Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023

IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Annales d'endocrinologie Pub Date : 2024-07-01 DOI:10.1016/j.ando.2024.03.002
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Abstract

Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of European centers of excellence working in the field of lipodystrophies aiming at promoting international collaborations to increase basic scientific understanding and clinical management of these syndromes. The network has developed a European Patient Registry as a collaborative research platform for consortium members. ECLip and ECLip registry activities involve patient advocacy groups to increase public awareness and to seek advice on research activities relevant from the patients perspective. The annual ECLip congress provides updates on the research results of various network groups members.

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欧洲脂肪营养不良症联合会(ECLip)年会论文集,意大利比萨,2023 年 9 月 28-29 日。
脂肪营养不良综合征是一种罕见疾病,主要影响脂肪组织的发育或维持,但也间接影响多个器官和组织,在大多数情况下会导致预期寿命和生活质量下降。脂肪营养不良综合征是一种由基因突变、自身免疫和先天性机制引起的多发性疾病,目前已被确认和分类为多种亚型,但该病的诊断率仍然明显偏低。欧洲脂肪营养不良症联盟(ECLip)成立于2014年,是一个由欧洲脂肪营养不良症领域的卓越中心组成的非营利性网络,旨在促进国际合作,提高对这些综合征的基础科学认识和临床管理水平。该网络建立了一个欧洲患者登记处,作为联盟成员的合作研究平台。ECLip 和 ECLip 登记处的活动涉及患者权益团体,以提高公众意识,并从患者角度为相关研究活动提供建议。ECLip 年度大会介绍各网络成员的最新研究成果。
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来源期刊
Annales d'endocrinologie
Annales d'endocrinologie 医学-内分泌学与代谢
CiteScore
4.40
自引率
6.50%
发文量
311
审稿时长
50 days
期刊介绍: The Annales d''Endocrinologie, mouthpiece of the French Society of Endocrinology (SFE), publishes reviews, articles and case reports coming from clinical, therapeutic and fundamental research in endocrinology and metabolic diseases. Every year, it carries a position paper by a work-group of French-language endocrinologists, on an endocrine pathology chosen by the Society''s Scientific Committee. The journal is also the organ of the Society''s annual Congress, publishing a summary of the symposia, presentations and posters. "Les Must de l''Endocrinologie" is a special booklet brought out for the Congress, with summary articles that are always very well received. And finally, we publish the high-level instructional courses delivered during the Henri-Pierre Klotz International Endocrinology Days. The Annales is a window on the world, keeping alert clinicians up to date on what is going on in diagnosis and treatment in all the areas of our specialty.
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