Highlights • Nocturnal hypercapnia may be present in daytime normocapnic neuromuscular patients. • Nocturnal hypercapnia seems to predict mechanical ventilation in follow-up. • Several cut-offs have ...been proposed to define nocturnal hypoventilation. • Peak TcCO2 should be the preferred criterion for nocturnal hypoventilation.
Abstract Background/objectives Muscular dystrophies are genetic muscle disorders, in which heart involvement and chronic respiratory impairment affect survival. Cardiac conduction disturbances ...require implantable cardiac pacemaker. Implantable defibrillators may also be necessary to prevent cardiac sudden death. The safety and risk of cardiac electronic devices' implantation are not known in patients with muscular dystrophy. We aimed to assess the risks related to cardiac implantable electronic devices (CIED) in muscular dystrophy patients ventilated by tracheostomy. Methods We reviewed all medical charts of neuromuscular patients and identified all CIED implantations of pacemakers (PM) or defibrillators (ICD) in patients ventilated using tracheostomy. Results Twelve device implantations were included, performed in 9 patients (5 DMD, 1 Becker muscular dystrophy and 3 DM1). Mean age was 39.9 years ± 13.0. All patients were wheel-chair bound and tracheotomized. Six pacemakers (PM) and 6 cardiac resynchronization (CRT) devices, including 2 defibrillators (CRT-D) were implanted. Following device implantation, two patients had a pneumothorax and one died from severe heart failure after an unsuccessful CRT implant attempt. Follow-up lasted up to 8 years (mean 2.6 ± 2.9 years), during which one patient presented a PM pocket infection, requiring PM explantation and epicardial reimplantation. Conclusion We found a high prevalence of early complications (16.6% pneumothorax) after CIED implantation and an acceptable long-term infectious risk (8.3%). These results highlight the feasibility of CIED implantation in tracheotomized patients with muscular dystrophies and the need for a particular caution in the management of these patients during invasive procedures. ClinicalTrials.gov (identifier: NCT02501083 ).
Highlights • Compliance with non-invasive ventilation is poor in patients with no subjective symptoms of hypercapnia. • Cessation is more frequent in the case of excessive leaks, ventilator ...dysfunction, or high body mass index. • Cessation is less frequent for patients with a professional occupation.
Abstract Background : Myotonic muscular dystrophy type 1 (MMD1) is the most common form of adult MD, with a mean prevalence of 1 in 8000. Excessive daytime sleepiness (ie, hypersomnia) is a common ...complication of MMD1. Objective : The aim of this study was to evaluate the efficacy and tolerability of modafinil for the treatment of hypersomnia in adults with MMD1. Methods : This multicenter, prospective, randomized, double-blind, placebo-controlled study consisted of a prerandomization period (90 to 2 days before randomization) and a 4-week randomization period in which patients were assigned to receive either active treatment (modafinil 300 mg/d) or placebo. The study was conducted at 3 clinics in France between February 2000 and June 2002. Adult patients aged ≥18 years, with genetically proven MMD1, an Epworth Sleepiness Scale (ESS) score >10, and a mean latency to sleep onset ≤8 minutes measured by the Multiple Sleep Latency Test (MSLT) were eligible. The primary efficacy end point was the Maintenance of Wakefulness Test (MWT) score at 4 weeks. Secondary end points included the mean MSLT score and scores from the ESS, physician's assessment of the therapeutic effect and the patient's global self-assessment via visual analog scale, the 17-item Hamilton Depression Rating Scale, and the Short Form Health Survey (SF-36) quality-of-life assessment. Results : A total of 28 patients (15 men, 13 women; mean SD age, 40 12.7 years range, 18–69 years; 100% white; modafinil group, 13; placebo group, 15) completed the study without protocol violations. Of the 28 patients with MMD1 included in the analysis, 21 had adult-onset MMD1. At 4 weeks, the mean MWT score was 16.4 (3.3) minutes in the modafinil group and 15.8 (3.8) minutes in the placebo group ( P = NS). At the end of the randomization period, there were no significant between-group differences in any secondary outcome. A total of 8 patients (4 in each group) reported ≥1 adverse event, including digestive, neurologic, and skin symptoms. Weight loss was reported in 1 patient (2 kg). Conclusion : In this small study conducted in an adult population with MMD1 and a high prevalence of hyper-somnia, modafinil had no significant effects on daytime somnolence measured using objective MWTs.
Objective Communication is a major issue for patients with tracheostomy who are supported by mechanical ventilation. The use of positive end-expiratory pressure (PEEP) may restore speech during ...expiration; however, the optimal PEEP level for speech may vary individually. We aimed to improve speech quality with an individually adjusted PEEP level delivered under the patient's control to ensure optimal respiratory comfort. Methods Optimal PEEP level (PEEPeff), defined as the PEEP level that allows complete expiration through the upper airways, was determined for 12 patients with neuromuscular disease who are supported by mechanical ventilation. Speech and respiratory parameters were studied without PEEP, with PEEPeff, and for an intermediate PEEP level. Flow and airway pressure were measured. Microphone speech recordings were subjected to both quantitative and qualitative assessments of speech, including an intelligibility score, a perceptual score, and an evaluation of prosody determined by two speech therapists blinded to PEEP condition. Results Text reading time, phonation flow, use of the respiratory cycle for phonation, and speech comfort significantly improved with increasing PEEP, whereas qualitative parameters remained unchanged. This resulted mostly from the increase of the expiratory volume through the upper airways available for speech for all patients combined, with a rise in respiratory rate for nine patients. Respiratory comfort remained stable despite high levels of PEEPeff (median, 10.0 cm H2 O; interquartile range, 9.5-12.0 cm H2 O). Conclusions Patient-controlled PEEP allowed for the use of high levels of PEEP with good respiratory tolerance and significant improvement in speech (enabling phonation during the entire respiratory cycle in most patients). The device studied could be implemented in home ventilators to improve speech and, therefore, autonomy of patients with tracheostomy. Trial registry ClinicalTrials.gov ; No.: NCT01479959; URL: clinicaltrials.gov
Percutaneous extracorporeal membrane oxygenation is an invasive technique that provides emergent circulatory support for patients with cardiogenic shock. We report a favorable outcome of an acute ...fulminant myocarditis in a 25-year-old myasthenia patient with cardiogenic shock supported by percutaneous extracorporeal membrane oxygenation.
