No abstract

Lymphangioleiomyomatosis (LAM) is a diffuse cystic lung disease. There are two main types of LAM: sporadic, and LAM associated with the tuberous sclerosis complex (TSC), which is caused by mutations in the TSC1 and TSC2 genes. LAM is characterised by cystic lung disease resulting in progressive dyspnoea, renal angiomyolipomas and lymphatic complications. Pneumothorax occurs frequently (70%) and definitive management with pleurodesis is recommended as the risk of recurrence is high. Characteristic thin-walled cysts are seen on computed tomography and the presence of elevated serum levels of a vascular endothelial growth factor-D has good diagnostic specificity. Currently, no single clinical or serological factor has been shown to predict prognosis. However, over the past decade, significant advances in our understanding of the pathophysiology of LAM has led to improved recognition of this rare disease and identification of treatment options. Mechanistic target of rapamycin inhibitors slow the rate of lung function decline and can resolve chylous effusion and regress angiomyolipomas. Life expectancy in patients with LAM is favourable, with a mean transplant-free survival >20 years from the time of diagnosis. Continued advances in understanding the molecular basis of LAM will lead to improved therapeutic targets and the development of more robust prognostic indicators.Educational aimsTo illustrate the clinical features, common presentations and radiological features of LAMTo outline the diagnostic approach to LAM, including the role of VEGF-DTo review the current prognostic indicators in LAM, and outline the impact of lung function, hormonal status, VEGF-D and clinical presentation on outcomeTo inform clinicians on the management options for LAM both pharmacological and nonpharmacological

Obstructive sleep apnoea (OSA) is a growing and serious worldwide health problem with significant health and socioeconomic consequences. Current diagnostic testing strategies are limited by cost, access to resources and over reliance on one measure, namely the apnoea-hypopnoea frequency per hour (AHI). Recent evidence supports moving away from the AHI as the principle measure of OSA severity towards a more personalised approach to OSA diagnosis and treatment that includes phenotypic and biological traits. Novel advances in technology include the use of signals such as heart rate variability (HRV), oximetry and peripheral arterial tonometry (PAT) as alternative or additional measures. Ubiquitous use of smartphones and developments in wearable technology have also led to increased availability of applications and devices to facilitate home screening of at-risk populations, although current evidence indicates relatively poor accuracy in comparison with the traditional gold standard polysomnography (PSG). In this review, we evaluate the current strategies for diagnosing OSA in the context of their limitations, potential physiological targets as alternatives to AHI and the role of novel technology in OSA. We also evaluate the current evidence for using newer technologies in OSA diagnosis, the physiological targets such as smartphone applications and wearable technology. Future developments in OSA diagnosis and assessment will likely focus increasingly on systemic effects of sleep disordered breathing (SDB) such as changes in nocturnal oxygen and blood pressure (BP); and may also include other factors such as circulating biomarkers. These developments will likely require a re-evaluation of the diagnostic and grading criteria for clinically significant OSA.

as nonrestorative sleep and excessive daytime sleepiness (EDS). 7,8In addition to EDS, OSA is associated with reduced quality of life, poor cognitive function, and road traffic accidents, independent of age or sex. 9 -11 The principal morbidity and mortality of the condition, however, are due to the increased risk of the development and progression of numerous CVDs. 4 A large body of evidence has accumulated to date strengthening the association between OSA and CVD, with increased risk persisting after correction for common cardiovascular risk factors. 12 Obstructive sleep apnea is associated with increased incidence of systemic arterial hypertension, coronary artery disease, congestive cardiac failure, and stroke, 4,13,14 and although Introduction Obstructive sleep apnea (OSA) is a growing public health problem. 1 The prevalence of the disorder has been increasing rapidly over the last 2 decades in line with the obesity epidemic in the developed world. 2-4 It is estimated that OSA affects nearly 1 billion people worldwide. However, a significant proportion of patients remain undiagnosed, 5 with one estimate suggesting that more than 30 million people are undiagnosed in Europe alone. 1 There is a male to female predominance of 2 to 1, and OSA is more common in the middle -aged and elderly population. 6 Obstructive sleep apnea is characterized by recurrent partial or complete upper airway collapse during sleep leading to intermittent hypoxia (IH) and recurrent arousals culminating in disrupted sleep quality that typically manifests

No abstract