BACKGROUND: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting. There is still no effective therapy for Charcot-Marie-Tooth disease.
METHODS: The patient is a 6-year-old Iranian girl, of Fars ethnicity, who was admitted with a chief complaint of hoarseness and an impression of Charcot-Marie-Tooth disease type 4B. She was initially treated with noninvasive ventilation and, after a year, electively underwent cordotomy as a novel therapeutic approach.
CONCLUSIONS: Charcot-Marie-Tooth disease type 4B is a less common but important cause of stridor. Noninvasive ventilation treatment and unilateral posterior cordotomy can be utilized for hereditary neuropathies.

BACKGROUND: The benefits of non-invasive ventilation (NIV) in the treatment of several chronic and acute disorders are well documented. However, the side effects associated with this type of treatment must always be taken into account. Patients often fail to mention ocular symptoms.
METHODS: A male, 80 years old, autonomous in activities of daily living, with a personal history of chronic obstructive pulmonary disease (COPD) and chronic hypercapnic respiratory failure was admitted to the emergency room due to dyspnea and a depressed level of consciousness. The patient deteriorated to severe respiratory acidosis and was started on NIV. On the third day of admission there was note of significant ocular irritation in addition to a dermal lesion on the bridge of the nose. Ophthalmology reported a corneal ulcer and bilateral conjunctivitis and prescribed topical antibiotic and steroids, with improvement of the symptoms.
CONCLUSIONS: Ocular disorders in relation with NIV are more common than documented in clinical practice. It\'s essential that every professional that deals with this type of therapy is sensitive to the recognition and early diagnosis of this secondary effect, motivating timely evaluation. This case exemplifies the rapid onset of this type of complication, especially if the staff is poorly trained in NIV application and in patients with a decreased level of consciousness. Centers need to develop protocols to evaluate patients under NIV for ocular symptoms, with the goal of early therapeutic intervention. The creation and divulgation of these procedures will drastically improve the quality of care to acute and chronic patients in need of NIV.

UNASSIGNED: Continuous positive airway pressure (CPAP) is frequently prescribed for patients with residual obstructive sleep apnea (OSA) following adenotonsillectomy.
UNASSIGNED: The goal was to examine the efficacy of noninvasive ventilation with average volume-assured pressure support (AVAPS) as a potential option for children with failed CPAP titration.
UNASSIGNED: In a single-center retrospective study, we included children aged 1-17 years, with polysomnographically confirmed OSA who underwent AVAPS titration following failed CPAP titration. In addition to describing the clinical characteristics of the included patients, we compared polysomnographic parameters before and after AVAPS.
UNASSIGNED: Nine patients met the inclusion criteria; out of them, 8 (89%) were males with an age range of 6.7 ± 3.9 years and a body mass index percentile of 81.0 ± 28.9. Reasons for failed CPAP titration were: 3 (33%) patients due to inability to control apnea-hypopnea index (AHI), 3 (33%) patients due to sleep-related hypoventilation, 2 (22%) patients due to treatment-emergent central sleep apnea, and 1 (11%) patient due to intolerance to CPAP. AVAPS resulted in a greater reduction in AHI than CPAP (reduction following CPAP = 24.6 ± 29.3, reduction following AVAPS = 42.5 ± 37.6, p = 0.008). All patients had resolution of the problems which caused CPAP failure.
UNASSIGNED: In this case a series of children with OSA and with failed CPAP titration, AVAPS resulted in a greater reduction in AHI compared with CPAP as well as resolution of the problems which caused CPAP failure.

The use of high-flow nasal cannula (HFNC) in COVID-19 patients is a controversial topic due to the benefits and risks which may occur in patients and healthcare workers. The goal of this treatment modality is potential avoidance of invasive mechanical ventilation, but generation of aerosol and increased healthcare professional infection risk must be considered. We present a case of a SARS-CoV-2-positive 71-year-old male with acute hypoxemic respiratory failure, who was successfully treated with HFNC combined with prone positioning. Furthermore, we discuss recent literature concerning potential issues of HFNC treatment in COVID-19 patients.

We report a rare case of airway obstruction caused by megaesophagus associated with achalasia. A 78-year-old man was admitted with post meal dyspnea, decreased consciousness, expiratory and inspiratory wheezing, and respiratory distress. Arterial blood gas analysis showed findings of marked acute respiratory acidosis (pH 7.18, PaCO2 75 mmHg, PaO2 225 mm Hg, HCO3- 22 mmol/L). An emergency laryngoscopy was performed because of a suspected airway obstruction, but no abnormalities were observed from the airway to the glottis. Noninvasive positive pressure ventilation (NPPV) was immediately introduced, and the respiratory rate and breathing pattern was normalized. A chest X-ray showed an enlarged upper mediastinal outline and an ill-defined border of the trachea. A computed tomography (CT) scan showed an enlarged esophagus with a maximum diameter of 9.90 cm, compressing the trachea to the back of the sternal notch. Following removal of the esophageal contents using a nasogastric tube, NPPV was discontinued with no respiratory episodes. After he was stabilized, he was transferred to another hospital for endoscopic myotomy. In a review of the literature, we identified 66 cases of airway obstruction due to achalasia, mainly in older women. None of the patients received NPPV. As a differential diagnosis for acute airway obstruction, achalasia-related airway obstruction should be considered, particularly in older women. Furthermore, since this condition is suspected to involve tracheomalacia, NPPV may be a useful respiratory support therapy.

BACKGROUND: The optimal treatment for heart failure (HF) is a combination of appropriate medications. Controlling the disease using only medical therapy is difficult in patients with HF, severe hypercapnia, and desaturation. These patients should first receive ventilator support followed by pulmonary rehabilitation (PR).
METHODS: We report two cases in which arterial blood gas (ABG) improved and PR was possible with appropriate ventilator support. Two patients with extreme obesity complaining of worsening dyspnea-a 47-year-old woman and a 36-year-old man both diagnosed with HF-were hospitalized because of severe hypercapnia and hypoxia. Despite proper medical treatment, hypercapnia and desaturation resolved in neither case, and both patients were transferred to the rehabilitation department for PR. At the time of the first consultation, the patients were bedridden because of dyspnea. Oxygen demand was successfully reduced once noninvasive ventilation was initiated. As the patients\' dyspnea gradually improved to the point where they could be weaned off the ventilator during the daytime, they started engaging in functional training and aerobic exercise. After 4 mo of follow-up, both patients were able to perform activities of daily living and maintain their lower body weight and normalized ABG levels.
CONCLUSIONS: Symptoms of patients with obesity and HF may improve once ABG levels are normalized through ventilator support and implementation of PR.

OBJECTIVE: To explore the characteristics and risk factors of facial pressure injuries in patients using noninvasive positive pressure ventilation.
METHODS: Patients who developed facial pressure injuries due to non-invasive positive pressure ventilation at a teaching hospital in Taiwan from January 2016 to December 2021 were selected, resulting in a total of 108 patients in our case group. A control group was formed by matching each case by age and gender to three acute inpatients who had used non-invasive ventilation but had not developed facial pressure injuries, resulting in 324 patients in the control group.
METHODS: This study was a retrospective case-control study. The characteristics of the patients who developed pressure injuries at different stages in the case group were compared, and the risk factors of non-invasive ventilation-related facial pressure injuries were then determined.
RESULTS: Higher duration of non-invasive ventilation usage, higher length of hospital stay, lower Braden scale score, and lower albumin levels in the former group. The results of multivariate analysis from binary logistic regression involving the duration of non-invasive ventilation usage demonstrated that the patients who used this device for 4-9 days and 16 days were at greater risk of facial pressure injuries than those who used it for 3 days; in terms of the Braden scale score, higher Braden scale scores were correlated with a higher risk of facial pressure injuries. In addition, albumin levels lower than the normal range were correlated with a higher risk of facial pressure injuries.
CONCLUSIONS: Patients with pressure injuries at higher stages had a higher duration of non-invasive ventilation usage, higher length of hospital stay, lower Braden scale scores, and lower albumin levels. Thus, a longer duration of non-invasive ventilation use, lower Braden scale scores, and lower albumin levels were also risk factors for non-invasive ventilation-related facial pressure injuries.
CONCLUSIONS: Our results serve as a useful reference for hospitals, both in creating training programs for their medical teams to prevent and treat facial pressure injuries and in drafting guidelines for assessing risk in order to prevent facial pressure injuries caused by non-invasive ventilation. The duration of device usage, Braden scale scores, and albumin levels in particular should be seriously monitored to reduce the occurrence of facial pressure injuries in acute inpatients treated with non-invasive ventilation.

Neuromuscular diseases (NMD) are indications for long-term home mechanical ventilation (HMV). Noninvasive ventilation is preferred to HMV. However, invasive mechanical ventilation (IMV) is more appropriate if the patient has uncontrollable airway secretions, the possibility of aspiration, failure to wean, or severe weakness of the respiratory muscles. But if the patient undergoes multiple intubation or tracheotomy, it will be more painful and unbearable. For some end-stage NMD patients who need long-term tracheostomy, HMV using noninvasive ventilator via tracheotomy may be a conservative care option. An 87-year-old male with myasthenia gravis underwent repeated IMV and failed to wean. We used a noninvasive ventilator connected to a tracheostomy tube for mechanical ventilation. One and a half years later, the patient weaned successfully. However, there was a lack of evidence-based medicine and standardized guidelines in such areas as indications, contraindications, and ventilator parameter setting. For the systematic review, a literature search was performed in PubMed, Embase, Cochrane, and CNKI (China National Knowledge Infrastructure) to identify reported cases of using noninvasive ventilator in patients undergoing tracheostomy. A total of 72 cases who performed ventilation via tracheotomy tube were identified. The main diagnoses included NMD, chronic obstructive pulmonary disease (COPD), pneumonia, and congenital central hypoventilation syndrome (CCHS). Indications included dysfunctional ventilatory weaning response (DVWR), apnea and cyanosis. Clinical outcome was as follows: 33 patients were weaned, and 24 patients underwent HMV. A total of 288 cases who performed ventilation through the mask after blocking the tracheostomy tube were identified. The primary diagnoses included COPD, NMD, thoracic restriction, spinal cord injured (SCI), and CCHS. Indications included DVWR, apnea and cyanosis, routine weaning. Clinical outcome was as follows: successful tracheostomy tube decannulations were performed in 254 patients and failed in 33 patients. So, in patients requiring HMV, selection of noninvasive ventilation (NIV) or IMV should be individualized. Tracheostomy preservation should be considered in some patients with advanced NMD if there is respiratory muscle weakness or the risk of aspiration. And attempts can be made to use a noninvasive ventilator because of its advantages of portability, ease of operation, and low cost. Noninvasive ventilators can be used in patients with tracheotomy, whether direct connection tracheotomy or mask ventilation after the tube is capped, especially in weaning and tracheostomy tube decannulation.

OBJECTIVE: This study aimed to investigate factors associated with facial pressure injury (FPI) in patients receiving non-invasive positive pressure ventilation (NIPPV) during hospitalisation in the intensive care unit (ICU) and to identify predictors of FPI.
BACKGROUND: Non-invasive positive pressure ventilation is a method of treating patients with acute and chronic respiratory failure. However, FPI may occur due to unsuitable nasal-oral NIPPV masks and discomfort in contact with the skin surface.
METHODS: A retrospective case-control study.
METHODS: From January 2018 to October 2020, a total of 397 patients admitted to a national hospital in Taiwan were enrolled. Patients received NIPPV and routinely used under-mask prophylactic dressings during hospitalisation. Patients were divided into the non-FPI group (n = 357) and the FPI group (n = 40). Demographic, clinical characteristics, acute physiology and chronic health evaluation II scores, and Braden Scale scores were collected from medical records. Logistic regression analysis was performed to examine the contribution of each factor to the FPI, and odds ratios were reported. The STROBE checklist was used in this retrospective case-control study.
RESULTS: There were significant differences between the groups in age, serum albumin, C-reactive protein, body mass index (BMI), disease severity, Braden Scale score, length of stay, duration of mechanical ventilation and use of corticosteroids. Logistic regression analysis revealed that the risk factor for FPI was the Braden Scale score [OR = 1.630 (1.176-2.260)], BMI [OR = 0.396 (0.210-1.784)] and corticosteroids [OR = 0.394 (0.159-1.811)], which were predictors of FPI in patients with NIPPV.
CONCLUSIONS: Facial pressure injury may still occur in patients who routinely use prophylactic dressings under NIPPV masks. This study provides information on continuing education training for FPI to more accurately identify high-risk and timely preventive measures to reduce FPI.
CONCLUSIONS: Addressing FPI-related factors to prevent facial skin damage and reduce comorbidities in patients using NIPPV masks.

UNASSIGNED: Perry syndrome is a rare autosomal dominant parkinsonian disorder characterized by respiratory failure. The variability in respiratory presentation in this condition is incompletely understood.
UNASSIGNED: We report 2 first-degree relatives with Perry syndrome attributed to the same mutation in the Dynactin 1 (DCTN1) gene. Their clinical presentations with respect to parkinsonism and respiratory failure were heterogeneous. The proband presented with acute respiratory failure requiring invasive ventilation on a background of parkinsonism and remains alive more than 3 years later with a good levodopa response. We contrast this with the published literature, in which acute respiratory presentations were associated with a poor outcome. The proband\'s brother presented with parkinsonism together with early falls and gait impairment and died following gradual hypoventilation despite noninvasive respiratory support.
UNASSIGNED: Perry syndrome can show intrafamily heterogeneity in both movement disorder and respiratory presentations. Acute respiratory failure is often but not always associated with a poor outcome.