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- Infeção por VIH em Portugal – 2025Publication . Direção-Geral da Saúde; Instituto Nacional de Saúde Doutor Ricardo JorgeRelatório anual Infeção VIH em Portugal – 2025. Este relatório conjunto DGS/INSA apresenta os dados mais recentes da vigilância epidemiológica da infeção por VIH em Portugal, bem como resultantes de iniciativas de prevenção e rastreio desenvolvidas no âmbito do Programa Nacional para as Infeções Sexualmente Transmissíveis e Infeção pelo VIH (PNISTVIH). Dos resultados e conclusões apresentados no documento, destaca-se o seguinte: (1) Vigilância epidemiológica: - Em Portugal, segundo os dados recolhidos a 30 de junho de 2025, foram notificados 997 casos de infeção por VIH com diagnóstico em 2024, dos quais 951 com diagnóstico em Portugal; - Registou-se uma redução de 35% no número de novos casos de infeção por VIH e de 43% em novos casos de SIDA entre 2015 e 2024; - A maioria (72,3%) dos novos casos de infeção VIH em adolescentes e adultos (≥ 15 anos) registou-se em homens. A taxa de novos diagnósticos mais elevada registou-se no grupo etário dos 25-29 anos (28,5 casos/105 habitantes) e em 25,2% dos novos casos a idade ao diagnóstico foi igual ou superior a 50 anos. Foram notificados 3 casos de infeção VIH em crianças com idade <15 anos; - A transmissão heterossexual mantém-se como a mais frequente (52,5%), mas os casos em homens que têm sexo com homens (HSH) corresponderam à maioria dos novos diagnósticos em homens (60,6%); - Apresentaram-se tardiamente aos cuidados de saúde 53,9% das pessoas com novo diagnóstico de VIH e 65,4% das pessoas com 50 ou mais anos; - Foram comunicados 194 casos de SIDA com diagnóstico do estádio em 2024 e 108 óbitos em pessoas que viviam com VIH. Em 46,3% dos óbitos o diagnóstico VIH tinha ocorrido há mais de 20 anos; - Em Portugal, ao longo das quatro décadas da epidemia VIH, foram diagnosticados 66 421 casos de infeção por VIH, 23 946 atingiram o estádio de SIDA e foram notificados 16 080 óbitos. Estima-se que viviam em Portugal, em 2023, 49 699 pessoas com infeção por VIH (PVVIH), 94,2% destas já diagnosticadas; - Foi possível obter dados completos do "continuum of care" de 26 hospitais nacionais, relativos a 36 184 PVVIH, constatando-se que 97,8% estavam em tratamento e, destas, 95,9% atingiram a supressão virológica; - O relatório apresenta ainda uma análise das causas de morte reportadas nos certificados dos óbitos de pessoas que viviam com VIH, constatando-se que desde 2021 predominam as causas de morte não associadas à infeção por VIH; - São também apresentadas as características dos casos com diagnóstico entre 2014 e 2023 e residência nas 12 cidades portuguesas que aderiram à iniciativa Fast-track cities. As estimativas realizadas revelaram que em cinco destas cidades mais de 95% das PVVIH que conheciam a sua infeção. (2) Prevenção, rastreio e estigma: - O PNISTVIH prosseguiu e/ou monitorizou as atividades referentes à prevenção da infeção por VIH efetuadas em 2024, com destaque para a distribuição de materiais preventivos, o Programa de Troca de Seringas, a profilaxia pré-exposição ao VIH (PrEP) e a profilaxia pós-exposição (PPE). É apresentado um balanço positivo, tendo aumentado significativamente o número de pessoas que tiveram acesso à PrEP, incluindo fora do contexto hospitalar. O número de testes de rastreio e diagnóstico para VIH realizados no país, em diferentes contextos, mostrou um ligeiro decréscimo face aos anos precedentes.
- Registo Nacional de Anomalias Congénitas: relatório 2020-2021Publication . Braz, Paula; Machado, Ausenda; Aniceto, Carlos; Dias, Carlos MatiasRelatório do Registo Nacional de Anomalias Congénitas (RENAC) referente aos anos 2020 e 2021, elaborado pelo Departamento de Epidemiologia, que apresenta um panorama atualizado da prevalência das Anomalias Congénitas (AC) em Portugal. Os dados presentes no relatório resultam de notificações reportadas até setembro de 2024. O RENAC, é um registo nosológico de base populacional que recebe notificações da ocorrência de Anomalias Congénitas (AC) em Portugal, com dados disponíveis desde 1997. Este instrumento de monitorização e vigilância das AC recebe notificações de casos diagnosticados nos recém-nascidos, fetos-mortos e nos fetos submetidos a interrupção médica da gravidez, após o diagnóstico de malformação grave. Os objetivos essenciais deste registo são: i) Epidemiologia - fornecer informação essencial sobre a epidemiologia das AC em Portugal; ii) Vigilância - manter um sistema de vigilância ativo que permita detetar novas exposições teratogénicas; iii) Investigação - manter uma base de dados acessível para a investigação; iv) Rede Europeia – colaborar com a rede europeia de registos de AC.
- Optimising non-pharmacological interventions in people with non-tuberculous mycobacterial pulmonary disease: a systematic reviewPublication . Sulaiman, Naif; Martins, Beatriz; Moreira-Sousa, Diana; Aguiar, Ana; Hurst, John R.; Brown, James; Duarte, Raquel; Lipman, MarcIntroduction: Treatment of non-tuberculous mycobacterial pulmonary disease (NTM-PD) is often complex, relying on long treatment courses with multiple antibiotics, which are associated with treatment intolerance and failure. Current guidelines provide limited insight into non-pharmacological treatment, which is believed to be an important component of symptom control and is related to treatment outcomes with an established evidence base in other chronic respiratory diseases. Methods: The authors conducted a systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to identify studies on non-pharmacological interventions for NTM-PD, focusing on airway clearance techniques, pulmonary rehabilitation, nutritional support and psychological care. Results: There was little evidence regarding the impact of non-pharmacological interventions in NTM-PD. We identified three studies that described a positive impact of airway clearance techniques, including oscillating positive expiratory pressure, chest physical therapy with devices such as Acapella and Flutter, as well as chest oscillatory techniques (e.g. Vest) and hypertonic saline nebulisation. We found no relevant studies in NTM-PD reporting the use of nutrition, pulmonary rehabilitation or psychological care as interventions in this group of patients. Conclusions: Non-pharmacological interventions show potential in managing NTM-PD, although significant evidence gaps remain. This review highlights the importance of expanding high-quality studies on the use of these interventions to people with NTM-PD.
- Is Antisense Oligonucleotide-Mediated Exon Skipping a Potential Therapeutic Approach for Mucolipidosis II?Publication . Gonçalves, Mariana; Moreira, Luciana; Encarnação, Marisa; Duarte, Ana Joana; Gaspar, Paulo; Santos, Juliana Inês; Coutinho Maria Francisca; Prata, Maria João; Omidi, Maryam; Pohl, Sandra; Silva, Frederico; Oliveira, Paula; Matos, Liliana; Alves, SandraIntridution: Mucolipidosis II (ML II) is a Lysosomal Storage Disorder caused by N-acetylglucosamine-1-phosphotransferase (GlcNAc-PT) deficiency, which impairs lysosomal hydrolases trafficking. Here, we explored an innovative therapeutic strategy based on the use of antisense oligonucleotides (ASOs) to promote targeted skipping of GNPTAB exon 19, which harbors c.3503_3504del, the most frequent disease-causing variant. Previously, in ML II patients’ fibroblasts, we tested ASOs to induce exon 19 skipping, successfully generating an in-frame mRNA1. Now, our aim is to determine if this in-frame transcript leads to increased GlcNAc-PT levels. Methodology: First, the GlcNAc-PT activity was measured in fibroblasts, but activity levels were similar in ML II and control fibroblasts (treated/non-treated) showing that the assay is not proper to measure endogenous levels. To overcome this, we designed 3 constructs: a WT (full GNPTAB cDNA), a del_ex19 (without exon 19) and a mutant (with the mutation c.3503_3504del) that were transfected in HEK293T cells. Then GlcNAc-PT expression was analyzed by Western Blot (WB). Also, we measured the activity of several hydrolases and evaluated the expression of α-galactosidase A (α-Gal) by WB after ASO treatment. To further validate this therapy we also generated a novel GlcNAc-PT antibody in rabbits. Results: Our results showed that HEK293T cells were able to express all the constructs. The WB of both WT and del_ex19 constructs showed bands corresponding to the α/β precursor. However, only the WT construct expressed the β-subunit, suggesting that there is no GlcNAc-PT activity in the absence of exon 19. As expected, in the delTC construct WB no α/β precursor band was detected. We also observed a slight increase in the activity of various lysosomal hydrolases in ML II fibroblasts after treatment. However, only the α-Gal values were statistically significant, but the WB analysis for this enzyme did not reveal any band in ASO-treated ML II cells. We also developed a novel antibody for GlcNAc-PT. Preliminary results showed a β-subunit band both in control and patient fibroblasts (unexpected), but in overexpression both WT and del_ex19 constructs presented α/β precursor bands. So, further assays are needed to assess its specificity. Conclusion: Our ASO-based approach effectively promotes exon 19 skipping. However, this strategy, as far as we have been able to prove, is not able to restore any GlcNAc-PT enzymatic activity. Further validation, including co-localization studies are planned to clarify these findings.
- A multinational Delphi consensus on tuberculosis screening of migrants in EuropePublication . Pinheiro, Marina; Aguiar, Ana; Moreira, David N.; Akkerman, Onno W.; Al-Suwaidi, Zubaida; Alffenaar, Jan-Willem C.; Arandjelović, Irena; Brito, Ulisses; de Colombani, Pierpaolo; Curcic, Radmila; Garcia-Basteiro, Alberto L.; Goletti, Delia; Günther, Gunar; Ibraim, Elmira; Kapata, Nathan; Lange, Christoph; Lipman, Marc; Jankovic Makek, Mateja; Marais, Ben J.; Mariandyshev, Andrei; Magis-Escurra, Cecile; Migliori, Giovanni Battista; Sánchez Montalvá, Adrián; Nanovic, Zorica; Palmero, Domingo Juan; Priwitzer, Martin; Raviglione, Mario C. B.; Silva, Denise Rossato; Salzer, Helmut J.F.; Schwarzbach, Christian; Spruijt, Ineke; Winthrop, Kevin L.; Udwadia, Zarir; Vasankari, Tuula; Vilaplana, Cristina; Duarte, RaquelThe disproportionate burden of tuberculosis among migrants in the World Health Organization (WHO) European Region underscores the urgent need to address the public health challenges associated with global migration. Recommendations for screening of pulmonary tuberculosis (TB) and TB infection (TBI) are highly variable across European countries, highlighting the need for standardised practices and coordinated efforts to reduce TB risk more effectively. This study aims to produce a harmonised set of recommendations to contribute to elaboration for policy action using the Delphi method. It brings together a multidisciplinary panel of 33 TB experts from academia, healthcare, non-governmental organisations and government agencies across 22 countries to formulate consensus-based recommendations. The panel created 19 consensus statements and 36 recommendations for governments, health systems and other stakeholders. The recommendations span four key domains: 1) policy, 2) health systems and health professionals, 3) screening procedures and priority populations and 4) continued treatment and care. This study recommends a unified, evidence-based approach to TB screening in migrants, with free access to diagnosis and treatment, culturally sensitive care, use of digital tools and coordinated efforts across health systems to ensure effective and equitable TB control in Europe. Thus, the experts emphasised key recommendations that strike a balance between immediate health system interventions, screening procedures and cultural inclusivity to more effectively address TB among migrants. The findings of this study offer actionable policies to address gaps and weaknesses in Europe's response to tuberculosis among migrants, advancing efforts to eliminate TB as a public health threat.
- Unavoided cerebral palsy after induced hypothermiaPublication . Moreira , Tânia; Folha, Teresa; Virella, Daniel; Programa de Vigilância Nacional da Paralisia CerebralInduced hypothermia (IH) reduces the risk of death or cerebral palsy (CP) among term neonates with moderate-to-severe hypoxic-ischemic encephalopathy (HIE). It is now accepted as the standard of care. The aim of the study is intend to access if the severity of CP among survivors of HIE after IH is similar to their counterparts not submitted to IH or otherwise. Data from Portuguese Surveillance of Cerebral Palsy registers 5 to 8-year-old children with CP, born in Portugal between 2010-2016 ≥ 36 weeks gestation and andmitted into the neonatal care unit. From 2967 registered children with CP, 790 were identified as been born in Portugal between 2010 and 2016. From 86 eligible children (42 born 2010-12, 44 born 2013-16), 35 (42%) had been on IH. Overall, children with CP, if had been on IH had higher prevalence of Dyskinetic CP 57% vs 35%; p 0.04; GMFCS III-V 80% vs 56.5%; p 0.03; MACS II-V 85% vs 62%; p 0.04. Increased CP complexity: 0 indicators 10% vs 16%; 1-2 indicators 33% vs 51%; 3-4 indicators 57% vs 32%; p 0.057 No differences were found on the prevalences of epilepsy, higher grade affection on Viking SS or cognition and schooling. Children of the 2013-2016 cohort, compared with the 2010-2012 cohort did not reveal significant improvement in any of the clinical or functionality parameters. Instead, a tendency for a higher prevalence of GMFCS III-V was found (p 0.066). Children with CP, if having been on IH, seem to be more likely to have high complexity CP. Surveillance data provide useful information on the effectiveness IH to prevent CP after HIE.
- Nirsevimab effectiveness against hospitalised Respiratory Syncytial Virus infection in Portugal, 2024/25 seasonPublication . Gaio, Vânia; Valadas Henriques, Camila; Lança, Miguel; Machado, Ausenda; Guiomar, Raquel; Rodrigues, Ana PaulaBackground: Respiratory Syncytial Virus (RSV) is one of the leading causes of lower respiratory tract infections in younger children. In mainland Portugal, in order to reduce the risk of severe RSV post-infection complications, an immunisation strategy using Nirsevimab was implemented starting in October 2024, targeting all children aged less than 3 months, and those with high-risk conditions less than 24 months. We conducted a test-negative case-control study using the national hospital-based RSV surveillance network to estimate Nirsevimab effectiveness (NE). Methods: This multicentre study included children aged under 24 months hospitalised with severe acute respiratory infection in 14 hospitals. Cases were defined as children testing positive for RSV by RT-PCR or rapid antigen test (RAT), while controls tested negative. Immunisation status was obtained from electronic medical records. NE was estimated using logistic regression and estimated as (1 – adjusted odds ratio of immunisation) × 100, adjusting for age group, sex, month of symptom onset date, low birth weight, prematurity, and chronic conditions. Results: Between weeks 40/2024 and 12/2025, we included 111 cases and 110 controls. The median age for both groups was 2 months (IQR: 1–4). 44 (39.6%) RSV-positive and 80 (72.7%) RSV-negative infants received Nirsevimab at least 2 days before symptom onset. No significant differences were observed between cases and controls regarding sex or medical conditions. NE against RSV-associated hospitalisation was 85% (95% CI: 66–94) in the target population. Sensitivity analysis restricted to RT-PCR-confirmed cases yielded similar results. Conclusions: During the first immunisation season in mainland Portugal, Nirsevimab conferred good protection against the most severe presentation of RSV infection in young children. Our results are aligned with those reported in other countries. Given the potential for viral evolution following the introduction of universal immunisation programmes, ongoing monitoring of NE is warranted.
- Psychosocial factors of vaccine confidence: an exploratory study among Portuguese healthcare workersPublication . Gaio, Vânia; Saraiva, Ana Leonor; Santos, Ana João; Amaral, Palmira; Machado, AusendaBackground: Healthcare workers (HCWs) play a critical role in vaccination uptake, both through personal adherence and by promoting immunisation among patients. Low vaccine confidence among HCWs can undermine public health efforts by reducing personal vaccination rates, but also impacting vaccine recommendations. This study aimed to assess psychosocial determinants influencing vaccine confidence among HCWs in Portugal. Methods: A cross-sectional study was conducted between October and November 2024 among doctors and nurses from a Portuguese healthcare unit. An online questionnaire incorporating an adapted short version of the Professionals Vaccine Confidence and Behaviors (Pro-VC-Be) scale was applied. Exploratory factor analysis (EFA) was conducted to assess the scale’s unidimensionality. Descriptive statistics, bivariate analyses (vaccinated vs. non-vaccinated) using Fisher’s exact and Pearson’s Chi-squared tests were performed to identify key psychosocial dimensions of vaccine confidence. Results: Among 112 HCWs (82% female; 71% nurses), 67% were vaccinated against COVID-19 in the 2024/25 season. EFA suggested an unidimensional structure, with one dominant factor (eigenvalue=1.90) explaining 56% of the variance. Vaccinated HCWs showed significantly higher confidence scores (mean=42.9 vs. 40.8; p=0.003). Trust in vaccine safety (p=0.027), belief in vaccine benefits (p=0.011), and complacency (p=0.048) were positively associated with COVID-19 vaccination status. Conclusions: This exploratory study highlights key psychosocial determinants of vaccine confidence among Portuguese HCWs, notably perceived safety and effectiveness. Given the small sample size, results should be interpreted with caution. Applying the scale to a larger and more diverse population of HCWs is essential to validate these findings and support the development of targeted strategies focusing on building trust and combating misinformation to enhance vaccine uptake.
- Combined effect of extreme heat and particulate matter on daily mortality in mainland PortugalPublication . Canha, Filipa; Leite, Andreia; Gaio, Vânia; das Neves Pereira da Silva, SusanaRising temperatures and air pollution in the context of climate change pose increasing health risks. Evidence suggests a synergistic effect between heat and PM, but few areas of Portugal have been studied. This study aimed to assess the interaction effect of extreme heat and PM on daily mortality across mainland Portugal. We conducted a two-stage time series analysis for the summers (May-September) from 2003 to 2023, using daily data on maximum temperature, mean PM10 and PM2.5 concentrations separately, and all-cause mortality across all mainland districts. Extreme heat and high PM levels were defined as values above the 90th percentile. To account for delayed effects, a 7-day moving average was used for PM, and distributed lag non-linear models (DLNM) with a 10-day lag for temperature. In the first stage, we estimated cumulative relative risks (cRR) of the interaction between exposures on mortality, using the minimum mortality temperature (MMT) and high PM as reference. District cRR were pooled using a random-effects meta-analysis, with the European Deprivation Index (EDI-PT) as a meta-predictor. An interaction effect between extreme heat and high PM pollution on mortality was found in most districts. cRR ranged from 1.01 (95% CI: 0.93; 1.11) to 1.35 (95% CI: 1.17; 1.56) for extreme heat and high PM2.5, and from 1.02 (95% CI: 0.86; 1.22) to 1.34 (95% CI: 1.16; 1.55) for extreme heat and PM10, compared with MMT and high PM. The overall interaction effect in mainland Portugal, for temperatures at the 90th percentile, both showed an overall cRR of 1.03 (95% CI: 1.01; 1.05). EDI-PT was excluded as it did not explain the heterogeneity between districts. There is a synergistic effect between extreme heat and PM on mortality in Portugal. This highlights the need to integrate this evidence into public health measures, enhancing health surveillance systems to better monitor and respond to the joint effects of extreme heat and air pollution.
- ICPerMed Working Group Policy & Strategy and EP PerMed - Synergies and CooperationPublication . Vicente, Astrid MouraICPerMed is a platform that supports strategic and funding coordination, sharing and collaboration to promote research and implementation of personalized medicine (PM) approaches.