1.FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient.
Lu GUO ; Yan-ni LAI ; Lian-xi LI
Chinese Journal of Medical Genetics 2008;25(2):218-220
OBJECTIVETo detect the gene mutation of fibroblast growth factor receptor (FGFR2)in a Crouzon syndrome family and a sporadic patient.
METHODSThe genomic DNA from 10 members in the Crouzon syndrome family, as well as a sporadic patient, was extracted. Then exons 8 and 10 of FGFR2 gene and their flanking sequences were amplified by polymerase chain reaction. Some of the family members were studied by only amplifying exon 8. Finally, the PCR products were purified and sequenced.
RESULTSThe G to T transversion mutation (heterozygote) at nucleotide 833 in exon 8 of FGFR2 (C278F), was found both in the patients of the family and the sporadic patient.
CONCLUSIONFGFR2 gene mutation is responsible for the pathogenesis of Crouzon syndrome in these patients.
Adult ; Child ; Craniofacial Dysostosis ; genetics ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Polymerase Chain Reaction ; Receptor, Fibroblast Growth Factor, Type 2 ; genetics
2.Summary and analysis of safety warning on clinical application of anti-cold Chinese patent medicine preparations.
Xiao-xiao LAI ; Hua LIN ; Yi-ni LUO ; Ying-yan WANG ; Xiao-hong DUAN ; Lin WANG ; Rui LUO ; Yan-hong CHEN
China Journal of Chinese Materia Medica 2015;40(8):1594-1600
In China, many surveys have shown that most people do not have a correct understanding about cold and administration of anti-cold Chinese patent medicine preparations. The author conducted a systematic summary and analysis on the actual application of anti-cold Chinese patent medicine preparations as well as the warning on safe application of anti-cold Chinese patent medicine preparations in Clinical Medication Information of China Pharmacopoeia, in the expectation of reducing the blind application of anti-cold Chinese patent medicine preparations and providing traditional Chinese medicine pharmacists new ideas in monitoring the safe application of exterior syndrome-relieving Chinese patent medicine preparations.
China
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Common Cold
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drug therapy
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Drugs, Chinese Herbal
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adverse effects
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chemistry
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therapeutic use
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Humans
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Nonprescription Drugs
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adverse effects
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chemistry
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therapeutic use
3.1,8-cineol based influenza vaccine can improve vaccine efficacy on mice infected influenza virus
Hui Shang LIAO ; Yun LI ; Lin Yu XU ; Ni Yan LAI ; Ping Pei XU
Chinese Journal of Immunology 2017;33(11):1606-1610
Objective:To evaluate 1,8-cineol as vaccine adjuvants to enhance influenza vaccine immune efficacy.Methods:80 BALB/c mice were divided into blank control group,1,8-cineol group,HA group and HA+ 1,8-cineol group,each group of 20.Blank control group normal breeding,HA group accepted HA protein 0.2 μg,the HA+1,8-cineol group was given 0.2 μg HA+ 100 mg/kg 1,8-cineol,1,8-cineol group was given 100 mg/kg 1,8-cineol.Except the blank group,other groups of mice intranasal immunized for three times interval of one week.At the fourth weeks each mice was infected with 10LD50 influenza virus FM1.On the 6 days after the infected,10 mice in each group were collected serum,using enzyme-linked immunoassay(ELISA)to detect serum IgG,IgG1b,IgG2a, IgG2b in 450 nm absorbance values(OD).Removed the lung tissue and measured the lung index and pathological.Remaining mice continue to observe 15 days and record the deaths,calculating the infected mice survival rate.Results:Compared with the HA group, HA + 1,8-cineol group can reduce the lung index,alleviate the pulmonary lesions,improve the serum IgG,IgG1b,IgG2a,and increases the survival rate of infected mice.Conclusion:1,8-cineol as vaccine adjuvants,can strengthen the immune effect of influenza vaccine.
4.Set up drug lymphocyte stimulation test (3H-TdR) and observe its application in drug-induced liver injury.
Gao-yan CHEN ; Cheng-wei CHEN ; Qing-chun FU ; Xiao-jin WANG ; Liu-da NI ; Xiao-hua JIANG ; Feng ZHOU ; Li-qin SHI ; Rong-tao LAI ; Jun YANG
Chinese Journal of Hepatology 2012;20(3):190-192
OBJECTIVETo set up the drug lymphocyte stimulation test (DLST), as a diagnosis means for DILI which was immunity idiosyncrasy, improve the Diagnosis, level of DILI.
METHODFor the 59 patients who diagnosed as DILI, we separated their PBMC, exploring to the suspicious drug which caused DILI, then use the methods 3H-TdR to test, according to the mixed degree to clear the PBMC count which specific activated by drug.We also set up drug group, negative control and Positive control at the same time. Preliminary experiments was including the best dose of PHA and the best concentration of the drug. We set up 40 healthy group in our experiments as a control, and explore them on the same drug every time. We test the two groups at the same time. We handled the results use t-test.
RESULTSThe methods 3H-TdR could be exactly reflect the PBMC's proliferation degree nearly the same when they were be stimulation by PHA or the sensitive drug. When the DILI patients were explore to the suspicious drug, their stimulation index (SI) Obviously higher than 1.8. Form this test, there were 28 in 59 patients of DILI's group were positive (47.46%), SI was from 1.9 to 43.08, the average was 22.49, the healthy group SI was lower than 1.8, the SI of DILI's group was significantly higher than healthy group (5.78+/-0.75/1.16+/-0.25, P less than 0.05). Our test suggested DLST has Higher specificity (94.92%) and sensitivity (47.46%).
CONCLUSIONDLST was significance for the patients who diagnosed as immunity idiosyncrasy's DILI, it's reflected these patients' Proliferation of PBMC when explored to the suspicious drug for the second time.
Adolescent ; Adult ; Case-Control Studies ; Chemical and Drug Induced Liver Injury ; diagnosis ; Female ; Humans ; Leukocytes, Mononuclear ; Lymphocyte Activation ; Male ; Middle Aged ; Young Adult
5.Association of ATP-binding cassette transporter A1 R219K polymorphism with atrial fibrillation.
Liang-Chuan CHEN ; Jian PENG ; Wen-Yan LAI ; Guo-Liang ZENG ; Zhong-Dong ZHANG ; Zhen-Ni TAN ; Wei DENG
Journal of Southern Medical University 2009;29(3):494-496
OBJECTIVETo investigate the association of ATP binding cassette transporter A1 (ABCA1) gene R219K polymorphisms with atrial fibrillation (AF) in Chinese population.
METHODSA total of 250 patients with AF and 250 control subjects were selected. Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) was used to determine the ABCA1 genotype, and the serum concentration of C-reactive protein (CRP) and high-density lipoprotein cholesterol (HDL-C) were measured in all the subjects.
RESULTSThe frequency of the RR , RK , KK , allele R , allele K genotype of ABCA1 in AF group and control group was 42.0%, 42.8%, 15.2%, 34.0%, 43.2% and 22.8%, 63.4%, 36.6%, 55.6%, 44.4%, respectively. The frequency of the KK genotype was significantly higher in the control group than in the case group (P=0.03), and the frequency of the allele K genotype was significantly different between the two groups (P=0.012). The serum CRP concentrations was significantly higher in AF group than in the control group (P=0.004), but serum HDL-C level showed no difference between the two groups. The serum CRP concentrations were significantly higher in patients with RR genotype than in those with KK genotype (P=0.013), and patients with RR genotype had significantly lower HDL-C level than those with RK and KK genotypes (P=0.009 and 0.027, respectively).
CONCLUSIONPatients with AF have elevated serum CRP level in comparison with healthy individuals, and the K allele of R219K polymorphism is an independent protective factor against AF.
ATP Binding Cassette Transporter 1 ; ATP-Binding Cassette Transporters ; genetics ; Aged ; Alleles ; Asian Continental Ancestry Group ; genetics ; Atrial Fibrillation ; blood ; genetics ; C-Reactive Protein ; metabolism ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; methods ; Polymorphism, Restriction Fragment Length
6.Study on quality analysis of essential oil from twig and leaf of Baeckea frutescens.
Bu-ming LIU ; Mao-xiang LAI ; Kai-ni LIANG ; Yong CHEN ; Ke-jian YAN ; Quan-lin CAI ; Yao-hua LI
China Journal of Chinese Materia Medica 2004;29(6):539-542
OBJECTIVETo provide scientific methods for quality criterion by studying the chemical components of essential oil from Baeckea frutescens.
METHODThe chemical components of essential oil from B. frutescens were identified by GC-MS-DS, TLC and capillary GC. The relative contents of main components were determined by area normalization.
RESULTMore than 50 peaks were separated, and 38 components were identified, which accounted for over 94% of the total GC peaks areas of the essential oil. The methods for quality evaluation of essential oil from B. frutescens by TLC and capillary GC were established.
CONCLUSIONThe chemical components of essential oil from B. frutescens collected from different habitats and collecting periods have common characteristics as well as differences. Some components, such as linalool, can be used as a standard and chromatography fingerprint to analyze the quality of essential oil from B. frutescens.
Bridged Bicyclo Compounds ; analysis ; China ; Cyclohexanols ; analysis ; Ecosystem ; Monoterpenes ; analysis ; Myrtaceae ; chemistry ; Oils, Volatile ; chemistry ; isolation & purification ; Plant Leaves ; chemistry ; Plant Stems ; chemistry ; Plants, Medicinal ; chemistry ; Quality Control ; Seasons
7.Therapeutic effect of BILT combined with praziquantel in treatment of chronic schistosomiasis
yi Ru LAI ; Na ZHENG ; na Ni PENG ; le Li LI ; Yu HE ; Yan MEI ; bo Hong WANG
Chinese Journal of Schistosomiasis Control 2017;29(5):648-650
Objective To investigate the clinical therapeutic effect of biological information infrared liver therapeutic appa-ratus(BILT)combined with praziquantel in the treatment of patients with chronic schistosomiasis. Methods A case-control study was conducted. A total of 142 chronic schistosomiasis patients were divided into an experimental group(BILT combined with praziquantel)with 64 cases and a control group(routine treatment with praziquantel alone)with 78 cases on the basis of the age,gender,disease duration and liver function as paired condition. Fatigue,diarrhea,abdominal distension,liver func-tion,hyaluronic acid(HA)and laminin(LN)were as observation indexes and the observation results were compared between two groups. Results Before the treatment,there were no significant differences between the two groups in the indexes above-mentioned(P>0.05). After the treatment,the incidence rates of fatigue,diarrhea,abdominal distension,abnormal liver func-tion,and the levels of HA and LN in the experimental group were significantly lower than those in the control group(P<0.01). Conclusion BILT combined with praziquantel can significantly alleviate the short-term clinical symptoms,restore liver func-tion and also alleviate hepatic fibrosis of the patients with chronic schistosomiasis.
8.Molecular typing of Listeria monocytogenes isolated from foodstuff in Guangdong province by pulsed-field gel electrophoresis.
Dong-mei HE ; Feng DENG ; Hong-min WANG ; Chang-wen KE ; Ji-wen YAN ; Hai-ming ZHU ; Wei-dong LAI ; Man-dan SONG ; Bing YANG ; Hai-yan WANG ; Jian WANG ; Ma CONG ; Bi-xia KE ; Xiao-ling DENG ; Han-zhong NI
Chinese Journal of Epidemiology 2008;29(1):38-43
OBJECTIVETo establish molecular typing of Listeria monocytogenes isolates by pulsed-field gel electrophoresis (PFGE) for studying the epidemiologic characteristics of Listeria monocytogenes isolated from foodstuff in Guangdong province and to build up PFGE typing database of Listeria monocytogenes isolates for identifying the infectious resource of the outbreaks and other epidemiologic investigation.
METHODS"Standardized Protocol for Molecular Subtyping of Listeria monocytogenes by PFGE" was followed. BioNumerics software was applied on image analysis, database establishment, comparative and corresponding analysis.
RESULTS107 Listeria monocytogenes isolates were typed by PFGE, 41 PFGE types were observed among the isolates. The PFGE types were dispersive among these isolates. Listeria monocytogenes isolates were most frequently isolated in raw chicken while the most PFGE types were found in this type of food. The positive rate was relatively high in cold and iced foods. Only 1-2 DNA fragment difference occurred in 26 Listeria monocytogenes isolates by PFGE, so high degree of relatedness remained among these isolates. There were unique PFGE patterns in the regions of Shaoguan and Huizhou. From time to time, a number of isolates remained close relationship.
CONCLUSIONPFGE typing of the 107 Guangdong Listeria monocytogenes isolates demonstrated relative genetic diversity but a number of the isolates showed close relatedness.
Electrophoresis, Gel, Pulsed-Field ; methods ; Food Microbiology ; Genetic Variation ; genetics ; Genotype ; Listeria monocytogenes ; classification ; genetics ; isolation & purification ; Phylogeny
9.Diagnostic value of transbronchial needle aspiration combined with transesophageal endoscopic ultrasound-guided fine needle aspiration in mediastinal and pulmonary hilar lesions.
Xiao-Yan LI ; Gui-Yu CHENG ; Zhi-Hui ZHANG ; Ning LÜ ; Yue-Ming ZHANG ; Shuang-Mei ZOU ; Li-Yan XUE ; Lei ZHANG ; Xiao-Guang NI ; Shao-Qing LAI ; Shun HE ; Gui-Xiang YU ; Feng-Huan JU ; Hua-Ying XUN ; Rong-Rong CHENG ; Gui-Qi WANG
Chinese Journal of Oncology 2009;31(7):536-540
OBJECTIVETo evaluate the value of transbronchial needle aspiration (TBNA) combined with transesophageal endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) in the diagnosis of mediastinal and pulmonary hilar lesions as well as in the lymph node staging (N staging) of lung cancer.
METHODS129 patients with mediastinal and pulmonary hilar lesions underwent either TBNA or EUS-FNA with cytological needle aspiration. The samples obtained from TBNA or EUS-FNA were examined by both cytologiy and histopathology.
RESULTSOf the 129 patients, 59 underwent TBNA and 70 EUS-FNA. The diagnostic rate were 84.7% (50/59) by TBNA and 94.3% (66/70) by EUS-FNA, resepectively. The diagnosis of 116 (89.9%) patients were confirmed by either TBNA or EUS-FNA. The pathological and cytological diagnostic rates were 92.2% (107/116) and 88.0% (102/116), resepectively. The diagnostic rate was elevated by 8.4% (9/107) through pathological examination. The histological classification rates by cytological and pathological examination were 73.8% (76/116) and 89.3% (92/103), respectively. The diagnostic rate of histological classification was elevated by 35.5% (27/76) through pathological examination.
CONCLUSIONThe combination of TBNA and EUS-FNA can improve the diagnostic rate for wider mediastinal and pulmlonary hilar lesions. Pathological examination of the samples obtained from the TBNA and EUS-FNA can elevate not only the rate of diagnosis but also the rate of histological classification.
Adenocarcinoma ; diagnostic imaging ; pathology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biopsy, Fine-Needle ; methods ; Biopsy, Needle ; Carcinoma, Squamous Cell ; diagnostic imaging ; pathology ; Endosonography ; methods ; Female ; Humans ; Lung Neoplasms ; diagnostic imaging ; pathology ; Lymph Nodes ; diagnostic imaging ; pathology ; Lymphatic Metastasis ; Male ; Mediastinal Neoplasms ; diagnostic imaging ; pathology ; secondary ; Mediastinum ; Middle Aged ; Neoplasm Staging ; Small Cell Lung Carcinoma ; diagnostic imaging ; pathology ; Young Adult
10.Searching for genes interacting with human PCIA1 gene by using the bacterial two-hybrid system.
Zu-mao LI ; Yan-jun WEN ; Song-tao LAI ; Rui NI ; Hong-xin DENG ; Bing KAN ; Jiong LI ; Jun LIU ; Xiao-mei JING ; Ping CHENG ; Wei SHI ; Yong-xi JIA
Chinese Journal of Medical Genetics 2007;24(3):279-283
OBJECTIVETo search for the genes which could interact with newly found homo sapiens cross-immune reaction antigen (PCIA1) gene and accordingly to provide insights into the study of the gene function.
METHODSThe Stratagene's BacterioMatch Two-Hybrid System and BacterioMatch Fetal Kidney Library were adopted and the recombinant bait plasmid pBT-PCIA1 was cotransformated with the target plasmid pTRG-cDNA library DNA into the reporter stain. After screening and isolation of positive pTRG clones, the target genes were identified by DNA sequencing and bioinformation analysis.
RESULTSAmong all the seven detected target genes, three genes' function were not known, the other four genes had important functions. Their mutations or abberant expression resulted in severe diseases and overexpression of ACTN4 (actinin, alpha 4), PSAP (prosaposin) or EIF3S10 (eukaryotic translation initiation factor 3, subunit 10 theta) could promote tumor development and progression.
CONCLUSIONThe bacterial two-hybrid system technique is an efficient method, which can provides insights into the study of novel genes' function by detecting protein-protein interactions. This study indicates that PCIA1 gene expression correlates with tumor formation, invasion and metastasis.
Bacteria ; genetics ; metabolism ; Computational Biology ; DNA Restriction Enzymes ; metabolism ; Gene Library ; Genetic Vectors ; Humans ; Neoplasms ; genetics ; pathology ; Plasmids ; genetics ; Sequence Analysis, DNA ; Two-Hybrid System Techniques