Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report

Autor: Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix

Publikováno v: Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-5 (2017)

Abstract Background Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutat

Externí odkaz: https://doaj.org/article/f9b53ef458b84e4986511cd3d00801fe

Contents Vol. 231, 2015

Autor: Anne Janin, Luigi Naldi, David Swanson, Daniela Cattoni, Gunseli Ozturk, C. Lheure, Valerio De Vita, Maxime Battistella, Béatrice Flageul, Nora Kramkimel, Andrew T. Patterson, Angèle Soria, Koji Sayama, Olivier Sorg, Bengu Gerceker Turk, Frances T. Tian, Masamoto Murakami, Nathalie Franck, David C. Whiteman, Marie Masson Regnault, Yeliz Erdemoğlu, Pascal Girardin, Vincent Sibaud, François Goldwasser, Pasquale Ena, Michelle R. Iannacone, Martine Bagot, Aysin Kaya, Fumiko Oda, Fisard, Alex Llambrich, Chika Namba, H. Peter Soyer, Kana Masuda, Ryo Utsunomiya, Sylvie Fraitag, Nicolas Dupin, Marie-Françoise Avril, Rocco Micciolo, Werner Druck Medien Ag, Camille Francès, Marcia Davis, Diane Kottler, Banu Yaman, Annick Barbaud, Jean-Hilaire Saurat, Lydia Deschamps, Sebastiana Boi, Angel Pizarro, Steven C. Campbell, Sarah Guenounou, Christian Recher, Nicole M. Isbel, Gürkan Kaya, Patricia Caseiro Silverio, Satz Mengensatzproduktion, Mario Cristofolini, Miesha Merati, Naiara Fraga-Braghiroli, Henri Roche, Jonathan Fawcett, Dirk M. Elston, Astrid Queant, Nicolas Ortonne, Serge Boulinguez, Stéphane Barete, Benjamin H. Kaffenberger, Luis Javier del Pozo, Luca Ena, Nirmala Pandeya, Michel Rybojad, Lisa Ferguson, Florence Tétart, Laurence Gladieff, Agnès Carlotti, Laurence Lamant, Saskia Ingen-Housz-Oro, Harold S. Rabinovitz, Nikhil Yawalkar, Marco Ferrari, Martine Avenel-Audran, Haudrey Assier, Maria Cristina Sicher, Emilie Tournier, Pedro Zaballos, José Bañuls, Sara Laurent-Roussel, Christian Landi, Adèle C. Green, Karolina Gadaldi, Noémie Gadaud, Simone Cazzaniga, Fabienne Fontao, Gaëlle Quéreux, Nadia Raison-Peyron, Alon Scope, Béatrice Crickx, Mehdi Iskandarli, Stéphanie Amarger, Adriano Decarli, Gabriella Fabbrocini, Vittorio Mazzarello, Angel Vera

Publikováno v: Dermatology (Basel, Switzerland). 231(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c83e75d2bfa4f132a6f8dc72b03d298
https://pubmed.ncbi.nlm.nih.gov/26529429

Uveitis in patients with late-stage cutaneous melanoma treated with vemurafenib

Autor: Mikael Guedj, Elisa Funck-Brentano, Amelie Gantzer, Judith Lellouch, Christine Longvert, Astrid Queant, Dominique Monnet, Nora Kramkimel, Antoine P. Brézin

Publikováno v: JAMA ophthalmology. 132(12)

Importance This case series highlights the risk of uveitis in patients treated with vemurafenib for unresectable or metastatic cutaneous melanoma. Objective To assess the occurrence and severity of uveitis as an adverse effect of vemurafenib therapy.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb96bbc02f52676c0405d0416030c24d
https://pubmed.ncbi.nlm.nih.gov/25125216