Publications by authors named "N van Beek"
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Giancarlo Parenti Simona Fecarotta Marianna Alagia Federica Attaianese Alessandra Verde Nadine A M E van der Beek
Orphanet J Rare Dis
November 2024
Article Synopsis
- Clinical pathway recommendations (CPR) provide guidance on managing specific diagnoses, in this case, Pompe disease, a metabolic disorder caused by a deficiency in a specific enzyme.
- The CPR document was created by a working group from MetabERN, which focuses on metabolic diseases, and involved systematic literature searches and quality assessments based on established methodologies.
- This document aims to standardize care for Pompe disease patients by addressing various aspects including pathophysiology, diagnosis, treatment, and follow-up strategies for healthcare providers.
Classic infantile Pompe disease is caused by abnormal lysosomal glycogen accumulation in multiple tissues, including the brain due to a deficit in acid α-glucosidase. Although treatment with recombinant human acid α-glucosidase has dramatically improved survival, recombinant human acid α-glucosidase does not reach the brain, and surviving classic infantile Pompe patients develop progressive cognitive deficits and white matter lesions. We investigated the feasibility of measuring non-invasively glycogen build-up and other metabolic alterations in the brain of classic infantile Pompe patients.
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- - The R-PAct scale is designed to measure how Pompe disease affects daily life, and this study aimed to validate it for use in different languages and countries.
- - Researchers created German, French, Italian, and Spanish versions of the scale and collected data from Pompe patients in several countries, combining it with existing data for analysis.
- - Results showed that the modified R-PAct scale is valid and effectively measures two key areas of patient activity, with a minor adjustment made to improve its reliability across diverse populations.
Article Synopsis
- Lateral cord plantar fasciitis (LCPF) is a foot condition that causes pain near the pinky toe and was treated in this study.
- Researchers used PRP injections and a walking cast to help patients, checking their pain levels at different times after treatment.
- The results showed that pain decreased significantly after treatment and patients continued to feel better up to two years later.