Neurofibromatosis Type 1
Mostrando 13-24 de 106 artigos, teses e dissertações.
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13. Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1
Abstract: We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was t
An. Bras. Dermatol.. Publicado em: 2017-03
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14. Isolated plexiform neurofibroma mimicking a vascular lesion
Abstract Plexiform neurofibromas are benign tumors originating from peripheral nerve sheaths, generally associated with Neurofibromatosis Type 1 (NF1). They are diffuse, painful and sometimes locally invasive, generating cosmetic problems. This report discusses an adolescent patient who presented with an isolated, giant plexiform neurofibroma on her leg that
An. Bras. Dermatol.. Publicado em: 2016-04
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15. Massive Plexiform Neurofibroma of the Neck and Larynx
Introduction Laryngeal neurofibromas are extremely rare, accounting for only 0.03 to 0.1% of benign tumors of the larynx. Objectives To report the first case of massive neck plexiform neurofibroma with intralaryngeal (supraglottic) extension in a 5-year-old boy with neurofibromatosis type 1 and to describe its treatment. Resumed Report This massive ple
Int. Arch. Otorhinolaryngol.. Publicado em: 2015-12
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16. Association between atypical parathyroid adenoma and neurofibromatosis
Primary hyperparathyroidism is a disease characterized by excessive production of parathyroid hormone (PTH), which is due to a parathyroid adenoma in 85% of cases. An atypical parathyroid adenoma, with some histopathological features of parathyroid carcinoma, may be found in some of the cases, although it may not fulfill all the criteria for this diagnosis.
Arch. Endocrinol. Metab.. Publicado em: 25/09/2015
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17. Vitamina D, polimorfismos do gene VDR e neurofibromatose 1
Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene (17q11.2, neurofibromin). The estimated incidence is approximately 1:3500 newborns and clinical diagnosis is possible in the majority cases. A few studies suggest that patients with NF1 are more likely to have vitamin D deficiency when compared
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2012
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18. Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1.
A neurofibromatose tipo 1 (NF1) em crianças e adolescentes está frequentemente associada com o aparecimento ou desaparecimento de lesões focais de hipersinal no encéfalo na ponderação T2 (FHE-T2). Estas lesões não são aceitas como critério diagnóstico para NF1 e sua natureza exata ainda não está clara. Objetivos: artigo 1: Avaliar a relação en
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 21/10/2011
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19. Neurofibromatose tipo 1: sobre o que não se vê e o que se sente - uma travessia entre a invisibilidade social e o conhecimento sobre a doença
The Neurofibromatosis type 1 (NF1) is a genetic autosomal dominat disease, that has unpredictable manifestation and course, and occurs in approximately 1:2500 births. Although the most common symptoms have benign clinical features, somatic, aesthetic, and psychosocial aspects interfere in patient s daily life. Among these symptoms are the most common changes
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 19/07/2011
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20. Retrospective analysis of oral peripheral nerve sheath tumors in Brazilians
Traumatic neuroma, neurofibroma, neurilemmoma, palisaded encapsulated neuroma and malignant peripheral nerve sheath tumor (MPNST) are peripheral nerve sheath tumors and present neural origin. The goal of this study was to describe the epidemiological data of oral peripheral nerve sheath tumors in a sample of the Brazilian population. Biopsies requested from
Brazilian Oral Research. Publicado em: 2009-03
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21. Neurofibromatose tipo 1 na infância: revisão dos aspectos clínicos
OBJETIVO: Realizar uma revisão da literatura sobre neurofibromatose tipo 1 (NF1) em crianças e adolescentes, enfatizando as manifestações clínicas. FONTES DE DADOS: Artigos publicados, indexados na base de dados Medline e publicados entre 1998 a 2007, buscados pelos seguintes termos: "neurofibromatosis type 1", "neurofibroma", "von Recklinghausen" e "op
Revista Paulista de Pediatria. Publicado em: 2008-06
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22. Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1
OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients. INTRODUCTION: The development of multiple neurofibromas is one of the major features of neurofibromatosis type 1. Since neurofibromas commonly grow during periods of hormonal change, especially during pu
Clinics. Publicado em: 2008
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23. High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1
A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axill
Brazilian Journal of Medical and Biological Research. Publicado em: 2005-09
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24. Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they co
Genetics and Molecular Biology. Publicado em: 2004