小儿阻塞性睡眠呼吸暂停低通气综合征的诊断及治疗

目的探讨基层医院小儿阻塞性睡眠呼吸暂停低通气综合征(OSAHS)的诊断和治疗。方法对临床疑似患儿,用多功能监测仪行夜间持续脉搏氧饱和度和呼吸监测、头颈侧位摄片、纤维鼻咽镜检查,确诊后行手术治疗。结果患儿多有睡眠粗响鼾声、扁桃体和(或)腺样体肥大,呼吸道感染、中耳炎、发育不良及中枢系统并发症的发生率较高。最低氧饱和度(85±7)%,睡眠呼吸暂停指数(apneaindex,AI)≥1者22例,睡眠呼吸暂停低通气指数(apneahypopneaindex,AHI)≥5者30例。在全麻下行扁桃体和腺样体切除术,同时行改良悬雍垂腭咽成形3例,双侧鼓膜切开引流术15例。术后症状及相关指标改善明显。结论便携式多功能监测仪可精确诊断OSAHS,扁桃体和腺样体切除是有效的治疗方法。     

Intermittent positive pressure ventilation by nasal mask: Technique and applications

Intermittent positive pressure ventilation delivered non-invasively through a well-fitting nasal mask has been used to control nocturnal hypoventilation in three patients with severe, combined cardio-respiratory and skeletal disease. The advantages of this approach to domiciliary ventilation are described and the requirements of the ventilator are defined.     

Use of volume-targeted non-invasive bilevel positive airway pressure ventilation in a patient with amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease in which most patients die of respiratory failure. Although volume-targeted non-invasive bilevel positive airway pressure (BPAP) ventilation has been studied in patients with chronic respiratory failure of various etiologies, its use in ALS has not been reported. We present the case of a 66-year-old woman with ALS and respiratory failure treated with volume-targeted BPAP ventilation for 15 weeks. Weekly data downloads showed that disease progression was associated with increased respiratory muscle weakness, decreased spontaneous breathing, and increased use of non-invasive positive pressure ventilation, whereas tidal volume and minute ventilation remained relatively constant.     

阻塞性睡眠呼吸暂停低通气综合征对冠心病患者造影剂肾病发病率的影响

目的探讨阻塞性睡眠呼吸暂停低通气综合征（OSAHS）对冠心病（CHD）患者造影剂肾病（CIN）发病率的影响。方法根据冠状动脉造影及多导睡眠监测的结果,将研究对象分为CHD无OSAHS组48例、CHD并OSAHS组62例,比较两组冠状动脉造影前后血清肌酐的变化及造影剂肾病的发病率。结果两组血清肌酐水平在冠状动脉造影前48h内差异无统计学意义（t＝－0.733,P＝0.465）,冠状动脉造影和（或）经皮冠状动脉介入术后第1天、第3天CHD并OSAHS组血清肌酐水平高于CHD无OSAHS组,差异有统计学意义（t＝－2.486,P＝0.014;t＝－2.921,P＝0.004）。在纳入的研究对象中,18例发生CIN,总体CIN发生率为16.36%,其中CHD无OSAHS组4例,CIN发生率为8.33%,CHD并OSAHS组14例,CIN发生率为22.58%,两组患者CIN发病率差异具有统计学意义（χ²＝4.013,P＝0.045）。结论阻塞性睡眠呼吸暂停低通气综合征是冠心病患者造影剂肾病发生的一个相关风险因素。     

The congenital central hypoventilation syndrome (CCHS): a late presentation

BACKROUND: The congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxia. PHOX2B has been identified as the major gene causing CCHS. It results from polyalanine repeat expansion mutations. It typically presents in the newborn period but some cases have been described in adults (late onset CCHS) reflecting the variable penetrance of PHOX2B mutations. CASE REPORT: A 48 year-old woman presented, after ovarian cyst surgery, with severe hypoventilation requiring intubation. Arterial blood gases revealed a PaO2 of 6.6kPa (50mmHg), a PaCO2 of 10kPa (80mmHg) and a pH of 7.22. The past medical history revealed nocturnal symptoms for a few years. These included apnoeas, fitful sleep and awakening with headaches. Physical examination, pulmonary function tests, lung tomography and magnetic resonance imaging of the brainstem were all normal. Polysomnography revealed numerous central and obstructive apnoeas and hypopnoeas, with severe hypoxaemia and hypercapnia. Hypoxic and hypercapnic stimulation tests showed no adaptation of the ventilatory responses. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. CONCLUSION: The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation, and physiological evaluation should be undertaken to document the abnormal ventilatory responses. The presence of a PHOX2B mutation confirms the diagnosis.     

Referral for a Bariatric Surgical Consultation: It is Time to Set a Standard of Care

Indications for bariatric surgery have been clear for some time and many would say that they are conservative. Unfortunately few eligible candidates seek or are referred for bariatric surgery, with less than 1% currently treated annually. In recent years, the evidence base supporting surgical therapy has strengthened with demonstrable improvements in both safety and efficacy. We now have evidence of remarkable improvements in health, quality of life, and increased life expectancy. There is continued frustration with the poor efficacy of non-surgical therapies and no indication that this is about to change. A caring physician should, as best care, refer the seriously ill morbidly obese patient for a surgical opinion. It is no different from their obligation to adequately manage type-2 diabetes, depression or unstable angina. Currently, even discussion of a surgical referral is optional. It is time we articulated and defined a group of patients where referral for a surgical opinion is no longer merely an option but a physician’s responsibility as best care for the patient. It is time to provide leadership towards the delivery of better care for these patients.