1.The study on the relationship between methylation of MGMT, hMSH2 gene promoters and protein ex-pression in glioma patients
Nan LIU ; Zhiguo TONG ; Min ZHOU ; Jiyuan ZHU ; Jiping QI
Practical Oncology Journal 2014;(3):198-201
Objective To investigate the relevance between protein expression and methylation of MG-MT and hMSH2 in glioma patimts.Methods Immunohistochemical and methylation specific PCR were adopted respectively to test on 275 cases of glioma patients for the protein expression and methylation situation of MGMT and hMSH2.Results The negative protein expression rate of MGMT and hMSH 2 in the tissue of brain golima were 47.2% and 62.5% respectively;the occurrence of methylation in gene promoter region were accordingly 41.8% and 22.4%.Statistical analysis revealed that MGMT promoter methylation in peripheral blood gene groups was related with the protein negative expression of tumor tissue (P<0.05),while there was no relationship between the protein expression of hMSH2 and its gene promoter methylation(P>0.05).Conclusion The meth-ylation of MGMT is a common molecular situation in the generation of brain glioma ,which may be connected with that of tumor.However,hMSH2 promoter methylation might not the main reason for inactivation of hMSH 2 pro-tein,there may be other important factors affecting its expression .
2.Effect of metformin on serum thyrotropin level in type 2 diabetic patients with subclinical hypothyroidism
Jiping NAN ; Fei GAO ; Qishan XU ; Zhanguo ZHAO ; Jin DONG
Chinese Journal of Primary Medicine and Pharmacy 2014;21(11):1619-1621
Objective To examine the effect of metformin on serum thyrotropin (TSH) level in diabetic patients with subclinical hypothyroidism (SCH).Methods The long-term effects of metformin on thyroid axis hormones were assessed in 55 diabetic patients with primary SCH who were untreated with L-T4(study group),as well as in 31 diabetic patients with normal thyroid function (control group).According to using metformin or not,patients of study group were divided into the metformin group (group 1,n =28),and the non-metformin group(group 2,n =27).Serum TSH levels were compared between baseline and follow-up in patients receiving metformin treatment.Results After 30 weeks of metformin administration,a significant TSH decrease(t =2.91,P < 0.05) was observed in group 1 [from(6.98 ± 1.92) to(2.44 ± 0.61) mIU/L].After stopping metformin therapy,the level of TSH at 52 weeks fol low-up was back to the baseline level [(6.99 ± 1.76) mIU/L,P > 0.05].There was no significant difference in TSH level between baseline and after 30 weeks follow-up in group 2[(6.01 ± 1.63) mIU/L vs(6.21 ± 1.71) mIU/L,P >0.05].At the end of 30 weeks follow-up,no significant differences were found in body mass index and thyroid func tion in both metformin group and non-metformin group.In control group,metformin administration for 30 weeks had no effect on TSH level(P > 0.05).Conclusion Metformin administration influences TSH without change of FT4 level in type 2 diabetic patients with primary SCH.
3.Determination of Polychlorinated Dibenzo-p-dioxins/Dibenzofurans, Dioxin Like Polychlorinated Biphenyls, Brominated Flame Retardants and Polybrominated Dibenzo-p-dioxins/Dibenzofurans in Flue Gas from Stationary Source
Pengjun XU ; Bu TAO ; Nan LI ; Sen ZHENG ; Hu ZHAO ; Shuang FAN ; Zhiguang ZHOU ; Yue REN ; Li QI ; Jiping CHEN
Chinese Journal of Analytical Chemistry 2015;(3):356-365
A method for simultaneous determination of PCDDs, dl-PCBs, BFRs and PBDD/Fs in flue gas from stationary source was developed. The sample was extracted by Soxhlet apparatus with toluene, and followed by purification through sulfuric acid partition and multi-layer silica gel column separation. The target compounds were then all separated by passing through the active carbon-dispersed silica gel column and reversal eluting. Gas chromatography coupled with a thermostable capillary column ( short length, thin stationary phase film) was operated at pulse injection mode. High resolution mass spectrometry set at low-electron-energy ionization was used for quantification. The high- and low-brominated compounds were determined simultaneously. The detection limits of this method were 0. 081-1. 2 pg for PCDD/Fs, 0. 10-0. 32 pg for dl-PCBs, 0. 14-12 pg for PBDEs, 0. 26-16 pg for new BFRs, 0. 44-3. 6 pg for tetra- to hepta-BDD/Fs and 8. 2-12 pg for OBDD/F. Recoveries ( RSDs) in spiked flue gas samples were 88%-115%(2. 9%-6. 1%) for PCDD/Fs, 84%-118% (3. 2%-10%) for dl-PCBs, 71%-135% (2. 1%-18%) for PBDEs, 71%-114% (2. 9%-7. 4%) for new BFRs, 83%-127% (5. 2%-10%) for tetra-to hepta-BDD/Fs and 52%-149% ( 23%-24%) for OBDD/F. All quality control data fell within the acceptable range specified in analysis standards for flue gas.
4.Explore the diagnosis value of whole exome sequencing in pediatric neuro-developmental disorders
Hua XIE ; Lingyun LYU ; Zhijie GAO ; Jiping PENG ; Fang LIU ; Xinna JI ; Xiaobo CHEN ; Hui LI ; Shuo FENG ; Jianzhao ZHANG ; Yu ZHANG ; Nan WU ; Qian CHEN ; Xiaoli CHEN
Chinese Journal of Laboratory Medicine 2017;40(8):623-629
Objective To evaluate the application value of whole exome sequencing (WES) in diagnosis of NDDs (neuro-developmental disorders) children.Metheod WES was used for the diagnosis of 35 unexplained NDD children, which admitted to the outpatient and ward of Children′s hospital affiliated to Capital institute of pediatric from November 2015 to November 2016.These children′s clinical data was collected detailedly.Using bioinformatics software tools combining with patient′s phenotype, the candidate genetic/genomic variants of these patients were identified from WES data.The final pathogenicity of genetic/genomic variants was interpreted according to the guideline of the American College of Medical Genetics and Genomics (ACMG), meanwhile, the variants validation and co-separation analysis in the parents and their family members were performed by Sanger sequencing, real time-PCR and multiplex ligation-dependent probe amplification (MLPA).Results 14 pathogenic single nucleotide variants (SNVs) and three pathogenic copy number variations (CNVs) were detected in the 35 NDD children, the detection rate in this study is 48.6%.Among the 14 pathogenic SNVs, 11 of them are the definite NDD-related genes according to OMIM database (such as CHARGE syndrome, Wiedemann-Steiner syndrome, Cockayne syndrome, etc.), and six of them are de novo (6/11, 54.6%).Three pathogenic CNVs were identified from WES data, including two microduplications and one microdeletion.Meanwhile, a female child carrying a frame shift mutation in MECP2 was found and the germline mosaicism with low-frequency mutation of this site (8.4%) was confirmed by his father's sperm.Conclusions The diagnosis rate of WES in NDDs children is 48.6% in our small-sample study.In addition to pathogenic/likely pathogenic SNVs, CNVs can be detected successfully from WES data, which effectively improved the diagnosis yield in NDDs children.
5.Recurrent type Ⅱ mild encephalitis/encephalopathy with reversible splenial lesion: a case report
Chongfeng DUAN ; Nan LI ; Lei NIU ; Jiping ZHAO ; Fang LIU ; Shuai ZHANG ; Yande REN ; Xuejun LIU
Chinese Journal of Neurology 2020;53(4):305-308
Mild encephalitis/encephalopathy with reversible splenial lesion has special clinical-imaging features. According to the extent of lesion involvement, it can be divided into type Ⅰ and type Ⅱ. Clinically, type Ⅰ is more common, and type Ⅱ is rare. A rare case of recurrent type Ⅱ mild encephalitis/encephalopathy with reversible splenial lesion is reported. The patient presented with typical type Ⅱ mild encephalitis/encephalopathy with reversible splenial lesion for the first time, involving the corpus callosum and the deep white matter, and the lesions disappeared after a short-term reexamination. Two years later, the lesions recurred, and the scope of the lesions was similar to that of the first time, and the lesions disappeared after a short-term reexamination. The clinical and imaging findings are analyzed in combination with relevant literatures review in order to deepen the understanding of the disease and improve the level of diagnosis and treatment.
6.Construction of the Chinese Veteran Clinical Research (CVCR) platform for the assessment of non-communicable diseases.
Jiping TAN ; Nan LI ; Jing GAO ; Yuhe GUO ; Wei HU ; Jinsheng YANG ; Baocheng YU ; Jianmin YU ; Wei DU ; Wenjun ZHANG ; Lianqi CUI ; Qingsong WANG ; Xiangnan XIA ; Jianjun LI ; Peiyi ZHOU ; Baohe ZHANG ; Zhiying LIU ; Shaogang ZHANG ; Lanying SUN ; Nan LIU ; Ruixiang DENG ; Wenguang DAI ; Fang YI ; Wenjun CHEN ; Yongqing ZHANG ; Shenwu XUE ; Bo CUI ; Yiming ZHAO ; Luning WANG
Chinese Medical Journal 2014;127(3):448-456
BACKGROUNDBased on the excellent medical care and management system for Chinese veterans, as well as the detailed medical documentation available, we aim to construct a Chinese Veteran Clinical Research (CVCR) platform on non-communicable diseases (NCDs) and carry out studies of the primary disabling NCDs.
METHODSThe Geriatric Neurology Department of Chinese People's Liberation Army General Hospital and veterans' hospitals serve as the leading and participating units in the platform construction. The fundamental constituents of the platform are veteran communities. Stratified typical cluster sampling is adopted to recruit veteran communities. A cross-sectional study of mental, neurological, and substance use (MNS) disorders are performed in two stages using screening scale such as the Mini-Mental State Examination and Montreal cognitive assessment, followed by systematic neuropsychological assessments to make clinical diagnoses, evaluated disease awareness and care situation.
RESULTSA total of 9 676 among 277 veteran communities from 18 cities are recruited into this platform, yielding a response rate of 83.86%. 8 812 subjects complete the MNS subproject screening and total response rate is 91.70%. The average participant age is (82.01±4.61) years, 69.47% of veterans are 80 years or older. Most participants are male (94.01%), 83.36% of subjects have at least a junior high school degree. The overall health status of veterans is good and stable. The most common NCD are cardiovascular disorders (86.44%), urinary and genital diseases (73.14%), eye and ear problems (66.25%), endocrine (56.56%) and neuro-psychiatric disturbances (50.78%).
CONCLUSIONWe first construct a veterans' comprehensive clinical research platform for the study of NCDs that is primarily composed of highly educated Chinese males of advanced age and utilize this platform to complete a cross-sectional national investigation of MNS disorders among veterans. The good and stable health condition of the veterans could facilitate the long-term follow-up studies of NCDs and provide prospective data to the prevention and management of NCDs.
Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; Cross-Sectional Studies ; Disease ; Female ; Health Status ; Humans ; Male ; Veterans ; statistics & numerical data