Search Results (721)

Obstructive sleep apnea (OSA) syndrome is a severe, debilitating, and pervasive sleep disorder. OSA mainly affects people with obesity, type 2 diabetes mellitus (T2DM), hypertension, and dyslipidemia and is strongly associated with cardiovascular complications. Based on the bidirectional relationship between T2DM and OSA, the latter represents a risk factor for the former, and, vice versa, people with T2DM have a high risk of OSA. Mechanical and hormonal factors, inflammatory mediators, and a dysregulated autonomic nervous system contribute to the mechanisms underlying the disease. Treatment of OSA is necessary even if the available remedies are not always effective. In addition to traditional treatments, including lifestyle adaptations and bariatric surgery, CPAP equipment, i.e., a breathing device ensuring continuous positive pressure to keep the airways open during sleep, represents the most common treatment tool. More recently, pharmacological research has paved the way to newer seemingly effective therapeutic strategies involving, in particular, two hypoglycemic agent classes, i.e., sodium–glucose co-transporter 2 inhibitors (SGLT2-is) and glucagon-like peptide-1 (GLP-1) receptor agonists (GLP1-ras). This narrative review provides an update on all of the above. Full article

Background and Clinical Significance: Obstructive sleep apnea (OSA) is a common comorbidity in patients with cardiac and metabolic disorders. The coexistence of central sleep apnea with Cheyne–Stokes breathing (CSA-CSB) in heart failure patients, especially those with preserved ejection fraction (HFpEF), represents a diagnostic and therapeutic challenge. Data on continuous positive airway pressure (CPAP) failure and successful adaptation to servo-ventilation (ASV) in the context of complex comorbidities remain limited. Case Presentation: We present the case of a 74-year-old male with a history of type 2 diabetes mellitus, paroxysmal atrial fibrillation, HFpEF, essential hypertension, and bladder carcinoma. He was referred for pre-operative OSA screening, reporting excessive daytime sleepiness, insomnia, and witnessed apneas. Initial respiratory polygraphy revealed severe sleep-disordered breathing with dominant CSA-CSB and moderate OSA. Laboratory investigations also revealed severe iron-deficiency anemia, which was managed with parenteral iron supplementation. The patient underwent CPAP titration, which led to modest improvement and residual high apnea–hypopnea index (AHI). After persistent symptoms and an inadequate CPAP response, an ASV device was initiated with significant clinical and respiratory improvement, demonstrating normalization of hypoxic burden and optimal adherence. Conclusions: CSA-CSB in HFpEF patients with anemia poses unique therapeutic difficulties. This case highlights the importance of individualized diagnostic and therapeutic strategies, including transitioning to ASV in CPAP-refractory cases, which can lead to improved adherence, reduced hypoxia, and better overall outcomes in high-risk patients. Full article

Telomeres are protective DNA sequences located at chromosome ends, essential to maintaining genomic stability. This narrative review examines how maternal lifestyle factors during pregnancy influence fetal telomere length (TL). Positive associations have been identified between offspring’s TL and maternal consumption of nutrients such as vitamins C and D, folate, and magnesium. Additionally, adherence to a Mediterranean diet and regular physical activity during pregnancy are correlated with increased placental TL, supporting fetal genomic integrity. Conversely, maternal dietary patterns high in carbohydrates, fats, or alcohol, as well as exposure to triclosan and sleep-disordered breathing, negatively correlate with offspring’s TL. Maternal infections may also shorten TL through heightened inflammation and oxidative stress. However, evidence regarding the impact of other lifestyle factors—including maternal stress, smoking, caffeine intake, polyunsaturated fatty acid consumption, obesity, and sleep quality—remains inconsistent. Given that shorter telomere length has been associated with cardiovascular, pulmonary, and neurodegenerative diseases, as well as certain types of cancer, these findings highlight the vital importance of maternal health during pregnancy in order to prevent potential adverse effects on the fetus. Further studies are required to elucidate the precise timing, intensity, and interplay of these influences, enabling targeted prenatal interventions to enhance offspring health outcomes. Full article

Sleep disorders and stroke are intricately linked through a complex, bidirectional relationship. Sleep disturbances such as obstructive sleep apnea (OSA), insomnia, and restless legs syndrome (RLS) not only increase the risk of stroke but also frequently emerge as consequences of cerebrovascular events. OSA, in particular, is associated with a two- to three-fold increased risk of incident stroke, primarily through mechanisms involving intermittent hypoxia, systemic inflammation, endothelial dysfunction, and autonomic dysregulation. Conversely, stroke can disrupt sleep architecture and trigger or exacerbate sleep disorders, including insomnia, hypersomnia, circadian rhythm disturbances, and breathing-related sleep disorders. These post-stroke sleep disturbances are common and significantly impair rehabilitation, cognitive recovery, and quality of life, yet they remain underdiagnosed and undertreated. Early identification and management of sleep disorders in stroke patients are essential to optimize recovery and reduce the risk of recurrence. Therapeutic strategies include lifestyle modifications, pharmacological treatments, medical devices such as continuous positive airway pressure (CPAP), and emerging alternatives for CPAP-intolerant individuals. Despite growing awareness, significant knowledge gaps persist, particularly regarding non-OSA sleep disorders and their impact on stroke outcomes. Improved diagnostic tools, broader screening protocols, and greater integration of sleep assessments into stroke care are urgently needed. This narrative review synthesizes current evidence on the interplay between sleep and stroke, emphasizing the importance of personalized, multidisciplinary approaches to diagnosis and treatment. Advancing research in this field holds promise for reducing the global burden of stroke and improving long-term outcomes through targeted sleep interventions. Full article

Obstructive sleep apnea (OSA) could increase pulmonary artery pressure. However, the clinical consequences vary, mainly depending on comorbidities. Patients with pulmonary hypertension associated with lung diseases (World Health Organization (WHO) Group 3 pulmonary hypertension) are particularly vulnerable increases in pulmonary artery pressure. Managing pulmonary hypertension in this specific patient population presents a considerable challenge. While positive airway pressure therapy for OSA has shown promise in improving pulmonary hemodynamics in patients with obesity hypoventilation syndrome and chronic obstructive pulmonary disease, evidence is lacking for similar improvements in those with other pulmonary diseases and hypoventilation disorders. Furthermore, pulmonary-artery-specific therapies may carry a risk of clinical worsening in this group. Weight management and new pharmacotherapy have together emerged as a crucial intervention, demonstrating benefits for both OSA and pulmonary hemodynamics. We reviewed key studies that provide insights into the influence of OSA on WHO Group 3 pulmonary hypertension and the clinical management of both conditions. Full article

Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article

Continuous monitoring of respiratory patterns is essential for disease diagnosis and daily health care. Contact medical devices enable reliable respiratory monitoring, but can cause discomfort and are limited in some settings. Radar offers a noncontact respiration measurement method for continuous, real-time, high-precision monitoring. However, it is difficult for a single radar to characterize the coordination of chest and abdominal movements during measured breathing. Moreover, motion interference during prolonged measurements can seriously affect accuracy. This study proposes a dual radar system with customized narrow-beam antennas and signals to measure the chest and abdomen separately, and an adaptive dynamic time warping (DTW) algorithm is used to effectively suppress motion interference. The system is capable of reconstructing respiratory waveforms of the chest and abdomen, and robustly extracting various respiratory parameters via motion interference. Experiments on 35 healthy subjects, 2 patients with chronic obstructive pulmonary disease (COPD), and 1 patient with heart failure showed a high correlation between radar and respiratory belt signals, with correlation coefficients of 0.92 for both the chest and abdomen, a root mean square error of 0.80 bpm for the respiratory rate, and a mean absolute error of 3.4° for the thoracoabdominal phase angle. This system provides a noncontact method for prolonged respiratory monitoring, measurement of chest and abdominal asynchrony and apnea detection, showing promise for applications in respiratory disorder detection and home monitoring. Full article

Introduction: Obstructive sleep apnea syndrome (OSAS) is caused by anatomical and non-anatomical factors which lead to upper airway (UA) obstruction during sleep. Intrinsic UA collapse is the most frequent determinant of OSA. In the era of personalized medicine, adopting a tailored diagnostic approach is essential to rule out secondary causes of UA collapse, particularly those stemming from extrinsic anatomical factors. Although being rarely considered in the differential diagnosis, space-occupying lesions of deep cervical spaces such as the parapharyngeal space (PPS) may be responsible for airway obstruction and lead to OSAS. Objective: This study aimed to present an atypical case of OSAS caused by extrinsic PPS compression, outlining the relevance of modern personalized medicine in the diagnostic and therapeutic protocols, and to enhance understanding through a comprehensive literature review. Methods: A 60-year-old female presented with sleep-disordered complaints and was diagnosed with severe OSAS after polysomnography. At physical examination, a swelling of the right posterior oropharyngeal mucosa was noticed. Imaging confirmed the suspicion of a PPS tumor, and transcervical resection was planned. Case presentation was adherent to the CARE checklist. A comprehensive literature review was conducted using the most reliable scientific databases. Results: Surgery was uneventful, and the patient made a full recovery. The histopathology report was consistent with the diagnosis of pleomorphic adenoma. Postoperative outcomes showed marked improvement in polysomnographic parameters and symptom burden. Conclusions: Parapharyngeal space tumors are a rare, often overlooked cause of OSA. This case highlights the role of a personalized head and neck assessment in OSA patients, particularly in identifying structural causes and offering definitive surgical management when indicated. Full article

Background: Metabolic syndrome (MetS) and obstructive sleep apnea (OSA) are prevalent and interrelated conditions in older adults, both contributing to decreased quality of life and increased health risks. Nutritional interventions, including dietary changes and probiotic supplementation, may offer effective non-pharmacological strategies to address these conditions. This study aimed to evaluate the impact of diet therapy alone and in combination with probiotics on quality of life and sleep apnea risk in older adults (>60 years) with MetS. Methods: In this controlled interventional study, 192 older adults with metabolic syndrome were assigned to one of three groups: control, diet therapy alone, or diet therapy plus probiotic supplementation. Participants were evaluated at baseline and after the intervention period using the SF-36 quality of life questionnaire and an apnea risk screening tool. Clinical and metabolic parameters, including BMI, HOMA index, and visceral fat, were also assessed. Results: Significant improvements in SF-36 scores were observed in both intervention groups compared to the control group (p < 0.05) (mean difference = −5.31, p = 0.016), with the diet + probiotics group showing the greatest enhancement. Participants who reduced their apnea risk also reported higher post-intervention SF-36 scores. The intervention led to reductions in visceral fat, inflammatory markers (CRP), and insulin resistance (HOMA index), which were correlated with improved quality of life. Conclusions: Integrated nutritional strategies, especially the combination of diet and probiotics, significantly improve quality of life and reduce apnea risk in older adults with metabolic syndrome. These findings support the use of personalized, non-pharmacological interventions targeting both metabolic health and sleep-related outcomes in geriatric populations. Full article

Obstructive sleep apnea is a highly prevalent respiratory disease linked to increased morbidity and mortality, a reduced quality of life, and increased economic costs if not treated. Oral appliances are an emerging treatment option for obstructive sleep apnea. This review concluded that many oral appliances marketed as “custom” include modifications and prefabricated items, and therefore do not meet the definition of “custom” oral appliances. This misclassification could hinder the accurate characterization, evaluation, and appropriate prescription of oral appliances. To better inform the clinical utilization of custom oral appliances and to more closely align sleep medicine with the benefits of personalized medicine, we propose that the custom oral appliance classification be further refined into semi-custom and precision-custom categories. Full article

Accurate sleep staging and sleep-disordered breathing (SDB) severity prediction are critical for the early diagnosis and management of sleep disorders. However, real-world polysomnography (PSG) data often suffer from modality heterogeneity, label scarcity, and non-independent and identically distributed (non-IID) characteristics across institutions, posing significant challenges for model generalization and clinical deployment. To address these issues, we propose a federated multi-task learning (FMTL) framework that simultaneously performs sleep staging and SDB severity classification from seven multimodal physiological signals, including EEG, ECG, respiration, etc. The proposed framework is built upon a hybrid deep neural architecture that integrates convolutional layers (CNN) for spatial representation, bidirectional GRUs for temporal modeling, and multi-head self-attention for long-range dependency learning. A shared feature extractor is combined with task-specific heads to enable joint diagnosis, while the FedAvg algorithm is employed to facilitate decentralized training across multiple institutions without sharing raw data, thereby preserving privacy and addressing non-IID challenges. We evaluate the proposed method across three public datasets (APPLES, SHHS, and HMC) treated as independent clients. For sleep staging, the model achieves accuracies of 85.3% (APPLES), 87.1% (SHHS_rest), and 79.3% (HMC), with Cohen’s Kappa scores exceeding 0.71. For SDB severity classification, it obtains macro-F1 scores of 77.6%, 76.4%, and 79.1% on APPLES, SHHS_rest, and HMC, respectively. These results demonstrate that our unified FMTL framework effectively leverages multimodal PSG signals and federated training to deliver accurate and scalable sleep disorder assessment, paving the way for the development of a privacy-preserving, generalizable, and clinically applicable digital sleep monitoring system. Full article

Opto-electronic plethysmography (OEP) is used to measure chest wall compartment volumes and their synchronisation. Breathing pattern disorder (BPD) can be distinguished using the phase angles between these chest wall compartments during exercise. However, the time taken to manually place the standard OEP model involving 89 reflective markers is high during clinical application. The purpose of this study was to investigate the use of a pre-markered T-shirt instead of markers applied directly to the skin at rest, during different exercise intensities and recovery. Thirty-nine healthy participants (24 male, 15 female) aged 18–40 years performed an incremental cycling test with the skin-mounted OEP marker set. Participants then repeated the same cycling test with a pre-markered T-shirt. Across all test conditions, the T-shirt showed a strong level of agreement (Intraclass correlation coefficient (ICC) ≥ 0.9) with the standard breath-by-breath (BbB) gas analyser. Moreover, ICC values exceeded 0.8 for compartment contributions across all test conditions, indicating excellent agreement with the skin-mounted markers. The phase angles between compartments showed the best agreement during the moderate exercise level (0.6 < ICC < 0.8). In conclusion, the pre-markered T-shirt presents a viable solution for the quick monitoring of breathing patterns, as well as an effective tool in diagnosing BPD during exercise. Full article

Background: Snoring is a common symptom within the spectrum of sleep-disordered breathing, often occurring independently or in association with obstructive sleep apnea syndrome (OSAS). Despite its prevalence, treatment strategies remain variable and lack standardization, particularly regarding surgical interventions. This review aims to evaluate and summarize the outcomes of soft palate and pharyngeal surgeries for adult snoring based on recent literature. Methods: A systematic review was conducted using the PubMed database, identifying studies published between 2014 and 2024 that involved adult patients undergoing upper airway surgery for snoring. Inclusion criteria required pre- and postoperative snoring assessment using the Visual Analog Scale (VAS). Studies were categorized by surgical technique (anterior vs. lateral/circumferential), anesthesia type, presence of tonsillectomy, BMI, OSAS severity (based on AHI), and use of Drug-Induced Sleep Endoscopy (DISE). Descriptive analysis was performed on the changes in VAS scores. Results: A total of 43 studies involving 2713 patients were included, with 18 eligible for quantitative analysis (716 patients). Across all patients, mean VAS scores improved from 7.29 to 3.50 (ΔVAS 3.79). Both anterior and lateral/circumferential techniques yielded significant symptom reduction (ΔVAS 4.12 and 3.68, respectively). General anesthesia showed slightly better outcomes than local anesthesia. Notably, tonsillectomy was associated with greater symptom improvement (ΔVAS 5.17 vs. 4.49). Patients with lower BMI and milder OSAS showed higher baseline VAS but similar improvements. Limited objective measures and heterogeneity in surgical protocols were key limitations. Conclusions: Surgical interventions for snoring provide subjective symptom relief regardless of surgical approach or OSAS severity. Tonsillectomy may enhance outcomes. Future efforts should prioritize standardized, objective outcome measures and personalized treatment planning, potentially incorporating DISE and wearable acoustic technologies. Full article

Background/Objectives: Childhood obesity represents a growing public health concern. It is closely associated with obstructive sleep apnoea (OSA), which impairs nocturnal breathing and significantly affects neurocognitive and cardiovascular health. This review aims to analyse differences in fat distribution, anthropometric parameters, and instrumental assessments of paediatric OSA compared to adult OSA to improve the diagnostic characterisation of obese children. Methods: narrative review. Results: While adenotonsillar hypertrophy (ATH) remains a primary cause of paediatric OSA, the increasing prevalence of obesity has introduced distinct pathophysiological mechanisms, including fat accumulation around the pharynx, reduced respiratory muscle tone, and systemic inflammation. Children exhibit different fat distribution patterns compared to adults, with a greater proportion of subcutaneous fat relative to visceral fat. Nevertheless, cervical and abdominal adiposity are crucial in increasing upper airway collapsibility. Recent evidence highlights the predictive value of anthropometric and body composition indicators such as neck circumference (NC), neck-to-height ratio (NHR), neck-to-waist ratio (NWR), fat-to-muscle ratio (FMR), and the neck-to-abdominal-fat percentage ratio (NAF%). In addition, ultrasound assessment of lateral pharyngeal wall (LPW) thickness and abdominal fat distribution provides clinically relevant information regarding anatomical contributions to OSA severity. Among imaging modalities, dual-energy X-ray absorptiometry (DXA), bioelectrical impedance analysis (BIA), and air displacement plethysmography (ADP) have proven valuable tools for evaluating body fat distribution. Conclusions: Despite advances in the topic, a validated predictive model that integrates these parameters is still lacking in clinical practice. Polysomnography (PSG) remains the gold standard for diagnosis; however, its limited accessibility underscores the need for complementary tools to prioritise the identification of children at high risk. A multimodal approach integrating clinical, anthropometric, and imaging data could support the early identification and personalised management of paediatric OSA in obesity. Full article

Objective: This study aims to investigate the feasibility of an online music therapy protocol for individuals previously diagnosed with COVID-19, focusing on their perceptions of their respiratory symptoms and the intervention’s impact on psychosocial measures. Methods: A within-subject experimental design was applied to examine an eight-week weekly online music therapy protocol, including singing, wind instrument playing, and music visualizations. All self-report data were collected bi-weekly throughout the 16-weeks study period, including baseline and post-tests. The measures for respiratory symptoms included the Medical Research Council’s Dyspnea Scale (MRC Dyspnea), Chronic Respiratory Questionnaire-Mastery Scores (CRQ Mastery), and Visual Analogue Scale for breathlessness. The measures for the secondary psychosocial outcomes were the Beck Depression Inventory-Short Form, the Generalized Anxiety Disorder 7-item, the Hospital Anxiety and Depression Scale, the Fatigue Severity Scale, the Epworth Sleepiness Scale, the EuroQol 5-Dimension 5-Level, and the Connor-Davidson Resilience Scale. Results: Twenty-four participants were enrolled. The participants perceived a reduction in respiratory symptoms, and shortness of breath (MRC Dyspnea). Planned comparisons showed significant decreases in MRC from baseline to post-treatment (p = 0.008). The mixed-effects model, including pre-baseline and post-treatment, was significant (p < 0.001). Significant changes in Breathing VAS were consistent with improvements in MRC Dyspnea, showing a significant baseline-to-post difference (p = 0.01). The CRQ Mastery showed significant improvements from baseline to Week 12 (p < 0.001). No significant changes were observed in other secondary measures. Conclusions: Our preliminary findings suggest that this protocol is feasible, and as a result, may help individuals previously diagnosed with COVID-19 to cope with lasting respiratory symptoms and improve their perception of shortness of breath. Live music-making, including playing accessible wind instruments and singing, may contribute to an increase sense of control over breathing. As this was a feasibility study, we conducted multiple uncorrected statistical comparisons to explore potential effects. While this approach may increase the risk of Type I error, the findings are intended to inform hypotheses for future confirmatory studies rather than to draw definitive conclusions. Full article