Objective To observe the clinical features and to identify γ-secretase gene mutations in a Chinese family with follicular occlusion triad (FOT).Methods Clinical evaluation was carried out in a family with FOT through field investigation.Peripheral blood samples were obtained from the family members and 100 unrelated healthy controls.DNA was extracted from the blood samples,and PCR was performed to amplify all the coding regions of PSEN1,PSENEN and NCSTN genes followed by DNA sequencing and comparative analysis.Results There were 14 members over 3 generations in this family,of whom,6 (4 males and 2 females) were affected by FOT.FOT was inherited in an autosomal dominant manner in this family.Clinical manifestations varied greatly among the 4 surviving affected members.DNA sequencing revealed a novel missense mutation,c.647A ＞ C (p.Q216P),in the exon 6 of NCSTN gene in the proband,which was cosegregated perfectly with affected,but not with unaffected,members in the family.The mutation was not found in any of the unrelated controls and had not been registered in the single nucleotide polymorphism (SNP) database in NCBI.Conclusions There is a novel heterozygous missense mutation,c.647A＞C in the exon 6 of NCSTN gene,which may be the molecular basis of pathogenesis of FOT in this family.

Objective To study the expression of CD27 and CD28 in antigen-specific CD4~+T cells in patients with pulmonary tuberculosis and healthy people, and understand the role of differentiated stages of CD4~+T cells in the pathogenesis of tuberculosis. Methods The expression of CD27 and CD28 was analyzed by CD4, CD154, CD27 and CD28 staining and flow cytometry. The distributions of CD27 and CD28 in antigen-specific CD4~+T cells were compared between patients with pulmonary tuberculosis and healthy controls. Results In patients of pulmonary tuberculosis, the frequencies of CD27 + CD28 + (early differentiated stage), CD27~- CD28~+ and CD27~+ CD28~- (intermediate differentiated stage), CD27~- CD28~-(fully differentiated stage) T cell subsets in antigen specific CD4~+T cells were (49. 55 ±6. 15)%, (26. 85 ±3. 87)% ,(7. 2 ± 1.37)% and ( 16. 35 ±3.97)%, respectively. In healthy controls, the frequencies of the four subsets in antigen-specific CD4~+T cells were ( 51.81 ± 4. 94 ) %, ( 29. 83 ± 5.33 ) %, ( 12. 65 ±4. 48)% and (5.7±2)%, respectively. The early differentiated CD4~+T cell was the major subset both in patients and healthy people, however, which had significant difference compared with the fully differentiated subset ( t = 2. 26, P < 0. 05 ). Conclusion The population frequency of the fully differentiated CD4~+T cells in patients with pulmonary tuberculosis was significantly higher than that in healthy people. This suggested that the differentiation degree of the antigen-specific CD4~+T cell might be related with pulmonary tuberculosis.

Objective To study population frequencies of CD4+,CD154+ T cell subset in patients with pulmonary tuberculosis and controls with positive PPD reaction. Methods Flow cytometry was used to detect the CD4+,CD154+ T cell subset, the population frequen-cies in patients with pulmonary tuberculosis and controls were compared. Results The expression level of CD154 was higher when PE-la-beled CD154 antibody was added during stimulation period, compared with CD154 labeling after stimulation(1.51±0. 36/0. 40±0. 13, P <0.05). The CD154+ cells were not detectable in fresh isolated CD4+ T cells, but significantly increased after stimulation with specific anti-gens. The population of CD4+, CD154+ T cell subset was significantly reduced in patients with active pulmonary tuberculosis, compared with healthy controls with PPD positive reaction(0. 72±0. 32/1.65±0. 76, P <0. 01). Conclusions The population of CD4± ,CD154± T cell subset was significantly reduced in patients with active pulmonary tuberculosis, which indicated that it may play an important role in the de-velopment of tuberculosis.

Objective To detect the signaling pathways involved in aldosterone (ALDO)induced mesangial cell (MC) proliferation. Methods The incorporation of 3H-thymidine (3H-TdR)and cell count were used as the measure of mesangial cell (MC) proliferation. Reactive oxygen species (ROS) production was determined by DCFDA fluorescence. Epidermal growth factor receptor (EGFR) activation was assayed by Western blotting. Results ALDO induced MC proliferation.When incubation with 100 nmol/L ALDO for 24 h, the 3H-TdR incorporation and cell number increased by 2.63- and 2.15-fold, respectively. Mineralocorticoid receptor (MR) antagonist EPLE almost completely blocked ALDO-induced MC proliferation (P<0.01), however, glucocorticoid receptor (GR) antagonist RU-486 had no effect on MC proliferation. ALDO increased intracellular ROS production in cultured human MCs. When incubation with ALDO (100 nmol/L) for 60 min,ROS production increased by 2.14-fold. ALDO-induced ROS generation was completely blocked by EPLE as well as mitochondrial complex Ⅰ inhibitor rotenone (P<0.01=, NADPH oxidase inhibitors diphenyleneiodonium sulfate (DPI) and apocynin inhibited ALDO-induced ROS production by 30%to 35% (P<0.05=. In contrast, inhibitors of other oxidant-producing enzymes, including allopurinol,indomethacin, nordihydroguiaretic acid, ketoconazole and G-nitro-L-arginine methyl ester (L-NAME)had no effect on ALDO-induced ROS production. Antioxidant N-acetyl-L-cysteine (NAC) and ROT inhibited ALDO-induced MC proliferation by 75% to 80%, whereas the inhibition of NADPH oxidase inhibitor apocynin and DPI on ALDO-induced MC proliferation was 25% to 30%. ALDO induced EGFR transactivation. When incubation with 100 nmol/L ALDO for 60 min, EGFR phosphorylation was increased by 4.95-fold, which was completely inhibited by EPLE and antioxidant NAC (P<0.01=. NAC and EGFR antagonist AG1478 significantly blocked ALDO-induced MC proliferation (P<0.01=. Conclusions ALDO-induced MC proliferation is mediated by ROS-dependent EGFR transactivation. ALDO-stimulated ROS is mainly generated by mitochondria.

AIM: To investigate the role of NF-?B/I?B signal pathway in the regulation of (cyclooxygenase-2) (COX-2) expression in human mesangial cells (HMC). METHODS: The PGE_2 concentration in supernatants of HMC was measured by radioimmunoassay. COX-2 mRNA and protein expression were determined by RT-PCR and Western blot. Electrophoretic mobility shift assay (EMSA) and Western blot were used to detect the activity of NF-?B and degradation of I?B. RESULTS: IL-1? significantly upregulated COX-2 expression and PGE_2 production in HMC. Significant up-regulation of NF-?B activation, nuclear translocation of p65 subunit, and degradation of I?B ? and I?B ? were observed in IL-1?-induced HMC. CONCLUSION: Expression of COX-2 in IL-1?-induced HMC is mediated by NF-?B/I?B signal pathway. [

AIM: To investigate the role of CD2AP and F-actin in the pathogenesis of puromycin aminonucleoside nephrosis in rats. METHODS: Puromycin aminonucleoside nephrosis was induced by single intraperitoneal injection of puromycin aminonucleoside (PAN). Renal tissues were studied at 3, 7, 10 and 20 days after PAN injection by means of immunohistochemistry, RT-PCR, Western blotting and fluorescence. RESULTS: At day 3, CD2AP expression in podocytes began to decrease, and significantly decreased at day 7 and 10 (P

Objective To study the clinical distribution of Listeria monocytogenes infection and the changes in drug resistance of Listeria monocytogenes isolated from inpatients during recent 3 years,and to increase the awareness of the situation and provide data for clinical antibiotics application.Methods The clinical distribution of 22 cases of neonatal Listeria infection and drug resistance changes of Listeria were retrospectively analyzed in Bayi Children's Hospital from Jan.2011 to Dec.2013.Results Neonates began to be attacked by Listeria monocytogenes of 0.5 hours to 5 days (an average of 17.45 hours) after birth.The average birth weight was (2 331.82 ± 677.64) g.There were 7 full term cases and 15 premature infants,13 cases with low birth wcight.The average hospitalization was (21.91 ± 17.64)days.The cure rate was 45.45％ (10/22 cases).All the mothers of 15 cases had fever in the third trimester of pregnancy and the temperature was 37.5-39.5 ℃.Infection rate with Listeria monocytogenes in neonatal was 0.03％ (2/7 137 cases),0.11％ (8/7 281 cases) and 0.19％ (12/6 394 cases) in 3 years,respectively.From 2011 to 2013,the sensitive rate of antimicrobial drugs with Listeria monocytogencs to commonly used antimicrobial was 82.72％,75.40％ and 50.66％,and the rate of drug resistance was 17.28％,17.50％ and 11.01％,respectively.During 3 years,the rates of drug resistance had no significant difference (x2 =3.65,P ＞ 0.05),and the sensitive rates had a trend of declination year by year(x2 =36.87,P ＜ 0.01).The sensitive rates and the drugs resistant rates of penicillin were 33.93％ (19/56 cases)and 51.79％ (29/56 cases),respectively.In 3 years,the drugs resistant rates of penicillin was 100.00％,40.00％,and 46.43％,and the sensitive rate was 0,60.00％,25.00％,respectively.There was a high sensitivity of Listeria monocytogenes to ampicillin,aminoglycoside,sugar peptide,tetracycline,macrolides,lincosamides,quinolone,sulfa and other classes (such as rifampicin).It showed the different drug resistance rates with 33.33％-100.00％ to oxacillin,penicillin G and nitrofurans.Conclusions These children has the characteristics of early-onset infection.The pregnant women and newborns are susceptible to high-risk groups.Infection rates with Listeria of neonatal and Listeria monocytogenes isolated from inpatients showed a trend of increase year by year.The cases were very sensitive to commonly used antimicrobial for killing Listeria monocytogenes.There was a trend of the declination for drug resistance to penicillin,but it was still at a higher level.The drugs resistance rate to oxacillin,penicillin G and nitrofurans were high.

Objective To study the expression and clinical significance of phosphorylated AKT (pAKT) and phosphatase and tensin homolog (PTEN) in colorectal carcinoma tissues.Methods The expression of pAKT and PTEN were detected by immunohistochemical SP method in 112 case of colorectal carcinomas tissue.Results The positive rates of pAKT and PTEN expression were 79.5 ％ (89/112) and 47.3 ％ (53/112) in colorectal cancerous tissues,respectively,which showed a statistically significance when compared with those in adjacent normal and adenoma tissues.The positive rate of pAKT expression was closely related with the invasive depth,clinical staging and lymph node metastasis of colorectal carcinomas.The positive expression of PTEN was also closely related with the invasive depth,degree of differentiation,clinical staging and lymph node metastasis of colorectal carcinomas.The expressions of pAKT and PTEN were negative correlaed.Conclusion The results showed that the expression of pAKT and PTEN were closely related with progression and metastasis of colorectal carcinomas,which may provide a new therapeutic target for colorectal carcinomas by blocking PTEN/PI3K/AKT signaling pathway.

OBJECTIVE: To observe whether curcumin could inhibit the accumulation of the collagen IV and fibronectin in the glomeruli in nephrotoxi sera nephritis rats. METHODS: Seventy-two healthy male Sprague-Dawley rats were divided into three groups, with 24 animals in each group. For normal control group, normal saline (0.5 ml/d) was injected through intra-caudal-vein for two days, and at the same time normal saline (0.5 ml/kg) was also daily administered intraperitoneally. For nephrotoxic sera nephritis group, nephrotoxic sera (0.5 ml/d) was injected through the tail vein for two days and dimethyl sulfoxide (0.5 ml/kg) was given intraperitoneally daily. For curcumin group, nephrotoxic sera was injected as above and meanwhile curcumin (50 mg.kg(-1).d(-1)) was administered intraperitoneally every day. Six rats in each group were killed on the 3rd, 7th, 14th and 28th day. Their renal tissue was fixed in 10% formalin for examining the expression of collagen IV and fibronectin. RESULTS: Minimal staining of collagen IV and fibronectin was detected in the basement membrane of normal control rats glomeruli. In the nephrotoxic sera nephritis rats and curcumin treated nephrotoxic sera nephritis rats, the accumulation of collagen IV and fibronectin was increased progressively, with significant difference in the accumulation of collagen IV (P<0.01) between these two groups at the same time points, while the significant difference in fibronectin accumulation (P<0.05) appeared only after the 7th days. CONCLUSION: Curcumin can reduce the accumulation of collagen IV and fibronectin in the glomeruli. Hence we postulated that curcumin might have beneficial effect for retarding glomerulosclerosis.

Objective To investigate the relationship between indoor radon concentration and air exchange rate for new residential building.Methods The indoor radon concentration and air exchange rate were measured in two new roughcast houses in Guangzhou and Hefei,respectively.The radon concentration was measured using radon instrument.The air exchange rate was measured by using tracer gas dilution method.Results The indoor radon concentrations measured in Guanzhou for two bedrooms in a 48-hour closed condition were 106 and 115 Bq/m3,the range of 17-181 and 6-224 Bq/m3.Air exchange rates were 0.16/h and 0.21/h.In Hefei,the twice measured values for one bedroom were 148 and 186 Bq/m3,the range of 8-224 and 14-290 Bq/m3,and air exchange rates were 0.14/h and 0.12/h.The indoor radon concentration exponentially decreased with the increase of air exchange rates.Conclusions Attention should be paid to the indoor radon pollution issue that may arise in new residential buildings of energy-saving design due to low air exchange rate.