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Évora, Portugal

Caseiro A.L.,Hospital EPE Espirito Santo | Regalo A.,Hospital EPE Espirito Santo | Pereira E.,Hospital EPE Espirito Santo | Esteves T.,Hospital EPE Espirito Santo | And 2 more authors.
Reproductive BioMedicine Online | Year: 2015

Currently, some infertility treatment centres provide sperm karyotype analysis, although the impact of sperm chromosomal abnormalities on fertility is not yet fully understood. Several studies using fluorescence in-situ hybridization (FISH) to analyse sperm chromosomal constitution discovered that the incidence of aneuploidy is increased in individuals with a history of repeated abortion or implantation failure and is even higher in cases of oligoasthenoteratozoospermia (OAT), abnormal somatic karyotype or in spermatozoa retrieved directly from the testis or epididymis, showing that the application of FISH in these cases may be of some benefit for improving the reproductive outcome. This article presents the results of clinical trials of FISH analysis on spermatozoa, the medical indications for performing this examination, its results in infertile patients and the advantages when performing genetic counselling prior to treatment. Also discussed is the possibility of applying the latest techniques of genetic analysis in these cases and the potential benefits for improving the prognosis of male infertility. © 2015 Reproductive Healthcare Ltd. Source

Pimentel-Santos F.M.,New University of Lisbon | Pimentel-Santos F.M.,University of Tras os Montes e Alto Douro | Pimentel-Santos F.M.,Centro Hospitalar Lisbon Ocidental CHLO | Pimentel-Santos F.M.,Centro Hospitalar Of Lisbon Ocidental | And 56 more authors.
Journal of Rheumatology | Year: 2012

Objective. Unconfirmed reports describe association of ankylosing spondylitis (AS) with several candidate genes including ANKH. Cellular export of inorganic pyrophosphate is regulated by the ANK protein, and mutant mice (ank/ank), which have a premature stop codon in the 3′ end of the ank gene, develop severe ankylosis. We tested the association between single-nucleotide polymorphisms (SNP) in these genes and susceptibility to AS in a population of patients with AS. We investigated the role of these genes in terms of functional (BASFI) and metrological (BASMI) measures, and the association with radiological severity (mSASSS). Methods. Our study was conducted on 355 patients with AS and 95 ethnically matched healthy controls. AS was defined according to the modified New York criteria. Four SNP in ANKH (rs27356, rs26307, rs25957, and rs28006) were genotyped. Association analysis was performed using Cochrane-Armitage and linear regression tests for dichotomous and quantitative variables. Analyses of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), BASFI, and mSASSS were controlled for sex and disease duration. Results. None of the 4 markers showed significant single-locus disease associations (p > 0.05), suggesting that ANKH was not a major determinant of AS susceptibility in our population. No association was observed between these SNP and age at symptom onset, BASDAI, BASFI, BASMI, or mSASSS. Conclusion. These results confirm data in white Europeans that ANKH is probably not a major determinant of susceptibility to AS. ANKH polymorphisms do not markedly influence AS disease severity, as measured by BASMI and mSASSS. The Journal of Rheumatology Copyright © 2012. All rights reserved. Source

Bento A.,Hospital Espirito Santo EPE | Vasconcelos J.,Hospital Espirito Santo EPE | Aguiar C.,Hospital de Santa Cruz | Caeiro A.,Hospital Espirito Santo EPE | Jara A.,Hospital Espirito Santo EPE
Revista Portuguesa de Cardiologia | Year: 2010

The development of troponins dramatically changed the diagnosis of cardiac injury. Cardiac troponins are the most sensitive and specific biochemical markers of myocardial damage. In 2000. it was elaborated the new definition of miocardial infarction that reflected the importance of that biomarker. The rationale of including troponin assay in the diagnosis pathway was based on the assumption that myocardial necrosis, regardless of its magnitude, should be characterized as myocardial infarction. However, if the patient's clinical picture do no match an elevated troponin result we shoud suspect a false positive value caused by analytical interferences. This article ilustrates, by presentation of a case report, that in spite of its importance in the diagnosis of myocardial infarction, troponin positivity should't be the sole criterion for establishing such a diagnosis. Source

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