Sleep Disordered Breathing in Duchenne Muscular Dystrophy

LoMauro, Antonella; D’Angelo, Maria Grazia; Aliverti, Andréa

doi:10.1007/s11910-017-0750-1

Cited by 27 publications

(11 citation statements)

References 113 publications

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“…Irreversible muscle degeneration and replacement by adipose and connective tissue occur with advancing age in DMD patients [37]. Obesity is common in DMD boys because of the forced continuous physical inactivity and long-term use of corticosteroid therapy [38]. These processes explain the excess of adipose tissue in the patients studied, which is related to the progression of the disease and the lifestyle associated.…”

Section: Discussionmentioning

confidence: 99%

Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy

et al. 2020

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The evaluation of fat-free mass (FFM) in patients with Duchenne muscular dystrophy (DMD) is useful to investigate disease progression and therapeutic efficacy. This study aimed to validate the Bioelectrical impedance (BIA) method compared with the dual-energy X-ray absorptiometry (DXA) for estimating the %FFM in boys with DMD. This is a cross-sectional study performed with children and adolescents diagnosed with DMD. Resistance and reactance were measured with a BIA analyzer, from which eight predictive equations estimated the %FFM. The %FFM was also determined by DXA and its used as a reference method. Pearson correlation test, coefficient of determination, the root-mean-square error, the interclass correlation coefficient, and linear regression analysis were performed between %FFM values obtained by BIA and DXA. The agreement between these values was verified with the Bland-Altman plot analysis. Forty-six boys aged from 5 to 20 years were enrolled in the study. All the equations showed a correlation between the %FFM estimated by BIA and determined by DXA (p < 0.05). The Bland-Altman method indicated that two equations have a significant bias (p < 0.05) and six equations showed no significant bias of %FFM (p > 0.05). However, one of them has high variation and wide limits of agreement. Five of eight %FFM predictive equations tested in DMD were accurate when compared with the DXA. It can be concluded that BIA is a validity method to evaluate patients with DMD.

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Section: Discussionmentioning

confidence: 99%

Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy

et al. 2020

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“…Dystrophin deficiency in DMD results in mechanical deficits in striated muscle [5]. Respiratory muscle weakness occurs in DMD, with major implications for respiratory control [37]. Inspiratory muscle strength declines with increasing age in DMD boys [6].…”

Section: Discussionmentioning

confidence: 99%

“…Inspiratory muscle strength declines with increasing age in DMD boys [6]. Respiratory disturbances are common during sleep, including hypoventilation [38,39] and apnoeic events [37,40,41]. The mdx mouse model of DMD has characteristics similar to DMD, including disruptions to normal breathing [12,[42][43][44] and diaphragm and pharyngeal dilator muscle weakness [12,15,16,32,45].…”

Section: Discussionmentioning

confidence: 99%

N-acetylcysteine Decreases Fibrosis and Increases Force-Generating Capacity of mdx Diaphragm

et al. 2019

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Respiratory muscle weakness occurs due to dystrophin deficiency in Duchenne muscular dystrophy (DMD). The mdx mouse model of DMD shows evidence of impaired respiratory muscle performance with attendant inflammation and oxidative stress. We examined the effects of N-acetylcysteine (NAC) supplementation on respiratory system performance in mdx mice. Eight-week-old male wild type (n = 10) and mdx (n = 20) mice were studied; a subset of mdx (n = 10) received 1% NAC in the drinking water for 14 days. We assessed breathing, diaphragm, and external intercostal electromyogram (EMG) activities and inspiratory pressure during ventilatory and non-ventilatory behaviours. Diaphragm muscle structure and function, cytokine concentrations, glutathione status, and mRNA expression were determined. Diaphragm force-generating capacity was impaired in mdx compared with wild type. Diaphragm muscle remodelling was observed in mdx, characterized by increased muscle fibrosis, immune cell infiltration, and central myonucleation. NAC supplementation rescued mdx diaphragm function. Collagen content and immune cell infiltration were decreased in mdx + NAC compared with mdx diaphragms. The cytokines IL-1β, IL-6 and KC/GRO were increased in mdx plasma and diaphragm compared with wild type; NAC decreased systemic IL-1β and KC/GRO concentrations in mdx mice. We reveal that NAC treatment improved mdx diaphragm force-generating capacity associated with beneficial anti-inflammatory and anti-fibrotic effects. These data support the potential use of NAC as an adjunctive therapy in human dystrophinopathies.

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“…Allen genannten Störungen gemeinsam ist, dass Schlaf insbesondere REM-Schlaf [7,8] die vulnerable Phase für den Beginn und im Verlauf für die Ausprägung der alveolären Hypoventilation darstellt. Im Verlauf der Erkrankungen generalisiert die Hypoventilation infolge von Anpassungsvorgängen der Atmungssteuerung zunehmend vom Schlaf in den Wachzustand [19]. Dem Phänomen Hyperkapnie können in jedem individuellen Einzelfall Kombinationen von verschiedenen Störungen zugrunde liegen.…”

Section: Ereigniserkennung Unter Nichtinvasiver Beatmung (Niv) In Abhunclassified

Respiratorische Ereigniserkennung unter nichtinvasiver Beatmung (NIV) in Abhängigkeit von der genutzten Flowmessung

et al. 2020

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Zusammenfassung Hintergrund Beim chronisch hyperkapnischem Atemversagen stellt die nächtliche nichtinvasive Beatmung (NIV) die Standardtherapie dar. Die Einstellung auf die NIV erfordert jedoch viel Erfahrung. Nur eine Polysomnografie (PSG) im Schlaflabor ermöglicht die genaue Analyse von residualen Obstruktionen der oberen Atemwege, zentralen Apnoen, Triggerfehlfunktionen und Leckagen. Die Flowmessung unter NIV ist technisch jedoch nicht einfach, insbesondere da normierte Schnittstellen zur Einbindung der Respiratoren in die PSG fehlen. Ziel der Arbeit Vergleich eines Druck‑/Flow-Monitors mit den Signalen aus den Schnittstellen der Respiratoren bezüglich der Erkennung sowohl von Apnoen/Hypopnoen als auch von NIV-spezifischen Ereignissen in der PSG. Methoden Retrospektiv wurden 20 Aufzeichnungen von Patienten unter NIV, die unter einem standardisierten Protokoll aufgezeichnet worden waren, erneut verblindet ausgewertet. Es erfolgte ein Vergleich der Auswertung dreier verschiedener Verfahren der Flowmessung (effortbasiert, Staudruckmessung, Schnittstelle) hinsichtlich der Häufigkeit von respiratorischen Ereignissen. Ergebnisse Durch eine einfach zu integrierende Staudruckmessung mittels Druck‑/Flow-Monitor waren signifikant weniger Ereignisse diagnostizierbar, als wenn der Flow über die Abdomen- und Thoraxgurte oder über die Schnittstelle zu den Respiratoren ermittelt wurde. Auch die NIV-induzierten Ereignisse wie Fehltriggerungen oder Leckagen ließen sich nur mittels der Schnittstelle zuverlässig erkennen. Schlussfolgerung Eine Messung des Flows mit einem Standard Druck‑/Flow-Monitor bietet keine ausreichend nachvollziehbaren Ergebnisse. Eine Einbindung des Beatmungsgeräts in die PSG über eine Schnittstelle ist daher zu fordern.

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Sleep Disordered Breathing in Duchenne Muscular Dystrophy

Cited by 27 publications

References 113 publications

Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy

Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy

N-acetylcysteine Decreases Fibrosis and Increases Force-Generating Capacity of mdx Diaphragm

Respiratorische Ereigniserkennung unter nichtinvasiver Beatmung (NIV) in Abhängigkeit von der genutzten Flowmessung

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