Céu Mateus

Background: Hereditary cancer syndromes account for approximately 10% of all cancers. Many of these, classified as rare tumor risk syndromes (RTRS), lack comprehensive data on natural history, lifetime cancer risk, and the long-term impact of surveillance. These evidence gaps limit the development of decision-analytic disease progression models and cost-effectiveness analyses needed to support healthcare decision-making. Objective: To map the available evidence on the natural history, cancer risk, and surveillance strategies in selected RTRS to inform disease progression models and future economic evaluations. Methods: A scoping review was conducted on 8 RTRS: Birt-Hogg-Dubé syndrome, familial gastrointestinal stromal tumor, familial melanoma, hereditary diffuse gastric cancer, hereditary leiomyomatosis and renal cell cancer, Li-Fraumeni syndrome, Peutz-Jeghers syndrome, and PTEN hamartoma tumor syndrome. Systematic searches of PubMed, Embase, and relevant gray literature sources were performed between April and June 2026 for studies published since 2010. Results: After screening 16 631 records, 80 studies were included in the review. Findings indicate significant heterogeneity in data availability and surveillance effectiveness. Some RTRS have relatively well-defined surveillance recommendations, whereas others remain poorly characterized. Across studies, cancer incidence was markedly higher and occurred earlier than in the general population, with lifetime cancer risks approaching 100% in certain syndromes. However, only 44% of studies reported follow-up protocols and fewer than 12% compared surveillance with expectant management. Limited data on postdiagnosis survival further complicates economic evaluations of alternative care strategies. Conclusions: The evidence base for RTRS is heterogeneous, particularly regarding longitudinal outcomes and comparative surveillance strategies. These limitations restrict the parameterization of disease progression models and the evaluation of the cost-effectiveness of surveillance strategies, leaving substantial uncertainty about optimal management strategies. Significant evidence gaps remain in the natural history and management of RTRS. This review provides a foundation for future cost-effectiveness analyses by mapping existing evidence and identifying critical knowledge gaps in RTRS care.

Background: Hereditary cancer syndromes account for approximately 10% of all cancers. Many of these, classified as rare tumor risk syndromes (RTRS), lack comprehensive data on natural history, lifetime cancer risk, and the long-term impact of surveillance. These evidence gaps limit the development of decision-analytic disease progression models and cost-effectiveness analyses needed to support healthcare decision-making. Objective: To map the available evidence on the natural history, cancer risk, and surveillance strategies in selected RTRS to inform disease progression models and future economic evaluations. Methods: A scoping review was conducted on 8 RTRS: Birt-Hogg-Dubé syndrome, familial gastrointestinal stromal tumor, familial melanoma, hereditary diffuse gastric cancer, hereditary leiomyomatosis and renal cell cancer, Li-Fraumeni syndrome, Peutz-Jeghers syndrome, and PTEN hamartoma tumor syndrome. Systematic searches of PubMed, Embase, and relevant gray literature sources were performed between April and June 2026 for studies published since 2010. Results: After screening 16 631 records, 80 studies were included in the review. Findings indicate significant heterogeneity in data availability and surveillance effectiveness. Some RTRS have relatively well-defined surveillance recommendations, whereas others remain poorly characterized. Across studies, cancer incidence was markedly higher and occurred earlier than in the general population, with lifetime cancer risks approaching 100% in certain syndromes. However, only 44% of studies reported follow-up protocols and fewer than 12% compared surveillance with expectant management. Limited data on postdiagnosis survival further complicates economic evaluations of alternative care strategies. Conclusions: The evidence base for RTRS is heterogeneous, particularly regarding longitudinal outcomes and comparative surveillance strategies. These limitations restrict the parameterization of disease progression models and the evaluation of the cost-effectiveness of surveillance strategies, leaving substantial uncertainty about optimal management strategies. Significant evidence gaps remain in the natural history and management of RTRS. This review provides a foundation for future cost-effectiveness analyses by mapping existing evidence and identifying critical knowledge gaps in RTRS care.

Background: Hyperkalaemia is a common complication among patients with predialysis chronic kidney disease (CKD) and a leading reason for modifying or discontinuing renin–angiotensin–aldosterone system inhibitor (RAASi) therapy despite its proven cardiorenal benefits. Although newer potassium binders may improve potassium control while enabling RAASi use, real clinical practice remains poorly characterised. This study explored how nephrologists in Spain manage hyperkalaemia in patients with predialysis CKD (stages 3–5), with particular emphasis on RAASi continuation. Methods: Semi-structured interviews were conducted with 12 practising nephrologists across Spain who routinely manage hyperkalaemia in patients with predialysis CKD. Interviews were transcribed verbatim and analysed using ATLAS.ti. A codebook-based thematic analysis was performed, with codes iteratively refined into 15 sub-themes and grouped into five overarching themes. Results: Five themes were identified: (1) hyperkalaemia was managed using a structured clinical algorithm incorporating dietary, metabolic, diuretic, and pharmacological strategies, to preserve RAASi therapy where possible; (2) newer potassium binders (patiromer and sodium zirconium cyclosilicate) were viewed as effective and better tolerated than traditional resins, supporting greater RAASi continuity; (3) system-level barriers, including visado requirements, regional formulary variation, and fragmented communication across specialties, limited timely use of newer binders were perceived to contribute to RAASi discontinuation; (4) patient engagement, underpinned by clear communication, trust, and nursing-led education, facilitated adherence, although clinician-level nutrition expertise varied; and (5) hyperkalaemia management affected patients’ daily functioning and emotional well-being, yet formal assessment of health-related quality of life (HRQoL) was infrequent. Conclusions: Nephrologists in Spain prioritised preservation of RAASi therapy when managing hyperkalaemia in predialysis CKD. Although newer potassium binders supported this objective, their use was limited by access and care coordination challenges. Streamlined access pathways, improved multidisciplinary communication, and routine HRQoL assessments may enable more patient-centred and guideline-concordant care. These implications reflect qualitative clinician perspectives rather than evidence of clinical or economic effectiveness.

Introduction: Economic evaluation supports public funding decisions about the use of health technologies within the Portuguese National Health System (NHS). The methods guide for economic evaluation in Portugal serves both companies preparing economic evaluation submissions and the independent commission appraising the evidence submitted. Methods: This article presents the revised methods guide for economic evaluation in Portugal. The revisions reflect advances in economic evaluation, updates to regulatory policies, and responses to the evolving economic context. The paper highlights the most significant changes to the guidance, comparing the new Portuguese guidelines to those from the United Kingdom and Canada. The discussion is framed around key comments received during public consultation. Results: The updated guidelines recommend cost-effectiveness analyses based on quality-adjusted life years and advocate for long-term modelling, a 4 percent discount rate, and a focus on NHS costs. New features include guidance on the identification and management of uncertainty within a dynamic appraisal process with regular contract negotiations (which can trigger reappraisals). The guide also covers how cost-effectiveness models, typically centrally developed, should be adapted to the Portuguese context. It highlights the key role of structured expert elicitation to address uncertainties in evidence, including those related to model adaptation. Conclusions: The revision was developed through stakeholder consultations and aligns with international best practices, offering more explicit and transparent methods to support health resource allocation decisions.

Introduction: Receptive anal intercourse (RAI) is an increasingly reported sexual practice across diverse populations and carries a higher risk of certain health consequences, including HIV and other sexually transmitted infections, anal trauma and anorectal disorders, compared with vaginal intercourse. Despite these risks, research exploring women’s experiences, motivations and perceptions of RAI remains limited. Much of the existing literature has focused on gay and bisexual men, leaving women’s perspectives comparatively underexamined and their ability to make fully informed sexual-health decisions constrained by this evidence gap. Objectives: This qualitative systematic review and thematic synthesis aimed to explore women’s perceptions, motivations and experiences of RAI, including how societal attitudes and gender dynamics shape these experiences. Methods: A qualitative systematic review and thematic analysis was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Searches of PubMed, PsycINFO, CINAHL and Embase identified peer-reviewed qualitative studies published between January 2010 and June 2025 that examined women’s views and experiences of RAI. The Sample, Phenomenon of Interest, Design, Evaluation, Research type framework guided study selection, and data extraction captured study characteristics and verbatim qualitative findings for synthesis. Results: 22 studies encompassing 593 women across 12 countries were included. Participants represented diverse ages (14–84 years) and socioeconomic backgrounds. Three overarching themes emerged: (1) motivations for engaging in RAI, often linked to partner expectations, intimacy or curiosity; (2) experiences, spanning pain, discomfort and coercion, but also instances of pleasure and agency and (3) societal views, which reflected both normalisation and enduring stigma. Women’s accounts revealed that RAI is negotiated within relational and cultural constraints, where agency and coercion, pleasure and pain, frequently coexist rather than oppose one another. Conclusions: Women’s experiences of RAI reveal a complex interplay between sexual agency, bodily autonomy and social meaning. Recognising that pleasure and discomfort can coexist and that decisions are often shaped by relational and cultural dynamics highlights the need for open, non-judgemental discussion of RAI within sexual-health education and clinical practice. Addressing stigma and providing evidence-based guidance can support informed, consensual and safe sexual decision-making for women.

Cisheteronormativities inform and distort what LGBTQ+ young people’s bodies can be and do, and what choices about the body are possible, profoundly impacting mental health. This article presents findings from a UK study examining ‘what works’ in early intervention mental health support for LGBTQ+ youth to examine how these impacts can be addressed. Data were collected across 12 mental health support services via the following: interviews with LGBTQ+ youth aged 12–25, service staff/volunteers, and parents/carers (n = 93); document review; and non-participant observation. In analysis, ‘Body’ was identified as a key principle underpinning effective early intervention mental health support. This article presents three key areas: the ability to name and define the body; the body’s ability to ‘do’; and the ability to make informed decisions about one’s body, life, and future. This article highlights the urgent importance of upholding bodily autonomy for LGBTQ+ youth if efforts to address mental health inequalities are to have any chance at success.

Background: Procalcitonin is a biomarker specific for bacterial infection, with a more rapid response than other commonly used biomarkers, such as C-reactive protein, but it is not routinely used in the National Health Service. Objective: To determine if using a procalcitonin-guided algorithm may safely reduce duration of antibiotic therapy compared to standard of care in hospitalised children with suspected or confirmed infection. Design: A pragmatic, multicentre, open-label, parallel two-arm, individually randomised controlled trial with internal pilot phase, qualitative study and health economic evaluations. Setting: Paediatric wards or paediatric intensive care units within children’s hospitals (n = 6) and district general hospitals (n = 9) in the United Kingdom. Participants: Children aged between 72 hours and 18 years admitted to hospital and being treated with intravenous antibiotics for suspected or confirmed bacterial infection. Interventions: Procalcitonin-guided algorithm versus usual standard care alone. Main outcome measures: Coprimary outcomes were duration of intravenous antibiotic use and a composite safety measure. Results: Between 11 June 2018 and 12 October 2022, 1949 children were recruited: 977 to the procalcitonin group [427 female (43.7%), 550 male (56.3%)], and 972 to the usual care group [478 female (49.2%), 494 male (50.8%)]. Duration of intravenous antibiotics was not significantly different between the procalcitonin group (median 96.0 hours) and the usual care group (median 99.7 hours) [hazard ratio = 0.96 (0.87, 1.05)], and the procalcitonin-guided algorithm was non-inferior to usual care [risk difference = −0.81% (95% confidence interval upper bound 1.11%)]. At clinical review, a procalcitonin result was available for 81.8% of the time, which was considered as part of clinical decision-making 66.6% of the time, and the algorithm was adhered to 57.2% of the time. Incremental cost-effectiveness ratio per duration of intravenous antibiotics hour avoided from bootstrapped samples was £467.62 per intravenous antibiotic hour avoided. Cost analysis of complete cases was also higher in the procalcitonin arm for all age groups, and for children aged 5 years and over. The intervention is not cost-effective as it is more expensive with no significant improvement in intravenous antibiotic duration. Limitations: Robust antimicrobial stewardship programmes were already implemented in the lead recruiting sites, and adherence to the algorithm was poor. Clinicians may be reluctant to adhere to biomarker-guided algorithms, due to unfamiliarity with interpreting the test result. Conclusions: In children hospitalised with confirmed or suspected bacterial infection, the addition of a procalcitonin-guided algorithm to usual care is non-inferior in terms of safety, but does not reduce duration of intravenous antibiotics, and is not cost-effective. In the presence of robust antimicrobial stewardship programmes to reduce antibiotic use, a procalcitonin-guided algorithm may offer little added value. Future work: Future trials must include an implementation framework to improve trial intervention fidelity, and repeated cycles of education and training to facilitate implementation of biomarker-guided algorithms into routine clinical care. Trial registration: This trial is registered as ISRCTN11369832. Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: 15/188/42) and is published in full in Health Technology Assessment; Vol. 29, No. 16. See the NIHR Funding and Awards website for further award information.