1.Analysis of MYOC gene mutation in a primary open angle glaucoma family from China
Fengyun, WANG ; Yang, LI ; Lan, LAN ; Bo, LI ; Xiaohe, LU
Chinese Journal of Experimental Ophthalmology 2014;32(8):728-733
Background Primary open angle glaucoma (POAG) is one of the frequent glaucomatous types,and genetic factor participates in pathogenesis and development of the disease.Recently,MYOC mutation was found to be associated with POAG.Objective This study was to describe the clinical and genetic findings in a POAG family from Luoyang,China.Methods This study protocol was approved by Ethic Committee of Affiliated First Hospital of Henan University of Science and Technology.The study adhered to Declaration of Helsinki.A POAG family with 29 members of 5 generations was surveyed and followed-up for 5-year duration.The mode of inheritance was determined by the pedigree analysis.The periphery blood sample was collected form 12 families and 100 health controls for the extraction of genomic DNA under the informed consent.The third exon and its flanking introns of MYOC were amplified,and quantitative real time PCR products were sequenced,and the structure and function of mutated gene were examined by restriction fragment length polymorphism analysis.The predicted effects of the detected variants on the secondary structure of MYOC protein were evaluated using Garnier-Osguthorpe-Robson (GOR) method,and homology analysis of protein was carried out by Blast software provided by National Center for Biotechnology Information (NCBI).Results This POAG family included 29 members of 5 generations,and the clinical data were not clear in 11 family members.Three individuals from 3 generations were determined POAG,another one was ocular hypertension,and 2 were carriers.Pedigree analysis appeared an autosomal dominant inheritance.In 12 subjects included 6 members genetically affected and 6 members with normal phenotype,the heterozygous mutation was found in the third exon of MYOC gene in 6 genetically affected members,which revealed a T→C transition at position 1021 (p.S341P),resulting in a switch of serine (Ser) to proline (Pro).It was a missense mutation abolished a CviKI-1 restriction site that segregated with the affected members.Secondary structure prediction of p.S341P suggested that myocilin protein was misfolded.Analysis of protein homology and switched Ser was conservative amine acid at position 1021 (p.S341P).No similar change was found in the 6 normal families and the normal controls.Conclusions Ser341Pro MYOC mutation is disease-causing factor in the POAG family of Luoyang.The clinical and genetic features of this mutation warrant further investigation.The mutation spectrum of MYOC is expanded to offer a better diagnosis and treatment for POAG patients.
2.Effect of Intravenous Low Intensity Laser Radiation Combined with TCM on Model Rabbit of Diabetic Stroke
Bo WANG ; Haifeng WEI ; Lan LIN
Chinese Journal of Information on Traditional Chinese Medicine 2006;0(02):-
Objective To observe the effect of intravenous low intensity laser radiation (ILLLI) combined with traditional Chinese medicine on TXB2, 6-Keto-PGF1? and Ang II of the rabbits of experimental diabetic stroke. Method 35 successfully modeled rabbits, after alloxian injection for diabetes and photochemical radiation for stroke, were randomized into four treatment group-control group (B), ILIB group (C), a group with compound treatment of ILIB and TCH (D), TCM treatment group (E), and 7 unmodeled rabbits were made as the normal group (A). TXB2, 6-Keto-PGF1? and Ang II level were observed and compared. Result Compared with group B, group C and E can significantly rectify the disorderly TXB2, 6-Keto-PGF1? and Ang II, Group D was better than C and E. Conclusion ILLLI combined with TCM can effectively rectify the TXB2, 6-Keto-PGF1? and Ang II level, reduce nervous injury, cure diabetes cerebral infarction.
3.The expression of VEGF,COX2 and mPGES mRNA in colon cancer
Bo JIANG ; Dong-Bo LIU ; Wen-Yuan WANG ; Wei-Lan LIU ; Su-Tang GUO ;
Cancer Research and Clinic 2001;0(04):-
Objective To study the expression of VEGF,Cox2 and mPGES in colon cancer.Methods VEGF,Cox2 and mPGES mRNA expression in 32 paired samples(tumor and adjacent normal tissue)were de- termined by using real time RT-PCR.Results VEGF was overexpressed in 19 of 32(59.3 %)tumor tissues compared with that in 6 of 32(18.7 %)adjacent normal tissue;COX2 was overexpressed in 20 of 32(62.5 %) tumor tissues compared with that in 5 of 32(15.6 %)adjacent normal tissue;mPGES was overexpressed in 24 of 32(75 %)tumor tissues compared with that in 9 of 32(28.12 %)adjacent normal tissue.Conclusion Our result suggested that VEGF165,mPGES and COX2 overexpressed in colon cancer.
4.Relationship between abdominal aortic calcification and outcomes in maintenance hemodialysis patients
Zhe WANG ; Fang WEI ; Jia MENG ; Bo LI ; Bo WANG ; Zhi LU ; Lan JIA ; Jie YANG ; Aili JIANG
Chinese Journal of Nephrology 2016;32(12):899-904
Objective To investigate the relationship between abdominal aortic calcification (AAC) and outcomes in maintenance hemodialysis (MHD) patients. Methods One hundred and seventy MHD patients in the dialysis center of the Second Hospital of Tianjin Medical University from June 2014 and October 2014 were enrolled prospectively. Abdominal aortic calcification (AAC) was measured using AAC score (AACS) by abdominal lateral plain radiography. According to the AACS, the patients were divided into mild AAC (AACS<5) group and severe AAC (AACS≥5) group for comparison, and Kaplan?Meier analysis was used to compare their survival rates. Multivariable COX regression models were used to determine the risk factors of all?cause mortality and cardiovascular disease mortality in MHD patients. Results Severe AAC (AACS≥5) was present in 28.2%(48/170) patients. The median follow?up duration was 25.6 (22.0, 26.0) months. During the follow?up, 6 patients (4.9%) in AACS<5 group and 14 patients (29.2%) in AACS≥5 group died. Kaplan?Meier analysis showed that patients in AACS≥5 group had higher all?cause mortality rate and cardiovascular disease mortality rate as compared with patients in AACS<5 group (χ2=9.746 ,P=0.002; χ2=9.697 ,P=0.002). Multivariate COX regression analysis demonstrated that high AACS (HR=4.373, 95%CI 1.562?7.246, P=0.005) and hypoproteinemia (HR=0.886, 95%CI 0.797?0.985, P=0.025) were independent risk factors for all?cause mortality, while hypoproteinemia (HR=0.829, 95%CI 0.718?0.956, P=0.010) and low 1,25(OH)D3 (HR=0.769, 95% CI 0.627 ? 0.944, P=0.012) were independent risk factors for cardiovascular disease mortality. Conclusions AAC is significantly associated with overall survival in MHD patients. To further evaluate the relationship between AAC and outcomes in MHD patients, multi?center and long term follow up studies of large sample size are necessary.
5.Role of mangled extremity severity score in reservation and amputation of crush limbs in patients attributable to China Wenchuan earthquake
Xiufu LAN ; Aimin WANG ; Hongzhen SUN ; Quanyin DU ; Ziming WANG ; Siyu WU ; Bo HU ; Weili FAN
Chinese Journal of Trauma 2008;24(10):861-863
Objective To evaluate the role of mangled extremity severity score(MESS)in res-ervation and amputation of crush lower limbs in earthquake. Methods There were 122 patients with crush lower limb injuries,with MESS≥8 points in 34 patients who were primarily amputated,M ESS 5-7points in 19 who were principally preserved and MESS<5 points in 69 who were preserved by means of debridement,external fixators,plast splints and vaeuum sealing drainage technique.Results All pa-tients were survived.with amputation rate of 29.5%. Conclusion MESS is an important reference for evaluation of reservation and amputation of crush limb injuries caused by earthquake.
6.Simultaneous determination of nine chemical markers of bletillae rhizoma by ultra performance liquid chromatography.
Ai-Min WANG ; Yan YAN ; Bo LAN ; Shang-Gao LIAO ; Yong-Lin WANG ; Yong-Jun LI
China Journal of Chinese Materia Medica 2014;39(11):2051-2055
A UPLC method has been developed in the current investigation for simultaneous determination of nine chemical markers of Bletilla striata, 4-hydroxymethylphenyl beta-D-glucoside, blestroside, dactylorhin A, militarine, dihydrophenanthrene 5, gymnoside V, dihydrophenanthrene 1, benzylphenanthrene 3 and gymnosides IX. Separation was performed at 45 degrees C on an ACQUITY UPLC BEH C18 column (2.1 mm x 150 mm, 1.7 microm) with a gradient solvent system of acetonitrile-water as the mobile phase. The flow rate was 0.3 mL x min(-1), the detection wavelength was 280 nm. The results showed that the nine chemical markers could be well resolved and that in the selected linear range, all calibration curves of the nine chemical markers showed good linearity (r > or = 0.999 3). The recoveries (n = 6) were in the range of 98.15% - 102.2% and RSDs were between 2.1% - 3.6%. The data suggested that the developed UPLC-UV method had good reproducibility, robustness, and accuracy, which was suitable for the quality control of Bletilla striata. Applications of the method showed that the nine chemical markers had higher contents in the wild B. striata than in the cultivated ones.
Chromatography, High Pressure Liquid
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methods
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Drugs, Chinese Herbal
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analysis
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isolation & purification
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Magnoliopsida
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chemistry
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Rhizome
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chemistry
7.Expression of bone morphogenetic protein in sclera of form deprivation myopic eye
Qing, WANG ; Xiao-nan, LIU ; Mei-lan, XUE ; Gui-bo, LIU ; Nan, WANG ; Gui-qiu, ZHAO
Chinese Journal of Experimental Ophthalmology 2013;31(12):1105-1109
Background It is well known that sclera remodeling occurs during axial elongation in myopia under the control of growth hormone or its downstream effectors.The role of transforming growth factor-β (TGF-β) in myopia has been determined in previous studies.Bone morphogenetic protein (BMP) is one of members of the TGF-β superfamily,but if it plays an important role in the genesis and development of myopia is not completely clear.Objective This study was to identify the presence of BMPs in normal guinea pigs sclera and investigate the change of BMPs in the sclera in form-deprivation myopia (FDM) of guinea pigs.Methods Thirty young guinea pigs were randomized into normal control group and experimental group using table of random number.FDM models were established by occluding unilateral eyes of guinea pigs with a translucent lens for 14 days in the experimental group,and the fellow eyes served as the controls.Diopter of all eyes was tested by retinoscopy optometry,and ocular axial length was measured by A-sonography before and after modeling.Posterior sclera tissue of the animals was obtained on 14 days,and the relative expression level of BMPs mRNA and protein were assayed by reverse transcription PCR (RT-PCR) and Western blot.The use and care of the animals complied with ARVO Statement.Results On 14 days after occluding of unilateral eyes,the refraction diopter of the experimental group was (-0.48±0.51) D,and that of the fellow eyes was (3.22 ±0.34) D,showing a significant difference between them (t =-12.814,P =0.000).Also,a significant difference in the diopter was seen between the experimental group and normal control group ([-0.48±0.51]D vs.[2.97±0.70]D,t =-11.878,P=0.000).Axial length was (8.30 ± 0.05) mm in the experimental group,(8.11 ±0.06) mm in the fellow eyes and (8.06±0.06) mm in the normal control group,showing a significant increase in the experimental group compared with the fellow eyes and normal control group (t =7.230,P =0.000 ; t =9.084,P=0.000).The expressions of BMP-2 mRNA,BMP-4 mRNA,BMP-5 mRNA in posterior sclera were detected in the normal guinea pigs.Fourteen days after the induction of myopia,the relative levels of BMP-2 mRNA and BMP-5 mRNA in sclera were 0.41 ± 0.11 and 0.65 ± 0.06 in the experimental eyes,which were significantly lower than 0.62 ± 0.07 and 0.84 ± 0.03 in the fellow eyes with the descent range of 34.48% and 23.67% respectively (t=2.838,P=0.017; t=2.524,P=0.028).The relative values of BMP-2 protein and BMP-5 protein were 0.44±0.06 and 0.70±0.05 in the experimental eyes,and those of the fellow eyes were 0.61±0.05 and 0.82±0.03,showing significant decline in the experimental eyes with the lowing range of 23.42% and 15.21%,respectively (t =2.465,P =0.030;t =2.445,P=0.031).No significant differences were found in the expression of BMP-4 mRNA and protein in posterior sclera between the experimental eyes and the normal control eyes (mRNA:t =0.704,P=0.460;protein:t=0.987,P=0.365).Conclusions The expressions of the BMP-2 and BMP-5 in sclera down-regulate significantly in FDM eyes,which suggest that BMP-2 and BMP-5 participate in sclera remodeling during myopia induction.
8.Comparison of early optic nerve damage between primary open angle glaucoma and primary angle-closure glaucoma
Yan-Yun CHEN ; Ning-Li WANG ; Yuan-Bo LIANG ; Lan WANG ; Yi ZHEN ;
Ophthalmology in China 1993;0(01):-
Objective To compare the difference of early optic nerve damage and visual field defect between primary open angle glaucoma(POAG)and primary angle-closure glaucoma(PACG).Design Prospective case series.Participants 30 eyes of 23 patients with early POAG and 30 eyes of 22 patients with early PACG were recruited.Methods Routine ophthalmologic exams,visual field (Humphrey Field Analysis 24-2),scanning laser polarimetry GDx ECC(Full Exam)were performed.Different types of RNFLD and GDx ECC parameters were compared between the two groups through X square-test and independent samples t-test,respectively.Both the intra-group globe visual indices and retinal sensitivity loss of each illumination target were compared with independent samples t-test. Main Outcome Measure GDx ECC parameters,types of RNFLD,visual indices and retinal sensitivity loss of each illumination target. Results Significant differences in all GDx ECC parameters of the two groups were found except Superior Average and Symmetry.In GDx ECC reports,diffuse RNFLD in POAG and PACG were 40% and 10%,respectively(P<0.05),while localized RNFLD were 53% and 63%,respectively.The differences of PSD and CPSD between groups were significant.More localized retinal sensitivity loss in the superiotemporal visual field in PACG were found.Conclusion The diffuse RNFL damage of early POAG is more than that of PACG. Differences between POAG and PACG in retinal sensitivity loss of the superiotemporal visual field are found,which are consistent with the RNFL damages.The pattern of RNFL damage and the visual field defects are different both functionally and structurally,which may give insight into the different etiologies of POAG and PACG.
9.The application of real-time three-dimensional transesophageal echocardiography in percutaneous left atrial appendage closure
Yijia WANG ; Qing ZHOU ; Hongning SONG ; Lan ZHANG ; Bo HU ; He HUANG ; Bin KONG
Chinese Journal of Ultrasonography 2015;(9):753-757
Objective To evaluate the application of real-time three-dimensional transesophageal echocardiography (RT-3D TEE)in left atrial appendage (LAA)closure.Methods After excluding valvular disease,21 of 36 atrial fibrillation (AF)patients suffered the percutaneous LAA closure were chosen to measure left ventricular ejection fraction (LVEF)and to observe if the thrombus or the cloudiness echo will occur.The multiple planner reconstruction function was applied to rebuild sections and to observe the LAA anatomical morphology and its internal structure.During operation,the Flexi Slice function was used to measure the dimensions of LAA ostium,RT-3D mode was used to monitor sheath transport and closure device release,and to immediately evaluate the effect of blocking and complications after the operation. Results The exam before the closure procedure showed 5 of 36 patients' left ventricular ejection fraction (LVEF)<40% and one or more thrombus or the cloudiness echo were found in other 10 patients' which were thus excluded from the study.RT-3D TEE examination in the 21 patients revealed 8 single-lobe cases, 8 double-lobes cases and 5 patients with multi-lobe.Two patients of them need a special device.The maximum dimensions of LAA ostium was (22.24±4.35)mm,the fixed plate size of conventional LAmbreTM device was (28.26±5.23)mm.All patients choiced an average (1 .1 ±0.30)closure device and get the best sealing effect evaluated by RT-3D TEE immediately after operation,10 cases of them has about 1 -3 mm residual leakage exist around the closure.None of the patients with a new pericardial effusion and cardiac tapenade,no closure shift and embolism events.Conclusions RT-3D TEE can real-time and dynamically observe LAA anatomical morphology and its internal structure,compared with other imaging techniques, RT-3D TEE has irreplaceable advantages in the percutaneous LAA closure.
10.The associations of methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and ulcerative colitis
Changlong XU ; Xiuqing LIN ; Deyun LAN ; Jianzhang WANG ; Bo ZHENG ; Zhanxiong XUE
Chinese Journal of Internal Medicine 2011;50(5):374-377
Objective To investigate the association between the genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and ulcerative colitis (UC) of Han ethnic population in Zhejiang, China. Methods Two hundred and seventy-four consecutive patients with UC and 726 healthy controls (HC) were studied. The genetic polymorphisms of MTHFR (C677T and A1298C) were genotyped using PCR-RELP methods. Results The frequencies of variant allele and genotype in MTHFR A1298Cgene were higher in UC patients than in the HC (35.77% vs 29. 96%, P =0. 013; 52. 19% vs 44. 90%,P=0.039; respectively). However, there were no significant discrepancies of the allele and genotype frequencies in the MTHFR C677T gene between the UC patients and the HC (P > 0. 05 ). In addition, the MTHFR 677Tr homozygote, T allele and 677CT/1298AC compound genotype were more prevalent in patients with extensive colitis than in those with distal colitis (37. 66% vs 14. 72% ,P = 0. 0002; 49. 35% vs 32.99% ,P =0. 0004; 29. 87% vs 15.23% ,P =0. 006; respectively). Furthermore,the variant allele in the MTHFR A1298C gene (C) in severe UC patients was significantly lower than in mild and moderate UC patients (18.97% vs 33. 88% ,P =0. 022). Conclusion The genetic polymorphisms of MTHFR C677T and A1298C are obviously associated with Han ethnic population with UC in Zhejiang province.