Role of precision medicine in obstructive sleep apnoea.
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ABSTRACT:
SUBMITTER: Liu Y
PROVIDER: S-EPMC9951383 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Publications
Role of precision medicine in obstructive sleep apnoea.
Liu Yu Y Abdul Ghafoor Ali A Hajipour Mohammadreza M Ayas Najib N
BMJ medicine 20230105 1
Obstructive sleep apnoea is a substantial clinical and public health problem because it contributes to harmful effects on quality of life, daytime symptoms, road traffic incidents, and cardiometabolic disease. Increasingly, obstructive sleep apnoea is recognised as a heterogeneous disease, and patients have varied susceptibility to long term complications and different responses to treatment. This narrative review summarises the current knowledge of precision medicine in obstructive sleep apnoea ...[more]
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Project description:BackgroundIn 2007 and 2012, the American Academy of Sleep Medicine (AASM) updated their scoring criteria for nocturnal respiratory events. We hypothesised that this could have led to changes in the apnoea-hypopnoea index (AHI) of patients with chronic obstructive pulmonary disease (COPD)/obstructive sleep apnoea (OSA) overlap syndrome.MethodsIn a retrospective study, polysomnographic (PSG) recordings of 34 patients with COPD/OSA overlap syndrome were independently analysed using the AASM criteria from 2007 (AASM2007) and 2012 (AASM2012). The primary outcome was the difference in AHI, the secondary outcomes were frequency of hypopnoeas, diagnosis of overlap syndrome and differences between the AASM 2007 recommended (AASM2007Rec) and altered (AASM2007Alt) classifications. Data are presented as mean (standard deviation) if normally distributed, and as median (interquartile range) if non-normally distributed.ResultsThe PSGs of 34 elderly [aged 67 (7.0) years] and predominantly male (m:f, 31:3) patients with COPD [FEV1%pred 48.4% (19.6%)] were analysed. The AHI using AASM2007Rec criteria was 5.9 (2.0, 15.1) events/hour vs. 20.4 (11.5, 28.0) events/hour using the 2012 criteria (P<0.001); with the AASM2007Alt criteria, the AHI was 15.0 (9.3, 26.3) events/hour (P<0.001). Using the 2012 classification, the number of scored hypopnoeas increased by +48% compared to the AASM2007Rec criteria (P<0.001), 92% of these events were associated with arousal. Although statistically non-significant, using the AASM2007Alt classification, 12% of our cohort would not have been diagnosed with COPD/OSA overlap syndrome (P=0.114), this was also the case for 47% of the cohort when the AASM2007Rec classification was used (P<0.01).ConclusionsThe use of the AASM2012 scoring rules results in a significantly higher AHI compared to the AASM2007 criteria in patients with COPD/OSA overlap syndrome, mostly due to an increased number of arousal-associated hypopnoeas. These observations are important for the definition of the COPD/OSA overlap syndrome.
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Project description:Obstructive sleep apnoea syndrome (OSAS) is a common disorder of multifactorial pathogenesis and is associated with obesity, diabetes and cardiovascular disease. Vitamin D is a fat-soluble vitamin with an important function in calcium absorption and homeostasis, which is also implicated in several nonskeletal conditions. The prevalence of vitamin D deficiency is increasing worldwide and is associated with similar metabolic disturbances to OSAS. Moreover, recent data suggest that in OSAS patients serum levels of vitamin D are lower compared with non-apnoeic subjects. However, the mechanisms linking vitamin D deficiency and OSAS are not completely understood and several hypotheses have been advanced. To date, a limited number of studies have assessed the association between lower serum concentrations of vitamin D and OSAS, and have reported inconsistent results. Similarly, contradictory results have been produced by studies which evaluated the effect of continuous positive airway pressure treatment on serum vitamin D levels. The aim of this review is to summarise current knowledge on the association between OSAS and vitamin D levels.Vitamin D insufficiency prevalence is increasing worldwide and presents with similar comorbidities and risk factors to OSAS.The nonskeletal actions of vitamin D may contribute to the development of OSAS through immune system modulation, myopathy and inflammation.Studies evaluating serum vitamin D concentrations in OSAS patients and the effect of CPAP treatment report contradictory results, often influenced by confounding factors, such as obesity.There appears to be potential for use of vitamin D supplementation in OSAS patients as a means of reducing the incidence of cardiovascular disease, a comorbidity common in both conditions.To assess the potential association between OSAS and serum levels of vitamin D.To discuss the pathogenetic mechanisms linking OSAS and vitamin D insufficiency.To illustrate the effect of CPAP treatment on vitamin D concentration in OSAS patients.
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Project description:We present the case of a middle-aged man whose obstructive sleep apnoea (OSA) was caused by a retropharyngeal lipoma, with complete resolution after transoral excision. Lipomas causing OSA are rare, and this represents the seventh reported case in the literature.
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Project description:Obstructive sleep apnoea (OSA) is a common chronic disease and is associated with high social and economic costs. OSA is heritable, and there is evidence of both direct genetic contributions to OSA susceptibility and indirect contributions via 'intermediate' phenotypes such as obesity, craniofacial structure, neurological control of upper airway muscles and of sleep and circadian rhythm. Investigation of the genetics of OSA is an important research area and may lead to improved understanding of disease aetiology, pathogenesis, adverse health consequences and new preventive strategies and treatments. Genetic studies of OSA have lagged behind other chronic diseases; however recent gene discovery efforts have been successful in finding genetic loci contributing to OSA-associated intermediate phenotypes. Nevertheless, many of the seminal questions relating to the genetic epidemiology of OSA and associated factors remain unanswered. This paper reviews the current state of knowledge of the genetics of OSA, with a focus on genomic approaches to understanding sleep apnoea.
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Project description:ObjectivesTo estimate the prevalence and characteristics of frequent nocturnal sweating in obstructive sleep apnoea (OSA) patients compared with the general population and evaluate the possible changes with positive airway pressure (PAP) treatment. Nocturnal sweating can be very bothersome to the patient and bed partner.DesignCase-control and longitudinal cohort study.SettingLandspitali-The National University Hospital, Iceland.ParticipantsThe Icelandic Sleep Apnea Cohort consisted of 822 untreated patients with OSA, referred for treatment with PAP. Of these, 700 patients were also assessed at a 2-year follow-up. The control group consisted of 703 randomly selected subjects from the general population.InterventionPAP therapy in the OSA cohort.Main outcome measuresSubjective reporting of nocturnal sweating on a frequency scale of 1-5: (1) never or very seldom, (2) less than once a week, (3) once to twice a week, (4) 3-5 times a week and (5) every night or almost every night. Full PAP treatment was defined objectively as the use for ?4 h/day and ?5 days/week.ResultsFrequent nocturnal sweating (?3× a week) was reported by 30.6% of male and 33.3% of female OSA patients compared with 9.3% of men and 12.4% of women in the general population (p<0.001). This difference remained significant after adjustment for demographic factors. Nocturnal sweating was related to younger age, cardiovascular disease, hypertension, sleepiness and insomnia symptoms. The prevalence of frequent nocturnal sweating decreased with full PAP treatment (from 33.2% to 11.5%, p<0.003 compared with the change in non-users).ConclusionsThe prevalence of frequent nocturnal sweating was threefold higher in untreated OSA patients than in the general population and decreased to general population levels with successful PAP therapy. Practitioners should consider the possibility of OSA in their patients who complain of nocturnal sweating.
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Project description:Obstructive sleep apnoea (OSA) is a chronic sleep disorder characterised by recurrent cyclical episodes of upper airway collapse causing apnoea or hypopnoea. Despite being highly prevalent in patients with cardiovascular conditions, OSA has been a neglected component in cardiovascular practice. Fortunately, in the past few decades, increasing acknowledgement of the vulnerability of cardiac patients to OSA-related stressors and its adverse cardiovascular outcomes has made it a recognised cardiovascular risk factor in practice guidelines. Consequences of OSA include oxidative stress, endothelial dysfunction, autonomic dysfunction, and increased catecholamine release. The perturbations caused by OSA not only provide a clear mechanistic link to cardiovascular disease but also to poor outcomes after coronary revascularisation. This review article focuses on the correlation of OSA to coronary revascularisation outcomes. Our team reported that OSA is present in approximately 50% of patients undergoing coronary revascularisation. Importantly, untreated OSA was found to be an independent predictor of adverse events after both percutaneous coronary intervention and coronary artery bypass grafting. Although randomised trials did not confirm the benefits of OSA treatment in improving cardiovascular outcomes, these early trials were limited by poor treatment adherence. For now, systematic screening for OSA in patients undergoing coronary revascularisation is not indicated. Yet, with the proven benefit of OSA treatment in improving blood pressure control and quality of life, screening for and treatment of OSA is still indicated if patients have reported excessive daytime sleepiness and/or suboptimally controlled hypertension.
| S-EPMC10507609 | biostudies-literature
Project description:Obstructive sleep apnoea (OSA) is a common disease which is characterised by repetitive collapse of the upper airways during sleep resulting in chronic intermittent hypoxaemia and frequent microarousals, consequently leading to sympathetic overflow, enhanced oxidative stress, systemic inflammation, and metabolic disturbances. OSA is associated with increased risk for cardiovascular morbidity and mortality, and accelerated coagulation, platelet activation, and impaired fibrinolysis serve the link between OSA and cardiovascular disease. In this article we briefly describe physiological coagulation and fibrinolysis focusing on processes which could be altered in OSA. Then, we discuss how OSA-associated disturbances, such as hypoxaemia, sympathetic system activation, and systemic inflammation, affect these processes. Finally, we critically review the literature on OSA-related changes in markers of coagulation and fibrinolysis, discuss potential reasons for discrepancies, and comment on the clinical implications and future research needs.
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Project description:BackgroundThe obstructive sleep apnoea syndrome (OSAS) results from a combination of structural and neuromotor factors; however, the relative contributions of these factors have not been studied during the important developmental phase of adolescence. We hypothesised that adenotonsillar volume (ATV), nasopharyngeal airway volume (NPAV), upper airway critical closing pressure (Pcrit) in the hypotonic and activated neuromotor states, upper airway electromyographic response to subatmospheric pressure and the ventilatory response to CO2 during sleep would be major predictors of OSAS risk.Methods42 obese adolescents with OSAS and 37 weight-matched controls underwent upper airway MRI, measurements of Pcrit, genioglossal electromyography and ventilatory response to CO2 during wakefulness and sleep.ResultsATV, NPAV, activated and hypotonic Pcrit, genioglossal electromyography and ventilatory response to CO2 during sleep were all associated with OSAS risk. Multivariate models adjusted for age, gender, body mass index and race indicated that ATV, NPAV and activated Pcrit each independently affected apnoea risk in adolescents; genioglossal electromyography was independently associated in a reduced sample. There was significant interaction between NPAV and activated Pcrit (p=0.021), with activated Pcrit more strongly associated with OSAS in adolescents with larger NPAVs and NPAV more strongly associated with OSAS in adolescents with more negative activated closing pressure.ConclusionsOSAS in adolescents is mediated by a combination of anatomic (ATV, NPAV) and neuromotor factors (activated Pcrit). This may have important implications for the management of OSAS in adolescents.
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