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3.
In Vivo ; 34(1): 441-445, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31882511

RESUMO

A 59-year-old woman, undergoing treatment with encorafenib for metastatic BRAF mutated colorectal cancer, developed during the first two months of therapy multiple eruptive nevi and changes in pre-existing nevi. Development of eruptive nevi has increasingly been reported in association with medications, most frequently conventional immunosuppressants and biologics. Some drugs are associated with eruptive nevi through an indirect effect of their mechanism of action, whereas other drugs are directly implicated in melanocyte proliferation. In this regard, BRAF inhibitors have been demonstrated to activate the MAPK pathway, and to promote cellular proliferation and survival, therefore leading to the development of new melanocytic nevi and to an increase in the size and hyperpigmentation of pre-existing nevi. A dermatological assessment and follow-up should be recommended in all patients presenting with eruptive nevi, regardless of the pathogenesis, because a high number of acquired melanocytic nevi may represent an adjunctive risk factor for melanoma.


Assuntos
Carbamatos/efeitos adversos , Neoplasias Colorretais/tratamento farmacológico , Melanoma/induzido quimicamente , Nevo Pigmentado/induzido quimicamente , Inibidores de Proteínas Quinases/efeitos adversos , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/induzido quimicamente , Sulfonamidas/efeitos adversos , Neoplasias Colorretais/secundário , Feminino , Humanos , Melanoma/patologia , Pessoa de Meia-Idade , Mutação , Nevo Pigmentado/patologia , Prognóstico , Proteínas Proto-Oncogênicas B-raf/antagonistas & inibidores , Neoplasias Cutâneas/patologia
5.
Sci Rep ; 7(1): 16060, 2017 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-29167533

RESUMO

Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease progression in dystrophinopathies. Correlation with clinically meaningful outcome measures such as North Star Ambulatory Assessment (NSAA) and 6 minute walk test (6MWT) is paramount for biomarker qualification. In this study, 51 molecularly confirmed BMD patients (aged 7-69 years) underwent muscle MRI and were evaluated with functional measures (NSAA and 6MWT) at the time of the MRI, and subsequently after one year. We confirmed a pattern of fatty substitution involving mainly the hip extensors and most thigh muscles. Severity of muscle fatty substitution was significantly correlated with specific DMD mutations: in particular, patients with an isolated deletion of exon 48, or deletions bordering exon 51, showed milder involvement. Fat infiltration scores correlated with baseline functional measures, and predicted changes after 1 year. We conclude that in BMD, skeletal muscle MRI not only strongly correlates with motor function, but also helps in predicting functional deterioration within a 12-month time frame.


Assuntos
Imageamento por Ressonância Magnética , Músculo Esquelético/fisiopatologia , Distrofia Muscular de Duchenne/fisiopatologia , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Adulto , Idoso , Criança , Análise por Conglomerados , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
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