Nocturnal Non-invasive Ventilation Research Articles

Ventilation non invasive à domicile chez des patients BPCO sévères hypercapniques (étude SOMNOVENT’)

Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality, especially in cases of chronic hypercapnic respiratory failure. Following a prolonged debate, the indication and benefits of noninvasive ventilation (NIV) have been recently established. Although improved ventilation and reduction in hyperinflation appear to underlie the positive effect on NIV in COPD, only a few studies have focused on specific ventilatory algorithms for improving PaCO2. The main objective of this study is to analyze the impact of Löwenstein's ventilatory algorithms, supposed to allow a better management of hyperinflation and its consequences on alveolar ventilation and blood gas parameters. This is an interventional study in routine care, prospective, single blind, randomized with cross over. The primary endpoint will be the transcutaneous partial pressure of nocturnal carbon dioxide. Secondary endpoints will be: abnormal respiratory events occurring during nocturnal NIV; the objective quality of sleep via polysomnography; the tolerance of ventilation and the subjective quality of sleep evaluated by auto questionnaires. The results of this study will clarify whether is it necessary to explore more the impact of the ventilatory modes developed by Löwenstein, dedicated to hypercapnic COPD patients, requiring a long-term NIV.

Respiratory support in COPD patients after acute exacerbation with monitoring the quality of support (Rescue2-monitor): an open-label, prospective randomized, controlled, superiority clinical trial comparing hospital- versus home-based acute non-invasive ventilation for patients with hypercapnic chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) is expected to be the 3rd leading cause of death worldwide by 2020. Despite improvements in survival by using acute non-invasive ventilation (NIV) to treat patients with exacerbations of COPD complicated by acute hypercapnic respiratory failure (AHRF), these patients are at high risk of readmission and further life-threatening events, including death. Recent studies suggested that NIV at home can reduce readmissions, but in a small proportion of patients, and with a high level of expertise. Other studies, however, do not show any benefit of home NIV. This could be related to the fact that respiratory failure in patients with stable COPD and their response to mechanical ventilation are influenced by several pathophysiological factors which frequently coexist in the same patient to varying degrees. These pathophysiological factors might influence the success of home NIV in stable COPD, thus long-term NIV specifically adapted to a patient’s “phenotype” is likely to improve prognosis, reduce readmission to hospital, and prevent death. In view of this conundrum, Rescue2-monitor (R2M), an open-label, prospective randomized, controlled study performed in patients with hypercapnic COPD post-AHRF, will investigate the impact of the quality of nocturnal NIV on the readmission-free survival. The primary objective is to show that any of 3 home NIV strategies (“rescue,” “non-targeted,” and “targeted”) will improve readmission-free survival in comparison to no-home NIV. The “targeted” group of patients will receive a treatment with personalized (targeted) ventilation settings and extensive monitoring. Furthermore, the influence of comorbidities typical for COPD patients, such as cardiac insufficiency, OSA, or associated asthma, on ventilation outcomes will be taken into consideration and reasons for non-inclusion of patients will be recorded in order to evaluate the percentage of ventilated COPD patients that are screening failures. ClinicalTrials.gov NCT03890224. Registered on March 26, 2019.

Phrenic Nerve Involvement in Neuralgic Amyotrophy (Parsonage-Turner Syndrome).

Neuralgic amyotrophy is a poorly understood neuromuscular disorder affecting peripheral nerves mostly within the brachial plexus distribution but can also involve other sites including the phrenic nerve. In the classic form of the syndrome it causes proximal upper limb and neck pain on the affected side with subsequent muscle weakness that can be highly heterogeneous. Nocturnal noninvasive ventilation support is a first-line treatment after phrenic mononeuropathy. The regular monitoring of diaphragm function with spirometry and diaphragm ultrasound can help determine prognosis and inform decision-making.

REFRACTORY RELAPSING POLYCHONDRITIS: WHAT SHOULD A PULMONOLOGIST DO?

SESSION TITLE: Fellows Pulmonary Manifestations of Systemic Disease Posters SESSION TYPE: Fellow Case Report Posters PRESENTED ON: October 18-21, 2020 INTRODUCTION: Relapsing polychondritis (RP) is a rare systemic disease characterized by recurrent episodes of inflammation, which can result in degeneration and deformation of the cartilage of the ears, nose, larynx, and tracheobronchial tree. The incidence of RP is 0.7-4.5 per million people with a 20-50% prevalence of respiratory impairment. Airway involvement portends a poor prognosis in this disease, and reporting of cases is beneficial to educate pulmonologists about the importance of a multidisciplinary team in managing patients with RP. CASE PRESENTATION: A 23-year-old female with relapsing polychondritis, subglottic stenosis, and tracheal stenosis status post tracheostomy on chronic immunosuppression with dapsone, mycophenolate, and prednisone presented with worsening shortness of breath despite steroid injections for subglottic stenosis. CT chest demonstrated tracheal narrowing with significant wall thickening of the bilateral mainstem bronchi. She underwent bronchoscopy, which demonstrated erythema in the trachea with loss of the cartilaginous rings, mucosal thickening extending to the bilateral mainstem bronchi including LC2 and RC1, and normal distal bronchi. Even with PEEP, she had complete collapse of the bilateral mainstem bronchi with expiration. Her prednisone dose was increased, but her shortness of breath persisted. Her FEV1 was 46% predicted and FEV1/FVC was 49% predicted on pulmonary function testing. Due to worsening dyspnea at rest, she underwent repeat bronchoscopy 3 months later which demonstrated slightly worsening of inflammation in her mainstem bronchi. She was started on Actemra by rheumatology with subjective improvement in her shortness of breath within 3 weeks. Polysomnography was ordered to try to qualify her for nocturnal non-invasive ventilation. After discussion with otolaryngology, it was decided to not pursue further bronchoscopy for airway evaluation due to concern that bronchoscopy would cause worsening of inflammation of her airways over time. DISCUSSION: Management of refractory RP is challenging for the pulmonologist because there are not evidence based guidelines to follow. Based on expert opinion, pulmonary function testing with flow volume loops is recommended in all patients with RP to characterize airway involvement in symptomatic patients. For the treatment of tracheomalacia, intralesional corticosteroid injections and tracheostomy can be warranted. Tracheobronchial stenting can be helpful, but it also risks worsening of airway inflammation. Thus, a team-based approach is helpful to weigh the risks and benefits of treatment options to determine the best care for the patient with worsening symptoms. CONCLUSIONS: Relapsing polychondritis is a rare disease which is challenging to treat due to a lack of evidence based guidelines. Leveraging the expertise of otolaryngology, pulmonology, and rheumatology is helpful to guide symptomatic management. Reference #1: Lekpa FK, Chevalier X. Refractory relapsing polychondritis: challenges and solutions. Open Access Rheumatol. 2018;10:1-11. Published 2018 Jan 9. doi:10.2147/OARRR.S142892 Reference #2: Ernst A, Rafeq S, Boiselle P, et al. Relapsing polychondritis and airway involvement. Chest. 2009;135(4):1024-1030. doi:10.1378/chest.08-1180 Reference #3: de Montmollin N, Dusser D, Lorut C, et al. Tracheobronchial involvement of relapsing polychondritis. Autoimmun Rev. 2019;18(9):102353. doi:10.1016/j.autrev.2019.102353 DISCLOSURES: No relevant relationships by Maureen McElligott, source=Web Response

Obesity Hypoventilation: Traditional Versus Nontraditional Populations.

Obesity hypoventilation syndrome is the most frequent cause of chronic hypoventilation and is increasingly more common with rising obesity rates. It leads to considerable morbidity and mortality, particularly when not recognized and treated adequately. Long-term nocturnal noninvasive ventilation is the mainstay of treatment but evidence suggests that CPAP may be effective in stable patients. Specific perioperative management is required to reduce complications. Some unique syndromes associated with obesity and hypoventilation include rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD), and Prader-Willi syndrome. Congenital central hypoventilation syndrome (early or late-onset) is a genetic disorder resulting in hypoventilation. Several acquired causes of chronic central hypoventilation also exist. A high level of clinical suspicion is required to appropriately diagnose and manage affected patients.

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

ObjectiveTo characterize natural history of Laminin‐α2 related muscular dystrophies (LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering.MethodsWe conducted a retrospective, single‐center, cross‐sectional and longitudinal study on 46 LAMA2‐RD pediatric patients (37 families). Patients were seen at the Dubowitz Neuromuscular Centre, London between 1985 and 2019. Data were collected by case note reviews. Time‐to‐event analysis was performed to estimate median age at complications occurrence.ResultsForty two patients had complete deficiency of Laminin‐α2 (CD) and four had partial deficiency (PD). Median age at first and last assessment was 2 years and 12.1 years, respectively. Median follow‐up length was 7.8 years (range 0‐18 years). Seven CD patients died at median age 12 years. One CD and two PD subjects achieved independent ambulation. We observed a linear increase in elbow flexor contractures in CD subjects. Thirty‐two CD and one PD patient developed scoliosis, nine underwent spinal surgery. Twenty‐two CD required nocturnal noninvasive ventilation (median age 11.7 years). CD subjects showed a 2.9% linear annual decline in forced vital capacity % predicted. Nineteen CD and one PD patient required gastrostomy insertion for failure to thrive and/or unsafe swallow (median age 10.9 years). Four CD patients had partial seizures. Mild left cardiac ventricular dysfunction and rhythm disturbances were identified in seven CD patients.InterpretationThis retrospective longitudinal study provides long‐term natural history of LAMA2‐RD. This will help management and identification of key milestones of disease progression that could be considered for future therapeutic intervention.

Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.

Introduction: Mitochondrial myopathy in children has notable clinical and genetic heterogeneity, but detailed data is lacking.Patients and Methods: In this study, we retrospectively reviewed the clinical presentation, laboratory investigation, genetic and histopathological characteristics, and follow-ups of 21 pediatric mitochondrial myopathy cases from China.Results: Twenty-four patients suspected with mitochondrial myopathy were enrolled initially and 21 were genetically identified. Fourteen patients were found to harbor mitochondrial DNA point mutations (14/21, 66.7%), including m.3243A>G (9/15, 60%), m.3303C>T (2/15, 13.3%), m.3302A>G (1/15, 6.7%), m.3250T>C (1/15, 6.7%), m.3251A>G (1/15, 6.7%), of whom 12 patients presented with progressive proximal mitochondrial myopathy (12/14, 85.7%). Three patients revealed large-scale deletion in blood or muscle tissue (3/21, 14.3%), presenting with Kearns-Sayer syndrome (1/3, 33.3%) or chronic progressive external ophthalmoplegia (2/3, 66.7%). Four patients were found to harbor pathogenic nuclear gene variants (4/21, 19.0%), including five variants in TK2 gene and two variants in SURF1 gene. During the follow-ups up to 7 years, 10 patients developed cardiomyopathy (10/21, 47.6%), 13 patients occurred at least once hypercapnic respiratory failure (13/21, 61.9%), six experienced recurrent respiratory failure and intubation (6/21, 28.6%), eight patients failed to survive (8/21, 38.1%). With nocturnal non-invasive ventilation of BiPAP, three patients recovered from respiratory failure, and led a relative stable and functional life (3/21, 14.3%).Conclusion: Mitochondrial myopathy in children has great clinical, pathological, and genetical heterogeneity. Progressive proximal myopathy is most prevalent. Mitochondrial DNA point mutations are most common. And respiratory failure is a critical risk factor of poor prognosis.

Critically appraised paper: In people with chronic obstructive pulmonary disease, initiation of nocturnal non-invasive ventilation at home is non-inferior to initiation during a hospital admission [synopsis

Critically appraised paper: In people with chronic obstructive pulmonary disease, initiation of nocturnal non-invasive ventilation at home is non-inferior to initiation during a hospital admission [synopsis

Critically appraised paper: In people with chronic obstructive pulmonary disease, initiation of nocturnal non-invasive ventilation at home is non-inferior to initiation during a hospital admission [commentary

Critically appraised paper: In people with chronic obstructive pulmonary disease, initiation of nocturnal non-invasive ventilation at home is non-inferior to initiation during a hospital admission [commentary

Intrathecal baclofen pump replacements under local anaesthetic: rapid pathway implementation under COVID-19

Intrathecal baclofen pump replacements under local anaesthetic: rapid pathway implementation under COVID-19

In COPD, Nocturnal Noninvasive Ventilation Reduces the FIO2 Delivered Compared With Long-Term Oxygen Therapy at the Same Flow.

Nocturnal noninvasive ventilation is recommended for patients with hypercapnic COPD. Long-term oxygen therapy improves survival in patients with hypoxemic disease. However, leaks during noninvasive ventilation are likely to reduce the fraction of inspired oxygen. To compare nocturnal inspired O2 fractions during noninvasive ventilation with daytime pharyngeal inspired O2 fractions during nasal cannula oxygen therapy (with the same O2 flow) in patients with COPD at home (ie, real-life conditions). This single-center prospective observational study included 14 subjects with COPD who received long-term O2 therapy. We analyzed pharyngeal inspired O2 fractions in the evening, with a nasopharyngeal probe (sidestream gas analyzer). The O2 flow was measured with a precision flow meter, at the usual flow. Then, the same O2 flow was implemented for noninvasive ventilation with a study's home ventilator. The all-night noninvasive ventilation parameters were delivered in pressure mode with a single-limb leaking circuit. Daytime and nighttime inspired O2 fractions were compared. The mean ± SD daytime pharyngeal inspired O2 fraction, measured with normobaric basal O2 flow, 0.308 ± 0.026%, was significantly higher than the mean ± SD nighttime inspired O2 fraction, measured during noninvasive ventilation (0.251 ± 0.011; P < .001). The nighttime inspired O2 fraction decreased with a modern noninvasive ventilation pattern, pressure target, and intentional leaks. This partial lack of O2 therapy is likely to be harmful. It might explain the poor results in all but 2 randomized controlled trials on long-term noninvasive ventilation in COPD. (ClinicalTrials.gov registration NCT02599246.).

Primary tracheocutaneous fistula closure with immediate transition to nocturnal noninvasive positive pressure ventilation in two children with Congenital Central Hypoventilation Syndrome

Transitioning children with Congenital Central Hypoventilation Syndrome (CCHS) from nocturnal invasive ventilation via tracheostomy to noninvasive positive pressure ventilation (NIPPV) is challenging due to the leak caused by the tracheocutaneous fistula (TCF), resulting in insufficient ventilation. Decannulation and primary closure of the TCF with immediate transition to nocturnal NIPPV was performed in two children with CCHS at a tertiary care children's hospital. Neither child developed significant adverse effects such as pneumomediastinum or pneumothorax. This technique is a novel approach that may improve decannulation outcomes and aid transition to NIPPV in this patient population.

Shrinking lung syndrome—a diagnostic dilemma: a case report

Background: Systemic lupus erythematosus (SLE) is a chronic inflammatory connective tissue disorder with multi-organ involvement. A rare complication of SLE is shrinking lung syndrome (SLS), characterized by progressive exertional dyspnoea, reduced lung volumes, and diaphragmatic elevation. Case Presentation: We report a case of SLS secondary to SLE, who required an extensive work up to exclude other more common causes of lung involvement in such a condition. This case report highlights the disease burden of SLS in a once active, independent young lady requiring nocturnal non-invasive ventilation (NIV) to relieve shortness of breath in a recumbent position. This patient had the triad of hypoxia at rest, type 2 respiratory failure, and diaphragmatic palsy. Several different immunomodulators were used initially with little success and it was not until she received six cycles of intravenous cyclophosphamide, that she no longer required NIV support, displayed improvements in pulmonary function tests and diaphragmatic motility and attained a normal lifestyle. Conclusion: The use of immunomodulators appeared to be particularly effective in restoring normal functional capacity in shrinking lung syndrome. However, the pathophysiology of this condition requires further studies.

Prolonged Ventilatory Support for Patients Recovering From Guillain-Barré Syndrome.

Recovery from Guillain-Barré syndrome (GBS) may be protracted, and patients may need prolonged ventilatory support. We present clinical data from a tertiary referral weaning center managing patients with GBS requiring prolonged ventilatory support. A retrospective review of patients managed in a 34-bed specialist ventilator weaning facility in London, United Kingdom, between 2006 and 2017. Data including demographics, initial presentation, and ventilatory support were collected. Functional recovery and outcome data were collected between 12 months and 3 years following disease onset. Twenty-nine patients with severe GBS requiring prolonged ventilation were included. In several patients, coexisting conditions or complications affected the course. Seventy-six percent (n = 22) were successfully weaned from invasive ventilation with a median time to tracheostomy decannulation of 193 days (range: 49-527 days). Use of noninvasive ventilation (NIV), as part of the weaning program, was applied in 59% (13/22), with 14% (3/22) requiring long-term nocturnal NIV. Twenty-four percent (7/29) were not decannulated, with 14% (4/29) supported on long-term invasive ventilation. Forty-five percent (10/22) weaned from invasive ventilation were able to achieve short distance-assisted ambulation. Mortality at 36 months was 17% (5/29), with 3 of these deaths occurring in patients invasively ventilated during their acute admission. GBS with severe respiratory muscle weakness and bulbar dysfunction may require prolonged invasive ventilation. However, there is potential for complete weaning from invasive mechanical ventilatory support with associated function recovery. These data highlight the importance of maintaining ongoing support and rehabilitation for patients with GBS requiring prolonged ventilation.

One-year outcome difference between good and poor non-invasive nocturnal ventilation (NINV) adapters in sleep apnea

One-year outcome difference between good and poor non-invasive nocturnal ventilation (NINV) adapters in sleep apnea

Distinctive features predict worse non-invasive nocturnal ventilation (NINV) adaptation

Distinctive features predict worse non-invasive nocturnal ventilation (NINV) adaptation

Gender differences in outcome, use and adaption to non-invasive nocturnal ventilation (Ninv) in obstructive sleep apnea (OSA) patients

Gender differences in outcome, use and adaption to non-invasive nocturnal ventilation (Ninv) in obstructive sleep apnea (OSA) patients

Prevalence of Obstructive Sleep Apnea in Patients With Acute Stroke

Background: Obstructive sleep apnea (OSA) is an eminently modifiable and emerging risk factor for acute stroke. This prospective study was conducted in a tertiary care center to estimate the proportion of OSA in patients presenting with acute stroke. Materials and Methods: Consecutive stable patients with acute stroke were included. Stroke severity, subtype, and anatomical location were classified using standardized scales. Included subjects were screened for OSA with a detailed history (intrusive snoring, witnessed apneas, and excessive daytime sleepiness), quantification of sleepiness (Epworth Sleepiness Scale), clinical examination, and level-3 polysomnography. OSA severity was quantified based on the Apnea–Hypopnea Index. Results: 104 clinically stable stroke patients (67 males and 37 females) were included in the study; mean age was 60.9±13.2 years. Most patients (92 [88.5%]) had ischemic stroke, 9 (8.7%) had hemorrhagic stroke, and 3 (2.9%) had a transient ischemic attack. Intrusive snoring was reported by 37 (35.6%) patients, excessive daytime sleepiness by 32 (30.8%) and witnessed apneas by 19 (18.3%) patients. On level-3 polysomnography, 74 (71.2%) patients were diagnosed to have OSA. Mild OSA was diagnosed in 34 patients, while moderate and severe OSA were diagnosed in 20 patients each. Conclusions: Our study has demonstrated a strong causal relationship between OSA and stroke, thus reinforcing the need to screen all patients with stroke for OSA. Timely institution of nocturnal noninvasive ventilation in stroke patients with OSA would help to reduce the effects of OSA on stroke morbidity and recurrence.

P.242Phenotypic variability in a cohort of patients with TTN-related congenital myopathy

The term `titinopathies' encompasses a heterogeneous group of myopathies caused by mutations in TTN. The most common resulting clinical picture is the congenital myopathy. The limb-girdle dystrophy and distal myopathy with onset during the adulthood are other well-known phenotypes related to TTN. A severe myocardiopathy is associated in some cases. Describing the clinical, histopathological, and molecular findings in patients with TTN-related congenital myopathy followed-up in our hospital. A retrospective descriptive study was conducted. Six patients with molecular diagnosis of TTN-related congenital myopathy were included. The onset was observed during the neonatal period in more than 80% of cases. Weakness was detected during the first year of life in the remaining patient. Axial weakness was observed in all the patients. Scoliosis was detected in 50%, whereas ophthalmoparesis/ophthalmoplegia was not showed by any patient. Autonomous ambulation was not acquired in 3 out of the 6 patients and one other patient lost this ability at 4 years of age. Respiratory involvement needing nocturnal non-invasive ventilation was observed in one patient. Cardiac involvement was not detected in any case. Creatin quinase levels were within the normal range in all the cases. The muscle biopsy findings were relatively heterogeneous, mainly characterized by the fiber size variability, internal nucleus, and cores. TTN-related congenital myopathy is characterized by the presence of a marked axial weakness that can lead to an early scoliosis. Roughly 50% of patients are not able to achieve an autonomous ambulation.

P.166Retrospective longitudinal study of patients with NEB-related nemaline myopathy in the United Kingdom

Recessive mutations in the NEB gene encoding nebulin are the most common known cause of nemaline myopathy (NEB-NM). Natural history studies on NEB-NM are limited and mostly focused on cross sectional data. We present a retrospective longitudinal study of 24 NEB-NM patients seen at the Dubowitz Neuromuscular Centre and the Evelina Children's Hospital, London. Age range was 2.93-27 years (median 17.34 yrs), follow up range 1.75-12.25 years (median 4.75 yrs), with a median of 5 yearly follow-up/patients (2-13 yrs). All patients were homozygous or compound heterozygous for 2 NEB variants. Altogether, 26 variants were identified, 4 missense, 17 frameshift, 5 splice site. Longitudinal motor function scores on the Hammersmith Functional Motor Scale were available for 13 patients, with a median of 4 assessments/child. Two patients with severe NEB-NM never sat independently, 2 with the typical form lost ambulation at 6 and 12 years, respectively. All other patients were ambulant at last follow-up. 17 patients (70%) developed scoliosis and/or kyphosis, 7 had spinal surgery at a median age of 15 years (11-16.42 yrs). Forced vital capacity % trends were available for 12 patients, with a median of 4 yearly measurements/child. 9/24 (37.5%) patients required nocturnal non-invasive ventilation at a median age of 8 years (2-18.5 yrs). Two patients with severe NEB-NM required tracheostomy before age 6 months and one, with typical form, after spinal surgery at 11 years. One patient died aged 19 years due to respiratory complications. Weight trends were available for 16 patients, with a median of 4.5 measurements/child. Gastrostomy was needed in 11/24 (46%) at a median age of 4 years (0-15.75 yrs). Statistical analysis is now in progress to describe trajectories and calculate estimated change/year of motor abilities, FVC and weight. This study expands knowledge on clinical course of NEB-NM and further emphasizes the importance of long-term multidisciplinary assessment and management.