Gianfranco Scotto di Frega

Mouthpiece ventilation in neuromuscular disease

Introduction: Ventilation with mouthpiece is used since 1990 and there are evidence in literature documenting effectiveness of treatment and increase compliance by the patient. Despite this, there is little knowledge and praticality of the use of non invasive mechanical ventilation (NIV) via a simple mouthpiece. Objective: To evaluate feasibility of mouthpiece ventilation (MPV) in patients with different neuromuscular disease who require NIV and were non compliant. Methods: we treated 3 patient with amyotrophic lateral sclerosis, 1 with Steiner syndrome, 3 with Duchenne dystrophy, 2 with quadriplegia due to spinal cord lesions. All patients were non compliant to NIV and previously refused NIV for claustrophobia, skin breakdowun, conjunctivitis and gastric distension. Each patient was reassessed and was proposed a new trial in NIV with the mouthpiece. Results: All patients tolerated treatment with MPV. The preferred mode was pressure control, inspiratory pressure was set beetween 10- 16, wich ensured an optimal tidal volume (8-10 mL/kg); no back up rate is needed for daytime use so no air blows into the patient9s face. Two patients presented sleep apoea syndrome with secondary respiratory failure, during night time were treated with spontaneous timed mode. Discussion: The mouthpiece should alvays be considered for patient with neuromuscular disease that has to start NIV; it is useful to promote a positive approach and a rapid acceptance of the new condition; it should be considered for patients poorly tolerant to NIV or use NIV many hours a day sometimes alternatin with the nasal or fullface mask. In our experience MPV alone or combined with other interfaces improves the quality of patient9s life and promotes greater adherence to NIV.

Mouthpiece ventilation in Duchenne muscular dystrophy

Introduction: Patient affected by Duchenne muscular dystrophy does not accept easily the noninvasive mechanical ventilation, due to claustrophobia or anxiety of not being able to call a family member. In our experience appropriate interface selection is crucial for successful NIV. Nasal and oro-nasal masks are the most practical as well as the most commonly used for the NIV. The main limitations of these interfaces are claustrophobia, discomfort and skin lesions. Methods: We evaluated six young patients with Duchenne muscular dystrophy, mean age 18,5 y, who previously had not toleraed NIV. Each patient was reassessed and was proposed a new trial in NIV with the mouthpiece (MPV). Results: All patients tolerated treatment with NIV/MPV. After an initial phase of adaptation to the ventilation mouthpiece during daytime hours, two patients also accept ventilation with nasal mask during the night hours. Conclusion: The use of this interface and MPV modality has allowed us to treat patients who had previously refused nasal, oral or oro-nasal interface for tightness or claustrophobia. Two patients who required NIV overnight, subsequently accepted also the treatment by nasal mask during the night hours. This probably because the use of ventilation mouthpiece during daytime hours improved the feeling of patient safety. This interface should always be considered for patients that has to start NIV; it is useful to promote a positive approach and rapid acceptance of the new condition. Mouthpiece can be very valuable, particularly in patients who use the NIV many hours a day and presenting skin lesions, gastric distension or eye irritation, sometimes alternating with the nasal mask mouth and nose.

HFNC: A new therapeutic approach in patients with chronic heart failure and Cheyne-Stokes breathing

Introduction: About 40% of patients with chronic heart failure has Cheyne-Stokes breathing with central apneas (CSR-CSA), with a worse prognosis. The CPAP is the most widely used treatment, although not always effective or not tolerated. Recently it has been developed a new technology (HFNC); it provides high-flow ambient air or mixtures of air and oxygen through a nasal cannula. Aims and objectives: Because of the benefical pathophysiological effects on the cardiovascular, respiratory and nervous systems, purpose of our study was to evaluate the effectiveness of HFNC treating CSR-CSA in patients with HF and intolerance to CPAP or where the CPAP treatment resulted ineffective at correcting all night events. Methods: We evaluated 21 patients with chronic HF, LVEF Results: In this study we showed that therapy with HFNC in non responders or not-tolerant to CPAP, it is as effective as CPAP in responding patients, and not only improves immediately the degree of central apneas up the value considered protective (AHI<15/h), but enhances the long-term function of the left ventricle. Conclusions: Therefore, HFNC could be a viable alternative to CPAP in patients with heart failure and syndrome of central apneas that are not tolerant and not responsive to CPAP.

Effectiveness of Bronchodilator Therapy on Dyspnoea After Total Laryngectomy

Objective: The aim of this study was to evaluate the effects of long-term bronchodilators (six months of treatment) by performing a functional assessment and determining the degree of breathlessness in a group of laryngectomies. Materials and Methods: We evaluated 93 outpatient laryngectomies by means of spirometry (extra-tracheal device); the mMRC scale was administered to determine the degree of dyspnoea. When appropriate, we began treatment with bronchodilators according to measured bronchial obstruction and repeated the test after six months of therapy. Results: Patients undergoing total laryngectomy very often develop clinically evident bronchoconstriction and severe dyspnoea over the long term. In laryngectomies, the prevalence of airway obstruction is high (about 60%) and the incidence of dyspnoea is also very high (51 out of 62). Conclusion: Bronchodilator therapy improved pulmonary function and dyspnoea within 180 days of treatment. The possibility of evaluating and quantifying the degree of obstruction allows optimization of drug therapy.

Sleep Abnormalities and Sleep Breathing Disorders in Children with Drug-Resistant Catastrophic Epileptic Encephalopathy

Undiagnosed obstructive sleep apnoea is common in patients with medically refractory epilepsy. The aim of this study is to evaluate sleep alterations and the prevalence of Sleep Breathing Disorders (SBD) in a paediatric population with catastrophic epileptic encephalopathy. To diagnose SBD, polysomnography (PSG) was performed in eleven patients (nine males, two females), with ages ranging between 3 and 11 years old, with epileptic encephalopathy characterized by drug-resistant seizures, occurring both in sleeping and waking, mental retardation and cerebral palsy. All the patients presented alterations of the sleep architecture and were positive for SBD. In particular, seven patients presented a severe form of Obstructive Sleep Apnoea Syndrome (OSAS) with apnoea/ hypopnea index (AHI) greater than10/hr, two patients presented a moderate form with AHI between 5/hr and 10/hr, two patients presented a mild form with AHI lower than 4/hr. In conclusion, SBD and sleep disruption appeared to be in comorbidity with catastrophic epileptic encephalopathy. Their treatment might also have a positive impact in seizures control and quality of life.

Overlap: Asthma and sleep apnea syndrome

Introduction: often, asthma and sleep apnea syndrome coexist; the overlap of the two diseases makes necessary the treatment of both conditions. Objective: to evaluate the effects of bronchodilator therapy on nocturnal non invasive ventilation (NIV) in patients with asthma and sleep apnea syndrome. Methods: we studied diurnal and nocturnal respiratory function in 45 patients with asthma and sleep apnea syndrome moderate/ severe. Patients were subjected to polysomnography in NIV. These patients received obstructive sleep apnea test (OSAS test) and asthma control test (ACT). Bronchodilator therapy was optimized according to GINA guidelines, and after 30 days, we revaluated patients with new polysomnography and OSAS and ACT test. Results: the data showed that 60% of patients had poor control of symptoms and poor adherence to therapy night with an average time of use of the device 4 hours per night, SpO2 average of 93%, index of desaturation/hour of 16.2. Conclusions: patients affected by asthma in comorbidity with sleep apnea, have a worse quality of life for the coexistence of similar symptoms; Because of the increasing number of patients with overlap syndrome, the correct treatment of asthma, and nocturnal syndrome overlapped is the only valid therapeutic option. Bronchodilator therapy unoptimized can interfere with therapy in NIV, and if not, therefore, encourage adherence to NIV and improve their effectiveness.

Enfisema pulmonar intersticial tras una espirometría en el síndrome combinación de fibrosis pulmonar y enfisema

Interstitial emphysema (IE) is an uncommon lung disease associated with barotrauma, and is seen almost exclusively in neonates with respiratory distress syndrome. It is caused by the invasion of gas into the pulmonary interstitial space surrounding the bronchovascular bundles due to sudden changes in lung volumes and transpulmonary pressure. Secondary changes in the alveolar sacs cause the alveolar septa to rupture.1 The difference in pressure, always greater in the alveolar compartment than in the mediastinum, increases the flow of gas bubbles to the mediastinal compartment, producing pneumomediastinum. The effect of gravity causes the bubbles to rise to the neck, producing subcutaneous emphysema. We report the case of a 65-year-old man, former smoker (30 pack-years), with upper lobar emphysema and lower lobar fibrosis (combination of pulmonary fibrosis and emphysema [CPFE]). He presented in the hospital with worsening dyspnea at rest. On admission, he had intense tachypnea (32 breaths per minute) due to severe hypoxemia (38.5 mmHg) and a heart rate of 90 beats per minute. Images from a high resolution computed tomography (HCRT) scan of the chest performed 1 year previously (not attached) showed significant involvement of the lung architecture with patterns of emphysema and concomitant fibrosis. Clinical diagnostic procedures were completed with full lung function tests (LFT) and spirometry. Approximately 4 hours after spirometry, another chest HRCT was performed to compare the resulting morphological functional data with the previous examination. Unexpectedly, the repeat HRCT showed a significant amount of air in the mediastinal compartment (pneumomediastinum), and small gas bubbles were seen in the pulmonary interstitial space surrounding the bronchovascular bundles, attributed, in the absence of pneumothorax, to IE (Fig. 1). The patient had no signs of worsening chest pain or dyspnea after the HRCT or in the following hours. After 10 days of complete bed rest, another HRCT was performed, showing almost complete reabsorption of the air in the mediastinum and surrounding the bronchovascular bundles. Episodes of this kind occurring after a routine spirometry are very rare, even in patients with a clinical history of CPFE. Apart from acute barotrauma in neonatal or pediatric patients, particularly in premature babies with respiratory distress syndrome treated with mechanical ventilation or patients with surfactant deficiency,2 few cases of IE have been described in the literature. This acute