Search Results (586)

Background and Objectives: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial lung disease characterized by alveolar-capillary membrane remodeling and impaired gas diffusion. The diffusing capacity of the lung for nitric oxide (DLNO) has been proposed as a physiological parameter reflecting membrane diffusing capacity and pulmonary vascular involvement, potentially providing complementary information to diffusing capacity of the lung for carbon monoxide (DLCO). This study aimed to evaluate the role of DLNO in the functional assessment of patients with IPF and its correlation with clinical and echocardiographic outcomes. Materials and Methods: This observational, retrospective study included 35 consecutive IPF patients receiving antifibrotic therapy between February and December 2023. All participants underwent plethysmography, combined single-breath DLNO and DLCO testing, six-minute walk test (6MWT), mMRC dyspnea scale assessment, and echocardiography for the estimation of a higher probability of pulmonary hypertension (PH). Results: DLNO was significantly lower in males compared to females (49.3 ± 16.7% vs. 74.6 ± 16.1%, p < 0.001), with a reduced DLNO/DLCO ratio in men. DLNO correlated with oxygen therapy requirement (p = 0.010) and lower oxygen saturation during the 6MWT (p = 0.021). Patients with higher echocardiographic probability of PH showed markedly reduced DLNO values (17.6 ± 7.6%, p = 0.016) and higher FVC/DLNO ratios (2.31 ± 0.85 vs. 1.65 ± 0.64, p = 0.023), together with lower DLCO levels (p = 0.037). Conclusions: DLNO may complement DLCO in the evaluation of gas exchange and alveolar-capillary dysfunction in IPF. Although preliminary, these findings support the potential clinical utility of DLNO as an adjunct parameter in the functional characterization of IPF. Further multicenter studies are warranted to confirm these results. Full article

This paper proposes a low-cost measurement system that can be used to perform simultaneous blood pressure (BP) and breathing (BR) measurements. Regarding BP measurements, the main parameters that are accessed include systolic blood pressure (SBP), diastolic blood pressure (DBP), mean arterial pressure blood pressure (MAP), and heartbeat rate (HR). Concerning BR measurements, the main parameters that are accessed include the inspiration period and amplitude (IPA), the expiration period and amplitude (EPA), and the breathing rate (BR), as well as the statistical and standard deviation of all these parameters. The dual measurement capability of the proposed measurement system is very important since blood pressure and breathing parameters are not statistically independent and it is possible to obtain additional and valuable clinical information from the information provided by both biomedical variables when measured simultaneously. The analysis of the correlation between these variables is particularly important after performing intensive physical exercises, since it enables cardiac rehabilitation assessment, pre-surgical risk evaluation, detection of silent ischemia, and monitoring of chronic diseases recovery, among others. Regarding the performance evaluation of the proposed biomedical device, a prototype of the measurement system was developed, tested, and calibrated. Several experimental tests were carried out to evaluate the performance of the proposed measurement system and to obtain the correlation coefficients between different blood pressure and breathing parameters. The tests were based on a statistically significant number of measurements that were performed with a population that integrated twenty students in two groups with different habits of physical exercise practice but subjected to a set of common physical exercises, with graduated intensity levels. Full article

Background: A patient’s lung condition can be estimated using mechanical ventilation waveform data. These procedures are often labour-intensive and error-prone, especially during large-scale health crises, leading to infrequent executions. Automated diagnostic techniques in healthcare are currently limited by the lack of large, labelled datasets required for effective machine learning applications. Analytical modelling of the mechanical ventilator-patient (MV-P) system is complex, and existing models fail to fully integrate adjustable parameters for patient, ventilation, and disease conditions. Methods: This article presents an expanded system model developed in MATLAB^® Simulink^®. The model accommodates adjustments to anthropometric parameters, ventilator settings for the three most common modes in ICU sedation, and disease progression simulations. Other uniquely combined aspects include the ability to perform an end-inspiratory hold manoeuvre and per-breath optimisation of PI control parameters. Results: The system has been validated against clinical techniques, compared to real-world data, and verified with accuracy within 3% and average normalised standard deviation of 3.4% for all adjustable parameters. Conclusions: Based on this model, which introduces high-fidelity disease progression modelling, a fully labelled synthetic dataset of nearly 2M breaths over a range of health conditions was generated. This addresses the critical shortage of labelled data needed for developing early proof-of-concept, resource-efficient diagnostic tools for automatically estimating lung conditions. Full article

Obstructive sleep apnea (OSA) in children is a common disorder with significant effects on behavior, cognition, and quality of life. Its diagnosis is primarily based on clinical history and examination, supported by standardized questionnaires such as the Sleep-Related Breathing Disorder subscale of the Pediatric Sleep Questionnaire (SRDB-PSQ), which provides high diagnostic accuracy. Although polysomnography remains the gold standard, its use should be limited to high-risk patients or unclear cases due to availability and cost constraints. Adenotonsillar hypertrophy represents the main cause of pediatric OSA and is often self-limiting. For children with mild symptoms, a watchful waiting approach may be appropriate. Randomized controlled trials (e.g., CHAT, POSTA) demonstrate that spontaneous improvement in polysomnographic parameters occurs in some children, though clinical symptoms often persist. Patients with low apnea-hypopnea-index (AHI), mild obesity, and mild symptoms appear suitable for observation but require a close follow-up. Adenotonsillectomy remains the most effective treatment for clinically significant OSA, leading to marked improvements in sleep quality, daytime symptoms, and quality of life, largely independent of polysomnographic findings. Partial tonsillectomy offers similar efficacy with reduced postoperative morbidity. Management should be individualized and focus on clinical presentation more than on sleep recordings. Future research should focus on identifying which children benefit most from conservative or surgical strategies. Full article

Background/Objectives: Obstructive sleep apnea (OSA) is a prevalent sleep-related breathing disorder characterized by repeated episodes of upper airway obstruction during sleep, leading to intermittent hypoxia and fragmented sleep architecture. Orofacial myofunctional therapy (OMT) has emerged as a promising non-invasive approach to improving airway patency in individuals with mild-to-moderate OSA. However, the role of sleep ergonomics—including sleep posture and pillow support—in enhancing OMT outcomes remains underexplored. This study aimed to evaluate whether ergonomic interventions could augment the therapeutic effects of OMT in adult patients with mild-to-moderate OSA. Methods: A 12-week prospective cohort study was conducted involving 60 adult participants diagnosed with mild-to-moderate OSA. All participants underwent a structured orofacial myofunctional therapy (OMT) program comprising exercises for tongue elevation, lip seal enhancement, and soft palate strengthening. In addition, ergonomic instructions were provided regarding optimal sleeping posture and pillow adjustment. Compliance with ergonomic practices was monitored weekly using infrared night-vision cameras and reviewed by a blinded sleep technician. Pre- and post-intervention assessments included apnea–hypopnea index (AHI), Pittsburgh Sleep Quality Index (PSQI), and Ep-worth Sleepiness Scale (ESS). Results: Statistically significant improvements were observed in all measured parameters following the intervention. AHI scores reduced from 18.2 ± 4.5 to 10.6 ± 3.9 events/hour (p < 0.001), PSQI scores improved from 11.3 ± 2.1 to 6.5 ± 1.8 (p < 0.001), and ESS scores declined from 13.7 ± 2.6 to 7.4 ± 2.0 (p < 0.001). Participants with high adherence to ergonomic recommendations demonstrated significantly greater clinical improvements compared to less adherent individuals. Conclusions: The combination of ergonomic sleep posture interventions with OMT was associated with positive improvements in sleep-related outcomes, comparable to or in some cases better than those reported in previous studies evaluating these interventions independently. As an observational cohort without a control arm, this study cannot establish causality but provides preliminary evidence to guide the design of future randomized clinical trials. Full article

Background: Orofacial myofunctional therapy (OMT) is an emerging adjunctive treatment for obstructive sleep apnea (OSA), but its effects on upper airway structural support, particularly the hyoid complex, are not well defined. This study assessed the short-term effects of OMT on hyoid bone position and sleep-related indices in adults with mild to moderate OSA. Methods: In this assessor-blinded randomized controlled trial (ClinicalTrials.gov Identifier: NCT06079073), 13 adults with mild to moderate OSA were randomized to a 12-week web-based OMT program (n = 9) or a waitlist control group (n = 4). Cone-beam computed tomography (CBCT) and three-night home sleep testing were performed at baseline and follow-up. The primary outcome was change in axis-based cephalometric hyoid position measures; secondary outcomes included sleep parameters such as the apnea–hypopnea index (AHI). Results: No significant within- or between-group differences were observed in AHI, oxygen desaturation index, or mean nocturnal SpO₂ after 12 weeks (all p > 0.05). However, several cephalometric variables showed significant between-group differences. The waitlist group exhibited greater posterior–inferior hyoid displacement than the OMT group, with large effect sizes across multiple vector measures (all p ≤ 0.045; r = 0.56–0.66). Posterior and inferior hyoid displacement was associated with higher AHI and lower SpO₂, whereas increased lower pharyngeal airway width was associated with lower AHI. Conclusions: Short-term OMT did not improve sleep-disordered breathing indices but was associated with stabilization of hyoid bone position. These findings suggest that structural stabilization may precede functional improvement and highlight the clinical relevance of vector-based hyoid analysis. Full article

Background and Objective: Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by multiple seizure types, distinctive electroencephalography (EEG) abnormalities, and cognitive impairment. Sleep disturbances are highly prevalent in LGS and contribute substantially to reduced quality of life. However, no comprehensive analysis has yet been conducted to systematically examine key aspects of sleep—including architecture, microstructure, sleep-disordered breathing, and circadian regulation—leaving critical knowledge gaps. To address this, we conducted a scoping review to map the current evidence on sleep abnormalities in LGS and to identify priorities for future research. Method: A scoping review was conducted following PRISMA-ScR guidelines. PubMed, Embase, Ovid, and ClinicalTrials.gov from inception to October 2025 for studies evaluating sleep parameters in individuals with LGS or mixed epilepsy cohorts with ≥50% LGS cases. Eligible designs included observational and interventional studies using polysomnography, video-EEG, actigraphy, or sleep questionnaires. Data were synthesized narratively due to heterogeneity, and methodological quality was assessed using relevant Joanna Briggs Institute (JBI) checklists. Results: After screening 1242 articles, eleven studies met inclusion criteria, spanning 1986–2025 and conducted across four continents. Most were small single-center observational studies (5–16 LGS participants) using polysomnography as the primary assessment, with others employing wearable monitoring, surface and intracranial EEG, or circadian biomarker analyses. Across studies, individuals with LGS demonstrated markedly disrupted sleep architecture—notably reduced or absent rapid eye movement (REM) sleep, fragmented non-rapid eye movement (NREM) sleep, and attenuated spindles. Microstructural analysis showed elevated cyclic alternating pattern (CAP) rates, with epileptiform discharges clustering in CAP phase A. Sleep-disordered breathing (SDB) was common, particularly in adults, and associated with tonic seizures and central apneas. Circadian rhythm dysregulation, including altered melatonin and cortisol profiles, was also reported. A feasibility study demonstrated that home-based wearable devices and sleep apnea monitors were both acceptable and practical for use in children with LGS. No interventional studies have evaluated whether addressing sleep abnormalities modifies seizure or cognitive outcomes. Interpretation: Sleep in LGS is profoundly disrupted at both macrostructural and microstructural levels. These abnormalities may exacerbate seizure burden, cognitive impairment, and SUDEP risk, representing a potentially modifiable contributor to disease severity. Larger, prospective studies integrating polysomnography, wearable monitoring, and interventional approaches are needed to clarify causal mechanisms and therapeutic potential. Full article

Background: Temporomandibular disorders (TMDs) are increasingly understood within the biopsychosocial framework, which highlights the interplay of biological, psychological, and social factors in their onset and persistence. Within this context, orofacial myofunctional disorders (OMDs) represent a significant biological component, reflecting structural and functional disturbances of the orofacial system that may contribute to temporomandibular dysfunction. Objectives: This pilot study evaluated the effectiveness of orofacial myofunctional therapy (OMT) in improving functional parameters and reducing pain in adults with myogenous TMD accompanied by OMDs. Methods: In this prospective single-arm pilot study, twenty-five adults (aged 25–39 years) with myogenous TMD and coexisting OMDs, diagnosed according to DC/TMD criteria by a dentist trained in DC/TMD assessment and referred for the intervention, completed three biweekly OMT sessions. The therapy comprised myofascial release, oromotor exercises, functional retraining of breathing, chewing, and swallowing, as well as mandibular stabilization and dissociation exercises, complemented by home-based practice. Functional parameters—maximum mouth opening (MAX) and tongue mobility (TRMR-TIP, TRMR-LPS)—were measured before and after each session. Pain intensity (VAS) and quality of life (SF-36) were assessed at baseline and post-intervention. Data were analyzed using the Shapiro–Wilk test, paired t-test, and Wilcoxon signed-rank test. Results: Statistically significant improvements (p < 0.001) were observed across all evaluated parameters. Participants demonstrated increased maximum mouth opening and tongue mobility, along with decreased pain intensity and improved quality of life following the intervention. Conclusions: This pilot study provides preliminary evidence that short-term OMT can yield measurable functional improvements and pain reduction in adults with TMD and associated OMDs. These findings underscore the relevance of addressing orofacial myofunctional impairments as part of the biological dimension within the biopsychosocial model and support the integration of OMT into interdisciplinary TMD management. Full article

Background: Practical, quantitative ultrasound-based tools for measuring hepatic steatosis are needed in everyday MASLD care. We evaluated a new multiparametric quantitative ultrasound (QUS) platform that integrates ultrasound-guided fat fraction (UGFF), attenuation coefficient (AC), backscatter coefficient (BSC), and signal-to-noise ratio (SNR), using Controlled Attenuation Parameter (CAP) as the reference and examining the effect of breathing. Methods: In a prospective single-center study, adult patients underwent same-day liver QUS and FibroScan. QUS measurements were performed during breath-hold and during normal breathing. Regions of interest were placed in right-lobe parenchyma 2 cm below the capsule, avoiding vessels. Primary outcomes were correlation with CAP and ROC performance at CAP cutoffs for S1 (≥230 dB/m), S2 (≥275 dB/m), and S3 (≥300 dB/m). Results: QUS was feasible in almost all examinations. UGFF, BSC, and SNR were consistent across breathing conditions, while AC was slightly higher during normal breathing. UGFF showed strong correlation with CAP and high accuracy for detecting steatosis. Across grades, AUCs were around 0.89–0.91, with cutoffs (UGFF ≈ 4% for ≥S1 and ≈11% for ≥S3). Conclusions: Multiparametric QUS provides reliable liver fat quantification that aligns closely with CAP and remains robust in practice whether patients hold their breath or breathe normally. These findings support UGFF as a practical, reliable point-of-care alternative for liver fat quantification that can be embedded in routine ultrasound in real time. Validation against MRI-PDFF or histology and multicenter studies will further define cutoffs and generalizability. Full article

Background: Physiological and psychological factors are important for determining static breath-hold duration. Preconditioning, such as preparatory apneas at functional residual capacity, is a potentially valuable method for prolonging breath-hold duration at total lung capacity. We investigated the physiological influence of preparatory apneas to determine the possible association with maximal apnea duration via diaphragmatic pressure and electromyographic measurements. Methods: Fourteen male breath-hold divers (39 ± 10 years; body mass, 87.2 ± 8.5 kg; body fat, 14.4 ± 3.8%; body height, 186.6 ± 3.9 cm; training experience, 14.2 ± 9.6 years) were included. We measured diaphragm activity during breath-holds via transdiaphragmatic pressure (Pdia) using balloon-tipped catheters in the stomach and esophagus and electromyographic (EMG) activity. From these, ∆EMG and ∆Pdia for every involuntary breathing movement (IBM) during all apneas were quantified. Furthermore, a pressure difference (difference between the first and last IBM Pdia value) and the respiratory neuromuscular output index (RNMI) (∆Pdia/∆EMG) were included as indirect parameters of the pressure perceived. These variables were measured during three preparatory breath-holds (average duration = 185 ± 69 s and range = 62–309 s, separated by 2.5 min) and three maximal breath-holds (average duration = 308 s and range = 179–733 s, separated by 5 min). Results: The preparatory apnea performed at FRC elicited significantly higher Pdia activity (p < 0.00) and a significantly lower RNMI (p = 0.00–0.01) compared to the maximal apneas. Furthermore, a higher and more pronounced increase in Pdia during the preparatory apnea at FRC was related to longer maximal apneas (Max 1, r = 0.65, p = 0.01; Max 2, r = 0.65, p = 0.02; Max 3, r = 0.66, p = 0.01). Conclusions: The results suggest an acute preconditioning effect of primarily the preparatory apnea at FRC on the duration of the subsequent maximal apneas. The implementation of preparatory apneas preceding maximal apneas during training sessions may elicit a longer breath-hold duration in trained divers. Full article

Background/Objectives: Halitosis is a common oral condition primarily caused by volatile sulfur compounds (VSCs) produced in the oral cavity. Although previous studies have suggested that craniofacial morphology, salivary biochemical characteristics, and functional breathing patterns may relate to malodor development, their combined influence in adults with malocclusion has not been fully clarified. This study aimed to investigate the relationships among craniofacial morphology, salivary biochemical parameters, and mouth breathing in adult patients with malocclusion. Methods: This retrospective cross-sectional study included 234 adults with malocclusion (75 males and 159 females; mean age 29.0 ± 9.5 years). Halitosis was quantified using gas chromatography, and participants were classified into halitosis-positive (total VSC ≥ 150 ppb, n = 79) and halitosis-negative groups (total VSC < 150 ppb, n = 155). Craniofacial morphology was evaluated using lateral cephalometric analysis, salivary biochemical factors were assessed using a multi-item saliva testing system and Saxon test, and mouth breathing was assessed based on standardized clinical indicators. Group comparisons, multiple linear regression, and logistic regression analyses were performed. Results: The halitosis-positive group demonstrated a larger ANB angle, increased overjet, smaller interincisal angle, and higher salivary ammonia levels compared with the halitosis-negative group (p < 0.05). Multiple linear regression identified the interincisal angle as the only independent predictor of total VSC concentration (β = −4.57 per degree reduction in interincisal angle, p = 0.019). Logistic regression revealed that mouth breathing significantly increased the likelihood of halitosis (OR = 4.68, 95% CI: 2.62–8.38). Conclusions: Craniofacial morphology, salivary biochemical environment, and breathing mode collectively influence halitosis in adults with malocclusion. Incorporating assessment of incisor inclination, salivary ammonia levels, and mouth breathing into orthodontic evaluation may support early identification and preventive management of patients at risk for oral malodor. Full article

Background: Spontaneous ventilation with intubation (SVI) during video-assisted thoracoscopic surgery (VATS) has been introduced as a hybrid technique that combines the physiological benefits of spontaneous breathing with the safety of a secured airway. However, its application in patients with chronic obstructive pulmonary disease (COPD) remains controversial due to concerns about hypercapnia, hypoxemia, and dynamic hyperinflation. To date, no study has directly compared COPD and non-COPD patients undergoing VATS lobectomy under SVI using identical anesthetic and surgical protocols. Methods: A prospective observational study was conducted between January 2022 and December 2024 at a single tertiary thoracic surgery center. A total of 36 patients undergoing elective VATS lobectomy with SVI were included and divided into two groups: COPD (n = 17) and non-COPD (n = 19), based on GOLD criteria. All patients were intubated with a double-lumen tube and allowed to maintain spontaneous ventilation during one-lung ventilation (OLV) after recovery from neuromuscular blockade. Arterial blood gas (ABG) samples were collected at four predefined time points (T1–T4), and intraoperative respiratory parameters, hemodynamics, spontaneous ventilation time, and spontaneous ventilation fraction (SpVent%) were recorded. Postoperative outcomes, including ICU stay, complications, and conversion to controlled ventilation, were analyzed. Statistical comparisons were performed using t-test, Mann–Whitney U test, chi-square test, and ANCOVA with adjustment for age, sex, BMI, and FEV₁%. Results: All 36 procedures were successfully completed under SVI without conversion to controlled mechanical ventilation or thoracotomy. Baseline demographics were comparable between COPD and non-COPD patients regarding age (68.4 ± 6.9 vs. 67.8 ± 7.1 years; p = 0.78) and BMI (27.1 ± 4.6 vs. 26.3 ± 4.2 kg/m²; p = 0.56), while pulmonary function was significantly lower in COPD patients (FEV₁/FVC 53.8% (IQR 47.5–59.9) vs. 82.4% (78.5–85.2); p < 0.001). The duration of spontaneous ventilation was significantly longer in the COPD group (82 ± 14 min vs. 58 ± 16 min; p < 0.001), and remained significant after ANCOVA adjustment (β = +23.7 min; p = 0.001). The SpontVent% was higher in COPD patients (80% [70–90] vs. 60% [45–80]), showing a trend toward significance (p = 0.11). Intraoperative permissive hypercapnia was well tolerated: peak PaCO₂ levels at T3 were higher in COPD (52 ± 6 mmHg) than in non-COPD patients (47 ± 5 mmHg; p = 0.06), without pH dropping below 7.25 in either group. No significant differences were observed in mean arterial pressure, oxygen saturation, ICU stay (1.1 ± 0.4 vs. 1.0 ± 0.5 days; p = 0.48), or postoperative complication rates (p = 0.67). All patients were extubated in the operating room. Conclusions: Intubated spontaneous ventilation during VATS lobectomy is feasible and safe in both COPD and non-COPD patients when performed by experienced teams. COPD patients, despite impaired baseline lung function, were able to maintain spontaneous breathing for significantly longer periods without developing severe hypercapnia, acidosis, or hemodynamic instability. These findings suggest that SVI may represent a lung-protective alternative to fully controlled one-lung ventilation, particularly in hypercapnia-adapted COPD patients. Further multicenter studies are warranted to validate these results and define standardized thresholds for CO₂ tolerance, patient selection, and intraoperative monitoring during SVI. Full article

Introduction/Goal: Stress and negative emotions have been shown to exert a substantial impact on cancer patients, affecting their ability to adapt to therapy and the overall effectiveness. Elevated cortisol levels, a stress-induced hormone, have been shown to suppress immune system function, potentially reducing the body’s capacity to combat cancer cells. On the contrary, prolactin, a hormone that stimulates the immune system, has shown potential in this context but requires further study. The objective of this study was to investigate the acute physiological changes that occur during a single Conscious Connected Breathing (CCB) session, as part of a larger investigation on Integrative Breathwork Psychotherapy (IBP), a novel integrative psychosomatic intervention designed to improve psychosomatic and immune status in cancer patients. Methods: The project involved 93 breast cancer patients hospitalized for postoperative radiotherapy who participated in a ten-session IBP program. Fifty-six patients agreed to participate (response rate: 60%). During the experiment, 8 patients were excluded from the analysis. IBP consisted of small group sessions (up to six participants) conducted three times weekly. Each session included 45 min of CCB—defined as rhythmic circular nasal breathing at a depth exceeding resting tidal volume, without breath-holding, performed in a state of mindful acceptance—followed by 15 min of free emotional expression (verbal articulation of emerging feelings and sensations). This was a within-subject pre-post design: physiological measurements were obtained immediately before and 30 min into the tenth session (when participants had achieved technical proficiency) in all participants, who served as their own controls. Outcome measures included: arterialized capillary blood gas parameters (pH, pCO₂, pO₂, ctO₂, COHb, HHb, cH⁺), serum cortisol and prolactin concentrations, and immunoglobulin A (IgA). Results: During the CCB session, blood gas analysis revealed significant changes consistent with mild respiratory alkalosis: decreases in pCO₂ (p = 0.003), pO₂ (p < 0.001), cH⁺ (p < 0.001), ctO₂ (p < 0.001), COHb (p = 0.03), and HHb (p = 0.004), alongside an increase in pH (p < 0.001). Concurrently, prolactin levels increased significantly (p < 0.001), while cortisol (p < 0.001) and IgA (p < 0.001) decreased. Conclusions: This study is the first to analyze acute changes in capillary blood gas parameters and neuroendocrine balance during Conscious Connected Breathing sessions in cancer patients, revealing measurable immunostimulatory and stress-modulatory effects. The observed shift toward respiratory alkalosis, combined with increased prolactin and decreased cortisol, suggests that CCB may facilitate favorable neuroendocrine-immune interactions. These findings support the potential of breathwork as a complementary therapy for cancer patients. Further research is needed to explore underlying mechanisms and assess long-term psychological and immunological impacts. Full article

Background/Objectives: Cystic fibrosis transmembrane conductance regulator modulator (mCFTR) therapy has been proven efficacious in controlled clinical trials for individuals with cystic fibrosis. This post-approval retrospective study aimed to determine the comprehensive effects of elexacaftor/tezacaftor/ivacaftor (ETI) on nutritional status, the respiratory system and quality of life over 12 months of clinical use in paediatric patients treatment-naïve to mCFTR. Methods: A retrospective analysis of records of CF adolescents on ETI therapy was conducted. The selected parameters of anthropometric measurements, body composition assessed by BIA, spirometry, and multiple breath nitrogen washout (MBNW) to measure lung clearance index (LCI), were evaluated before therapy and at 3 and 12 months after treatment initiation. Additionally, children completed the Cystic Fibrosis Questionnaire-Revised (CFQ-R). Results: Over 18 months, data from 58 patients (mean age 14.34 ± 1.70, 50% female; 43% homozygous F508del) on ETI were collected. Body weight increased significantly over 12 months, with a mean gain of 3.33 kg at 3 months (p < 0.001) and 7.10 kg at 12 months (p < 0.001), alongside improvements in BMI z-score, fat-free mass, and fat mass. Significant changes (p < 0.001) were also observed after 3 and 12 months in ppFEV₁ (8.91 ± 8.23; 9.67 ± 8.77) and ppFVC (4.46 ± 5.24; 4.61 ± 5.70), with a decrease in LCI (−1.62 ± 2.15; −1.68 ± 1.89). The CFQ-R Respiratory score increased by 11.75 points and correlated with most of the pulmonary and nutritional parameters. Conclusions: In real-world settings, clinical improvement during ETI therapy reflects a comprehensive impact on nutritional status, body composition, pulmonary function, and quality of life for adolescents with CF. Full article

Background/Objectives: To evaluate the prevalence, age at diagnosis, non-invasive ventilation pressures used in management, and clinical predictors for sleep disordered breathing (SDB) in pediatric patients with muscular dystrophies (MDs). Methods: A retrospective analysis of 195 polysomnography (PSG) studies conducted over 20 years for 98 children with different MDs was performed. Diagnosis of SDB was established if a child met the diagnostic criteria for one or more of the following conditions: obstructive sleep apnea (OSA), central apnea, nocturnal hypoxemia, or nocturnal hypoventilation. Outcomes were assessed and compared between MDs. Positive and negative predictive values (PPV, NPV), sensitivity, and specificity for detecting SDB were calculated for certain clinical parameters. Results: SDB was diagnosed in 73.6% of children with MDs, including OSA in 67%, followed by nocturnal hypoxemia (15.3%), nocturnal hypoventilation (7.7%), and central apnea (6.6%). The age at diagnosis and BiPAP pressures used varied between MDs. Patients with Congenital MD had the lowest mean age and required higher pressures (p < 0.05). PPV was high for maximum inspiratory or expiratory pressures (MIP, MEP) < 40% or <60%, forced vital capacity < 50% or <80%, total lung capacity < 60%, left ventricular ejection fraction < 50%, non-ambulation, and body mass index ≥ 95% for the presence of SDB. However, NPV, sensitivity, and specificity varied. Conclusions: SDB is common in pediatric patients with MDs, with OSA being the most prevalent disorder. The age at diagnosis and required BiPAP pressures for management differ among MD groups. Certain clinical measures may help identify some patients with the disease given the high PPV. Full article