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- A novel deleterious variant and a founder effect in four new families of MBD4-Associated Neoplasia Syndrome recruited over a period of 20 YearsPublication . Querido, Inês; Pinto, Carla; Arinto, Patrícia; Brandão, Andreia; Santos, Catarina; Pinheiro, Manuela; Guerra, Joana; Silva, João; Peixoto, Ana; Teixeira, Manuel R.; Pinto, CarlaDNA glycosylases play a crucial role in DNA repair mediated by the base excision repair (BER) pathway, and alterations in these enzymes have been associated with hereditary cancer predisposition. Recently, germline biallelic loss-of-function variants in MBD4 were shown to be responsible for a novel autosomal recessive multi-tumor predisposition syndrome, provisionally denominated as MBD4-associated neoplasia syndrome and characterized by the association of adenomatous polyposis, colorectal cancer, and acute myeloid leukemia (AML). Here, we studied the MBD4 gene in five individuals from four families affected by adenomatous polyposis and AML, who had been referred for genetic counselling at a single institution over a period of approximately 20 years. All patients with this phenotype presented homozygous deleterious germline variants in MBD4, of which one is a founder variant recurrent in three of the families, and another variant has not been previously described in the literature. Our work allowed a molecular diagnosis for these families and significantly contributes to expanding the knowledge about this emerging syndrome caused by MBD4 constitutional deficiency.
- The impact of war on asthma, a systematic review and meta-analysis: An EAACI task force reportPublication . Rufo, João Cavaleiro; Paciência, Inês; Jutel, Marek; Moreira, André; Annesi-Maesano, Isabella; Suojalehto, Hille; Zemelka-Wiącek, Magdalena; Trikamjee, Thulja; Demir, Semra; Eguíluz-Gracia, Ibon; Carvalho, Daniela; Backland, Anaïs; Lawson, Josh; Cavaleiro Rufo, JoãoWartime events have been followed by an increase in asthma prevalence, which is believed to result from a combination of environmental hazards and psychological trauma. This systematic review and meta-analysis aimed to investigate this relationship by pooling available data on various wartime exposures, such as occupational, environmental, and psychological factors. MEDLINE, Scopus, and Cochrane databases were searched for articles that measure the effect of war-related exposures on asthma. Risk of bias was assessed using the Effective Public Health Practice Project tool. The retrieved effects were then used to fit meta-analytical models. A total of 48 studies, corresponding to 90 effect measures, were included. War-related post-traumatic stress disorder showed the strongest association with asthma outcomes (OR [95% CI]=2.25 [1.04, 4.89]), followed by experiencing at least one life-threatening event (1.96 [1.18, 3.26]) and depression (1.56 [1.02, 2.37]). Although environmental exposures were also associated with an increased asthma risk in subgroup analysis (1.64 [1.32, 2.04]), this effect was mitigated when psychological variables were included in the models. The study's results show that wartime events and conflicts may increase asthma prevalence and outcomes associated with asthma. The management of asthma symptoms, lung function, and mental health seems fundamental in individuals who have experienced psychological trauma in war zones.
- Occupational exposure to solar ultraviolet radiation: A systematic review of protective measuresPublication . Rocha, Ricardo; Santos, Joana; Baptista, João Santos; Guedes, Joana; Carvalhais, Carlos; Alberto Alves Carvalhais, Carlos; Santos, JoanaSolar ultraviolet radiation (UVR) is classified as a Group 1 carcinogen and poses a significant occupational hazard to outdoor workers. Despite preventive guidelines, adherence to protective measures remains inconsistent. This systematic review identified the protective measures adopted by healthy outdoor workers and assessed their adherence to and the effectiveness of these measures. Following the PRISMA 2020 statement, the review searched Scopus, Web of Science, and PubMed for peer-reviewed studies published between 2015 and 2025. Eligible studies included at least 100 healthy participants and evaluated preventive or protective measures against solar UVR. Independent reviewers extracted data and assessed risk of bias using the McMaster Critical Review Form. From 17,756 records, 51 studies met the inclusion criteria after screening and a subsequent snowballing process. The identified protective strategies clustered into physical, behavioural, and organisational categories. Adherence ranged from low to moderate, with structured interventions and employer support improving compliance. Sunscreen use remained low due to perceived inconvenience and lack of provision. Overall, the evidence revealed substantial variability in implementation and effectiveness across occupations. Strengthened regulations and integrated interventions combining education, personal protective equipment, and organisational measures are essential. Future research should prioritise longitudinal designs and objective indicators such as biomarkers and dosimetry.
- Dose-dependent pharmacological mechanisms within the Neuroscience-based Nomenclature: a new concept to facilitate neuroscience-based prescribingPublication . Zemach, Sasson; Zohar, Joseph; Correll, Christoph U.; Stahl, Stephen M.; Drago, Filippo; Goodwin, Guy M.; Moller, Hans-Jurgen; Uchida, Hiroyuki; Siafis, Spyridon; Santos, Marlene; Blier, Pierre; Santos, MarleneIn this Personal View, we introduce the concept of different dosage different pharmacology (DDDP), which describes how certain psychotropic medications have distinct therapeutic effects at low and high doses due to differing neurobiological mechanisms. Using the Neuroscience-based Nomenclature (NbN) framework, which classifies drugs by pharmacology and modes of action, we identified ten agents demonstrating DDDP in a comprehensive expert-based consensus process: amisulpride, amitriptyline, aripiprazole, brexpiprazole, cariprazine, doxepin, mirtazapine, quetiapine, risperidone, and trazodone. These medications show clearly demarcated dose-dependent effects, with changes in pharmacological action. For example, some drugs show anxiolytic or hypnotic effects at low doses (via histamine H1 or noradrenergic α1 antagonism) and antidepressant effects at high doses (via reuptake inhibition of serotonin or norepinephrine). Understanding these differences supports more rational prescribing (eg, increasing dopamine partial agonist doses beyond the optimal range might reduce efficacy). DDDP, within the NbN framework, offers a neuroscience-based approach to more precise psychopharmacology.
- Ensinar e aprender na era da Inteligência Artificial GenerativaPublication . Cruz, Mário; Queirós, RicardoEste livro analisa criticamente a integração da Inteligência Artificial Generativa no ensino superior, assumindo-a como uma questão pedagógica, epistemológica e ética, e não apenas tecnológica. A obra problematiza discursos tecnodeterministas e abordagens instrumentais, propondo uma leitura informada e situada da IA enquanto fenómeno sociotécnico que intervém em práticas centrais da vida académica, como a escrita, a avaliação, a produção de conhecimento e a mediação pedagógica. Ao longo dos capítulos, são mobilizados contributos da pedagogia crítica, das teorias da aprendizagem e de referenciais éticos internacionais, articulando evidência científica, reflexão conceptual e propostas de análise da prática docente. O livro dirige-se a docentes do ensino superior e foi concebido para aprendizagem autónoma, promovendo o desenvolvimento de literacia crítica em Inteligência Artificial, a reflexão sobre integridade académica e a construção de posicionamentos pedagógicos conscientes e responsáveis face ao uso da IA generativa em contextos de ensino superior.