The sleep breathing disorders (SDB) include obstructive sleep apnea (OSA), central sleep apnea disorders, sleep related hypoventilation disorders, and sleep related hypoxemia disorder in international classification of sleep diseases 3rd edition (ICSD-3). Latest diagnosis criteria are introduced. Treatments, which target to Individual contributors, should be applied. Thus identification of the phenotype in patients with OSA is important. The methods of evaluation patients' arousal thresholds, loop gain as well as neuromyopathy in clinical setting are reported. Several new treatment strategies are developed and applied for OSA. Long term follow up and more data are needed for evaluation the outcomes of hypoglossal nerve stimulation, bariatric surgery as well as medicine as treatments for OSA.
Humans ; Sleep Apnea Syndromes ; diagnosis ; therapy ; Sleep Apnea, Central ; Sleep Apnea, Obstructive

Treatment-emergent central sleep apnea (TECSA) is a specific form of sleep-disordered breathing, characterized by the emergence or persistence of central apneas during treatment for obstructive sleep apnea. The purpose of this review was to summarize the definition, epidemiology, potential mechanisms, clinical characteristics, and treatment of TECSA. We searched for relevant articles up to January 31, 2020, in the PubMed database. The prevalence of TECSA varied widely in different studies. The potential mechanisms leading to TECSA included ventilatory control instability, low arousal threshold, activation of lung stretch receptors, and prolonged circulation time. TECSA may be a self-limited disorder in some patients and could be resolved spontaneously over time with ongoing treatment of continuous positive airway pressure (CPAP). However, central apneas persist even with the regular CPAP therapy in some patients, and new treatment approaches such as adaptive servo-ventilation may be necessary. We concluded that several questions regarding TECSA remain, despite the findings of many studies, and it is necessary to carry out large surveys with basic scientific design and clinical trials for TECSA to clarify these irregularities. Further, it will be vital to evaluate the baseline demographic and polysomnographic data of TECSA patients more carefully and comprehensively.
Continuous Positive Airway Pressure ; Humans ; Lung ; Respiration ; Sleep Apnea, Central/therapy* ; Sleep Apnea, Obstructive

Humans ; Infant, Newborn ; Male ; Sleep Apnea, Central ; diagnosis ; therapy

Humans ; Sleep Apnea, Central/therapy* ; Hypoventilation/congenital* ; Homeodomain Proteins

Two children with late-onset congenital central hypoventilation syndrome were reported, one of whom was male and had no abnormal manifestations after birth, respiratory failure occurs at the age of 1 year and 6 months. After being hospitalized, he was treated with oxygen inhalation and non-invasive ventilation, but carbon dioxide retention could not be corrected. After one month of tracheal intubation, he was failure to wean from ventilator, so tracheostomy was performed. He needs a ventilator to help breath while sleeping, and can breath autonomously during the day without ventilator. The other case was a female, with no abnormalities after birth. At the age of 11 months, she developed respiratory failure. During sleep, the child needs non-invasive assisted ventilation through a nasal mask, and during the day, she breathed autonomously.Two patients were followed up forever 2 years and their growth and development were normal.
Humans ; Child ; Male ; Female ; Infant ; Sleep Apnea, Central/therapy* ; Respiration, Artificial ; Hypoventilation/congenital* ; Oxygen

Cheyne-Stokes Respiration ; physiopathology ; therapy ; Heart Failure ; complications ; physiopathology ; Humans ; Positive-Pressure Respiration ; methods ; Sleep Apnea, Central ; therapy ; Stroke Volume ; Ventricular Function, Left

OBJECTIVETo investigate clinical features and therapeutic methods of late-onset central hypoventilation syndrome.

METHODA nine-year old boy was trachea-intubated and mechanically ventilated because of pneumonia, respiratory and heart failure and pulmonary hypertension. It was found that hard to extubate the patient as he was breathing normally while awake but had shallow breathing, oxygen desaturation and CO2 retention when falling asleep. Nocturnal polysomnography together with transcutaneous CO2 supported the diagnosis of central hypoventilation. The final diagnosis was late-onset congenital central hypoventilation syndrome as the patient gained weight rapidly since 3 years of age and the brain magnetic resonance imaging (MRI) and genetic screening were unremarkable.

RESULTThe patient was treated with bi-level positive air pressure ventilation via nasal mask which showed good oxygen saturation and CO2 dropped down. The follow up study done one year later showed normal brain MRI, relief of pulmonary hypertension and better CO2 level in both awaken and sleeping status.

CONCLUSIONThe late-onset congenital central hypoventilation syndrome in this case had onset of symptoms at 2 years of age, he had normal breathing while he was awake but had oxygen desaturation and CO2 retention during sleep, therefore, respiratory support is required in severe cases. Mechanical ventilation via tracheotomy and non-invasive ventilation via mask are the major choice.

Blood Gas Analysis ; Carbon Dioxide ; blood ; Child ; Diagnosis, Differential ; Dyspnea ; diagnosis ; physiopathology ; therapy ; Follow-Up Studies ; Humans ; Hypoventilation ; blood ; diagnosis ; therapy ; Male ; Noninvasive Ventilation ; Oxygen ; blood ; Polysomnography ; Positive-Pressure Respiration ; methods ; Respiratory Insufficiency ; blood ; diagnosis ; therapy ; Retrospective Studies ; Sleep Apnea, Central ; blood ; diagnosis ; therapy ; Sleep Stages

OBJECTIVETo evaluate clinical characteristics and PHOX2B gene mutations in congenital central hypoventilation syndrome (CCHS) and to facilitate the early diagnosis and management of CCHS and reduce the misdiagnosis.

METHODClinical data of 3 infants with CCHS who had recurrent respiratory failure episodes and dependent on mechanical ventilation support in 3 from March 2008 to April 2012 were analyzed, and blood gas analysis was performed respectively in the awaken and sleeping status. Gene sequencing was used for detection of PHOX2B gene mutation.

RESULTAll the three patients had adequate ventilation during awaken time, but they presented with abnormal frequency and shallow breathing associated with alveolar hypoventilation after falling asleep. Blood gas analysis showed hypercapnia and CO2 partial pressure was consistently over 60 mm Hg (1 mm Hg = 0.133 kPa) after falling asleep, which is in accordance with the clinical features of CCHS. The PHOX2B gene sequencing showed that 6 GCN repeats were inserted at exon3 of PHOX2B in case 1, at same position, 5 GCN repeats were inserted in case 2 and 3.

CONCLUSIONNormal ventilation in awaken status while shallow slow breathing accompanied with hypercapnia in sleep are the main clinical characteristics of CCHS, which requires mechanical ventilation. Acquired mutation in exon 3 of PHOX2B gene encoding repeated GCN sequence seems to be the molecular etiology of these three patients.

Alanine ; genetics ; Blood Gas Analysis ; Carbon Dioxide ; blood ; DNA Mutational Analysis ; Exons ; Female ; Homeodomain Proteins ; genetics ; Humans ; Hypercapnia ; diagnosis ; etiology ; Hypoventilation ; congenital ; diagnosis ; genetics ; therapy ; Infant ; Infant, Newborn ; Male ; Mutation ; Oxygen Inhalation Therapy ; Polymerase Chain Reaction ; Polysomnography ; Respiration, Artificial ; Retrospective Studies ; Sleep Apnea, Central ; diagnosis ; genetics ; therapy ; Transcription Factors ; genetics