| 1. |
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Laugwitz, Lucia, et al.
(author)
-
Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
- 2024
-
In: European Journal of Paediatric Neurology. - 1090-3798. ; 49, s. 141-154
-
Journal article (peer-reviewed)abstract
- Introduction: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically. Newborn screening (NBS) for MLD has recently been shown to be technically feasible and is indicated because of available treatment options. However, there is a lack of guidance on how to monitor and manage identified cases. This study aims to establish consensus among international experts in MLD and patient advocates on clinical management for NBS-identified MLD cases. Methods: A real-time Delphi procedure using eDELPHI software with 22 experts in MLD was performed. Questions, based on a literature review and workshops, were answered during a seven-week period. Three levels of consensus were defined: A) 100%, B) 75–99%, and C) 50–74% or >75% but >25% neutral votes. Recommendations were categorized by agreement level, from strongly recommended to suggested. Patient advocates participated in discussions and were involved in the final consensus. Results: The study presents 57 statements guiding clinical management of NBS-identified MLD patients. Key recommendations include timely communication by MLD experts with identified families, treating early-onset MLD with gene therapy and late-onset MLD with HSCT, as well as pre-treatment monitoring schemes. Specific knowledge gaps were identified, urging prioritized research for future evidence-based guidelines. Discussion: Consensus-based recommendations for NBS in MLD will enhance harmonized management and facilitate integration in national screening programs. Structured data collection and monitoring of screening programs are crucial for evidence generation and future guideline development. Involving patient representatives in the development of recommendations seems essential for NBS programs.
|
|
| 6. |
|
|
| 7. |
- Weyns, Danny, et al.
(author)
-
Agent Environments for Multi-agent Systems : A Research Roadmap
- 2015
-
In: Agent Environments for Multi-Agent Systems IV. - Cham : Springer. - 9783319238500 - 9783319238494 ; , s. 3-21
-
Conference paper (peer-reviewed)abstract
- Ten years ago, researchers in multi-agent systems became more and more aware that agent systems consist of more than only agents. The series of workshops on Environments for Multi-Agent Systems (E4MAS 2004-2006) emerged from this awareness. One of the primary outcomes of this endeavor was a principled understanding that the agent environment should be considered as a primary design abstraction, equally important as the agents. A special issue in JAAMAS 2007 contributed a set of influential papers that define the role of agent environments, describe their engineering, and outline challenges in the field that have been the drivers for numerous follow up research efforts. The goal of this paper is to wrap up what has been achieved in the past 10 years and identify challenges for future research on agent environments. Instead of taking a broad perspective, we focus on three particularly relevant topics of modern software intensive systems: large scale, openness, and humans in the loop. For each topic, we reflect on the challenges outlined 10 years ago, present an example application that highlights the current trends, and from that outline challenges for the future. We conclude with a roadmap on how the different challenges could be tackled.
|
|
