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1.
Article in English | WPRIM | ID: wpr-924907

ABSTRACT

As a structural barrier, the blood-brain barrier (BBB) is located at the interface between the brain parenchyma and blood, and modulates communication between the brain and blood microenvironment to maintain homeostasis. The BBB is composed of endothelial cells, basement membrane, pericytes, and astrocytic end feet. BBB impairment is a distinguishing and pathogenic factor in diabetic encephalopathy. Diabetes causes leakage of the BBB through downregulation of tight junction proteins, resulting in impaired functioning of endothelial cells, pericytes, astrocytes, microglia, nerve/glial antigen 2-glia, and oligodendrocytes. However, the temporal regulation, mechanisms of molecular and signaling pathways, and consequences of BBB impairment in diabetes are not well understood. Consequently, the efficacy of therapies diabetes targeting BBB leakage still lags behind the requirements. This review summarizes the recent research on the effects of diabetes on BBB composition and the potential roles of glial and vascular cells as therapeutic targets for BBB disruption in diabetic encephalopathy.

2.
Chinese Journal of School Health ; (12): 1781-1784, 2021.
Article in Chinese | WPRIM | ID: wpr-906804

ABSTRACT

Objective@#To analyze delay in student pulmonary tuberculosis(PTB) case finding and associated factors in Suzhou, and to provide a reference for tuberculosis outbreak prevention and control in schools.@*Methods@#A total of 1 148 students with PTB who registered and were treated in Suzhou from 2011 to 2020 were included. Kruskal Wallis H test, 2 test and Cochran Armitage trend test were used to analyze the time trend of case finding delay. Logistic regression was used to analyze the correlation between admission characteristics and case finding delay.@*Results@#Among the students with PTB, a total of 569 cases were found to be delayed. The rate of delay was 49.6%, and the median delay time was 26(11-49) days. From 2011 to 2020, the difference in case finding interval of students with PTB was statistically significant( Hc=54.62, P <0.05), and the difference in case finding rate was also statistically significant( χ 2=53.69, P <0.05). The rate of delay fluctuated, with an overall upward trend over time( Z=-3.67, P < 0.05). Clinical consultation( OR=5.57, 95%CI =1.91-16.27), positive etiology ( OR=1.46, 95%CI =1.14-1.86) were positively correlated with case finding delay(all P <0.05).@*Conclusion@#There are significant delays in case finding among students with PTB in Suzhou. Clinical consultation and positive etiology are associated with case finding delay. In response to the growing problems in daily school tuberculosis prevention and control, multiple departments should cooperate to implement relevant measures and to reduce the occurrence of case finding delay.

3.
China Pharmacy ; (12): 2846-2853, 2021.
Article in Chinese | WPRIM | ID: wpr-906650

ABSTRACT

OBJECTIVE:To study the improvement effects of paeon iflorin(PF)on myocardial injury in type 2 diabetes mellitus(T2DM)model rats and its mechanism. METHODS :The experiment was set up in the normal group ,model group , positive control group (metformin 90 mg/kg),PF high-dose ,medium-dose and low-dose groups (90,60,30 mg/kg),with 8 rats in each group. Except for normal group ,other groups were given high-glucose and high-fat diet and intraperitoneal injection of streptozotocin (30 mg/kg) to induce T 2DM model. After modeling , administration groups were given relevant medicine intragastrically,normal group and model group were given constant volume of normal saline intragastrically ,once a day ,for consecutive 4 weeks. The body weight ,fasting blood glucose and oral glucose tolerance were measured ;serum levels of glycosylated serum protein (GSP),total cholesterol (TC),triacylglycerol(TG),glutathione peroxidase (GSH-Px),superoxide dismutase(SOD),malondialdehyde(MDA),creatine kinase isoenzyme-MB (CK-MB) and troponin Ⅰ (cTn Ⅰ) were determined. The pathomorphological changes of myocardium were observed. The apoptosis index of rat cardiomyocytes was ( detected. The protein expression of B-cell lymphoma 2 (Bcl-2),Bcl-2 related X protein (Bax)and caspase- 3 in rat myocardium were detected by immunohistochemistry and Western blot. RE SULTS:Compared with normal group ,the body weight ,serum levels of GSH-Px and SOD ,protein expression of Bcl- 2 in myocardium were decreased significantly in model group(P<0.01);while fasting blood glucose ,area under blood glucose curve ,serum levels of biochemical indexes (GSP,TC, TG,MDA,CK-MB,cTnⅠ),cardiomyocyte apoptosis index ,protein expression of Bax and caspase- 3 in myocardium were increased significantly (P<0.05 or P<0.01). The arrangement of myocardium was relatively irregular ,and some muscle fibers were broken. Compared with model group ,except for body weight ,serum levels of SOD and MDA ,the protein expression of Bax in myocardium in PF low-dose group , above indexes of PF groups were reversed significantly (P<0.05 or P<0.01). CONCLUSIONS:PF can regulate glycolipid metabolism ,enhance antioxidant ability ,inhibit cardiomyocyte apoptosis and improve myocardial injury in T 2DM model rats ;the mechanism may be associated with increasing the protein expression of Bcl- 2 and down-regulating the protein expression of Bax and caspase- 3 in myocardium.

4.
Acta Pharmaceutica Sinica B ; (6): 3994-4007, 2021.
Article in English | WPRIM | ID: wpr-922455

ABSTRACT

Vascular smooth muscle cell (VSMC) migration plays a critical role in the pathogenesis of many cardiovascular diseases. We recently showed that TMEM16A is involved in hypertension-induced cerebrovascular remodeling. However, it is unclear whether this effect is related to the regulation of VSMC migration. Here, we investigated whether and how TMEM16A contributes to migration in basilar artery smooth muscle cells (BASMCs). We observed that AngII increased the migration of cultured BASMCs, which was markedly inhibited by overexpression of TMEM16A. TMEM16A overexpression inhibited AngII-induced RhoA/ROCK2 activation, and myosin light chain phosphatase (MLCP) and myosin light chain (MLC20) phosphorylation. But AngII-induced myosin light chain kinase (MLCK) activation was not affected by TMEM16A. Furthermore, a suppressed activation of integrin

5.
Article in Chinese | WPRIM | ID: wpr-856233

ABSTRACT

Objective: To summarize the research progress of the regulatory role of microRNA (miRNA) in osteogenic differentiation of mesenchymal stem cells (MSCs) and its application as a therapeutic target and diagnostic tool in orthopedic diseases. Methods: The recent literature on the regulation of MSCs osteogenic differentiation by miRNAs was extensively reviewed, and its regulatory mechanism and its application as a therapeutic target and diagnostic tool in orthopedic diseases were reviewed. Results: miRNAs are small endogenous non-coding RNAs with a length of 20-22 nucleotides, which play an important role in the osteogenic differentiation of MSCs. Osteogenesis begins with the differentiation of MSCs into mature osteoblasts, and each stage of dynamic homeostasis of bone metabolism is associated with the regulation of different miRNAs. miRNAs are regulated from the post-transcriptional level by mRNAs cleavage, degradation, translational repression, or methylation. In addition, current studies suggest that miRNAs can be used as a new diagnostic tool and therapeutic target for orthopedic diseases. Conclusion: Further study on the regulation mechanism of miRNAs will provide more ideas for finding new therapeutic targets and diagnostic tools for orthopedic disease.

6.
Article in Chinese | WPRIM | ID: wpr-826547

ABSTRACT

OBJECTIVE@#To analyze the phenotype and genetic basis for a pedigree affected with hereditary coagulation factor XI deficiency.@*METHODS@#Activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (FIB), FXI activity (FXI:C) and the antigen of FXI (FXI:Ag) were determined for the proband and members from his pedigree. Sanger sequencing was used to analyze all exons, exon-intronic boundaries, as well as the 5'- and 3'- untranslated regions of the F11 gene. Suspected variants were verified in her family members and confirmed by reverse sequencing. The impact of the variants on the protein function was predicted by using PolyPhen-2 and SIFT software. The protein structure and amino acid interaction were analyzed by using Swiss-PdbViewer.@*RESULTS@#The APTT, FXI:C and FXI:Ag of the proband and her sister were significantly reduced to 73.0 s, 10.0%, 15.0% and 87.1 s, 2.0% and 11.5%, respectively. APTT of some family members was slightly prolonged, and FXI:C and FXI:Ag also decreased to various extents. DNA sequencing revealed that the proband and her sister have carried compound heterozygous variants of c.738G>A (p.Trp228stop) and c.938G>T (p.Ser295Ile) respectively in exons 7 and 9 of the F11 gene. Her father, sister and daughter were heterozygous for the c.738G>A (p.Trp228stop) variant, while her mother and nephew were heterozygous for the c.938G>T (p.Ser295Ile). Both PolyPhen-2 and SIFT predicted that the p.Ser295Ile variant is likely to be deleterious and can affect the protein function. Modeling analysis indicated that the p.Ser295Ile variant may lead to disruption of a hydrogen bond, resulting in alteration of protein structure and instability.@*CONCLUSION@#The compound heterozygous c.738G>A (p.Trp228stop) and c.938G>T (p.Ser295Ile) variants of the F11 gene probably underlie the decreased FXI level in this pedigree.


Subject(s)
Factor XI Deficiency , Genetics , Female , Genetic Variation , Heterozygote , Humans , Mutation , Pedigree
7.
Article in Chinese | WPRIM | ID: wpr-826518

ABSTRACT

OBJECTIVE@#To explore the molecular basis for a Chinese pedigree affected with hereditary coagulation factor VII (FVII) deficiency.@*METHODS@#The coding regions of F7 gene were amplified by PCR and sequenced. Suspected variants were confirmed by reverse sequencing and validated in other members from the pedigree. Pathogenicity of the variants was analyzed with multiple bioinformatic tools.@*RESULTS@#Genetic analysis revealed that the proband has carried compound heterozygous c.985T>C (p.Ser329Pro) and c.1091G>A (p.Arg364Gln) variants in exon 8 of the F7 gene. Her mother, brother and son were heterozygous for c.985T>C (p.Ser329Pro), while her father was heterozygous for c.1091G>A (p.Arg364Gln). Phylogenetic analysis suggested that both p.Ser329 and p.Arg364 are highly conserved among homologous species. Online bioinformatic software predicted both variants to be deleterious. Protein model analysis suggested that the Pro329 side chain may form a new hydrogen bond with Leu333. The Pro benzene ring may clash with Glu325 in the p.Ser329Pro variant model. The p.Arg364Gln variant have two additional hydrogen bonds compared with wild type Arg364. Both variants may lead to alteration of the protein structure.@*CONCLUSION@#The p.Ser329Pro and p.Arg364Gln variants in exon 8 of the F7 gene probably account for the reduced FVII in this pedigree.

8.
Article in Chinese | WPRIM | ID: wpr-827733

ABSTRACT

OBJECTIVE@#To analyze the phenotype and genetic variants of a pedigree affected with hereditary protein C (PC) deficiency.@*METHODS@#The protein C activity (PC:A) of the proband and her family members (a four-generation pedigree including 11 individuals) were tested by chromogenic substrate method, and the protein C antigen (PC:Ag) was detected with an enzyme-linked immunosorbent assay(ELISA). The 9 exons and flanking sequences of the protein C (PROC) gene were amplified by PCR and directly sequenced. Suspected mutation was validated by clone sequencing and in other members of the family. MutationTaster and ClustalX-2.1-win was used to analyze the pathogenicity and conservation of the mutation site,respectively. Three-dimentional protein model and amino acids interaction were analyzed with Swiss-PdbViewer software.@*RESULTS@#The PC: A and PC: Ag of the proband were decreased to 46% (reference range: 70%-130%) and 50% (referencerange:70%-140%), respectively. Her grandmother,aunt, cousin and younger brother also showed declined PC:A and PC:Ag by approximately 50%. Genetic analysis revealed that the above individuals have all carried a deletional mutation c.1212-1212delG (p.Met364TrpfsX15) in exon 9 of the PROC gene which can cause replacement of Methionine at position 364 by Tryptophan and alteration of 15 downstream amino acids, and produce a premature stop codon at position 378. The score of MutationTaster was 1.000, indicating that the variant is pathogenic. Conservative analysis showed that the 15 altered amino acids are located in a conserved region across nine homologous species. Protein model analysis showed that the mutation has disrupted a catalytic domain of protein C thereby affected its function.@*CONCLUSION@#The heterozygous c.1212-1212delG deletional mutation in exon 9 of the PROC gene, which was unreported previously,probably accounts for the decrease of PC:A and PC:Ag in this pedigree.

9.
Article in Chinese | WPRIM | ID: wpr-772006

ABSTRACT

OBJECTIVE@#To identify potential mutations of F11 gene in a pedigree affected with hereditary coagulation factor XI (FXI) deficiency and explore its molecular pathogenesis.@*METHODS@#Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), coagulation factor VIII activity (FVIIIC), coagulation factor IX activity (FIXC), coagulation factor XI activity (FXIC), coagulation factor XII activity (FXIIC) and lupus anticoagulation (LA) of the proband and eight family members were determined. FXI antigen (FXIAg) was determined by enzyme-linked immunosorbent assay (ELISA). For the proband, potential mutations in the exons, flanking introns and 5'-, 3'-untranslated regions of the F11 gene were screened by direct DNA sequencing. The results were confirmed by reverse sequencing. Suspected mutations were detected in other family members. ClustalX-2.1-win and four online bioinformatic tools (PolyPhen-2, PROVEAN, SIFT, and Mutation Taster) were used to study the conservation and possible impact of the mutations. The structure of the mutational sites was processed with Swiss-PdbViewer.@*RESULTS@#The propositus had prolonged APTT (69.6 s), whose FXIC and FXIAg were reduced to 6.0% and 10.7%, respectively. Her mother, elder sister, one younger sister, little brother, daughter and son showed slightly prolonged APTT and moderate FXIC and FXIAg levels. Gene sequencing revealed that the propositus carried a heterozygous nonsense mutation c.738G>A (p.Trp228stop) in exon 7 and a heterozygous mutation c.1556G>C (p.Trp501Ser) in exon 13. Her mother, elder sister and daughter were heterozygous for the p.Trp228stop mutation, while one younger sister and little brother and son were heterozygous for p.Trp501Ser. Her husband and the youngest sister were of the wild type. Phylogenetic analysis suggested that Trp501 was highly conserved among all homologous species. The p.Trp501Ser was predicted to be "probably damaging","deleterious", "affect protein function" and "disease causing" corresponding to PolyPhen-2, PROVEAN, SIFT and Mutation Taster. Model analysis demonstrated that the non-polar Trp501 has two benzene rings, forming a hydrogen bond with Gln512 in the wild type. Once substituted by Ser501, the side chain may form another hydrogen bond with the benzene of His396. This may affect the normal space conformation and stability of FXI protein.@*CONCLUSION@#The compound heterozygous mutations of the F11 gene probably accounted for the low FXI concentration in this pedigree.


Subject(s)
Factor XI , Genetics , Factor XI Deficiency , Genetics , Female , Heterozygote , Humans , Male , Mutation , Pedigree , Phylogeny
10.
Article in Chinese | WPRIM | ID: wpr-776756

ABSTRACT

OBJECTIVE@#To detect potential mutations of the coagulation factor Ⅶ (F7) gene in a pedigree affected with hereditary FⅦ deficiency and explore its molecular pathogenesis.@*METHODS@#The FⅦ antigen (FⅦ:Ag) was analyzed by an enzyme-linked immunosorbent assay (ELISA) method. Prothrombin time (PT), FⅦ activity (FⅦ:C) and other coagulant parameters were quantified with an one-stage clotting assay. The F7 gene was amplified by PCR and sequenced. Mutational sites were confirmed by reverse sequencing. Impact of amino acid substitution was assessed using SIFT and PolyPhen-2 software. Structure of the mutant protein was analyzed using Swiss-pdb Viewer software based on the three-dimensional structure in the Protein Data Bank.@*RESULTS@#The propositus had prolonged PT (36.3 s), with FⅦ:C and FⅦ:Ag significantly reduced to 2% and 44%, respectively. Her father, mother, younger sister and daughter had slightly prolonged PT and reduced FⅦ:C (86%-120%). The FⅦ:Ag of her father and younger sister were also reduced. DNA sequencing revealed that the propositus has carried compound heterozygous mutations (Lys341Glu and IVS6-1G>A) of the F7 gene. Her father and younger sister were heterozygous for the IVS6-1G>A mutation, while her mother and daughter were heterozygous for the Lys341Glu mutation. Bioinformatics analysis indicated that Lys341Glu mutation may affect the stability and function of the FⅦ protein.@*CONCLUSION@#The Lys341Glu and IVS6-1G>A mutations probably underlie the reduced activity of FⅦ in this pedigree.


Subject(s)
Factor VII , Genetics , Factor VII Deficiency , Genetics , Female , Genetic Testing , Heterozygote , Humans , Male , Mutation , Pedigree
11.
Article in Chinese | WPRIM | ID: wpr-796468

ABSTRACT

Objective@#To detect potential mutations of the coagulation factor Ⅶ (F7) gene in a pedigree affected with hereditary FⅦ deficiency and explore its molecular pathogenesis.@*Methods@#The FⅦ antigen (FⅦ∶Ag) was analyzed by an enzyme-linked immunosorbent assay (ELISA) method. Prothrombin time (PT), FⅦ activity (FⅦ∶C) and other coagulant parameters were quantified with an one-stage clotting assay. The F7 gene was amplified by PCR and sequenced. Mutational sites were confirmed by reverse sequencing. Impact of amino acid substitution was assessed using SIFT and PolyPhen-2 software. Structure of the mutant protein was analyzed using Swiss-pdb Viewer software based on the three-dimensional structure in the Protein Data Bank.@*Results@#The propositus had prolonged PT (36.3 s), with FⅦ∶C and FⅦ∶Ag significantly reduced to 2% and 44%, respectively. Her father, mother, younger sister and daughter had slightly prolonged PT and reduced FⅦ∶C (86%-120%). The FⅦ∶Ag of her father and younger sister were also reduced. DNA sequencing revealed that the propositus has carried compound heterozygous mutations (Lys341Glu and IVS6-1G>A) of the F7 gene. Her father and younger sister were heterozygous for the IVS6-1G>A mutation, while her mother and daughter were heterozygous for the Lys341Glu mutation. Bioinformatics analysis indicated that Lys341Glu mutation may affect the stability and function of the FⅦ protein.@*Conclusion@#The Lys341Glu and IVS6-1G>A mutations probably underlie the reduced activity of FⅦ in this pedigree.

12.
Article in Chinese | WPRIM | ID: wpr-344126

ABSTRACT

OBJECTIVE To analyze the laboratory phenotype and FXII gene mutation in a consanguineous Chinese pedigree affected with factor XII (FXII) deficiency. METHODS Activated partial thromboplastin time (APTT), FXII activity (FXII:C) and FXII antigen (FXII:Ag) of the proband and her family members (10 individuals from 3 generations) were determined. Sanger sequencing was used to detect potential mutation within the 14 exons, their flanking regions and 5',3'-untranslated regions of the FXII gene. Suspected mutations were verified by backward sequencing. Conservation of the amino acids were analyzed with ClustalX-2.1-win. Four online bioinformatics software (PolyPhen-2, PROVEAN, SIFT and MutationTaster) were used to assess the impact of the mutations on the protein function. RESULTS The APTT of the proband and her elder brother have prolonged to 61.6 s and 68.6 s,and their FXII:C and FXII:Ag have decreased to 12%, 10% and 11%, 10%, respectively. The APTT of the paternal grandmother, maternal grandmother, father, mother, elder paternal aunt and elder maternal aunt were all normal, but their FXII:C and FXII:Ag have reduced to half of the normal value. Gene sequencing found that the proband and her elder brother have both carried a homozygous missense c.1078G>A (p.Gly341Arg) mutation in exon 10 of the FXII gene, for which the paternal grandmother, maternal grandmother, father, mother, elder paternal aunt and elder maternal aunt were heterozygous. Bioinformatic analysis suggested that the Gly341 is highly conserved, while p.Gly341Arg is a harmful mutation which may cause disease by affecting the function of FXII protein. CONCLUSION Homozygous p.Gly341Arg mutation, caused by consanguineous marriage, probably underlies the congenital FXII deficiency in this pedigree.

13.
Chinese Journal of Radiology ; (12): 569-574, 2018.
Article in Chinese | WPRIM | ID: wpr-807122

ABSTRACT

Objective@#To assess the collateral grade based on 4-dimensional magnetic resonance angiography (4D-MRA) in predicting short-term outcome in patients with acute ischemic stroke (AIS) .@*Methods@#Forty-seven patients with unilateral MCA stroke were enrolled in this study. All patients underwent multi-modality MRI within 4.5 to 24.0 hours onset of stroke. The collateral grade was assessed through the dynamic MRI angiograms derived from perfusion raw data. The AIS patients were divided into favorable and unfavorable outcome group according to the improvement of national institutes of health stroke scale (NIHSS) score. The differences in baseline data, infarct volume, the ratio of volume of ischemic tissue on perfusion to infarct core on diffusion (rVPD) and collateral grade between the two groups were analyzed. Logistic regression analysis was used to identify variable influencing the short-term clinical outcomes. The Kappa coefficient was used to analyze the consistency of the collateral grade assessed between the two observers. Spearman rank-order correlation test was used to analyze the relationship between the collateral grade, infarct volume, hypoperfusion volume and rVPD.@*Results@#The collateral grade used ASITN/SIR based on 4D-MRA was performed in 47 patients. Grade 1 in 4 patients, grade 2 in 21paitients, grade 3 in 16 patients and grade 4 in 6 patients, respectively. The collateral grade had a high consistency among the observers (Kappa=0.806, P<0.01). Of the patients who enrolled the study, the median of infarct volume was 29.63 (4.92, 69.17) ml, the hypoperfusion volume was 73.76 (29.75, 178.42) ml, and the rVPD was 3.1 (1.5, 5.8). It was negatively correlated with initial infarct volume (r=-0.627, P<0.01) and hypoperfusion volume (r=-0.354, P<0.01) . There was a significant positive correlation between the collateral grade and rVPD (r=0.575, P<0.001). There was also significant differences in infarct volume, rVPD, and collateral grade between favorable and unfavorable outcome group (P<0.05). The collateral grade based on 4D-MRA was an independent predictor of favorable clinical outcome (OR=4.419, P<0.05) .@*Conclusions@#The collateral circulation classification based on 4D-MRA proved to be a significant predictor of clinical outcome, it can be considered as a reliable method for analyzing the cerebral hemodynamic changes and collateral grade in AIS patients.

14.
International Journal of Surgery ; (12): 29-32,封3, 2018.
Article in Chinese | WPRIM | ID: wpr-693195

ABSTRACT

Objective To systemically review andquantify the incidence of oral feeding intolerance in acute pancreatitis. Methods Randomized controlled trials that reported the oral feeding intolerance rates of acute pancreatitis were searchedfrom PubMed, EMBASE, Medline, Cochrane Library, WanFang, CNKI, CMCC and VIP dal,abase wilh the" Acute pancreatitis " " Feeding intolerance" " Incidence" " Meta- analysis "from January 2002 to May 2017. Date were analyzed by using R 3. 4. 0 software. The heterogeneity of data were analyzed using 12test. Results Eleven randomized controlled trials including 658 cases were enrolled in Meta-analysis. The incidence of oral feeding of intolerance was 12. 2% . The result of subgroup analysis showed that there were no significant difference in the incidence of oral feeding intolerance when region, sample size and published year were taken into analysis (P > 0. 05). The oral feeding intolerance rate of mild acute pancreatitis was lower than that when moderately severe acute pancreatitis and severe acute pancreatitis were, included (8. 2% and 19. 9% , respectively; P = 0. 002 7). Conclusion Oral feeding intolerance affects approximately l in 8 patients with acute pancreatitis. The incidence of oral feeding intolerance of patients with severe acute pancreatitis is higher than that of patients with mild acute pancreatitis

15.
Article in Chinese | WPRIM | ID: wpr-687983

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic basis for a Chinese pedigree affected with congenital hypofibrinogenamia.</p><p><b>METHODS</b>Peripheral blood samples were collected from 9 members from the pedigree. Routine coagulation tests including activated partial thromboplastin time (APTT), thrombin time (TT), the prothrombin time (PT) were carried out. The activity of fibrinogen (Fg: C) was measured using Clauss method, and fibrinogen antigen (Fg: Ag) was measured with immunoturbidimetry. All exons and exon-intron boundaries of the fibrinogen Aα, Bβ and γ chain genes were amplified using PCR, which was followed by direct sequencing. Suspected mutation was confirmed by reverse sequencing. The mutant fibrinogen was analyzed with Swiss-PdbViewer.</p><p><b>RESULTS</b>The proband showed prolonged APTT, PT and TT. Her functional fibrinogen (Fg: C) and antigen fibrinogen (Fg: Ag) levels were reduced to 0.69 g/L and 0.72 g/L, respectively. Her mother and grandmother also had a low levels of fibrinogen, which were 0.99 g/L and 0.83 g/L for Fg: C, 1.02 g/L and 0.87 g/L for Fg: Ag, respectively. The results of other members from the pedigree were all within the normal range. Genetic analysis reveled a heterozygous G>T mutation at nucleotide 7590 in exon 8 of γ gene in the proband, which was predicted to be a novel Ser313Ile mutation. The mutation was also found in her mother and grandmother. Model analysis showed that the Ser313Ile mutation disturbed the hydrogen bonds between Ser313, Asn319 and Asp320. Moreover, the mutation also altered the mutual electrostatic force and affected the folding and instability of the mutant fibrinogen.</p><p><b>CONCLUSION</b>The heterozygous Ser313Ile mutation probably underlies the hypofibrinogenemia in this pedigree.</p>


Subject(s)
Adult , Afibrinogenemia , Genetics , Female , Fibrinogen , Chemistry , Genetics , Heterozygote , Humans , Male , Middle Aged , Mutation , Pedigree
16.
Chinese Journal of Epidemiology ; (12): 1381-1386, 2018.
Article in Chinese | WPRIM | ID: wpr-738156

ABSTRACT

Objective To investigate the distribution patterns of mosquitoes,midges and related arboviruses in Sichuan province.Methods Blood-sucking insects were collected from houses and pens,using the ultraviolet lights.Mosquito samples were classified according to morphologic characteristics and then stored at liquid nitrogen.All samples were incubated with BHK-21 and C6/36 cells for virus isolation and then detected for their viral genes.Sequences of the virus were identified and analyzed by molecular biological software,such as BioEdit 7.0.5.3,MEGA 6.0.Results In total,17 019 mosquitoes from 3 genera and 4 species and 12 700 midges were collected from the southeast regions of Sichuan province in 2016 and 2017.Among them,79.4% (13 519/17 019) belonged to Culex tritaeniorhynchus with 11.1% (1 897/17 019) as Armigeres subalbatus,5.5% (930/17 019) were Anopheles sinensis and 4.0% (673/17 019) were Anopheles sinensis 3 virus strains that isolated from Culex tritaeniorhynchus were identified as type Ⅰ Japanese encephalitis virus.Seven pools of mosquitoes isolated from Hejiang county were identified Japanese encephalitis virus gene positive through PCR amplification.With 4 pool midges were detected positive for Akabane virus through PCR gene amplification while midges samples didn't have virus isolates.Conclusions Culex tritaeniorhynchus appeared the predominant species in the southeast regions of Sichuan.Japanese encephalitis virus transmitted by mosquitoes and Akabane virus by midges were prevalent in southeast Sichuan province.

17.
Chinese Journal of Epidemiology ; (12): 1381-1386, 2018.
Article in Chinese | WPRIM | ID: wpr-736688

ABSTRACT

Objective To investigate the distribution patterns of mosquitoes,midges and related arboviruses in Sichuan province.Methods Blood-sucking insects were collected from houses and pens,using the ultraviolet lights.Mosquito samples were classified according to morphologic characteristics and then stored at liquid nitrogen.All samples were incubated with BHK-21 and C6/36 cells for virus isolation and then detected for their viral genes.Sequences of the virus were identified and analyzed by molecular biological software,such as BioEdit 7.0.5.3,MEGA 6.0.Results In total,17 019 mosquitoes from 3 genera and 4 species and 12 700 midges were collected from the southeast regions of Sichuan province in 2016 and 2017.Among them,79.4% (13 519/17 019) belonged to Culex tritaeniorhynchus with 11.1% (1 897/17 019) as Armigeres subalbatus,5.5% (930/17 019) were Anopheles sinensis and 4.0% (673/17 019) were Anopheles sinensis 3 virus strains that isolated from Culex tritaeniorhynchus were identified as type Ⅰ Japanese encephalitis virus.Seven pools of mosquitoes isolated from Hejiang county were identified Japanese encephalitis virus gene positive through PCR amplification.With 4 pool midges were detected positive for Akabane virus through PCR gene amplification while midges samples didn't have virus isolates.Conclusions Culex tritaeniorhynchus appeared the predominant species in the southeast regions of Sichuan.Japanese encephalitis virus transmitted by mosquitoes and Akabane virus by midges were prevalent in southeast Sichuan province.

18.
Chinese Journal of Zoonoses ; (12): 293-299, 2017.
Article in Chinese | WPRIM | ID: wpr-610543

ABSTRACT

In order to investigate the molecular evolution and spatio-temporal migration of Getah viruses (GETV) isolated around the world,the nucleotide and deduced amino acid sequence of GETVs were analyzed and phylogenetic trees were constructed by using informatics software including ClustalX1.83,MegaAlign,GeneDOC and Mega6.0.The Bayesian Stochastic Search Variable Selection (BSSVS) program in the BEAST v 1.8.1 software package was used to analyze the spatial dynamics of the Getah virus.Results showed that the full-length of Getah virus E2 gene consists of 1 266 nueleotides,encoding 422 amino acids.And the homology of nucleotide and amino acid were 94.5% 100% and 96.4% 100% respectively.The molecular evolution analysis revealed that there were no species and geographical distribution difference existing among GETV host animals (e.g.horses and pigs) and vectors (e.g.mosquitoes).Bioinformatics analysis showed that GETV originated in Malaysia,then it was spread to Japan,China,South Korea,Mongolia,Russia,etc.GETV E2 gene was relatively stable since GETV was first isolated in 1955.The differences of species and geographical distribution did not exist among GETV host animals and vectors,and the virus has spread from tropical regions to Eurasian continent.Thus,strengthening the detection and monitoring of GETV and its infections in humans and livestock is critical.

19.
Article in Chinese | WPRIM | ID: wpr-711994

ABSTRACT

Objective To analyse the influencing factors diagnosed by the virtual touch tissue quantification (VTQ) technology on the hardness of papillary thyroid carcinoma (PTC).Methods From May 2011 to March 2014,a total of 266 PTCs in 266 patients confirmed by pathology were enrolled in Shanghai Tenth People's Hospital.The shear wave velocity (SWV) values of PTCs were measured by VTQ.PTCs were divided into 2 groups including SWV ≥ 2.87 rn/s and SWV < 2.87 rn/s.The x2 test was used to compare the basic clinical data,ultrasound features and immunohistochemical results between 2 groups.The influencing factors of SWV values of PTCs were analyzed by forward stepwise Logistic regression analysis.Results Of the 266 PTCs,183 were SWV ≥ 2.87 m/s and 83 were SWV < 2.87 m/s.The x2 test showed that the ultrasound features of PTCs such as single or multiple,with or without central lymph node metastasis,location,size,shape,with or without posterior acoustic attenuation,with or without calcification,with or without capsule invasion,whether close to the trachea between the 2 groups were significant different (x2=4.233,4.740,9.910,4.988,4.416,4.737,7.154,8.559,all P < 0.05 or 0.01).Logistic regression analysis demonstrated that nodules were single or multiple,location,with or without posterior acoustic attenuation,with or without calcification,whether close to the trachea were influencing factors of SWV value of PTCs.The regression equation was defined as Y=-2.507 + 0.670X1 (nodules were single or multiple) + 0.800X3 (location of nodules) + 0.851X6 (with or without posterior acoustic attenuation) + 0.628X7 (with or without calcification) + 1.106X9 (whether close to the trachea).Conclusions Multiple nodules,central lymph node metastasis,located isthmus,nodules size > 10 mm,irregular shape,posterior acoustic attenuation,calcification,capsule invasion,close to the trachea were correlated with the diagnosis of PTC by VTQ technology.The more characteristics of nodules appeared,such as multiple nodules,located isthmus,posterior acoustic attenuation,calcification,close to the trachea,the harder PTCs were.

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Article in Chinese | WPRIM | ID: wpr-607787

ABSTRACT

Objective To investigate the application value of interleukin-27 (IL-27) in the patients with acute coronary syndrome (ACS).Methods A total of 208 ACS patients were enrolled in the study,including 76 acute myocardial infarction (AMI) patients with ST elevation (STEMI),58 AMI patients with non-ST elevation (NSTEMI) and 74 unstable angina pectoris (UAP) patients.These patients were divided into single-vessel lesions,double-vessel lesions and three-vessel lesions groups,and 62 patients with chest pain syndrome (CPS) were selected as a control group.The plasma IL-27 levels of all patients were determined by enzyme linked immunosorbent assay (ELISA) and analyzed.Results The levels of plasma IL-27 (median[P25,P75]) in STEMI (308.64 [245.17,359.26] pg/mL),NSTEMI (256.88 [181.52,332.51] pg/mL) and UAP (218.12 [165.33,312.46] pg/mL) patients were significantly higher than that in CPS patients (100.66[68.98,228.86] pg/mL,P < 0.01).The levels of plasma IL-27 in STEMI patients were significantly higher than that in NSTEMI and UAP patients (P < 0.05).The positive rate of IL-27 in ACS patients with negative TnI was 54.24% (32/59).The sensitivity and specificity of IL-27 in predicting ACS from chest pain patients were 80.29%and 58.06%,respectively.The levels of plasma IL-27 in the patients with three-vessel lesions were significantly higher than that with single-vessel lesions (P < 0.05).Conclusion Plasma IL-27 levels in ACS patients increase obviously,which may be involved in the pathogenesis of ACS.IL-27 may be helpful for the diagnosis of ACS patients with negative TnI and the prediction of ACS state.

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