1.Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia.
Minghua JIANG ; Xiaoou WANG ; Kuangyi SHU ; Weiyan JIANG ; Ying HUANG ; Ying LIN ; Shanshan LI ; Yunliang HU
Chinese Journal of Medical Genetics 2014;31(2):134-139
OBJECTIVETo analyze clinical manifestation and genetic mutations in 8 Chinese pedigrees featuring hereditary dysfibrinogenemia.
METHODSProthrombin time(PT), activated partial thromboplastin time(APTT), thrombin time(TT), calibration of plasma protamine sulfate against TT, fibrinogen (Fg) activity, coagulation factors II, V, VII, VIII, IX, X, XI and XII of all probands and their family members were detected with an automatic blood coagulation analyzer; D-dimer(D-D) and fibrin(ogen) degradation products(FDPs) were also dtected by automatic blood coagulation analyzer, Fg antigen were detected with an immunoturbidimetry method. Exons of fibrinogen genes FGA, FGB and FGG and flanking sequences were amplified by polymerase chain reaction(PCR) and sequenced.
RESULTSAll of the probands showed normal levels of FDPs, D-dimer(D-D) and activity of coagulation factor II,V,VII, VIII, IX,X,XI, XII. Plasma PT and APTT were normal or slightly prolonged. Prolonged TT was found in all of the probands, whilst TT was not significantly shortened by protamine sulfate. Fg antigen was within the normal range, but Fg activity was significantly decreased. The Fg antigen/activity ratio was greater than 2. One proband has carried a heterozygous variant of the FGA gene g.1233G>A(p.A α Arg35His). Four have carried a heterozygous mutation of the FGB gene g.9692A>G(p.Bβ Asn190Ser). The remaining 3 had heterozygous substitution of FGG gene g.10819G>A(p.γ Arg301His). In addition, 2 polymorphisms (p.A α Thr331Ala) and p.B β Arg478Lys) were identified in FGA and FGB genes.
CONCLUSIONp.A α Arg35His, p.B β Asn190Ser and p. γ Arg301His are responsible for the inherited dysfibrinogenemia in the 8 Chinese pedigrees. p.B β Asn190Ser is firstly reported in China. p.B β Asn190Ser and p. γ Arg301His may be mutation hot spot in the Chinese population.
Afibrinogenemia ; blood ; genetics ; Fibrin Fibrinogen Degradation Products ; analysis ; Fibrinogen ; analysis ; genetics ; Humans ; Pedigree
2.Unfolded Histidine-Tagged Protein is Immobilized to Nitrilotriacetic Acid-Nickel Beads, But Not the Nickel-Coated Glass Slide.
Minho CHO ; Sunyoung AHN ; Heonyong PARK
Genomics & Informatics 2006;4(3):133-136
The adsorption of proteins on the surface of glass slides is essential for construction of protein chips. Previously, we prepared a nickel-coated plate by the spin-coating method for immobilization of His-tagged proteins. In order to know whether the structural factor is responsible for the immobilization of His-tagged proteins to the nickel-coated glass slide, we executed a series of experiments. First we purified a His-tagged protein after expressing the vector in E. coli BL21 (DE3). Then we obtained the unfolding curve for the His-tagged protein by using guanidine hydrochloride. Fractions unfolded were monitored by internal fluorescence spectroscopy. The delta G(H20) for unfolding was 2.27 kcalmol +/- 0.52. Then we tested if unfolded His-tagged proteins can be adsorbed to the nickel-coated plate, comparing with Ni2+ -NTA (nitrilotriacetic acid) beads. Whereas unfolded His-tagged proteins were adsorbed to Ni2+ -NTA beads, they did not bind to the nickel-coated plate. In conclusion, a structural factor is likely to be an important factor for constructing the protein chips, when His-tagged proteins will immobilize to the nickel-coated slides.
Adsorption
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Fibrinogen
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Glass*
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Guanidine
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Immobilization
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Protein Array Analysis
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Spectrometry, Fluorescence
3.Clinical significance of monitoring coagulation- and fibrinolysis-related indexes during catheter-directed thrombolysis for acute lower-extremity deep venous thrombosis.
Jia-Yao DONG ; Qiao-Hua ZHU ; Mei-Hua LUO ; Cheng-Yu ZHOU ; Wei HUANG ; Xin-Fa YU
Journal of Southern Medical University 2016;36(4):588-591
OBJECTIVETo investigate the patterns of changes in serum levels of of D-dimer, fibrinogen (FIB) and fibrin degradation product (FDP) during catheter-directed thrombolysis (CDT) in patients with acute lower-extremity deep venous thrombosis (DVT) and explore their clinical significance.
METHODSFrom June, 2014 to June, 2015, 50 patients with acute lower-extremity DVT received CDT. The serum concentrations of D-dimer, FIB and FDP were measured before, during and after CDT in all the subjects, with 50 healthy subjects serving as the control group.
RESULTSCompared with the control group, the patients in DVT group showed significantly increased serum levels of D-dimer (29.17±38.67 vs 0.21 ±0.27 µg/mL), FIB (3.66±0.95 vs 3.32±0.65 g/L) and FDP (76.14±131.48 vs 1.08±0.73 µg/mL) before CDT (P<0.05). Based on the effect of CDT, the patients with DVT were divided into recanalization group (n=34) and failed recanalization group (n=16), and the patients with recanalization had significantly increased serum concentration of D-dimer and FDP (P<0.05) and decreased FIB level (P<0.05) compared with those with failed recanalization at 24 h of CDT. D-dimer, FDP, and FIB showed no significant changes in the patients with failed recanalization after the procedure (P>0.05). Correlation analysis showed that serum D-dimer (r=0.66, P<0.05) and FDP (r=0.50, P<0.05) at 24 h of the procedure were positively correlated with the outcomes of CDT.
CONCLUSIONSerum levels of D-dimer, FIB and FDP are important indicators for evaluating and predicting the effectiveness of CDT in patients with acute DVT.
Acute Disease ; Blood Coagulation ; Case-Control Studies ; Catheters ; Fibrin Fibrinogen Degradation Products ; analysis ; Fibrinogen ; analysis ; Fibrinolysis ; Humans ; Thrombolytic Therapy ; Treatment Outcome ; Venous Thrombosis ; therapy
4.beta-Fibrinogen Gene -455 G/A Polymorphism in Korean Ischemic Stroke Patients.
Seung Han LEE ; Myeong Kyu KIM ; Man Seok PARK ; Seong Min CHOI ; Joon Tae KIM ; Byeong Chae KIM ; Ki Hyun CHO
Journal of Clinical Neurology 2008;4(1):17-22
Background and Purpose: We investigated the relationship between the beta-fibrinogen gene (FGB) -455 G/A polymorphism and plasma fibrinogen levels in Korean ischemic stroke patients. We also determined whether the frequency of the -455 G/A polymorphism differed between two subtypes of noncardioembolic stroke: large-artery atherosclerosis (LAA) and small-vessel occlusion (SVO). Methods: A total of 267 patients with noncardioembolic stroke were enrolled. Plasma fibrinogen and other risk factors for stroke were evaluated. FGB -455 G/A genotypes were determined by polymerase chain reaction with restrictive enzyme Hae III and automatic DNA sequencing. Results: The FGB -455 G/A polymorphism was significantly associated with an elevated plasma fibrinogen level (p<0.001). The frequency of the A allele in Korean stroke patients was 16.7%. However, the frequency of the -455 G/A polymorphism did not differ between LAA and SVO. Conclusions: The plasma fibrinogen level might be affected by the -455 G/A polymorphism in noncardioembolic stroke patients. However, the LAA and SVO subtypes of ischemic stroke were not affected by the -455 G/A polymorphism.
Alleles
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Atherosclerosis
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Fibrinogen
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Genotype
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Humans
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Plasma
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Polymerase Chain Reaction
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Risk Factors
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Sequence Analysis, DNA
;
Stroke
5.Response to the Comments on 'Point of Care D-Dimer Testing in the Emergency Department-A Bioequivalence Study' and Erratum to the Results.
Shuhana PERVEEN ; Danielle UNWIN ; Amith L SHETTY ; Karen BYTH
Annals of Laboratory Medicine 2014;34(1):66-67
No abstract available.
Female
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Fibrin Fibrinogen Degradation Products/*analysis
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Humans
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Male
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Venous Thromboembolism/*diagnosis
6.Comments on Point of Care D-Dimer Testing in the Emergency Department: A Bioequivalence Study.
Suzanne EKELUND ; Eric HEILMANN
Annals of Laboratory Medicine 2014;34(1):64-65
No abstract available.
Female
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Fibrin Fibrinogen Degradation Products/*analysis
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Humans
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Male
;
Venous Thromboembolism/*diagnosis
7.A Clinical Evaluation of Thrombo-Wellcotest as A Screening Test for D.I.C..
Kyung Soon SONG ; Yong Mo AHN ; Hyon Suk KIM ; Samuel Y LEE
Yonsei Medical Journal 1980;21(1):58-61
Many screening tests have been developed for the detection of FDP for the last decade. Of these, Thrombo-Wellcotest was chosen in our laboratory as a screening procedure. For the last one year, there were 121 determinations performed on 82 patients. Of the patients suspected to have DIC, 27 patients with clinical, and laboratory evidence of DIC showed the Thrombo-Wellcotest to be positive with titers ranging from 1:5 to 1:1280. Those patients without clinical or laboratory evidence of DIC gave all negative results except for 7 positives with low titers. It is our opinion that the Thrombo-Wellcotest is a simple procedure to be performed by ordinary laboratory personnel and an inexpensive test which can be afforded by most of the patients. As a whole, the Thrombo-Wellcotest is considered to be a useful screening test for the detection of FDP in serum.
Disseminated Intravascular Coagulation/diagnosis*
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Fibrin Fibrinogen Degradation Products/analysis*
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Human
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Latex Fixation Tests
8.Study on the selective removal of plasma low-density lipoprotein and fibrinogen by degraded carrageenan.
Haixia CONG ; Liang YIN ; Bo FANG ; Longbing DU ; Hui ZHAO ; Jingling CHEN ; Chao YOU
Journal of Biomedical Engineering 2010;27(4):829-846
The selective removal of low density lipoprotein (LDL) and fibrinogen (Fib) by degraded carrageenan was studied by the present authors. Degraded carrageenan was prepared by acid with carrageenan as the main material. The effects of acid conditions on the molecular weight were investigated, and the proper reaction conditions were ascertained. The results of infrared spectrometry indicated that the degraded carrageenan is a heparin-like polysaccharide. Then the selective removal of LDL/Fibrinogen by degraded carrageenan was studied. When molecular weight was about 10,000, pH was 5.10 and the concentration of degraded carrageenan was 800 mg/L, the average reduction percentages were 60.0% for total cholesterol(TC), 79.4% for LDL and very low-density lipoprotein (VLDL), and 93.8% for fibrinogen. There were no significant changes with relation to the level of high-density lipoprotein (HDL) and total protein (TP). So, degraded carrageenan was shown to be of good selectivity on plasma LDL/Fibrinogen apheresis.
Carrageenan
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chemistry
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Fibrinogen
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analysis
;
isolation & purification
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Humans
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Hyperlipidemias
;
blood
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Lipoproteins, LDL
;
blood
;
isolation & purification
9.A meta-analysis of relationship between beta-fibrinogen gene -148C/T polymorphism and susceptibility to cerebral infarction in Han Chinese.
Xiao-chao CHEN ; Ming-tong XU ; Wu ZHOU ; Chun-li HAN ; Wei-qing CHEN
Chinese Medical Journal 2007;120(13):1198-1202
OBJECTIVEThe results of studies on association between -148C/T polymorphism in promoter region of beta-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis. Data sources Genetic association studies evaluating the beta-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI. Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis.
RESULTSEleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (chi(2) = 17.82, P = 0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95% CI 1.12 to 1.55, P = 0.0008). In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95% CI 0.29 to 0.54, P < 0.001), higher than that of -148C/C homozygous ones.
CONCLUSIONSbeta-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on beta-fibrinogen polymorphisms and cerebral infarction with large sample size are required.
Cerebral Infarction ; genetics ; China ; ethnology ; Fibrinogen ; analysis ; genetics ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Genetic
10.Survival Analysis of COVID-19 Patients Based on Different Levels of D-dimer and Coagulation Factors.
Abolfazl ZENDEHDEL ; Saeidreza JAMALIMOGHADAMSIAHKAL ; Maedeh ARSHADI ; Forough GODARZI ; Shokouh SHAHROUSVAND ; Hamidreza HEKMAT ; Ehsan SEKHAVATIMOGHADAM ; Seyedeh Zahra BADRKHAHAN ; Mina RIAHI ; Isa AKBARZADEH ; Mohammad BIDKHORI
Biomedical and Environmental Sciences 2022;35(10):957-961