Search Results (87)

Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, leading to multi-system impairment. Sleep respiratory disorders (SRDs) are frequent in individuals with CF—even in those with normal or mildly impaired lung function—and may adversely affect overall health. The triple combination of elexacaftor, tezacaftor, and ivacaftor (ETI) has markedly improved clinical outcomes in CF; however, its long-term impact on SRDs remains unclear. This study aimed to assess the effects of ETI on nocturnal cardiorespiratory parameters in individuals with CF over a two-year period. Thirty-five clinically stable patients aged ≥13 years, eligible for ETI therapy, were enrolled. Nocturnal cardiorespiratory polygraphy and spirometry were performed at baseline (T0), one year (T1), and two years (T2) after ETI initiation. After one year, significant improvements were observed in mean oxygen saturation (mSpO₂), time with SpO₂ ≤ 90% (t ≤ 90%), and respiratory rate. Spirometric indices (FEV₁, FVC, FEF) also significantly increased (p < 0.05). Correlation analysis revealed positive associations between mSpO₂ and FEV₁ (ρ = 0.515, p = 0.002) and between FEV₁ and FVC (ρ = 0.894, p < 0.001), while t ≤ 90% negatively correlated with FEV₁ (ρ = −0.404, p = 0.016). No additional significant changes were found at T2. ETI therapy resulted in sustained improvements in nocturnal oxygenation and lung function, supporting the importance of nocturnal respiratory monitoring during follow-up. Full article

Background and Objectives: Obstructive Sleep Apnea–Hypopnea Syndrome (OSAHS) is associated with increased cardiovascular risk, particularly in hypertensive patients. Heart rate variability (HRV) and QTc interval are noninvasive markers of autonomic function and ventricular repolarization, respectively, but their relationship with OSAHS severity remains unclear. To investigate whether the severity of OSAHS influences standard HRV and QTc parameters in hypertensive patients with moderate or severe OSAHS. Materials and Methods: This prospective study included 110 hypertensive patients with moderate (AHI 15–29.9/h, n = 37) or severe (AHI ≥ 30/h, n = 73) OSAHS. All patients underwent full-night respiratory polygraphy and 24-h Holter ECG monitoring. HRV indices (SDNN, SDANN, SDNNi, RMSSD, SDSD) and QTc interval were analyzed. Associations with OSAHS parameters and nocturnal hypoxemia were assessed using partial correlation and multivariate models, adjusted for obesity, diabetes mellitus, metabolic syndrome, and beta-blocker use. Results: Patients with severe OSAHS had higher body weight and neck circumference, and a higher prevalence of diabetes and obesity compared to those with moderate OSAHS. HRV and QTc parameters did not differ significantly between groups. Notably, reduced SDNN was independently associated with the percentage of time spent with oxygen saturation below 90% (TST90%, p = 0.003) and mean oxygen saturation (p = 0.003), indicating autonomic imbalance. QTc prolongation (≥450 ms in men, ≥460 ms in women) was present in 9.6% of patients but was not directly related to OSAHS severity. Conclusions: Hypertensive patients with OSAHS have a high cardiovascular risk burden and frequent autonomic dysfunction. Nocturnal hypoxemia is independently associated with impaired HRV, reflecting sympathetic predominance. QTc prolongation appears to be influenced by additional comorbidities rather than OSAHS severity alone. Full article

Background/Objectives: Heart rate variability (HRV) reflects autonomic nervous system modulation and may be altered in both unexplained syncope and obstructive sleep apnea (OSA). However, the nocturnal autonomic patterns underlying these conditions and their coexistence remain poorly understood. This study aimed to characterize nocturnal autonomic modulation in patients with unexplained syncope, OSA, or both, compared with individuals without these conditions. Methods: In this multicenter, cross-sectional, comparative study, 304 adults were assigned to four groups: controls (no syncope or OSA), OSA without syncope, syncope without OSA, and syncope with OSA. Time- and frequency-domain HRV parameters were derived from overnight respiratory polygraphy and compared across groups. Results: OSA was associated with increased root mean square of successive differences (RMSSD) and reduced low-frequency (LF) power, indicating enhanced vagal activity and lower nocturnal sympathetic tone. Syncope was characterized by further reductions in sympathetic indices (LF and very low frequency, VLF) with increased RMSSD, suggesting blunted sympathetic reserve. Patients with both conditions exhibited a mixed autonomic profile—elevated overall HRV with concurrent reductions in both sympathetic and parasympathetic components—indicating more profound dysautonomia despite milder OSA severity. Conclusions: OSA and syncope show distinct nocturnal autonomic patterns, and their coexistence leads to deeper autonomic imbalance. Incorporating nocturnal HRV analysis into routine polygraphy may improve pathophysiological stratification of unexplained syncope and identify clinically significant OSA. Full article

Background: Obstructive sleep apnea (OSA) is prevalent and often underdiagnosed, linking to cardiovascular disease, type 2 diabetes mellitus (T2DM), dyslipidemia, and cognitive decline. Coexistence with T2DM worsens patient outcomes. Positive airway pressure (PAP) therapy has demonstrated benefits in improving metabolic parameters and reducing comorbidities. Methods: This study examined the association between OSA and T2DM, focusing on therapy adherence. Overall, 73 patients from the pulmonology department, with diagnosed OSA and T2DM or prediabetes (PD) were compared to 72 OSA patients without diabetes. All underwent cardio-respiratory polygraphy. Data on demographics, comorbidities, and adherence were collected to evaluate disease severity and compliance. Results: Only 24% of patients were referred from cardiology or internal medicine. The STOP-BANG questionnaire accurately identified 83.4% of cases. Of the study group, 65.75% had T2DM, 34.2% had PD, and 16.5% received new diagnoses. T2DM patients had the highest BMI (40.19 kg/m²). Smoking prevalence exceeded European averages. These patients experienced more severe OSA and multiple comorbidities. PAP adherence increased from 73% to 86% after full financial coverage. Conclusions: Polygraphy remains an effective diagnostic tool. Patients with T2DM tend to have more severe OSA and comorbidities, underscoring the importance of early screening and increased awareness to improve management and outcomes. Full article

Background: Rett syndrome (RS) is a rare neurodevelopmental disorder primarily affecting females, characterized by severe neurological impairment and complex comorbidities, including epilepsy, scoliosis, and respiratory dysfunction. Respiratory complications, such as recurrent infections and sleep-disordered breathing (SDB), are increasingly recognized as significant contributors to morbidity. This study aimed to evaluate the prevalence, severity, and management of major comorbidities—including epilepsy, scoliosis, respiratory infections, and SDB—in a pediatric cohort with genetically confirmed RS. Methods: We conducted a retrospective review of medical records from 23 female patients under 18 years of age with MECP2 mutations, referred to our tertiary care center from 2021 to 2025. Data on epilepsy, scoliosis, respiratory infections, and nutritional status were collected. The presence of SDB was assessed through overnight home polygraphy (oPG) and transcutaneous carbon dioxide monitoring in selected cases. Results: Epilepsy affected 65% of patients, all with good seizure control. Scoliosis was present in 52%, with two patients requiring spinal surgery. At least one episode of lower respiratory tract infection (LRTI) was presented in 39% of our girls. LRTIs positively correlated with the number of hospitalization and antibiotic treatment. Among patients undergoing oPG, 67% presented obstructive sleep apnea, with its severity positively correlating with the frequency of lower respiratory infections. Severe nocturnal hypercapnia was documented in three patients, leading to non-invasive or invasive ventilation. Conclusions: Our findings highlight the high prevalence of sleep-related respiratory disorders and their association with respiratory infections in children with RS. Systematic respiratory assessment, including sleep studies, and early implementation of airway clearance techniques and ventilatory support are crucial to improving clinical outcomes in this vulnerable population. Full article

The scientific study of emotion remains fraught with conceptual ambiguity, methodological limitations, and epistemological blind spots. This theoretical paper argues that existing paradigms frequently capture synthetic rather than natural emotional states—those shaped by social expectations, cognitive scripting, and performance under observation. We propose a conceptual framework that distinguishes natural emotion—spontaneous, embodied, and interoceptively grounded—from synthetic forms that are adaptive, context-driven, and often unconsciously rehearsed. These reactions often involve emotional scripts rather than genuine, spontaneous affective experiences. Drawing on insights from affective neuroscience, psychological measurement, artificial intelligence, and neurodiversity, we examine how widely used tools such as EEG, polygraphy, and self-report instruments may capture emotional conformity rather than authenticity. We further explore how affective AI systems trained on socially filtered datasets risk replicating emotional performance rather than emotional truth. By recognizing neurodivergent expression as a potential site of emotional transparency, we challenge dominant models of emotional normalcy and propose a five-step agenda for reorienting emotion research toward authenticity, ecological validity, and inclusivity. This post-synthetic framework invites a redefinition of emotion that is conceptually rigorous, methodologically nuanced, and ethically inclusive of human affective diversity. Full article

This study described and analyzed the results of cardiorespiratory polygraphic studies in infants under three months who were hospitalized and monitored due to suspected apneas. Methods: Cross-sectional study. Patients aged <3 months hospitalized from 2011 to 2023 were included. All were referred for suspected apneas, and cardiorespiratory polygraphies (PG) were conducted simultaneous to non-invasive monitoring. Demographic, PG, and diagnostic variables were recorded. PG values were obtained and compared between diagnostic groups. Association was evaluated according to diagnosis, prematurity, presence, and alteration type with Kruskal–Wallis, Wilcoxon, and Fisher tests. Association between quantitative variables was assessed with Spearman’s rho and the presence of alteration with binomial logistic regression. Analysis was performed with Jamovi v.2.3, and statistical significance was defined as p < 0.05. Results: A total of 155 studies were included. Median age was 41.0 days (IQR 22.0–59.0), median gestational age was 38 weeks (IQR 32.0–42.0), and 52.3% were premature. Diagnosis: brief resolved unexplained events (BRUE) (58.1%), apnea of prematurity (27.1%), hypotonic syndrome (7.1%), laryngomalacia (LGM) (3.9%), and craniofacial alterations (CFA) (3.9%). Altered results in 21.9% polygraphies: 44.1% with AHI ≧ 5/h and 20.6% with SpO₂ ≦ 90% in >5% of the record. CFA and LGM patients had a higher risk of an altered polygraph than those with apnea of prematurity (OR 21.3/8.5) and BRUE (OR 35.9/14.3), respectively. Conclusions: Infants under three months of age referred for apnea showed often abnormal polygraphic indices, showing significant differences between diagnostic groups. Performance of sleep studies in these groups was feasible and allowed to confirm the presence of apneas and their level of severity. Particular attention should be considered in children with CFA and LMG, since their risk is significantly higher. Age-specific apnea patterns seem to be of interest, as this may possibly lead to future consequences. 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

Background: Uvulopalatopharyngoplasty (UPPP) and expansion sphincter pharyngoplasty (ESP) are two standard surgical procedures for the treatment of snoring and obstructive sleep apnea. In a retrospective clinical trial, we compared the two surgical techniques regarding objective sleep parameters and patients’ reported outcomes. Materials and Methods: Patients treated with UPPP or ESP between January 2016 and February 2020 were included in this retrospective clinical trial. Pre- and postoperative AHI, BMI, and smoking habits were recorded. Subjective improvement was assessed by the ESS score and symptom relief reported by patients and their bed partners. Results: Between 2016 and 2020, 114 patients were included in the study, 74 patients suffered from OSA, and 30 patients had non-apnoeic snoring (AHI < 5/h). No preoperative sleeping studies were available in 10 patients (10/114; 9%). Based on the findings during drug-induced sedation endoscopy, most patients received an ESP (71/114, 62%), and 43 patients received a UPPP (43/114, 38%). Additionally, in 52/114 (46%), radio frequency ablation of the tongue base was performed if DISE revealed retrolingual collapse. ESP reduced AHI from 21.1 ± 10.8/h to 13.3 ± 12.1/h (p = 0.04), whereas UPPP caused a non-significant decrease in the AHI from 25.0 ± 13.8/h to 18.2 ± 14.6/h (p = 0.6). A minor secondary bleeding was observed in 32 patients, which was effectively treated with electrocautery or conservative therapy (32/114). This was more common in the ESP group (22/71; 31%) than in the UPPP group (10/43; 23%). Postoperative need for analgesics was higher in the ESP group than in the UPPP group. The ESS score showed no significant improvement after UPPP or ESP (p = 0.3), but subjective improvement in snoring was reported by 87/114 (76%) patients. Conclusion: AHI reduction was significantly higher in the ESP patient group than in the UPPP group. ESP patients had a slightly higher rate of minor secondary bleeding and postoperative need for analgesics than UPPP patients. Full article

Background/Objectives: Obstructive sleep apnea is a prevalent, yet often underdiagnosed, condition characterized by recurrent upper airway obstruction during sleep, leading to significant perioperative risks in surgical patients. This systematic review aims to evaluate the incidence and impact of objectively diagnosed obstructive sleep apnea on postoperative outcomes across various surgical specialties—including bariatric, orthopedic, cardiac, and otorhinolaryngologic surgeries—and to assess the effectiveness of preoperative screening and perioperative management strategies. Methods: A comprehensive literature search of PubMed was conducted for studies published between January 2013 and December 2024, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Included studies involved adult surgical patients with OSA confirmed by polysomnography or respiratory polygraphy. Studies were assessed for methodological quality using the Oxford Centre for Evidence-Based Medicine Levels of Evidence framework. Results: The findings consistently indicated that obstructive sleep apnea significantly increases the risk of postoperative complications, such as respiratory depression, atrial fibrillation, acute kidney injury, delirium, and prolonged hospital stay. Continuous positive airway pressure therapy demonstrated a protective effect in bariatric and cardiac surgeries, though its effectiveness in orthopedic and otorhinolaryngologic contexts was inconsistent, largely due to adherence variability and limited implementation. Preoperative screening tools such as the STOP-BANG questionnaire were widely used, but their utility depended on integration with confirmatory diagnostics. Conclusions: Obstructive sleep apnea represents a significant, modifiable risk factor in surgical populations. Preoperative identification and risk-adapted perioperative management, including CPAP therapy and multimodal analgesia, may substantially reduce postoperative morbidity. However, further randomized trials and cost-effectiveness studies are needed to optimize care pathways and ensure consistent implementation across surgical disciplines. Full article

Background: Myofunctional therapy has emerged as a treatment option for obstructive sleep apnea (OSA). The Iowa Oral Performance Instrument (IOPI) enables objective measurement of lingual and orofacial muscle strength, although it was originally designed for evaluating dysphagia. OSA is frequently associated with a hypotonic phenotype characterized by reduced strength in upper airway muscles, but its identification remains unclear. Objective: We evaluated the usefulness of IOPI measurements in identifying hypotonic phenotypes among patients with obstructive sleep apnea (OSA). Methods: We carried out a cross-sectional study analyzing the relationship between IOPI scores, sleep polygraphy metrics—such as the apnea–hypopnea index (AHI)—and findings from physical examination. In addition to the standard IOPI protocol, we introduced novel maneuvers aimed at providing a more comprehensive assessment of oropharyngeal muscle function. Results: Although IOPI conventional maneuvers showed no clear association with AHI or ODI, the inferior tongue maneuver showed higher awake tongue strength, with a statistically significant correlation to both AHI (r = 0.2873; p = 0.008) and ODI (r = 0.2495; p = 0.032). Performing each exercise three times yielded highly consistent results across trials (r > 0.94), but did not significantly alter the overall outcome. Interestingly, lower tongue strength values were observed in patients with a high-arched palate (p < 0.05), whereas no relevant associations were found with the presence of a restricted lingual frenulum or CPAP use. Conclusions: Incorporating specific IOPI maneuvers, especially the inferior tongue exercise, may provide additional insight into muscle function in OSA. Selective repetition is advisable for borderline values. Full article

Background: Obstructive sleep apnea (OSA) and chronic obstructive pulmonary disease (COPD) are prevalent conditions with overlapping clinical features and shared consequences on autonomic function. Heart rate variability (HRV), a non-invasive biomarker of autonomic nervous system activity, may offer diagnostic, prognostic, and therapeutic insights in this patient population. Methods: A comprehensive literature review was conducted using PubMed, Google Scholar, and MEDLINE to identify peer-reviewed English-language studies published between January 2015 and December 2024. Studies were included if they evaluated HRV parameters in individuals with OSA, COPD, or overlap syndrome, explored HRV as a marker of disease severity or progression. A total of 239 studies were identified; after screening, 41 met the inclusion criteria. Results: The analysis revealed consistent evidence linking reduced HRV with both OSA and COPD severity. HRV alterations were more pronounced in overlap syndrome, reflecting synergistic autonomic dysfunction. HRV showed potential in differentiating disease stages, predicting cardiovascular risk, and evaluating treatment efficacy, particularly for CPAP therapy in OSA. Short-term HRV was particularly sensitive to autonomic changes, while long-term recordings helped track disease progression. Emerging evidence supports the use of HRV derived from wearable technologies as a viable screening tool for health and wellness. Conclusion: HRV is a valuable, non-invasive tool for assessing autonomic dysfunction in OSA, COPD, and their overlap. It offers significant potential for early diagnosis, disease monitoring, and treatment evaluation. Integrating HRV into clinical practice, could enhance diagnostic efficiency, reduce healthcare burden, and improve outcomes in high-risk respiratory populations. Furthermore, longitudinal studies are warranted to standardise HRV thresholds and validate their use in routine screening protocols. Full article

Syncope of unclear cause (SUC) presents a significant diagnostic challenge, with a considerable proportion of patients remaining without a definitive diagnosis despite comprehensive clinical evaluation. This study aims to explore the potential of unsupervised machine learning (ML), specifically clustering algorithms, to identify clinically meaningful subgroups within a cohort of 123 patients with SUC. Patients were prospectively recruited from the cardiology, neurology, and emergency departments, and clustering was performed using the k-prototypes algorithm, which is suitable for mixed-type data. The number of clusters was determined through cost function analysis and silhouette index, and visual validation was performed using UMAP. Five distinct patient clusters were identified, each exhibiting unique profiles in terms of age, comorbidities, and symptomatology. After clustering, nocturnal cardiorespiratory polygraphy and heart rate variability (HRV) parameters were analyzed across groups to uncover potential physiological differences. The results suggest distinct autonomic and respiratory patterns in specific clusters, pointing toward possible links among sympathetic dysregulation, sleep-related disturbances, and syncope. While the sample size imposes limitations on generalizability, this pilot study demonstrates the feasibility of applying unsupervised ML to complex clinical syndromes. The integration of clinical, autonomic, and sleep-related data may provide a foundation for future, larger-scale studies aiming to improve diagnostic precision and guide personalized management strategies in patients with SUC. Full article

Background/Objectives: The vestibulo-respiratory reflex regulates the tension of the respiratory muscles, which prevents apneas and awakenings during sleep. This study aimed to determine whether functional deficits in the inner ear disturb sleep quality. Methods: We compared sleep parameters in patients with their first episode of acute inner ear deficit (Group A: sudden idiopathic vertigo attack, sudden sensorineural hearing loss), chronic functional inner ear impairment (Group B: chronic peripheral vertigo, permanent hearing loss), and in healthy individuals (Group C). Polygraphy recordings were performed twice, in Group A at the onset of acute otoneurological symptoms and the second time after their withdrawal with an interval of 1 to 13 days, in Group B after 1 to 6 days, and in Group C after 1 to 8 days. Results: In Group A during the symptomatic night, overall and central apnea-hypopnea indices were significantly higher and snoring time was longer. Group A also had higher central apnea-hypopnea index on the first night compared to healthy individuals. In chronic disorders, sleep recordings showed lower autonomic arousal index than in controls or symptomatic nights in Group A. Conclusions: These findings highlight the severity of sleep apnea indicators in Group A. Our results suggest that acute dysfunction of the inner ear substantially impacts central neuronal signaling responsible for regulating normal sleep-related breathing and leads to a deterioration in sleep quality in contrast to individuals with chronic inner ear impairments. It can also be assumed that people with chronic vertigo or hearing loss experience less interrupted sleep than healthy individuals. Full article

In practice, many patients receive APAP treatment for the simple reason that it provides increased comfort and is easier for patients to accept and tolerate. Reality has proven that we have very many patients diagnosed with OSAS on APAP treatment, under which AHI has normalized, but patients continue to have remaining symptoms. Thus the question was born: is the persistence of remnant symptomatology under APAP related to the mode of ventilation in patients with normalized AHI? The target group was young obese men presenting to the urology service for nocturnal pollakiuria without urologic cause. After performing nocturnal ventilatory polygraphy, the patients were recommended APAP treatment for three months, subsequently, the patients were switched to CPAP treatment for another three months, thus comparing the results obtained. After 6 months of treatment, 71.4% of the subjects would opt to continue CPAP treatment. While a clear option for APAP treatment was expressed by 10.2%. Our research, suggests that we should not be misled by the normalization of AHI under APAP therapy, but to evaluate the patients also with the help of available and standardized questionnaires. Full article