Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT

Autor: Thi Thao Truc Le, Guillaume Martinent, Sophie Dupuis-Girod, Antoine Parrot, Anne Contis, Sophie Riviere, Thierry Chinet, Vincent Grobost, Olivier Espitia, Brigitte Dussardier-Gilbert, Laurent Alric, Guillaume Armengol, Hélène Maillard, Vanessa Leguy-Seguin, Sylvie Leroy, Murielle Rondeau-Lutz, Christian Lavigne, Shirine Mohamed, Laurent Chaussavoine, Pascal Magro, Julie Seguier, Mallorie Kerjouan, Sylvie Fourdrinoy

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)

Abstract Background Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients’ daily lives. To date, no scale has been validated to assess the specific symp

Externí odkaz: https://doaj.org/article/cecf83f4ed6f4dbb8475401e0e67d5cb

Augmentation du risque de tumeurs dans la dystrophie myotonique de type 1

Autor: Lelia Pruna, Pierre Kaminsky, Shirine Mohamed

Publikováno v: La Presse Médicale
La Presse Médicale, Elsevier Masson, 2013, 42 (9), pp.e281-e284. 〈10.1016/j.lpm.2013.01.052〉
La Presse Médicale, Elsevier Masson, 2013, 42 (9), pp.e281-e284. ⟨10.1016/j.lpm.2013.01.052⟩

Summary Objective Myotonic dystrophy type 1 (DM1) is characterized by an unstable expansion of a CTG repeat resulting in altered mRNA biogenesis. Benign or malignant tumours are increasingly reported. The aim of the study was to evaluate the risk of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b52a1f9621b76f142496dab8ab66bf88
https://doi.org/10.1016/j.lpm.2013.01.052

Validity of the global anti-phospholipid syndrome score to predict thrombosis: a prospective multicentre cohort study

Autor: Pierre Kaminsky, Anne-Christine Rat, Bernard Lorcerie, Gary L. Norman, Claire Lamboux-Matthieu, Stéphane Zuily, Jean-Louis Pasquali, Shirine Mohamed, Roger Albesa, Jacques Ninet, Hilde Kelchtermans, Francis Guillemin, Bas de Laat, Zakera Shums, Marc Lambert, Nadine Magy-Bertrand, Véronique Regnault, Denis Wahl

Publikováno v: Rheumatology
Rheumatology, Oxford University Press (OUP), 2015, 54 (11), pp.2071-2075. ⟨10.1093/rheumatology/kev238⟩
Rheumatology, 54(11), 2071-2075. Oxford University Press

International audience; Objective. To investigate the validity of the global APS score (GAPSS) to predict thrombosis in patients with autoimmune diseases.Methods. This prospective cohort study included consecutive patients with aPL or SLE. aPL, aPS-P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ed364e10ff55d834e719ecfdd638c1
https://hal.archives-ouvertes.fr/hal-02880738

Takayasu réfractaire et Tocilizumab

Autor: J. Galland, N. Luconi, Denis Wahl, Jessie Risse, T. Busato, Shirine Mohamed, Stéphane Zuily

Publikováno v: Journal des Maladies Vasculaires. 40:315-316

Introduction La maladie de Takayasu refractaire est une pathologie rare. L’incidence de la maladie est de 1,2–2,6 cas/million/an. Le taux de corticoresistance est de 50 %. Parmi les 50 % restants, l’adjonction d’un immunosuppresseur permet de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1ee76c5c3ff1b61d2a83d9f741173b7e
https://doi.org/10.1016/j.jmv.2015.07.046

[Increasing risk of tumors in myotonic dystrophy type 1]

Autor: Shirine, Mohamed, Lelia, Pruna, Pierre, Kaminsky

Publikováno v: Presse medicale (Paris, France : 1983). 42(9 Pt 1)

Myotonic dystrophy type 1 (DM1) is characterized by an unstable expansion of a CTG repeat resulting in altered mRNA biogenesis. Benign or malignant tumours are increasingly reported. The aim of the study was to evaluate the risk of tumor in a cohort

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::86d1680cb5de9b4afa7a3b23de60588c
https://pubmed.ncbi.nlm.nih.gov/23477718