Results 21 to 30 of about 2,439 (246)

Neurofibromatosis: part 2 – clinical management

Arquivos de Neuro-Psiquiatria, 2015
Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors
Pollyanna Barros Batista, Eny Maria Goloni Bertollo, Danielle de Souza Costa, Lucas Eliam, Karin Soares Gonçalves Cunha, José Renan Cunha-Melo, Luiz Guilherme Darrigo Junior, Mauro Geller, Ingrid Faria Gianordoli-Nascimento, Luciana Gonçalves Madeira, Hérika Martins Mendes, Débora Marques de Miranda, Nikolas Andre Mata-Machado, Eric Grossi Morato, Érika Cristina Pavarino, Luciana Baptista Pereira, Nilton Alves de Rezende, Luíza de Oliveira Rodrigues, Jorge Bezerra Cavalcanti Sette, Carla Menezes da Silva, Juliana Ferreira de Souza, Márcio Leandro Ribeiro de Souza, Aline Stangherlin Martins, Eugênia Ribeiro Valadares, Paula Vieira Teixeira Vidigal, Vanessa Waisberg, Yehuda Waisberg, Luiz Oswaldo Carneiro Rodrigues   +27 more
doaj   +1 more source

The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]

مجله دانشگاه علوم پزشکی گرگان, 2023
Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj  

Pharmacology of inhibitors of Janus kinases – Part 2: Pharmacodynamics

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 12, Page 1621-1631, December 2022., 2022
Summary As small molecules, the Janus kinase inhibitors have different, dose‐dependent pharmacological binding selectivities, which, however, do not allow reliable statements about the clinical specificity of desired or side effects. It is therefore of particular importance to recognize that the pharmacodynamics of the individual Janus kinase ...
Adina Eichner, Johannes Wohlrab
wiley   +1 more source

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]

, 2020
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J, Baker, Aaron, Banerjee, Jineta, Blakeley, Jaishri O, Gosline, Sara Jc, Greene, Casey S, Guinney, Justin, Hirbe, Angela, Moon, Chang In, Pratilas, Christine A, Taroni, Jaclyn N, Zhang, Xiaochun   +11 more
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Pharmakologie der Januskinase‐Inhibitoren – Teil 2: Pharmakodynamik

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 12, Page 1621-1631, December 2022., 2022
Zusammenfassung Als niedermolekulare Substanzen haben die Januskinase‐Inhibitoren unterschiedliche, dosisabhängige pharmakologische Bindungsselektivitäten, die allerdings keine verlässlichen Aussagen über die klinische Spezifität gewünschter oder unerwünschter Wirkeffekte ermöglichen.
Adina Eichner, Johannes Wohlrab
wiley   +1 more source

Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

Arquivos de Neuro-Psiquiatria, 2014
Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs ...
Luiz Oswaldo Carneiro Rodrigues, Pollyanna Barros Batista, Eny Maria Goloni-Bertollo, Danielle de Souza-Costa, Lucas Eliam, Miguel Eliam, Karin Soares Gonçalves Cunha, Luiz Guilherme Darrigo Junior, José Roberto Lopes Ferraz Filho, Mauro Geller, Ingrid F. Gianordoli-Nascimento, Luciana Gonçalves Madeira, Leandro Fernandes Malloy-Diniz, Hérika Martins Mendes, Débora Marques de Miranda, Erika Cristina Pavarino, Luciana Baptista-Pereira, Nilton A. Rezende, Luíza de Oliveira Rodrigues, Carla Menezes da Silva, Juliana Ferreira de Souza, Márcio Leandro Ribeiro de Souza, Aline Stangherlin, Eugênia Ribeiro Valadares, Paula Vieira Teixeira Vidigal   +24 more
doaj   +1 more source

Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients

Journal of the European Academy of Dermatology and Venereology, Volume 36, Issue 5, Page 739-743, May 2022., 2022
Abstract Background Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene NF1. Its clinical manifestations are highly variable and unpredictable. A specific NF1 mutation does not predict the severity or complications of the disease.
C. Bergqvist, L. Fertitta, K. Ezzedine, A. Jannic, O. Zehou, S. Ferkal, P. Combemale, S. Barbarot, J. Mazereeuw‐Hautier, E. Sbidian, P. Wolkenstein, NF France, Henri Adamski, Clarisse Baumann‐Morel, Christine Bellanné, Eric Bieth, Pascal Bousquet, Christian Brandt, Xavier Balguerie, Pierre Castelnau, Yves Chaix, Jacqueline Chevrant‐Breton, Evelyne Collet, Jean‐François Cuny, Pascal Chastagner, Marie‐Lorraine Chandeclerc, Emmanuel Cheuret, Pascal Cintas, Helene Dollfus, Christian Derancourt, Valérie Drouin‐Garraud, Michel d'Incan, Hélène De Leersnyder, Olivier Dereure, Diane Doumar, Nicolas Fabre, Vincenza Ferraro, Christine Francannet, Laurence Faivre, Florence Fellmann, Nathalie Feugier, Dominique Gaillard, Alice Goldenberg, Lucie Guyant‐Marechal, Bernard Guillot, Jean‐Sebastien Guillamo, Smaïl Hadj‐Rabia, Dominique Hamel‐Teillac, Isabelle Kemlin, Jean‐Philippe Lacour, Veronique Laithier, Nathalie Lesavre, Stanislas Lyonnet, Kim Maincent, Sophie Maradeix, Laurent Machet, Eva Mansat, Nicolas Meyer, Monique Mozelle, Jean Christophe Moreno Celine Moret, Eric Puzenat, Béatrice Parfait, Stéphane Pinson, Eric Pasmant, Diana Rodriguez, Jean‐François Stalder, Elisabeth Schweitzer, Claire Thalamas, Christel Thauvin, Dominique Vidaud, Michel Vidaud, Alain Verloes, Jacques Zeller   +72 more
wiley   +1 more source

Pediatric neurofibromatosis 1 and parental stress: a multicenter study [PDF]

, 2014
Background: Neurofibromatosis 1 (NF1) is a complex and multifaceted neurocutaneous syndrome with many and varied comorbidities. The literature about the prevalence and degree of maternal stress and the impact of NF1 in the parent–child interaction is ...
Carotenuto, M., Esposito, M, Gallai, B, Lavano, SM, Marotta, R, PARISI, Lucia, ROCCELLA, Michele   +6 more
core   +2 more sources

Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1 [PDF]

, 1997
Objective. To establish the prevalence of endocrinologic disorders in children with neurofibromatosis type 1 (NF1) and the relationship between these disorders and cerebral abnormalities on magnetic resonance imaging. Design.
Cnossen, M.H. (Marjon), Cooiman, L.C.M.G. (Linda C. M. G.), Goede-Bolder, A. (Arja) de, Halley, D. (Dicky), Muinck Keizer-Schrama, S.M.P.F. (Sabine) de, Niermeijer, M.F. (Martinus), Oranje, A.P. (Arnold), Simonsz, H.J. (Huib), Stam, E.N. (Esther N.), Stroink, H. (Hans)   +9 more
core   +1 more source

Dermoscopy of the iris: identification of Lisch nodules and contribution to the diagnosis of neurofibromatosis type 1

Anais Brasileiros de Dermatologia, 2021
Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented ...
Luciana Pavan Antoniolli, Laura de Mattos Milman, Renan Rangel Bonamigo   +2 more
doaj   +1 more source