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- Gender-based violence against women and girls aged ≥15 years presenting to European emergency departments: a multinational, cross-sectional analysisPublication . Carannante, Anna; Pitidis, Alessio; Fondi, Gianni; Fian, Tabea; Alves, Tatiana; Valkenberg, Huib; Nijman, Susanne; Giustini, Marco; IDB groupBackground: Gender-based violence (GBV) is an important public health issue in Europe, yet standardised cross-national data remain scarce. Emergency departments (EDs) are often the first point of contact for an individual who has been assaulted. This study aimed to analyse GBV-related ED presentations using data from the European Injury Database (IDB). Methods: This cross-sectional study analysed IDB data from 16 European countries (Jan 1, 2008, to Dec 14, 2023), defining GBV as intentional injuries inflicted by male perpetrators, involving female individuals aged ≥15 years. Descriptive analyses compared GBV with other female injuries (female victims in whom the perpetrator was recorded as female or was not specified). Multivariable logistic regression assessed GBV-associated injury severity compared with other violence against girls and women, adjusting for age, period, and country. Findings: Of 5 643 295 injury-related ED attendances, 1 960 096 were other female injuries and 21 048 were violence cases, of which 10 315 were GBV. Mean age was 38·2 years (SD 15·7) for individuals subjected to GBV and 55·3 years (41·5) for those with other female injuries. There were higher rates of head and face injuries, contusions, and asphyxiation-related injuries in cases of GBV than other female injuries, but there were lower rates of fractures. Most GBV events occurred in domestic settings (5802 [56·3%] of 10 315 GBV cases) and during night-time hours (3931 [41·9%]), involving physical force (7340 [73·1%]); perpetrators were most commonly intimate partners (4906 [47·6%]) or strangers (1546 [15·0%]). Hospital admission was more frequent in GBV than in other female injuries (2210 [21·4%] of 10 315 vs 366 765 [18·7%] of 1 960 096; p<0·0001). GBV was associated with higher injury severity compared with other female injuries after adjustment (odds ratio 1·22, 95% CI 1·12-1·34; p<0·0001). Interpretation: GBV-related ED cases show distinct features that characterise the visible spectrum of violence against girls and women in emergency settings. These patterns highlight the need for improved documentation and greater awareness of less visible presentations. Cross-national variability underscores the need for harmonised surveillance protocols to capture the true burden of GBV in Europe.
- Relatório REVIVE 2025 - Culicídeos, Ixodídeos e Flebótomos: Rede de Vigilância de VetoresPublication . Centro de Estudos de Vetores e Doenças Infeciosas Doutor Francisco CambournacRelatório REVIVE: Rede de Vigilância de Vetores (Culicídeos, Ixodídeos e Flebótomos) relativo às atividades desenvolvidas em 2025. O programa REVIVE visa monitorizar a atividade de artrópodes hematófagos, caracterizar as espécies e sua ocorrência sazonal, e identificar agentes patogénicos importantes em saúde pública. Das atividades apresentadas no presente relatório, destaca-se o seguinte: REVIVE – Culicídeos: - Participaram na vigilância REVIVE Culicídeos as cinco Regiões de Saúde do continente e a Direção Regional de Saúde da Madeira, tendo sido realizadas colheitas de mosquitos em 243 concelhos de Portugal; - No total, foram identificados 44 123 mosquitos de 22 espécies, bem como 48 503 ovos de espécies invasoras; - O mosquito invasor Aedes aegypti encontra-se presente na Região Autónoma da Madeira desde 2005. Outra espécie invasora de mosquito, Aedes albopictus, foi identificada pela primeira vez na região Norte em 2017, no Algarve em 2018, no Alentejo em 2022, na região de Lisboa em 2023 e na região Centro em 2024. Em 2025, Aedes albopictus foi identificado em 28 concelhos, representando um alargamento significativo face a 2024. Estas espécies são vetoras de agentes etiológicos como os vírus dengue, Zika e chikungunya e têm vindo a aumentar a sua distribuição geográfica em Portugal; - A pesquisa de flavivírus e alfavírus patogénicos para o Homem foi negativa na maioria das amostras, com exceção da deteção de vírus dengue serótipo 2 (DENV 2) em amostras de Aedes aegypti provenientes da Região Autónoma da Madeira; - No âmbito do REVIVE – Culicídeos, foi realizada vigilância entomológica em cinco aeroportos internacionais, dois aeródromos, 16 portos e nove outros pontos de entrada, de acordo com o Regulamento Sanitário Internacional. REVIVE – Ixodídeos: - Participaram na vigilância REVIVE Ixodídeos as cinco Regiões de Saúde do continente e a Direção Regional de Saúde da Madeira, entidades responsáveis pela recolha de carraças em 242 concelhos; - Em 2025, foram identificadas 6612 carraças. Para além das 12 espécies da família Ixodidae já descritas em Portugal, foram ainda detetados exemplares exóticos pertencentes à família Argasidae; - Do total de 1766 carraças analisadas para deteção de DNA de Borrelia spp. e Rickettsia spp., 2,3% revelaram-se positivas para Borrelia e 19,7% para Rickettsia; - Destacou se, neste ano, a identificação de oito espécies de Borrelia: Borrelia afzelii, B. bavariensis, B. burgdorferi sensu stricto, B. garinii, B. lusitaniae, B. valaisiana, todas pertencentes ao grupo etiológico da borreliose de Lyme, bem como B. miyamotoi e Borrelia HTRF, associadas a borrélias filogeneticamente relacionadas com o grupo da febre recorrente transmitida por carraça; - Relativamente à deteção de Rickettsia, foram identificadas sete espécies: Rickettsia aeschlimannii, R. conorii (agente da febre escaro nodular), R. helvetica, R. massiliae, R. monacensis, R. raoultii e R. slovaca, sendo estas duas últimas associadas à rickettsiose denominada TIBOLA/DEBONEL; - A pesquisa do vírus da febre hemorrágica da Crimeia Congo (CCHFV) foi realizada em 143 exemplares do género Hyalomma spp., tendo todos apresentado resultado negativo. REVIVE – Flebótomos: - Participaram na vigilância REVIVE- Flebótomos as cinco Regiões de Saúde do continente, com colheitas dedicadas em 65 concelhos e colheitas acidentais em 43 concelhos; - No total, foram colhidos 1448 flebótomos, tendo sido identificados exemplares pertencentes às cinco espécies conhecidas em Portugal: Phlebotomus ariasi, Ph. papatasi, Ph. perniciosus, Ph. sergenti e Sergentomyia minuta; - Foram analisados 896 flebótomos para deteção de Leishmania spp. e de flebovírus; - A presença do flebovírus Toscana foi detetada na Região Centro, no concelho de Pedrógão Grande, e na Região Norte, no concelho de Resende. O programa REVIVE resulta da colaboração entre instituições do Ministério da Saúde (Direção-Geral da Saúde, Administrações Regionais de Saúde, Direções Regionais de Saúde e INSA).
- The p.Ala1035Val variant in Niemann–Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effectPublication . Alegretti, Ana Paula; Hammerschmidt, Tatiane; Ribeiro, Isaura; Quelhas, Dulce; Polese-Bonato, Márcia; Saraiva-Pereira, Maria Luiza; Martins, Esmeralda; Guigliani, Roberto; Encarnação, Marisa; Alves Sandra; Regla Vargas, CarmenIntroduction: Niemann–Pick disease type C1 (NPC1, OMIM 257220) is a rare, progressive, and fatal autosomal recessive lysosomal storage disorder caused by pathogenic variants in the NPC1 gene. These variants disrupt intracellular lipid trafficking, leading to the accumulation of cholesterol and glycosphingolipids and resulting in severe, multisystem dysfunction for which no cure currently exists. Materials and methods: To investigate the potential founder effect and shared ancestry of the p.Ala1035Val variant, we analyzed 30 genetically confirmed NPC1 cases, comprising 18 Brazilian (12 of whom were homozygous) and 12 Portuguese participants (3 of whom were homozygous), each carrying at least one p.Ala1035Val allele. Diagnosis was established by clinical evaluation, biochemical assays, and filipin staining, with molecular confirmation by NPC1 genotyping. Results: All analyzed individuals exhibited a conserved haplotype across the SNVs in exons 6 (c.644 A > G, p.His215Arg), 12 (c.1926G > C, p.Ile642Met), 17 (c.2572 A > G, p.Ile858Val), and 18 (c.2793C > T, p.Asn931=), strongly supporting a shared founder effect consistent with an Iberian-associated ancestral background. Among Brazilian (n = 14), visceral involvement occurred in 10/14 (71.4%), predominantly hepatosplenomegaly (6/14, 42.9%), and developmental/cognitive alterations in 10/14 (71.4%), followed by ataxia or gait disturbance in 4/14 (28.6%). Among the Portuguese (n = 3), all presented with visceral involvement, characterized by hepatosplenomegaly (3/3, 100%); one had developmental delay (1/3, 33.3%), and none exhibited ataxia/gait disturbance. Despite the small sample size, clinical patterns appeared similar between the two groups, with differences likely reflecting sampling variability. Discussion: These findings expand the known variant spectrum of NPC1 in Brazilian and Portuguese populations, supporting a possible founder effect resulting from Portuguese colonisation. They also highlight the clinical value of haplotype analysis as a tool for tracing disease origin and improving stratification in medical settings. Furthermore, they emphasise the importance of refining early diagnostic strategies to optimise patient management and improve outcomes in NPC, while highlighting the need for larger, multicenter studies to corroborate this hypothesis and refine its clinical and genetic implications.
- Impact of the transition to HPV-based primary screening in Portugal's organized cervical cancer screening program: A controlled interrupted time-series analysis (2014-2023)Publication . Sousa, Rita; Fonseca-Moutinho, José Alberto; Gomes, Fábio; Loureiro, Fernanda; Goes, Ana Rita; Soares, PatriciaObjectives: To evaluate the impact of transitioning from cytology to primary human papillomavirus (HPV) testing on cervical cancer screening (CCS) performance in Portugal's Central Region. Study design: Retrospective, population-based evaluation using a controlled interrupted time-series (CITS) approach. Methods: CCS registry data (2014–2023) were analyzed in six-month intervals. Three performance indicators (participation, test positivity, and priority referrals) were modeled using negative binomial regression with appropriate offsets. A COVID-19 covariable (national lockdown, March–June 2020) adjusted for the temporary suspension of screening services. The organized breast cancer screening (BCS) program served as an external control to distinguish CCS-specific effects from system-wide temporal fluctuations. Results: The analysis included 594,074 CCS and 888,184 BCS screening episodes. Following HPV implementation, CCS evolved differently from the control group across all outcomes. Priority referrals showed the strongest effect, with a four-fold immediate increase in CCS not observed in BCS (IRR: 4.31; 95% CI: 3.89-4.79). Participation and test positivity also diverged between programs, although with smaller magnitude changes. Post-intervention trends differed across all outcomes, although the COVID-19 pandemic, occurring shortly after implementation, complicates the interpretation of temporal patterns. Conclusions: Transition to HPV-based screening was associated with changes in screening processes, including increased identification of high-risk cases requiring priority referral while maintaining participation. By incorporating an external control, the CITS approach strengthens attribution of observed effects to HPV implementation rather than background system dynamics. These findings support HPV-based screening within organized programs and highlight its role in improving risk stratification and program performance.