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OBJECTIVES: The aim of this study was to review the current evaluation and funding processes for new drugs in different developed countries, to provide a comparative framework with detailed, homogeneous, and up-to-date information. METHODS: Scientific publications, reports and websites were reviewed between July and December 2021 using PubMed, Google Scholar, and grey literature sources. The main items searched were actors and processes, including timelines, characteristics of clinical and economic evaluations, participation of stakeholders, elements of price and reimbursement decisions, cost-effectiveness thresholds and specific funds. The analysed 13 countries were Australia, Canada, England, France, Germany, Italy, Japan, the Netherlands, Portugal, Scotland, South Korea, Spain and Sweden. RESULTS: Eight countries perform the assessment process separated from the pricing decision. Countries measure each drug's added therapeutic value through multi-attribute value scales, algorithms, non-prescriptive lists of criteria, or quality-adjusted life years (QALYs). Health technology assessment (HTA) methodologies differ in their outcome measures, elicitation techniques, comparators, and perspectives. The criteria used for pricing and reimbursement include humanistic, clinical, and economic aspects. Only Scotland, England, the Netherlands, Canada and Portugal use explicit efficiency thresholds. Health care professionals participate in all assessment committees, and patients are becoming increasingly involved in most countries. The official time from marketing authorisation to the completion of the evaluation and pricing processes varied from 126 to 540 days. CONCLUSIONS: Most analysed countries show a trend towards value-based approaches that consider value for money to society, but also other economic, clinical, and humanistic criteria. Good practices included robustness, transparency, independence, and participation.
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Organização para a Cooperação e Desenvolvimento Econômico , Avaliação da Tecnologia Biomédica , Humanos , Países Baixos , Alemanha , França , Análise Custo-BenefícioRESUMO
Introduction: Psoriasis is a chronic disease involving the skin, which significantly impacts the quality of life. Disease severity and treatment efficacy (i.e., response) are assessed through the Psoriasis Area and Severity Index (PASI). A PASI 75 response, i.e., an improvement of at least 75% with respect to the baseline PASI score, has traditionally been used as a therapeutic benchmark in clinical trials. Therapeutic advances have made PASI 90 or PASI 100 responses possible in most patients treated with some biologics. A greater response may generate social value beyond clinical outcomes that would benefit both patients and society. Methods: A 1-year economic model was applied to estimate the impact of having a PASI 75, PASI 90, or PASI 100 response in four areas of analysis (quality of life, activities of daily living, work productivity, and out-of-pocket expenditures) and the social value of having a PASI 90 or PASI 100 response in comparison with a PASI 75 response. A mixed-methods approach based on the scientific literature, a focus group with patient, and an advisory committee with psoriasis stakeholders was used. The model included three different scenarios: having a PASI 90 vs a PASI 75 response; a PASI 100 vs a PASI 90 response; and a PASI 100 vs a PASI 75 response. A sensitivity analysis was included. Results: The annual economic impact per patient with moderate-to-severe plaque psoriasis having a PASI 75 response was estimated at L 6,139, mainly related to labour productivity losses and quality of life reductions. Having a PASI 90 or a PASI 100 response would reduce this impact to 3,956 or 1,353, respectively. Accordingly, the social value of having a PASI 90 instead of a PASI 75 response was estimated at 2,183, and 4,786 with a PASI 100 response. Discussion: A PASI 90 or PASI 100 response would have a lower economic impact and a greater social value than a PASI 75 response for patients with moderate-to-severe plaque psoriasis.
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Psoríase , Qualidade de Vida , Humanos , Espanha , Atividades Cotidianas , Valores Sociais , Psoríase/tratamento farmacológicoRESUMO
BACKGROUND AND AIMS: The dynamics of genome evolution caused by whole genome duplications and other processes are hypothesized to shape the diversification of plants and thus contribute to the astonishing variation in species richness among the main lineages of land plants. Ferns, the second most species-rich lineage of land plants, are highly suitable to test this hypothesis because of several unique features that distinguish fern genomes from those of seed plants. In this study, we tested the hypothesis that genome diversity and disparity shape fern species diversity by recording several parameters related to genome size and chromosome number. METHODS: We conducted de novo measurement of DNA C-values across the fern phylogeny to reconstruct the phylogenetic history of the genome space occupation in ferns by integrating genomic parameters such as genome size, chromosome number and average DNA amount per chromosome into a time-scaled phylogenetic framework. Using phylogenetic generalized least square methods, we determined correlations between chromosome number and genome size, species diversity and evolutionary rates of their transformation. KEY RESULTS: The measurements of DNA C-values for 233 species more than doubled the taxon coverage from ~2.2 % in previous studies to 5.3 % of extant diversity. The dataset not only documented substantial differences in the accumulation of genomic diversity and disparity among the major lineages of ferns but also supported the predicted correlation between species diversity and the dynamics of genome evolution. CONCLUSIONS: Our results demonstrated substantial genome disparity among different groups of ferns and supported the prediction that alterations of reproductive modes alter trends of genome evolution. Finally, we recovered evidence for a close link between the dynamics of genome evolution and species diversity in ferns for the first time.
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Gleiquênias , Filogenia , Gleiquênias/genética , Tamanho do Genoma , Genômica , DNARESUMO
OBJECTIVE: The aim of this study was to reach a consensus on a set of proposals to optimise the disease management of Multiple myeloma (MM) within the Spanish National Health System (SNHS) and to apply the Social Return on Investment (SROI) method to estimate their social impact. METHODS: A Multidisciplinary Working Team (MWT) including MM main stakeholders was organised. A survey was administered to gather information from patients regarding the impact of MM on different life domains. A forecast-type SROI analysis, with a 1-year timeframe, was applied. RESULTS: Fifteen proposals were selected, to optimise MM management, including actions for early diagnosis, psychological support, improvement of information for patients and quick access to palliative care, among others. The implementation of these proposals would benefit patients, their informal caregivers and the SNHS. The investment required would amount to 10.32 million euros with a social return of 43.31 million euros: 4.2 euros for each euro invested. According to the sensitivity analysis, this ratio could range from 3.38 to 5.20 euros from the worst to the best-case scenario. CONCLUSIONS: The current management of MM could be optimised by implementing a set of proposals that would most likely result in an overall positive social return.
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Mieloma Múltiplo , Humanos , Análise Custo-Benefício , Mieloma Múltiplo/terapia , Espanha , Cuidadores , Serviços de SaúdeRESUMO
Purpose: To define a set of proposals that would improve the current management of chronic obstructive pulmonary disease (COPD) within the Spanish National Healthcare System (SNHS) from a comprehensive multidisciplinary perspective and to assess the impact of its implementation from clinical, healthcare, economic, and social perspectives. Patients and Methods: A group of 20 stakeholders related to COPD (healthcare professionals, patients, and informal caregivers, among others) participated in an online Delphi process to agree on a set of 15 proposals that would improve the current management of COPD within the SNHS in four areas: diagnosis, risk stratification, management of exacerbations, and management of stable COPD. A one-year forecast-type social return on investment (SROI) analysis was used to estimate the impact that implementing the set of proposals would have in relation to the investment required. A sensitivity analysis was used to test the strength of the model when varying assumption-based data-points. Results: The hypothetical implementation of the complete set of 15 proposals would require a 668 million investment and would generate a 2079 million social impact concerning savings for the SNHS and quality of life improvements for patients and their informal caregivers, among others. Accordingly, for every euro invested in the set of proposals, a social return of 3.11 would be generated (2.71 in the worst-case scenario and 3.62 in the best-case scenario) of both tangible (32.56%) and intangible nature (67.44%). Conclusion: Altogether, implementing this set of 15 proposals would generate a positive social impact, threefold the required investment. The results may inform decisions relative to healthcare policy and practice regarding COPD management within the SNHS, further contributing to reduce the large burden of COPD.
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Doença Pulmonar Obstrutiva Crônica , Custos de Cuidados de Saúde , Humanos , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/terapia , Qualidade de VidaRESUMO
BACKGROUND: Multi-criteria decision analysis (MCDA) was proposed to surmount arbitrary clinical decisions in the field of biological therapies for psoriatic patients. At the same time, MCDA may further highlight the potential of bimekizumab for the treatment of moderate-to-severe psoriasis, compared to placebo, adalimumab, ustekinumab, secukinumab, and even ixekizumab and risankizumab. RESEARCH DESIGN AND METHODS: The EVIDEM framework was adapted to reflect relevant criteria for the assessment. Estimated values were obtained by means of an additive linear model combining weights and scores assigned by a multidisciplinary committee of 12 experts. Consistency and replicability were evaluated through an alternative weighting method and a re-test. RESULTS: Bimekizumab was assessed by the committee as an intervention with a positive value contribution for the treatment of moderate-to-severe psoriasis in comparison to any of the alternatives. The drug provides a substantial therapeutical benefits and improves the health results reported by the patients, as it combines a higher level of clearance, rapidity, and persistence with a similar safety and tolerability profile. CONCLUSIONS: Under a methodology with increasing use in the health field, bimekizumab was evaluated as a drug with a high added value for the treatment of moderate-to-severe psoriasis when compared to six different alternatives.
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Psoríase , Adalimumab/efeitos adversos , Anticorpos Monoclonais Humanizados , Técnicas de Apoio para a Decisão , Humanos , Psoríase/tratamento farmacológico , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Psoriasis is a chronic, systemic inflammatory disease that affects the skin, with a high impact on patients' quality of life. The aim of this study was to identify and determine the relative importance of unmet needs in the management of moderate-to-severe psoriasis in Spain, from a multi-stakeholder perspective. A mixed method-approach was used to collect information, design a questionnaire and a discrete-choice exercise, and elicit the unmet needs through a multidisciplinary committee composed of 12 experts. A total of 65 unmet needs were identified and categorized into 4 areas: clinical, patient-related, decision-making process, and social. Decision-making process unmet needs were perceived as the most pressing ones, followed by social, clinical and patient-related. Individually, the need to incorporate outcomes that are important to the patients and to have treatments that achieve total clearance with a rapid onset of action and long-term persistence were the most important unmet needs.
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Psoríase , Qualidade de Vida , Exercício Físico , Humanos , Psoríase/diagnóstico , Psoríase/tratamento farmacológico , Espanha/epidemiologia , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Pulmonary Arterial Hypertension (PAH) is a rare, debilitating, and potentially fatal disease. This study aims to quantify the economic burden of PAH in Spain. METHODS: The study was conducted from a societal perspective, including direct and indirect costs associated with incident and prevalent patients. Average annual costs per patient were estimated by multiplying the number of resources consumed by their unit cost, differentiating the functional class (FC) of the patient. Total annual costs per FC were also calculated, taking the 2020 prevalence and incidence ranges into account. An expert committee validated the information on resource consumption and provided primary information on pharmacological consumption. Unit costs were estimated using official tariffs and salaries in Spain. A deterministic sensitivity analysis was conducted to test the uncertainty of the model. RESULTS: The average annual total cost was estimated at 98,839 per prevalent patient (FC I-II: 65,233; FC III: 103,736; FC IV: 208,821), being 42,110 for incident patients (FC I-II: 25,666; FC III: 44,667; FC IV: 95,188). The total annual cost of PAH in Spain, taking into account a prevalence between 16.0 and 25.9 cases per million adult inhabitants (FC I-II 31.8%; FC III 61.3%; FC IV 6.9%) and an incidence of 3.7, was estimated at 67,891,405 to 106,131,626, depending on the prevalence considered. Direct healthcare costs accounted for 64% of the total cost, followed by indirect costs (24%), and direct non-healthcare costs (12%). The total costs associated with patients in FC I-II ranged between 14,161,651 and 22,193,954, while for patients in FC III costs ranged between 43,763,019 and 68,391,651, and for patients in FC IV between 9,966,735 and 15,546,021. In global terms, patients with the worst functional status (FC IV) account for only 6.9% of the adults suffering from PAH in Spain, but are responsible for 14.7% of the total costs. CONCLUSIONS: PAH places a considerable economic burden on patients and their families, the healthcare system, and society as a whole. Efforts must be made to improve the health and management of these patients since the early stages of the disease.
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Hipertensão Arterial Pulmonar , Adulto , Atenção à Saúde , Estresse Financeiro , Custos de Cuidados de Saúde , Humanos , Hipertensão Arterial Pulmonar/epidemiologia , Espanha/epidemiologiaRESUMO
PURPOSE: The combination of glaucoma drainage device (GDI), pars plana vitrectomy (PPV), and corneal transplantation is well reported in adults. However, little is known about the outcomes of such combined procedures in pediatric patients. We present a retrospective, single-center study to evaluate the safety and outcomes of concurrent GDI and/or PPV with corneal transplantation in patients 18 years and younger. METHODS: Retrospective chart review of pediatric patients (aged 0-18 years) who received either corneal transplants or keratoprosthesis in combination with at least 1 additional procedure (either GDI and/or PPV) at the Illinois Eye and Ear Infirmary, Chicago, IL, between 2003 and 2017. Primary outcomes included vision, intraocular pressure, and cup-to-disc ratio (C/D). Secondary outcomes included the number of repeat surgeries and intraoperative and postoperative complications. RESULTS: Thirty-six patients were included with a mean age of 8.4 years and an average follow-up of 49.7 months. Nineteen patients received corneal surgery, GDI, and PPV; 4 received corneal and GDI surgery; and 13 received corneal and PPV surgery. Of the 19 patients with all 3 procedures, 48% experienced an increase in vision with an average improvement of 0.9 lines at the last follow-up. Intraocular pressure decreased by an average of -7.2 mm Hg for all groups. Fifty-three percent of all patients experienced complications. CONCLUSIONS: Combined keratoplasty, GDI, and PPV seems to be effective in the management of complex pediatric eye disease. However, owing to the high risk of complications in this vulnerable patient population, careful consideration must be taken when determining a patient's surgical candidacy for combined cornea/glaucoma/retina procedures.
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Doenças da Córnea , Transplante de Córnea , Implantes para Drenagem de Glaucoma , Glaucoma , Adulto , Humanos , Criança , Vitrectomia/métodos , Córnea/cirurgia , Estudos Retrospectivos , Doenças da Córnea/cirurgia , Doenças da Córnea/complicações , Acuidade Visual , Seguimentos , Resultado do Tratamento , Glaucoma/cirurgia , Glaucoma/complicações , Pressão IntraocularRESUMO
BACKGROUND: Haemophilia A (HA) has been associated with poor health-related quality of life and a large economic burden, accentuated by severity, arthropathy, and inhibitors. To meet global standards of care, the management of HA should align with the principles of care outlined by the World Federation of Haemophilia. The aims of the present study were to establish a set of proposals to improve HA management within the Spanish National Health System (SNHS) and to estimate the impact its hypothetical implementation would generate from a clinical, healthcare, economic, and social perspective. METHODS: A multidisciplinary group of experts agreed on a set of 15 proposals to improve HA management within the SNHS. Thereafter, a forecast-type Social Return on Investment analysis was carried out to estimate the impact of implementing this set of proposals within the SNHS over a one-year timeframe, in relation to the required investment. RESULTS: This study estimated that the implementation of the complete set of 15 proposals would require a total investment of 2.34 M and have a total impact of 14.60 M. Accordingly, every euro invested in the complete set of 15 proposals would yield a social return of 6.23 (3.37 in the worst-case scenario and 9.69 in the best-case scenario) of both tangible and intangible nature in similar proportions (45.71 and 54.29%, respectively). CONCLUSIONS: These results can be used to inform policy and practice such that interventions that may potentially improve current public health challenges associated with the management of HA may be implemented.
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Hemofilia A , Atenção à Saúde , Hemofilia A/tratamento farmacológico , Hemofilia A/epidemiologia , Humanos , Investimentos em Saúde , Qualidade de VidaRESUMO
Introduction: Hereditary angioedema (HAE) is a rare genetic disease that impairs quality of life and could be life-threatening. The aim of this study was to apply a multicriteria decision analysis to assess the value of three long-term prophylactic (LTP) therapies for HAE in Spain. Methods: A multidisciplinary committee of 10 experts assessed the value of lanadelumab (subcutaneous use), C1-inhibitor (C1-INH; intravenous), and danazol (orally), using placebo as comparator. We followed the EVIDEM methodology that considers a set of 13 quantitative criteria. The overall estimated value of each intervention was obtained combining the weighting of each criterion with the scoring of each intervention in each criterion. We used two alternative weighting methods: hierarchical point allocation (HPA) and direct rating scale (DRS). A reevaluation of weightings and scores was performed. Results: Lanadelumab obtained higher mean scores than C1-INH and danazol in all criteria, except for the cost of the intervention and clinical practice guidelines. Under the HPA method, the estimated values were 0.51 (95% confidence interval [CI]: 0.44-0.58) for lanadelumab, 0.47 (95%CI: 0.41-0.53) for C1-INH, and 0.31 (95%CI: 0.24-0.39) for danazol. Similar results were obtained with the DRS method: 0.51 (95%CI: 0.42-0.60), 0.47 (95%CI: 0.40-0.54), and 0.27 (95%CI: 0.18-0.37), respectively. The comparative cost of the intervention was the only criterion that contributed negatively to the values of lanadelumab and C1-INH. For danazol, four criteria contributed negatively, mainly comparative safety. Conclusion: Lanadelumab was assessed as a high-value intervention, better than C1-INH and substantially better than danazol for LTP treatment of HAE.
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OBJECTIVES: To define a set of proposals that would improve the current management of patients with rheumatoid arthritis (RA) within the Spanish National Health System (SNHS), and to estimate the impact of their implementation from a social perspective. METHODS: A one-year forecast-type Social Return on Investment (SROI) analysis was performed on the basis of information collected from a scientific literature review, official data, and multiple stakeholders regarding RA. A sub-analysis was performed within the areas of diagnosis, early RA (<2 years from diagnosis), and established RA (≥2 years from diagnosis). RESULTS: Stakeholders agreed on a set of 22 proposals, which included incorporating specialised nursing, addressing adherence issues, providing psychological support, or promoting the role of patient associations, among others. Their implementation would require an investment of 289 million euros and yield a social return of 913 million euros, i.e. a social return of 3.16 euros per euro invested (2.92 euros in the worst-case scenario and 3.40 euros in the best-case scenario). The greatest social return relative to investment and the greatest attributed to intangible aspects were observed within the area of early RA. CONCLUSIONS: Evidence-based recommendations for the management of RA are aspirational. Nevertheless, the present study estimated that the implementation of the set of proposals would result in a positive impact relative to the investment needed to implement them. The results may guide management decisions to reduce the burden associated with RA, and help bridge the gap between evidence-based recommendations and routine clinical practice.
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Artrite Reumatoide , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/terapia , HumanosRESUMO
INTRODUCTION: Spain was one of the most affected countries during the first wave of COVID-19, having the highest mortality rate in Europe. The aim of this retrospective study is to estimate the impact that remdesivir-the first drug for COVID-19 approved in the EU-would have had in the first wave. METHODS: This study simulated the impact that remdesivir could have had on the Spanish National Health System (SNHS) capacity (bed occupancy) and the number of deaths that could have been prevented, based on two scenarios: a real-life scenario (without remdesivir) and an alternative scenario (with remdesivir). It considered the clinical results of the ACTT-1 trial in hospitalized patients with COVID-19 and pneumonia who required supplemental oxygen. The occupancy rates in general wards and ICUs were estimated in both scenarios. RESULTS: Remdesivir use could have prevented the admission of 2587 patients (43.75%) in the ICUs. It could have also increased the SNHS capacity in 5656 general wards beds and 1700 ICU beds, showing an increase in the number of beds available of 17.53% (95% CI 3.98%-24.42%) and 23.98% (95% CI 21.33%-28.22%), respectively, at the peak of the occupancy rates. Furthermore, remdesivir use could have prevented 7639 deaths due to COVID-19, which implies a 27.51% reduction (95% CI 14.25%-34.07%). CONCLUSIONS: Remdesivir could have relieved the pressure on the SNHS and could have reduced the death toll, providing a better strategy for the management of COVID-19 during the first wave.
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Tratamento Farmacológico da COVID-19 , Monofosfato de Adenosina/análogos & derivados , Alanina/análogos & derivados , Antivirais/uso terapêutico , Europa (Continente) , Humanos , Estudos Retrospectivos , SARS-CoV-2 , Espanha/epidemiologiaRESUMO
OBJECTIVE: To validate the Comprehensive Complication Index (CCI) via an assessment of its relation to postoperative costs. BACKGROUND: The CCI summarizes all the postoperative complications graded by the Clavien-Dindo classification (CDC) on a numerical scale. Its relation to hospital costs has not been validated to date. METHODS: Prospective observational cohort study, including all patients undergoing surgery at a general surgery service during the 1-year study period. All complications graded with the CDC and CCI and related to the initial admission, or until discharge if the patient was readmitted within 90 days of surgery, were included. The surgeries were classified according to their Operative Severity Score (OSS) and in 4 groups of homogeneous surgeries. All postoperative costs were recorded. RESULTS: In all, 1850 patients were included, of whom 513 presented complications (27.7%). The CDC and the CCI were moderately to strongly correlated with overall postoperative costs (OPCs) in all OSS groups (rs = 0.444-0.810 vs 0.445-0.820; P < 0.001), homogeneous surgeries (rs = 0.364-0.802 vs 0.364-0.813; P < 0.001), prolongation of postoperative stay (rs = 0.802 vs 0.830; P < 0.001), and initial operating room costs (rs = 0.448 vs 0.451; P < 0.001). This correlation was higher in emergency surgery. With higher CDC grades, the OPC tended to increase an upward trend. In the multivariate analysis, CDC, CCI, age, and duration of surgery were all associated with OPC (P < 0.001). CONCLUSIONS: In our environment, the CCI presented associations with OPC. This demonstration of its economic validity enhances its clinical validity.
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Efeitos Psicossociais da Doença , Complicações Pós-Operatórias/economia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
OBJECTIVES: Ankylosing spondylitis (AS) is a disease associated with a high number of comorbidities, chronic pain, functional disability, and resource consumption. The aim of this study was to estimate the burden of AS in Spain. METHODS: A questionnaire, designed for the development of the "Atlas of Axial Spondyloarthritis in Spain 2017" cross-sectional study, was distributed to patients in 2016. This questionnaire was used to collect relevant sociodemographic and clinical information on patients with AS, as well as to identify resource consumption and patient work productivity losses related to AS within the previous 12 months of survey completion. Subsequently, direct costs were estimated with the bottom-up method and work productivity losses with the human capital method. Economic burden was estimated by subgroups, taking into account the degree of disease activity and the psychological status. RESULTS: The study sample comprised 578 patients with AS: mean age was 46.0±11.0 years, 52.9% were males, and 35.8% had a university-level education. Mean disease duration and diagnostic delay were 13.4±11.3 and 8.4±7.6 years, respectively, and mean Bath Ankylosing Spondylitis Disease Activity Index was 5.4±2.1. The estimated median annual cost per patient with AS was 5,402.4, with an average annual cost per patient of 11,462.3 euros, of which 61.1% (6,999.8 euros) were attributed to direct health care costs, 5.3% (611.3 euros) to direct non-health care costs, and 33.6% (3,851.2 euros) to work productivity losses. CONCLUSIONS: AS poses a significant burden for the Spanish National Health System and society.
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Espondilite Anquilosante , Adulto , Efeitos Psicossociais da Doença , Estudos Transversais , Diagnóstico Tardio , Feminino , Custos de Cuidados de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Espanha/epidemiologia , Espondilite Anquilosante/diagnóstico , Espondilite Anquilosante/epidemiologiaRESUMO
Biological membranes are currently used in Ophthalmology in order to treat different ocular disorders. These membranes have different properties such as cellular biocompatibility and promoting wound healing. Moreover, intrinsic antimicrobial properties could also be desirable because it would allow their use reducing the risk of infections. Graphene and its derivatives are promising biomaterials that already proved their bactericidal effect. However, their clinical use is limited due to the controversial results regarding their toxicity. In this work, we have developed and characterized a reduced graphene oxide membrane (rGOM) for its use in ocular Regenerative Medicine, and studied its in vitro and in vivo biocompatibility and genotoxicity with different types of human ocular cells. We proved that rGOM allowed the growth of different ocular cells without inducing in vitro or in vivo cytotoxicity or genotoxicity in the short-term. These results indicate that rGOM may be a promising candidate in Regenerative Medicine for the treatment of different ocular pathologies.
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Grafite , Materiais Biocompatíveis/farmacologia , Olho , Humanos , Medicina RegenerativaRESUMO
PURPOSE: In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management. METHODS: We studied 100 non-syndromic and syndromic Spanish patients with a clinical diagnosis of blindness caused by alterations on the retina, choroid, vitreous and/or optic nerve. We used a next-generation sequencing (NGS) panel (OFTALMOgenics™), developed and validated within this study, including up to 362 genes previously associated with these conditions. RESULTS: We identified the genetic cause of blindness in 45% of patients (45/100). A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer-Saldino, Bardet-Biedl, mucolipidosis and MLCRD syndromes. In two additional cases-syndromic blindness had been proposed before, but not specifically diagnosed, and one patient with Heimler syndrome had been misdiagnosed as an Usher case before testing. 33.3% of the genetically diagnosed patients (15/45) had causative variants in genes targeted by clinical trials exploring the curative potential of gene therapy approaches. CONCLUSION: Comprehensive genomic testing provided clinically relevant insights in a large proportion of blind patients, identifying potential therapeutic opportunities or previously undiagnosed syndromes in 42.2% of the genetically diagnosed cases (19/45).
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Gerenciamento Clínico , Testes Genéticos/métodos , Genômica/métodos , Doenças do Nervo Óptico/genética , Doenças Retinianas/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/terapia , Linhagem , Fenótipo , Doenças Retinianas/diagnóstico , Doenças Retinianas/terapia , SíndromeRESUMO
PURPOSE: To assess visual outcomes in high myopic eyes with nasal-inferior staphyloma implanted with a pseudophakic trifocal intraocular lens (IOL). METHODS: We retrospectively analyzed the visual outcomes of 50 eyes of 45 patients who had cataract surgery after AT LISA trifocal IOL implantation. Twenty-five eyes diagnosed with posterior staphyloma (nasal-inferior, type IV and V), and 25 eyes as long eyes. Uncorrected distance visual acuity (UDVA) and corrected distance visual acuity (CDVA) values were used to assess the efficacy and safety of the surgery. Refraction and defocus curves were also evaluated at 6 months. RESULTS: No intra- or post-operative problems occurred during the 6 months of follow-up. After the surgery, the mean Snellen decimal UDVA ranged from 0.50 to 1.00, and CDVA from 0.60 to 1.00 for both groups. CDVA was 0.91 and 0.74 for the long eye and nasal-inferior staphyloma groups, respectively. Efficacy and safety indexes were 1.22 and 1.32 for the long eye, and 1.26 and 1.43 for the nasal-inferior staphyloma group, respectively. All eyes of both groups showed a postoperative spherical equivalent within ±1.00D. The long eye group showed the highest percentage of spherical equivalent between -0.13D and +0.13D (56%) and the nasal-inferior staphyloma group was between -0.51D and -0.14D (40%). CONCLUSION: The outcomes of the present study show that a trifocal IOL provides good visual acuity in high myopic eyes, being worse for nasal-inferior staphyloma eyes. The degree of tilt of the macular plane is related with the expected visual acuity.
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BACKGROUND: Multiple Sclerosis (MS) is a chronic inflammatory, demyelinating and neurodegenerative disease that in many cases produces disability, having a high impact in patients' lives, reducing significantly their quality of life. The aim of this study was to agree on a set of proposals to improve the current management of MS within the Spanish National Health System (SNHS) and apply the Social Return on Investment (SROI) method to measure the potential social impact these proposals would create. METHODS: A Multidisciplinary Working Team of nine experts, with representation from the main stakeholders regarding MS, was set up to agree on a set of proposals to improve the management of MS. A forecast SROI analysis was carried out, with a one-year timeframe. Data sources included an expert consultation, a narrative literature review and a survey to 532 MS patients. We estimated the required investment of a hypothetical implementation, as well as the potential social value that it could create. We calculated outcomes in monetary units and we measured intangible outcomes through financial proxies. RESULTS: The proposed ideal approach revealed that there are still unmet needs related to MS that can be addressed within the SNHS. Investment would amount to 148 million and social return to 272 million , so each euro invested could yield almost 2 of social return. CONCLUSIONS: This study could guide health interventions, resulting in money savings for the SNHS and increases in patients' quality of life.