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Akademický článek

A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report

Autor: Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié, Salma Adham, Clarisse Billon, Anne Legrand, Xavier Jeunemaitre, Fabrice Gillas, Karen Gaudon, Philippe De Mazancourt, Ahmed Mekki, Robert Carlier, Karelle Benistan

Publikováno v: Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)

Abstract Kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristi

Externí odkaz: https://doaj.org/article/45807d7cf6fb4df093eb632eb220d642

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Akademický článek

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

Abstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue

Externí odkaz: https://doaj.org/article/d0fc9cf40c2a4de0a8134ace8ab5266e

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Akademický článek

Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort

Autor: Salma Adham, Anne Legrand, Rosa-Maria Bruno, Clarisse Billon, Violaine Dalens, Pierre Boutouyrie, Jean-Michaël Mazzella, Sonia Gueguen, Michael Frank, Tristan Mirault, Xavier Jeunemaitre

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

BackgroundVascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder due to pathogenic variants in COL3A1 leading to medium-size-artery (MSA) dissection, aneurysm, rupture. Aortic lesions are rarer and less investigated. Th

Externí odkaz: https://doaj.org/article/408cc2287c8c42df86b04b7725381bfe

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Akademický článek

Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin

Autor: Salma Adham, Nicole Revencu, Sandrine Mestre, Monira Nou‐Howaldt, Hélène Vernhet‐Kovacsik, Isabelle Quéré

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)

Abstract Background Venous malformations (VMs) are the most common vascular anomalies and have been associated with somatic variants in TEK. Current treatment of VM joint component might be challenging due to the size or location of some lesions or i

Externí odkaz: https://doaj.org/article/df06a515fc5a40bdb2413e2e85db08cf

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Akademický článek

Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.

Autor: Anne Legrand, Charline Guery, Julie Faugeroux, Erika Fontaine, Carole Beugnon, Amélie Gianfermi, Irmine Loisel-Ferreira, Marie-Christine Verpont, Salma Adham, Tristan Mirault, Juliette Hadchouel, Xavier Jeunemaitre

Publikováno v: PLoS Genetics, Vol 18, Iss 3, p e1010059 (2022)

Vascular Ehlers-Danlos syndrome is a rare inherited disorder caused by genetic variants in type III collagen. Its prognosis is especially hampered by unpredictable arterial ruptures and there is no therapeutic consensus. We created a knock-in Col3a1+

Externí odkaz: https://doaj.org/article/3eb4e60c9fb447ee8271d62732443865

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Akademický článek

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review

Autor: Salma Adham, Denis Trystram, Juliette Albuisson, Valérie Domigo, Anne Legrand, Xavier Jeunemaitre, Michael Frank

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

Abstract Background Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. Direct spontaneous carotid-cavernous fistula (sCCF) is reportedly pathognomonic of vEDS. We conducted this study to understan

Externí odkaz: https://doaj.org/article/6764d30234d642e2b3c1272338ba6d65

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Periodontal (formerly type VIII ) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype

Publikováno v: Clinical Genetics
Clinical Genetics, 2021, 100 (2), pp.206-212. ⟨10.1111/cge.13972⟩

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare condition caused by pathogenic variants in the C1R and C1S genes, encoding subunits C1r and C1s of the first component of the classical complement pathway. It is characterized by early-onset periodo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86bbe0aebb3cdb53c9366255fd136d3d
https://doi.org/10.1111/cge.13972

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Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants

Autor: Murat Alpaslan, Sandrine Mestré-Godin, Aurélie Lay, Guido Giacalone, Raphaël Helaers, Salma Adham, Hélène Kovacsik, Sophie Guillemard, Erick Mercier, Laurence Boon, Nicole Revencu, Pascal Brouillard, Isabelle Quere, Miikka Vikkula

Publikováno v: Journal of Medical Genetics, Vol. x, no.x, p. jmg-2023-109171 (2023)

BackgroundPrimary lymphoedema (PL) is a chronic, debilitating disease caused by developmental and functional defects of the lymphatic system. It is marked by an accumulation of interstitial fluid, fat and tissue fibrosis. There is no cure. More than

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8566ce7cb38cf502c937a07284aac9
https://doi.org/10.1136/jmg-2023-109171

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