Apolipoproteins B

载脂蛋白 B
  • 文章类型: Meta-Analysis
    已经研究了烟酸对脂质代谢和心血管健康的潜在影响。这项荟萃分析旨在系统评估烟酸干预对载脂蛋白A1(ApoA1)和载脂蛋白B(ApoB)水平的影响。脂蛋白代谢和心血管风险标志物的关键调节因子。在PubMed的五个数据库上进行了文献的全面搜索,Scopus,WebofScience,Embase和Cochrane图书馆,从成立到2023年7月15日。此搜索确定了1452种出版物,其中12项随机对照试验(RCT)符合纳入标准.干预剂量范围为500至3000毫克/天,研究持续时间为6到102.8周。烟酸干预表明ApoB水平显着降低(WMD:-24.37mg/dl,p=0.01)。亚组分析表明,干预持续时间起作用,≤16周的试验显示ApoB的减少更大。关于ApoA1,烟酸显着增加其水平(WMD:8.23mg/dl,p<0.001)。亚组分析显示,烟酸对ApoA1的有益作用在剂量>1500mg/天(p<0.001)。与其他形式相比,延长释放的烟酸更有效(p<0.001)。根据Begg\的回归测试,本系统综述和荟萃分析未观察到发表偏倚.这项荟萃分析强调了烟酸在改善血脂和心血管健康方面的潜在作用。需要进一步精心设计的临床试验来阐明和确认影响载脂蛋白A1和B的烟酸干预措施的最佳剂量和持续时间。
    Niacin has been investigated for its potential impact on lipid metabolism and cardiovascular health. This meta-analysis aims to systematically evaluate the effects of niacin interventions on apo A1 and apo B levels, key regulators of lipoprotein metabolism and markers of cardiovascular risk. A comprehensive search of the literature was performed on five databases of PubMed, Scopus, Web of Science, Embase and Cochrane library, from inception up to 15 July 2023. This search identified 1452 publications, from which twelve randomised controlled trials met the inclusion criteria. The intervention dosages ranged from 500 to 3000 mg/d, and the study durations spanned from 6 to 102·8 weeks. The niacin intervention demonstrated a significant reduction in apo B levels (weighted mean differences (WMD): -24·37 mg/dl, P = 0·01). Subgroup analyses indicated that intervention duration played a role, with trials of ≤ 16 weeks showing a greater reduction in apo B. Regarding apo A1, niacin significantly increased its levels (WMD: 8·23 mg/dl, P < 0·001). Subgroup analyses revealed that the beneficial effects of niacin on apo A1 were observed at a dosage of > 1500 mg/d (P < 0·001), and extended-release niacin was more effective compared with other forms (P < 0·001). According to the Begg\'s regression test, no publication bias was observed in this systematic review and meta-analysis. This meta-analysis highlights niacin\'s potential role in improving lipid profiles and cardiovascular health. Further well-designed clinical trials are needed to elucidate and confirm optimal dosages and durations of niacin interventions for influencing apo A1 and B.
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  • 文章类型: Meta-Analysis
    为了量化跟踪从儿童和青少年的载脂蛋白B(apoB)水平,并比较apoB与低密度脂蛋白(LDL)胆固醇的跟踪,系统搜索MEDLINE,Embase,WebofScience,GoogleScholar于2023年10月执行(PROSPERO协议:CRD42022298663)。队列研究测量了从儿童/青春期(<19岁)开始的apoB追踪,最少随访1年,使用跟踪估计,如相关系数或跟踪系数,有资格。使用随机效应荟萃分析估计集合相关性。使用特定的审查工具评估偏倚风险。涉及4677名参与者的8个独特队列的10项研究符合纳入标准。观察到apoB的跟踪(合并r=0.63;95%置信区间[CI]=0.53-0.71;I2=96%),没有发现明显的异质性来源。来自具有两种脂质跟踪数据的五个队列的数据显示,apoB(合并r=0.59;95%CI=0.55-0.63)和LDL胆固醇(合并r=0.58;95%CI=0.47-0.68)的跟踪程度相似。偏倚的研究风险中等,主要是由于减员和报告不足。
    结论:ApoB水平从儿童时期就有很强的追踪,但在这方面不要超过LDL胆固醇。虽然有强有力的证据表明,apoB在预测成人ASCVD风险方面比LDL胆固醇更有效,目前没有足够的证据支持其在儿科环境中增加的效用.这也适用于跟踪数据,需要更全面的数据。
    背景:•载脂蛋白B是动脉粥样硬化性心血管疾病的已知原因。•载脂蛋白B水平通常不在儿科环境中测量,低密度脂蛋白胆固醇仍然是主要的脂质筛查措施。
    背景:•这项对10项研究的荟萃分析显示,从儿童时期开始,载脂蛋白B水平得到了很好的追踪,但在这方面并未超过低密度脂蛋白胆固醇。•需要更全面的跟踪数据来提供足够的证据来证明载脂蛋白B在儿科环境中的效用增加。
    To quantify the tracking of apolipoprotein B (apoB) levels from childhood and adolescence and compare the tracking of apoB with low-density lipoprotein (LDL) cholesterol, a systematic search of MEDLINE, Embase, Web of Science, and Google Scholar was performed in October 2023 (PROSPERO protocol: CRD42022298663). Cohort studies that measured tracking of apoB from childhood/adolescence (< 19 years) with a minimum follow-up of 1 year, using tracking estimates such as correlation coefficients or tracking coefficients, were eligible. Pooled correlations were estimated using random-effects meta-analysis. Risk of bias was assessed with a review-specific tool. Ten studies of eight unique cohorts involving 4677 participants met the inclusion criteria. Tracking of apoB was observed (pooled r = 0.63; 95% confidence interval [CI] = 0.53-0.71; I2 = 96%) with no significant sources of heterogeneity identified. Data from five cohorts with tracking data for both lipids showed the degree of tracking was similar for apoB (pooled r = 0.59; 95% CI = 0.55-0.63) and LDL cholesterol (pooled r = 0.58; 95% CI = 0.47-0.68). Study risk of bias was moderate, mostly due to attrition and insufficient reporting.
    CONCLUSIONS: ApoB levels track strongly from childhood, but do not surpass LDL cholesterol in this regard. While there is strong evidence that apoB is more effective at predicting ASCVD risk than LDL cholesterol in adults, there is currently insufficient evidence to support its increased utility in pediatric settings. This also applies to tracking data, where more comprehensive data are required.
    BACKGROUND: • Apolipoprotein B is a known cause of atherosclerotic cardiovascular disease. • Apolipoprotein B levels are not typically measured in pediatric settings, where low-density lipoprotein cholesterol remains the primary lipid screening measure.
    BACKGROUND: • This meta-analysis of 10 studies showed apolipoprotein B levels tracked strongly from childhood but did not exceed low-density lipoprotein cholesterol in this regard. • More comprehensive tracking data are needed to provide sufficient evidence for increased utility of apolipoprotein B in pediatric settings.
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  • 文章类型: Meta-Analysis
    为了研究菜籽油对身体成分的影响,与其他食用油相比,超重和肥胖人群的血糖和脂质代谢。我们在8个数据库中搜索了随机对照研究(包括随机交叉试验)。使用CochraneBias2.0工具评估纳入研究的偏倚风险。使用建议评估开发和评估(GRADE)标准来评估结果的质量。使用物理治疗证据数据库(PEDro)量表评估纳入研究的方法学质量。敏感性分析用于检查合并结果的稳定性。使用ReviewManager5.3软件进行统计分析。因此,本研究纳入了15项随机对照研究(包括6项平行研究和9项交叉研究).与其他食用油相比,菜籽油显着降低低密度脂蛋白胆固醇(LDL-C)(MD=-0.14mmol/L,95%CI:-0.21,-0.08,I2=0%,P<0.0001),载脂蛋白B(ApoB)(MD=-0.03g/L,95%CI:-0.05,-0.01,I2=0%,P=0.0003),ApoB/ApoA1(MD=-0.02,95%CI:-0.04,-0.00,I2=0%,P=0.02)和胰岛素(MD=-12.45pmol/L,95%CI:-19.61,-5.29,I2=37%,P=0.0007)级,空腹血糖升高(MD=0.16mmol/L,95%CI:0.05,0.27,I2=27%,P=0.003)水平。然而,菜籽油和对照油之间的体重和身体成分差异不显著。一句话,菜籽油可有效降低LDL-C,超重和肥胖人群的ApoB和ApoB/ApoA1水平,这有助于预防和降低动脉粥样硬化的风险。PROSPERO注册号:CRD42022333436。
    To investigate the effects of rapeseed oil on body composition, blood glucose and lipid metabolism in people with overweight and obesity compared to other cooking oils. We searched eight databases for randomized controlled studies (including randomized crossover trials). The risk of bias for the included studies was assessed using the Cochrane Risk of Bias 2.0 tool. The Grading of Recommendations Assessment Development and Evaluation (GRADE) criteria were used to evaluate the quality of the outcomes. The methodological quality of the included studies was assessed using the Physiotherapy Evidence Database (PEDro) scale. Sensitivity analysis was used to check the stability of the pooled results. Statistical analysis was carried out using Review Manager 5.3 software. As a result, fifteen randomized controlled studies (including six parallel studies and nine crossover studies) were included in this study. Compared to other edible oils, rapeseed oil significantly reduced low density lipoprotein cholesterol (LDL-C) (MD = -0.14 mmol/L, 95% CI: -0.21, -0.08, I2 = 0%, P < 0.0001), apolipoprotein B (ApoB) (MD = -0.03 g/L, 95% CI: -0.05, -0.01, I2 = 0%, P = 0.0003), ApoB/ApoA1 (MD = -0.02, 95% CI: -0.04, -0.00, I2 = 0%, P = 0.02) and insulin (MD = -12.45 pmol/L, 95% CI: -19.61, -5.29, I2 = 37%, P = 0.0007) levels, and increased fasting glucose (MD = 0.16 mmol/L, 95% CI: 0.05, 0.27, I2 = 27%, P = 0.003) levels. However, the differences in body weight and body composition between rapeseed oil and control oils were not significant. In a word, rapeseed oil is effective in reducing LDL-C, ApoB and ApoB/ApoA1 levels in people with overweight and obesity, which is helpful in preventing and reducing the risk of atherosclerosis. PROSPERO registration number: CRD42022333436.
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  • 文章类型: Systematic Review
    目的:本研究的目的是全面评估幼年特发性关节炎(JIA)患者的血脂状况。
    方法:检索已发表的关于JIA与血脂水平关系的临床研究文献和相关综述。采用纽卡斯尔-渥太华量表(NOS)对纳入病例对照和队列研究的风险和方法学价值进行评估。使用足够的未经处理的数据得出所有变量的标准化平均差(SMD)和95%置信区间。该荟萃分析遵循系统评价和荟萃分析(PRISMA)指南的首选报告项目。
    结果:总计,通过筛选纳入16项研究。分析结果显示,极低密度脂蛋白胆固醇水平[SMD=-0.411,95%CI(-0.774~-0.048),P=0.026],高密度脂蛋白胆固醇[SMD=-0.528,95%CI(-0.976~-0.079),P=0.021],和载脂蛋白A1[SMD=-1.050,95%CI(-1.452~-0.647),JIA患者的P=0.000]在统计学上低于健康对照组。低密度脂蛋白胆固醇水平[SMD=0.202,95%CI(0.003~0.400),JIA患者的P=0.046]明显高于健康对照组。在JIA患者中,体重指数[SMD=-0.189,95%CI(-0.690~0.311),P=0.459],高密度脂蛋白[SMD=-1.235,95%CI(-2.845~0.374),P=0.133),低密度脂蛋白[SMD=0.616,95%CI(-0.813~2.046),P=0.398),甘油三酯(SMD=0.278,95%CI(-0.182~0.738),P=0.236],总胆固醇[SMD=-0.073,95%CI(-0.438~0.293),P=0.696]和载脂蛋白B水平[SMD=0.226,95%CI(-0.133~0.585),P=0.217]与健康对照组无显著差异。
    结论:这项荟萃分析的结果表明,与健康对照组相比,JIA患者的血脂异常很常见。JIA患者在以后的生活中患动脉粥样硬化和心血管疾病的风险显着增加。
    OBJECTIVE: The purpose of this study was to comprehensively evaluate the lipid profiles in patients with juvenile idiopathic arthritis (JIA).
    METHODS: The literature and relevant reviews were searched for published clinical studies on the relationship between JIA and blood lipid levels. The Newcastle-Ottawa scale (NOS) was applied to evaluate the risk and methodological value of the included case‒control and cohort studies. Standardized mean differences (SMDs) and 95% confidence intervals were derived for all variables with adequate unprocessed data. This meta-analysis followed the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines.
    RESULTS: In total, 16 studies were incorporated through screening. The analysis findings revealed that the levels of very low-density lipoprotein cholesterol [SMD=-0.411, 95% CI (-0.774~-0.048), P = 0.026], high-density lipoprotein cholesterol [SMD=-0.528, 95% CI (-0.976~-0.079), P = 0.021], and apolipoprotein A1 [SMD=-1.050, 95% CI (-1.452~-0.647), P = 0.000] in JIA patients were statistically lower than those observed in healthy controls. The level of low-density lipoprotein cholesterol [SMD = 0.202, 95% CI (0.003 ~ 0.400), P = 0.046] was significantly higher in JIA patients than in healthy controls. In JIA patients, body mass index [SMD=-0.189, 95% CI (-0.690 ~ 0.311), P = 0.459], high-density lipoprotein [SMD =-1.235, 95% CI (-2.845 ~ 0.374), P = 0.133), low-density lipoprotein [SMD = 0.616, 95% CI (-0.813 ~ 2.046), P = 0.398), triglycerides (SMD = 0.278, 95% CI (-0.182 ~ 0.738), P = 0.236], total cholesterol [SMD=-0.073, 95% CI (-0.438 ~ 0.293), P = 0.696] and apolipoprotein B levels [SMD = 0.226, 95% CI (-0.133 ~ 0.585), P = 0.217] were not significantly different from those in healthy controls.
    CONCLUSIONS: The outcomes of this meta-analysis suggest that dyslipidemia is common in JIA patients compared to healthy controls. Patients with JIA have a significantly increased risk of atherosclerosis and cardiovascular disease later in life.
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  • 文章类型: Journal Article
    遗传易感性和饮食因素会影响心血管疾病(CVD)的风险。评估CVD风险的两个重要标记是载脂蛋白(apo)B和载脂蛋白A1血浆水平。这些标记以比率测量,高apoB:apoA1比值与CVD风险增加相关。饮食和生活方式建议是管理一级和二级CVD风险缓解策略的基石。评估各种饮食和生活方式干预对CVD风险的影响的一种方法是评估CVD风险标志物的变化。比如apoB,apoA1和apoB:apoA1比值。各种人体研究已经证明了饮食的影响,大量营养素,和微量营养素干预对apoB和apoA1状态的影响。这篇综述旨在阐明饮食,大量营养素,微量营养素,以及影响apoB和apoA1水平的营养遗传学因素。低碳水化合物,高饱和脂肪饮食,低纤维摄入量,维生素和矿物质摄入量低,锌和铁缺乏与apoB:apoA1比值升高有关。地中海饮食,纯素饮食,发酵乳制品,降低糖的摄入量,更高的蛋白质摄入量,多不饱和脂肪摄入量较高,富含omega-3的饮食与apoB:apoA1比率降低有关。与apoB:apoA1比率降低相关的微量营养素包括维生素D充足,血清维生素C增加,镁。APOE中的变体,APOA1和FADS2基因可能会响应于各种饮食干预而改变apoB:apoA1比率。当考虑可能有利地改变apoB:apoA1比率的因素时,研究人员应该考虑多不饱和脂肪的健康饮食,维生素,矿物,微量矿物质,减少多余的糖。
    Genetic predisposition and dietary factors can impact cardiovascular disease (CVD) risk. Two important markers in assessing CVD risk are apolipoprotein (apo) B and apolipoprotein A1 plasma levels. These markers are measured as a ratio, with a high apoB:apoA1 ratio associated with increased CVD risk. Dietary and lifestyle recommendations are the cornerstone of managing primary and secondary CVD risk-mitigation strategies. One way to assess the impact of various dietary and lifestyle interventions on CVD risk is to evaluate the changes in CVD risk markers, such as apoB, apoA1, and apoB:apoA1 ratio. Various human studies have demonstrated the impact of dietary, macronutrient, and micronutrient interventions on apoB and apoA1 status. This review aims to elucidate dietary, macronutrient, micronutrient, and nutrigenetic considerations for impacting apoB and apoA1 levels. A low-carbohydrate, high-saturated-fat diet, low fiber intake, low vitamin and mineral intake, and zinc and iron deficiency are associated with an elevated apoB:apoA1 ratio. The Mediterranean diet, vegan diet, fermented dairy products, lower sugar intake, higher protein intake, higher polyunsaturated fat intake, and an omega-3-rich diet are associated with a decreased apoB:apoA1 ratio. Micronutrients associated with a decreased apoB:apoA1 ratio include vitamin D sufficiency, increased serum vitamin C, and magnesium. Variants in the APOE, APOA1, and FADS2 genes may alter the apoB:apoA1 ratio in response to various dietary interventions. When accounting for factors that may favorably alter the apoB:apoA1 ratio, researchers should consider a healthy diet sufficient in polyunsaturated fats, vitamins, minerals, trace minerals, and lower excess sugars.
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  • 文章类型: Meta-Analysis
    目的:载脂蛋白和脂蛋白(a)与各种心脏代谢疾病有关,包括胰岛素抵抗,糖尿病,高血压,血脂异常,在其他人中。进行了系统评价和荟萃分析,以评估这些标志物与代谢综合征(MetS)的相关性。
    方法:我们通过PubMed进行了系统的搜索,Scopus,Embase,Ovid/Medline,和WebofScience于2023年3月15日。未应用语言或日期限制。报告的唯一综合效应指标是比值比(OR)及其相应的95%置信区间(95%CI)。我们利用随机效应模型进行了定量合成。
    结果:我们分析了50项具有不同MetS定义的研究(n=150519)。ApoB值增加与MetS相关(OR=2.8;95%CI:2.44-3.22;p<0.01,I2=99%)。ApoA1值降低与MetS相关(OR=0.42;95%CI:0.38-0.47;p<0.01,I2=99%)。ApoB/ApoA1比值的增加与MetS相关(OR=4.97;95%CI:3.83-6.44;p<0.01,I2=97%)。Lp(a)值降低与MetS相关(OR=0.89;95%CI:0.82-0.96;p<0.01;I2=92%)。
    结论:ApoB和ApoB/ApoA1比值的增加与MetS相关,而ApoA1和Lp(a)值的降低与MetS相关。这些发现表明,这些脂质标记物可以作为鉴定处于发生MetS的风险中的受试者的潜在指标。然而,需要进一步的研究来阐明这些关联的潜在机制.
    OBJECTIVE: Apolipoproteins and lipoprotein(a) are associated with various cardiometabolic diseases, including insulin resistance, diabetes mellitus, hypertension, dyslipidemia, among others. This systematic review and meta-analysis was conducted to evaluate the association of these markers with metabolic syndrome (MetS).
    METHODS: We ran a systematic search through PubMed, Scopus, Embase, Ovid/Medline, and Web of Science on March 15, 2023. No language or date restrictions were applied. The only synthesised effect measure reported was the odds ratio (OR) with its corresponding 95% confidence interval (95% CI). We utilised the random-effects model for the quantitative synthesis.
    RESULTS: We analysed 50 studies (n = 150 519) with different definitions for MetS. Increased ApoB values were associated with MetS (OR = 2.8; 95% CI: 2.44-3.22; p < 0.01, I2 = 99%). Decreased ApoA1 values were associated with MetS (OR = 0.42; 95% CI: 0.38-0.47; p < 0.01, I2 = 99%). Increased values of the ApoB/ApoA1 ratio were associated with MetS (OR = 4.97; 95% CI: 3.83-6.44; p < 0.01, I2 = 97%). Decreased values of Lp(a) were associated with MetS (OR = 0.89; 95% CI: 0.82-0.96; p < 0.01; I2 = 92%).
    CONCLUSIONS: Increased values of ApoB and ApoB/ApoA1 ratio are associated with MetS, while decreased values of ApoA1 and Lp(a) are associated with MetS. These findings suggest that these lipid markers may serve as potential indicators for identifying subjects at risk of developing MetS. However, further research is required to elucidate the underlying mechanisms of these associations.
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  • 文章类型: Meta-Analysis
    心血管疾病(CVD)是全球死亡的主要原因。习惯性食用坚果和花生与心脏保护益处有关。全球以食物为基础的饮食指南推荐坚果作为健康饮食的关键成分。在随机对照试验(RCTs)中,进行了系统评价和荟萃分析,以检查树坚果和花生消费与CVD危险因素之间的关系。MEDLINE,PubMed,CINAHL,和CochraneCentral数据库在2021年9月26日之前进行了搜索。包括评估任何剂量的坚果或花生食用对CVD危险因素影响的所有RCT研究。使用ReviewManager软件对RCT的CVD结局进行随机效应荟萃分析。每个结果都生成了森林地块,研究间异质性是使用I2检验统计量估计的,漏斗图和Eggers检验结果≥10层。质量评估使用加拿大卫生部质量评估工具,并使用GRADE评估证据的确定性。共有153篇文章描述了139项研究(81项平行设计和58项交叉设计),在荟萃分析中有129项研究。荟萃分析显示低密度脂蛋白胆固醇(LDL-C)显着降低,总胆固醇(TC),甘油三酯(TG),TC:高密度脂蛋白胆固醇(HDL-C),LDL-C:HDL-C,和坚果食用后的载脂蛋白B(ApoB)。只有18项干预研究的证据质量很低。TC:HDL-C的证据体的确定性,LDL-C:HDL-C,ApoB由于不一致而“温和”,因为TG很低,LDL-C和TC由于不一致和发表偏倚的可能性而“非常低”。这篇综述的发现为坚果和花生对一系列生物标志物的联合作用提供了证据,以降低总体CVD风险。这篇评论在PROSPERO注册为CRD42022309156。
    Cardiovascular disease (CVD) is the leading cause of death globally. Habitual consumption of tree nuts and peanuts is associated with cardioprotective benefits. Food-based dietary guidelines globally recommend nuts as a key component of a healthy diet. This systematic review and meta-analysis were conducted to examine the relationship between tree nut and peanut consumption and risk factors for CVD in randomized controlled trials (RCTs) (PROSPERO: CRD42022309156). MEDLINE, PubMed, CINAHL, and Cochrane Central databases were searched up to 26 September, 2021. All RCT studies that assessed the effects of tree nut or peanut consumption of any dose on CVD risk factors were included. Review Manager software was used to conduct a random effect meta-analysis for CVD outcomes from RCTs. Forest plots were generated for each outcome, between-study heterogeneity was estimated using the I2 test statistic and funnel plots and Egger\'s test for outcomes with ≥10 strata. The quality assessment used the Health Canada Quality Appraisal Tool, and the certainty of the evidence was assessed using grading of recommendations assessment, development, and evaluation (GRADE). A total of 153 articles describing 139 studies (81 parallel design and 58 cross-over design) were included in the systematic review, with 129 studies in the meta-analysis. The meta-analysis showed a significant decrease for low-density lipoprotein (LDL) cholesterol, total cholesterol (TC), triglycerides (TG), TC:high-density lipoprotein (HDL) cholesterol, LDL cholesterol:HDL cholesterol, and apolipoprotein B (apoB) following nut consumption. However, the quality of evidence was \"low\" for only 18 intervention studies. The certainty of the body of evidence for TC:HDL cholesterol, LDL cholesterol:HDL cholesterol, and apoB were \"moderate\" because of inconsistency, for TG were \"low,\" and for LDL cholesterol and TC were \"very low\" because of inconsistency and the likelihood of publication bias. The findings of this review provide evidence of a combined effect of tree nuts and peanuts on a range of biomarkers to create an overall CVD risk reduction.
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  • 文章类型: Journal Article
    家族性低β脂蛋白血症是一种常染色体显性遗传的脂质代谢障碍,其特征是低密度脂蛋白胆固醇或总载脂蛋白B的血浆水平<5百分位数,由APOB基因突变引起的。患有杂合子APOB相关家族性低β脂蛋白血症的患者通常无症状或表现为轻度肝功能障碍或肝脂肪变性。由于低密度脂蛋白胆固醇低和氨基转移酶水平升高,一名14岁的韩国男孩被转诊到我们的诊所。他没有抱怨低β脂蛋白血症的特定症状,但是他的实验室和放射学检查显示低密度脂蛋白胆固醇低,低载脂蛋白B,高氨基转移酶,重度脂肪肝,和肝脾肿大.多基因小组测试确定了APOB基因中p.Lys3846Ter(c.11536A>T)的杂合突变,这在以前的研究中没有报道过,也没有在他的父母中检测到血脂正常。限制饱和脂肪的摄入,增加体力活动,并补充维生素E。随后的实验室测试显示转氨酶水平正常。
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  • Objective: To summarize the genotypes and clinical characteristics of homozygous family hypobetalipoproteinemia (Ho-FHBL) caused by apolipoprotein B (APOB) gene variations. Methods: The clinical, laboratory, genetic, and liver histology data of a boy with Ho-FHBL managed in the hepatology ward of the Children\'s Hospital of Fudan University in May 2021 were retrospectively analyzed. The literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP database, China Biology Medicine disc and PubMed database (up to May 2022) with \"familial hypobetalipoproteinemia\" or \"hypobetalipoproteinemias\" or \"hypo beta lipoproteinemia\" or \"hypolipoproteinemias\" as the search terms. All relevant literatures were reviewed to summarize the clinical and genetic features of Ho-FHBL caused by APOB gene variations. Results: The male patient was admitted to the hospital due to abnormal liver function tests for 8 months at the age of 4 years and 6 months. Blood biochemistry showed transaminitis and abnormally low serum levels of lipids. Liver biopsy revealed fatty liver with inflammation and early cirrhosis (Brunt score was F3G2S4). Whole exome sequencing revealed two novel variants of APOB gene (c.3745C>T, p.Q1249 * from the father and c.4589_4592delinsAGGTAGGAGGTTTAACTCCTCCTACCT, p.T1530Kfs * 12 from the mother). He was diagnosed as Ho-FHBL caused by APOB gene compound heterozygous variations. Literature search retrieved 36 English literatures and 0 Chinese literature. A total of 55 (23 males and 32 females) Ho-FHBL cases, including this one, were caused by 54 APOB gene pathogenic variants (23 frameshift, 15 nonsense, 7 missense, 8 splice and 1 gross deletions). The age of the last follow-up was between 1 month and 75 years. Among them, 28 cases had lipid malabsorption, 19 cases had early dysplasia, 12 cases had no symptoms. Twenty-one patients had symptoms related to fat soluble vitamin deficiency, including 14 cases of acanthocytosis, 10 cases of neurological symptoms, and 6 cases of ocular lesions. Thirty-four patients had liver involvement, including 25 cases of elevated transaminase, 21 cases of fatty liver, 15 cases of hepatomegaly, 9 cases of liver fibrosis, 3 cases of liver cirrhosis, 1 case of hepatic hemangioma and 1 case of liver neoplastic nodule. Conclusions: The variants of APOB gene in Ho-FHBL are mainly frameshift and nonsense variations. Patients may have lipid malabsorption and (or) early dysplasia, or symptom-free. Liver involvement is common.
    目的: 总结APOB基因变异致纯合型家族性低β脂蛋白血症(Ho-FHBL)的基因型与临床特点。 方法: 回顾性病例总结2021年5月复旦大学附属儿科医院肝病病区诊治的1例Ho-FHBL患儿的病史、体征、实验室检查、肝脏病理等临床资料及基因检测的特点,并分别以“家族性低β脂蛋白血症”“低β脂蛋白血症”“低β-脂蛋白血症”“低脂蛋白血症”“familial hypobetalipoproteinemia”“hypobetalipoproteinemias”“hypo beta lipoproteinemia”“hypolipoproteinemias”为检索词,对中国知网、万方、维普、中国生物医学文献数据库、PubMed数据库建库至2022年5月的相关文献进行检索,总结APOB基因变异致Ho-FHBL的临床及遗传学特点。 结果: 患儿,男,4岁6月龄,因“发现肝功能异常8个月”入院,血生化检测提示转氨酶升高,血脂减低。肝组织活检提示脂肪性肝炎伴早期肝硬化形成(Brunt评分F3G2S4),全外显子组测序发现APOB基因2种新变异(c.3745C>T,p.Q1249*,父亲杂合携带;c.4589_4592delinsAGGTAGGAGGTTTAACTCCTCCTACCT,p.T1530Kfs*12,母亲杂合携带),诊断为APOB基因复合杂合变异所致的Ho-FHBL。文献检索到英文文献36篇,中文文献0篇,结合本例,合计55例APOB基因变异致Ho-FHBL,其中男23例、女32例,末次随访年龄1月龄至75岁。共检测到APOB基因致病性变异54种,包括23种移码变异、15种无义变异、8种剪接位点变异、7种错义变异与1种大片段缺失。55例Ho-FHBL患者中28例表现为脂质吸收不良、19例表现为早期生长发育不良、12例无症状。21例患者出现脂溶性维生素缺乏相关表现,其中棘红细胞增多症14例、神经症状10例、眼部病变6例。34例患者肝脏受累,包括转氨酶升高25例、脂肪肝21例、肝肿大15例、肝纤维化9例、肝硬化3例、肝血管瘤和肝肿瘤性结节各1例。 结论: Ho-FHBL中APOB基因变异以移码变异与无义变异为主,患者可表现为脂质吸收不良和(或)早期生长发育不良,也可无任何症状,肝脏受累多见。.
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  • 文章类型: Journal Article
    未经评估:生物标志物对糖尿病足溃疡(DFU)的风险进行分层是必要的。本系统评价和荟萃分析旨在评估血脂谱和载脂蛋白与DFU风险之间的关系。
    未经评估:在PubMed中进行了系统搜索,Scopus,科克伦图书馆,和WebofScience在成年患者中。包括队列和病例对照研究。随机效应模型用于荟萃分析,效果表示为比值比(OR)及其95%置信区间(CIs)。我们通过Egger测试和漏斗图评估了发表偏差。
    未经评估:共纳入12项队列研究和26项病例对照研究,17076名患者。我们发现总胆固醇(TC)值越高,低密度脂蛋白(LDL),甘油三酯,和脂蛋白(a)(Lp(a))与较高的DFU发病风险相关(分别为OR:1.47,OR:1.47,OR:1.5,OR:1.85).否则,HDL值越低,发生DFU的风险越高(OR:0.49).没有发现发表偏倚与TC之间的关联,HDL,LDL,或TG和DFU的风险。
    未经评估:LDL的高值,TC,TG,Lp(a)和低HDL值与发展DFU的风险较高相关。此外,我们没有发现VLDL的显著关联,ApoA1ApoB,和ApoB/ApoA1比值。
    UNASSIGNED: Biomarkers are necessary to stratify the risk of diabetic foot ulcers (DFUs). This systematic review and meta-analysis aimed to evaluate the association between the lipid profile and apolipoproteins with the risk of DFU.
    UNASSIGNED: A systematic search was conducted in PubMed, Scopus, Cochrane Library, and Web of Science among adult patients. Cohort and case-control studies were included. Random-effects models were used for meta-analyses, and the effects were expressed as odds ratio (OR) and their 95% confidence intervals (CIs). We evaluated publication bias through Egger\'s test and funnel plot.
    UNASSIGNED: A total of 12 cohort studies and 26 case-control studies were included, with 17076 patients. We found that the higher values of total cholesterol (TC), low-density lipoprotein (LDL), triglycerides, and lipoprotein(a) (Lp(a)) were associated with a higher risk of developing DFU (OR: 1.47, OR: 1.47, OR: 1.5, OR: 1.85, respectively). Otherwise, the lower values of HDL were associated with a higher risk of developing DFU (OR: 0.49). Publication bias was not found for associations between TC, HDL, LDL, or TG and the risk of DFU.
    UNASSIGNED: The high values of LDL, TC, TG, and Lp(a) and low values of HDL are associated with a higher risk of developing DFU. Furthermore, we did not find a significant association for VLDL, ApoA1, ApoB, and ApoB/ApoA1 ratio.
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