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- Thromboembolic disease in testicular germ cell tumors-real-world evidence of three Portuguese institutionsPublication . Albuquerque, Joana; Oliveira, Martim; Neto-Silva, Diana; Margarido, Inês; Correia, Jorge; Baptista, Carlota; Machete, Madalena; Bizarro, Rita; Rato, João; Godinho, João; Teixeira, José Alberto; Passos-Coelho, José LuísIntroduction: Testicular germ cell tumors (TGCTs) are highly curable malignancies with long-term overall survival (OS) exceeding 90%. Thromboembolic (TE) events are a relevant treatment-related complication, reported in approximately 10% of patients. This study aimed to evaluate the incidence, risk factors, and prognostic impact of TE in TGCT. Methods: We performed a retrospective multicenter cohort study including 136 post-pubertal male patients with histologically confirmed TGCT treated between 2007 and 2021 at three Portuguese centers. The primary endpoint was to characterize the population of TGCT patients with TE. Secondary endpoints included TE incidence and its impact on OS and progression-free survival (PFS). Identification of clinical, pathological, and treatment-related factors associated with increased TE risk was an exploratory endpoint. Results: Seven patients (5.1%) developed a TE event, all in advanced/recurrent disease (14.6% in this subgroup). No TE occurred in stage I patients, including those treated with adjuvant chemotherapy. Visceral metastases (pulmonary and extra-pulmonary) and poor IGCCCG prognosis were associated with TE (p < 0.05). All TE patients had a central venous catheter (CVC), although only two had catheter-related thrombosis (p = 0.019). For advanced stages, survival outcomes did not differ significantly, with 5-year OS of 71.4% vs. 86.2% (p = 0.22) and PFS of 47.6% vs. 75.5% (p = 0.23) in TE versus non-TE groups, respectively. Most events (86%) occurred within 30 days of chemotherapy initiation, with pulmonary embolism as the most frequent presentation. Neither the Khorana nor the ONKOTEV scores predicted TE. Discussion: TE in TGCT occurred only in patients with advanced disease, was linked to tumor burden and CVC use, and was not predicted by current models. These findings highlight the need for TGCT-specific risk tools and prospective studies on risk-adapted prophylaxis.
- Importance of coronary artery lumen size in the relationship between coronary artery plaque and vessel-specific ischemia: a post hoc analysis of CREDENCE and PACIFIC-1Publication . CREDENCE and PACIFIC-1 Investigators; Marques, HugoBackground: While coronary artery plaque burden and stenosis are important for development of ischemia, the role of lumen size remains underexplored. This study evaluated the relationship between average lumen area (ALA) and vessel-specific ischemia beyond diameter stenosis (DS) and percent atheroma volume (PAV). Methods: This post-hoc analysis included coronary arteries from the CREDENCE (n ?= ?1716) and PACIFIC-1 (n ?= ?612) trials, involving patients with suspected stable coronary artery disease (CAD) who underwent coronary computed tomography angiography (CTA) and invasive fractional flow reserve (FFR) measurement. AI-enabled quantitative CTA was used to assess plaque burden and composition. Ischemia was defined as FFR?0.80. Each major coronary artery was analyzed. ALA was stratified into tertiles. Results: Larger ALA was associated with younger age, higher body mass index, and more nitrate use in both cohorts (all p ?< ?0.05). Increasing ALA correlated with lower diameter stenosis, reduced ischemia prevalence, and smaller plaque burden despite greater total plaque and non-calcified plaque volumes. In both cohorts, ischemia prevalence increased with stenosis severity, yet within each stenosis category, vessels with smaller ALA showed consistently higher ischemia rates. E.g., in CREDENCE vessels with 50 ?%–70 ?% stenosis, ischemia was observed in 60.0 ?% of small, 43.8 ?% of medium, and 27.8 ?% of large vessels (all p ?< ?0.05). Similar patterns were observed within PAV strata across all plaque subtypes. Multivariable analysis confirmed ALA independently associated with lower ischemia prevalence in both studies (both p ?< ?0.001). Conclusions: Coronary artery lumen size significantly attenuates the relationship between atherosclerosis/stenosis and ischemia. These findings support integrating lumen assessment in coronary CTA-based risk stratification.
- Caregiver perceptions of the impact and effect of family conferences for patients with complex and high-level palliative care needs: a cross-sectional survey studyPublication . Nascimento, Ana; Brandão-Silva, Joana; Cunha, Daniela; Ramos, Iliana; Pereira, Cristina; Semedo, Valéria; Andrade, José Paulo; Rocha-Neves, João; Dourado, Marília; Ribeiro, HugoIntroduction: Family conferences (FC) are a structured and therapeutic tool in palliative care, promoting effective communication between the healthcare team, patient and family. They are especially relevant for patients with high clinical complexity, both in hospital settings and in primary care. Objective: To evaluate caregivers’ perceptions of the impact of FC on patients cared for by palliative care teams and/or primary healthcare clinicians (PHC). This included measuring quality of care, communication effectiveness, interprofessional collaboration, successful implementation of care strategies, clarity of information received, and overall satisfaction and confidence. Secondary objectives were to assess caregivers’ perceptions of the importance of FCs for their knowledge and attitudes/skills, and to evaluate their perception of the overall quality of care provided to the patient, including the concordance between desired and actual place of death as an indicator of effective end-of-life planning. Methods: Observational, analytical and cross-sectional study, with application of a specific questionnaire to caregivers of patients followed by a community palliative care team and a family health team. Sociodemographic and clinical variables and perceptions of the impact of FC on the understanding of the disease and its trajectory, on satisfaction and on the feeling of security and trust were analysed. Results: The total sample included 38 caregivers, of whom 20 were accompanied by a team specialized in palliative care and 18 by a family health team. There was a high percentage of female caregivers (78.9%), with a mean age of 58.1 years, and the mean age of patients was 80.7 years. FC was associated with improved perception of communication (9.36 ± 0.65), collaboration (9.50 ± 0.86) and implementation of care strategies (9.45 ± 0.83). The presence of professionals such as social workers and psychologists in the FC of the palliative care team associated with greater family participation (p = 0.002) and greater perceived support (p = 0.001). Among the patients who died, there was a significant correspondence between the desired and actual place of death (p = 0.007), demonstrating FC as a potential effective instrument for planning. The presence of more family members in the FC correlated with greater hospital use in the previous month (p < 0.001) and with greater case complexity. Discussion: Despite being an exploratory study with inherent limitations, FCs were perceived as effective in improving communication, planning and aligning care with patient and family preferences. Their regular implementation, especially in PHC, should be promoted with multidisciplinary teams and specific training.
- CASPR2 autoimmune antibodies induce neuronal hyperactivity in human brain organoidsPublication . Cammarata, Giuseppe; Cardoso, Ana Luísa; Cardoso, Ana Maria; Carvalho, Ana Luísa; Coutinho, Ester; Fernandes, Dominique; Ferreira, Lino; Guedes, Joana; Leite, Maria Isabel; Oliveira, Ana Rafaela; Oliveira, Guiomar; Peça, João; Santos, Henrique J.; Santos, João Miguel Marques; Seabra, Catarina; Sequeira, DianaGestational transfer of brain-reactive antibodies is a risk factor for neurodevelopmental disorders. Contactin-associated protein-like 2 (CASPR2) is a known target for pathogenic maternal autoantibodies which have been proposed to interfere with fetal neurodevelopment. However, the impact of CASPR2 antibodies on human brain development remains largely unknown. Here, to better understand the neurophysiological changes that occur in the presence of these pathogenic autoantibodies, we cultured unguided human neural organoids for a period of 6-months in media containing anti-CASPR2 antibodies. We then performed neurophysiological characterization via whole-cell patch-clamp and calcium imaging in acute organoid slices. Our results reveal that CASPR2 antibody exposure increased spontaneous synaptic activity, enhanced the maximal frequency of action potential firing and of spontaneous network activity. These findings are consistent with a state of neuronal hyperexcitability, a phenotype which is observed in several models of neurodevelopmental disorders. Mechanistically, the alterations observed in action potential waveform are in accordance with a role for CASPR2 in the regulation of voltage-gated potassium channels and a pathological role for CASPR2 autoantibodies in driving neuronal hyperexcitability.
- The first year of generic non-vitamin K oral anticoagulants: implications for patients and the healthcare systemPublication . Sousa, Rita Barbosa; Oliveira, Afonso Félix de; Oliveira, Eduardo Infante de
- Managing schizophrenia with affective, sexual, metabolic and substance-use comorbidities: pharmacological considerations from an expert consensusPublication . Vieta, Eduard; Montejo, Ángel L.; Pillinger, Toby; Dell’Osso, Bernardo M.; Dimitraka, Maria; Farooq, Saeed; Jesus, Gustavo; Torres, Carlos Parro; Wobrock, Thomas; Pappa, SofiaBackground: Schizophrenia is a complex psychiatric disorder frequently complicated by comorbidities that contribute to functional impairment, poor treatment adherence, and elevated mortality. Among the most prevalent and burdensome are affective symptoms, sexual dysfunction, metabolic disturbances, and substance use disorders, which remain underrecognized and insufficiently addressed in routine care. Objectives: This expert consensus aimed to develop comorbidity-informed pharmacological strategies for schizophrenia, grounded in real-world challenges and individualized treatment needs. Methods: A multidisciplinary panel of 10 European psychiatrists convened for an in-person meeting. Four expert-led presentations, each addressing a key comorbidity, were followed by open discussion. A modified two-round Delphi process was subsequently used to validate the consensus statements, which were thematically synthesized into actionable recommendations. Results: Consensus-based recommendations were developed across four comorbidity domains, integrating current evidence with real-world clinical expertise. The panel emphasized the importance of individualized, patient-centered pharmacological strategies that balance efficacy, tolerability, and long-term functional outcomes. Partial dopamine agonists and other metabolically or hormonally favorable agents were identified as clinically useful across several comorbid profiles. Recommendations also addressed the optimization of antipsychotic selection, management of treatment-emergent side effects, and coordinated care for patients with dual diagnosis (also referred to as co-occurring disorders). Measurement-based monitoring and integrated service models were consistently highlighted as essential for improving outcomes. Conclusions: Effective management of schizophrenia requires a shift toward comorbidity-informed, recovery-oriented pharmacological care. These expert recommendations provide practical strategies to support individualized treatment planning in real-world clinical settings.
- The individual music-centered Assessment Profile for Neurodevelopmental Disorders (IMCAP-ND) for use in Portugal: translation and psychometric evidencePublication . Raposo, Marisa M.; Gattino, Gustavo Schulz; Leite, Teresa; Castro-Caldas, AlexandreThere is a comprehensive need for music-centred assessment tools as specific outcome measures of music therapy efficacy for people with neurodevelopmental disorders (NDD), namely, autism spectrum disorders (ASD), as music facilitates communicative and social skills of these individuals and allows unique ways to assess their particular deficits. This research explored the initial psychometric properties of the Individual Music-Centered Assessment Profile for Neurodevelopmental Disorders’ European Portuguese version (IMCAP-NDPT), by examining 1) translation and adaptation, 2) inter-rater reliability, 3) test-retest reliability and 4) criterion and convergent validity. Study I had a sample of 87 children aged between 21 and 91 months, 30 of them with neurotypical development and 57 with several neurodevelopmental disorders, while studies II, III and IV had autistic children aged between 26 and 65 months (n = 10, n = 12 and n = 11, respectively). The translated and transculturally adapted version of IMCAP-NDPT seemed adequate for its purposes. This outcome measure obtained statistical significance when differentiating between groups with and without pathology. Findings also revealed a moderate / satisfactory test-retest repeatability (95% CI – CCI = .424 p= .022 ranging to CCI= .791 p= .000) and solid interobserver agreement (95% CI – ICC from .924 to .996 single measures p = .000, (?) between two raters ranging from .81 to 1.00 in 63 of 109 items of the three scales as well as Pearson’s r ranged between .7 and .9; ? = .997). Regarding criterion and convergent validity, positive significant correlations were found between several Musical Emotional Assessment Rating Scale (MEARS) and Musical Cognitive/Perception Scale (MCPS) items and totals and the Griffiths Mental Development Scales (GMDS) domains, varying from .60 to .90; no negative or null correlations were found. The results showed a noticeable level of inter-rater reliability as well as a good internal consistency. Thus, the IMCAP-ND Portuguese version can be used more confidently in clinical practice; nevertheless, future studies are recommended with a larger sample.
- Cardiovascular prevention: current gaps and future directionsPublication . Dores, Hélder; Santos, José Ferreira; Gil, Victor; Gonçalves, Pedro de AraújoCardiovascular Disease (CVD) remains the leading cause of morbidity and mortality worldwide. Despite significant advances in diagnosis and treatment, the global burden of CVD remains high, underscoring the crucial need for more effective and comprehensive prevention strategies. This narrative overview aims to critically evaluate the current pillars of cardiovascular prevention, identify the gaps in approaches and outline promising future directions. Challenges and barriers in lifestyle adherence and pharmacological management are addressed, while the increasing role of non-traditional and emerging risk factors is discussed. Future directions include maximizing the value of digital health to improve patient engagement and adherence, adopting precision medicine to refine risk stratification and implementing public health policies for population-level interventions. The optimization of cardiovascular prevention requires a multi-level approach that integrates clinical strategies with personalized solutions and environmental policies to ultimately reduce the global impact of CVD.
- Diagnostic performance of a novel AI-guided coronary computed tomography algorithm for predicting myocardial ischemia (AI-QCTISCHEMIA) across sex and age subgroupsPublication . Kamila, Putri Annisa; Hojjati, Tara; Nurmohamed, Nick S.; Danad, Ibrahim; Ding, Yipu; Jukema, Ruurt A.; Raijmakers, Pieter G.; Driessen, Roel S.; Bom, Michiel J.; van Diemen, Pepijn; Pontone, Gianluca; Andreini, Daniele; Chang, Hyuk Jae; Katz, Richard J.; Choi, Andrew D.; Knaapen, Paul; Bax, Jeroen J.; van Rosendael, Alexander; Heo, Ran; Park, Hyung Bok; Marques, Hugo; Stuijfzand, Wijnand J.; Choi, Jung Hyun; Doh, Joon Hyung; Her, Ae Young; Koo, Bon Kwon; Nam, Chang Wook; Shin, Sang Hoon; Cole, Jason; Gimelli, Alessia; Khan, Muhammad Akram; Lu, Bin; Gao, Yang; Nabi, Faisal; Al-Mallah, Mouaz H.; Nakazato, Ryo; Schoepf, U. Joseph; Thompson, Randall C.; Jang, James J.; Ridner, Michael; Rowan, Chris; Avelar, Erick; Généreux, Philippe; de Waard, Guus A.Background AI-QCTISCHEMIA is a novel artificial intelligence algorithm that predicts myocardial ischemia using quantitative features from coronary computed tomography angiography, providing a noninvasive alternative to functional imaging. However, its diagnostic performance across key demographic subgroups, particularly by sex and age, remains underexplored. We aimed to evaluate the diagnostic performance of AI-QCTISCHEMIA for predicting myocardial ischemia across these subgroups. Methods This post-hoc analysis included symptomatic patients with suspected coronary artery disease from the CREDENCE (Computed Tomographic Evaluation of Atherosclerotic Determinants of Myocardial Ischemia) (n = 305; 868 vessels) and PACIFIC-1 (Comparison of Coronary Computed Tomography Angiography, Single Photon Emission Computed Tomography [SPECT], Positron Emission Tomography [PET], and Hybrid Imaging for Diagnosis of Ischemic Heart Disease Determined by Fractional Flow Reserve) (n = 208; 612 vessels) studies. All patients underwent coronary computed tomography angiography, myocardial perfusion imaging (SPECT and/or PET), and invasive coronary angiography with 3-vessel fractional flow reserve as the reference standard. Diagnostic performance was evaluated at the vessel level using receiver operating characteristic analysis and under the curve (AUC), stratified by sex and age groups. Results In computed tomographic evaluation of atherosclerotic determinants of myocardial ischemia, AI-QCTISCHEMIA demonstrated higher diagnostic performance than myocardial perfusion imaging, with AUCs of 0.87 vs 0.63 in men and 0.85 vs 0.71 in women ( P < .001 for both). Similarly, in older (?65 years) and younger (<65 years) patients, AUCs were 0.85 vs 0.67 and 0.87 vs 0.63 ( P < .001 for both). In PACIFIC-1, AI-QCTISCHEMIA outperformed SPECT in men (AUC = 0.86 vs 0.67; P < .001) and women (0.81 vs 0.65; P < .001) while performing comparably with PET (0.86 vs 0.82; P = .140; 0.81 vs 0.72; P = .214). In older patients, AI-QCTISCHEMIA showed higher performance than SPECT (0.85 vs 0.73; P < .001) and was similar to PET (0.85 vs 0.86; P = .816). In younger patients, it also outperformed SPECT (0.87 vs 0.66; P < .001) with comparable performance with PET (0.87 vs 0.84; P = .338). Conclusions AI-QCTISCHEMIA demonstrated consistently high diagnostic performance to detect myocardial ischemia across sex and age groups, significantly outperforming SPECT and showing comparable performance with PET, supporting its role as a noninvasive alternative for ischemia assessment.
- Prognostic value of aI-based quantitative coronary CTA vs human reader-based visual assessment: results from the CONFIRM2 registryPublication . Rosendael, Alexander van; Nakanishi, Rine; Bax, Jeroen J.; Pontone, Gianluca; Mushtaq, Saima; Buechel, Ronny R.; Gräni, Christoph; Feuchtner, Gudrun; Lacaita, Pietro G.; Patel, Amit R.; Singulane, Cristiane C.; Choi, Andrew D.; Al-Mallah, Mouaz; Andreini, Daniele; Karlsberg, Ronald P.; Cho, Geoffrey W.; Rochitte, Carlos E.; Alasnag, Mirvat; Hamdan, Ashraf; Cademartiri, Filippo; Maffei, Erica; Marques, Hugo; Gonçalves, Pedro de Araújo; Gupta, Himanshu; Hadamitzky, Martin; Khalique, Omar; Kalra, Dinesh; Mills, James D.; Nurmohamed, Nick S.; Knaapen, Paul; Budoff, Matthew; Shaikh, Kashif; Martin, Enrico; German, David M.; Ferencik, Maros; Oehler, Andrew C.; Deaño, Roderick; Nagpal, Prashant; Assen, Marly van; Cecco, Carlo N. de; Kamperidis, Vasileios; Foldyna, Borek; Brendel, Jan M.; Cheng, Victor Y.; Branch, Kelley R.; Bittencourt, Marcio; Bhatti, Sabha; Polsani, Venkateshwar; Wesbey, George; Cardoso, Rhanderson; Blankstein, Ron; Delago, Augustin; Pursnani, Amit; Alsaid, Amro; Singh, Vasvi; Aquino, Melissa; Park, Jisuk; Danad, IbrahimBackground: The severity and extent of whole heart coronary plaque volume and stenosis can be reliably measured by artificial intelligence–guided quantitative coronary computed tomography angiography (AI-QCT). Limited data are available on the potential incremental prognostic value compared with currently recommended qualitative coronary computed tomography angiography (CTA) reads and the coronary artery calcium score (CACS). Objectives: The aim of this study was to evaluate the prognostic value of AI-QCT compared with human coronary CTA reads, including the CAD-RADS (Coronary Artery Disease–Reporting and Data System), CACS, and the modified Duke Index. Methods: CONFIRM2 (Quantitative COroNary CT Angiography Evaluation For Evaluation of Clinical Outcomes: An InteRnational, Multicenter Registry) is a multicenter, international, observational cohort study of patients undergoing clinically indicated coronary CTA with follow-up for major adverse cardiac events (MACE). Asymptomatic patients and those with cardiac history were excluded. Coronary artery disease presence, extent, and composition were quantified by AI-QCT across the coronary tree, yielding 24 patient-, vessel-, and plaque-level variables. On the basis of prior analyses, noncalcified plaque burden and diameter stenosis were identified as the strongest predictors and combined for statistical modeling as “AI-QCT.” Comparator computed tomography scores included CAD-RADS, CACS, and the modified Duke Index, whereas clinical predictors were summarized in the risk factor–weighted clinical likelihood score. Area under the curve (AUC) and continuous net reclassification index (NRI) were calculated to assess the incremental value. The primary endpoint was MACE (death, myocardial infarction [MI], stroke, heart failure, late revascularization, or hospital stay for unstable angina), and the secondary endpoint was death or MI. Results: In 1,916 patients with all risk scores available, 87 (4.5%) MACE and 27 (1.4%) death/MI events occurred during 3 years of follow-up. There was a stepwise risk increase with higher coronary artery disease classifications with CAD-RADS and CACS. The addition of AI-QCT significantly improved risk stratification for MACE compared with CAD-RADS (AUC: 0.81 vs 0.79; P < 0.001 and NRI: 0.47; P < 0.001), CACS (AUC: 0.79 vs 0.70; P < 0.001 and NRI 0.61; P < 0.001), the modified Duke Index (AUC: 0.81 vs 0.76; P < 0.001 and NRI: 0.52; P < 0.001), and CAD-RADS + CACS model (AUC: 0.81 vs 0.79; P = 0.004 and NRI: 0.54; P < 0.001). AI-QCT also improved discrimination when results were adjusted for the risk factor–weighted clinical likelihood and for the prediction of death/MI. Excluding 195 patients with severe stenosis (?70%), in a multivariable model of CAD-RADS and AI-QCT, only AI-QCT was significantly associated with MACE and death/MI, and AI-QCT significantly improved risk stratification compared with CAD-RADS for MACE (AUC: 0.77 vs 0.72; P < 0.001 and NRI: 0.54; P < 0.001) and death/MI (AUC: 0.81 vs 0.73; P = 0.011 and NRI: 0.69; P = 0.001). Conclusions: AI-QCT provided incremental prognostic information compared with CAD-RADS 2.0, CACS, and the modified Duke Index for the prediction of MACE as well as the secondary endpoint of death or nonfatal MI.