EUGENIO RAUL DE ALMEIDA PIMENTEL
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
4 resultados
Resultados de Busca
Agora exibindo 1 - 4 de 4
bookPart Procedimentos dermatológicos em pediatria(2022) GONçALVES, Daniel Luiz Marques; FORTES, Ana Cristina; PIMENTEL, Eugenio Raul- Elastosis perforans serpiginosa(2016) SAMORANO, L.; PIMENTEL, E. R. De Almeida; NICO, M. M. S.Elastosis perforans serpiginosa is an uncommon and chronic dermatosis characterized by transepidermal elimination of abnormal elastic fibers originating in the dermis. Diagnosis is based on clinical and histopathologic aspects. Treatment has included various modalities and cryotherapy is one of the effective options. Favored method includes the use of open spray timed spot freeze technique and one to two sessions are usually enough to treat some grouped papules. © Springer-Verlag London 2016. All rights reserved.
bookPart Tumores pré-malignos e malignos sólidos(2019) PIMENTEL, Eugênio Raul de Almeida Pimentel; CORRêA, Paula Yume Sato Serzedello- PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas(2011) SANTOS, Daniela C. C.; ZAPHIROPOULOS, Peter G.; NETO, Cyro F.; PIMENTEL, Eugenio R. A.; SANCHES JR., Jose A.; RUIZ, Itamar R. G.Background Basal cell carcinomas (BCCs) are the most frequent human cancer that results from malignant transformation of basal cells in the epidermis. Gorlin syndrome is a rare inherited autosomal dominant disease that predisposes with multiple BCCs and other birth defects. Both sporadic and inherited BCCs are associated with mutations in the tumor suppressor gene PTCH1, but there is still uncertainty on the role of its homolog PTCH2. Objectives To search for mutations and genomic instability in sporadic and inherited BCCs. Methods DNA obtained from leukocytes and tumor cells was amplified by polymerase chain reaction regarding five exons of PTCH1 and PTCH2 and neighboring microsatellites. Exons were sequenced and compared with the GenBank database. Results Only D9S180, of six microsatellites, showed loss of heterozygosity in three BCCs (two sporadic and one inherited). One sporadic BCC presented the mutation g. 2885G>C in exon 17 of PTCH1, which predicts the substitution p.R962T in an external domain of the protein. In addition, the leukocytes and tumor cells of one patient with Gorlin syndrome showed the mutation g. 2839T>G in the same exon and gene, which predicts a p.E947stop and truncated protein. All control and tumor samples presented IVS9 + 217T in intron 9 of PTCH1. Conclusion Mutations found in the PTCH1 gene and neighboring repetitive sequences may have contributed to the development of the studied BCCs.