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Biomolecules May 2023Obstructive sleep apnea (OSA) is a prevalent disease associated with increased risk for cardiovascular and metabolic diseases and shortened lifespan. The aim of this...
Obstructive sleep apnea (OSA) is a prevalent disease associated with increased risk for cardiovascular and metabolic diseases and shortened lifespan. The aim of this study was to explore the possibility of using N-glycome as a biomarker for the severe form of OSA. Seventy subjects who underwent a whole-night polysomnography/polygraphy and had apnea-hypopnea index (AHI) over 30 were compared to 23 controls (AHI under 5). Plasma samples were used to extract 39 glycan peaks using ultra-high-performance liquid chromatography (UPLC) and 27 IgG peaks using capillary gel electrophoresis (CGE). We also measured glycan age, a molecular proxy for biological aging. Three plasma and one IgG peaks were significant in a multivariate model controlling for the effects of age, sex, and body mass index. These included decreased GP24 (disialylated triantennary glycans as major structure) and GP28 (trigalactosylated, triantennary, disialylated, and trisialylated glycans), and increased GP32 (trisialylated triantennary glycan). Only one IgG glycan peak was significantly increased (P26), which contains biantennary digalactosylated glycans with core fucose. Patients with severe OSA exhibited accelerated biological aging, with a median of 6.9 years more than their chronological age ( < 0.001). Plasma N-glycome can be used as a biomarker for severe OSA.
Topics: Humans; Sleep Apnea, Obstructive; Polysomnography; Aging; Biomarkers; Immunoglobulin G
PubMed: 37371460
DOI: 10.3390/biom13060880 -
Clinical and Applied... 2023Obstructive sleep apnea (OSA) has been associated with the initiation and progression of cardiovascular disease. This study aimed to explore the relationship between the...
Obstructive sleep apnea (OSA) has been associated with the initiation and progression of cardiovascular disease. This study aimed to explore the relationship between the severity of OSA and the risk stratification of acute pulmonary embolism (PE). In this single-center cohort study, patients diagnosed with PE were evaluated for OSA via polygraphy monitoring. The simplified PE severity index (sPESI) and the number of patients requiring systemic thrombolysis were used to determine the severity of the disease. Echocardiography was performed on all participants. All patients were divided into 2 groups (OSA group and non-OSA group), and the patients in OSA group were then divided into 3 groups based on the severity of OSA. Patients with severe OSA had a significantly higher number of patients with sPESI ≥ 1 ( = .005). A higher proportion of patients with severe OSA require systemic thrombolysis ( = .010). Patients with apnea-hypopnea index (AHI) > 30/h had a much higher fibrinogen ( = .004) and D-dimer ( = .040) level than those in the non-OSA group. The levels of creatinine were significantly higher in patients with OSA ( = .040). Echocardiography showed a significant difference in left ventricular ejection fraction (LVEF) between patients in non-OSA and severe OSA groups ( = .035). And brain natriuretic peptide (BNP) also exhibited a progressive worsening related to the deepest desaturation and oxygen desaturation index. OSA, especially with AHI > 30/h, is correlated with the severity and prognosis of acute PE. This might be attributed to the prothrombotic effect, renal impairment, and cardiac dysfunction in patients with severe OSA.
Topics: Humans; Cohort Studies; Stroke Volume; Ventricular Function, Left; Polysomnography; Pulmonary Embolism; Sleep Apnea, Obstructive; Risk Assessment
PubMed: 37365833
DOI: 10.1177/10760296231175654 -
Ear, Nose, & Throat Journal Jun 2023To evaluate the possible risk factors of obstructive sleep apnea (OSA) and its impact on the health-related quality of life (HRQoL) in patients with partial...
To evaluate the possible risk factors of obstructive sleep apnea (OSA) and its impact on the health-related quality of life (HRQoL) in patients with partial laryngectomy for laryngeal cancer. A cross-sectional method was used to carry out this study. Patients who underwent partial laryngectomy for laryngeal cancer completed overnight polygraphy (PG) home sleep tests and quality of life questionnaires. The Medical Outcome Study 36-item Short-Form Health Survey (SF-36) questionnaire was used to investigate the factors influencing HRQoL. A total of 59 patients completed the PG tests and quality of life questionnaires, with 74.6% demonstrating evidence of OSA. There were significant differences in tumor area and neck dissection between OSA group and non-OSA groups. Based on sleep-related parameters, patients were divided into cluster 1 (n = 14) and cluster 2 (n = 45) using principal component analysis combined with K-means clustering. Two clusters had significantly different scores of body pain, general health, and health transition in SF-36 domains. Independent factors associated with general health were identified as tobacco use (OR = 4.716), alcohol use (OR = 3.193), and OSA-related condition (OR = 11.336). Larger tumor area and neck dissection might be associated with an increased risk for developing OSA in patients with partial laryngectomy for laryngeal cancer. OSA partially mediated the effect on physical health, including body pain, general health, and health transition. It is important to be aware of the potential impact of OSA on diminished HRQoL of these patients.
PubMed: 37291880
DOI: 10.1177/01455613231178955 -
Respiratory Physiology & Neurobiology Aug 2023Obstructive sleep apnea (OSA) is a risk factor for cardiovascular disease, inflammation, and oxidative stress. This study compared serum levels of different factors in...
Obstructive sleep apnea (OSA) is a risk factor for cardiovascular disease, inflammation, and oxidative stress. This study compared serum levels of different factors in patients with carotid artery stenosis and with or without coexisting OSA. It also aimed to identify a molecule that may be crucial for the inflammatory process correlated with intermittent hypoxia. Sixty-eight subjects scheduled for surgical treatment of carotid artery stenosis were enrolled. Polygraphy was performed the night before the surgery. Morning levels of proinflammatory cytokines and chemotactic and angiogenic factors were measured. The most profound differences between the groups were found for ENA-78 serum concentration. However, as many factors could affect the results, further studies are needed to investigate the role of ENA-78 in atherosclerosis in patients suffering from OSA.
Topics: Humans; Carotid Stenosis; Sleep Apnea, Obstructive; Atherosclerosis; Risk Factors; Hypoxia
PubMed: 37263532
DOI: 10.1016/j.resp.2023.104088 -
Journal of Clinical Medicine May 2023Restrictive lung disease (predominantly in patients with neuromuscular disease (NMD) and ribcage deformity) may induce chronic hypercapnic respiratory failure, which... (Review)
Review
Restrictive lung disease (predominantly in patients with neuromuscular disease (NMD) and ribcage deformity) may induce chronic hypercapnic respiratory failure, which represents an absolute indication to start home NIV (HNIV). However, in the early phases of NMD, patients may present only diurnal symptoms or orthopnoea and sleep disturbances with normal diurnal gas exchange. The evaluation of respiratory function decline may predict the presence of sleep disturbances (SD) and nocturnal hypoventilation that can be respectively diagnosed with polygraphy and PCO transcutaneous monitoring. If nocturnal hypoventilation and/or apnoea/hypopnea syndrome are detected, HNIV should be introduced. Once HNIV has been started, adequate follow-up is mandatory. The ventilator's built-in software provides important information about patient adherence and eventual leaks to correct. Detailed data about pressure and flow curves may suggest the presence of upper airway obstruction (UAO) during NIV that may occur with or without decrease in respiratory drive. Etiology and treatment of these two different forms of UAO are different. For this reason, in some circumstances, it might be useful to perform a polygraph. PtCO monitoring, together with pulse-oximetry, seem to be very important tools to optimize HNIV. The role of HNIV in neuromuscular disease is to correct diurnal and nocturnal hypoventilation with the consequence of improving quality of life, symptoms, and survival.
PubMed: 37240459
DOI: 10.3390/jcm12103353 -
Seizure Jul 2023Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi...
PURPOSE
Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi (PWS)-like features. Drug-resistant epilepsy, a relatively rare finding in this condition, is often a challenge in terms of therapeutic approach. Our aim is to present a new case of interstitial 6q deletion and to conduct a systematic review of the literature with an emphasis on the neurophysiological and clinical traits of afflicted individuals.
METHODS
We report a patient with an interstitial 6q deletion. Standard electroencephalograms (EEG), video-EEG with polygraphy and MRI features are discussed. We also conducted a literature review of previously described cases.
RESULTS
We describe a relatively small interstitial 6q deletion (2 Mb circa), detected by CGH-Array, not encompassing the previously described 6q22 critical region for epilepsy occurrence. The patient, a 12-year-old girl, presented with multiple absence-like episodes and startle-induced epileptic spasms since the age of 11, with partial polytherapy control. Treatment with lamotrigine induced the resolution of startle-induced phenomena. From the literature review, we identified 28 patients with overlapping deletions, often larger than our patient's mutation. Seventeen patients presented with PWS-like features. Epilepsy was reported in 4 patients, and 8 patients presented abnormal EEG findings. In our patient, the deletion included genes MCHR2, SIM1, ASCC3, and GRIK2, but, interestingly, it did not encompass the 6q22 critical region for epilepsy occurrence. The involvement of GRIK2 in the deletion may play a role.
CONCLUSION
Literature data are limited, and specific EEG or epileptological phenotypes cannot yet be identified. Epilepsy, although uncommon in the syndrome, deserves a specific diagnostic workup. We speculate on the existence of an additional locus in the 6q16.1-q21 region, different from the already hypothesized q22, promoting the development of epilepsy in affected patients.
Topics: Humans; Prader-Willi Syndrome; Chromosome Deletion; Phenotype; Mutation; Drug Resistant Epilepsy; Epilepsy; DNA Helicases
PubMed: 37210930
DOI: 10.1016/j.seizure.2023.05.011 -
Journal of Sleep Research Apr 2024There is strong evidence for clinically relevant night-to-night variability of respiratory events in patients with suspected obstructive sleep apnea. Sleep experts...
There is strong evidence for clinically relevant night-to-night variability of respiratory events in patients with suspected obstructive sleep apnea. Sleep experts retrospectively evaluated diagnostic data in 56 patients with suspected obstructive sleep apnea. Experts were blinded to the fact that they were diagnosing the same case twice, once based on a short report of a single in-laboratory respiratory polygraphy and once with the additional information of 14 nights of pulse oximetry at home. All experts (n = 22) were highly qualified, 13 experts (59.1%) treated > 100 patients with suspected obstructive sleep apnea per year. In 12 patients, the apnea-hypopnea index in the respiratory polygraphy was < 5 per hr, but the mean oxygen desaturation index of 14 nights of pulse oximetry was ≥ 5 per hr. The additional information of 14 nights of pulse oximetry helped to diagnose obstructive sleep apnea with a 70% consensus in two of those patients (16.7% [95% confidence interval: 4.7/44.8]). In eight patients, experts could not agree to a 70% consensus regarding continuous positive airway pressure therapy recommendation after respiratory polygraphy. The additional information of multiple-night testing led to a consensus in three of those cases (37.5% [95% confidence interval: 14/69]). Change of obstructive sleep apnea diagnosis and continuous positive airway pressure recommendation was significantly negatively associated with the number of treated obstructive sleep apnea patients > 100 per year compared with 0-29 patients per year (Coef. [95% confidence interval] -0.63 [-1.22/-0.04] and -0.61 [-1.07/-0.15], respectively). Experts found already a high level of consensus regarding obstructive sleep apnea diagnosis, severity and continuous positive airway pressure recommendation after a single respiratory polygraphy. However, longitudinal sleep monitoring could help increase consensus in selected patients with diagnostic uncertainty.
Topics: Humans; Polysomnography; Retrospective Studies; Sleep Apnea, Obstructive; Sleep; Oximetry
PubMed: 37197997
DOI: 10.1111/jsr.13943 -
Sleep Advances : a Journal of the Sleep... 2022To describe early diagnostic clues in Cyclin-Dependent Kinase-Like 5 (CDKL5) refractory encephalopathy, to improve treatment strategies.
STUDY OBJECTIVES
To describe early diagnostic clues in Cyclin-Dependent Kinase-Like 5 (CDKL5) refractory encephalopathy, to improve treatment strategies.
METHODS
We retrospectively studied 35 patients (25 females, 10 males) with gene mutations or deletion, focusing on their early seizure semiology, the electroencephalogram (EEG) pattern, the effect of treatment, and developmental outcome.
RESULTS
The first seizures were recognizable and consisted of tonic, then clonic, and spasms phases, occurring in sleep at a median age of 6 weeks. Clusters of spasms were observed in quiet sleep or slow-wave sleep (SWS), with screaming, staring, and arms' extension that mimicked sleep terror in 28 of 35 patients (80%). Programmed awakening prevented these spasms in 9 of 16 patients and small doses of clonazepam given at night improved epilepsy in 14 of 23 patients.
CONCLUSIONS
Peculiar seizures with spasms starting in SWS are an early diagnostic clue in infants with CDKL5 encephalopathy. Sleep video-EEG polygraphy is an easy tool to disclose these early seizures and epileptic spasms in infants during the first months of life while polysomnography is unlikely to give a contribution at that early age. While conventional antiepileptic treatment and corticosteroids are poorly, transiently, or not efficient, therapeutic strategy used for sleep terror could help, although the mechanism of spasms generation in SWS needs to be elucidated.
PubMed: 37193389
DOI: 10.1093/sleepadvances/zpac010 -
Journal of Clinical Medicine Apr 2023Pediatric obstructive sleep apnea can negatively affect children's neurocognitive function and development, hindering academic and adaptive goals. Questionnaires are...
Predictive Power of Oxygen Desaturation Index (ODI) and Apnea-Hypopnea Index (AHI) in Detecting Long-Term Neurocognitive and Psychosocial Outcomes of Sleep-Disordered Breathing in Children: A Questionnaire-Based Study.
Pediatric obstructive sleep apnea can negatively affect children's neurocognitive function and development, hindering academic and adaptive goals. Questionnaires are suitable for assessing neuropsychological symptoms in children with sleep-disordered breathing. The study aimed to evaluate the effectiveness of using the Oxygen Desaturation Index compared to the Obstructive Apnea-Hypopnea Index in predicting long-term consequences of sleep-disordered breathing in children. We conducted a retrospective analysis of respiratory polysomnography recordings from preschool and school-age children (mean age: 5.8 ± 2.8 years) and followed them up after an average of 3.1 ± 0.8 years from the home-based polysomnography. We administered three validated questionnaires to the parents/caregivers of the children by phone. Our results showed that children with an Oxygen Desaturation Index (ODI) greater than one event per hour exhibited symptoms in four domains (physical, school-related, Quality of Life [QoL], and attention deficit hyperactivity disorder [ADHD]) at follow-up, compared to only two symptoms (physical and school-related) found in children with an Obstructive Apnea-Hypopnea Index greater than one event per hour at the time of diagnosis. Our study also found a significant correlation between the minimum SpO (%) recorded at diagnosis and several outcomes, including Pediatric Sleep Questionnaire (PSQ) scores, physical, social, and school-related outcomes, and ADHD index at follow-up. These results suggest that the Oxygen Desaturation Index could serve as a valuable predictor of long-term symptoms in children with sleep-disordered breathing, which could inform treatment decisions. Additionally, measuring minimum SpO levels may help assess the risk of developing long-term symptoms and monitor treatment outcomes.
PubMed: 37176501
DOI: 10.3390/jcm12093060 -
Trials May 2023Heart failure with reduced ejection fraction (HFrEF) is associated with sleep dyspnea (SDB), which plays an adverse role in the pathophysiology of the condition. SDB...
Efficacy of dapagliflozin in the treatment of HFrEF with obstructive sleep apnea syndrome (DAHOS study): study protocol for a multicentric, prospective, randomized controlled clinical trial.
BACKGROUND
Heart failure with reduced ejection fraction (HFrEF) is associated with sleep dyspnea (SDB), which plays an adverse role in the pathophysiology of the condition. SDB management in HFrEF, however, remains controversial. HFrEF's medical management has recently made significant progress with the discovery of new therapeutic avenues, namely sodia-glucose cotransporter-2 (SGLT-2) inhibitors, and better treatment of co-morbidities. Dapagliflozin, one of the SGLT-2 inhibitors, is a good candidate for correcting SDB of HFrEF patients because their known mechanisms of action are likely to counteract the pathophysiology of SDB in HFrEF.
METHODS/DESIGN
The trial is a 3-month, multicentric, prospective, randomized controlled clinical study. Patients (i.e., adults with left ventricular ejection fraction ≤ 40%, Apnoea-Hypopnoea Index ≥ 15) will be randomized to receive optimized heart failure therapy plus a standard dose of dapagliflozin, while the control group will receive only optimized heart failure therapy. Patients will be evaluated before and after 3 months (nocturnal ventilatory polygraphy, echocardiography, laboratory testing, and quality-of-life and SDB questionnaires). The primary outcome is the change in the Apnoea-Hypopnoea Index, before and after 3 months of treatment.
TRIAL REGISTRATION
www.chictr.org.cn , ChiCTR2100049834. Registered 10 August 2021.
Topics: Adult; Humans; Stroke Volume; Heart Failure; Prospective Studies; Ventricular Function, Left; Sleep Apnea, Obstructive; Anti-Arrhythmia Agents; Cardiotonic Agents; Diuretics; Randomized Controlled Trials as Topic
PubMed: 37158922
DOI: 10.1186/s13063-023-07332-x