Imaging respiratory muscle quality and function in Duchenne muscular dystrophy

Barnard, Alison M.; Lott, Donovan J.; Batra, Abhinandan; Triplett, William; Forbes, Sean C.; Riehl, Samuel L; Willcocks, Rebecca J.; Smith, Barbara K.; Vandenborne, Krista; Walter, Glenn A.

doi:10.1007/s00415-019-09481-z

Cited by 26 publications

(42 citation statements)

References 37 publications

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“…40 This hypothesis may be supported by the slower increase of fat fraction of the diaphragm 37 compared to that of the other expiratory muscles. 38 When subgroup analysis was made between ambulant and non-ambulant DMD, we did not found differences in θ and IP between ambulant and non-ambulant DMD in thoracoabdominal asynchrony during quiet spontaneous breathing and cough. However, the ambulant subjects presented differences in respiratory function, namely, sniff nasal inspiratory pressure test and forced vital capacity which is higher than the value in non-ambulant subjects, it is likely to be associated with lower respiratory impairment in ambulant subjects.…”

Section: Discussionmentioning

confidence: 58%

“…We previously showed in DMD subjects a significant lower muscular activation compared to controls during inspiratory and expiratory phases of coughing, 10 assessed by electromyographic activation of expiratory muscles (i.e., rectus abdominis, and external oblique). Also, Bernard et al 38 in DMD patients, suggesting paradoxical movement due to diaphragm co-contraction during maximal expiratory efforts. 40 This hypothesis may be supported by the slower increase of fat fraction of the diaphragm 37 compared to that of the other expiratory muscles.…”

Section: Discussionmentioning

confidence: 98%

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Thoracoabdominal asynchrony and paradoxical motion in Duchenne muscular dystrophy and healthy subjects during cough: A case control study

Marques

Fregonezi

Marcelino

et al. 2021

Pediatric Pulmonology

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Objective: To assess thoracoabdominal asynchrony (TAA) and inspiratory paradoxical motion at different positionings in subjects with Duchenne muscular dystrophy (DMD) versus healthy subjects during quiet spontaneous breathing (QB) and cough.Methods: This is a case control study with a matched-pair design. We assessed 14 DMD subjects and 12 controls using optoelectronic plethysmography (OEP) during QB and spontaneous cough in 3 positions: supine, supine with headrest raised at 45°, and sitting with back support at 80°. The TAA was assessed using phase angle (θ) between upper (RCp) and lower rib cage (RCa) and abdomen (AB), as well as the percentage of inspiratory time the RCp (IP RCp ), RCa (IP RCa ), and AB (IP AB ) moved in opposite directions.Results: During cough, DMD group showed higher RCp and RCa θ (p < .05), RCp and AB θ (p < .05) in supine and 45°positions, and higher RCp and Rca θ (p = .006) only in supine position compared with controls. Regarding the intragroup analysis, during cough, DMD group presented higher RCp and AB θ (p = .02) and RCa and AB θ (p = .002) in supine and higher RCa and AB θ (p = .002) in 45°position when compared to 80°. Receiver operating characteristic curve analyzes were able to discriminate TAA between controls and DMD in RCa supine position (area under the curve: 0.81, sensibility: 78.6% and specificity: 91.7%, p = .001). Conclusion:Subjects with DMD yields TAA with insufficient deflation of chest wall compartments and rib cage distortion during cough, by noninvasive assessment.

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Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 98%

Thoracoabdominal asynchrony and paradoxical motion in Duchenne muscular dystrophy and healthy subjects during cough: A case control study

Marques

Fregonezi

Marcelino

et al. 2021

Pediatric Pulmonology

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“…Diaphragmatic weakness is common in adults with Pompe disease, and earlier 2D and 3D MRI pilot studies in small groups of Pompe patients with decreased spirometry results also found decreased motion of the diaphragm [15][16][17][18]. Interestingly, this is different compared to studies in patients with Duchenne muscular dystrophy, in whom the motion of the chest wall as well as the diaphragm are reduced [24]. As we wished to investigate whether early signs of diaphragmatic weakness could also be observed in Pompe patients with normal spirometry results, we conducted the current MRI study.…”

Section: Discussionmentioning

confidence: 78%

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Harlaar

Ciet

Tulder

et al. 2021

Orphanet J Rare Dis

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Background In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm early in the disease course. Mildly impaired diaphragmatic function may not be recognized by spirometry, which is commonly used to study respiratory function. In this cross-sectional study, we aimed to identify early signs of diaphragmatic weakness in Pompe patients using chest MRI. Methods Pompe patients covering the spectrum of disease severity, and sex and age matched healthy controls were prospectively included and studied using spirometry-controlled sagittal MR images of both mid-hemidiaphragms during forced inspiration. The motions of the diaphragm and thoracic wall were evaluated by measuring thoracic cranial-caudal and anterior–posterior distance ratios between inspiration and expiration. The diaphragm shape was evaluated by measuring the height of the diaphragm curvature. We used multiple linear regression analysis to compare different groups. Results We included 22 Pompe patients with decreased spirometry results (forced vital capacity in supine position < 80% predicted); 13 Pompe patients with normal spirometry results (forced vital capacity in supine position ≥ 80% predicted) and 18 healthy controls. The mean cranial-caudal ratio was only 1.32 in patients with decreased spirometry results, 1.60 in patients with normal spirometry results and 1.72 in healthy controls (p < 0.001). Anterior–posterior ratios showed no significant differences. The mean height ratios of the diaphragm curvature were 1.41 in patients with decreased spirometry results, 1.08 in patients with normal spirometry results and 0.82 in healthy controls (p = 0.001), indicating an increased curvature of the diaphragm during inspiration in Pompe patients. Conclusions Even in early-stage Pompe disease, when spirometry results are still within normal range, the motion of the diaphragm is already reduced and the shape is more curved during inspiration. MRI can be used to detect early signs of diaphragmatic weakness in patients with Pompe disease, which might help to select patients for early intervention to prevent possible irreversible damage to the diaphragm.

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“…miR-365a-3p was predicted to be a downstream target of circRNA FUT10. Previously, miR-365a-5-3p was identified to be involved in cell proliferation [ 32 – 34 ]. We hypothesized that miR-365a-3p sponges circRNA FUT10 to inhibit SkMSC aging.…”

Section: Discussionmentioning

confidence: 99%

CircRNA FUT10 regulates the regenerative potential of aged skeletal muscle stem cells by targeting HOXA9

Zhu

Lian

Chen

et al. 2021

Aging

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Skeletal muscle is capable of repairing itself after injury to maintain the stability of its own tissue, but this ability declines with aging. Circular RNAs (circRNAs) are involved in cell aging. However, there is little research into their role and underlying mechanisms, especially in skeletal muscle stem cells (SkMSCs). In this study, we assessed circRNA FUT10 expression in aged and adult SkMSCs. We observed that circRNA FUT10 was upregulated in aged SkMSCs compared with that in adult SkMSCs. Furthermore, we identified putative miR-365-3p binding sites on circRNA FUT10, suggesting that this circRNA sponges miR-365a-3p. We also found that HOXA9 is a downstream target of miR-365a-3p and confirmed that miR-365a-3p can bind to circRNA FUT10 and the 3′-untranslated region of HOXA9 mRNA. This finding indicated that miR-365a-3p might serve as a “bridge” between circRNA FUT10 and HOXA9. Finally, we found that the circRNA FUT10/miR365a-3p/HOXA9 axis is involved in SkMSC aging. Collectively, our results show that the circRNA FUT10/miR365a-3p/HOXA9 axis is a promising therapeutic target and are expected to facilitate the development of therapeutic strategies to improve the prognosis of degenerative muscle disease.

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Imaging respiratory muscle quality and function in Duchenne muscular dystrophy

Cited by 26 publications

References 37 publications

Thoracoabdominal asynchrony and paradoxical motion in Duchenne muscular dystrophy and healthy subjects during cough: A case control study

Thoracoabdominal asynchrony and paradoxical motion in Duchenne muscular dystrophy and healthy subjects during cough: A case control study

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

CircRNA FUT10 regulates the regenerative potential of aged skeletal muscle stem cells by targeting HOXA9

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