Sequence analysis of coding regions of KCNJ5 gene in unilateral adrenal hyperplasia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the prevalence of KCNJ5 gene missense mutations and their role in patients with unilateral adrenal hyperplasia (UAH).</p><p><b>METHODS</b>Fourteen UAH tissues were collected through surgical resection, and all the tissues were confirmed by pathology. Peripheral blood samples of the same patients were collected as control. The coding regions of the KCNJ5 were detected by direct DNA sequencing. Protein structure and function were predicted with specific software.</p><p><b>RESULTS</b>Three missense mutations were detected among the 14 patients with UAH, which included c.451G>C/A (p.G151R) (2/14), c.503T>G (p.L168R) (1/14), c.830T>A (p.S209T) (9/14). Among these, c.830T>A is a newly identified somatic mutation. Protein structure prediction showed that S209T lied in the second transmembrane domain, a conservation region of KCNJ5. S209 was also the phosphorylation site of PKC that is located in intracellular area.</p><p><b>CONCLUSION</b>Missense mutations of KCNJ5 gene may be associated with UAH. Protein structure prediction has suggested that KCNJ5 mutations may be associated with UAH.</p>

Association of GIRK4 gene polymorphisms with essential hypertension in obese ethnics Uygur from southern Xinjiang / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of polymorphisms of G protein-coupled inwardly-rectifying potassium channels 4 (GIRK4) gene with essential hypertension in ethnic Uygurs from southern Xinjiang.</p><p><b>METHODS</b>A total of 1194 (461 males and 733 females) Uygur residents aged 30 to 70 and with a body mass index (BMI) over 18.5 kg/m(2) were selected from Hetian region. All of the subjects have received questionnaire survey, physical examination, biochemical analysis and blood pressure measurement. They were divided into hypertensive group and normotensive group. Genotyping by the TaqMan polymerase chain reaction method was performed for 4 common single nucleotide polymorphisms (rs4937391, rs2604204, rs6590357 and rs1122149), and a case-control study was carried out.</p><p><b>RESULTS</b>Genotype distributions of rs4937391, rs2604204, rs6590357 and rs1122149 in both groups were in Hardy-Weinberg equilibrium (P> 0.05). The average systolic blood pressure of CC genotype of rs11221497 single nucleotide polymorphism (SNP)[(132.69± 26.9) mmHg)] was higher than the CG genotype [(127.4± 22.7) mmHg] and GG genotype [(121.1± 26.3) mmHg]. There has a significantly difference in average systolic and diastolic blood pressures between CC and GG genotypes (P< 0.05). A case-control association analysis revealed that the rs11221497 SNP was in association with essential hypertension with the dominant model [P< 0.05, OR= 0.67 (0.49-0.93)]. Haplotype analysis indicated that H6(C-G-C-G) was significantly more common in normotensive group than hypertensive group (P= 0.001).</p><p><b>CONCLUSION</b>The rs11221497 SNP of the GIRK4 gene is associated with essential hypertension in ethnic Uygur population in Xinjiang.</p>

Association of KCNJ5 gene missense mutations with aldosterone-producing adenoma and primary hyperaldosteronism / 中华内分泌代谢杂志

Objective This study is about to detect the KCNJ5 gene variations in aldosterone-producing adenoma (APA) with primary hyperaldosteronism (PA),and to investigate the association of the KCNJ5 gene missense mutations with APA and PA.Methods A total of 46 APA tumors and their clinical characteristics were collected from Hypertension Center of the People's Hospital of Xinjiang Uygur Autonomous Region,and all the tumors were confirmed by pathology.All the samples of the coding region segments of KCNJ5 were detected by PCR and direct DNA sequencing to compare the different missense mutations in the tumor cells and peripheral blood cells and to analyze the association between the genotype and phenotype.Results Three missense mutations were found in 46 patients with APA:c.451G ＞ C/A (p.G151R) (5/46),c.503T ＞ G (p.L168R) (4/46),c.830T ＞ A (p.S209T) (12/46).S209T,as an unreported somatic mutation was observed.There were no missense mutations detected in the peripheral blood.Sex,age,systolic blood pressure,diastolic blood pressure,duration of hypertension,plasma potassium,urine potassium,aldosterone,plasma renin activity,aldosterone,and plasma renin activity ratio,as well as the rate of positive family history were compared between the mutants and wild-types.Systolic blood pressure and plasma potassium level among G151 R,L168R,and S209T had statistical differences.Systolic blood pressure in G151R was significantly higher than the other two groups,while the plasma potassium level was significantly lower than the other groups.Conclusions Three missense mutations were found in 46 patients with APA.The subjects with mutations had more serious condition than those without mutations after comparing their clinical phenotype.Besides,other different subtypes may exist in PA.

Detection of signaling pathways related to nuclear factor-κB in patients with psoriasis vulgaris using PCR-array analysis / 中华皮肤科杂志

Objective To detect the expression of 84 signaling molecules associated with nuclear factor-κB in lesions of Uygur patients with psoriasis.Methods Skin specimens were obtained from the lesional and paralesional skin of eight Uygur patients with psoriasis.Total RNA was extracted from the skin specimens and reversely transcribed into cDNA.PCR-array analysis was carried out to quantify the expressions of 84 signaling molecules related to nuclear factor-κB.Genes with a fold-change ＞ or =2 were defined as differentially expressed.Results Among the 84 tested genes,22 showed upregulated expression,7 downregulated expression,and the remaining 54 genes showed no significant changes in psoriatic lesions compared with the normal skin.The strongest upregulation was observed in the gene expressions of Caspase recruitment domain family 11 (CARD11) and granulocyte-macrophage colony-stimulating factor 2 (CSF2),and the most significant downregulation in the gene expression of interleukin 10 (IL-10),tumor necrosis factor superfamily member 5 (CD40) and nuclear factor of kappa light polypeptide gene enhancer in B-cell inhibitor,epsilon (NFκBIE).Conclusion Multiple molecules involved in the NF-κB signaling pathway might be activated or inhibited in lesions of patients with psoriasis.

Demands on the technology of prevention and treatment of hypertension and evaluation on training effect among doctors in county and countryside hospitals of Xinjiang / 中国基层医药

Objective To analyze the demands and to evaluate training effect on the knowledge and technology of prevention and treatment about hypertension among doctors in county and countryside hospitals of Xinjiang.Methods 336 doctors were trained about knowledge of prevention and treatment of hypertension and technology of useful therapeutic regimen,and were investigated for demands of the knowledge and technology and self-evaluation of training effect by questionnaire.Results The knowledge of prevention and treatment about hypertension and the technology of useful therapeutic regimen were needed urgently by 94.8％ subjects.91.3％ trained doctors thought that the technology suited practically in county and countryside hospitals,and 96.7％ hospitals had condition of carrying out the technology.97.9％ trained doctors expected this kind of technology on hypertension prevention and treatment to be trained again.74.1％ trained doctors comprehended the technology,and the percent of doctor practically using the technology increased from pre-training 12.3％ to post training 62.1％.Conclusion The knowledge of prevention and treatment about hypertension and technology of useful therapeutic regimen were needed urgently and were comprehended with training for the most doctors in county and countryside hospitals of Xinjiang.

Analysis of the determinants of average length of stay of primary hospitals of Xinjiang province / 中国基层医药

ObjectiveTo explore the determinants of average length of stay of three county hospitals and eleven countryside hospitals of Xinjiang province.MethodsRelative data of the county and the countryside hospitals from 2009 to 2010 were collected,and descriptive analysis and rank sum test were employed to explore the determinants of average length of stay.ResultsThe average length of stay of the county hospital was longer than the countryside hospital,the average length of stay had significant differences between the gender,age,and the disease classfication.ConclusionThe average length of stay of the county hospitals and countryside hospitals had difference significantly.

Periventricular Leukomalacia Induced by Prenatal Exposure to Lipopolysaccharide Followed Perinatal Hypoxic Insults: An Animal Model for Perinatally Acquired Encephalopathy / 中国康复理论与实践

@#Objective To establish a new rat model of perinatal brain damage. Methods Wistar rats were randomized into 3 groups: lipopolysaccharide （LPS） plus hypoxia (H) group: 17 d pregnant rats exposure in utero to LPS followed by hypoxia; hypoxia (H)/ ischemia (I) group: postnatal day 7 (P7) pups ligated the right common carotid artery followed by exposure to hypoxia (8% O2 ) for 2 h; control group: P7 pups incised the anteriorl cervical skin only. The footprint analysis, compound muscle action potential (CMAP) and pathological observation were performed after 4 weeks. Results The left limb footprint repeatability of rat in HI and LPS plus H groups was poorer than that in control group （P<0.05）. The hindlimb quadriceps CMAP of rats in HI and LPS plus H groups showed that the wave amplitude was lower than that in control group （P<0.05）. The periventricular cells were irregular, and the periventricular leukomalacia was seen. The morphous of the neurocytes was irregular obviously, part of the nuclear membranes was broken down with the content leakage under transmission electron microscope. Conclusion The animal model for cerebral palsy has established, that mimics more the occurrence of this disease in human.

Effects of Recombinant Disintegrin rAdinbitor on FAK-Ras/MAPK Pathway in C6 Glioma Cells / 生物化学与生物物理进展

rAdinbitor was cloned from Gloydius blomhoffi brevicaudus in the laboratory. Previous researches had proved that rAdinbitor could inhibit proliferation of C6 glioma cells as well as promote their apoptosis. The molecular mechanism of rAdinbitor’s effects on C6 cells need to be further studied. rAdinbitor was expressed in E. coli BL21/pET23b-adinbitor and purified with Ni Sepharose 6 Fast Flow. The purified protein was confirmed by Western blotting. C6 cells were induced with fibronectin (FN). The effects of rAdinbitor with different concentrations on the expression of FAK, MEK1/2 and Caspase-3 as well as on activity of FAK and ERK1/2 in FN-induced C6 cells were studied by immunoblotting and immunoprecipitation. Results showed that rAdinbitor with different concentrations could obviously reduce the expression of FAK and MEK1/2, increase the expression of Caspase-3, as well as decrease ERK1/2 phosphorylation; besides 10 mg/L rAdinbitor, other concentrations’ rAdinbitor could inhibit FAK phosphorylation obviously. All those effects were dose-dependent. Results indicate that the effects of rAdinbitor on decreasing expression and activity of FAK and inhibiting Ras-MAPK signaling pathway play an important role in suppressing the proliferation of C6. Furthermore, the increase in Caspase-3 expression implies that the increase in apoptosis of C6 cells might be due to the suppression of rAdinbitor on the activity of ILK and PI-3K/Akt pathway.

Effects of fuzheng quxie granule on immune cells and cytokines in populations with respiratory viral infection / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To investigate the effect of fuzheng quxie granule (FQG) on immune cells and cytokines in populations with respiratory viral infection.</p><p><b>METHODS</b>Fifty-nine patients were randomly divided into 3 groups, that is, 19 patients treated with conventional western medicine (WM) plus FQG in the treated group, 19 patients treated with conventional western medicine alone in the WM group, and 21 patients treated with FQG alone in the TCM group. The levels of T lymphocyte subsets, interleukine-2,4,6,10 (IL-2, IL-4, IL-6, IL-10), tumor necrosis factor-alpha (TNF-alpha), interferon-gamma (INF-gamma) and Th1/Th2 were determined before treatment, and at the end of 1st and 2nd week of treatment respectively.</p><p><b>RESULTS</b>Before treatment, levels of TNF-alpha, IL-2, IL-6, IL-10 and INF-gamma in all patients were significantly higher than normal range (P < 0.05). After being treated for 1 week, the levels of serum TNF-alpha, IL-6, and IL-10 were significantly decreased in all groups (P < 0.05), serum IL-2 and INF-gamma decreased to the normal level in the WM group, but in the treated and the FQG group by the end of the 2nd week, the two indexes still remained at the rather higher level (P < 0.05). The ratio of Th1 and Th2 in the treated group and the FQG group increased significantly by the end of 2nd week, reached the level higher than that in the WM group and that before treatment (P < 0.05). No significant difference in, T lymphocytes subsets (CD3+ , CD4+ , CD8+) and percentage of B and NK cells before and after treatment was found in all the 3 groups.</p><p><b>CONCLUSION</b>FQG can positively regulate the immune function of patients with respiratory tract viral infection in certain degree.</p>