Results 51 to 60 of about 87,175,870 (148)

Comparing 3D imaging devices for the measurement of cutaneous neurofibromas in patients with Neurofibromatosis Type 1

Skin Research and Technology, Volume 30, Issue 9, September 2024.
Abstract Background Cutaneous neurofibromas (cNFs) are a major cause of disfigurement in patients with Neurofibromatosis Type 1 (NF1). However, clinical trials investigating cNF treatments lack standardised outcome measures to objectively evaluate changes in cNF size and appearance.
Jonathan C. L. Lau, Jane Fleming, Martin Good, Adrian Lim, Rebecca B. Saunderson, Tai A. Phan, Timothy Schlub, Sue‐Faye Siow, Nanette Lacson, Carlos Romo, Jaishri Blakely, Christina Bergqvist, Yemima D. Berman   +12 more
wiley   +1 more source

Disfunção autonômica termorregulatória na neurofibromatose do tipo 1 [PDF]

, 2016
Objetivo: Neurofibromatose do tipo 1 (NF1) causa problemas neurais e cutâneos e diminuição da capacidade física. O aumento da temperatura interna durante exercício e exposição ao calor precisa ser compensada pela função sudorípara écrina (FSE) e ...
Juliana Ferreira de Souza, Luciana Gonçalves Madeira, Luiz Oswaldo Carneiro Rodrigues, Nilton Alves de Rezende, Renata Lane de Freitas Passos   +4 more
core   +1 more source

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

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

HEMOTHORAX SPONTANEE DANS LA NEUROFIBROMATOSE TYPE 1 : A PROPOS DUN CAS

<p>La neurofibromatose type est une maladie autosomique dominante responsable de multiples atteintes dermatologiques, neurologiques et vasculaires.
Ikrame Berramou , Manal Rhezali , Taoufik Abouelhassan and Hicham Nejmi
core   +1 more source

Neurofibromatose tipo 1 e suas manifestações bucomaxilofaciais [PDF]

, 2008
A neurofibromatose é uma doença hereditária autossômica dominante que afeta, sobretudo, os tecidos moles. O objetivo deste estudo foi revisar aspectos clínicos e radiográficos bucomaxilofaciais da Neurofibromatose tipo 1 (NF1).
Cunha Filho, João Julio da, Scortegagna, Ademar, Robinson, Wanyce Miriam, Schwengber, Marcos Miguel Bechstedt, Martins, Flávio   +4 more
core   +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

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

Corrélation génotype-phénotype dans la neurofibromatose de type 1 Évaluation des corrélations phénotype-génotype dans la neurofibromatose de type 1

, 2016
La neurofibromatose de type 1 (NF1 ; numéro OMIM 162200), ou maladie de Von Recklinghausen, est l'une des maladies génétiques rares les plus fréquentes. Elle a une répartition mondiale homogène et une incidence estimée à 1 cas pour 2500 naissances.
Sabbagh, Audrey, Curis, Emmanuel, Pizzighella, Sandro, Nicolis, Ioannis, Metaane, Selma, da Silva, Alexandre   +5 more
core