Results 61 to 70 of about 1,890 (196)

GABA deficiency in NF1: a multimodal [11C]-Flumazenil and spectroscopy study [PDF]

, 2016
Objective: To provide a comprehensive investigation of the GABA system in patients with Neurofibromatosis type 1 (NF1) that allows understanding the nature of the GABA imbalance in humans at pre- and post-synaptic levels. Methods: In this cross-sectional
Abrunhosa, AJ, Bernardino, I, Castelo-Branco, M, Ferreira, N, Patricio, M, Rebola, J, Ribeiro Violante, I   +6 more
core   +1 more source

Case for diagnosis [PDF]

, 2011
O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de, DINATO, Marcelo Mattos e, DINATO, Sandra Lopes Mattos e, NÓVOA, Estela Gemha de, ROMITI, Ney   +4 more
core   +3 more sources

Familial Spinal Manifestations of Neurofibromatosis Type 1 : A Report of Two Cases

Health Research in Africa
Neurofibromatosis type 1 (NF1) is a common inherited autosomal dominant disease. The most frequent manifestations are cutaneous and neurological. We report a case of familial deforming neurofibromatosis type 1 in a mother and daughter causing slow cord ...
Julie Marie Adeline W Kyelem, Yakouba Haro, Madi Kam, Siguiya Abraham W Zaongo, Alfred Anselme Dabilgou, Djingri Labodi D Lompo, Christian Napon, Athanase Millogo   +7 more
doaj   +1 more source

Progesterone and Estrogen Receptors in Neurofibromas of Patients with NF1

Clinical Medicine Insights: Pathology, 2008
Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a genetic disorder affecting the growth of cells in nervous system. One of the most remarkable characteristics of this disease is the development of benign tumors of the nervous system ...
Mauro Geller, Spyros G.E. Mezitis, Fabio Pereira Nunes, Marcia G. Ribeiro, Alexandra Prufer de Q.C. Araújo, Marcello D. Bronstein, Rodrigo Siqueira-Batista, Andréia Patrícia Gomes, Lisa Oliveira, Karin Soares Gonçalves Cunha   +9 more
doaj   +1 more source

Tumeur maligne des gaines nerveuses périphériques révélant une neurofibromatose type 1 [PDF]

, 2010
La Neurofibromatose type 1 (NF1) ou maladie de Von Recklinghausen est une affection à expression clinique variable. La transformation maligne est rare et redoutable.
Boudawara, T, Chakroun, A, Chakroun, A.M, Charfeddine, I, Frikha, I, Ghorbel, A, Hadj Kacem, A, Hammami, B, Kallel, S, Makni, S, Mnejja, M   +10 more
core   +2 more sources

Asymmetry of thalamic hypometabolism on FDG‐PET/CT in neurofibromatosis type 1: Association with peripheral tumor burden

Journal of Neuroimaging, Volume 34, Issue 1, Page 138-144, January/February 2024.
Abstract Background and Purpose Thalamic hypometabolism is a consistent finding in brain PET with F‐18 fluorodeoxyglucose (FDG) in patients with neurofibromatosis type 1 (NF1). However, the pathophysiology of this metabolic alteration is unknown. We hypothesized that it might be secondary to disturbance of peripheral input to the thalamus by NF1 ...
Cansu Özden, Victor‐Felix Mautner, Said Farschtschi, Isabel Molwitz, Inka Ristow, Peter Bannas, Lennart Well, Susanne Klutmann, Gerhard Adam, Ivayla Apostolova, Ralph Buchert   +10 more
wiley   +1 more source

Piebaldisme: une génodermatose rare

The Pan African Medical Journal, 2017
Le piebaldisme est une génodermatose rare de transmission autosomique dominante. Il est du à l'absence congénitale des mélanocytes aux zones touchées. Nous en rapportant un cas.
Fatima Zahra Debbarh, Fatima Zahra Mernissi   +1 more
doaj   +1 more source

Néphrectomie bilatérale de sauvetage compliquant une sclérose tubéreuse de Bourneville

The Pan African Medical Journal, 2014
La sclérose tubéreuse de Bourneville (STB) est une phacomatose autosomique dominante en rapport avec la mutation de deux gènes suppresseurs de tumeurs TSC1 et TSC2.
Mohamed El Amrani, Mounia Azizi
doaj   +1 more source

Le gradient entre la pression pulmonaire artérielle diastolique et la pression pulmonaire d'occlusion est important dans l'évaluation des hypertensions pulmonaires post- capillaires [PDF]

, 2012
Les hypertensions pulmonaires post-capillaires sont définies par une pression artérielle moyenne (PAPm) ≥ 25mmHg et une pression pulmonaire d'occlusion (PAPO) > 15mmHg.
Stettler, S.
core  

CD95 maintains stem cell-like and non-classical EMT programs in primary human glioblastoma cells [PDF]

, 2016
Glioblastoma (GBM) is one of the most aggressive types of cancer with limited therapeutic options and unfavorable prognosis. Stemness and non-classical epithelial-to-mesenchymal transition (ncEMT) features underlie the switch from normal to neoplastic ...
Chen, S., Cirovic, B., Drachsler, M., Gieffers, C., Kleber, S., Martin-Villalba, A., Mateos, A., Mohr, N., Mueller, W., Sykora, J., Synowitz, M., Tuettenberg, J., Volk, K., Wirtz, C. R.   +13 more
core   +2 more sources