RESUMO
BACKGROUND: Pediatric cancers are a feature in patients with Li-Fraumeni syndrome and its variant Li-Fraumeni-like syndrome (LFS/LFL). To the best of the authors' knowledge, TP53 germline mutations are currently the only molecular defect known to be associated with this disease. Recently, a specific germline mutation in this gene, p.R337H, has been reported at a high prevalence in Brazil. METHODS: The prevalence of LFS/LFL was investigated in children with cancer who were diagnosed with tumors on the LFS/LFL spectrum and in a small consecutive series of controls without cancer. The prevalence of the germline p.R337H mutation and of other germline TP53 mutations was investigated in a general group of children with cancer and exclusively in children fulfilling the clinical criteria for LFS/LFL, respectively. RESULTS: Among the 65 children without cancer, 1.5% had a family history of LFL whereas of the 292 children with cancer, 25.3% had a family history of LFL (P < .001). Screening for the p.R337H mutation identified 11 carriers (3.7%), 9 of whom were diagnosed with adrenocortical carcinomas (ACC) and 2 of whom were diagnosed with choroid plexus carcinomas. One of the ACC probands was homozygous mutant. The Brazilian founder haplotype and loss of heterozygosity at the p.R337H locus were present in all carriers. In addition, direct sequencing of the entire TP53 coding region and gene rearrangement analysis of probands fulfilling the criteria for LFL (Eeles 2 criteria, Birch and/or Chompret criteria) and who were negative for the p.R337H mutation revealed a DNA-binding domain pathogenic mutation, p.G245S, in 1 child. CONCLUSIONS: TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus carcinoma. A significant percentage of children with cancer in southern Brazil fulfill the criteria for LFL and should be referred for genetic risk assessment.
Assuntos
Síndrome de Li-Fraumeni/genética , Neoplasias/genética , Adolescente , Neoplasias do Córtex Suprarrenal/genética , Carcinoma Adrenocortical/genética , Brasil , Carcinoma/genética , Criança , Pré-Escolar , Neoplasias do Plexo Corióideo/genética , Feminino , Rearranjo Gênico , Genes p53 , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prevalência , Proteína Supressora de Tumor p53/genéticaRESUMO
A onicomicose é uma doença muito prevalente em nosso meio, cujos tratamentos atuais apresentam baixas taxas de cura, potenciais efeitos adversos e interações medicamentosas que limitam seu uso. Estudos recentes apresentam a laserterapia como uma nova opção terapêutica segura e eficaz. Foi realizado este tratamento em 12 pacientes, num total de 20 unhas acometidas, com 3 sessões de aplicação do laser Nd:YAG 1064nm pulso longo, com intervalo de duas semanas entre elas. Os resultados corroboram os dados atuais de boa resposta clínica e segurança deste novo método.
Onychomycosis is a very common condition in Brazil and one whose current treatments yield low cure rates, potential adverse effects, and drug interactions that limit their use. Recent studies have demonstrated laser therapy as a new, safe, and effective treatment option. This treatment was performed in 12 patients (with a total of 20 affected nails), with 3 application sessions of 1,064nm long pulse Nd:YAG laser, in two-week intervals. The results corroborate the current data of good clinical response and safety.
RESUMO
A esquistosomose humana, causada pelo Schistosoma mansoni, e altamente prevalente no Brasil e e usualmente diagnosticada atraves de exames de fezes, que sao demorados. Os testes sorologicos nesta doenca limitam-se aos estudos epidemiologicos, mostrando apenas o contato previo com o parasita e nao a infeccao realmente ativa. Neste trabalho, nos padronizamos e comparamos um novo ensaio de Dot-ELISA, para deteccao de IgG e IgM, utilizando antigenos similares, no estudo de uma populacao de 27 pacientes com quatificacao de ovos nas fezes...