By using Person's separating blood ghost method basically, Na~+-K~+ ATP ase and Ca~(2+)-Mg~(2+) ATPase activties of human erythrocyte membrane were studied. The comparison was made between 11 G6PD deficient subjects and 11 healthy control persons. The results showed that both enzyme activities as well as ouabain inhibition rate were decreased in G6PD deficient individuals (P

Objective To improve the detection of G6PD heterozygotes in female patients by the optimum experimental factors of G6PD/6PGD specific value assay.Methods (1)Identifying the mutations of G6PD gene with the use of amplified refractory mutation system (ARMS).(2)Measuring the G6PD/6PGD specific value.Results According to the data analysed by statistics and ROC curve, the optimum experimental factors included that the incubation temperature was 37℃,the substrate concentrations were 0.78 mmol/L G6PNa2 and 0.195mmol/L NADP+, the reaction time was 10min.Conclusion The optimum experimental factors of G6PD/6PGD specific value assay may be used to improve the detection rate of G6PD heterozygotes in female patients.

Hoxa3-Pax1/Pax9-Eya1-Six1/4 regulatory pathway seems to be operating during forming the bilateral parathyroid/thymus common primordial in early embryonic development.The specification of the parathyroid domain in the parathyroid/thymus primordial is regulated through a Shh-Tbx1-Gcm2 pathway.Gcm2 also may play roles in later steps of parathyroid development,including CaSR and PTH gene expression.MafB and Gcm2 interact with each other and synergistically activate PTH transcription.Genetic basis and the etiology of some hypoparathyroid disorders in man are involved defects in transcription factors that include GCMB,GATA3,Tbxl,SOX3 and GNA11.This marker expression in thymus and parathyroid primordium includes HoxA3,Pax1,Eya1,and Six1;and expression of parathyroid cell-like cells includes Gcm2,CaSR,and PTH.These expressions may serve as markers of stem cell differentiation into parathyroid cell-like cells.

Influenza virus is a virus causing upper respiratory tract infection disease with high morbidity and mortality. China is considered as an area with high rate of influenza morbidity. Prevention and treatment of influenza currently rely on vaccines and antiviral agents in the world. In addition, traditional Chinese medicines also have been used in clinical for influenza therapy. In vitro anti-influenza virus activities of 10 traditional Chinese medicines were studied by cytopathic effect (CPE). Qingre Jiedu oral liquid (factory H) had strong antiviral activity against influenza virus A/Guangdong Luohu/219/2006 (H1N1); Yinhuang oral liquid had strong antiviral activity against influenza virus A/Hanfang/359/95 and A/Yuefang/243/72 (H3N2). Qingkailing oral liquid (factory G) had strong antiviral activity against influenza virus A/Jifang/15/90 (H3N2). Qingre Jiedu oral liquid (factory H) had strong antiviral activity against influenza virus A/Jifang/15/90, A/Yuefang/243/72 (H3N2) and virus B.

Ribavirin is a broad-spectrum inhibitor against several unrelated DNA or RNA viruses in vitro and in vivo. In this paper the in vitro and in vivo study of anti-influenza virus activity of ribavirin (RBV) injection had been reported. The in vitro antiviral activity of ribavirin injection against influenza virus A and B was studied by CPE. The in vivo protective action of ribavirin injection against influenza A/FM/1/47(H1N1) mouse adapted strain infected mouse was studied with mouse model. The results showed ribavirin injection has strong inhibitory activity against 7 virus strains tested in vitro. Ribavirin injection could significantly increase virus infected mouse survival rate and survival days and improve lung pathogen and lung index.

Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis. Methods: In our study, from 1994 to 2005, using a different combination of 5 methods, including SRY gene amplification, multiplex PCR, multiplex Fluorescence PCR capillary electrophoresis, multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR), 36 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis. Results: Fourteen out of 21 male fetuses were found to be affected and respective pregnancies were terminated. A combined diagnostic rate of 83% was achieved for 30 cases with deletions, duplications, and non-deletion mutations after tested by more than one method. Conclusion: Using a combined method, we can diagnoses patients and carriers in DMD families, and perform prenatal diagnosis for the risk fetus. MLPA provides a simple, rapid and accurate method for deletions and duplications of all the 79 DMD exons. MLPA method for DMD diagnosis is the first report in our country.

Objective To describe and analyze the clinical and laboratory findings in a group of children diagnosed with scleroderma at Beijing Children's Hospital in the last 10 years.Methods The clinical charts of children with scleroderma in the Rheumatology Department at Beijing Children's Hospital,between January 2002 and October 2013 were reviewed.All of them fulfilled the classification criteria for juvenile sclerodema,both systemic scleroderma (SSc) and localized scleroderma (LS) types.T test was used for comparison between the two groups.Results Forty-six patients were enrolled and were diagnosed as scleroderma.Seven patients(15％) suffered from SSc and 39 patients(85％) were LS.Mean age-at-onset of LS was (5±4) years old.The male to female ratio was 1.2:1.Mean age-at-onset of SSc was (9±4) years old.All patients were female.The lesions found in LS were linear scleroderma (54％),mixed morphea (36％),generalized morphea (8％),and panclerotic morphea (3％).Twenty-six patients had internal organs involved.Three patients with nerve system involvement was found in en coup de sabre (ECDS).Systemic involvement included lung and gastrointestinal tract primarily.The heart,nerve system,kidney,eye involvement was also found.One girl had SSc combined with renal crisis.Antinuclear antibodies were positive in 77％ of LS patients and 100％ of SSc patients.Rheumatic factor was positive in 6 patients (15％),5 patients had joint involvement.Tests for anti-Scl-70 antibodies were positive in 5 (71％) patients with SSc.The most common drugs used were methotrexate and prednisone.Conclusion In this study,LS is common in children.SSc is more severe than LS.Multi-center and large sample study is needed to know the characteristics of juvenile scleroderma in China.

Cycloheximide (CHX) inhibits protein synthesis in most eukaryotic cells and it is a well-known tool commonly used in biochemical research. In this paper, the antiviral spectrum of CHX against several DNA and RNA viruses have been evaluated. CHX showed strong inhibitory activities against several RNA viruses such as HIV-1, influenza viruses, coxsackie B virus, enterovirus (EV71) and several DNA viruses such as HSV and HCMV. Especially the strong inhibitory activities of CHX against coxsackie B virus and enterovirus caught our attention, since effective drugs available in clinic are limited. The SAR of CHX derivatives also has been discussed in the paper. The hydroxyl group at C-2' and carbonyl group at C-2" of CHX are essential for its antiviral activity. And modification to these groups results its derivatives' antiviral activities reduced or lost.

Objective To investigate the clinical significance of Wilm tumor gene (WT1) expression in breast cancer. Methods Real-time quantitative reverse transcriptase polymerase chain reaction (RQ-RT-PCR) method was established for detecting WT1 and GAPDH mRNA expression levels in 110 cases of various breast tumor and the corresponding adjacent normal breast tissue. Normalized WT1 expression level (WT1_N)was determined as a ratio between WT1 and GAPDH for each case. The tumor tissue WT1_N over the normaltissue WT1_N of the same case was calculated as T/N_(WT1) ratio, and T/N_(WT1) value was analyzed with the clinicalpathological parameters. Results The WT1_N expression levels of the 102 breast cancer tissues were significantly higher than those of the adjacent normal breast tissues, with the median WT1_N of 2.38 (ranged from 0.12 to 112.3) and 0.81 (ranged from 0.03 to 11.65) for each (P <0.01), but there were no statistical differences between the WT1_N of 8 benign breast tumors and the nearing normal tissues, with the median WT1_N of 0.46 (ranged from 0.16 to 5.04) and 0.53 (ranged from 0.14 to 4.94) for each. Furthermore the WT1_Nas well as the T/N_(WT1) ratio of the malignant breast cancer tissues were significantly higher than those of the benign tumor tissues, with the median T/N_(WT1) value of 2.54 (ranged from 0.28 to 172.88) and 1.17 (ranged from 0.09 to 2.63) for each. Non-parameter correlation analysis showed that the T/N_(WT1) in breast cancers were of no relevance to lymph node metastasis, clinical-pathological types, estrogen receptor and progestone receptor status, but positively correlated with the expression level of IL-8 gene which calculated with T/N IL-8(r =0.723, P <0.01). Conclusion The WT1 gene is highly expressed in breast cancer which suggests that WT1 level assessed by RQ-RT-PCR could be a novel marker of disease progression and poor prognosis.

Objective To investigate the effect of simvastatin (SV) in combination with cytosine arabinoside (ARA-C) on the proliferation and apoptosis of K562 cells. Methods Human K562 cells were incubated with SV and cytosine arabinoside alone or in combination and K562 cells without any treatment were taken as normal control. Cells in different groups were collected at 24, 48 and 72 h after incubation for further detections. Morphological changes by Wright stain were performed. MTT method was used to assay the growth inhibition rate and cytoflowmetry was used to detect the early stage apoptosis ratio and cell necrosis ratio. Results Compared with Ara-C group and SV group, cells in the group treated with SV combined with Ara-C showed obvious karyopyknosis,apoptosis bodies formation and significant cell growth inhibition, which were positively correlated with culture time. Combination of 15 μmol/L SV and Ara-C showed the most significant cell growth inhibition with a inhibition rate of (72±1) % at 72 h of culture, as was significantly higher than that of 15 μmol/L SV group (45±2) % and 20 μmol/L Ara-C group (44±0) % (P ＜0.01),furthermore, combination of 15 μmol/L simvastatin and Ara-C showed synergistic inhibition with Q value of 1.24 and 1.19 at 24 h and 48 h in each. The apoptosis rates at early stage (AnnexinV) detected by flow cytometry in 20 μmol/L, 15 μmol/L and 10 μmol/L SV treated K562 cells were significantly higher than that in normal K562 cells (P ＜0.01), as were positively correlated with culture time and SV dose (P ＜0.05). There were no significant difference of early apoptosis rate between the 20 μmol/L SV and 15 μmol/L SV groups (P ＞0.05), yet the very two were both higher than that of 10 μmol/L SV group (P ＜0.05). There were no statistic differences of late apoptosis rate (PI) amongdifferent treated groups (P ＞0.05). Conclusion SV inhibited K562 cell proliferation and induced cell apoptosis in vitro, and combination of SV and Ara-C exhibited obvious synergistic inhibition and apoptosis, which may increase the sensitivity of K562 cell to chemotherapy. SV at 15 μmol/L may be the best concentration for K562 cells in vitro.