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Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment.
Neuromuscul Disord 2015; 25(11):852-8ND

Abstract

Respiratory insufficiency commonly develops in patients with Late Onset Pompe Disease (LOPD). It is conceivable that a timely starting of enzyme replacement therapy could avoid this life-threatening complication. Respiratory function in LOPD is commonly evaluated with standard pulmonary tests which do not extensively provide an accurate definition of the muscular pathophysiology. In eleven patients with LOPD and five healthy subjects, we compared pulmonary function results with MRI data, based on scans of the right lung acquired on maximum expiration and inspiration. We observed that variations in the cranio-caudal lung height and of lung areas in inspiration and expiration (lung delta) as well as the area of diaphragmatic movement strongly correlated with pulmonary function results. Moreover, MRI data confirmed that development of respiratory insufficiency in LOPD is mainly due to the diaphragmatic weakness with sparing of the antero-posterior chest expansion related to the activity of the intercostal muscles. These results suggest that respiratory muscle MRI is a quick, useful and reproducible tool for patient management as well as a reliable outcome measure for future LOPD therapeutic trials.

Authors+Show Affiliations

Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, Messina, Italy.Department of Neurosciences, University of Messina, Messina, Italy. Electronic address: omusumeci@unime.it.Department of Neurosciences, University of Messina, Messina, Italy.Department of Specialist Medical-Surgical Experimental Sciences and Odontostomatology, University of Messina, Messina, Italy.Department of Neurosciences, University of Messina, Messina, Italy.Department of Neurosciences, University of Messina, Messina, Italy.Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, Messina, Italy.Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, Messina, Italy.Department of Neurosciences, University of Messina, Messina, Italy.

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

26410244

Citation

Gaeta, Michele, et al. "Clinical and Pathophysiological Clues of Respiratory Dysfunction in Late-onset Pompe Disease: New Insights From a Comparative Study By MRI and Respiratory Function Assessment." Neuromuscular Disorders : NMD, vol. 25, no. 11, 2015, pp. 852-8.
Gaeta M, Musumeci O, Mondello S, et al. Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment. Neuromuscul Disord. 2015;25(11):852-8.
Gaeta, M., Musumeci, O., Mondello, S., Ruggeri, P., Montagnese, F., Cucinotta, M., ... Toscano, A. (2015). Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment. Neuromuscular Disorders : NMD, 25(11), pp. 852-8. doi:10.1016/j.nmd.2015.09.003.
Gaeta M, et al. Clinical and Pathophysiological Clues of Respiratory Dysfunction in Late-onset Pompe Disease: New Insights From a Comparative Study By MRI and Respiratory Function Assessment. Neuromuscul Disord. 2015;25(11):852-8. PubMed PMID: 26410244.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment. AU - Gaeta,Michele, AU - Musumeci,Olimpia, AU - Mondello,Stefania, AU - Ruggeri,Paolo, AU - Montagnese,Federica, AU - Cucinotta,Maria, AU - Vinci,Sergio, AU - Milardi,Demetrio, AU - Toscano,Antonio, Y1 - 2015/09/07/ PY - 2015/03/14/received PY - 2015/07/08/revised PY - 2015/09/02/accepted PY - 2015/9/28/entrez PY - 2015/9/28/pubmed PY - 2016/8/6/medline KW - Diaphragm KW - Pompe disease KW - Respiratory muscles MRI SP - 852 EP - 8 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 25 IS - 11 N2 - Respiratory insufficiency commonly develops in patients with Late Onset Pompe Disease (LOPD). It is conceivable that a timely starting of enzyme replacement therapy could avoid this life-threatening complication. Respiratory function in LOPD is commonly evaluated with standard pulmonary tests which do not extensively provide an accurate definition of the muscular pathophysiology. In eleven patients with LOPD and five healthy subjects, we compared pulmonary function results with MRI data, based on scans of the right lung acquired on maximum expiration and inspiration. We observed that variations in the cranio-caudal lung height and of lung areas in inspiration and expiration (lung delta) as well as the area of diaphragmatic movement strongly correlated with pulmonary function results. Moreover, MRI data confirmed that development of respiratory insufficiency in LOPD is mainly due to the diaphragmatic weakness with sparing of the antero-posterior chest expansion related to the activity of the intercostal muscles. These results suggest that respiratory muscle MRI is a quick, useful and reproducible tool for patient management as well as a reliable outcome measure for future LOPD therapeutic trials. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/26410244/Clinical_and_pathophysiological_clues_of_respiratory_dysfunction_in_late_onset_Pompe_disease:_New_insights_from_a_comparative_study_by_MRI_and_respiratory_function_assessment_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(15)00716-6 DB - PRIME DP - Unbound Medicine ER -