To investigate the clinical characteristics of a patient with motor neuron disease, which caused sleep-disordered breathing (SDB) and alveolar hypoventilation syndrome, and to improve the diagnosis rate for this disease.
 Methods: Retrospectively analyze the diagnosis and treatment process for a 52 year-old male patient, who was accepted by the Second Xiangya Hospital, Central South University because of dyspnea, shortness of breath and malaise for 4 months, and eventually was diagnosed as motor neuron disease associated with obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome. In addition, we searched CNKI, Wanfang and PubMed databases to review relevant literature with keywords (motor neuron disease or amyotrophic lateral sclerosis or progressive bulbar palsy or progressive muscular atrophy or primary lateral sclerosis) AND (sleep apnea or sleep disordered breathing) from January 1990 to May 2017.
 Results: The major clinical manifestation of motor neuron disease included impaired upper and lower motor neuron displayed with proximal muscle weakness, muscle tremor, amyotrophy, bulbar symptoms and pyramidal sign. It was a chronic, progressive disease with worse prognosis, low survival and difficult in diagnosis. Electroneuromyography was a vital way for diagnosis. Furthermore, sleep disordered breathing was common in patients with motor neuron disease, which was featured as decreased rapid eye movement sleep, increased awaking time, apnea and hypopnea. The main mechanism for sleep disordered breathing in motor neuron disease might be due to the disturbed central nervous system and paralysis of diaphragm and respiratory muscle. Moreover, the patient suffered from restrictive ventilatory dysfunction, alveolar hypoventilation and subsequent partial pressure of carbon dioxide and hypoxemia. Therefore, respiratory failure was the most frequent cause of death for patients with motor neuron disease. Non-invasive positive pressure ventilation was suggested to apply to such patients, whose forced vital capability was less than 75 percent of predicted value.
 Conclusion: Sleep disordered breathing is common in patients with motor neuron disease. Hence, polysomnography is suggested as a routine examination to confirm the potential complications and give timely therapy. Treatment with non-invasive positive pressure ventilation is important for patients to improve life quality, survival rate and prognosis.

The hypothalamus is a higher center of the autonomic nervous system and maintains essential body homeostasis including respiration. The paraventricular nucleus, perifornical area, dorsomedial hypothalamus, and lateral and posterior hypothalamus are the primary nuclei of the hypothalamus critically involved in respiratory control. These hypothalamic nuclei are interconnected with respiratory nuclei located in the midbrain, pons, medulla and spinal cord. We provide an extensive review of the role of the above hypothalamic nuclei in the maintenance of basal ventilation, and modulation of respiration in hypoxic and hypercapnic conditions, during dynamic exercise, in awake and sleep states, and under stress. Dysfunction of the hypothalamus causes abnormal breathing and hypoventilation. However, the cellular and molecular mechanisms how the hypothalamus integrates and modulates autonomic and respiratory functions remain to be elucidated.

Obesity hypoventilation syndrome (OHS) is a major respiratory complication caused by severe obesity, being associated with significant morbidity, negative impacts on quality of life and reduced survival if not treated appropriately. Positive airway pressure therapy is the first-line treatment for OHS although the optimal modality remains unclear. The goal of this study is to identify the efficacy of home bilevel positive airway pressure therapy by comparison to continuous positive airway pressure therapy and determine the best strategy for patients with OHS.

A case of a young male patient, who came to the Second Xiangya Hospital, Central South University because of snoring for 10 years and nocturnal gatism for half month, was analyzed retrospectively. He was diagnosed as obstructive sleep apnea hypopnea syndrome (OSAHS) finally. The patient had been diagnosed and treated as stroke in the local hospital, while urinary and anal incontinence were not relieved. It was a dilemma for him to be properly diagnosed and treated. Polysomnography in our hospital revealed apnea hypopnea index (AHI) at 44.7 events/h, oxygen desaturation index (ODI) at 70.8 events/h and the longest apnea time at 185 seconds while the lowest blood oxygen saturation reduced to 31%. In addition, 413 events of apnea accounted for 61.2% of the sleep time and the minimal heart rate was 23 times/min. The patient was diagnosed as severe OSAHS with hypoxia metabolic brain disease, moderate pulmonary arterial hypertension, secondary polycythemia and obesity hypoventilation syndrome finally. He received the treatment of positive airway pressure non-invasive ventilator with an average pressure at 11.7 cmH2O with reduced AHI and increased blood oxygen saturation. The urinary and anal incontinence disappeared during the first night of treatment and it has been totally resolved so far. We considered that gatism was secondary to OSAHS with severe hypoxia resulted from attenuated regulation of primary defecation in the night. Physicians should pay attention to OSAHS when accepting obese patients with nocturnal incontinence, obvious daytime sleepiness and night snoring. Urinary and anal incontinence could be completely disappeared under therapy of positive airway pressure.

Anesthetic agents have been implicated in the causation of neurological and cognitive deficits after surgery, the exacerbation of chronic neurodegenerative disease, and were recently reported to promote the onset of the neurologic respiratory disease Congenital Central Hypoventilation Syndrome (CCHS), related to misfolding of the transcription factor Phox2B. To study how anesthetic agents could affect neuronal function through alterations to protein folding, we created neuronal cell models emulating the graded disease severity of CCHS. We found that the gas anesthetic isoflurane and the opiate morphine potentiated aggregation and mislocalization of Phox2B variants, similar to that seen in CCHS, and observed transcript and protein level changes consistent with activation of the endoplasmic reticulum (ER) unfolded protein response. Attenuation of ER stress pathways did not result in a correction of Phox2B misfolding, indicating a primary effect of isoflurane on protein structure. We also observed that isoflurane hindered the folding and activity of proteins that rely heavily on ER function, like the CFTR channel. Our results show how anesthetic drugs can alter protein folding and induce ER stress, indicating a mechanism by which these agents may affect neuronal function after surgery.

Respiratory acidosis is a state in which there is usually a failure of ventilation and an accumulation of carbon dioxide. The primary disturbance of elevated arterial PCO2 is the decreased ratio of arterial bicarbonate to arterial PCO2, which leads to a lowering of the pH. In the presence of alveolar hypoventilation, 2 features commonly are seen are respiratory acidosis and hypercapnia. To compensate for the disturbance in the balance between carbon dioxide and bicarbonate (HCO3-), the kidneys begin to excrete more acid in the forms of hydrogen and ammonium and reabsorb more base in the form of bicarbonate. This compensation helps to normalize the pH.

The hypereosinophilic syndrome is a rare disease characterized by the association between high absolute eosinophil count and eosinophil-mediated organ damage. We describe a case of a 70-year-old male with an absolute eosinophil count of 2130 cells/µL. Clinical symptoms and signs included the following: severe asthenia, axonal sensitive motor neuropathy, basal pleural effusion with signs of hypoventilation on chest radiography, and gastrointestinal symptoms such as severe diarrhea, weight loss (-10 kg in 6 months), abdominal pain, and vomiting. On physical examination he had an urticarial dermatitis on his back, abdomen, and lower limbs. An extensive instrumental and laboratory diagnostic workup was performed. When all causes of primary and secondary hypereosinophilic syndrome were excluded, treatment with solumedrol infusion and oral prednisone was started, with a rapid recover of clinical symptoms and normalization of laboratory parameters. A complete remission of the laboratory and clinical findings was achieved after 2 months and maintained over 1-year follow-up.