A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance

IC Hageman, IALM van Rooij, I de Blaauw… - Orphanet Journal of …, 2023 - Springer
Patient registries serve to overcome the research limitations inherent in the study of rare
diseases, where patient numbers are typically small. Despite the value of real-world data …

Artificial intelligence (AI) in rare diseases: is the future brighter?

S Brasil, C Pascoal, R Francisco, V dos Reis Ferreira… - Genes, 2019 - mdpi.com
The amount of data collected and managed in (bio) medicine is ever-increasing. Thus, there
is a need to rapidly and efficiently collect, analyze, and characterize all this information …

Opportunities and challenges for machine learning in rare diseases

S Decherchi, E Pedrini, M Mordenti, A Cavalli… - Frontiers in …, 2021 - frontiersin.org
Rare diseases (RDs) are complicated health conditions that are difficult to be managed at
several levels. The scarcity of available data chiefly determines an intricate scenario even …

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles …

R Raycheva, K Kostadinov, E Mitova… - Frontiers in Public …, 2023 - frontiersin.org
Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …

Global epidemiology of movement disorders: rare or underdiagnosed?

SA O'Shea, LC Shih - Seminars in Neurology, 2023 - thieme-connect.com
In this manuscript, we review the epidemiology of movement disorders including Parkinson's
disease (PD), atypical parkinsonism, essential tremor, dystonia, functional movement …

Systematic review: drug repositioning for congenital disorders of glycosylation (CDG)

S Brasil, M Allocca, SCM Magrinho, I Santos… - International Journal of …, 2022 - mdpi.com
Advances in research have boosted therapy development for congenital disorders of
glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid …

Natural antimicrobials: A clean label strategy to improve the shelf life and safety of reformulated meat products

NA Santiesteban-López, JA Gómez-Salazar… - Foods, 2022 - mdpi.com
Meat is a nutrient-rich matrix for human consumption. However, it is also a suitable
environment for the proliferation of both spoilage and pathogenic microorganisms. The …

[HTML][HTML] De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data

MG Kersloot, A Jacobsen, KHJ Groenen… - Journal of Biomedical …, 2021 - Elsevier
Introduction Existing methods to make data Findable, Accessible, Interoperable, and
Reusable (FAIR) are usually carried out in a post hoc manner: after the research project is …

A novel small-data based approach for decoding yes/no-decisions of locked-in patients using generative adversarial networks

P Penava, R Buettner - IEEE Access, 2023 - ieeexplore.ieee.org
We demonstrate how to use generative adversarial networks to improve the small data
problem when training brain-computer-interfaces. The new approach is based on finely …

Accountable Bench-to-Bedside Data-Sharing Mechanism for Researchers

O Seneviratne, K Adams, DL McGuinness - ACM Transactions on Social …, 2023 - dl.acm.org
We present a trustworthy mechanism for sharing, reusing, and repurposing data to address
the challenge of the costly and time-consuming effort needed to bring an innovative idea …