5 documents found, page 1 of 1
Immune and Spermatogenesis-Related Loci are Involved in the Development of Extr...
Cerván-Martín, M; Tüttelmann, F; Lopes, AM; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos-Ribeiro, S; Castilla, JAWe 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, name...
Validation of the Portuguese Version of EHP-30 (The Endometriosis Health Profil...
Nogueira-Silva, C; Costa, P; Martins, C; Barata, S; Alho, C; Calhaz-Jorge, C; Osório, FINTRODUCTION: Endometriosis Health Profile Questionnaire-30 is currently the most used questionnaire for quality of life measurement in women with endometriosis. The aim of this study is to evaluate the psychometric properties and to validate the Portuguese Endometriosis Health Profile Questionnaire-30 version. MATERIAL AND METHODS: A sequential sample of 152 patients with endometriosis, followed in a Portugal ...
Langerhans cell histiocytosis and breast.
Rodrigues, Cátia; Santos, Paulo; Simões, Dora; Valério, Maria Odete; Calhaz-Jorge, CLangerhans cell histiocytosis (LCH) is a rare systemic disorder, with a diversified presentation and natural history. It can compromise any organ. We report a case of a 32-year-old woman who came to our clinic with an asymptomatic palpable breast mass. She underwent excisional biopsy. Immunohistochemical and pathological evaluation revealed Langerhans cell histiocytosis. No multisystem involvement was found.; L...
Characterizing partial AZFc deletions of the Y chromosome with amplicon-specifi...
Navarro-Costa, P; Pereira, L; Alves, C; Gusmão, L; Proença, C; Marques-Vidal, P; Rocha, T; Correia, SC; Jorge, S; Neves, A; Soares, AP; Nunes, JBACKGROUND: The AZFc region of the human Y chromosome is a highly recombinogenic locus containing multi-copy male fertility genes located in repeated DNA blocks (amplicons). These AZFc gene families exhibit slight sequence variations between copies which are considered to have functional relevance. Yet, partial AZFc deletions yield phenotypes ranging from normospermia to azoospermia, thwarting definite conclusi...
The effect of the woman's age, the rate of cleavage and embryo quality on obtai...
Cordeiro, I; Calhaz-Jorge, C; Barata, M; Leal, F; Proença, H; Coelho, A MMultiple factors influence the probability of obtaining a pregnancy through in vitro fertilization (IVF) and embryo transfer (ET). This retrospective study was designed to assess their importance in order to improve prognostic ability and treatment success. 341 consecutive embryo transfer cycles using the same ovarian stimulation protocol were considered and divided in two main groups: 92 cycles in which a clin...