Results 81 to 90 of about 971 (198)

A diagnostic approach to neurocutaneous syndromes

Arquivos de Neuro-Psiquiatria
Neurocutaneous syndromes are a group of genetically and phenotypically diverse disorders that primarily affect the skin, central and peripheral nervous systems, and eyes.
Sofia Mônaco Gama, João Vitor Gerdulli Tamanini, Marianna Pinheiro Moraes de Moraes, Thiago Yoshinaga Tonholo Silva, Fernanda Teresa de Lima, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
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

Neurofibromatoses: part 1 – diagnosis and differential diagnosis

, 2017
Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos.
Rodrigues, Luiz Oswaldo Carneiro, Souza-Costa, Danielle de, Ferraz-Filho, Jose Roberto Lopes, Miranda, Debora Marques de, Madeira, Luciana Goncalves, Souza, Mercio Leandro Ribeiro de, Gianordoli-Nascimento, Ingrid F., Valadares, Eugenia Ribeiro, Mendes, Herika Martins, Pavarino, Erika Cristina, Baptista-Pereira, Luciana, Rodrigues, Luíza de Oliveira, Silva, Carla Menezes da, Darrigo-Junior, Luiz Guilherme, Rezende, Nilton A., Eliam, Miguel, Goloni-Bertollo, Eny Maria, Malloy-Diniz, Leandro Fernandes, Vidigal, Paula Vieira Teixeira, Cunha, Karin Soares Goncalves, Stangherlin, Aline, Eliam, Lucas, Batista, Pollyanna Barros, Souza, Juliana Ferreira de, Geller, Mauro   +24 more
core  

A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma [PDF]

Journal of Clinical and Diagnostic Research
Neurofibromatoses are a group of genetic disorders that cause tumours to form on the nerve tissue. These tumours can progress to more proliferative lesions and can also eventually become malignant, giving rise to a Malignant Peripheral Nerve Sheath ...
Apoorva Pande, Samarth Shukla, Sourya Acharya, Pravin Gadkari, Milind Pande   +4 more
doaj   +1 more source

Neurofibromatosis type 1 association with moyamoya disease

, 2008
PubMedID: 18576213The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues.
Koc Z., Yerdelen D., Koç F.
core   +1 more source

THE NEUROFIBROMATOSES

, 2006
HUSON SM, RUGGIERI, MARTINO
core   +5 more sources

Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.

PLoS ONE, 2017
The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient.
Mindell Seidlin, Robert Holzman, Pamela Knight, Bruce Korf, Vanessa Rangel Miller, David Viskochil, Annette Bakker, Children’s Tumor Foundation   +7 more
doaj   +1 more source

FEOCROMOCITOMA E NEUROFIBROMATOSE 1

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2014
Introdução: Feocromocitomas são tumores originários de células cromafins do sistema simpato-adrenal. As suas manifestações clínicas são múltiplas e diversificadas, função do perfil secretório variável de múltiplos compostos, incluindo catecolaminas ...
Rui Tavares-Bello, Mafalda Marcelino, Ema L. Nobre, Luís Lopes, Carlos Lopes, João Jácome de Castro   +5 more
doaj   +1 more source

Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Pinar del Río Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio

Revista de Ciencias Médicas de Pinar del Río, 2012
El neurofibroma plexiforme es un tumor complejo, que involucra varios tejidos. Llevan a una distorsión masiva del lugar donde se encuentran, originando problemas estéticos y médicos. Con este trabajo se pretende conocer la frecuencia de los neurofibromas
Miladys Orraca Castillo, Deysi Licourt Otero   +1 more
doaj  

Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients?

The Turkish Journal of Pediatrics, 2016
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and ...
Hikmet Gülşah Tanyıldız, Şule Yeşil, Ceyhun Bozkurt, Mehmet Onur Çandır, Sibel Akpınar-Tekgündüz, Şule Toprak, Deniz Yüksel, Gürses Şahin   +7 more
doaj   +1 more source