%,68%and 77%.respectively.Compared with viral isolation assay.the sensitivity and specificity of anti-EV71 IgM antibody were 85%and 97%,respectively.The sensitivity and specificity of anti-EV71 IsG antibody were 75%and 77%,respectively.In addition.the titers of anti-EV71 IgG antibody were significantly correlated with the titers of neutralizing antibody to EV71 by linear regression analysis(r=0.72,P＜0.05).Finally,the serum titers of anti-IgG from patients with EV71 associated hand food and mouth disease at convalescent stage exhibited significantly higher than that of the same patients at acute stage(P＜0.01),but the titers of anti-IgM had no significant difference(P＞0.05).Conclusions With VP1 recombinant protein used as an immobilized antigen,an indirect ELISA diagnostic kit was successfully develooed for detection of serum anti-human EV71 IgM and anti-human EV71 IgG antibodies.

ObjectiveTo evaluate the IL-17 expression in HIV/tuberculosis-coinfected patients and its role in the pathogenesis of this coinfection.MethodsFifty-four HIV infected patients were divided into three groups:simple HIV infected group,HIV with latent tuberculosis infection (HIV+ LTBI) group and HIV coinfected with active tuberculosis (HIV+ ATB) group.The whole blood intracellular cytokine staining was performed and samples were then detected by BD FACSCanto.The expressions of CD4+ IL-17+ T cells and CD4+ IFNγ+ T cells were analyzed using FACSDiva software.Comparison between groups was done by independent sample t test.ResultsThe CD4+ T cell count and viral load among these three groups were comparable.There were no significant difference of the expression of CD4+ IL-17+ T cells between simple HIV infected group and HIV+ LTBI group (1.40 ± 1.01) ％ vs (1.29±0.86) ％,(t=0.336,P＞0.05),but both of these two groups were much higher than HIV+ATB group (t=3.680,t=2.516,P＜0.05).There were no significant differences of the expression of CD4+ IFNγ+ T cells among these three groups [(32.8±24.0)％ vs (40.3±1 21.9) ％ vs (46.1±31.2)％,(t=-0.939,t=-1.602,t=-0.646,P＞0.05)].ConclusionThe Th17 response is down-regulated in HIV/tuberculosis-coinfected patients,which may play an important antitubercular role in the pathogenesis of coinfection.

Objective To investigate the phenotype, frequency of Th17 cells and the association between Th17 cells and viral clearance in patients with H1N1 influenza A. Methods Three groups including 70 confirmed patients with H1N1 influenza A, 30 patients with seasonal influenza as well as 68 healthy subjects as controls were enrolled in this study. The percentages of Th1, Th2, Treg and Th17 lymphocytes in the peripheral blood were determined by intracellular staining and flow cytometry. The levels of interferon-γ (IFN-γ), transforming growth factor-beta (TGF-β),interleukin-6 (IL-6) in plasma and supernatant of the peripheral blood mononuclear cell (PBMC)culture were quantified by enzyme-linked immunosorbent assay (ELISA). Viral load in nasopharyngeal swabs was detected by real time quantitative reverse transcription-polymerase chain reaction (RTPCR). Data were analyzed by one way ANOVA and liner correlation analysis. Results The percentage of Th17 cells in H1N1 influenza A patients was (2. 740±0. 210)%, which the percentage of was significantly decreased compared to healthy subjects (3. 443 ±0. 154)% and seasonal influenza patients (3. 443±0. 277) % (F=4. 242, P＜0. 05); while the percentage of Thl, Th2 and Treg cells were not significantly different among these groups. Moreover, the TGF-β level in plasma of H1N1 influenza A patients was (10±8) ng/mL, which was significantly lower than healthy subjects (43 ±32 ) ng/mL and seasonal influenza patient ( 18 ± 10) ng/mL ( F= 17.72, P＜0.01 ). The TGF-β level in the supernatant of PBMC culture of H1N1 influenza A patients was (782 ± 736) pg/mL, which was significantly lower than healthy subjects (1462±315) pg/mL and seasonal influenza patients (1481 ±348) pg/mL (F=5. 730, P＜0.01). Additionally, the viral clearance period was inversely correlated with the percentage of Th17 cells (r=-0.38, P=0.02). Conclusions The proportion of Th17 cells in patients with H1N1 influenza A is significantly decreased, which is closely correlated with the level of TGF-β. This decrease may results in the delayed viral clearance.

With DQOL (diabetes quality of life) scale, quality of life was evaluated before and after diabetic education in 136 type 2 diabetic patients. The Cronbach′s ? of DQOL scale was from 0.809 to 0.849, suggesting that the DQOL scale did effectively reflect the life quality of type 2 diabetic patients.