Results 61 to 70 of about 743 (164)

Reporte de familias con neurofibromatosis y otras enfermedades genéticas Reports of families suffering from neurofibromatosis and other genetic disorders

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

Neurofibroma solitario en pared abdominal en paciente sin neurofibromatosis: reporte de caso

Biomédica: revista del Instituto Nacional de Salud, 2009
Introducción. Los neurofibromas solitarios son tumores benignos de carácter hereditario, que presentan variantes. Las manifestaciones clínicas cambian según su localización y, ocasionalmente, son similares a las de la neurofibromatosis.
Juan Sebastián Barajas, Ludwing Flórez Salamanca   +1 more
doaj   +1 more source

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

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

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

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Case Reports in Psychiatry, 2019
Introduction. Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help.
Ana Moscoso, Aurélie Julien, Antoine Tanet, Angèle Consoli, Martine Pagnard, France Trevisan, Isabelle Kemlin, Diana Rodriguez, David Cohen   +8 more
doaj   +1 more source