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- Barómetro COVID-19 e Paralisia Cerebral: resultados obtidos nos primeiros 18 meses da pandemia da COVID-19Publication . Folha, Teresa; Virella, Daniel; Alvarelhão, Joaquim; Cadete, Ana; Santos, Ana João; Antunes, Liliana; Calado, Eulália; Matias Dias, CarlosEm dezembro de 2019 foi detetado um novo coronavírus, denominado SARS-CoV-2, responsável pela doença COVID-19, e em março de 2020 a Organização Mundial de Saúde declarou a situação como pandémica. Esta situação tem vindo a trazer grandes alterações em todo o mundo e tem tido maior impacto no dia-a-dia das pessoas com deficiência, nomeadamente das pessoas com paralisia cerebral, devido a potenciais interrupções ou falhas nos serviços dos quais dependem, bem como um risco acrescido de contrair a doença e de desenvolver uma forma grave desta infeção. O Projeto “Barómetro COVID-19 e Paralisia Cerebral” tem vindo a monitorizar os efeitos da pandemia da COVID-19 no dia-a-dia das pessoas que vivem com paralisia cerebral em Portugal. Trata-se de um projeto operacionalizado pelo Programa de Vigilância Nacional da Paralisia Cerebral e resulta da colaboração entre a Federação das Associações Portuguesas de Paralisia Cerebral, o Instituto Nacional de Saúde Doutor Ricardo Jorge e a Escola Nacional de Saúde Pública, adaptando o “Barómetro COVID-19” à população que lida com a paralisia cerebral: pessoas com paralisia cerebral, suas famílias e todos aqueles que com eles trabalham. O presente relatório apresenta uma síntese dos dados recolhidos pelo Projeto “Barómetro COVID19 e Paralisia Cerebral”, obtidos desde o início da pandemia, através de um formulário online. Visa obter informação relativa a atitudes, comportamentos, necessidades, apoios e repercussão na vida das pessoas que vivem com paralisia cerebral, tendo em conta um conjunto de vivências do seu dia-a-dia.
- Assessment of the mercury-selenium antagonism in rainbow trout fishPublication . Ribeiro, M.; Zephyr, N.; Silva, J.A.L.; Danion, M.; Guérin, T.; Castanheira, I.; Leufroy, A.; Jitaru, P.This study aims at the assessment of mercury (Hg)-selenium (Se) antagonism in fish. For this purpose, rainbow trout fish (Oncorhynchus mykiss) were exposed to methylmercury (MeHg) under controlled conditions, in the presence or absence of selenomethionine (SeMet) using an in-house prepared diet (enriched with MeHg and SeMet at 0.2 μg/g and 5.0 μg/g, respectively). The total duration of the exposure study was 3 months. Fish was sampled and analysed for total Se (SeT) and total mercury (HgT) content after 1, 2 and 3 months of exposure. Six feeding protocols were compared, depending on the exposure type: (i) no MeHg nor SeMet exposure (control group); (ii) exposure to SeMet solely; (iii) exposure to MeHg solely; (iv) exposure to both MeHg and SeMet; (v) exposure first to MeHg during 1 month and then to SeMet during 2 months and (vi), exposure to SeMet during 1 month and then to MeHg for 2 months. The levels of SeT and HgT in the fish (control and supplemented with MeHg/SeMet) were measured by inductively coupled plasma-mass spectrometry (ICPMS). Steadily (linear) bioaccumulation of MeHg in the fish muscle occurred when the fish were exposed individually to this species during the period. The bioaccumulation of MeHg is diminished when the fish are firstly exposed to SeMet and then to MeHg, hence indicating the MeHg detoxification due to SeMet supplementation.
- Effects of stress exposure in captivity on physiology and infection in avian hosts: no evidence of increased Borrelia burgdorferi s.l. infectivity to vector ticksPublication . Norte, A. C.; Araújo, P. M.; Augusto, L.; Guímaro, H.; Santos, S.; Lopes, R. J.; Núncio, M. S.; Ramos, J. A.; Lopes de Carvalho, I.Exposure to environmental stressors, an increasingly recurring event in natural communities due to anthropogenic-induced environmental change, profoundly impacts disease emergence and spread. One mechanism through which this occurs is through stress-induced immunosuppression increasing disease susceptibility, prevalence, intensity and reactivation in hosts. We experimentally evaluated how exposure to stressors affected both the physiology of avian hosts and the prevalence of the zoonotic bacteria Borrelia burgdorferi sensu lato (s.l.), in two model species-the blackbird Turdus merula and the robin Erithacus rubecula captured in the wild, using xenodiagnoses and analysis of skin biopsies and blood. Although exposure to stressors in captivity induced physiological stress in birds (increased the number of circulating heterophils), there was no evidence of increased infectivity to xenodiagnostic ticks. However, Borrelia detection in the blood for both experimental groups of blackbirds was higher by the end of the captivity period. The infectivity and efficiency of transmission were higher for blackbirds than robins. When comparing different methodologies to determine infection status, xenodiagnosis was a more sensitive method than skin biopsies and blood samples, which could be attributed to mild levels of infection in these avian hosts and/or dynamics and timing of Borrelia infection relapses and redistribution in tissues.
- Envelhecimento e Saúde: caracterização da saúde da população idosa em PortugalPublication . Santos, Ana João; Braz, Paula; Gomez, Verónica; Folha, Teresa; Alves, Tatiana; Matias Dias, CarlosO presente documento apresenta uma integração e síntese de dados sobre a saúde da população idosa portuguesa, obtidos através de fontes estatais nacionais, fontes europeias, inquéritos de saúde nacionais e estudos de temas específicos. Apresentam-se os dados atualizados até 2021, variando o período temporal dos diferentes indicadores, de acordo com as publicações disponíveis até dezembro de 2021, para cada uma das temáticas apresentadas. Partindo-se da definição multidimensional de saúde proposta pela Organização Mundial da Saúde em 1946, o relatório apresenta, para além da caracterização do estado de saúde, indicadores de várias áreas que influenciam a saúde e a qualidade de vida desta população, nomeadamente ao nível económico, social e individual. Está dividido em cinco capítulos: 1. Demografia e sociologia do envelhecimento; 2. Desafios do envelhecimento; 3. Processos de envelhecimento e saúde: condições associadas; 4. Estado de saúde e 5. Serviços e cuidados de saúde.
- Urinary cotinine assessment of maternal smoking and environmental tobacco smoke exposure status and its associations with perinatal outcomes: a cross-sectional birth studyPublication . Silva, Ana Inês; Camelo, Alexandra; Madureira, Joana; Reis, Ana Teresa; Machado, Ana Paula; Teixeira, João Paulo; Costa, CarlaAbstract: Tobacco consumption and environmental tobacco smoke (ETS) exposure remains an important public health concern. Pregnant women require particular attention as active and passive smoking during pregnancy are associated with multiple adverse perinatal outcomes. This study aimed to biochemically validate self-reported smoking and ETS exposure status among pregnant women, to more precisely ascertain its association with adverse perinatal outcomes. Data refers to 595 pregnant women who sought prenatal care in a public hospital in Porto, Portugal. A standard questionnaire on smoking and ETS-related variables was completed. Urinary cotinine (UC) concentrations were assessed by solid-phase competitive ELISA, in maternal urine samples collected on the day of delivery. The results showed that the optimal UC cut-off value to distinguish smokers from non-smokers and within non-smokers those who were exposed to ETS from those non-exposed in the third trimester of pregnancy was 74.1 ng/mL (sensitivity and specificity of 96.7% and 98.0%, respectively) and 1.6 ng/mL (sensitivity of 66.2% and specificity of 75.7%, respectively). The agreement between maternal self-reported and UC-based smoking status was very good (κ=0.919, p<0.001), but much lower for ETS exposure (κ=0.386, p<0.001). Maternal active smoking in the third trimester of pregnancy was associated with a significant decrease in birth weight, length and head circumference of 157.66 g (95% CI: −245.81, −69.52; p<0.001), 0.78 cm (95% CI: −1.22, −0.34; p=0.001) and 0.39 cm (95% CI: −0.70, −0.07; p=0.016), respectively. Maternal ETS exposure in the third trimester of pregnancy was associated with a non-significant increase in birth weight of 38.37 g (95% CI: −28.91, 105.64; p=0.263). Furthermore, maternal smoking cessation was associated with the increase of approximately 172 g in birth weight (95% CI: 50.00, 293.19). As such, there is an urgent need for increased public health awareness campaigns to encourage smoking cessation during pregnancy, in order to improve perinatal outcomes.
- 13.ª Reunião Anual PortFIR. Alimentação saudável e sustentabilidade alimentar. O que trouxe a pandemia? : Resumo da reuniãoPublication . Brazão, Roberto; Dias, Maria da Graça; Fernandes, Paulo; Lopes, AndreiaResumo da 13.ª Reunião Anual PortFIR, dedicada ao tema “Alimentação saudável e sustentabilidade alimentar. O que trouxe a pandemia?”. A presente edição teve como principais objetivos abordar os temas da alimentação saudável, sustentabilidade alimentar e saúde, refletindo e debatendo os impactos, desafios e oportunidades que se colocaram em consequência da pandemia bem como procurando divulgar movimentos e iniciativas regionais e locais, centradas na alimentação, que foram levadas a cabo para mitigação dos seus efeitos em diferentes setores da sociedade.
- Iodine supplementation: compliance and association with adverse obstetric and neonatal outcomesPublication . Lopes-Pereira, Maria; Quialheiro, Anna; Costa, Patrício; Roque, Susana; Correia Santos, Nadine; Correia-Neves, Margarida; Goios, Ana; Carvalho, Ivone; Korevaar, Tim I.M.; Vilarinho, Laura; Palha, Joana AlmeidaObjectives: Over 1.9 billion people worldwide are living in areas estimated to be iodine insufficient. Strategies for iodine supplementation include campaigns targeting vulnerable groups, such as women in pre-conception, pregnancy and lactation. Portuguese women of childbearing age and pregnant women were shown to be mildly-to-moderately iodine deficient. As a response, in 2013, the National Health Authority (NHA) issued a recommendation that all women considering pregnancy, pregnant or breastfeeding, take a daily supplement of 150-200 μg iodine. This study explored how the iodine supplementation recommendation has been fulfilled among pregnant and lactating women in Portugal, and whether the reported iodine supplements intake impacted on adverse obstetric and neonatal outcomes. Design and methods: Observational retrospective study on pregnant women who delivered or had a fetal loss in the Braga Hospital and had their pregnancies followed in Family Health Units. Results: The use of iodine supplements increased from 25% before the recommendation to 81% after the recommendation. This was mostly due to an increase in the use of supplements containing iodine only. Iodine supplementation was protective for the number of adverse obstetric outcomes (odds ratio (OR) = 0.791, P = 0.018) and for neonatal morbidities (OR = 0.528, P = 0.024) after controlling for relevant confounding variables. Conclusion: The recommendation seems to have succeeded in implementing iodine supplementation during pregnancy. National prospective studies are now needed to evaluate the impact of iodine supplementation on maternal thyroid homeostasis and offspring psychomotor development and on whether the time of the beginning of iodine supplementation (how early during preconception or pregnancy) is relevant to consider.
- NS1 protein as a novel anti-influenza target: Map-and-mutate antiviral rationale reveals new putative druggable hot spots with an important role on viral replicationPublication . Trigueiro-Louro, João; Santos, Luís A.; Almeida, Filipe; Correia, Vanessa; Brito, Rui M.M.; Rebelo-de-Andrade, HelenaInfluenza NS1 is a promising anti-influenza target, considering its conserved and druggable structure, and key function in influenza replication and pathogenesis. Notwithstanding, target identification and validation, strengthened by experimental data, are lacking. Here, we further explored our previously designed structure-based antiviral rationale directed to highly conserved druggable NS1 regions across a broad spectrum of influenza A viruses. We aimed to identify NS1-mutated viruses exhibiting a reduced growth phenotype and/or an altered cell apoptosis profile. We found that NS1 mutations Y171A, K175A (consensus druggable pocket 1), W102A (consensus druggable pocket 3), Q121A and G184P (multiple consensus druggable pockets) - located at hot spots amenable for pharmacological modulation - significantly impaired A(H1N1)pdm09 virus replication, in vitro. This is the first time that NS1-K175A, -W102A, and -Q121A mutations are characterized. Our map-and-mutate strategy provides the basis to establish the NS1 as a promising target using a rationale with a higher resilience to resistance development.
- West Nile virus transmission potential in PortugalPublication . Lourenço, J.; Barros, S.C.; Zé-Zé, L.; Damineli, D.S.C.; Giovanetti, M.; Osório, H.C.; Amaro, F.; Henriques, A.M.; Ramos, F.; Luís, T.; Duarte, M.D.; Fagulha, T.; Alves, M.J.; Obolski, U.It is unclear whether West Nile virus (WNV) circulates endemically in Portugal. Despite the country’s adequate climate for transmission, Portugal has only reported four human WNV infections so far. We performed a review of WNV-related data (1966–2020), explored mosquito (2016–2019) and land type distributions (1992–2019), and used climate data (1981–2019) to estimate WNV transmission suitability in Portugal. Serological and molecular evidence of WNV circulation from animals and vectors was largely restricted to the south. Land type and climate-driven transmission suitability distributions, but not the distribution of WNV-capable vectors, were compatible with the North-South divide present in serological and molecular evidence of WNV circulation. Our study offers a comprehensive, datainformed perspective and review on the past epidemiology, surveillance and climate-driven transmission suitability of WNV in Portugal, highlighting the south as a subregion of importance. Given the recent WNV outbreaks across Europe, our results support a timely change towards local, active surveillance.
- A de novo paradigm for male infertilityPublication . Oud, M.S.; Smits, R.M.; Smith, H.E.; Mastrorosa, F.K.; Holt, G.S.; Houston, B.J.; de Vries, P.F.; Alobaidi, B.K.S.; Batty, L.E.; Ismail, H.; Greenwood, J.; Sheth, H.; Mikulasova, A.; Astuti, G.D.N.; Gilissen, C.; McEleny, K.; Turner, H.; Coxhead, J.; Cockell, S.; Braat, D.D.M.; Fleischer, K.; D’Hauwers, K.W.M.; Schaafsma, E.; Conrad, Donald F.; Nagirnaja, Liina; Aston, Kenneth I.; Carrell, Douglas T.; Hotaling, James M.; Jenkins, Timothy G.; McLachlan, Rob; O’Bryan, Moira K.; Schlegel, Peter N.; Eisenberg, Michael L.; Sandlow, Jay I.; Jungheim, Emily S.; Omurtag, Kenan R.; Lopes, Alexandra M.; Seixas, Susana; Carvalho, Filipa; Fernandes, Susana; Barros, Alberto; Gonçalves, João; Caetano, Iris; Pinto, Graça; Correia, Sónia; Laan, Maris; Punab, Margus; Meyts, Ewa Rajpert-De; Jørgensen, Niels; Almstrup, Kristian; Krausz, Csilla G.; Jarvi, Keith A.; Nagirnaja, L.; Conrad, D.F.; Friedrich, C.; Kliesch, S.; Aston, K.I.; Riera-Escamilla, A.; Krausz, C.; Gonzaga-Jauregui, C.; Santibanez-Koref, M.; Elliott, D. J.; Vissers, L.E.L.M.; Tüttelmann, F.; O’Bryan, M.K.; Ramos, L.; Xavier, M.J.; van der Heijden, G.W.; Veltman, J.A.De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare (MAF < 0.1%) protein-altering de novo mutations are classified as possibly causative of the male infertility phenotype. We observed a significant enrichment of loss-of-function de novo mutations in loss-of-function-intolerant genes (p-value = 1.00 × 10−5) in infertile men compared to controls. Additionally, we detected a significant increase in predicted pathogenic de novo missense mutations affecting missense-intolerant genes (p-value = 5.01 × 10−4) in contrast to predicted benign de novo mutations. One gene we identify, RBM5, is an essential regulator of male germ cell pre-mRNA splicing and has been previously implicated in male infertility in mice. In a follow-up study, 6 rare pathogenic missense mutations affecting this gene are observed in a cohort of 2,506 infertile patients, whilst we find no such mutations in a cohort of 5,784 fertile men (p-value = 0.03). Our results provide evidence for the role of de novo mutations in severe male infertility and point to new candidate genes affecting fertility.