Results 21 to 30 of about 1,245 (197)

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

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

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

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

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

Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

Archives of Medical Science, 2019
Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care ...
Marek W. Karwacki, Mariusz Wysocki, Marta Perek-Polnik, Agnieszka Jatczak-Gaca   +3 more
doaj   +1 more source

Current whole-body MRI applications in the neurofibromatoses [PDF]

, 2016
ObjectivesThe Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with
Ahlawat, S, Blakeley, JO, Bredella, MA, Cai, W, Chhabra, A, Dombi, E, Evans, DG, Farschtschi, S, Fayad, LM, Hanemann, CO, Harris, GJ, Jacobs, MA, Khan, MS, Mautner, VF, Plotkin, SR, Salamon, JM, Wenzel, R   +16 more
core   +3 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

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism [PDF]

, 2014
Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patient. Quantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicism ...
Benavente, Yolanda, Benito-Aracil, Llúcia, Blanco Guillermo, Ignacio, Capellá, G. (Gabriel), Castellsagué, Joan, Fernández-Rodríguez, Juana, Lázaro García, Conxi, Serra Arenas, Eduard   +7 more
core   +2 more sources

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1microdeletions [PDF]

, 2012
BACKGROUND: Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions
David N Cooper, Hildegard Kehrer-Sawatzki, Josef Högel, Lan Kluwe, Rosa Nguyen, Tanja Mußotter, Victor-Felix Mautner   +6 more
core   +2 more sources