Journal of clinical lipidology最新文献

{"title":"Achilles tendon palpation for diagnosis of familial hypercholesterolemia: The compelling need to restore a valuable lost art","authors":"Eliot A. Brinton MD , P. Barton Duell MD","doi":"10.1016/j.jacl.2024.12.002","DOIUrl":"10.1016/j.jacl.2024.12.002","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 7-9"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Helping clinicians interpret the evidence supporting dietary recommendations","authors":"Kevin C. Maki PhD, P. Barton Duell MD","doi":"10.1016/j.jacl.2025.02.005","DOIUrl":"10.1016/j.jacl.2025.02.005","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 1-2"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143592302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Time to benefit of intensive lipid lowering therapy in individuals with cardiovascular disease","authors":"Linjie Li MD ,&nbsp;Chuanyi Huang MD ,&nbsp;Wennan Liu MD ,&nbsp;Jingge Li MD ,&nbsp;Geru A MD ,&nbsp;Xiaozhi Chen MD ,&nbsp;Shichen Jiang MD ,&nbsp;Yiwen Fang MD ,&nbsp;Roger Sik-Yin Foo MD, PhD ,&nbsp;Mark Yan-Yee Chan MD, PhD ,&nbsp;Ying Yu MD, PhD ,&nbsp;Yongle Li MD, PhD ,&nbsp;Qing Yang MD, PhD ,&nbsp;Xin Zhou MD, PhD","doi":"10.1016/j.jacl.2024.09.014","DOIUrl":"10.1016/j.jacl.2024.09.014","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>The timing of the clinical benefit of intensive lipid-lowering therapy in reducing major adverse cardiovascular events (MACE) in individuals with established cardiovascular disease (CVD), both before and after the advent of novel medications (proprotein convertase subtilisin/kexin type 9 inhibitor [PCSK9i] and ezetimibe) in 2010, is unclear.</div></div><div><h3>OBJECTIVE</h3><div>To evaluate the time to benefit (TTB) from intensive lipid-lowering therapy.</div></div><div><h3>METHODS</h3><div>The investigators systematically searched for randomized controlled trials evaluating intensive lipid-lowering therapy. The primary outcome was MACE. Utilizing reconstructed individual participant data, Weibull survival curves were fitted to estimate the TTB for specific absolute risk reduction thresholds (0.002, 0.005, and 0.01).</div></div><div><h3>RESULTS</h3><div>Seven trials randomizing 92,180 adults aged between 58.2 and 63.6 years were identified. A TTB of 19.6 months (95% CI: 12.3–31.4) of intensive lipid-lowering was needed to prevent 1 MACE per 100 patients. Before 2010, when statin was the only option, a TTB for high-intensity statin therapy of 15.2 months (95% CI: 6.52–35.5) was needed. After 2010, the TTB for PCSK9i-based, ezetimibe-based intensive lipid-lowering on a background of statin therapy was 17.7 (95% CI: 12.2–25.6) and 47.3 (95% CI: 20.4–110) months, respectively.</div></div><div><h3>CONCLUSION</h3><div>In contemporary practice, to prevent 1 MACE in 100 individuals with established CVD, a TTB of 17.7 and 47.3 months was needed for PCSK9i-based and ezetimibe-based intensive lipid-lowering therapy on a background of statin therapy, respectively. The observed variations across different drug regimens highlight the need for a personalized approach to treatment decisions.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 51-59"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lipoprotein(a) in clinical practice: The role in long-term in-stent restenosis","authors":"Francesco Sbrana MD,&nbsp;Beatrice Dal Pino MD","doi":"10.1016/j.jacl.2024.10.002","DOIUrl":"10.1016/j.jacl.2024.10.002","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 188-189"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of nutrition-related clinical trials in informing dietary recommendations for health and treatment of diseases","authors":"Penny M. Kris-Etherton PhD, RDN, CLS, FAHA, FASN, MNLA ,&nbsp;Kristina S. Petersen PhD, APD, FAHA ,&nbsp;Benoit LaMarche PhD, FAHA ,&nbsp;Wahida Karmally DrPH, MS, RDN, CLS, FNLAc ,&nbsp;John R. Guyton MD, FNLA ,&nbsp;Catherine Champagne PhD, RDN ,&nbsp;Alice H. Lichtenstein DSc, FAHA ,&nbsp;George A. Bray MD, FTOS, FASN ,&nbsp;Frank M. Sacks MD, FAHA ,&nbsp;Kevin C. Maki PhD, CLS, MNLA, FTOS, FAHA","doi":"10.1016/j.jacl.2024.09.010","DOIUrl":"10.1016/j.jacl.2024.09.010","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Dietary guidance is based on a robust evidence base including high-quality clinical trials, of which some have been designed to establish causal relationships between dietary interventions and atherosclerotic cardiovascular disease (ASCVD) risk reduction. However, the complexity associated with conducting these studies has resulted in criticism of nutrition and dietary recommendations because the strength and quality of evidence falls short of that for some pharmaceutical interventions.</div></div><div><h3>SOURCES OF MATERIAL</h3><div>In this paper, we aim to promote greater awareness of the nutrition-related clinical trials that have been conducted showing ASCVD benefits and how this evidence has contributed to dietary recommendations.</div></div><div><h3>ABSTRACT OF FINDINGS</h3><div>Compared to clinical trials of pharmaceutical agents, nutrition-related clinical trials have several unique considerations, including complexities of intervention design, challenges related to the blinding of participants to treatment, modest effect magnitudes, variability in baseline dietary exposures, absence of objective dietary adherence biomarkers, achieving sustained participant adherence, and the significant timeline for endpoint responses. Evidence-based dietary recommendations are made based on multiple lines of evidence including that from randomized controlled trials, epidemiological studies, as well as animal and in vitro studies.</div></div><div><h3>CONCLUSION</h3><div>This research has provided foundational evidence for the role of diet in prevention, management, and treatment of ASCVD. Based on the clinical trials that have been conducted, a strong consensus has evolved regarding the key elements of healthy dietary patterns that decrease ASCVD risk. Going forward, implementation research is needed to identify effective translation approaches to increase adherence to evidence-based dietary recommendations.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 10-27"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acknowledgement of Referees","authors":"","doi":"10.1016/j.jacl.2025.02.011","DOIUrl":"10.1016/j.jacl.2025.02.011","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 192-193"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143592301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utilizing innovative implementation strategies for familial hypercholesterolemia: Correspondence","authors":"Hinpetch Daungsupawong ,&nbsp;Viroj Wiwanitkit","doi":"10.1016/j.jacl.2024.09.007","DOIUrl":"10.1016/j.jacl.2024.09.007","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 190-191"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypertriglyceridemia-induced acute pancreatitis in pregnancy associated with CREB3L3 mutation","authors":"Chen Gurevitz MD ,&nbsp;Jeffrey I. Mechanick MD ,&nbsp;Ron Do PhD ,&nbsp;Robert S. Rosenson MD","doi":"10.1016/j.jacl.2024.10.001","DOIUrl":"10.1016/j.jacl.2024.10.001","url":null,"abstract":"<div><div>A 40-year-old woman at 35 weeks of gestation presented with abdominal pain and hypertriglyceridemia of above 5000 mg/dL. Following lab tests and imaging studies, she was diagnosed with hypertriglyceridemia-related acute pancreatitis in pregnancy. She was managed with nil per os (NPO), intravenous insulin, and peripheral parenteral nutrition, but her condition further complicated with preeclampsia, and she was induced and delivered at 36 weeks of gestation. Genetic testing revealed a heterozygous variant in the <em>CREB3L3</em> gene predisposing to severe hypertriglyceridemia. Postpartum lifestyle modifications, including a low-fat diet and routine exercise, significantly improved her lipid profile.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 173-177"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C > A: p. (Ala170Asp)","authors":"Janneke W.C.M. Mulder MD ,&nbsp;Naomi ‘t Hart BSc ,&nbsp;Monique T. Mulder PhD ,&nbsp;Linda Zuurbier PhD ,&nbsp;Jeanine E. Roeters van Lennep MD, PhD","doi":"10.1016/j.jacl.2024.11.009","DOIUrl":"10.1016/j.jacl.2024.11.009","url":null,"abstract":"<div><div>This report describes a rare case of lipoprotein glomerulopathy. A 63-year-old man presented with nephrotic syndrome unresponsive to rituximab and tacrolimus. Blood tests showed a mild- to moderate hypertriglyceridemia suggesting familial dysbetalipoproteinemia (FD). Additional diagnostic procedures including lipoprotein ultracentrifugation, fast protein liquid chromatography and agarose gel electrophoresis were performed, which showed increased very-low-density lipoprotein remnants corresponding to the lipid profile observed in FD patients. However, instead of the expected <em>APOE</em> ε2/ε2 genotype, our patient showed <em>APOE</em> ε3/ε4. The <em>APOE</em> gene was sequenced, revealing a c.509C &gt; A:p. (Ala170Asp) variant (also known as <em>APOE</em> Las Vegas), which has been described once in a patient with lipoprotein glomerulopathy. Lipid-lowering therapy was initiated, which resulted in a slight improvement of renal function and lipid profile. This Dutch case further supports the pathogenicity of the <em>APOE</em> Las Vegas variant and emphasizes the importance of timely diagnosis of lipoprotein glomerulopathy to institute appropriate treatment.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 183-187"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel 327bp Alu element insertion in LDLR exon 17 causes alternative splicing and familial hypercholesterolemia","authors":"Mohamed Imran PhD ,&nbsp;Divya Agarwal DM ,&nbsp;Kriti Menon B.Tech ,&nbsp;Vinod Scaria PhD ,&nbsp;Sridhar Sivasubbu PhD","doi":"10.1016/j.jacl.2024.11.006","DOIUrl":"10.1016/j.jacl.2024.11.006","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Homozygous familial hypercholesterolemia (HoFH) is a severe form of familial hypercholesterolemia (FH) characterized by high low-density lipoprotein cholesterol (LDL-C) levels and increased coronary artery disease risk. This study reports a novel Alu insertion in the <em>LDLR</em> gene in a consanguineous Indian family, causing FH.</div></div><div><h3>OBJECTIVE</h3><div>To identify and characterize the mutation causing HoFH in a proband and their family members.</div></div><div><h3>METHODS</h3><div>Clinical exome sequencing was conducted on the proband with subsequent bioinformatic analysis of single nucleotide variants, loss-of-function variants, structural variants, and mobile element insertions (MEI). Polymerase chain reaction (PCR) amplification and Sanger sequencing of exon 17 of the <em>LDLR</em> gene were performed to elucidate the sequence and length of the Alu insertion. Additionally, RNA analysis of the proband identified splice site events.</div></div><div><h3>RESULTS</h3><div>Bioinformatic analysis revealed a small sequence duplication followed by an Alu element insertion. PCR amplification and Sanger sequencing uncovered a 17 base pair (bp) duplication at the breakpoint, a “T” base insertion, followed by a 309 bp Alu Yb8 insertion. This led to a 70 bp deletion at the beginning of exon 17 due to alternative splicing, resulting in a frameshift and extended protein truncation. The proband and siblings were homozygous for the mutation, while the parents and 2 other family members were heterozygous.</div></div><div><h3>CONCLUSION</h3><div>Our study uncovers a novel AluYb8 element insertion in the <em>LDLR</em> gene, highlighting the need for MEI detection in genetic screening for FH. Reanalyzing FH cohorts for MEIs could significantly improve diagnostic accuracy and enhance our understanding of FH genetics.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 114-124"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}