Cholesterol最新文献_第3页

Nonselective mevalonate kinase inhibitor as a novel class of antibacterial agents. 非选择性甲戊酸激酶抑制剂是一类新型抗菌剂。

Cholesterol Pub Date : 2015-01-01 Epub Date: 2015-01-26 DOI: 10.1155/2015/147601

Mohammad Gharehbeglou, Ghasem Arjmand, Mohammad Reza Haeri, Mohammad Khazeni

{"title":"Nonselective mevalonate kinase inhibitor as a novel class of antibacterial agents.","authors":"Mohammad Gharehbeglou, Ghasem Arjmand, Mohammad Reza Haeri, Mohammad Khazeni","doi":"10.1155/2015/147601","DOIUrl":"https://doi.org/10.1155/2015/147601","url":null,"abstract":"Introduction. There are a few evidences about targeting isoprenoids biosynthesis pathway in bacteria for finding new antibiotics. This study was conducted to assess antibacterial effects of vanadyl sulfate (VS), one of the mevalonate kinase inhibitors to find a new target for killing bacteria. Materials and Methods. Antibacterial effect of VS alone and in combination with glycine or EDTA was assessed on Escherichia coli and Pseudomonas aeruginosa as Gram-negative and Staphylococcus aureus and Enterococcus faecalis as Gram-positive bacteria using serial dilution method and minimum inhibitory concentrations (MICs) identified. Result. MICs for S. aureus and E. coli were 4 and 8 mg/mL, respectively. VS could not affect the growth of two other bacteria. However, VS in combination with glycine not only inhibited the growth of E. faecalis and P. aeruginosa, but also reduced MICs for VS-sensitive bacteria (S. aureus and E. coli). EDTA could reduce MIC for E. coli and P. aeruginosa. Conclusion. VS could inhibit the growth of S. aurous and E. coli, and adding glycine or EDTA improved VS antibacterial activity presumably via instability of the cell wall and enhanced transport of VS through bacterial cell wall. Inhibition of the isoprenoid pathway might provide new tools to overcome bacterial resistance. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2015 ","pages":"147601"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/147601","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33393833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Validation of the friedewald formula in patients with metabolic syndrome. 在代谢综合征患者中验证弗里德瓦尔德公式。

Cholesterol Pub Date : 2014-01-01 Epub Date: 2014-02-06 DOI: 10.1155/2014/261878

José Knopfholz, Caio César Diniz Disserol, Andressa Jardim Pierin, Fernanda Letícia Schirr, Larissa Streisky, Lilian Lumi Takito, Patrícia Massucheto Ledesma, José Rocha Faria-Neto, Marcia Olandoski, Claudio Leinig Pereira da Cunha, Antonio Milton Bandeira

{"title":"Validation of the friedewald formula in patients with metabolic syndrome.","authors":"José Knopfholz, Caio César Diniz Disserol, Andressa Jardim Pierin, Fernanda Letícia Schirr, Larissa Streisky, Lilian Lumi Takito, Patrícia Massucheto Ledesma, José Rocha Faria-Neto, Marcia Olandoski, Claudio Leinig Pereira da Cunha, Antonio Milton Bandeira","doi":"10.1155/2014/261878","DOIUrl":"10.1155/2014/261878","url":null,"abstract":"Currently, the Friedewald formula (FF) is the main method for evaluating low-density lipoprotein cholesterol (LDL-c). Recently, many limitations have emerged regarding its use, including patients with triglyceride levels ≥400 mg/dL, diabetes mellitus, and kidney or hepatic chronic diseases. We analyzed the use of the FF in patients with metabolic syndrome. We selected patients with known metabolic syndrome that fulfilled the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Final Report and excluded patients with triglyceride levels ≥400 mg/dL and chronic liver and/or kidney disease. Using direct assays, we measured total cholesterol, high-density lipoprotein cholesterol, triglycerides, and LDL-c. Then, LDL-c was estimated using the FF and compared with the LDL-c by direct assay. The sample size was 135 patients. Using the FF, the mean LDL-c value was 124.4 ± 42.1 mg/dL; it was 125.1 ± 38.5 mg/dL by direct assay. The correlation coefficient between these two methods was 0.89, with statistical significance (P value < 0.001). There were no significant differences between the patients with triglyceride levels >150 mg/dL (P = 0.618). In conclusion, FF is a good method for estimating LDL-c in patients with metabolic syndrome. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2014 ","pages":"261878"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32211842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe/Extreme Hypertriglyceridemia and LDL Apheretic Treatment: Review of the Literature, Original Findings. 严重/极端高甘油三酯血症和低密度脂蛋白的治疗:文献回顾，原始发现。

Cholesterol Pub Date : 2014-01-01 Epub Date: 2014-12-16 DOI: 10.1155/2014/109263

Olga Diakoumakou, Georgios Hatzigeorgiou, Nikos Gontoras, Maria Boutsikou, Vana Kolovou, Sophie Mavrogeni, Vassiliki Giannakopoulou, Genovefa D Kolovou

引用次数: 14

Association of the total cholesterol content of erythrocyte membranes with the severity of disease in stable coronary artery disease. 稳定型冠状动脉疾病中红细胞膜总胆固醇含量与疾病严重程度的关系

Cholesterol Pub Date : 2014-01-01 Epub Date: 2014-10-20 DOI: 10.1155/2014/821686

Gholamreza Namazi, Morteza Pourfarzam, Sabieh Jamshidi Rad, Ahmad Movahedian Attar, Nizal Sarrafzadegan, Masoumeh Sadeghi, Parastoo Asa

{"title":"Association of the total cholesterol content of erythrocyte membranes with the severity of disease in stable coronary artery disease.","authors":"Gholamreza Namazi, Morteza Pourfarzam, Sabieh Jamshidi Rad, Ahmad Movahedian Attar, Nizal Sarrafzadegan, Masoumeh Sadeghi, Parastoo Asa","doi":"10.1155/2014/821686","DOIUrl":"https://doi.org/10.1155/2014/821686","url":null,"abstract":"Increasing evidence suggests that erythrocytes may participate in atherogenesis. We sought to investigate whether the total cholesterol content of erythrocyte membranes (CEM) is significantly different in patients with stable coronary artery disease (CAD) compared to patients with nonsignificant coronary stenosis and determine the correlation between CEM and the severity of coronary stenosis. Methods. The population included 144 patients, undergoing clinically indicated coronary angiography. The severity of coronary stenosis was scored after coronary angiography and patients were divided into two groups; the S-stenosis group (CAD patients, n = 82) had a significant stenosis indicated by coronary angiography and the second group, N-stenosis (n = 62), had nonsignificant coronary stenosis. Lipid parameters were determined by routine laboratory methods. CEM was measured using an enzymatic assay, and protein content was assessed by the modified Lowry method. Results. The mean of CEM levels was higher (P < 0.001) in stable CAD patients (137.2 µg/mg of membrane protein) compared with N-stenosis patients (110.0 µg/mg of membrane protein). The coronary artery scores were correlated positively with CEM levels (r = 0.296, P < 0.001). Conclusion. CEM levels are positively associated with the severity of CAD, meaning that CEM might contribute to the development of CAD. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2014 ","pages":"821686"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/821686","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32817165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9

The Influence of an Obesogenic Diet on Oxysterol Metabolism in C57BL/6J Mice. 致肥性饮食对C57BL/6J小鼠氧甾醇代谢的影响

Cholesterol Pub Date : 2014-01-01 Epub Date: 2014-02-05 DOI: 10.1155/2014/843468

Joshua S Wooten, Huaizhu Wu, Joe Raya, Xiaoyuan Dai Perrard, John Gaubatz, Ron C Hoogeveen

{"title":"The Influence of an Obesogenic Diet on Oxysterol Metabolism in C57BL/6J Mice.","authors":"Joshua S Wooten, Huaizhu Wu, Joe Raya, Xiaoyuan Dai Perrard, John Gaubatz, Ron C Hoogeveen","doi":"10.1155/2014/843468","DOIUrl":"https://doi.org/10.1155/2014/843468","url":null,"abstract":"Our current understanding of oxysterol metabolism during different disease states such as obesity and dyslipidemia is limited. Therefore, the aim of this study was to determine the effect of diet-induced obesity on the tissue distribution of various oxysterols and the mRNA expression of key enzymes involved in oxysterol metabolism. To induce obesity, male C57BL/6J mice were fed a high fat-cholesterol diet for 24 weeks. Following diet-induced obesity, plasma levels of 4 β -hydroxycholesterol, 5,6 α -epoxycholesterol, 5,6 β -epoxycholesterol, 7 α -hydroxycholesterol, 7 β -hydroxycholesterol, and 27-hydroxycholesterol were significantly (P < 0.05) increased. In the liver and adipose tissue of the obese mice, 4 β -hydroxycholesterol was significantly (P < 0.05) increased, whereas 27-hydroxycholesterol was increased only in the adipose tissue. No significant changes in either hepatic or adipose tissue mRNA expression were observed for oxysterol synthesizing enzymes 4 β -hydroxylase, 27-hydroxylase, or 7 α -hydroxylase. Hepatic mRNA expression of SULT2B1b, a key enzyme involved in oxysterol detoxification, was significantly (P < 0.05) elevated in the obese mice. Interestingly, the appearance of the large HDL1 lipoprotein was observed with increased oxysterol synthesis during obesity. In diet-induced obese mice, dietary intake and endogenous enzymatic synthesis of oxysterols could not account for the increased oxysterol levels, suggesting that nonenzymatic cholesterol oxidation pathways may be responsible for the changes in oxysterol metabolism. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2014 ","pages":"843468"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/843468","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32211223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 25

A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene. ABCA1转运基因中非同义snp对功能和结构影响的综合计算机分析。

Cholesterol Pub Date : 2014-01-01 Epub Date: 2014-08-19 DOI: 10.1155/2014/639751

Francisco R Marín-Martín, Cristina Soler-Rivas, Roberto Martín-Hernández, Arantxa Rodriguez-Casado

{"title":"A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.","authors":"Francisco R Marín-Martín, Cristina Soler-Rivas, Roberto Martín-Hernández, Arantxa Rodriguez-Casado","doi":"10.1155/2014/639751","DOIUrl":"https://doi.org/10.1155/2014/639751","url":null,"abstract":"Disease phenotypes and defects in function can be traced to nonsynonymous single nucleotide polymorphisms (nsSNPs), which are important indicators of action sites and effective potential therapeutic approaches. Identification of deleterious nsSNPs is crucial to characterize the genetic basis of diseases, assess individual susceptibility to disease, determinate molecular and therapeutic targets, and predict clinical phenotypes. In this study using PolyPhen2 and MutPred in silico algorithms, we analyzed the genetic variations that can alter the expression and function of the ABCA1 gene that causes the allelic disorders familial hypoalphalipoproteinemia and Tangier disease. Predictions were validated with published results from in vitro, in vivo, and human studies. Out of a total of 233 nsSNPs, 80 (34.33%) were found deleterious by both methods. Among these 80 deleterious nsSNPs found, 29 (12.44%) rare variants resulted highly deleterious with a probability >0.8. We have observed that mostly variants with verified functional effect in experimental studies are correctly predicted as damage variants by MutPred and PolyPhen2 tools. Still, the controversial results of experimental approaches correspond to nsSNPs predicted as neutral by both methods, or contradictory predictions are obtained for them. A total of seventeen nsSNPs were predicted as deleterious by PolyPhen2, which resulted neutral by MutPred. Otherwise, forty two nsSNPs were predicted as deleterious by MutPred, which resulted neutral by PolyPhen2. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2014 ","pages":"639751"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/639751","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32661941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 14

Effects of Atorvastatin on Resting and Peak Exercise Blood Pressure among Normotensive Men and Women. 阿托伐他汀对正常血压男女静息和运动峰值血压的影响。

Cholesterol Pub Date : 2014-01-01 Epub Date: 2014-11-18 DOI: 10.1155/2014/720507

Amanda L Zaleski, Marianne L Mentch, Linda S Pescatello, Beth A Taylor, Jeffrey A Capizzi, Adam S Grimaldi, Priscilla M Clarkson, Stephanie A Moeckel-Cole, Stuart R Chipkin, Justin Keadle, Charles Michael White, Paul D Thompson

{"title":"Effects of Atorvastatin on Resting and Peak Exercise Blood Pressure among Normotensive Men and Women.","authors":"Amanda L Zaleski, Marianne L Mentch, Linda S Pescatello, Beth A Taylor, Jeffrey A Capizzi, Adam S Grimaldi, Priscilla M Clarkson, Stephanie A Moeckel-Cole, Stuart R Chipkin, Justin Keadle, Charles Michael White, Paul D Thompson","doi":"10.1155/2014/720507","DOIUrl":"https://doi.org/10.1155/2014/720507","url":null,"abstract":"Statins are the most widely prescribed and effective medication for reducing low density lipoprotein cholesterol. Statins may also lower resting blood pressure (BP); however, results are inconsistent. We sought to determine if the maximum dose of atorvastatin reduces resting BP and the peak systolic BP (SBP) achieved on a graded exercise stress test (GEST) among a large sample of 419 healthy men (48%) and women (52%). Subjects (419, 44.1 ± 0.8 yr) were double-blinded and randomized to 80 mg·d(-1) of atorvastatin (n = 202) or placebo (n = 217) for 6 mo. Among the total sample, there were no differences in resting BP (SBP, P = 0.30; diastolic BP [DBP], P = 0.69; mean arterial pressure (P = 0.76); or peak SBP on a GEST (P = 0.99)) over 6 mo, regardless of drug treatment group. However, among women on atorvastatin, resting SBP/DBP (3.7±1.5 mmHg, P = 0.01/3.2±0.9 mmHg, P = 0.02) and peak SBP on a GEST (6.5±1.5 mmHg, P = 0.04) were lower versus men. Atorvastatin lowered resting BP 3-4 mmHg and peak SBP on a GEST ~7 mmHg more among women than men over 6 mo of treatment. The inconsistent findings regarding the antihypertensive effects of statins may be partially explained by not accounting for sex effects. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2014 ","pages":"720507"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/720507","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32882662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Effects of Securigera securidaca Extract on Lipolysis and Adipogenesis in Diabetic Rats. 苦参提取物对糖尿病大鼠脂肪分解和脂肪生成的影响。

Cholesterol Pub Date : 2014-01-01 Epub Date: 2014-08-03 DOI: 10.1155/2014/582106

Ahmad Ghorbani, Reyhaneh Moradi Marjaneh, Ziba Rajaei, Mousa-Al-Reza Hadjzadeh

{"title":"Effects of Securigera securidaca Extract on Lipolysis and Adipogenesis in Diabetic Rats.","authors":"Ahmad Ghorbani, Reyhaneh Moradi Marjaneh, Ziba Rajaei, Mousa-Al-Reza Hadjzadeh","doi":"10.1155/2014/582106","DOIUrl":"https://doi.org/10.1155/2014/582106","url":null,"abstract":"Diabetes mellitus is associated with dysregulation of adipose tissue metabolism and increased level of serum lipids. In our previous work we found that Securigera securidaca decreases cholesterol level in blood of diabetic rats. The present study was carried out to further investigate the effects of this plant on lipid metabolism, lipolysis, and adipogenesis, in diabetic rats. Female Wistar rats were rendered diabetic by intraperitoneal injection of streptozotocin. Retroperitoneal adipose tissue was removed from diabetic animals after seven days of streptozotocin injection. Effect of hydroalcoholic extract of S. securidaca seeds (100-800 μg/mL) on adipose tissue lipolysis was evaluated in ex vivo condition. Also, to evaluate adipogenesis, preadipocytes were isolated from adipose tissue and differentiated to adipocytes in the presence of the extract. The extract at concentration of 800 μg/mL decreased both basal and catecholamine-stimulated lipolysis (P < 0.05). Incubation of differentiating preadipocytes with 800 μg/mL of S. securidaca extract decreased intracellular lipid droplet accumulation as evaluated with Oil Red O staining (P < 0.001). The extract even at high concentrations had no effect on viability of preadipocytes. In conclusion, S. securidaca decreases lipolysis and adipogenesis without cytotoxicity, which makes it a good candidate for management of dyslipidemia and reduction of cardiovascular risks in diabetes. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2014 ","pages":"582106"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/582106","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32617666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9

Low-Fat Nondairy Minidrink Containing Plant Stanol Ester Effectively Reduces LDL Cholesterol in Subjects with Mild to Moderate Hypercholesterolemia as Part of a Western Diet. 作为西方饮食的一部分，含有植物甾醇酯的低脂非乳制品迷你饮料可有效降低轻度至中度高胆固醇血症患者的低密度脂蛋白胆固醇。

Cholesterol Pub Date : 2013-01-01 Epub Date: 2013-09-16 DOI: 10.1155/2013/192325

Maarit Hallikainen, Johan Olsson, Helena Gylling

{"title":"Low-Fat Nondairy Minidrink Containing Plant Stanol Ester Effectively Reduces LDL Cholesterol in Subjects with Mild to Moderate Hypercholesterolemia as Part of a Western Diet.","authors":"Maarit Hallikainen, Johan Olsson, Helena Gylling","doi":"10.1155/2013/192325","DOIUrl":"https://doi.org/10.1155/2013/192325","url":null,"abstract":"The cholesterol-lowering efficacy of plant stanol ester (STAEST) added to fat- or milk-based products is well documented. However, their efficacy when added to nondairy liquid drinks is less certain. Therefore, we have investigated the cholesterol-lowering efficacy of STAEST added to a soymilk-based minidrink in the hypercholesterolemic subjects. In a randomized, double-blind, placebo-controlled parallel study, the intervention group (n = 27) consumed 2.7 g/d of plant stanols as the ester in soymilk-based minidrink (65 mL/d) with the control group (n = 29) receiving the same drink without added plant stanols once a day with a meal for 4 weeks. Serum total, LDL, and non-HDL cholesterol concentrations were reduced by 8.0, 11.1, and 10.2% compared with controls (P < 0.05 for all). Serum plant sterol concentrations and their ratios to cholesterol declined by 12-25% from baseline in the STAEST group while the ratio of campesterol to cholesterol was increased by 10% in the controls (P < 0.05 for all). Serum precursors of cholesterol remained unchanged in both groups. In conclusion, STAEST-containing soymilk-based low-fat minidrink consumed once a day with a meal lowered LDL and non-HDL cholesterol concentrations without evoking any side effects in subjects consuming normal Western diet. The clinical trial registration number is NCT01716390. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":" ","pages":"192325"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/192325","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40260145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 荷兰家族性高胆固醇血症基因检测的质量评估

Cholesterol Pub Date : 2013-01-01 Epub Date: 2013-07-08 DOI: 10.1155/2013/531658

Iris Kindt, Roeland Huijgen, Marieke Boekel, Kristiaan J van der Gaag, Joep C Defesche, John J P Kastelein, Peter de Knijff

{"title":"Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.","authors":"Iris Kindt, Roeland Huijgen, Marieke Boekel, Kristiaan J van der Gaag, Joep C Defesche, John J P Kastelein, Peter de Knijff","doi":"10.1155/2013/531658","DOIUrl":"https://doi.org/10.1155/2013/531658","url":null,"abstract":"Introduction. Familial hypercholesterolemia (FH) is an inherited disorder associated with a severely increased risk of cardiovascular disease. Although DNA test results in FH are associated with important medical and ethical consequences, data on accuracy of genetic tests is scarce. Methods. Therefore, we performed a prospective study to assess the overall accuracy of the DNA test used in the genetic cascade screening program for FH in The Netherlands. Individuals aged 18 years and older tested for one of the 5 most prevalent FH mutations, were included consecutively. DNA samples were analyzed by the reference and a counter-expertise laboratory following a standardized procedure. Results. 1003 cases were included. In the end, 317 (32%) carried an FH mutation, whereas in 686 (69%) samples no mutation was found. The overall accuracy of the reference laboratory was 99.8%, with two false positive results identified by the counter-expertise laboratory. Conclusion. The currently used mutation analysis is associated with a very low error rate. Therefore, we do not recommend routine use of duplicate testing. ","PeriodicalId":72589,"journal":{"name":"Cholesterol","volume":"2013 ","pages":"531658"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/531658","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31649701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8