- Research Article
- 10.1016/j.jval.2025.09.500
EE116 Burden of Disease in Hereditary Transthyretin Amyloidosis With Polyneuropathy in Spain
- Dec 01, 2025
- Value in Health
- Sandra Flores-Moreno + 7 more +7
Publications from 2021 to 2026
Showing 10 of 34 papers
EE116 Burden of Disease in Hereditary Transthyretin Amyloidosis With Polyneuropathy in Spain
Addressing infectious diseases in Africa by accelerating drug discovery through data science
Despite being rich in natural resources and scientific talent, Africa continues to bear a staggering infectious disease burden. Historically, health innovation on the continent has relied on international funding and has been constrained by limited infrastructure and the emigration of skilled professionals. Data science tools offer a promising alternative, typically requiring fewer costly resources than traditional empirical research, with the potential to empower African scientists to generate tangible and impactful health solutions for the continent. Rapid progress in data science is expected to transform infectious disease research; thus, it is encouraging that numerous African initiatives are already applying data science tools to tackling pressing unmet medical needs, particularly in drug discovery. These efforts include identifying novel therapeutic targets, predicting drug-like molecules and their synthesis, enhancing clinical trial success rates and preparing for future disease threats. This review examines the current landscape of data science in infectious disease drug discovery across Africa.
Read moreMicrocredentials for Open Hardware and HPC Workforce Development: The Openchip Approach with RISC-V Ecosystem
The semiconductor and high-performance computing (HPC) sectors face a parallel and urgent challenge: a widening skills gap amid rapid technological evolution, particularly with the rise of open hardware platforms such as RISC-V. As global initiatives like the EU Chips Act and national sovereignty strategies emphasize workforce development, traditional academic programs remain too rigid and slow to adapt. This paper presents a microcredential-based strategy for agile, modular, and industry-validated training focused on open hardware and full-stack HPC system design. Through the lens of Openchip's approach, we explore how co-designed curricula—especially around vector-based RISC-V architectures—can modernize education to reflect emerging HPC paradigms. We also examine curricular gaps, the potential alignment with the TCPP curriculum initiative, and propose a roadmap for embedding microcredentials into scalable, open, and sovereign HPC education ecosystems.
Read moreTeachers' Customizations of Storyline Science Curriculum: Adapting for Their Students and Instructional Contexts
ABSTRACT Curriculum materials can play an essential role to help teachers shift their instruction. However, curricular enactment does not look identical in every classroom, because teachers need to be responsive to their students. In this study, we investigated the customizations teachers made while enacting storyline science curriculum. Specifically, we collected two data sources: a teacher survey and interviews. The survey was completed by 169 participants and included 20 follow‐up interviews with middle school science teachers enacting the OpenSciEd curriculum across the United States. Teachers reported frequently making changes to the curriculum, particularly small changes, which were made daily or almost daily. The frequency of these changes illustrates that enactment is jointly constructed by the curriculum, teacher and students in a specific context. The teachers’ goals motivating these changes stemmed from wanting to be more responsive to their students and constraints within their school systems. In terms of being responsive, the customizations focused on the goals of student engagement and participation as well as more support for students. While many of these changes aligned with the overarching vision of the curriculum, others appeared to potentially be in tension, particularly in relation to student epistemic agency and coherence. The other two most frequent goals for customizations were a lack of time and logistics (e.g., space, resources) highlighting the importance of the organizational context. Future research needs to develop tools, examples and professional learning experiences to support teachers in customizing for their students and context while aligning with the overarching instructional vision in curriculum.
Read moreHow journal submission and hosting systems influence the level of open metadata in Crossref
The importance of open research information, including publication metadata, is widely recognised. Crossref is an important infrastructure for registering open metadata as part of DOI registration. However, the metadata of many publications in Crossref is far from complete, with many publishers making certain metadata elements openly available, but failing to do so for other metadata elements. Publishers' ability to register this metadata with Crossref depends on their capacity to capture and retain this data in their production workflows. Submission systems seem to be an important, yet largely overlooked, factor in the extent to which publishers make metadata available through Crossref. In this presentation, we present the results of a large-scale analysis investigating the correlation between the level of metadata that publishers deposit with Crossref and the submission and hosting systems that they deploy for their journals. We look at the 150 publishers with the largest amounts of publications in Crossref in recent years, and concentrate on commonly used systems, including Editorial Manager, ScholarOne, Open Journal Systems (OJS), and eJournalPress. Information on submission and hosting systems is validated through a survey sent out to the 150 publishers in scope of this analysis. We will show that some submission systems appear better suited to capturing certain metadata elements. However, there are always cases where publishers using the same system differ widely in the level of metadata they register, suggesting that technology is not the only prohibiting factor, but that other considerations, probably commercial, are at play.
Read moreNano3P-seq: charting the coding and noncoding transcriptome at single-molecule resolution.
RNA polyadenylation is crucial for RNA maturation, stability and function, with poly(A) tail lengths significantly influencing mRNA translation, efficiency and decay. Here, we provide a step-by-step protocol to perform Nanopore 3' end-capture sequencing (Nano3P-seq), a nanopore-based cDNA sequencing method to simultaneously capture RNA abundances and tail-composition and tail-length estimates at single-molecule resolution. Taking advantage of a template switching-based protocol, Nano3P-seq can sequence any RNA-derived molecule from its 3' end, regardless of its polyadenylation status, without the need for PCR amplification or RNA adapter ligation. We provide an updated Nano3P-seq protocol that is compatible with R10.4 flow cells, as well as compatible software for poly(A) tail length and content prediction, which we term 'PolyTailor'. We demonstrate that PolyTailor provides accurate estimates of transcript abundances and tail lengths and composition, while capturing both coding and noncoding RNA biotypes, including mRNAs, small nucleolar RNAs and ribosomal RNAs. Nano3P-seq can be applied to RNA samples prepared by using different methods (e.g., poly(A)-selected, ribodepleted or total RNA) and can be completed in 1 day. The protocol requires experience in molecular biology techniques and nanopore sequencing library preparation and basic knowledge of Linux Bash syntax and R programming. This protocol makes Nano3P-seq accessible and easy to implement by future users aiming to study the tail dynamics and heterogeneity of both coding and noncoding transcriptomes in a comprehensive and reproducible manner.
Read moreHTA369 Who Will be Shaping European Health Technology Assessment? A Scoring System to Anticipate Individual Countries' Influence on, and Uptake of, Joint Clinical Assessments (JCA) in the European Union (EU)
AI can help to tailor drugs for Africa - but Africans should lead the way.
Computational models that require very little data could transform biomedical and drug development research in Africa, as long as infrastructure, trained staff and secure databases are available. Computational models that require very little data could transform biomedical and drug development research in Africa, as long as infrastructure, trained staff and secure databases are available.
Read more‘More IBD nurses, better care’ – a collaborative approach to driving inflammatory bowel disease nursing development
This report examines how Crohn's & Colitis UK, in partnership with the RCN's Gastrointestinal Forum and IBD Nursing Network, supports IBD nurse specialists to improve patient care
Read morePreferences in the Willingness to Download an mHealth App: Discrete Choice Experimental Study in Spain, Germany, and the Netherlands.
Despite the worldwide growth in mobile health (mHealth) tools and the possible benefits for both patients and health care providers, the adoption of mHealth is low, and only a limited number of studies have examined the intention to download mHealth apps. In this study, we investigated individuals' preferences in the adoption of a health app. We conducted a discrete choice experimental study in 3 countries (Spain: n=800, Germany: n=800, and the Netherlands: n=416) with 4 different attributes and levels (ie, price: €1.99 vs €4.99 [a currency exchange rate of €1=US $1.09 is applicable] vs for free, data protection: data protection vs no information, recommendation: patients' association vs doctors, and manufacturer: medical association vs pharmaceutical company). Participants were randomly assigned. For the analyses, we used the conditional logistic model separately for each country. The results showed that price and data protection were considered important factors that significantly increased the probability to download an mHealth app. In general, the source of the recommendation and the manufacturer affected the probability to download the mHealth app less. However, in Germany and the Netherlands, we found that if the app was manufactured by a pharmaceutical company, the probability to download the mHealth app decreased. mHealth tools are highly promising to reduce health care costs and increase the effectiveness of traditional health interventions and therapies. Improving data protection, reducing costs, and creating sound business models are the major driving forces to increase the adoption of mHealth apps in the future. It is thereby essential to create trustworthy standards for mobile apps, whereby prices, legislation concerning data protection, and health professionals can have a leading role to inform the potential consumers.
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