Publications by authors named "H J von Kooten"
Article Synopsis
- - 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.
Background: Pompe disease is a lysosomal storage disease characterised by skeletal and respiratory muscle weakness. Since 2006, enzyme replacement therapy (ERT) with alglucosidase alfa has been available. ERT significantly improves the prognosis of patients with Pompe disease.
View Article and Find Full Text PDFBackground: Enzyme replacement therapy (ERT) with alglucosidase alfa is the treatment for patients with Pompe disease, a hereditary metabolic myopathy. Home-based ERT is unavailable in many countries because of the boxed warning alglucosidase alfa received due to the risk of infusion-associated reactions (IARs). Since 2008, home infusions have been provided in The Netherlands.
View Article and Find Full Text PDFObjectives: To evaluate changes in diaphragmatic function in Pompe disease using MRI over time, both during natural disease course and during treatment with enzyme replacement therapy (ERT).
Methods: In this prospective study, 30 adult Pompe patients and 10 healthy controls underwent pulmonary function tests and spirometry-controlled MRI twice, with an interval of 1 year. In the sagittal view of 3D gradient echo breath-hold acquisitions, diaphragmatic motion (cranial-caudal ratio between end-inspiration and end-expiration) and curvature (diaphragm height and area ratio) were calculated using a machine learning algorithm based on convolutional neural networks.