Browsing by Author "Pacheco, A"
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- Carcinomas Espinocelulares Cutâneos em Doente com Epidermólise Bolhosa Distrófica RecessivaPublication . Medeiros, S; Amaro, C; Oliveira, J; Catorze, G; Miguel, J; Coutinho, J; Vieira, R; Pacheco, A; Afonso, A; Cardoso, JAs epidermólises bolhosas (EB) hereditárias são um grupo heterogéneo de doenças bolhosas geneticamente determinadas. Caracterizam-se clinicamente por fragilidade mucocutânea que se traduz pela formação de 1,2 bolhas após traumatismos mínimos. Nas formas distróficas, principalmente na forma recessiva, as lesões cutâneas evoluem de forma crónica levando à formação de múltiplas cicatrizes atróficas e estão associadas a uma maior 2 frequência de carcinomas espinocelulares (CEC), em particular nos casos de longa evolução. Os autores descrevem o caso de um doente, com 42 anos de idade, com epidermólise bolhosa distrófica recessiva - variante Hallopeau-Siemens (EBDR-HS), que desenvolveu dois carcinomas espinocelulares da pele, tendo um deles metastizado para os gânglios loco-regionais, em breve período de tempo.
- Current Trends and Perceptions of the Portuguese Gynecology Experts on Hormonal Intrauterine Contraception: The DIOGIN StudyPublication . Brito, M; Costa, AR; Pacheco, A; Rebelo, C; Castro, MG; Martins, I; Palma, FOverview and Aims: Intrauterine systems (IUS) are one of the most effective forms of long acting reversible birth control, with low failure rates and high continuity and satisfaction rates. Still, they account for a small proportion of contraception use, which may be due to several myths and misperceptions. With this study, we aimed to assess Portuguese experts’ perceptions on potential benefits and fears that may limit women’s contraception choice and to identify current trends in clinical practice. Methods and Population: We performed an observational, descriptive and analytical study in which gynecologists/obstetricians were invited to answer an anonymous questionnaire by call or email made of multiple-choice questions on IUS use. Results: A total of 482 Portuguese Gynecologists answered the survey, of which 97.1% revealed that the insertion of IUS is a common procedure in their current clinical practice. More than 95% considered the insertion of IUS an easy procedure and a safe contraceptive method. Cost-efficacy and the fact that this method doesn’t rely on womens action to be effective were the top benefits for IUS users, perceived by the physicians. On the other hand, concern about having a foreign object inside the body and fear of insertion pain were perceived by the physicians as the top barriers to IUS use. Female gynecologists perceived a higher degree of pain associated with IUS insertion (p=0.021). Overall, gynecology experts’ opinions were conservative regarding IUS recommendations to women. Conclusions: The results of this study provide a general insight towards Portuguese gynecologists’ perceptions, opinions and attitudes on the use of IUS. Most of the experts consider IUS a safe contraception method but, on the other hand, there is still concern about its use in particular female conditions which may in part contribute to the low rate of IUS use in Portuguese women.
- Estetrol/Drospirenone – an Advance on CHC with Ethinyl Estradiol?Publication . Palma, F; Pacheco, A; Costa, AR; Rebelo, C; Bombas, TA contraceção hormonal combinada (CHC) é um dos métodos contracetivos mais utilizados em todo o mundo. As questões relacionadas com a segurança, particularmente o risco tromboembólico (TE), estão em permanente avaliação. A combinação estetrol/ drospirenona (E4/DRSP) é um contracetivo oral combinado (COC) eficaz, com um perfil de hemorragia estável e regular e efeito favorável na pele e no controlo do peso. Tem menor impacto nos fatores pró-trombóticos que as combinações com etinilestradiol (EE), o que configura um perfil de maior segurança, que importa confirmar em estudos de base populacional.
- Immune and Spermatogenesis-Related Loci are Involved in the Development of Extreme Patterns of Male InfertilityPublication . Cerván-Martín, M; Tüttelmann, F; Lopes, AM; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos-Ribeiro, S; Castilla, JA; Carmen Gonzalvo, M; Clavero, A; Maldonado, V; Vicente, FJ; González-Muñoz, S; Guzmán-Jiménez, A; Burgos, M; Jiménez, R; Pacheco, A; González, C; Gómez, S; Amorós, D; Aguilar, J; Quintana, F; Calhaz-Jorge, C; Aguiar, A; Nunes, J; Sousa, S; Pereira, I; Pinto, MG; Correia, S; Sánchez-Curbelo, J; López-Rodrigo, O; Martín, J; Pereira-Caetano, I; Marques, PI; Carvalho, F; Barros, A; Gromoll, J; Bassas, L; Seixas, S; Gonçalves, J; Larriba, S; Kliesch, S; Palomino-Morales, RJ; Carmona, FDWe conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRβ1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.