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
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 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 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
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 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 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.
