1.The role of tofacitinib in early atherosclerosis in mice with systemic lupus erythematosus
Qu CHEN ; Fengmei GE ; Zhao LI ; Qiushuang ZHANG ; Xue WU ; Qi CHEN ; Saiqi LI ; Xuebin WANG ; Xiuqing YAN
Chinese Journal of Rheumatology 2024;28(2):106-112
Objective:To investigate the effect of tofacitinib on early atherosclerosis of patients with systemic lupus erythematosus and explore the possible relationship between lupus nephritis and early atherosclerosis of systemic lupus erythematosus.Methods:Sixteen 8-week-old female MRL/lpr mice with a body weight of 20~25 g were selected and randomly divided into the treatment group and placebo group, with 8 mice in each group. The treatment group diluted tofacitinib by normal saline, and given at a dose of 10 mg·kg -1·d -1, and the placebo group (starch tablets) administered the medication in the same way as the treatment group for a total of 8 weeks. The ELISA method was applied to detect serum anti-dsDNA antibody levels in the two groups of mice. Bradford method protein concentration was used to determine the level of urine protein in mice. Automatic biochemical analyzer was used to detect blood lipids, urea nitrogen, serum creatinine, complement C3, complement C4 levels. Western blotting was used to determine the protein expression levels of monocyte chemoattractant protein-1 (MCP-1), non-receptor protein tyrosine kinase family 1 (JAK1), signal transducer and activator of transcription 1 (STAT1) and signal transducer and activator of transcription 2 (STAT2) in aortic and kidney tissues. After the aortic arch section were prepared, oil red O was used to stain the sections, and the vascular plaque area and intimal thickness were evaluated by ImageJ software. The kidneys were dissected and stained with HE, and the active lesions of lupus nephritis were evaluated using the glomerular activity scoring system. SPSS 23.0 software was used for statistical analysis, in which the between-group comparison was performed using two independent samples t-test, and the correlation analysis was performed using the Spearman method. Results:①The serum anti-dsDNA antibody expression level in the treatment group [(5.2±1.0) U/ml] was lower than that in the placebo group [(6.9±1.2) U/ml], ( Z=-3.07, P=0.008), and the levels of complement C3 and complement C4 were higher than those in the placebo group [(293±10) mg/L vs. (260±19) mg/L, Z=2.72, P=0.017]; (16±6) mg/L vs. (8±9) mg/L, Z=3.78, P=0.006]. There was no significant difference in serum BUN and Scr between the treatment group and the placebo group [(10.6±0.7) mmol/L vs. (11.5±1.1) mmol/L, Z=-1.96, P=0.071; (17±5) μmol/L vs. (22±6) μmol/L, Z=-1.79, P=0.095]. ② Compared with the placebo group, the levels of LDL, TC and TG in the treatment group decreased [(0.83±0.15) mmol/L vs. (1.08±1.05) mmol/L, Z=-3.95, P=0.001; (2.90±0.08) mmol/L vs. (1.81±0.97) mmol/L, Z=-5.17, P=0.001; (1.10±0.08) mmol/L vs. (1.60±0.42) mmol/L, Z=-3.23, P=0.013], and HDL level increased [(2.02±0.99) mmol/L vs. (1.81±0.97) mmol/L, Z=4.42, P=0.001]. ③ Compared with the placebo group, the levels of aortic MCP-1, JAK1, STAT1 and STAT2 in the treatment group were reduced [(0.17±0.30) vs. (0.23±0.05), Z=-3.06, P=0.009; (0.83±0.09) vs. (1.05±0.19), Z=-3.07, P=0.008; (0.77±0.07) vs. (0.94±0.13), Z=-2.83, P=0.014; (0.70±0.07) vs. (0.82±0.09), Z=-2.83, P=0.013], the aortic plaque area and aortic intimal thickness were lower than those in the placebo group [(12±31) μm 2vs. (1 242±1 101) μm 2, Z=-3.12, P=0.016; (63±7) μm vs. (82.10±8.06) μm, Z=-5.13, P<0.001]. ④ Compared with the placebo group, the urine protein level and glomerulonephritis activity score in the treatment group were decreased [(0.08±0.03) mg/mL vs. (0.20±0.11) mg/mL, Z=-3.08, P=0.015; (1.79±0.38) vs. (2.79±0.14) points, Z=-7.08, P<0.001)], and renal tissue MCP-1, JAK1, STAT1.Compared with the placebo group, STAT2 levels were reduced [(0.364±0.040) vs. (0.425±0.021), Z=-3.85, P=0.003; (0.689±0.074) vs. (0.838±0.068), Z=-4.19, P=0.001; (0.508±0.070) vs. (0.646±0.019), Z=-2.85, P=0.015; (0.618±0.062) vs. (0.740±0.101), Z=-2.94, P=0.013. ⑤ The glomerular mobility scores of the two groups were positively correlated with LDL, TCHO, TG, aortic plaque area and aortic intimal thickness ( r=0.51, P=0.043; r=0.79, P<0.001; r=0.64, P=0.008; r=0.82, P<0.001; r=0.74, P=0.001), and negatively correlated with HDL ( r=-0.53, P=0.036). The urine protein levels in the two groups were positively correlated with LDL, TC, TG, aortic plaque area and aortic intimal thickness ( r=0.67, P=0.004; r=0.68, P=0.004; r=0.53, P=0.033; r=0.80, P<0.001; r=0.74, P=0.001), and negatively correlated with HDL ( r=-0.57, P=0.021). Conclusion:The severity of lupus nephritis is correlated with atherosclerosis and dyslipidemia in the early stage of systemic lupus erythematosus. Tofacitinib may reduce the degree of early arteriosclerosis and lupus nephritis in MRL/LPR mice, and reduce blood lipid levels, which may be effective in improving the prognosis of SLE and improving the survival rate of patients.
2.Multicenter retrospective study of 38 cases with fumarate hydratase deficiency uterine leiomyoma
Xiyao YAN ; Jianlong LIN ; Ruihua TIAN ; Xiuqing WENG ; Li WANG ; Zongkai ZOU ; Xinhua LI ; Xiandong LIN ; Gang CHEN ; Dan HU
Chinese Journal of Obstetrics and Gynecology 2022;57(6):435-441
Objective:To investigate the clinicopathological features of fumarate hydratase (FH) deficiency uterine leiomyoma.Methods:The data of 38 patients with FH deficiency uterine leiomyoma were screened and analyzed. The expressions of FH, S-(2-succino)-cysteine (2SC), desmin, p16, p53, CD 10 and cell proliferation associated nuclear antigen (Ki-67) proteins were detected by immunohistochemistry, and their clinicopathological features were analyzed retrospectively. Results:(1) Clinical features: the median age of the patients was (42.5±7.4) years old. Twenty-one cases (55%) of them were myomas found in physical examination, and the median maximum diameter of the tumor was 6.0 cm (range: 5.0-7.5 cm); myomectomy was performed in 23 cases (61%), total hysterectomy with or without bilateral appendages in 15 cases (39%); laparoscopic surgery in 27 cases (71%), open surgery in 11 cases (29%); none of the patients had renal cell carcinoma. (2) Histological features: atypical nuclear cells were distributed locally or diffusely, eosinophilic nucleoli and intranuclear inclusion bodies could be seen, glass like globules could be seen in the cytoplasm, nuclear division was 0-4/10 high power field (HPF), and antler like blood vessels and pulmonary edema-like changes could be seen in the stroma. Among 38 patients with FH deficiency uterine leiomyoma, FH was negative in 37 cases (97%), and positive in 1 case (3%); 2SC, desmin, p16, p53, CD 10 and Ki-67 showed focal positive expression in 38 cases (100%), including 35 cases (92%) with Ki-67 index<10% and 3 cases (8%) with Ki-67 index ≥10%. (3) Follow-up: 4 cases (11%) recurred, and there was no death. There were significant differences in age, family history, distribution of atypical nuclei and mitosis number between recurrent group and non-recurrent group (all P<0.05). Conclusions:FH deficiency uterine leiomyoma is a rare tumor, which needs pathological examination,immunohistochemical examination and clinical history. Patients younger than 43 years old, with family history, histologically atypical diffuse nuclear distribution and mitotic number ≥3/10 HPF should be alert to the risk of recurrence.
3.Study on the correlation of integr in associated protein and disease activity and bone destruction in patients with rheumatoid arthritis
Xue WU ; Fang SHI ; Xiuqing YAN ; Fengmei GE ; Zhao LI ; Qiushuang ZHANG ; Qu CHEN ; Qi CHEN ; Xuebin WANG
Chinese Journal of Rheumatology 2022;26(9):603-607
Objective:To analyze the serum levels of integrin-associated proteins (CD47) in patients with rheumatoid arthritis (RA), and to explore its association with disease activity and bone destruction in RA.Methods:Serum and clinical data were collected from 65 RA patients and 25 healthy subjects. RA patients were grouped into low, moderate, and high bone erosion groups according to 7-joint ultrasonography score (US7). The levels of serum CD47, thrombospondin-1 (TSP-1) and receptor activator of nuclear factor-κB ligand (RANKL) were measured by enzyme-linked immunosorbnent assay (ELISA) in patients with RA and healthy subjects. The statistical analysis was carried out with independent t-test, analysis of variance, nonparametric rank sum test, pearson or Spearman correlation and logistic regression. Results:① The Serum levels of CD47, TSP-1, and RANKL were higher in the RA group than in the healthy controls ( P<0.01). ② In RA patients, serum CD47 level was positively correlated with disease course ( r=0.301, P<0.05), C-reactionprotein (CRP)( r=0.316, P<0.05), number of tender joints (TJC) ( r=0.254, P<0.05), number of swollen joints (SJC) ( r=0.316, P<0.05), disease activity score in 28 joints (DAS28) ( r=0.255, P<0.05), RANKL ( r=0.252, P<0.05) and TSP-1 ( r=0.260, P<0.05). Serum TSP-1 level was positively correlated with CRP ( r=0.299, P<0.05), TJC ( r=0.335, P<0.01), DAS28 ( r=0.315, P<0.05), RANKL ( r=0.305, P<0.05). ③ The disease course [ OR(95% CI)=1.048(1.033, 1.017)] and TSP-1 [ OR(95% CI)=1.013(1.000, 1.026)] were independently relevant factors affecting bone destruction. Conclusion:CD47 levels is significantly higher in RA patients than in healthy controls, and is associated with disease activity and bone destruction. CD47 may be involved in the bone destruction process of RA by acting on TSP-1.
4.Study on the correlation of extracellular matrix metalloproteinase inducer and atherosclerosis in patients with systemic lupus erythematosus
Qiushuang ZHANG ; Xiuqing YAN ; Fengmei GE ; Zhao LI ; Min ZHAO ; Xue WU ; Xuebin WANG
Chinese Journal of Rheumatology 2021;25(4):236-240
Objective:To Studythe extracellular matrix metalloproteinase inducer (CD147) changes in patients with systemic lupus erythematosus (SLE), and to study thecorrelation of CD147 level and athero-sclerosis in SLE.Methods:Eighty patients with SLE in total were divided into intimal thickening group, (24 cases, group A) and normal intimal group (56 cases, group B) according to carotid intimamedia thickness (IMT) checked by carotid ultrasonography. In addition, their age, bodymass index, blood pressure, seral total cholesterol (TC), high density liptein cholestero (HDL-C), low density lipoprotein cholestero (LDL-C), triglyceride (TG), urinary protein quantitative test(24 h), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), anticardiolipin antibody, serum creatinine level, course of the disease, and treatment regimens were collected. Thirty-five healthy people were set as the control group (group C). The levels of serum CD147 were measured by enzyme-linked immuno sorbent assay (ELISA) in 3 groups. The correlation between the serum CD147 level of SLE patients and atherosclerosis was analyzed. The statistical analysis was carried out with independent t-test, chi-square test, analysis of variance, Spearman correlation and Logistic regression. Results:① Levels of serum CD147 in group A [ (238±30) pg/ml] were significantly higher than those in group B [(198±30) pg/ml] and group C [(150±26) pg/ml, F=67.908, P<0.01]. ② Body mass index, hypertensive ratio,total blood cholesterol,urine protein quantitative test (24 h), systemic lupus erythematosus disease activity index (SLEDAI), serum CD147 index in group A were significantly higher than those in group B ( P<0.05). ③ In Logistic regression analysis, serum CD147 [ OR (95% CI)=1.039(1.014, 1.065), P<0.05], urine protein quantitative (24 h) [ OR (95% CI)=2.598(1.033, 6.534), P<0.05] were independently relevant factors affecting carotid artery IMT. Conclusion:Serum CD147 is an independent risk factor for carotid intimamedia thickness in SLE patients.
5.Impact of violent video games and other factors on aggressive behavior of junior high school students in Shanghai
CHEN Xiuqing, YING Jiali, HUANG Limei, YANG Chen, YU Yan, GAO Xuemei
Chinese Journal of School Health 2021;42(8):1184-1188
Objective:
To understand the impact of violent video games exposure, self control level and coping style on aggressive behavior of junior high school students in Shanghai, and provide a basis for future interventions to effectively reduce adolescents aggressive behavior.
Methods:
Cluster sampling was used to select 1 886 students of 4 public middle schools in Shanghai from May to June 2019. The data was collected included Violent Video Game Use Habits Questionnaire, Buss & Perry aggression questionnaire, Adolescent Self Control Dual System Scale and Simple Coping Style Questionnaire.
Results:
According to the potential profile analysis, the level of aggressive behavior of junior school students in Shanghai could be divided into four groups, which was low aggressive group,middle aggressive group one, middle aggressive group two and high aggressive group according to level of aggregate. After controlling for gender and age, multivariate Logistic regression showed that exposure to violent video games, impulse system and negative response were risk factors for aggressive behavior( P <0.05); using low aggressive group as control group,the OR of violent video games in other three groups were 1.26, 1.30 and 1.70 respectively. The OR of impulse system were 2.96 , 4.40 and 6.84 respectively. The OR of negative response were 1.17, 1.42 and 1.74 respectively. Positive response was a protective factor( P <0.05). Using low aggressive group as control group, the OR of positive in other three groups were 0.82, 0.52 and 0.49 respectively.
Conclusion
Violent video game exposure, impulsive system and negative coping style can increase the level of aggressive behavior of junior high school students, while positive coping style can reduce the level of aggression of junior middle school students.
6.Association of Fcgamma receptor ⅢB gene polymorphism with susceptibility and clinical phenotypes of systemic lupus erythematosus
Xin DONG ; Xuebin WANG ; Xiuqing YAN ; Fengmei GE ; Zhao LI ; Qiushuang ZHANG ; Min ZHAO
Chinese Journal of Rheumatology 2020;24(1):37-44
Objective:To study the distribution of FC γ receptor ⅢB gene polymorphism in the Han population in the Yellow River Delta, and to explore the correlation between the gene polymorphism of multiple loci and the susceptibility and clinical phenotypes of systemic lupus erythematosus (SLE).Methods:From January 2017 to December 2017, 144 SLE patients in the Affiliated Hospital of Binzhou Medical College of Shandong Province were selected as the experimental group and 150 healthy people as the control group. Whole blood samples, clinical data and laboratory examination test data were collected. Genomic DNA was extracted by single base extension polymerase chain reaction (PCR) technology and single nucleoside was extracted by mass spectrometry. The relationship between the polymorphism of each point of FC γ receptor ⅢB gene and the susceptibility and clinical phenotypes of SLE was analyzed by χ2 test with SPSS 25.0 software. Results:① The frequencies of CT and TT genotype at rs115878669 were 50.7%, 64.0%, 23.6% and 10.0% respectively in the test group and the control group, the difference was statistically significant ( χ2=5.3, P=0.021; χ2=9.8, P=0.002); The frequencies of TT genotype at rs147574249 were 17.4% and 8.0% respectively in the test group and the control group, the difference was statistically significant ( χ2=5.9, P=0.016); The frequencies of GG and GA genotype at rs199705513 were 20.8%, 10.0%, 59.0%, 70.0%, the difference was statistically significant ( χ2=6.7, P=0.010; χ2=3.9, P=0.049); The frequency of CA genotype at rs77717968 was 30.6% and 46.0% in the test group and the control group, respectively, the difference was statistically significant ( χ2=7.4, P=0.007). ② In the experimental group, the frequencies of heterozygous CT genotypes at rs115878669 were 37.2% and 56.4% in the blood system affected group and the unaffected group, respectively, the difference was statistically significant ( χ2=4.5, P=0.035). In the thrombocytopenia group and the normal platelet normal count group, the frequencies of AG genotypes at rs114531649 were 79.2% and 50.0%, respectively, the difference was statistically significant ( χ2=6.8, P=0.009) and GG genotypes were 4.2% and 25.8%. The difference was statistically significant ( χ2=4.3, P=0.039). The frequency of CC genotype at rs147574249 was 4.2%, 25.8% respectively. The difference was statistically significant ( χ2=5.4, P=0.020). The frequency of CT genotype was 79.2%, 56.7% respectively. The difference was statistically significant ( χ2=4.2, P=0.040). The frequency of CT geno-type at rs115878669 was 70.8%, 46.7%, respectively. The difference was statistically significant ( χ2=4.7, P=0.031). The frequency of AA genotype at rs199705513 was 4.2%, and 23.3%, the difference was statistically significant ( χ2=4.6, P=0.033), the frequency of AA genotype at rs77717968 was 4.2%, 26.7%, and the difference was statistically significant ( χ2= 4.5, P=0.033), the frequency of TT genotype was 25.0%, 9.2%, the difference was statistically significant ( χ2=4.8, P=0.028). There was no statistical significance difference in other comparisons ( P>0.05). The GG genotype frequencies of rs114531649 and the CC genotype frequencies of rs147574249 were 31.2% and 15.7%, respectively. The differences were statistically significant ( χ2=4.9, P=0.027). The AA geno- type frequencies of rs199705513 were 29.5% and 13.2%, the difference was statistically significant ( χ2=5.8, P=0.016), the CC genotype frequency of homozygote at rs61803007 was 32.8%, 16.9%, the difference was statistically significant ( χ2=4.9, P=0.026), the TC genotype frequency of heterozygote was 67.2%, 83.1%, the difference was statistically significant ( χ2=4.9, P=0.026), the AA genotype frequency of homozygote at rs77717968 was 31.2%, 16.9%, respectively, the difference was statistically significant ( χ2=4.1, P=0.044), and there was no significant difference in other comparisons ( P>0.05). The frequency of TC genotype in rs146653557 was 39.4% in serositis group and 75.0% in non serositis group, the difference was statistically significant ( χ2=4.3, P=0.037), the other differences were not statistically significant ( P>0.05). The frequency of CG genotype in rs428194 group and rs61803004 group was 53.8% and 22.9% respectively, the difference was statistically significant ( χ2=12.7, P=0.000 4). The frequency of GG genotype in rs428194 group was 46.2% and 77.1%, 46.2% and 78.1% in rs61803004 group respectively, the difference was statistically significant ( χ2=12.7, P=0.000 4; χ2=13.7, P=0.000 2). The frequencies of GT genotype were 46.2% and 21.0%. The differences were statistically significant ( χ2=9.0, P=0.002 7). The frequency of TT genotypes was 7.7% and 1.0%, the difference was statistically significant ( χ2=4.8, P=0.029). The frequencies of CT genotypes at rs61803008 were 46.2% and 23.8% respectively, the difference was statistically significant ( χ2=6.8, P=0.009 2). The frequencies of TT genotypes were 46.2% and 74.3%. The difference was statistically significant ( χ2=10.1, P=0.001 5). Conclusion:There is a significant correlation between Fc gamma receptor ⅢB gene related loci and SLE susceptibility and clinical phenotypes.
7.The level of serum hypoxia-inducible factor-1α and the regulation of pantoprazole in patients with gouty arthritis
Zhao LI ; Xiuqing YAN ; Fengmei GE ; Xin DONG ; Xuebin WANG
Chinese Journal of Rheumatology 2018;22(2):101-104
Objective To explore the level of serum hypoxia-inducible factor (HIF)-1α and the effect of pantoprazole on HIF-1α in patients with gouty arthritis.Methods Subjects were divided into acute gouty arthritis (group A),intermittent gouty arthritis (group B) and healthy controls (group C).Patients in group A were divided into mild (A1) and severe (A2) subgroups according to the severity of inflammation.Levels of serum HIF-1α in the three groups,and the levels of interleukin (IL)-1β and tumor necrosis factor (TNF)-α in group A1 and group A2 were detected by enzyme-linked immunosorbent assay (ELISA).Patients in group A2 were randomly divided into three groups,saline 100 ml/twice a day,20% pantoprazole 100 ml,twice a day and 40% panto-prazole 100 ml,twice a day were administered respectively.After 7 days,the levels of serum HIF-1α were measured by ELISA.One-way analysis of variance (ANOVA) and two independent sample t test were conducted in this study.Results ① Levels of serum HIF-1α in group A [(48±13) ng/L] were significantly higher than those in group B [(40±12) ng/L,P<0.01] and group C [(28±12) ng/L,F=29.838,P<0.01].② Levels of serum HIF-1α [(56±10) ng/L],IL-1β [(51 ±13) ng/L] and TNF-α [(161 ±45) ng/L] in the experimental group A2 were higher than those in the experimental group A1 [HIF-1α:(42±11) ng/L,t=4.600,P<0.01;IL-1β:(42±12) ng/L,t=2.552,P<0.05;TNF-α:(122±34) ng/L,t=3.432,P<0.01].③ Levels of HIF-1α [(26±6) ng/L],IL-1β [(23±4) ng/L],TNF-α [(92±6) ng/L] in the 40% pantoprazole group were lower than those in 20% pantoprazole 100 ml,twice a day group [HIF-1α:(33±4) ng/L];IL-1β:(30±5) ng/L;TNF-α:(102±7) ng/ L] and saline group [HIF-1α:(37±5) ng/L];IL-1β:(38±5) ng/L];TNF-α:(108±9) ng/L](all P<0.05);Levels of HIF-1α,IL-1β and TNF-αin the 20% pantoprazole group were lower than those in saline group (all P<0.05).Conclusion ① HIF-1α may be one of the indicators of acute inflammation,which may reflect the degree of inflammation in patients with gout.② Pantoprazole can reduce the level of serum HIF-1α,IL-1β and TNF-α in patients with gouty arthritis,with a concentration dependent characterisit.
8.Huai qi huang granules for the treatment of children with mycoplasma pneumoniae pneumonia: a multicenter clinical study
Lishen SHAN ; Yunxiao SHANG ; Miao LI ; Xiaohua HAN ; Huanji CHENG ; Yan HUANG ; Jicheng DAI ; Shuqiang QU ; Jun SUN ; Yan BAI ; Changshan LIU ; Shaomin REN ; Yingchun LI ; Liping SUN ; Yingxue ZOU ; Hao XU ; Xiuqing WU ; Hong YAN ; Jing CHEN ; Li YAO ; Yanqi SU ; Chunmei JIA ; Chenghua SHI ; Jianhua LIU ; Zhongping ZHANG ; Jun WANG ; Yuling HAN ; Yanfen WANG ; Yushui WANG ; Guang YANG
International Journal of Pediatrics 2018;45(1):53-57,72
Objective To analyze the effects of Hual qi huang granules on children with mycoplasma pneumoniae pneumonia.Methods A randomized,multicenter parallel controlled clinical trial was carried out.A total of 3 000 cases of hospitalized children with mycoplasma pneumoniae pneumonia were selected.All of them were given treatment for mycoplasma pneumoniae pneumonia with macrolide antibiotics and symptomatic treatment.They were randomly divided into 2 groups:research group and control group.The children of research group were give oral Huai qi huang granules for three months.According to the classification of pneumonia,these two groups were divided into:lobar pneumonia research group,lobar pneumonia control group,lobular pneumonia research group,lobular pneumonia control group.The hospitalization duration of fever,length of hospital stay,the absorption area of lung inflammation and pneumonia severity sores were observed.The frequency of upper respiratory infections,bronchitis,pneumonia were observed in 3 months after discharge.Results 2 378 cases were investigated.The hospitalization duration of fever,length of hospital stay of research group were significantly shorter than that of in control group (P < 0.001).The children with lobar pneumonia,2 weeks after treatment,the absorption of consolidation of the lobar pneumonia research group is significantly better than lobar pneumonia control group (P <0.001).After two weeks treatment,the pneumonia scores of lobar pneumonia research group is lower than lobar pneumonia control group (P < 0.05).Followup of 3 months after hospital discharge,frequency of upper respiratory infection and bronchitis of research group,were significantly lower than that of control.In addition,appetite increased significantly in research group than control (P < 0.001).There are 21 cases with drug associated adverse reactions (mild diarrhea),including 12 cases of research group,9 cases of control group,and there was no statistical significance (P >0.05).Conclusion Standard treatment combined with oral Huai qi huang granules in the treatment of mycoplasma pneumoniae pneumonia,can significantly shorten hospitalization duration of fever,length of hospital stay and reduce the severity score of pneumonia.Three months oral Huai qi huang granules can significant reduce the frequency of respiratory infections and bronchitis,also can increase patients appetite,and be safe.
9.Prenatal diagnosis for Walker-Warburg syndrome by whole exome sequencing
Fengchang QIAO ; Ping HU ; Ying LIN ; Yan WANG ; Hang LI ; Xiuqing JI ; Chunyu LUO ; Zhengfeng XU
Chinese Journal of Clinical Laboratory Science 2018;36(5):321-323
Objective To perform prenatal diagnosis for a fetus with hydrocephalus and congenital heart disease by whole exome se-quencing ( WES) , and then provide genetic counseling for the next pregnancy. Methods DNAs from amniotic fluid cells of the fetus and peripheral blood of his/her parents were extracted, respectively, and then performed WES. After the process of library construc-tion, hybrid capture and sequencing, the obtained data were compared with the database from human genome and literatures and ana-lyzed by software. The pathogenic mutations were searched based on the American College of Medical Genetics and Genomics ( ACMG, 2015) guideline and verified by the Sanger sequencing. Results The WES results found that the compound heterozygous mutations ex-isted in POMT1 gene of the fetus, which were inherited from the splice site mutation c.605+1G>A( IVS7) of his/her mother and the frameshift mutation c.1367 c.1368 ( exon 15) insGA, p. L456Lfs?80 of his/her father, respectively. The Sanger sequencing results were consistent with that of WES. The fetus was affected by Walker-Warburg syndrome, and his/her parents decided to terminate the pregnancy finally. Conclusion The WES may diagnose Walker-Warburg syndrome rapidly and accurately, which may play an impor-tant role in clinical management and genetic counseling.
10.B-cell activating factor involved in the pathogenesis of lupus nephritis through regulating phosphoino-sitide 3-kinase/protein kinase B/mammalian target of rapamycin signaling
Xuebin WANG ; Fengmei GE ; Fangfang WANG ; Xiuqing YAN ; Zhao LI
Chinese Journal of Rheumatology 2017;21(1):15-20
Objective To investigate whether B-cell activating factor (BAFF) involved in the patho-genesis of lupus nephritis (LN) by regulating phosphoinositide 3-kinase/protein kinase B/mammalian target of rapamycin (PI3K/Akt/mTOR) signaling. Methods Twenty-eight lupus nephritis patients and 20 controls were included in this study. The clinical data were collected. BAFF levels in plasma were measured by ELISA, and the relationship between systemic lupus erythematosus disease activity index (SLEDAI) and BAFF were analyzed. The mRNA and protein levels of BAFF, phosphorylated-PI3K (p-PI3K), phosphorylated-Akt (p-Akt), phosphorylated-mTOR (p-mTOR) and Bcl-2 in kidney tissues were measured using real-time polymerase chain reaction (RT-PCR) and Western blotting. Data were analyzed using Mann-Whitney U test and Spearman correlation analysis. Results ①Plasma BAFF levels were significantly higher in LN patients [(580 ±45) ng/L] compared with controls [(208 ±30) ng/L](Z=-5.856, P<0.01), and significant positive correlation was found between plasma BAFF levels with SLEDAI (r=0.723, P<0.01). ② Plasma BAFF level in LN patients was positively correlated with 24 h UP and anti-dsDNA titers (r=0.381, 0.461, P<0.05). The protein level of BAFF in kidney tissues was positively correlated with 24 h UP and anti-dsDNA titer (r=0.469, 0.489, P<0.05).③The mRNA levels of BAFF, p-PI3K, p-Akt, p-mTOR and Bcl-2 in kidney tissues were increased in patients compared to controls[5.8±1.8 vs 2.1±0.7, Z=-4.915, P<0.01;6.7±0.9 vs 1.71±0.53, Z=-5.857, P<0.01;5.6±0.9 vs 1.8 ±0.5, Z=-5.751, P<0.01; 5.6 ±1.4 vs 1.6 ±0.4, Z=-5.291, P<0.01; 2.11 ±0.36 vs 1.33 ±0.22, Z=-4.844, P<0.01].④The protein levels of BAFF, p-PI3K, p-Akt, p-mTOR and Bcl-2 in kidney tissues were increased in patients compared to controls [0.72±0.19 vs 0.31±0.05, Z=-4.747, P<0.01;0.73±0.11 vs 0.33±0.09, Z=-5.834, P<0.01;0.77±0.06 vs 0.22±0.07, Z=-5.855, P<0.01;1.18±0.27 vs 0.47±0.13, Z=-5.416, P<0.01;2.08±0.37 vs 1.32±0.18, Z=-4.998, P<0.01]. Conclusion The findings of this study indicate that BAFF may participate in the pathogenesis of LN by regulating PI3K/Akt/mTOR signaling.


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