Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022.

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

Journal

Annales d'endocrinologie
ISSN: 2213-3941
Titre abrégé: Ann Endocrinol (Paris)
Pays: France
ID NLM: 0116744

Informations de publication

Date de publication:
Dec 2022
Historique:
received: 29 06 2022
accepted: 06 07 2022
pubmed: 8 10 2022
medline: 17 12 2022
entrez: 7 10 2022
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 36206842
pii: S0003-4266(22)00841-1
doi: 10.1016/j.ando.2022.07.674
pii:
doi:

Types de publication

Clinical Conference

Langues

eng

Sous-ensembles de citation

IM

Pagination

461-468

Subventions

Organisme : Medical Research Council
ID : MC_UU_00014/2
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/12/13/29853
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12012/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0802051
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00014/5
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0400192
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/18/7/33636
Pays : United Kingdom

Informations de copyright

Copyright © 2022 Elsevier Masson SAS. All rights reserved.

Auteurs

Héléna Mosbah (H)

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; Sorbonne University, Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Paris, France.

Baris Akinci (B)

Division of Endocrinology and Metabolism, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

David Araújo-Vilar (D)

UETeM-Molecular Pathology Group. Department of Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago de Compostela, Spain.

Juan Carrion Tudela (J)

Asociación Internacional de Familiares y Afectados de Lipodistrofias, Calle San Cristobal 7, 30850 Totana, Murcia, España.

Giovanni Ceccarini (G)

Obesity and Lipodystrophy Center, Department of Clinical and Experimental Medicine, Endocrinology Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy.

Philippe Collas (P)

Department of Molecular Medicine, Faculty of Medicine, University of Oslo, PO Box 1112 Blindern, 0317 Oslo, Norway; Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway.

I Sadaf Farooqi (IS)

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.

Antía Fernández-Pombo (A)

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; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.

Isabelle Jéru (I)

Sorbonne University, Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Paris, France; Assistance Publique-Hôpitaux de Paris (AP-HP), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France.

Fredrik Karpe (F)

Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK; National Institute for Health and Care Research, Oxford Biomedical Research Centre, Oxford University Hospitals Foundation Trust, Oxford, UK.

Kerstin Krause (K)

Medical Department III - Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.

Margherita Maffei (M)

Istituto di Neuroscienze, Consiglio Nazionale delle Ricerche, 56124 Pisa, Italy.

Konstanze Miehle (K)

Medical Department III - Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.

Elif Oral (E)

Division of Metabolism, Endocrinology & Diabetes and Caswell Diabetes Institute, University of Michigan, Ann Arbor, MI, USA.

Naca Perez de Tudela (N)

Asociación Internacional de Familiares y Afectados de Lipodistrofias, Calle San Cristobal 7, 30850 Totana, Murcia, España.

Xavier Prieur (X)

Nantes Université, CNRS, Inserm, l'institut du thorax, 44000 Nantes, France.

Justin Rochford (J)

The Rowett Institute and Aberdeen Cardiovascular and Diabetes Centre, University of Aberdeen, Aberdeen AB25 2ZD, UK.

Rebecca Sanders (R)

Lipodystrophy UK, Oxford, UK.

Ferruccio Santini (F)

Obesity and Lipodystrophy Center, Department of Clinical and Experimental Medicine, Endocrinology Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy.

David B Savage (DB)

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.

Julia von Schnurbein (J)

Center for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.

Robert Semple (R)

Centre for Cardiovascular Science, The University of Edinburgh, and MRC Human Genetics Unit, Institute of Genetics and Cancer, Edinburgh, UK.

Anna Stears (A)

Institute of Metabolic Science, University of Cambridge, Cambridge University Hospitals NHS Trust, Cambridge, UK.

Ekaterina Sorkina (E)

Endocrinology Research Centre, 11, ulitsa Dmitriya Ulianova, 117036 Moscow, Russia.

Marie-Christine Vantyghem (MC)

Department of Endocrinology, Diabetology, and Metabolism, CHU Lille, and Inserm, Institut Pasteur Lille, Lille University, U1190 - EGID, 59000 Lille, France.

Camille Vatier (C)

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; Sorbonne University, Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Paris, France.

Antonio Vidal-Puig (A)

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, MDU MRC, and Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

Corinne Vigouroux (C)

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; Sorbonne University, Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Paris, France. Electronic address: corinne.vigouroux@inserm.fr.

Martin Wabitsch (M)

Center for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.

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