Seminars in vascular medicine最新文献_第10页

Depressive disorders and the metabolic syndrome of insulin resistance. 抑郁症和胰岛素抵抗的代谢综合征。

Seminars in vascular medicine Pub Date : 2004-05-01 DOI: 10.1055/s-2004-835374

Barbora Petrlová, Hana Rosolova, Zdenek Hess, Jirí Podlipný, Jaroslav Simon

{"title":"Depressive disorders and the metabolic syndrome of insulin resistance.","authors":"Barbora Petrlová, Hana Rosolova, Zdenek Hess, Jirí Podlipný, Jaroslav Simon","doi":"10.1055/s-2004-835374","DOIUrl":"https://doi.org/10.1055/s-2004-835374","url":null,"abstract":"Metabolic syndrome of insulin resistance and depression are both considered important cardiovascular risk factors. The aim of this study was to ascertain a possible association between these conditions in a population sample of 116 subjects (54 males, 62 females, aged 60 +/- 8 and 60 +/- 9 years, respectively). A standard questionnaire-the Hospital Anxiety Depression Scale-was used for the assessment of depressive disorder and clinical definition of insulin resistance, requiring the presence of three or more of the following factors: triglycerides > 1.7 mmol/L; and high-density lipoprotein cholesterol < 1.0 mmol/L; blood pressure >/= 130/85 mm Hg; waist circumference > 102 cm in males and > 88 cm in females; fasting glucose 6.1-7.8 mmol/L. Depressive disorders prevailed significantly more in women than in men (39% and 26%, respectively), and prevalence of depression in subjects with metabolic syndrome of insulin resistance (by definition) was about four times higher than in subjects without depression. Depressive subjects had also higher heart rate, waist circumference, lower high-density lipoprotein cholesterol, higher triglycerides, and higher body mass index. Higher sympathetic nervous activity in insulin-resistant subjects with depression was indicated.","PeriodicalId":87139,"journal":{"name":"Seminars in vascular medicine","volume":"4 2","pages":"161-5"},"PeriodicalIF":0.0,"publicationDate":"2004-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2004-835374","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40913900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 23

Case-finding for familial hypercholesterolemia in the Asia-Pacific region. 亚太地区家族性高胆固醇血症的病例发现

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822990

Ian Hamilton-Craig

引用次数: 31

Diagnostic, clinical, and therapeutic aspects of familial hypercholesterolemia in children. 儿童家族性高胆固醇血症的诊断、临床和治疗方面。

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822986

Leiv Ose

{"title":"Diagnostic, clinical, and therapeutic aspects of familial hypercholesterolemia in children.","authors":"Leiv Ose","doi":"10.1055/s-2004-822986","DOIUrl":"https://doi.org/10.1055/s-2004-822986","url":null,"abstract":"The clinical diagnosis of familial hypercholesterolemia (FH) in children is based on family history and laboratory findings. The best available value of low-density lipoprotein cholesterol (LDL-C) for the diagnosis of FH in children is >3.50 mmol/L (>135 mg/dL) when FH runs in the family. Levels below this concentration were only found in 4.3% of children that had a mutation in the LDL-receptor gene. In contrast, children with LDL-C equal to or above 3.50 mmol/L had 0.98 posttest probability of FH. Untreated FH carries a substantial burden of morbidity and mortality if left untreated or if inadequately treated. The guidelines of the American National Cholesterol Education Program suggested that drug treatment should be considered from the age of 10 years if LDL-C levels are greater than or equal to 4.9 mmol/L (190 mg/dL) or greater than or equal to 4.1 mmol/L (158 mg/dL) in the presence of other cardiovascular risk factors, including a positive family history of premature cardiovascular disease. Impaired flow mediated dilatation was more pronounced in FH children with a positive family history of premature cardiovascular disease. The currently prescribed diet is sometimes considered to be monotonous and can lead to problems with compliance. A reduction of the total intake fat and saturated fatty acids is important. Plant sterolesters should be evaluated in young FH children and can supplement drug and diet therapy, with an additional reduction of 10 to 15% of LDL-C. The use of resins leads to poor compliance, and statins are recommended for FH children and adolescents when drug treatment is indicated. Pravastatin, simvastatin, and atorvastatin decrease LDL-C 30 to 40% without serious adverse events and have a high degree of compliance.","PeriodicalId":87139,"journal":{"name":"Seminars in vascular medicine","volume":"4 1","pages":"51-7"},"PeriodicalIF":0.0,"publicationDate":"2004-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2004-822986","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24568630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 15

Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 应用分子遗传学诊断家族性高胆固醇血症在挪威:结果从家庭为基础的筛选程序。

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822989

Trond P Leren, Turid Manshaus, Unn Skovholt, Tove Skodje, Inger Esther Nossen, Christél Teie, Stine Sørensen, Kari Solberg Bakken

{"title":"Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.","authors":"Trond P Leren, Turid Manshaus, Unn Skovholt, Tove Skodje, Inger Esther Nossen, Christél Teie, Stine Sørensen, Kari Solberg Bakken","doi":"10.1055/s-2004-822989","DOIUrl":"https://doi.org/10.1055/s-2004-822989","url":null,"abstract":"A total of 119 different mutations in the low-density lipoprotein-receptor gene have so far been found to cause familial hypercholesterolemia (FH) among Norwegian patients. As of April 2003, 2390 patients from 959 unrelated families were provided with a molecular genetic diagnosis. Of these, 25.3% had xanthomas and 8.4% had xanthelasma. During the last 2-3 years, a systematic family-based program to identify close relatives of FH patients has been established. A total of 851 relatives of 188 index patients have undergone genetic testing. Four hundred seven people (47.9%) were affected, and 444 (52.1%) were unaffected. Only 41.5% of those affected were on lipid-lowering drugs, and only 6.1% had a value for total serum cholesterol below 193 mg/dL (5.0 mmol/L). A follow-up study was conducted in 146 of 407 affected relatives 6 months after genetic testing was performed. Of those already under treatment at the time of genetic testing, nonsignificant reductions of total serum cholesterol and low-density lipoprotein cholesterol of 3.2% and 7.1% were observed. Of those not under treatment who were aged 18 years and older, the corresponding reductions were 21.2% (p <.0001) and 30.0% (p <.0001), respectively. We conclude that molecular genetic methods represent a feasible and highly efficient tool in a family-based strategy to diagnose FH.","PeriodicalId":87139,"journal":{"name":"Seminars in vascular medicine","volume":"4 1","pages":"75-85"},"PeriodicalIF":0.0,"publicationDate":"2004-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2004-822989","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24568501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. 西班牙家族性高胆固醇血症:病例发现程序，临床和遗传方面。

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822988

Miguel Pocovi, Fernando Civeira, Rodrigo Alonso, Pedro Mata

{"title":"Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects.","authors":"Miguel Pocovi, Fernando Civeira, Rodrigo Alonso, Pedro Mata","doi":"10.1055/s-2004-822988","DOIUrl":"https://doi.org/10.1055/s-2004-822988","url":null,"abstract":"A case-finding program for the identification of patients with familial hypercholesterolemia (FH) has been established in Spain. The program is based on family investigation and molecular genetic testing for mutations in the low-density lipoprotein receptor gene. To assist this program, intensive research into the molecular basis of FH and genotype/phenotype relations is performed. To optimize DNA testing, a DNA-diagnostic platform has been constructed that is composed of systematic mutation screening by single-strand conformation polymorphism (SSCP) analysis, DNA-sequencing, Southern blotting, and the use of microarrays for high-throughput analysis. To date, 161 different mutations leading to inherited hypercholesterolemia have been identified in Spanish patients with FH. In addition, a patient organization was founded to ensure patient support and follow-up. To further facilitate FH case-finding and patient follow-up, we initiated the publication of a set of guidelines for diagnosis and clinical management of FH that can be applied internationally.","PeriodicalId":87139,"journal":{"name":"Seminars in vascular medicine","volume":"4 1","pages":"67-74"},"PeriodicalIF":0.0,"publicationDate":"2004-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2004-822988","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24568632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 66

Homozygous familial hypercholesterolemia and its management. 纯合子家族性高胆固醇血症及其管理。

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822985

Adrian David Marais, Jean Catherine Firth, Dirk Jacobus Blom

{"title":"Homozygous familial hypercholesterolemia and its management.","authors":"Adrian David Marais, Jean Catherine Firth, Dirk Jacobus Blom","doi":"10.1055/s-2004-822985","DOIUrl":"https://doi.org/10.1055/s-2004-822985","url":null,"abstract":"Mutations in the low-density lipoprotein (LDL) receptor gene cause familial hypercholesterolemia. In homozygous familial hypercholesterolemia, both genes for the LDL- receptor are mutated and LDL levels are markedly elevated. High-density lipoprotein cholesterol concentration is often reduced and lipoprotein(a) levels are high when corrected for apolipoprotein(a) isoforms. Cutaneous and tendinous xanthomata develop in childhood and are the most common reason for initial presentation. The diagnosis can be confirmed by analysis of LDL-receptor genes or studies of LDL receptor function in cultured cells. Severe aortic and coronary atherosclerosis usually occurs within the first or second decades of life. Left ventricular outflow tract obstruction may be at the level of the aortic valve or the supravalvar aorta. Treatment for the hyperlipidemia is with plasmapheresis, high-dose statins, and ezetimibe. Liver transplantation reverses the metabolic defect but requires chronic immunosupression, and rejection may still occur. Liver transplantation is indicated if cardiac transplantation becomes necessary. Portocaval shunt may still play a role in patients with coronary artery disease who do not have access to plasmapheresis. Gene therapy is currently not practicable but is being actively developed.","PeriodicalId":87139,"journal":{"name":"Seminars in vascular medicine","volume":"4 1","pages":"43-50"},"PeriodicalIF":0.0,"publicationDate":"2004-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2004-822985","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24568628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 59

Low-density lipoprotein receptor--its structure, function, and mutations. 低密度脂蛋白受体的结构、功能和突变。

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822993

Joep C Defesche

{"title":"Low-density lipoprotein receptor--its structure, function, and mutations.","authors":"Joep C Defesche","doi":"10.1055/s-2004-822993","DOIUrl":"https://doi.org/10.1055/s-2004-822993","url":null,"abstract":"Uptake of cholesterol, mediated by the low-density lipoprotein (LDL)-receptor, plays a crucial role in lipoprotein metabolism. The LDL-receptor is responsible for the binding and subsequent cellular uptake of apolipoprotein B- and E-containing lipoproteins. To accomplish this, the receptor has to be transported from the site of synthesis, the membranes of the rough endoplasmatic reticulum (ER), through the Golgi apparatus, to its position on the surface of the cellular membrane. The translation of LDL-receptor messenger RNA into the polypeptide chain for the receptor protein takes place on the surface-bound ribosomes of the rough ER. Immature O-linked carbohydrate chains are attached to this integral precursor membrane protein. The molecular weight of the receptor at this stage is 120.000 d. The precursor-protein is transported from the rough ER to the Golgi apparatus, where the O-linked sugar chains are elongated until their final size is reached. The molecular weight has then increased to 160.000 d. The mature LDL-receptor is subsequently guided to the \"coated pits\" on the cell surface. These specialized areas of the cell membrane are rich in clathrin and interact with the LDL-receptor protein. Only here can the LDL-receptor bind LDL-particles. Within 3 to 5 minutes of its formation, the LDL-particle-receptor complex is internalized through endocytosis and is further metabolized through the receptor-mediated endocytosis pathway. Mutations in the gene coding for the LDL-receptor can interfere to a varying extent with all the different stages of the posttranslational processing, binding, uptake, and subsequent dissociation of the LDL-particle-LDL-receptor complex, but invariably the mutations lead to familial hypercholesterolemia. Thus, mutations in the LDL-receptor gene give rise to a substantially varying clinical expression of familial hypercholesterolemia.","PeriodicalId":87139,"journal":{"name":"Seminars in vascular medicine","volume":"4 1","pages":"5-11"},"PeriodicalIF":0.0,"publicationDate":"2004-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2004-822993","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24569364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 62

Review Questions 审查问题

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-832707

引用次数: 0

Laboratory-based assessment of plasma lipids and lipoproteins for the classification of familial hypercholesterolemic and hypertriglyceridemic states. 家族性高胆固醇血症和高甘油三酯血症状态的血脂和脂蛋白分类的实验室评估。

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822982

Pierre N M Demacker

引用次数: 1

Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. 荷兰家族性高胆固醇血症基因筛查项目的成本-效果分析。

Seminars in vascular medicine Pub Date : 2004-02-01 DOI: 10.1055/s-2004-822992

David Wonderling, Marina A W Umans-Eckenhausen, Dalya Marks, Joep C Defesche, John J P Kastelein, Margaret Thorogood

{"title":"Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands.","authors":"David Wonderling, Marina A W Umans-Eckenhausen, Dalya Marks, Joep C Defesche, John J P Kastelein, Margaret Thorogood","doi":"10.1055/s-2004-822992","DOIUrl":"https://doi.org/10.1055/s-2004-822992","url":null,"abstract":"Familial hypercholesterolemia (FH) is associated with pronounced atherosclerosis leading to premature cardiovascular disease and untimely death. Despite the availability of effective preventative drug treatments, many affected individuals remain undiagnosed and untreated until they become symptomatic with cardiovascular disease. To assess the cost-effectiveness of systematic genetic screening of family members of persons diagnosed with FH, an analysis was conducted using data from a nationwide screening program for the identification of individuals with FH, instituted in The Netherlands in 1994, and from other sources. There was DNA testing of families with a known genetic defect to identify new cases of FH in the presymptomatic stage of the disease. After identification, most newly identified patients were started on cholesterol-lowering statin treatment. On average, new cases diagnosed by the screening program gained 3.3 years of life each. Twenty-six myocardial infarctions would be avoided for every 100 persons treated with statins between the ages of 18 and 60 years. The average total lifetime incremental costs, over all age ranges and both sexes, including costs for screening and testing, lifetime drug treatment, and treatment of cardiovascular events, was US dollars 7500 per new case identified. Cost per life-year gained was US dollars 8700. Therefore, systematic genetic screening of family members of persons diagnosed with FH is cost-effective in The Netherlands and should be considered for other settings.","PeriodicalId":87139,"journal":{"name":"Seminars in vascular medicine","volume":"4 1","pages":"97-104"},"PeriodicalIF":0.0,"publicationDate":"2004-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2004-822992","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24568505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 139