OBJECTIVE: To describe survival outcomes with noninvasive ventilation (NIV) for full ventilatory support, and a mechanically assisted cough and oximetry protocol in a series of patients with Duchenne muscular dystrophy. METHODS: We monitored end-tidal carbon dioxide (PETCO₂), SpO₂, vital capacity, maximum insufflation capacity, and cough peak flow. Nocturnal NIV was initiated for symptomatic hypoventilation. An oximeter and mechanically assisted cough device were prescribed when the patient's maximum assisted cough peak flow fell below 300 L/min. Patients used up to continuous NIV and mechanically assisted cough to return SpO₂ to ≥ 95% during intercurrent respiratory infections or as otherwise needed. We recorded respiratory and cardiac hospitalizations and mortality, and quantified survival by duration of continuous NIV dependence (ie, unable to maintain oxygenation without the ventilator). RESULTS: With advancing Duchenne muscular dystrophy, 101 nocturnal-only NIV users extended their NIV use throughout the daytime hours and required it continuously for 7.4 ± 6.1 years to 30.1 ± 6.1 years of age, with 56 patients still alive. Twenty-six of the 101 became continuously dependent without requiring hospitalization. Eight tracheostomized users were decannulated to NIV. Thirty-one consecutive unweanable intubated patients were extubated to NIV plus mechanically assisted cough. Of the 67 deaths (including 8 patients who died from heart failure before requiring ventilator use), 34 (52%) were probably cardiac, 14 (21%) were probably respiratory, and 19 (27%) were of unknown or other etiology. CONCLUSIONS: Continuous NIV along with mechanically assisted cough and oximetry as needed can prolong life and obviate tracheotomy in patients with Duchenne muscular dystrophy. Unweanable patients can be decannulated and extubated to NIV plus mechanically assisted cough.

There is general agreement that noninvasive ventilation (NIV) prolongs survival in amyotrophic lateral sclerosis (ALS) and that the main cause of NIV failure is the severity of bulbar dysfunction. However, there is no evidence that bulbar impairment is a contraindication for NIV. The aim of this study was to determine the effect of bulbar impairment on survival in ALS patients with NIV.ALS patients for whom NIV was indicated were included. Those patients who refused NIV were taken as the control group.120 patients who underwent NIV and 20 who refused NIV were included. The NIV group presented longer survival (median 18.50 months, 95% CI 12.62–24.38 months) than the no-NIV group (3.00 months, 95% CI 0.82–5.18 months) (p<0.001) and also in those patients with severe bulbar dysfunction (13.00 months (95% CI 9.49–16.50 months)versus3.00 months (95% CI 0.85–5.15 months), p<0.001). Prognostic factors for ALS using NIV, adjusted for NIV failure, were severity of bulbar dysfunction (hazard ratio (HR) 0.5, 95% CI 0.92–0.97; p=0.001) and time spent with oxygen saturation measured by pulse oximetry <90% (%sleepSpO₂<90) using NIV (HR 1.12, 95% CI 1.01–1.24; p=0.02).Severe bulbar impairment in ALS does not always prevent NIV from being used, but the severity of bulbar dysfunction at NIV initiation and %sleepSpO₂<90 while using NIV appear to be the main prognostic factors of NIV failure in ALS.

To describe the effect of glucocorticoid treatment on age at wheelchair dependence and at dependence on part-time (<23 hrs/day) and continuous noninvasive mechanical ventilation. In this retrospective study, patients with Duchenne muscular dystrophy who received glucocorticoid therapy were compared with those who did not for ages at wheelchair dependence and when beginning part-time (nocturnal) and continuous noninvasive intermittent positive pressure ventilation (NIV). Respiratory symptoms, end-tidal carbon dioxide, oximetry, and vital capacity were noted every 4-12 mos, and NIV was initiated for symptomatic nocturnal hypoventilation. The daily NIV use increased until some required it continuously to survive. The 117 untreated patients became wheelchair-dependent at 9.7 +/- 1.3 yrs of age. Four then died from cardiac failure, and five were older than 19 yrs without using NIV. The remaining 108 began nocturnal NIV at 19.2 +/- 3.7 yrs of age. Ninety of the 108 became continuously NIV-dependent at 21.9 +/- 4.5 yrs of age, and the 17 treated with glucocorticoid therapy became wheelchair-dependent significantly later at 10.8 +/- 1.3 yrs of age (P = 0.02). Three died from cardiac failure, and three were older than 19 yrs without using NIV. The remaining 11 began nocturnal NIV at 22.9 +/- 5.3 yrs of age (P = 0.05). Eight of the 11 became continuously NIV-dependent at age 28.9 +/- 7.3 yrs (P = 0.005). Intermittent glucocorticoid therapy delays wheelchair dependence and may delay ventilator dependence for patients with Duchenne muscular dystrophy.

Achalasia is a common adult disorder that rarely manifests in children and infrequently can be associated with pulmonary nontuberculous mycobacteria infections. We describe here the first case of Mycobacterium goodii pulmonary infection associated with achalasia in a pediatric patient. Heller myotomy with Dor fundoplication and 12 months of treatment with ciprofloxacin and doxycycline resulted in complete clinical and radiologic improvement.

BACKGROUND: Noninvasive ventilation (NIV) tolerance has been identified as an independent predictor of survival in amyotrophic lateral sclerosis (ALS). Volume control continuous mandatory ventilation (VC-CMV) NIV has been associated with poor tolerance. The aim of this study was to determine the tolerance of subjects with ALS to VC-CMV NIV. METHODS: This was a prospective study involving subjects with ALS who were treated with VC-CMV NIV. Respiratory and functional parameters were recorded when the subjects began ventilatory support. NIV tolerance was evaluated after 3 months. RESULTS: Eighty-seven subjects with ALS were included. After 3 months, 80 subjects (92%) remained tolerant of NIV. Tolerant subjects presented greater survival (median 22.0 months, 95% CI 14.78–29.21) than intolerant subjects (median 6.0 months, 95% CI 0.86–11.13) ( P = .03). The variables that best predicted NIV tolerance were mechanically assisted cough peak flow ( P = .01) and percentage of time spent with S pO ₂ < 90% at night while on NIV ( P = .03) CONCLUSIONS: VC-CMV NIV provides high rates of NIV tolerance in subjects with ALS. Mechanically assisted cough peak flow and percentage of time spent with S pO ₂ < 90% at night while using NIV are the 2 factors associated with tolerance of VC-CMV NIV in subjects with ALS.

An increasing number of silicosis cases have been reported related to the use of silica agglomerates. Many studies agree on the severity of this disease, which often presents with severe clinical forms in young workers and after a short latency period. Are there differences in the composition of dust generated by cutting and polishing with silica agglomerates versus granite and marble? Does the use of water injection reduce the risk associated with the use of these materials? We carried out a comparative observational-analytical study, measuring the concentration of dust generated during different machining operations on three different materials: granite, marble, and silica agglomerates. The effect of water injection on dust generation was evaluated. Personal sampling pumps were used, connected to a cyclone with polyvinyl chloride filters. The flow rate of the pumps was adjusted using a piston flowmeter. Measurements with a cascade impactor were made to assess the size distribution of respirable crystalline silica particles within the respirable fraction. In addition, environmental measurements with a spectrometer were made. 10 tests were carried out on granite and silica agglomerates for each procedure. In the case of marble, with very low silica content, only 2 tests of each type were carried out. Duration of each measurement was between 6 and 25 min. Cleaning times were set for each of the operations. The amount of dust collected in the respirable fraction was 70.85, 32.50 and 35.78 mg/m³ for dry cutting; 6.50, 3.75 and 3.95 mg/m³ for wet cutting; and 21.35, 13.68 and 17.50 mg/m³ for dry polishing, for granite, marble, and silica agglomerates respectively. Dry procedures in marble, silica agglomerates and granite showed higher dust concentration of particles smaller than 0.5 μm. Silica agglomerates showed higher concentrations of respirable crystalline silica particles than granite and marble, mainly with dry procedures. The greater production of small particles in dry and wet procedures with silica agglomerates shows that water injection is an insufficient preventive measure.