A Comprehensive Update on Late-Onset Pompe Disease

B Labella, S Cotti Piccinelli, B Risi, F Caria, S Damioli… - Biomolecules, 2023 - mdpi.com
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …

Sleep disorders in neuromuscular diseases: a narrative review

M Boentert - Clinical and Translational Neuroscience, 2023 - mdpi.com
Neuromuscular disorders (NMDs) encompass a highly diverse group of conditions that affect
the skeletal muscles, peripheral nervous system, or motor endplate. Depending on the …

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen …

G Parenti, S Fecarotta, M Alagia, F Attaianese… - Orphanet Journal of …, 2024 - Springer
Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a
short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In …

Chest Dynamic MRI as Early Biomarker of Respiratory Impairment in Amyotrophic Lateral Sclerosis Patients: A Pilot Study

F Barbato, A Bombaci, G Colacicco, G Bruno… - Journal of Clinical …, 2024 - mdpi.com
Background: Amyotrophic lateral sclerosis (ALS) is a neuromuscular progressive disorder
characterized by limb and bulbar muscle wasting and weakness. A total of 30% of patients …

Upper-body free-breathing Magnetic Resonance Fingerprinting applied to the quantification of water T1 and fat fraction

C Slioussarenko, PY Baudin, M Lapert… - arXiv preprint arXiv …, 2024 - arxiv.org
Over the past decade, Magnetic Resonance Fingerprinting (MRF) has emerged as an
efficient paradigm for the rapid and simultaneous quantification of multiple MRI parameters …

[HTML][HTML] Der Atmungstherapeut in der Neurologie–Ein Blick auf das Berufsbild und ein Ausblick in die Zukunft

D Hornemann, C Marquardt, J Sugg… - Fortschritte der …, 2023 - thieme-connect.com
Die Qualifikation des Atmungstherapeuten wird von Pflegekräften und Therapeuten durch
eine ca. 1, 5jährige qualifizierende Weiterbildung erworben. Die Leistungen der …

[PDF][PDF] The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen …

S Fecarotta, M Alagia, F Attaianese, A Verde, A Tarallo… - 2024 - scientiasalut.gencat.cat
Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a
short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In …

Characteristics of Diaphragmatic and Chest Wall Motion in People with Normal Pulmonary Function: A Study with Free-Breathing Dynamic MRI

X Yang, H Sun, M Deng, Y Chen, C Li, P Yu… - Journal of Clinical …, 2022 - mdpi.com
Objective: We aimed to quantitatively study the characteristic of diaphragm and chest wall
motion using free-breathing dynamic magnetic resonance imaging (D-MRI) in Chinese …

[HTML][HTML] Auto-segmentation of hemi-diaphragms in free-breathing dynamic MRI of pediatric subjects with thoracic insufficiency syndrome

Y Akhtar, JK Udupa, Y Tong, C Wu, T Liu, L Tong… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Purpose In respiratory disorders such as thoracic insufficiency syndrome (TIS), the
quantitative study of the regional motion of the left hemi-diaphragm (LHD) and right hemi …

[HTML][HTML] Calculating curvature through gradient descent and nonlinear regression: A novel mathematical approach to digital anatomical morphometry

CVL Olson, D Kachlík, A Al-Redouan - Informatics in Medicine Unlocked, 2023 - Elsevier
Background Angular projection measurements have long been an established approach in
anatomical morphometry. However, many described projection angles are in reference to …