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Browsing by Author "Pinto, MG"

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  • Immune and Spermatogenesis-Related Loci are Involved in the Development of Extreme Patterns of Male Infertility
    Publication . 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, FD
    We 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.
    2022Journal article Open access Show more
  • Padronização do Uso de Imunoglobulina Anti-D na Profilaxia da Isoimunização Rh
    Publication . Vicente, L; Pinto, MG; Serrano, MF; Soares, C; Alegria, A
    A isoimunização RhD durante a gravidez tem graves repercussões fetais e neonatais. Apesar da imunoprofilaxia com imunoglobulina anti-D ter diminuído drasticamente a mortalidade e morbilidade perinatais, continuam a existir casos de isoimunização que se devem a uma administração inadequada. No âmbito de um projecto de padronização da administração de imunoglobulina anti-D, foram levados a cabo um inquérito aos obstetras da MAC e uma análise retrospectiva de processos de mulheres RhD negativas. Neste artigo são apresentados os resultados destes dois trabalhos. É também apresentada uma proposta de protocolo de imunoprofilaxia.
    2000Journal article Open access Show more