Browsing by Issue Date, starting with "2020-09-30"
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- Cytokine gene polymorphisms in Pigeon Breeder's Disease expressionPublication . Freitas, Cláudia; Lima, Bruno; Martins, Natália; Melo, Natália; Mota, Patrícia; Novais-Bastos, Hélder; Alves, Helena; Sokhatska, Oksana; Delgado, Luís; Morais, AntónioBackground: Exaggerated immunological response to repeated inhalation of organic or chemical dusts may lead to Hypersensitivity Pneumonitis among sensitized individuals. Only a few exposed individuals became ill and disease expression pattern is highly variable which suggest that genetic factors may play a role. Aim: To investigate interferon (IFN)-γ, tumour necrosis factor (TNF)-α, interleukin (IL)-6, transforming growth factor (TGF)-ß, and IL-10 gene polymorphisms in a cohort of pigeon breeder's disease (PBD) patients in comparison with exposed but healthy controls and the association with different patterns of disease. Methods: We evaluated 40 PBD patients and 70 exposed controls. IFN-γ, TNF-α, IL-6, TGF-ß, and IL-10 polymorphisms were determined by polymerase chain reaction-sequence specific primer amplification. Results: Polymorphism analysis of IFN-γ, TNF-α, IL-6, TGF-ß, and IL-10 genotypes and allele frequencies showed no differences between patients and controls. IFN-γ T/T genotype frequency was increased among patients with chronic presentation (RR=2.33, p=0.047) compared with those with acute/subacute presentation. Also, chronic presenting patients had an increased frequency of IFN-γ T allele (50% vs 22.5%, RR=1.76, p=0.011). No differences were found in TNF-α, IL-6, TGF-ß, and IL-10 genotypes neither allelic frequencies between both groups of patients. IL-6 C/C genotype was more frequent in patients who showed chronic evolution (RR=2.54, p=0.017), when comparing with patients with disease resolution. Conclusion: IFN-γ T/T and the IL-6 C/C genotypes seem to play a role in HP expression due to avian exposure, as their frequencies are increased in chronic presentations or in those with chronic evolution one year after the initial diagnosis, respectively. (Sarcoidosis Vasc Diffuse Lung Dis 2020; 37 (3): e2020004).
- Mitogenome diversity of Aedes (Stegomyia) albopictus: Detection of multiple introduction events in PortugalPublication . Zé-Zé, Líbia; Borges, Vítor; Osório, Hugo Costa; Machado, Jorge; Gomes, João Paulo; Alves, Maria JoãoAedes albopictus, along with Ae. aegypti, are key arbovirus vectors that have been expanding their geographic range over the last decades. In 2017, Ae. albopictus was detected for the first time at two distinct locations in Portugal. In order to understand how the Ae. albopictus populations recently introduced in Portugal are genetically related and which is their likely route of invasion, we performed an integrative cytochrome C oxidase I gene (COI)- and mitogenome-based phylogeographic analysis of mosquitoes samples collected in Portugal in 2017 and 2018 in the context of the global Ae. albopictus diversity. COI-based analysis (31 partial sequences obtained from 83 mosquitoes) revealed five haplotypes (1 to 5), with haplotype 1 (which is widely distributed in temperate areas worldwide) being detected in both locations. Haplotypes 2 and 3 were exclusively found in Southern region (Algarve), while haplotype 4 and 5 were only detected in the North of Portugal (Penafiel, Oporto region). Subsequent high discriminatory analyses based on Ae. albopictus mitogenome (17 novel sequences) not only confirmed a high degree of genetic variability within and between populations at both geographic locations (compatible with the Ae. albopictus mosquito populations circulating in Europe), but also revealed two mitogenome mutational signatures not previously reported at worldwide level. While our results generally sustain the occurrence of multiple introduction events, fine mitogenome sequence inspection further indicates a possible Ae. albopictus migration within the country, from the Northern introduction locality to the Southern region. In summary, the observed scenario of high Ae. albopictus genetic diversity in Portugal, together with the detection of mosquitoes in successive years since 2017 in Algarve and Penafiel, points that both Ae. albopictus populations seem to be already locally established, as its presence has been reported for three consecutive years, raising the public health awareness for future mosquito-borne diseases outbreaks.
- Translational regulation by upstream open reading frames and its relevance to human genetic diseasePublication . Fernandes, Rafael; Romão, LuísaUpstream open reading frames (uORFs) are cis‐acting elements, located before or overlapped with the main coding ORF (mORF), that regulate cap‐dependent translation efficiency in a transcript‐specific manner. More than half of the human transcripts bear at least one uORF. In addition, it has been recently revealed that many of these uORFs initiate at non‐AUG codons, which significantly increases the complexity and diversity of the human translatome. These regulons are considered repressors of downstream translation but, in some biological contexts, they induce mORF expression. There are several the mechanisms by which AUG and non‐AUG uORFs regulate gene expression, allowing the cell to control transcript‐specific translation according to its needs. Also, we describe several examples of uORF genetic variants associated with human genetic diseases. Studying these cases and understanding the resultant abnormal mechanisms of uORF‐mediated translational control is of extreme importance for the development of new therapeutic strategies.
- Trends in breastfeeding rates in Portugal: results from five National Health Interview SurveysPublication . Kislaya, Irina; Braz, Paula; Matias Dias, Carlos; Loureiro, IsabelBackground: The World Health Organization advice breast milk as the perfect food for the newborn starting immediately after birth and exclusively up to at least 6 months of age. However, there are considerable differences in breastfeeding rates between countries related to their policies on breastfeeding promotion and duration of maternity leave. This study aims to describe changes in breastfeeding rates over time in Portugal as a way to inform social policies and public health initiatives on breastfeeding. Methods: To examine the breastfeeding rates evolution we used data from five National Health Surveys. Breastfeeding was assessed based on information provided by the mothers of children born between 1982 and 2014. Birth cohorts were grouped in block of 3-year period. We estimated 3 and 6-months exclusive breastfeeding rates and 95% confidence intervals. Trends in breastfeeding rates for each outcome were assessed by linear regression weighting each cohort-specific estimate by the inverse of variance in the logit scale. Results: We analyzed data on 9172 children; sample size by birth cohort ranged from 213 in 2012/14 to 1651 in 1994/96. Proportion of infants ever breastfed during the study period varied between 71.7% and 86.7%. The 3 months exclusive breastfeeding rate increased by 9.5% (CI95%:7.8-11.3%) per 3-year period, from 41.3% (CI95%:38.7-43.9%) in 1982/84 to 62.4% (CI95%:55.7-68.7%) in 2012/14. The 6 months exclusive breastfeeding rate raised up from 23.5% (CI 95%:21.2-25.7%) in 1982/84 to 31.9% (CI95%:26.0-38.5%) in 2012/14, corresponding to 5.6% increase per 3-year period. Conclusions: This study shows a positive evolution in breastfeeding practices, with an increased in the prevalence of women who reported exclusively breastfeeding until the 3rd and 6th month after birth. Our results may be explained by changes in maternity leave duration. Furthermore, the results emphasize the need for further investment in breastfeeding support services and professionals´ training.
- Neural tube defects: how many cases could have been prevented in Portugal?Publication . Braz, Paula; Machado, Ausenda; Kislaya, Irina; Dias, Carlos MatiasNeural tube defects (NTD) occurs when the neural tube does not close properly until the 28th day of foetal life. About 70% of NTD can be prevent if women start folic acid (FA) before pregnancy and until the end of 1st trimester. Portugal has this primary prevention since 1998, however the secondary prevention of NTD with TOPFA is still high (80%). The aim of this study is to describe when FA intake was started and estimate the number of cases that would have be prevented if FA intake started before pregnancy as recommended. A cross-sectional study using data from the National Registry of Congenital Anomalies between 2004-2017 was performed. The temporal evolution of the beginning of FA intake was analysed with Cochran-Armitage test for proportions. The proportion of preventable cases was estimated considering the 70% prevention fraction and the number of NTD cases registered in RENAC that occurred in pregnancies without the recommended FA supplementation. On average, 13.8% of all women started FA before pregnancy, 46.2% during 1st trimester and 6.1% did not take folic acid. A statistically significant trend (p < 0.001) was observed in the group that started before pregnancy with increase from 6.8% in 2004 to 17.9% in 2017. The prevalence of NTD was 4.2 cases / 10,000 births, ranging from 2 cases / 10,000 births (2007) to 7 cases / 10,000 births (2014). Between women who had a pregnancy with NTD, 16.8% started FA before pregnancy, 42.2% in the 1st trimester and 9.7% did not take the supplement. If all women had started FA before pregnancy, an estimated 202 NTD cases could have been prevented. In Portugal, the proportion of women who adhere to this measure is very low, similarly to other European countries, compromising the primary prevention of NTD. Perhaps due to the high percentage of TOPFA, the idea that this anomalies continue to affect our children has been lost. Primary prevention of NTDs should be encouraged with measures that promote FA supplementation. Key messages Primary prevention of NTD is possible. Proportion of women who adhere to primary prevention is low.