Rare diseases in Europe: the Portuguese framework

A EUCERD Joint Action (EJA) para as Doenças Raras (DR) integrou cinco domínios: planos nacionais e estratégias, nomenclatura internacional para DR, serviços sociais especializados, qualidade dos cuidados/centros de referência e integração de iniciativas em DR. O objetivo deste artigo é descrever o enquadramento português nas DR. Em novembro de 2014 foi realizado um workshop em Portugal com oito países participantes. Foi descrita a situação europeia para as DR e comparada com a realidade portuguesa. Estiveram presentes: autoridades europeias, parceiros da EJA, especialistas, investigadores, profissionais de saúde e associações de doentes. Realizou-se uma análise qualitativa dos conteúdos das apresentações, posteriormente atualizada através de análise documental. No domínio dos planos e estratégias foi aprovada a Estratégia Integrada para as Doenças Raras 2015-2020 que assenta numa cooperação interministerial, intersectorial e interinstitucional. Em relação à nomenclatura, foi discutida e proposta a utilização do Orphanumber. Foram descritas várias iniciativas no âmbito das DR e observados exemplos de boas práticas na área dos serviços socias especializados. Recentemente, Portugal reconheceu oficialmente vários Centros de Referência Nacionais, onde se incluem alguns para as DR. Em conclusão, Portugal tem vindo a desenvolver diversas atividades no domínio das DR sendo necessário continuar com a integração das mesmas.The EUCERD Joint Action (EJA) for Rare Diseases (RD) consists of five domains: national plans and strategies, international RD nomenclatures, specialized social services, quality of care/centres of expertise and integration of RD initiatives. This article intends to provide the Portuguese situation on RD. In November 2014, a workshop was held in Portugal and included participants from eight different countries. The European stateof- art in every domain was counterbalanced with the Portuguese reality. European authorities, EJA’s partners, experts, researchers, health care professionals and patients’ representatives were present. A qualitative data analysis of the presentations’ contents was performed and updated documental analysis. Concerning plans and strategies, a National Integrated Strategy 2015-2020, based on an inter-ministerial/sectoral/institutional cooperation, using medi cal, social, scientific and technological resources, for RD was approved. Regarding nomenclature, health professionals use different coding systems. A proposal for the ORPHA number system to be adopted in disease nomenclature was discussed. Among specialized social services, good practices examples were described and RD initiatives were observed. Finally, just recently, Portugal recognized officially national Reference Centres which include some for RD. In conclusion, regarding the different domains of RD, Portugal has been developing several activities and its integration needs to continue

Annual national direct and indirect cost estimates of the prevention and treatment of cervical cancer in Brazil

OBJECTIVE: To estimate the annual direct and indirect costs of the prevention and treatment of cervical cancer in Brazil. METHODS: This cost description study used a "gross-costing" methodology and adopted the health system and societal perspectives. The estimates were grouped into sets of procedures performed in phases of cervical cancer care: the screening, diagnosis and treatment of precancerous lesions and the treatment of cervical cancer. The costs were estimated for the public and private health systems, using data from national health information systems, population surveys, and literature reviews. The cost estimates are presented in 2006 USD. RESULTS: From the societal perspective, the estimated total costs of the prevention and treatment of cervical cancer amounted to USD $1,321,683,034, which was categorized as follows: procedures (USD$213,199,490), visits (USD $325,509,842), transportation (USD$106,521,537) and productivity losses (USD $676,452,166). Indirect costs represented 51% of the total costs, followed by direct medical costs (visits and procedures) at 41% and direct non-medical costs (transportation) at 8%. The public system represented 46% of the total costs, and the private system represented 54%. CONCLUSION: Our national cost estimates of cervical cancer prevention and treatment, indicating the economic importance of cervical cancer screening and care, will be useful in monitoring the effect of the HPV vaccine introduction and are of interest in research and health care management

The Usefulness of Inflammatory Biomarkers to Predict Anastomotic Leakage after Colorectal Surgery: Systematic Review and Meta-Analysis

Aim: Anastomotic leakage (AL) is a severe postoperative complication in colorectal surgery, but its preclinical diagnosis may improve outcomes and increase anastomotic salvage. This study aimed to assess the added value of serum biomarkers for early detection of colorectal AL. Method: We performed a comprehensive literature review, and a qualitative and quantitative analysis of papers retrieved from MEDLINE, Embase, PubMed, Web of Science, Scopus and the Cochrane Library. We included all studies published before September 2021 assessing the serum biomarkers white blood cells (WBC), C-reactive protein (CRP), procalcitonin (PCT) and calprotectin (CLP) for the early diagnosis of AL. Results: Fifteen studies that evaluated three different systemic biomarkers in the context of AL were identified, including 5150 patients. Diagnostic test accuracy was estimated for CRP and PCT. On postoperative day (POD) 5, the highest AUC (87.1%) and specificity (80.2%) values were estimated for CRP. Random-effects meta-analysis and total effect sizes estimation for the biomarkers CRP, PCT and WBC were performed according to POD. The concentration of serum biomarkers is significantly higher in patients presenting AL. Regarding the qualitative analysis, there was significant heterogeneity in the inclusion of different subcategories of the consensus definition of colorectal AL in each paper’s definition. Conclusion: The serum biomarkers CRP and PCT are moderate predictors for AL, showing a high heterogeneity among the studies. Combinations of these biomarkers might improve predictive accuracy, but more studies will be necessary to conduct a quality metaregression.info:eu-repo/semantics/publishedVersio

AlergiaPT: A Portuguese media campaign to inspire people with allergies to make a positive change in their life

Allergic diseases comprise a significant cause of morbidity worldwide and a substantial burden on the health and medical systems of both developed and emerging economies. Although highly prevalent, relatively severe, and largely impactful on the quality of life of patients, allergic diseases are commonly trivialized. Increasing awareness of the relevance of allergic diseases as a major public health problem might lead to an improved acknowledgment by governments and health authorities. Based on the positive impact that media campaigns might have on health-related behaviors, as well as the large use of social media by different types of users, social media might be used as a powerful tool for spreading awareness and education even more effective than traditional face-to-face communication. Therefore, we aimed to develop a social media-based communication program, the AlergiaPT, reaching all stakeholders, to increase the awareness of allergic diseases tackling the causes, prevention, control, and economic impact. The AlergiaPT will provide user-generated and interactive content toward engagement, include both long-form and short-form video productions toward education, as well as stories and time-sensitive content toward empowerment. It will be targeted to all populations, engaging different stakeholders. Contents will address the 5 campaign goals: i) allergy health is promoted; ii) tolerance is actively reinforced, and avoidance reduced; iii) treatment control and guided self-management of patients of asthma, rhinitis, food allergy, and atopic eczema are strengthened; iv) recognition and treatment of severe allergy and anaphylaxis are improved, and v) indoor air quality is promoted. Engagement on the campaign will be promoted through stepwise educational takeaways meetings using different social media, and targeting all audience groups, by promoting the organization of resources for common goals and the involvement of social media to improve public awareness. The impact of AlergiaPT will be assessed through google analytics

Cost-effectiveness analysis of introducing universal human papillomavirus vaccination of girls aged 11 years into the National Immunization Program in Brazil.

OBJECTIVES: To evaluate the impact and cost-effectiveness of introducing universal human papillomavirus (HPV) vaccination into the National Immunization Program (NIP) in Brazil. METHODS: The Excel-based CERVIVAC decision support model was used to compare two strategies: (1) status quo (with current screening program) and (2) vaccination of a cohort of 11-year-old girls. National parameters for the epidemiology and costs of cervical cancer were estimated in depth. The estimates were based on data from the health information systems of the public health system, the PNAD 2008 national household survey, and relevant scientific literature on Brazil. Costs are expressed in 2008 United States dollars (US$), and a 5$ 7663), health system (US$7412), and society (US$ 7298) would be considered cost-effective, according to the parameters adopted by the World Health Organization. In the sensitivity analysis, the ICERs were most sensitive to variations in discount rate, disease burden, vaccine efficacy, and proportion of cervical cancer caused by types 16 and 18. However, universal HPV vaccination remained a cost-effective strategy in most variations of the key estimates. CONCLUSIONS: Vaccine introduction could contribute additional benefits in controlling cervical cancer, but it requires large investments by the NIP. Among the essential conditions for attaining the expected favorable results are immunization program sustainability, equity in a population perspective, improvement of the screening program, and development of a surveillance system

Usefulness of serum C-reactive protein and calprotectin for the early detection of colorectal anastomotic leakage: A prospective observational study

Supported by the Ministry of Health – Incentive Program for the Integration of Care and Valuation of Patients’ Pathways in the National Health Service of Portugal.BACKGROUND: Colorectal anastomotic leakage (CAL) is one of the most dreaded complications after colorectal surgery, with an incidence that can be as high as 27%. This event is associated with increased morbidity and mortality; therefore, its early diagnosis is crucial to reduce clinical consequences and costs. Some biomarkers have been suggested as laboratory tools for the diagnosis of CAL. AIM: To assess the usefulness of plasma C-reactive protein (CRP) and calprotectin (CLP) as early predictors of CAL. METHODS: A prospective monocentric observational study was conducted including patients who underwent colorectal resection with anastomosis, from March 2017 to August 2019. Patients were divided into three groups: G1 – no complications; G2 – complications not related to CAL; and G3 – CAL. Five biomarkers were measured and analyzed in the first 5 postoperative days (PODs), namely white blood cell (WBC) count, eosinophil cell count (ECC), CRP, CLP, and procalcitonin (PCT). Clinical criteria, such as abdominal pain and clinical condition, were also assessed. The correlation between biomarkers and CAL was evaluated. Receiver operating characteristic (ROC) curve analysis was used to compare the accuracy of these biomarkers as predictors of CAL, and the area under the ROC curve (AUROC), specificity, sensitivity, positive predictive value, and negative predictive value (NPV) during this period were estimated. RESULTS: In total, 25 of 396 patients developed CAL (6.3%), and the mean time for this diagnosis was 9.0 ± 6.8 d. Some operative characteristics, such as surgical approach, blood loss, intraoperative complications, and duration of the procedure, were notably related to the development of CAL. The length of hospital stay was markedly higher in the group that developed CAL compared with the group with complications other than CAL and the group with no complications (median of 21 d vs 13 d and 7 d respectively; P < 0.001). For abdominal pain, the best predictive performance was on POD4 and POD5, with the largest AUROC of 0.84 on POD4. Worsening of the clinical condition was associated with the diagnosis of CAL, presenting a higher predictive effect on POD5, with an AUROC of 0.9. WBC and ECC showed better predictive effects on POD5 (AUROC = 0.62 and 0.7, respectively). Those markers also presented a high NPV (94%-98%). PCT had the best predictive effect on POD5 (AUROC = 0.61), although it presented low accuracy. However, this biomarker revealed a high NPV on POD3, POD4, and POD5 (96%, 95%, and 96%, respectively). The mean CRP value on POD5 was significantly higher in the group that developed CAL compared with the group without complications (195.5 ± 139.9 mg/L vs 59.5 ± 43.4 mg/L; P < 0.00001). On POD5, CRP had a NPV of 98%. The mean CLP value on POD3 was significantly higher in G3 compared with G1 (5.26 ± 3.58 μg/mL vs 11.52 ± 6.81 μg/mL; P < 0.00005). On POD3, the combination of CLP and CRP values showed a high diagnostic accuracy (AUROC = 0.82), providing a 5.2 d reduction in the time to CAL diagnosis. CONCLUSION: CRP and CLP are moderate predictors of CAL. However, the combination of these biomarkers presents an increased diagnostic accuracy, potentially decreasing the time to CAL diagnosis.info:eu-repo/semantics/publishedVersio

Bridging Health and Social Care with the Citizens – The Case of EIT Health Project “Healiqs4cities” and “Praça Vida+”, in Portugal

The global burden of population ageing imposes the need of innovative care models and good practices to ensure the sustainability of health and social care support, as well as optimal quality of life of the citizens. Science and technology-based innovation is required to be cross-fertilized with co-creation strategies, involving different stakeholders and the citizens. Health literacy is a crucial component of this challenge, including instruments focused on better training of formal and informal caregivers and citizen’s empowerment towards healthy lifestyles. In the present paper, we highlight the implementation of two EIT Health projects, Healiqs4cities and CARE Campus, and one event, Praça Vida+, as good examples of the interdisciplinary approach to develop innovative good practices, science outreach and innovative ICT-based training schemes for care providers. Moreover, we identify the European Innovation Partnership on Active and Healthy Ageing Reference Sites and the Reference Site Collaborative Network as quadruple helix-based ecosystems ideally positioned to inspire other European regions and their decision makers for large adoption of innovative practices and change management across Europe.F31D-D663-4EF2 | Anabela Mota Pintoinfo:eu-repo/semantics/publishedVersio

Enhancing the detection of Dinophysis spp. using electrochemical genosensors

Harmful algal blooms (HABs) pose a significant threat to the environment and public health. These blooms are defined by an accumulation of microscopic algae in water, and they can occur inlakes, rivers, estuaries, orcoastal areas. Factors like the unregulated runoff of agricultural and industrial wastes into the aquatic environment are believed to have transformed these ecosystems into favorable habitats for algae growth and proliferation. As a result, the frequency of these blooms is rising worldwide. Although these blooms are mostly harmless, certain species, namely dinoflagellates from the genus Dinophysis, produce toxins that pose a risk for human health. Therefore, the need for technological developments towards fast and precise detection of these toxin-producing microalgae is critical to prevent socio economical damages, as well as to assess the ecological status of marine ecosystems. In this work, an analytical approach based on an electrochemical genosensor device was developed to create a low-cost platform able to detect two dinoflagellate species from the genus Dinophysis: D.acuminataand D.acuta. The design of the DNA-based sensor involved three key steps: i) Sensing phase: consisted by a mixed self-assembled monolayer composed by a linear DNA capture probe and mercaptohexanol on to the disposable screen-printed gold electrodessurface; ii) Hybridization of complementary DNA sequence by using a sandwich format assay with enzymatic labels and iii) Electrochemical detection by chronoamperometry using an enzymatic scheme to amplify the electrochemical signal. The best analytical conditions used to study the relationship between electrochemical signal and DNA target concentration, to produce the best electrochemical genosensor device. Molecular biology tools, namely Polymerase Chain Reaction (PCR), will be used for further validation of the electrochemical genosensor to confirm its reliability. These advancements in analytical technologies contribute to the on going efforts in environmental management and public health protection by providing effective means for detectingand mitigating the risks associated with HABs. Further research and widespread implementation of these methods are required to ensure the safety and sustainability of aquatic ecosystems, safeguard public health, and facilitate proactive environmental management practices.info:eu-repo/semantics/publishedVersio