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Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Front Pediatr
February 2025
Division of Pediatric Neurology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye.
Background: We aimed to understand the genetic etiology in children presenting with epilepsy and/or developmental delay by using next-generation sequencing (NGS).
Materials And Methods: We included children presenting to our pediatric neurology clinic with a diagnosis of epilepsy and/or developmental delay between January 2019 and December 2021. We evaluated the patients using the NGS equipment in our genetic laboratory.
Access and pricing of medicines for patients with rare diseases in the European Union: an industry perspective. A 2025 update.
Expert Rev Pharmacoecon Outcomes Res
March 2025
The Comparative Health Outcomes, Policy, and Economics (CHOICE) Institute, University of Washington, Seattle, Washington, USA.
Introduction: In a previous publication, we provided an overview of the current situation of patient access to orphan drugs in the European Union (EU), of the evolving rare disease policy landscape and recommendations for areas of improvement throughout the lifecycle of orphan drugs. This article aims to provide an update on evolving new policies impacting access to orphan drugs in the European Union from a health technology developers perspective.
Areas Covered: We provide an update of the emerging competitiveness gap in the pharmaceutical sector between the EU and the United States.
Impact of treatment for adolescent and young adults with essential thrombocythemia and polycythemia vera.
Leukemia
March 2025
Guy's and St. Thomas' NHS Foundation Trust, London, ENG, United Kingdom.
Essential thrombocythemia (ET) and polycythemia vera (PV) are rare in adolescent and young adult (AYA). These conditions, similar to those in older patients, are linked with thrombotic complications and the potential progression to secondary myelofibrosis (sMF). This retrospective study of ET and PV patients diagnosed before age 25 evaluated complication rates and impact of cytoreductive drugs on outcomes.
View Article and Find Full Text PDFDebates over orphan drug pricing: a meta-narrative literature review.
Orphanet J Rare Dis
March 2025
iHuman, Social Research Institutes, University of Sheffield, The Wave, 2 Whitham Road, S10 2AH, Sheffield, UK.
Rare disease prevalence rates are increasing rapidly worldwide, as are the cost of orphan indication drugs used to treat them, posing significant strain on many healthcare systems. In response, a set of tensions have arisen within academic, activist, advocacy, industry, and policy circles over orphan drug pricing. Yet there has to date been no unifying review of the literature engaging critically with these tensions.
View Article and Find Full Text PDFBackground: Overweight and obesity is a global epidemic. Forecasting future trajectories of the epidemic is crucial for providing an evidence base for policy change. In this study, we examine the historical trends of the global, regional, and national prevalence of adult overweight and obesity from 1990 to 2021 and forecast the future trajectories to 2050.
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