1.The characteristics of the gene expression and its associated molecular mechanism of one case with Cushing′ssyndrome(adrenalcorticoadenoma)
Yongde PENG ; Yanjie GU ; Renming HU ; Al ET
Chinese Journal of Endocrinology and Metabolism 1986;0(04):-
Objective To explore the characteristics of the gene expression in Cushing′s adrenal corticoadenoma and its associated molecular mechanism. Methods cDNA libraries of human normal adrenal and the adenoma were constructed. Large scale sequencing and bioinformatics were used. Results From the tumor library, 2089 expressed sequence tags (ESTs) were obtained with a successful rate of 98.9%. The functional distribution of the known genes in the tumor coincided with that in normal adrenal. Some synthases such as 3bHSDⅡ and P450c17A involved in steroidogenesis were expressed more highly in the adenoma than those in normal adrenal, especially 3bHSDⅡ. By comparison with the expression abundance of genes and statistic analysis, the differences were significant in 45 genes between the tumor and normal adrenal libraries. Interestingly, some genes associated with tumorigenesis, including heat shock protein 90, metallopanstimulin (MPS1), adenine nucleotide translocators etc, were highly expressed in the adenoma. However, those genes related to apoptosis and suppressing proliferation were not found in the tumor library. Conclusion The adenoma shows exuberant activities in steroid synthesis. Not only does the tumor highly express the genes associated with tumorigenesis, but also those related to apoptosis and suppressing proliferation lowly existed in the tumor.
2.Analysis of respirtory virus IgM antibodies detection in patients with respiratory tract infection in emergency wards
Fengquan JIANG ; Junyi MA ; Hong ZHU ; Yanan GU ; Yanjie CHENG
International Journal of Laboratory Medicine 2017;38(10):1360-1362
Objective To understand the distribution situation of respiratory viral infection among adult inpatients with respiratory infection in the emergency department.Methods The detection results data of 5 kinds of viruses RSV,IVA,IVB,PIV1,PIV2,PIV3 and ADV by indirect immune fluorescence assay in 384 adults patients with respiratory infection in the emergency department of our hospital from January 2014 to December 2015 were collected.The epidemic characteristics of different viruses were analyzed.Results Among 384 specimens,208 cases were positive in respiratory virus IgM antibody,the viral infection positive rate was 54.17%.The mixed virus infection and influenza B virus infection were most common,their viral positive rates were 26.56% and 23.44% respectively,In the mixed viral infection,the positive rate of IVA + IVB mixed infection was highest,accounting for 87.25%,which was higher than that of other kinds of mixed viral infection.The viral infection positive rate had no statistical difference between different genders(P>0.05).The viral infection rate was higher in autumn and winter,which were 66.06% and 68.37% respectively and higher than 42.31% and 34.25% in spring and summer,the difference was statistically significant(P<0.05).The viral infection rates of youth (18-45 years old) and middle-aged (>45-60 years old) were 64.94% and 63.86% respectively,which were higher than 48.45%,44.92% and 55.56% in pre-elderly (>60-75 years old),elderly (>75-90 years old) and longevous elderly (>90 years old),the differences were statistically significant(P<0.05).Conclusion The respiratory virus mixed infection and IVB infection are most common in the emergency wards,moreover the viral infection situation shows the seasonal and age characteristics,but which is not affected by sex factor.
3.Effect of berberine on radiosensitivity of cervical cancer cells
Mingzhu LIU ; Ruitai FAN ; Hao GU ; Xinjie WANG ; Yanjie LIU
Chinese Journal of Radiological Medicine and Protection 2017;37(8):581-586
Objective To investigate the effect of berberine on the radiosensitivity of cervical cancer cells.Methods 5,10,15,20 μmol/L of berberine were used to treat cervical cancer cell lines of Siha,HeLa,Caski.DMSO was applied as control of drug treatment.Cell proliferation was detected by the CCK-8 method,and then the half inhibitory concentration of berberine was calculated.Cell apoptosis and cell cycle distribution were detected by flow cytometry.Protein expressions of Cleaved Caspase-3,Cyclin B1,CDK1,STAT3 and p-STAT3 were detected by Western blot.Cervical cancer cells of Siha were treated by berberine with a half inhibitory concentration for 24 h and then irradiated with 0,2,4,6,8 Gy of X-rays.Cell clone assay was used to detect cell survival.Results Berberine could inhibit the growth of cervical cancer cells with a half inhibition concentration of(16.84 ± 3.52),(23.54 ± 8.67),(21.86 ± 6.35)μmol/L for Siha,Caski,and HeLa cells,respectively.The berberine at 17 μmol/L could induce apoptosis (t =56.847,P < 0.01) and G2/M phase arrest (t =47.251,P < 0.01) in Siha cells,which also inhibited the expressions of Cyclin B1,CDK1 and p-STAT3 and promoted the expression of cleaved Caspase-3,but did not influence the expression of STAT3 in cervical cancer cells.Treatment of cells with 17 μmol/L berberine increased the radiosensitivity of cervical cancer cells with a sensitivity enhancement ratio of 1.55.Conclusions Berberine can inhibit cell proliferation,promote apoptosis,block cell cycle,and increase radiosensitivity of cervical cancer cells.
4.Expression and significance of Th1/Th2 cytokines in ankylosing spondylitis
Junxiang WANG ; Ping WEI ; Jinghong MENG ; Xiuchan LIU ; Yanjie LIU ; Guang GU ; Haiying CHEN ; Jianli XIE
Clinical Medicine of China 2008;24(10):989-990
Objective To investigate the changes and significance of Th1/Th2 cytokines in ankylosing spondyhtis (AS).Metbotis Serum and synovial fluid levels of TNF-α,IL.17.IL-10 and IL-4 were detected by en-zyme linked immunosorbent assay(ELISA)in AS cases.Results The serun levels of TNF-α,IL-17 and IL-10 were significantly higher,while the serum level of IL-4 Was significantly lower in AS group than in normal group.The levels of TNF-α.IL-17 and IL-4 in synovial fluid were significantly higher than in serum.Conclusion Disequilibrium exists in Th1/Th2 cytokine network of AS.and there is a strong predominance of Th1.
5.Randomized controlled trial of chemotherapy plus geiftinib as ifrst-line treatment for patients with advancedEGFR mutation-positive lung adenocarcinoma
Bo JIN ; Yanwei ZHANG ; Baohui HAN ; Yanjie NIU ; Yu DONG ; Tianqing CHU ; Aiqin GU
China Oncology 2015;(10):761-767
Background and purpose:For patients with advanced lung adenocarcinoma harboring an activating EGFR gene mutation, the current standard of care is EGFR-TKI alone. This study aimed to compare efficacy and safety of gefitinib plus chemotherapy with gefitinib or chemotherapy alone for treating advanced lung adenocarcinoma with an activatingEGFR gene mutation.Methods:This study included 61 patients with lung adenocarcinoma harboring an acti-vatingEGFR gene mutation (19 exons deletion and exon 21 L858R mutations) whose ECOG performance status was 0 or 1. Patients were randomly divided into 3 groups. Group A (n=20) were given carboplatin/pemetrexed of a 4-week cycle, six cycles at most, plus gefitinib (pemetrexed 500 mg/m2, d1; carboplatin AUC 5, d1; gefitinib 250 mg/d, d 5-21), and then re-ceived pemetrexed of a 4-week cycle plus gefitinib as maintenance therapy; Group B (n=20) were given carboplatin/peme-trexed of a 4-week cycle, six cycles at most (pemetrexed 500 mg/m2, d1; carboplatin AUC 5, d1), then received pemetrexed as maintenance therapy; Group C (n=21) were given gefitinib (gefitinib 250 mg/d). Patients continued to receive therapy until disease progression or unacceptable toxicity or death. The primary end point was middle PFS and 12 months PFS rate. The secondary end points included objective response rate and adverse events.Results:Groups A and C both lost 1 case during follow-up. Median PFS for patients was 20.1 months (95%CI:18.0-22.2) in group A, 5.5 months (95%CI:3.9-7.2) in group B, and 9.8 months (95%CI:6.8-12.8) in group C. PFS rates of 12 months for groups A, B and C were 78.9%, 15.0% and 40.0%, respectively. The overall objective response rates for groups A, B and C were 84.2%, 35.0% and 65.0%, respectively. Serious adverse events were reported by 36.8% for group A, 30.0% for group B, and 5.0% for group C. The most common grade 3/4 adverse events were neutropenia (3 cases in group A, 4 cases in group B), fatigue (2 cases in group A, 2 cases in group B) and liver function impairment (2 cases in group A, 1 case in group C).Conclusion:Among patients withEGFR mutant lung adenocarcinoma, combination of chemotherapy with gefitinib as first-line treatment demonstrates an improvement in PFS. Long-term survival results will be further followed up.
6.Determination of quercetin and kaempferol of four kinds of Semen Cuscutae in Shandong by HPLC
Huibin LIN ; Yanjie GU ; Jianqiang LIN ; Jianqun LIN ; Donghe SUN ; Ya LI
Chinese Traditional Patent Medicine 1992;0(08):-
Objective: To explore the differences among contents of quercetin and kaempferol in four kinds of Semen Cuscutae in Shandong province. Methods : Quercetin and kaempferol are determined by HPLC. Results : The contents of both quercetin and kaempferol are lower in four kinds of Semen Cuscutae. The former is within 0.0002% to 0.0502% and the latter varies from 0.0002% to 0.0205%, respectively. In seeds of Cuscuta chinensis Lam., C. japonica Choisy and C.lupuliformis Krocker, quercetin contents are much higher than kaempferol contents. while in seed of C. australis R.Br., by contrast, its quercetin content is lower than kaempferol. The contents of quercetin and kaempferol have close relation with both the variety and the hostplant. Conclusion : HPLC can be used for the quality evaluation of Semen Cuscutae.
7.Quality standard of Wuhu Powder
Yanjie MAO ; Min YUE ; Xuexin GU ; Guoqiang FAN ; Yuping DUAN ; Chen QIN
Chinese Traditional and Herbal Drugs 1994;0(12):-
Object To establish the quality standard for Wuhu Powder. Methods Radix Angelicae Sinensis (RAS), Radix Angelicae Dahuricae (RAD), and Flos Carthami (FC) were determined qualitatively by TLC. The content of cimicifugoside and 5-O-methylvisammioside were determined by HPLC. Results The linear ranges of cimicifugoside and 5-O-methylvisammioside were 0.370 0—1.850 0 ?g and 0.191 0—0.955 0 ?g. The recoveries were 100.74% and 98.33%, RSD were 0.67% and 1.91% (n=5), respectively. Conclusion The method is simple, accurate, credibility, which can be used as the quality control standard of Wuhu Powder.
8.Influence of parental origins to the interpretation of chromosomal microarray based clinical pathogenicity analysis
Yanming WU ; Yanjie FAN ; Lili WANG ; Jun YE ; Lianshu HAN ; Wenjuan QIU ; Huiwen ZHANG ; Lili LIANG ; Qihua FU ; Xuefan GU ; Yongguo YU
Chinese Journal of Laboratory Medicine 2017;40(5):356-361
Objective To analyze the influence of validating the parental origin to the interpretation of clinical pathogenicity of total 54 copy number variations(CNV)with different clinical significance in 46 patients undergo chromosomal microarray analysis(CMA).Methods A retrospective study.This study enrolled 46 patients conducted in Department of Pediatric Endocrinology and Genetics of Shanghai Xinhua Hospital during the period of August 2014 to December 2015,involving 54 different CNVs detected by CMA.The parental origin of CNVs was examined by CMA or quantitative real-time polymerase chain reaction.Results Totally 54 different CNVs were found in 46 patients by CMA.Seventeen out of the 54 CNVs were pathogenic variations.After validating the parental origin,14 CNVs were proved de novo mutation,while 3 CNVs have maternal origin including 1q21.1 deletion syndrome,Xq27.3q28 and Xq22.1q22.3 duplications which inherited from maternal X chromosome.CNVs of 1q21.1 deletion syndrome often inherited from parents,and no phenotype appears on mother which may be due to the deactivation mechanism of duplications on mother′s X chromosome.Therefore,these 17 pathogenic variations were still considered to be clinical pathogenic significance after validating the parental origin.Ten out of 54 CNVs were variants of uncertain significance-likely pathogenic.After parental original validation,3 CNVs were proved de novo mutation considering likely pathogenic significance,while 7 CNVs have parental origin still judged to be unknown clinical pathogenicity.Twenty-seven out of 54 CNVs were variants of uncertain significance.After validating the parental origin,only 1 CNV was proved de novo mutation considering likely pathogenic significance,while all the others had parental origin considered to be variations likely benign.Conclusion CNVs reported as likely pathogenic should be validated the parental origin in order to further study their clinical pathogenicity,while variants of uncertain significance can preliminary clear its nature by validating parental origin.
9.Construction and application of sepsis bundle therapy management and practice program
Yanjie YANG ; Xin GU ; Hu PENG ; Ling YANG ; Xiangyou YU ; Li ZHANG
Chinese Critical Care Medicine 2024;36(5):485-490
Objective:To construct a bundled therapy management and practice program for sepsis and explore its clinical application effect.Methods:① Construction of sepsis bundled therapy management and practice program: a project team was established to conduct literature review, select experts, compile and distribute questionnaires, organize, analyze expert opinions, and ensure quality control throughout the research process. From October to November 2022, expert letter consultation was carried out, and questionnaires were distributed and collected by on-site filling and WeChat. The Likert 5-point scale was used to rate each item. ② Clinical application of the protocol: ninety patients with sepsis admitted to the intensive care unit (ICU) of the First Affiliated Hospital of Xinjiang Medical University from January to July 2022 were retrospectively selected as the control group, and routine bundle treatment and nursing strategy for sepsis were adopted. Ninety patients with sepsis admitted from January to July 2023 were prospectively selected as the intervention group. Based on the treatment and nursing strategy of the control group, sepsis bundled therapy management and practice program constructed using the Delphi inquiry method was implemented. The completion rate of 1-hour, 3-hour and 6-hour bundle, the levels of inflammatory indicators at 1, 3, 7 days of treatment, and prognostic indicators were compared between the two groups.Results:① Construction of sepsis bundled therapy management and practice program: the final plan consists of 4 primary indicators, 15 secondary indicators and 34 tertiary indicators. The response rates for both rounds of inquiry questionnaires were 100%. The coefficients of expert authority value were 0.948 and 0.940, respectively. The coefficient of variation for each item was 0-0.287 and 0-0.187, respectively. Kendall's W coefficients were 0.242 and 0.249, respectively, with statistical significances (all P < 0.05). ② Clinical application of the protocol: there were no statistically significant differences in baseline data such as age, gender, infection site, pathogen species, duration of mechanical ventilation, sequential organ failure assessment (SOFA), acute physiology and chronic health evaluation Ⅱ (APACHEⅡ) between the two groups. The completion rate of 1-hour, 3-hour and 6-hour bundle in the intervention group were higher than those in the control group (1-hour bundle completion rate: 53.30% vs. 21.10%, 3-hour bundle completion rate: 92.20% vs. 80.00%, 6-hour bundle completion rate: 88.89% vs. 65.56%, all P < 0.05). The levels of C-reactive protein (CRP), white blood cell count (WBC), procalcitonin (PCT), and interleukin-6 (IL-6) in two groups of patients showed statistically significant differences at different time points, between groups, and in interaction effects. Compared with the control group, the length of ICU stay in the intervention group was significantly shortened [days: 7.00 (4.00, 14.00) vs. 8.00 (7.00, 20.00), P < 0.01], and the hospitalization cost of ICU was significantly reduced [ten thousand yuan: 4.63 (3.36, 6.19) vs. 6.46 (3.32, 11.34), P < 0.05]. The 28-day mortality in the intervention group was lower than that in the control group (33.33% vs. 46.67%), but the difference was not statistically significant ( P > 0.05). Conclusions:The constructed bundled therapy management and practice program for sepsis can improve the completion rate of bundle treatment, shorten the length of ICU stay of sepsis patients, reduce the hospitalization cost in ICU, and have a tendency to reduce the 28-day mortality.
10.Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia.
Yanchuan XIE ; Yanjie XIA ; Zongli SUN ; Lei GU ; Zhouxian BAI ; Xiangdong KONG
Chinese Journal of Medical Genetics 2020;37(7):709-712
OBJECTIVE:
To explore the clinical and genetic characteristics of five pedigrees affected with hereditary spastic paraplegia(HSP).
METHODS:
Clinical data of the five pedigrees was collected, and high-throughput sequencing was carried out to detect potential variants. Sanger sequencing were used to verify the results.
RESULTS:
The probands of pedigree 1 and 2 were found to harbor heterozygous SPAST gene variants, namely c.1196C>T and c.1523T>A. The proband of pedigree 3 harbored compound heterozygous variants of FA2H gene (c.61G>C and c.688G>A). Proband from pedigree 4 harbored compound heterozygous variants of SPG11 gene (c.6812+4_6812+7delAGTA and c.915delT). The proband of pedigree 5 harbored compound heterozygous variants of SPG7 gene (c.1703_1704delAG and c.1937-1G>C). Based on the American College of Medical Genetics and Genomics(ACMG) guidelines, all variants were predicted to be likely pathogenic. Among these, SPAST gene c.1523T>A, FA2H gene c.61.G>C, SPG11 gene splicing region c.6812+4_6812+7delAGTA, c.915delT, SPG7 gene c.1703_1704delAG and splicing region c.1937-1G>C variants were unreported previously.
CONCLUSION
The probands of pedigrees 1 and 2 were diagnosed with autosomal dominant hereditary spastic paraplegia type 4, for which pedigree 2 showed incompletely penetrance. Pedigrees 3, 4, and 5 were diagnosed with autosomal recessive hereditary spastic paraplegia type 35, 11 and 7, respectively. Above result provided a reference for clinical diagnosis and genetic counseling for the affected pedigrees.