Best practice & research. Clinical endocrinology & metabolism最新文献_第10页

The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders 遗传分析在脂质疾病诊断和治疗中的优势和缺陷

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-05-01 DOI: 10.1016/j.beem.2022.101719

Amanda J. Berberich , Robert A. Hegele

{"title":"The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders","authors":"Amanda J. Berberich , Robert A. Hegele","doi":"10.1016/j.beem.2022.101719","DOIUrl":"10.1016/j.beem.2022.101719","url":null,"abstract":"<div><p><span><span><span>The increasing affordability of and access to next-generation DNA<span> sequencing has increased the feasibility of incorporating genetic analysis into the diagnostic pathway for </span></span>dyslipidaemia. But should genetic diagnosis be used routinely? DNA testing for any medical condition has potential benefits and pitfalls. For dyslipidaemias, the overall balance of advantages versus drawbacks differs according to the main </span>lipid<span> disturbance. For instance, some patients with severely elevated low-density lipoprotein cholesterol levels have a monogenic disorder, namely heterozygous </span></span>familial hypercholesterolaemia<span>. In these patients, DNA diagnosis can be definitive, in turn yielding several benefits for patient care that tend to outweigh any potential disadvantages. In contrast, hypertriglyceridaemia<span><span> is almost always a polygenic condition without a discrete monogenic basis, except for ultrarare monogenic familial chylomicronaemia syndrome. Genetic testing </span>in patients with hypertriglyceridaemia is therefore predominantly non-definitive and evidence for benefit is presently lacking. Here we consider advantages and limitations of genetic testing in dyslipidaemias.</span></span></p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 3","pages":"Article 101719"},"PeriodicalIF":7.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9350507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Statins and diabetes: What are the connections? 他汀类药物和糖尿病:有什么联系?

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-05-01 DOI: 10.1016/j.beem.2023.101749

Naveed Sattar (Professor)

引用次数: 6

Genetic testing in dyslipidaemia: An approach based on clinical experience 血脂异常基因检测:一种基于临床经验的方法

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-05-01 DOI: 10.1016/j.beem.2022.101720

Amanda J. Berberich MD, PhD, FRCPC, Cert. Endo , Robert A. Hegele MD, FRCPC, Cert. Endo. FACP, FAHA, FCAHS, FCCS

{"title":"Genetic testing in dyslipidaemia: An approach based on clinical experience","authors":"Amanda J. Berberich MD, PhD, FRCPC, Cert. Endo , Robert A. Hegele MD, FRCPC, Cert. Endo. FACP, FAHA, FCAHS, FCCS","doi":"10.1016/j.beem.2022.101720","DOIUrl":"10.1016/j.beem.2022.101720","url":null,"abstract":"<div><p><span><span><span>We have used DNA sequencing in our </span>lipid clinic for >20 years. </span>Dyslipidaemia<span><span> is typically ascertained biochemically. For moderate deviations in the lipid profile, the etiology is often a combination of a polygenic susceptibility component plus secondary non-genetic factors. For severe dyslipidaemia, a monogenic etiology is more likely, although a discrete single-gene cause is frequently not found. A severe phenotype can also result from strong polygenic predisposition that is aggravated by secondary factors. A young age of onset plus a family history of dyslipidaemia or atherosclerotic cardiovascular disease can suggest a monogenic etiology. With severe dyslipidaemia, clinical examination focuses on detecting manifestations of monogenic syndromic conditions. For all patients with dyslipidaemia, secondary causes must be ruled out. Here we describe an experience-based practical approach to genetic testing of patients with severe deviations of low-density lipoprotein, </span>triglycerides, high-density lipoprotein and also </span></span>combined hyperlipidaemia<span> and dysbetalipoproteinemia.</span></p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 3","pages":"Article 101720"},"PeriodicalIF":7.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9407435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Omega-3-fatty acids: Do they prevent cardiovascular disease? -3脂肪酸:它们能预防心血管疾病吗?

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-05-01 DOI: 10.1016/j.beem.2022.101681

R. Preston Mason PhD, MBA (President, Elucida Research Faculty) , Samuel C.R. Sherratt BS (Doctoral Candidate in Biochemistry) , Robert H. Eckel MD (Professor of Medicine Emeritus)

引用次数: 3

Remnant lipoprotein particles and cardiovascular disease risk 残余脂蛋白颗粒与心血管疾病风险

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-05-01 DOI: 10.1016/j.beem.2022.101682

Ronald M. Krauss MD (Professor of Pediatrics and Medicine), Sarah M. King PhD

{"title":"Remnant lipoprotein particles and cardiovascular disease risk","authors":"Ronald M. Krauss MD (Professor of Pediatrics and Medicine), Sarah M. King PhD","doi":"10.1016/j.beem.2022.101682","DOIUrl":"10.1016/j.beem.2022.101682","url":null,"abstract":"<div><p><span>Intravascular catabolism of chylomicrons and very low-density </span>lipoproteins<span><span> (VLDLs) gives rise to a spectrum of partially lipolyzed remnant particles. Their plasma levels and properties are influenced by lipases, </span>lipid<span><span> transfer proteins, and content of exchangeable lipoproteins. Particularly important among the latter are apoE, which mediates hepatic binding and uptake of remnants, and apoCIII, which can retard this process. In the course of their plasma transit, remnants can acquire pathologic properties that promote the development of atherosclerotic cardiovascular disease (ASCVD) including increased cholesterol content and transport of thrombogenic and inflammatory mediators. Levels of cholesterol-enriched remnant particles determined by various analytic techniques have been significantly linked to the incidence of ASCVD, most dramatically in dyslipidemic patients homozygous for the apoE2 </span>genetic<span><span> isoform. Further research is warranted for development of clinical assays that can better capture the pathologic impact of remnant lipoprotein subspecies, and for testing the impact on ASCVD of </span>therapies that reduce their levels.</span></span></span></p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 3","pages":"Article 101682"},"PeriodicalIF":7.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9719588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Polygenic risk scores for dyslipidemia and atherosclerotic cardiovascular disease: Progress toward clinical implementation 血脂异常和动脉粥样硬化性心血管疾病的多基因风险评分：临床实施进展

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-05-01 DOI: 10.1016/j.beem.2022.101702

Michael G. Levin MD , Daniel J. Rader MD

引用次数: 0

Thyroid autoimmunity and pregnancy in euthyroid women 甲状腺功能正常妇女的甲状腺自身免疫与妊娠

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-03-01 DOI: 10.1016/j.beem.2022.101632

Aglaia Kyrilli MD, PhD (Associate Professor, Clinical Endocrinologist) , David Unuane MD, PhD (Clinical Professor, Endocrinologist, Head of Clinic) , Kris G. Poppe MD, PhD (Senior Lecturer, Endocrinologist, Head of Clinic)

{"title":"Thyroid autoimmunity and pregnancy in euthyroid women","authors":"Aglaia Kyrilli MD, PhD (Associate Professor, Clinical Endocrinologist) , David Unuane MD, PhD (Clinical Professor, Endocrinologist, Head of Clinic) , Kris G. Poppe MD, PhD (Senior Lecturer, Endocrinologist, Head of Clinic)","doi":"10.1016/j.beem.2022.101632","DOIUrl":"10.1016/j.beem.2022.101632","url":null,"abstract":"<div><p>Women with thyroid<span><span> autoimmunity (TAI), predominately characterized by increased levels of thyroid peroxidase antibody (TPOAb), are at risk for developing pregnancy related complications. In this review, we discuss the importance of TAI during natal and perinatal stages. Before pregnancy, TAI is associated with higher mean serum TSH levels and certain causes of </span>subfertility<span>. During pregnancy, TAI increases the risk of an insufficient response of the thyroid to an increasing strain induced by pregnancy, and consequently (subclinical) hypothyroidism might develop. Euthyroid women with TAI have a higher rate of maternal and foetal complications, but it seems that causality cannot be pinned down to thyroid dysfunction alone. Almost half of the women known with TAI prior to pregnancy will also develop post-partum thyroiditis (PPT). However, any relation between PPT and post-partum depression remains uncertain. More research is required to explain possible associations between TAI and pregnancy morbidities, and studies should focus on a better understanding of TAI as such. Given the many unanswered questions, at present, it is not recommended to screen all (potentially) pregnant women for the presence of TAI.</span></span></p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 2","pages":"Article 101632"},"PeriodicalIF":7.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9172964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Genetics and epigenetics of autoimmune thyroid diseases: Translational implications 自身免疫性甲状腺疾病的遗传学和表观遗传学:翻译意义

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-03-01 DOI: 10.1016/j.beem.2022.101661

Hanna J. Lee (Assistant Professor), Mihaela Stefan–Lifshitz (Associate Professor), Cheuk Wun Li (Assistant Professor), Yaron Tomer (Professor)

{"title":"Genetics and epigenetics of autoimmune thyroid diseases: Translational implications","authors":"Hanna J. Lee (Assistant Professor), Mihaela Stefan–Lifshitz (Associate Professor), Cheuk Wun Li (Assistant Professor), Yaron Tomer (Professor)","doi":"10.1016/j.beem.2022.101661","DOIUrl":"10.1016/j.beem.2022.101661","url":null,"abstract":"<div><p><span><span><span>Hashimoto's thyroiditis (HT) and Graves' disease (GD) are prevalent autoimmune disorders, representing opposite ends of the clinical spectrum of </span>autoimmune thyroid diseases<span> (AITD). The pathogenesis involves a complex interplay between environment and genes. Specific susceptibility genes have been discovered that predispose to AITD, including thyroid-specific and immune-regulatory genes. Growing evidence has revealed that genetic<span> and epigenetic variants can alter </span></span></span>autoantigen<span> presentation during the development of immune tolerance<span>, can enhance self-peptide binding to MHC (major histocompatibility complex), and can amplify stimulation of T- and B-cells. These gene-driven mechanistic discoveries lay the groundwork for novel treatment targets. This review summarizes recent advances in our understanding of key AITD susceptibility genes (Tg</span></span></span><span><sup>1</sup></span>, <span>TSHR</span>, <u>HLA-DR3</u>, and <span>CD40</span>) and their translational therapeutic potential.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 2","pages":"Article 101661"},"PeriodicalIF":7.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550878/pdf/nihms-1822154.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9226062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 13

Recurrence risk of autoimmune thyroid and endocrine diseases 自身免疫性甲状腺和内分泌疾病的复发风险

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-03-01 DOI: 10.1016/j.beem.2022.101636

Lara Frommer (Lab biologist) , Jochem König (Consultant Statistician) , Sofia Chatzidou (Lab Associate) , Georgios Chionos (Lab Associate) , Jan Längericht (Pharmacist) , George J. Kahaly (Professor of Medicine Endocrinology/Metabolism)

{"title":"Recurrence risk of autoimmune thyroid and endocrine diseases","authors":"Lara Frommer (Lab biologist) , Jochem König (Consultant Statistician) , Sofia Chatzidou (Lab Associate) , Georgios Chionos (Lab Associate) , Jan Längericht (Pharmacist) , George J. Kahaly (Professor of Medicine Endocrinology/Metabolism)","doi":"10.1016/j.beem.2022.101636","DOIUrl":"10.1016/j.beem.2022.101636","url":null,"abstract":"<div><h3>Background and objective</h3><p>The recurrence risk ratio (λ) expresses the risk ratio of index patients’ first-degree relatives developing a disease as compared to the general population and is a quantitative measure of the genetic contribution to the disease. This paper offers the results of a specialized center as well as a review of the pertinent literature.</p></div><div><h3>Methods</h3><p>Data from 3315 consecutive subjects followed at an ORPHAN academic tertiary referral expert center for endocrine autoimmunity as well as 419 unrelated German families were collected. λ was assessed based on 806 well-documented subjects, 299 index patients with autoimmune glandular (AIGD) and non-endocrine diseases and 507 of their first-degree relatives (328 children, 179 siblings).</p></div><div><h3>Results</h3><p>As many as 36% of relatives of patients with autoimmune diseases (AID) were affected by various autoimmune conditions. Twenty-five percent and 23% of all relatives had an AIGD<span> or an autoimmune thyroid disease (AITD), respectively. Furthermore, 29% and 25% of relatives of index cases with polyglandular (PGA) and monoglandular (MGA) autoimmunity were affected. The recurrence risk for AITD was increased 16-fold in both children and siblings compared to the general population (λ, 95% CI 16, 11–21 and 16, 12–19, respectively). Furthermore, λ for AITD/AIGD was 21.62 (95% CI 14.17–30.69)/17.57 (11.80–24.36) and 13.48 (8.42–20.52)/10.68 (6.76–16.02) for siblings of patients with PGA and MGA, respectively. Overall, a strong genetic component for AITD and AIGD with a significant genetic impact on the development of PGA was demonstrated.</span></p></div><div><h3>Conclusion</h3><p>These novel results strongly recommend the screening for AITD and AIGD in children and siblings of index patients with AITD.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 2","pages":"Article 101636"},"PeriodicalIF":7.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9171735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Bioassays for thyrotropin receptor autoantibodies 促甲状腺激素受体自身抗体的生物测定

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-03-01 DOI: 10.1016/j.beem.2023.101744

Paul D. Olivo (Adjunct Assistant Professor)

{"title":"Bioassays for thyrotropin receptor autoantibodies","authors":"Paul D. Olivo (Adjunct Assistant Professor)","doi":"10.1016/j.beem.2023.101744","DOIUrl":"10.1016/j.beem.2023.101744","url":null,"abstract":"<div><p><span>Bioassays using animal models were essential tools in the discovery of </span>thyrotropin<span><span> and in enhancing our understanding of the physiology of the pituitary-thyroid axis. These same bioassays were also instrumental in the discovery of autoantibodies to the thyrotropin receptor (TSH-R-Ab) and in identifying their role in the </span>pathophysiology<span><span> of Graves’ disease. The development of cell-based bioassays led to further advances in our knowledge of the functional activity of TSH-R-Ab and to the discovery that TSH-R-Ab can be either thyroid-stimulating or thyroid blocking, and that they occur in other types of </span>autoimmune thyroid diseases<span> (AITD) besides Graves’ disease. More recently, TSH-R-Ab bioassays have been advanced from research tools to clinical laboratory tests. Whereas TSH-R-Ab can be measured with competitive-binding immunoassays, these assays do not provide information on the functional activity of TSH-R-Ab. Bioassays, in contrast, can differentiate between the stimulatory or blocking activity of TSH-R-Ab which provides clinically useful information that can inform the management of patients with AITD. The clinical use of TSH-R-Ab bioassays, however, has been limited to-date by their inherent complexity and long turn-around-time. Recent advances in biosensors have been applied to the development of TSH-R-Ab bioassays that are rapid and simple to perform. We now are entering an era in which bioassays for TSH-R-Ab can be measured routinely by virtually any clinical laboratory.</span></span></span></p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 2","pages":"Article 101744"},"PeriodicalIF":7.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9173317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1