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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7–8 April 2022 - 13/12/22

Doi : 10.1016/j.ando.2022.07.674 
Héléna Mosbah a, b, Baris Akinci c, David Araújo-Vilar d, Juan Carrion Tudela e, Giovanni Ceccarini f, Philippe Collas g, x, I. Sadaf Farooqi h, Antía Fernández-Pombo i, y, Isabelle Jéru b, j, Fredrik Karpe k, z, Kerstin Krause l, Margherita Maffei m, Konstanze Miehle l, Elif Oral n, Naca Perez de Tudela e, Xavier Prieur o, Justin Rochford p, Rebecca Sanders q, Ferruccio Santini f, David B. Savage h, Julia von Schnurbein r, Robert Semple s, Anna Stears t, Ekaterina Sorkina u, Marie-Christine Vantyghem v, Camille Vatier a, b, Antonio Vidal-Puig w, Corinne Vigouroux a, b, , Martin Wabitsch r
a Assistance Publique–Hôpitaux de Paris (AP–HP), Saint–Antoine University Hospital, Endocrinology Department, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France 
b Sorbonne University, Inserm UMR_S 938, Saint–Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Paris, France 
c Division of Endocrinology and Metabolism, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey 
d UETeM-Molecular Pathology Group. Department of Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago de Compostela, Spain 
e Asociación Internacional de Familiares y Afectados de Lipodistrofias, Calle San Cristobal 7, 30850 Totana, Murcia, España 
f Obesity and Lipodystrophy Center, Department of Clinical and Experimental Medicine, Endocrinology Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy 
g Department of Molecular Medicine, Faculty of Medicine, University of Oslo, PO Box 1112 Blindern, 0317 Oslo, Norway 
h University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK 
i UETeM-Molecular Pathology of Rare Diseases Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain 
j Assistance Publique–Hôpitaux de Paris (AP–HP), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France 
k Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK 
l Medical Department III - Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany 
m Istituto di Neuroscienze, Consiglio Nazionale delle Ricerche, 56124 Pisa, Italy 
n Division of Metabolism, Endocrinology & Diabetes and Caswell Diabetes Institute, University of Michigan, Ann Arbor, MI, USA 
o Nantes Université, CNRS, Inserm, l’institut du thorax, 44000 Nantes, France 
p The Rowett Institute and Aberdeen Cardiovascular and Diabetes Centre, University of Aberdeen, Aberdeen AB25 2ZD, UK 
q Lipodystrophy UK, Oxford, UK 
r Center for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany 
s Centre for Cardiovascular Science, The University of Edinburgh, and MRC Human Genetics Unit, Institute of Genetics and Cancer, Edinburgh, UK 
t Institute of Metabolic Science, University of Cambridge, Cambridge University Hospitals NHS Trust, Cambridge, UK 
u Endocrinology Research Centre, 11, ulitsa Dmitriya Ulianova, 117036 Moscow, Russia 
v Department of Endocrinology, Diabetology, and Metabolism, CHU Lille, and Inserm, Institut Pasteur Lille, Lille University, U1190 - EGID, 59000 Lille, France 
w University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, MDU MRC, and Addenbrooke's Hospital, Cambridge CB2 0QQ, UK 
x Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway 
y Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain 
z National Institute for Health and Care Research, Oxford Biomedical Research Centre, Oxford University Hospitals Foundation Trust, Oxford, UK 

Corresponding author at: Endocrinology Department, Saint Antoine Hospital, 184, rue du faubourg Saint-Antoine, 75012 Paris, France.Endocrinology Department, Saint Antoine Hospital184, rue du faubourg Saint-AntoineParis75012France

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Abstract

Lipodystrophy syndromes are rare diseases with defects in the development or maintenance of adipose tissue, frequently leading to severe metabolic complications. They may be genetic or acquired, with variable clinical forms, and are largely underdiagnosed. The European Consortium of Lipodystrophies, ECLip, is a fully functional non-profit network of European centers of excellence working in the field of lipodystrophies. It provides a favorable environment to promote large Europe-wide and international collaborations to increase the basic scientific understanding and clinical management of these diseases. It works with patient advocacy groups to increase public awareness. The network also promotes a European Patient Registry of lipodystrophies, as a collaborative research platform for consortium members. The annual congress organized gives an update of the findings of network research groups, highlighting clinical and fundamental aspects. The talks presented during the meeting in Cambridge, UK, in 2022 are summarized in these minutes.

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Keywords : Lipodystrophy syndrome, Fatty acid, Total body irradiation, Encephalopathy, miRNA, Caveolin-1, Therapeutic education, EPHX1, Seipin, Registry, Metreleptin, Antibody


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Abstracts of the ECLIP meeting Cambridge 2022

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Vol 83 - N° 6

P. 461-468 - Dicembre 2022 Ritorno al numero
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