Browsing by Author "Costa, P."
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- APOE isoforms in focal epilepsies: an association study in a Portuguese populationPublication . Martins da Silva, A.; Leal, B.; Chaves, J.; Carvalho, C.; Bettencourt, A.; Branco, R.C.; Ferreira, J.; Costa, P.; Martins da Silva, B.Purpose: Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immuno-modulatory function, influences neurotransmission and is involved in repairing damaged neurons. ApoE e4 allele is an isoform of ApoE with altered protein function previously associated with refractoriness and early onset epilepsy. Our purpose was to investigate if apoE isoforms are risk factors for partial epilepsy and to correlate genotypes with anti-epileptic drug response. Methods: A cohort of 230 epileptic patients with partial epilepsies from the outpatient clinic at HSA-CHP [109F, 121M; mean age = 44 13 years, age of onset = 15 13 years; 168 patients with Drug Refractory Epilepsy (DRE)] was compared with a cohort of 301 healthy individuals (HI) in a case control study. ApoE isoforms were genotype by RFLP-PCR methodology. Results: ApoE e4 allele frequency was higher in epileptic group when compared with HI (10.6% vs. 7.6%, p = n.s., OR = 1.44, 95% CI: 0.945–2.20). Anti-epileptic Drug response was not influenced by apoE isoforms. Conclusion: Our results suggest that ApoE e4 may be a risk factor for partial epilepsy development. ApoE e4 is associated with CNS network instability, with lower protection against oxidative and inflammatory cascade. These could influence neuronal growth and recovery leading to a chronic vicious cycle of damage and neuronal loss contributing to seizures development. These observations should be confirmed in a larger cohort.
- No ocular involvement in familial amyloidotic polyneuropathy ATTR V30M domino liver recipientsPublication . Melo Beirão, J.; Matos, E.; Beirão, I.; Costa, P.; Torres, P.In many transplantation centers domino liver transplantation is an established procedure, increasing the number of available liver grafts. Increasingly, grafts from familial amyloidotic polyneuropathy (FAP) patients are used. Ocular involvement is a well known manifestation of FAP, and can be vision-threatening. The aim of this study was to evaluate the risk of development of familial amyloidotic polyneuropathy ocular manifestations in domino liver recipients. Forty-four cirrhotic patients submitted to liver transplantation were studied, with an average of 6 years of follow up after the procedure. Twenty two patients had received a liver from a FAP donor (Group 1) and 22 had received a liver from a non-FAP cadaveric donor (Group 2). Both groups were similar for mean age and gender. Routine ophthalmological examinations with particular attention to amyloid deposition in the anterior segment and vitreous, peripheral retina state, lacrimal functions tests (Schirmer and tear break-up time) and pupillometry (dynamic and static) were performed. No statistically significant differences were observed in all studied ophthalmic parameters between the two groups. No FAP related ophthalmic manifestations were detected after 6 years of domino liver transplantation, but further prospective regular ophthalmological examinations are necessary to detect the eventual development of late ocular manifestations.