Browsing by Author "Gomes, S."
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- Human case of West Nile neuroinvasive disease in Portugal, summer 2015Publication . Zé-Zé, Líbia; Proença, P.; Osório, H.C.; Gomes, S.; Luz, T.; Parreira, P.; Fevereiro, M.; Alves, M.J.A case of West Nile virus (WNV) infection was reported in the Algarve region, Portugal, in the first week of September 2015. WNV is known to circulate in Portugal, with occasional reports in horses and birds (2004 to 2011) and very sporadically human cases (in 2004 and in 2010). Here we present the clinical and laboratory aspects related to the first human case of West Nile neuroinvasive disease reported in Portugal.
- Prenatal diagnosis of mosaic ring chromosome 16 - a rare event with uncertain prognosisPublication . Brito, F.; M. Silv, M.; Alves, C.; Ferreira, C.; Serafim, S.; Simão, L.; Marques, B.; Pedro, S.; Tarelho, A.; Furtado, J.; Lopes, P.; Silva, N.; Viegas, M.; Fernandes, A.; Teixeira, F.; Gomes, S.; Correia, H.Ring chromosomes are rare cytogenetic findings (prenatal frequency ~ 0.0075%) often associated with an abnormal phenotype, depending of the chromosomal origin, genetic content and the presence of a mosaic. Supernumerary ring chromosome 16 [r(16)] is rarely observed and mosaicism makes the genotype/phenotype correlation difficult. We report a de novo mosaic r(16) detected after prenatal diagnosis in a woman referred for advanced maternal age. Multiplex ligation-dependent probe amplification (MLPA) for aneuploidy testing of chromosomes 13, 18, 21 and X was normal. Karyotype was 47,XX,+r[10]/46,XX[15]. Chromosomal microarray analysis (CMA) on DNA obtained from long-term cultured amniocytes did not detect any alterations. MLPA with a pericentromeric probe kit on an uncultured sample showed a chromosome 16 gain, encompassing 16p11.2 and 16q11.2 regions, including TGFB1I1, AHSP, VPS35 and ORC6 genes, leading to partial characterization of the r(16). Although no phenotype has been correlated with overexpression of these genes, the 16p11.2 region is associated with neurodevelopmental disorders. Nevertheless individuals with microduplication of 16p11.2 and normal development have been described. The lack of a precise definition of genetic content of the r(16) and its mosaic form leads to uncertain prognosis of clinical outcome.
- REVIVE, a surveillance program on vectors and vector-borne pathogens in Portugal - four year experience on ticksPublication . Santos, A.S.; Santos Silva, M.; Lopes de Carvalho, I.; Milhano, N.; Chaínho, L.; Luz, T.; Parreira, P.; Gomes, S.; De Sousa, R.; Núncio, M.S.; REVIVE WorkgrupREVIVE is a national wide surveillance program on vector and vector-borne agents implement and coordinate by the National Institute of Health (CEVDI/INSA) in collaboration with other institutions of the Health Ministry. The programme started in 2008 with the surveillance of mosquitoes and later in 2011 was extended to ticks. The main goals of this project are to collect and identify vectors, updating our knowledge in the distribution, hostassociations, seasonality and abundance of the Portuguese species. Additionally this project contributes for monitoring the introduction of exotic vector species. This work regards the 4-year REVIVE studies on ticks and Borrelia/Rickettsia surveillance, among other tick-borne agents, discussing the established circuits, obtained results and practical interventions. Over 29.000 ticks were collected on hosts or by flagging vegetation from 168 (60.4%) municipalities of mainland Portugal. Collection in humans reached the 583 specimens. In total, 13 autochthonous tick species were identified, including Dermacentor marginatus; D. reticulatus; Haemaphysalis punctata; Hyalomma lusitanicum; H. marginatum; Ixodes canisuga; I. hexagonus; I. ricinus; I. ventalloi; Rhipicephalus annulatus; R. bursa; R. pusillus; R. sanguineus. Of note is the identification of an exotic species, Amblyomma sp., attached to a Portuguese emigrant arriving from USA. The top three species collected during this surveillance program were R. sanguineus (69%), followed by R. pusillus (16.4%) and H. marginatum (9.7%). However regarding antropofilic behaviour, from the 11 species found in humans the most prevalent were I. ricinus (35%), followed by R. sanguineus (34%), and H. marginatum (14%). The abundance, distribution, host association and other relevant patterns are compared with previous existing records. Regarding the tick-borne agents, all ticks collected from humans and about 10% of the questing/host-attached ticks were tested for Borrelia and Rickettsia spp., among other agents. Ten bacteria were identified so far in single or multiple infection, including Borrelia afzelii, B. garinii, B. lusitaniae, Rickettsia aeschlimannii, R. conorii, R. helvetica, R. massiliae, R. monacensis, R. raoulti, and R. slovaca. The importance of including other tick-borne agents in routine screening is also discussed. The presented data reinforces the importance of the REVIVE. The program has contributed to call attention to tick-borne diseases not only among healthcare providers but also in the populations. The workflow established, has also enabled timely screeningof ticks removed from humans, animals or in a given environment, allowing the implementation of informed prevention/control strategies and directly contributing to improve Public Health in Portugal.
- The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE genePublication . Silva, B.; Pita, L.; Gomes, S.; Gonçalves, J.; Faustino, P.Hereditary hemochromatosis is an autosomal recessive disorder characterized by severe iron overload. It is usually associated with homozygosity for the HFE gene mutation c.845G > A; p.C282Y. However, in some cases, another HFE mutation (c.187C > G; p.H63D) seems to be associated with the disease. Its penetrance is very low, suggesting the possibility of other iron genetic modulators being involved. In this work, we have screened for HAMP promoter polymorphisms in 409 individuals presenting normal or increased serum ferritin levels together with normal or H63D-mutated HFE genotypes. Our results show that the hepcidin gene promoter TG haplotype, originated by linkage of the nc.-1010C > T and nc.-582A > G polymorphisms, is more frequent in the HFE_H63D individuals presenting serum ferritin levels higher than 300 μg/L than in those presenting the HFE_H63D mutation but with normal serum ferritin levels or in the normal control group.Moreover, it was observed that the TG haplotype was associated to increased serum ferritin levels in the overall pool of HFE_H63D individuals. Thus, our data suggest that screening for these polymorphisms could be of interest in order to explain the phenotype. However, this genetic condition seems to have no clinical significance.