RESUMEN
PURPOSE: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. METHODS: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. RESULTS: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. CONCLUSION: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.
Asunto(s)
Inhibidor p18 de las Quinasas Dependientes de la Ciclina/genética , Predisposición Genética a la Enfermedad , Melanoma/genética , Receptor de Melanocortina Tipo 1/genética , Adulto , Anciano , Inhibidor p16 de la Quinasa Dependiente de Ciclina , Femenino , Asesoramiento Genético , Mutación de Línea Germinal , Humanos , Masculino , Melanoma/diagnóstico , Melanoma/epidemiología , Melanoma/patología , Persona de Mediana Edad , Factores de Riesgo , EspañaAsunto(s)
Metaloproteinasa 2 de la Matriz/metabolismo , Melanoma/diagnóstico , Neoplasias Cutáneas/diagnóstico , Inhibidor Tisular de Metaloproteinasa-2/metabolismo , Factores de Edad , Biomarcadores de Tumor/metabolismo , Estudios Transversales , Femenino , Humanos , Técnicas para Inmunoenzimas/métodos , Masculino , Melanoma/metabolismo , Melanoma/secundario , Pronóstico , Neoplasias Cutáneas/metabolismoRESUMEN
Objetivo: Avaliar os dados com os quais trabalham os residentes dos Serviços de Pediatria de Porto Alegre RS sobre fotoproteção e câncer da pele, comparados com os especializandos de dermatologia da mesma cidade. Materias e métodos: Estudo descritivo transversal; incluindo 58 residentes de pediatria (RP) e 34 especializandos de dermatologia (ED) que responderam a questionário estruturado sobre fotoproteção e câncer da pele. Resultados: Dos RP 38% e dos ED 97% obtiveram informações sobre fotoproteção na pós-graduação. Quando perguntado aos RP se indicam protetor solar, 15% indicam sempre, 36,20% freqüentemente, 36,20% algumas vezes, 11,9% raramente. Quando realizado o mesmo questionamento aos ED, 67,64% indicam sempre, 29,41% freqüentemente e 2,95% algumas vezes (p= 0,0002). Quanto à capacidade de avaliar sinais em crianças, dentre os RP ,17,24% afirmam sentirem-se muito capazes, 70,68% pouco capazes e 12,06% incapazes. Já dentre os ED, 44,11% sentem-se muito capazes, 52,94% pouco capazes e 2,94% incapazes (p= 0,015). Conclusão: Os dados sugerem que os residentes de pediatria provavelmente devam aprimorar seus estudos em fotoproteção. É importante ressaltar o papel dos programas de pós-graduação em Pediatria em enfatizar a necessidade de estudos sobre fotoproteção e em capacitar adequadamente os futuros profissionais para avaliações de lesões cutâneas em crianças (AU)
Objective: To evaluate information concerning photoprotection and skin cancer as used by pediatrics residents in comparison to dermatology residents in Porto Alegre RS. Material and Methods: This is a transversal descriptive study including 58 pediatrics residents (PRs) and 34 dermatology residents (DRs) who answered a questionnaire about their knowledge and practices as regards photoprotection and skin cancer. Results: Thirty eight percent of the PRs and 97% of the DRs had received information about photoprotection in postgraduate courses. When asked if they prescribe sunscreens, 15% of the PRs said they always do, 36.20% often do, 36.20% sometimes, and 11.9% rarely. On the other hand, 67.64% of the DRs said they always prescribe sunscreens, 29.41% often do and 2.95% sometimes (p=0.0002). Concerning the ability to evaluate signs in children, 17.24% of the PR said they feel very capable, 70.68% little capable and 12.06% incapable. Among the DRs, 44.11% felt very capable, 52.94% little capable and 2.94% incapable (p=0,015). Conclusion: The data suggest that the pediatrics residents should improve their knowledge on photoprotection. It is important to highlight the role of the pediatrics graduate programs in emphasizing the need for studies into photoprotection and in adequately qualifying the future professionals to evaluate skin lesions in children (AU)
Asunto(s)
Humanos , Masculino , Femenino , Pediatría/educación , Neoplasias Cutáneas/prevención & control , Luz Solar/efectos adversos , Protectores Solares/uso terapéutico , Conocimientos, Actitudes y Práctica en Salud , Internado y Residencia , Estudiantes de Medicina/estadística & datos numéricos , Brasil , Estudios Transversales , Dermatología/educaciónRESUMEN
O Cryptococcus neoformans é um fungo oportunista responsável por infecções em humanos. O trabalho revisa a literatura sobre os aspectos epidemiológico, microbiológico, clínico e terapêutico da criptococose em nosso meio