Browsing by Author "Matos, L."
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- Avaliação de necessidades parentais em unidades de cuidados intensivos neonataisPublication . Alves, E.; Matos, L.; Grande, C.; Cardoso, V.; Silva, S.
- Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense TherapyPublication . Matos, L.; Duarte, A.; Ribeiro, D.; Chaves, J.; Amaral, O.; Alves, S.Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oligonucleotide therapeutic strategy could correct the defect in patient cells. A specific locked nucleic acid (LNA) antisense oligonucleotide was designed to block a cryptic 5'ss in intron 1. Overall, this approach allowed the restoration of the normal splicing pattern. Furthermore, the recovery was both sequence and dose-specific. In general, this work provides a proof of principle on the correction of a CSTB gene defect causing ULD through a mutation-specific antisense therapy. It adds evidence to the feasibility of this approach, joining the many studies that are paving the way for translating antisense technology into the clinical practice. The insights detailed herein make mutation-based therapy a clear candidate for personalized treatment of ULD patients, encouraging similar investigations into other genetic diseases.
- Reference ranges for uterine artery pulsatility index during the menstrual cycle: a cross-sectional studyPublication . Guedes-Martins, L.; Gaio, R.; Saraiva, J.; Cerdeira, S.; Matos, L.; Silva, E.; Macedo, F.; Almeida, H.Cyclic endometrial neoangiogenesis contributes to changes in local vascular patterns and is amenable to non-invasive assessment with Doppler sonography. We hypothesize that the uterine artery (UtA) impedance, measured by its pulsatility index (PI), exhibits a regular pattern during the normal menstrual cycle. Therefore, the main study objective was to derive normative new day-cycle-based reference ranges for the UtA-PI during the entire cycle from days 1 to 34 according to the isolated time effect and potential confounders such as age and parity.