Background and Objective Marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular systems.With the research advancement of genetic me...Background and Objective Marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular systems.With the research advancement of genetic mechanism,the diagnosis of Marfan syndrome,based on clinical manifestations and genetic evidence,is more accurate.The aim of this study is identification of genetic pathogenesis in a Chinese family.展开更多
Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmat...Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmatory evidence of the diagnosis of Liddle syndrome.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and hypokalemia and 31 additional relatives were all sequenced for mutations in exon 13 of theβ-ENaC andγ-ENaC genes,using amplification by polymerase chain reaction and direct DNA sequencing.展开更多
Background Left ventricular dilatation and a decreased ejection fraction is one of the most serious complications in patients with Takayasu arteritis(TA).We aim to describe the prevalence,clinical features,treatment,a...Background Left ventricular dilatation and a decreased ejection fraction is one of the most serious complications in patients with Takayasu arteritis(TA).We aim to describe the prevalence,clinical features,treatment,and long-term prognosis of TA patients with this complication.展开更多
Objective Recent evidence has indicated that hypertension is associated with impaired cognitive function. However, the prevention of cognitive disorders with antihypertensive therapy remains controversial.The trial pr...Objective Recent evidence has indicated that hypertension is associated with impaired cognitive function. However, the prevention of cognitive disorders with antihypertensive therapy remains controversial.The trial provided evidence to compare the efficacy on cognitive function with the combination of amlodipine with diuretics or angiotensin II receptor blocker.展开更多
Objective To report the clinical features and the screening Results of the pathogenic gene in type 2 Marfan syndrome patients,and the relationship between the transmembrane domain of TGFBR2 gene and the clinical pheno...Objective To report the clinical features and the screening Results of the pathogenic gene in type 2 Marfan syndrome patients,and the relationship between the transmembrane domain of TGFBR2 gene and the clinical phenotype.Methods The FBN1 and TGFBR2 genes were sequenced in the genomic DNA by Sanger sequence of type 2 Marfan syndrome pedigrees,and the protein structure prediction and genotype phenotypic analysis of the TGFBR2 gene transmembrane domain termination mutation were carried out.展开更多
Background and Objective Desminopathy is a largely heterogeneous group of conditions involving inherited or sporadic myofibrillar myopathy.In terms of its mode of inheritance,the autosomal dominant form is predominant...Background and Objective Desminopathy is a largely heterogeneous group of conditions involving inherited or sporadic myofibrillar myopathy.In terms of its mode of inheritance,the autosomal dominant form is predominant.Desmin gene(DES)mutations play a critical role among the pathogenic inherited factors associated with desminopathy.Desminopathy involves various phenotypes,mainly including different cardiomyopathies,skeletal myopathy and arrhythmia.The purposes of this study are characterization of a novel phenotype and identification of a DES splicing mutation in a Chinese family with desminnopathy.展开更多
Objective To investigate the effects of simvastatin compared with standard treatment on cardiovascular outcomes and all-cause mortality in high-risk hypertensive patients with a high–normal level of total cholesterol...Objective To investigate the effects of simvastatin compared with standard treatment on cardiovascular outcomes and all-cause mortality in high-risk hypertensive patients with a high–normal level of total cholesterol(TC).Methods In a randomized,open-label,blinded-endpoint trial,hypertensive patients at high risk for cardiovascular events from 180 clinical centers in China were assigned to receive treatment with amlodipine plus amiloride/hydrochlorothiazide(n=6,776)or telmisartan(n=6,766).展开更多
Objective Knowledge of seasonal variation of circadian blood pressure(BP)rhythm is still limited.The present study aimed to evaluate the seasonal influences on circadian BP variation based on a telemonitoring system i...Objective Knowledge of seasonal variation of circadian blood pressure(BP)rhythm is still limited.The present study aimed to evaluate the seasonal influences on circadian BP variation based on a telemonitoring system in a large-scale hypertensive patients.Methods Between May 2017 and March 2018,10,988 participants received ambulatory blood pressure monitoring(ABPM),of which the values were automatically and immediately transmitted through the mobile internet to a Hypertension Management Cloud Platform which stored and analyzed the data.The patients from 63 centers residing in the northern cities of China and measured in summer(June-August)and winter(December-February)were included in the analyses.展开更多
Objective Familial hypertrophic cardiomyopathy(HCM)is a common autosome dominant cardiovascular disease,mainly caused by mutations in sarcomeric protein genes.Only about 5%of the patients carried double or compound he...Objective Familial hypertrophic cardiomyopathy(HCM)is a common autosome dominant cardiovascular disease,mainly caused by mutations in sarcomeric protein genes.Only about 5%of the patients carried double or compound heterozygosity,which might be related to earlier disease onset and more severe outcome.We aimed to identify the disease-causing mutation in a Chinese family with HCM and analyze the genotype-phenotype correlation.展开更多
Objective Takayasu arteritis(TA)is a kind of large vessel vasculitis of unknown reason.Autoimmune disorder was perhaps one of the risk factors.Cancer was related to autoimmune disease.This study aimed to describe the ...Objective Takayasu arteritis(TA)is a kind of large vessel vasculitis of unknown reason.Autoimmune disorder was perhaps one of the risk factors.Cancer was related to autoimmune disease.This study aimed to describe the type and incidence of malignancy in 1,105 TA patients.展开更多
Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial wer...Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial were isolated and screened for fibrillin-1(FBN1)mutations by direct sequencing,and a genotypephenotype study was carried out following a review of the literature on mutations in the searched area.展开更多
Objective Neurofibromatosis typeⅠ(NF1)is an autosomal dominant disorder which is caused by loss-of-function mutations in neurofibromin 1 gene(NF1).Clinically,NF1 mainly manifests several typical features,such as mult...Objective Neurofibromatosis typeⅠ(NF1)is an autosomal dominant disorder which is caused by loss-of-function mutations in neurofibromin 1 gene(NF1).Clinically,NF1 mainly manifests several typical features,such as multiple neurofibromas and café-au-lait spots,as well as axillary freckling and Lisch nodules in iris.The aim of the current study is to identification a splicing mutation and genotype-phenotype correlation.展开更多
Objective Polycystic kidney disease(PKD),characterized by the presence of progressive fluid-filled cysts in renal mainly,is a lifethreatening genetic disorder which often develops into end-stage renal disease.Inherite...Objective Polycystic kidney disease(PKD),characterized by the presence of progressive fluid-filled cysts in renal mainly,is a lifethreatening genetic disorder which often develops into end-stage renal disease.Inherited pattern of PKD includes autosomal dominant and autosomal recessive.Autosomal dominant PKD is genetically heterozygous involving either of two genes,PKD1 or PKD2.The purpose of this study is to identify a novel frameshift mutation in PKD1 causing polycystic kidney disease.展开更多
Part of the tunnel spoil can not be used for concrete due to alkali aggregate reaction(AAR).Water is an indis-pensable condition for AAR,so separating the alkali-aggregate from water is of great benefit to controlling...Part of the tunnel spoil can not be used for concrete due to alkali aggregate reaction(AAR).Water is an indis-pensable condition for AAR,so separating the alkali-aggregate from water is of great benefit to controlling the AAR.This paper investigates the modification of concrete and aggregate by hydrophobic impregnation and organic coating and then evaluates their waterproof and me chanical properties by dynamic contact angle(DCA),ultrasonic wave velocity,scanning electron microscope(SEM),nuclear magnetic resonance(NMR),and so on.For waterproofness,hydrophobic impregnation and organic coating can both improve the waterproof-ness of concrete and aggregate.The organic coating is suitable for aggregate because it wrap aggregate well.And aggregate coated by PVA can improve the interfacial transition zone(ITZ).For mechanical properties,both mate-rials will weaken the strength of the interface.Furthermore,concrete made by aggregate with organic coating shows plastic deformation and has a good correlation with the film thickness,a plastic estimation model based on flm thickness is proposed.This paper evaluates the waterproof of concrete and aggregate and finds plastic con-crete with good aggregate waterproofness which provides a new idea for the application of alkali aggregate in see-page control facilities of water conservancy projects.展开更多
Objective Anemia as a concomitant disease of patients with Takayasu arteritis (TA) has been reported in several case reports, but epidemiological studies of large populations are lacking. This study evaluated the prev...Objective Anemia as a concomitant disease of patients with Takayasu arteritis (TA) has been reported in several case reports, but epidemiological studies of large populations are lacking. This study evaluated the prevalence, clinical characteristics, and medical treatment in Chinese TA population with anemia.展开更多
文摘Background and Objective Marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular systems.With the research advancement of genetic mechanism,the diagnosis of Marfan syndrome,based on clinical manifestations and genetic evidence,is more accurate.The aim of this study is identification of genetic pathogenesis in a Chinese family.
文摘Objective To characterize a novel frameshift mutation of the epithelial sodium channel(ENaC)βsubunit in a Chinese family with clinical suspicion of Liddle syndrome.And to emphasize that genetic testing is a confirmatory evidence of the diagnosis of Liddle syndrome.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and hypokalemia and 31 additional relatives were all sequenced for mutations in exon 13 of theβ-ENaC andγ-ENaC genes,using amplification by polymerase chain reaction and direct DNA sequencing.
文摘Background Left ventricular dilatation and a decreased ejection fraction is one of the most serious complications in patients with Takayasu arteritis(TA).We aim to describe the prevalence,clinical features,treatment,and long-term prognosis of TA patients with this complication.
文摘Objective Recent evidence has indicated that hypertension is associated with impaired cognitive function. However, the prevention of cognitive disorders with antihypertensive therapy remains controversial.The trial provided evidence to compare the efficacy on cognitive function with the combination of amlodipine with diuretics or angiotensin II receptor blocker.
文摘Objective To report the clinical features and the screening Results of the pathogenic gene in type 2 Marfan syndrome patients,and the relationship between the transmembrane domain of TGFBR2 gene and the clinical phenotype.Methods The FBN1 and TGFBR2 genes were sequenced in the genomic DNA by Sanger sequence of type 2 Marfan syndrome pedigrees,and the protein structure prediction and genotype phenotypic analysis of the TGFBR2 gene transmembrane domain termination mutation were carried out.
文摘Background and Objective Desminopathy is a largely heterogeneous group of conditions involving inherited or sporadic myofibrillar myopathy.In terms of its mode of inheritance,the autosomal dominant form is predominant.Desmin gene(DES)mutations play a critical role among the pathogenic inherited factors associated with desminopathy.Desminopathy involves various phenotypes,mainly including different cardiomyopathies,skeletal myopathy and arrhythmia.The purposes of this study are characterization of a novel phenotype and identification of a DES splicing mutation in a Chinese family with desminnopathy.
文摘Objective To investigate the effects of simvastatin compared with standard treatment on cardiovascular outcomes and all-cause mortality in high-risk hypertensive patients with a high–normal level of total cholesterol(TC).Methods In a randomized,open-label,blinded-endpoint trial,hypertensive patients at high risk for cardiovascular events from 180 clinical centers in China were assigned to receive treatment with amlodipine plus amiloride/hydrochlorothiazide(n=6,776)or telmisartan(n=6,766).
文摘Objective Knowledge of seasonal variation of circadian blood pressure(BP)rhythm is still limited.The present study aimed to evaluate the seasonal influences on circadian BP variation based on a telemonitoring system in a large-scale hypertensive patients.Methods Between May 2017 and March 2018,10,988 participants received ambulatory blood pressure monitoring(ABPM),of which the values were automatically and immediately transmitted through the mobile internet to a Hypertension Management Cloud Platform which stored and analyzed the data.The patients from 63 centers residing in the northern cities of China and measured in summer(June-August)and winter(December-February)were included in the analyses.
文摘Objective Familial hypertrophic cardiomyopathy(HCM)is a common autosome dominant cardiovascular disease,mainly caused by mutations in sarcomeric protein genes.Only about 5%of the patients carried double or compound heterozygosity,which might be related to earlier disease onset and more severe outcome.We aimed to identify the disease-causing mutation in a Chinese family with HCM and analyze the genotype-phenotype correlation.
文摘Objective Takayasu arteritis(TA)is a kind of large vessel vasculitis of unknown reason.Autoimmune disorder was perhaps one of the risk factors.Cancer was related to autoimmune disease.This study aimed to describe the type and incidence of malignancy in 1,105 TA patients.
文摘Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial were isolated and screened for fibrillin-1(FBN1)mutations by direct sequencing,and a genotypephenotype study was carried out following a review of the literature on mutations in the searched area.
文摘Objective Neurofibromatosis typeⅠ(NF1)is an autosomal dominant disorder which is caused by loss-of-function mutations in neurofibromin 1 gene(NF1).Clinically,NF1 mainly manifests several typical features,such as multiple neurofibromas and café-au-lait spots,as well as axillary freckling and Lisch nodules in iris.The aim of the current study is to identification a splicing mutation and genotype-phenotype correlation.
文摘Objective Polycystic kidney disease(PKD),characterized by the presence of progressive fluid-filled cysts in renal mainly,is a lifethreatening genetic disorder which often develops into end-stage renal disease.Inherited pattern of PKD includes autosomal dominant and autosomal recessive.Autosomal dominant PKD is genetically heterozygous involving either of two genes,PKD1 or PKD2.The purpose of this study is to identify a novel frameshift mutation in PKD1 causing polycystic kidney disease.
基金This work was financially supported by the National Natural Science Foundation of China(52108358)China Postdoctoral Science Foundation(2021M693110)Special Research Associate Project of Chinese Academy of Sciences(E1K2180).
文摘Part of the tunnel spoil can not be used for concrete due to alkali aggregate reaction(AAR).Water is an indis-pensable condition for AAR,so separating the alkali-aggregate from water is of great benefit to controlling the AAR.This paper investigates the modification of concrete and aggregate by hydrophobic impregnation and organic coating and then evaluates their waterproof and me chanical properties by dynamic contact angle(DCA),ultrasonic wave velocity,scanning electron microscope(SEM),nuclear magnetic resonance(NMR),and so on.For waterproofness,hydrophobic impregnation and organic coating can both improve the waterproof-ness of concrete and aggregate.The organic coating is suitable for aggregate because it wrap aggregate well.And aggregate coated by PVA can improve the interfacial transition zone(ITZ).For mechanical properties,both mate-rials will weaken the strength of the interface.Furthermore,concrete made by aggregate with organic coating shows plastic deformation and has a good correlation with the film thickness,a plastic estimation model based on flm thickness is proposed.This paper evaluates the waterproof of concrete and aggregate and finds plastic con-crete with good aggregate waterproofness which provides a new idea for the application of alkali aggregate in see-page control facilities of water conservancy projects.
文摘Objective Anemia as a concomitant disease of patients with Takayasu arteritis (TA) has been reported in several case reports, but epidemiological studies of large populations are lacking. This study evaluated the prevalence, clinical characteristics, and medical treatment in Chinese TA population with anemia.
