Prevalence of sleep-disordered breathing in children and adolescents with large horizontal maxillary overjet due to mandibular retrognathia: a case control study.

STUDY OBJECTIVES: The aim of the study was to examine the prevalence of sleep-disordered breathing (SDB) in children and adolescents with large overjet due to mandibular retrognathia compared to a control group. METHODS: In this case-control study children with large overjet ≥ 6 mm due to mandibular retrognathia (study group) were compared to a group with neutral occlusion (controls). All participants underwent respiratory polygraphy (PG) and questionnaires regarding sleepiness and snoring. Differences across groups were tested by: Chi-square, general linear model adjusted for age, sex, and body mass index (BMI), and Mann-Whitney test. Differences in results of PG were also tested by general linear model adjusted for age, sex, and BMI according to severity of mandibular retrognathia. RESULTS: Thirty-seven (19 male;18 female, median age 12.3 years) participants were included in the study group and 32 (16 male;16 female, median age 12.2 years) in the control group. No significant difference in SDB assessed by PG or questionnaires between the groups was found even though the snore index was higher in the study group (p=0.051). The snore index was higher than the parent-reported snoring. Respiration rate was significantly reduced in the study group (p=0.043), and estimated sleep time efficiency was significantly reduced in males compared to females (p<0.001). CONCLUSIONS: No significant differences in SDB were found between the groups even though the snore index was higher in the study group. The snore index of the PG was higher than the parent-reported snoring. Estimated sleep time efficiency was reduced in males. The study improves the understanding of risk of SDB in non-obese children with large overjet due to mandibular retrognathia and may contribute to an interdisciplinary approach of risk assessment of SDB in children with malocclusion. CLINICAL TRIAL REGISTRATION: NCT04964830.

Exploring the relationship between smoking and poor sleep quality: a cross-sectional study using NHANES.

Introduction: Sleeping disorders is a high prevalent disorder, and although previous research has suggested a link between smoking and sleep disorders, there is a lack of large-scale, nationally representative studies examining this association across multiple sleep outcomes and exploring dose-response relationships. Methods: This study used data from 30,269 participants from the NHANES database (2007-2020). Weighted logistic regression models were used to assess the associations between smoking status (non-smoker, light smoker, moderate smoker, and heavy smoker) and various sleep outcomes, including insufficient sleep duration, reported sleep problems, snoring, snorting, or stopping breathing during sleep, and daytime sleepiness. Dose-response relationships were explored using restricted cubic splines. Results: Compared to non-smokers, heavy smokers had significantly higher odds of experiencing insufficient sleep duration with OR 1.732 (95% CI 1.528-1.963, P <0.001), reported sleep problems with OR 1.990 (95% CI 1.766-2.243, P <0.001), occasional or frequent snoring with OR 1.908 (95% CI 1.164-3.128, P = 0.03), and occasional or frequent snorting or stopping breathing during sleep with OR 1.863 (95% CI 1.183-2.936, P = 0.022), while results for sometimes, often or almost always being overly sleepy during the day with OR 1.257 (95% CI 0.872-1.810, P = 0.115) are not significant. A trend of positive correlation was observed between smoking and all sleep disorder outcomes (P for trend < 0.05). Dose-response analyses revealed that the odds of these sleep outcomes increased with higher smoking levels. Conclusion: Smoking is significantly associated with various sleep disorders, and a dose-response relationship exists between smoking levels and the odds of experiencing these sleep problems. These findings underscore the importance of addressing smoking as a modifiable risk factor for poor sleep health and suggest that reducing smoking, even if complete cessation is not achieved, may have positive effects on sleep outcomes.

Treatment of obstructive sleep apnea syndrome (OSAS) with mandibular advancement devices-A statement of the Portuguese society of pulmonology, the Portuguese society of stomatology and dental medicine, the Portuguese dental association, and the Portuguese society of temporomandibular disorders, orofacial pain and sleep.

With the purpose of establishing a consensus around clinical orientations for professionals involved in managing patients with sleep breathing disorders (SBD), an interdisciplinary group of scientific societies involved in this field discussed and reviewed all the published international guidelines from the American Dental Association, American Academy of Sleep Medicine, American Academy of Dental Sleep Medicine and the European counterparts. Treatment of SBD is multidisciplinary and should be made in concert with the patient, the sleep physician, and the qualified dentist to solve the individual, social, and economic burden of the disease,. This consensus document represents the current thinking of a team of Portuguese experts on managing patients with SBD based on the available evidence.

Oral Appliances for Obstructive Sleep Apnea.

The use of mandibular repositioning devices (MRDs) in the management of patients with obstructive sleep apnea (OSA) has gained extensive recognition with relevant clinical evidence of its effectiveness. MRDs are designed to advance and hold the mandible in a protrusive position to widen the upper airway and promote air circulation. This review of the MRD aims to provide an evidence-based update on the optimal design features of an MRD, an analysis of the variety of appliances available, and the current understanding of the action mechanism.

Effects of orthognathic surgery on respiratory function during sleep: A prospective longitudinal study.

When treating patients with orthognathic surgery, there might be a risk of obstructive sleep apnoea (OSA) due to soft tissue changes in the upper airways, especially in patients treated with isolated mandibular setback or mandibular setback in combination with maxillary advancement. In the present study, we assessed respiratory function during sleep with home cardiorespiratory polygraphy in 62 patients who had not been previously been diagnosed with OSA at three times: prior to orthognathic surgery for aesthetic and functional indications, and then 3 months and 1 year after surgery. We evaluated surgical displacement based on measurements in three dimensions using pre- and post-operative computed tomography. There were only minor changes in the respiratory parameters such as the apnoea-hypopnoea index (AHI), the apnoea-hypopnoea index in the supine position (AHIsup), the oxygen saturation index (ODI) and the snore index. There was no significant correlation between surgical displacement and the AHI, AHIsup and ODI. There was a weak but significant correlation between vertical displacement of the anterior mandible and the snore index. Within the limitations of the present study, the risk for iatrogenic obstruction of the upper airways seems to be low in patients without OSA treated with orthognathic surgery.

Snoring and risk of dementia: a prospective cohort and Mendelian randomization study.

STUDY OBJECTIVES: The association between snoring, a very common condition that increases with age, and dementia risk is controversial. We aimed to investigate the observational and causal relationship between snoring and dementia, and to elucidate the role of body mass index (BMI). METHODS: Using data from 451,250 participants who were dementia-free at baseline, we examined the association between self-reported snoring and incident dementia using Cox proportional-hazards models. Causal relationship between snoring and Alzheimer's disease (AD) was examined using bidirectional two-sample Mendelian randomization (MR) analysis. RESULTS: During a median follow-up of 13.6 years, 8,325 individuals developed dementia. Snoring was associated with a lower risk of all-cause dementia (hazard ratio [HR] 0.93; 95% confidence interval [CI] 0.89 to 0.98) and AD (HR 0.91; 95% CI 0.84 to 0.97). The association was slightly attenuated after adjusting for BMI, and was stronger in older individuals, APOE ε4 allele carriers, and during shorter follow-up periods. MR analyses suggested no causal effect of snoring on AD, however, genetic liability to AD was associated with a lower risk of snoring. Multivariable MR indicated that the effect of AD on snoring was primarily driven by BMI. CONCLUSIONS: The phenotypic association between snoring and lower dementia risk likely stems from reverse causation, with genetic predisposition to AD associated with reduced snoring. This may be driven by weight loss in prodromal AD. Increased attention should be paid to reduced snoring and weight loss in older adults as potential early indicators of dementia risk.

Sleep patterns, genetic susceptibility, and risk of cirrhosis among individuals with nonalcoholic fatty liver disease.

BACKGROUND: The associations between sleep patterns or behaviors and the risk of cirrhosis and the influence of genetic susceptibility on these associations among NAFLD participants remain inadequately elucidated. METHODS: This study conducted a prospective follow-up of 112,196 NAFLD participants diagnosed at baseline from the UK Biobank cohort study. Five sleep behaviors were collected to measure a healthy sleep score. Five genetic variants were used to construct a polygenic risk score. We used Cox proportional hazard model to assess hazard ratios (HR) and 95% confidence intervals (CIs) for incidence of cirrhosis. RESULTS: During the follow-up, 592 incident cirrhosis cases were documented. Healthy sleep pattern was associated with reduced risk of cirrhosis in a dose-response manner (ptrend < 0.001). Participants with favourable sleep score (versus unfavourable sleep score) had an HR of 0.55 for cirrhosis risk (95% CI 0.39-0.78). Multivariable-adjusted HRs (95% CIs) of cirrhosis incidence for NAFLDs with no frequent insomnia, sleeping for 7-8 h per day, and no excessive daytime dozing behaviors were 0.73 (0.61-0.87), 0.79 (0.66-0.93), and 0.69 (0.50-0.95), respectively. Compared with participants with favourable sleep pattern and low genetic risk, those with unfavourable sleep pattern and high genetic risk had higher risks of cirrhosis incidence (HR 3.16, 95% CI 1.88-5.33). In addition, a significant interaction between chronotype and genetic risk was detected for the incidence of cirrhosis (p for multiplicative interaction = 0.004). CONCLUSION: An association was observed between healthy sleep pattern and decreased risk of cirrhosis among NAFLD participants, regardless of low or high genetic risk.

Management of primary snoring in adults: A scoping review examining interventions, outcomes and instruments used to assess clinical effects.

While various treatment options for primary snoring are available, evidence-based recommendations to determine the optimal intervention remain unestablished. To inform future directions of research to guide clinical decision-making, this scoping review was conducted to map the existing evidence on interventions for primary snoring, the outcomes and instruments used to assess their clinical effects in adults. The feasibility of conducting further systematic reviews and comparing outcomes across these therapies using network meta-analysis was also assessed. Of the 1673 records identified, 38 interventional studies met the inclusion criteria with three-fifths of them being before-after studies. The most common reason for study exclusion was results being reported for patients with primary snoring and obstructive sleep apnoea (OSA) combined. Interventions were surgical (73 %), behavioural and the use of devices/medications. Twenty-six common outcomes were identified and categorised into six domains. Fifty-nine instruments were used to assess the outcomes and based mainly on non-validated questionnaires. Our findings indicated (1) the need for randomised controlled trials with strict discrimination between patients with primary snoring and OSA, (2) further network meta-analyses using some outcomes is feasible, and (3) a core outcome set to inform standardised reporting for future research should be developed.

A comparison of caregiver-reported snoring and objective snoring in children from urban neighborhoods.

OBJECTIVE: Sleep Disordered Breathing (SDB) is both prevalent and under-recognized in pediatric minority populations. Recognition of SDB is often triggered by symptoms of caregiver-reported snoring. However, the validity and utility of caregiver reports likely vary across populations. Our objective is to assess the association between caregiver-reported snoring and objectively recorded snoring in a low-income urban community and explore factors associated with agreement between objective and subjective snoring. METHODS: 169 6 to 12 year old participants underwent at-home sleep studies with a WatchPAT device as part of the Environmental Assessment of Sleep in Youth (EASY) cohort study. Differences in subjective snoring, objective snoring, and concordance between subjective and objective snoring based on socioeconomic and clinical characteristics were assessed. RESULTS: The sample had a high proportion of non-white (78.9 %) and low income (39.6 %) children. Caregivers reported snoring for 20.7 % of the children and snoring was measured objectively for 21.9 %. Of those with objective snoring, only 29.7 % were identified as snorers by caregiver report (sensitivity: 0.30; specificity: 0.82). Primary Spanish language and co-sleeping were associated with increased caregiver reported snoring, and allergy was associated with increased objective snoring. Older child age and normal range BMI percentile were associated with higher concordance between caregiver and objective snoring. CONCLUSIONS: Among a community-based, predominantly minority sample, caregiver-reported snoring resulted in under-estimation of prevalence of objectively assessed snoring. Reliance on caregiver report may poorly identify children with snoring or SDB in clinical practice.

Diagnosis and management of obstructive sleep apnoea in adults.

Obstructive sleep apnoea is the most common form of sleep-disordered breathing. It is characterised by recurrent occlusion of the airway during sleep. Ensuing apnoeas terminate in arousal from sleep and lead to non-restorative sleep, excessive daytime sleepiness and adverse cardiovascular and neurocognitive effects. A sleep study should be offered to patients reporting witnessed apnoeas or symptoms related to non-restorative sleep. It should also be considered in the presence of predisposing factors for obstructive sleep apnoea (e.g. obesity, tonsillar hypertrophy, retrognathia, refractory hypertension). Treatment should aim to improve symptoms and reduce cardiovascular and neurocognitive risk. The treatment approach should consider the symptom burden, severity, anatomical factors, and patient preference. Positive airway pressure is the most effective treatment option, although intolerance and non-adherence are common. Other options include positional therapy, oral appliances and upper airway surgery. Weight loss and optimisation of cardiovascular disease risk should be considered in selected patients.

Automatic detection of obstructive sleep apnea based on speech or snoring sounds: a narrative review.

Background and Objective: Obstructive sleep apnea (OSA) is a common chronic disorder characterized by repeated breathing pauses during sleep caused by upper airway narrowing or collapse. The gold standard for OSA diagnosis is the polysomnography test, which is time consuming, expensive, and invasive. In recent years, more cost-effective approaches for OSA detection based in predictive value of speech and snoring has emerged. In this paper, we offer a comprehensive summary of current research progress on the applications of speech or snoring sounds for the automatic detection of OSA and discuss the key challenges that need to be overcome for future research into this novel approach. Methods: PubMed, IEEE Xplore, and Web of Science databases were searched with related keywords. Literature published between 1989 and 2022 examining the potential of using speech or snoring sounds for automated OSA detection was reviewed. Key Content and Findings: Speech and snoring sounds contain a large amount of information about OSA, and they have been extensively studied in the automatic screening of OSA. By importing features extracted from speech and snoring sounds into artificial intelligence models, clinicians can automatically screen for OSA. Features such as formant, linear prediction cepstral coefficients, mel-frequency cepstral coefficients, and artificial intelligence algorithms including support vector machines, Gaussian mixture model, and hidden Markov models have been extensively studied for the detection of OSA. Conclusions: Due to the significant advantages of noninvasive, low-cost, and contactless data collection, an automatic approach based on speech or snoring sounds seems to be a promising tool for the detection of OSA.

Validation of Downloadable Mobile Snore Applications by Polysomnography (PSG).

Purpose: Obstructive sleep apnea (OSA) is a common breathing disorder during sleep that is associated with symptoms such as snoring, excessive daytime sleepiness, and breathing interruptions. Polysomnography (PSG) is the most reliable diagnostic test for OSA; however, its high cost and lengthy testing duration make it difficult to access for many patients. With the availability of free snore applications for home-monitoring, this study aimed to validate the top three ranked snore applications, namely SnoreLab (SL), Anti Snore Solution (ASS), and Sleep Cycle Alarm (SCA), using PSG. Patients and Methods: Sixty participants underwent an overnight PSG while simultaneously using three identical smartphones with the tested apps to gather sleep and snoring data. Results: The study discovered that all three applications were significantly correlated with the total recording time and snore counts of PSG, with ASS showing good agreement with snore counts. Furthermore, the Snore Score, Time Snoring of SL, and Sleep Quality of SCA had a significant correlation with the natural logarithm of apnea hypopnea index (lnAHI) of PSG. The Snore Score of SL and the Sleep Quality of SCA were shown to be useful for evaluating snore severity and for pre-diagnosing or predicting OSA above moderate levels. Conclusion: These findings suggest that some parameters of free snore applications can be employed to monitor OSA progress, and future research could involve adjusted algorithms and larger-scale studies to further authenticate these downloadable snore and sleep applications.

An audio-semantic multimodal model for automatic obstructive sleep Apnea-Hypopnea Syndrome classification via multi-feature analysis of snoring sounds.

Introduction: Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS) is a common sleep-related breathing disorder that significantly impacts the daily lives of patients. Currently, the diagnosis of OSAHS relies on various physiological signal monitoring devices, requiring a comprehensive Polysomnography (PSG). However, this invasive diagnostic method faces challenges such as data fluctuation and high costs. To address these challenges, we propose a novel data-driven Audio-Semantic Multi-Modal model for OSAHS severity classification (i.e., ASMM-OSA) based on patient snoring sound characteristics. Methods: In light of the correlation between the acoustic attributes of a patient's snoring patterns and their episodes of breathing disorders, we utilize the patient's sleep audio recordings as an initial screening modality. We analyze the audio features of snoring sounds during the night for subjects suspected of having OSAHS. Audio features were augmented via PubMedBERT to enrich their diversity and detail and subsequently classified for OSAHS severity using XGBoost based on the number of sleep apnea events. Results: Experimental results using the OSAHS dataset from a collaborative university hospital demonstrate that our ASMM-OSA audio-semantic multimodal model achieves a diagnostic level in automatically identifying sleep apnea events and classifying the four-class severity (normal, mild, moderate, and severe) of OSAHS. Discussion: Our proposed model promises new perspectives for non-invasive OSAHS diagnosis, potentially reducing costs and enhancing patient quality of life.

An unusual case of long-standing retained nasopharyngeal foreign body.

The nasopharynx is a rare anatomical location where a foreign body may become lodged after being ingested or inhaled. We are presenting a rare case of nasopharyngeal foreign body impaction in a two-and-a-half-year-old child that had been missed for almost a year. The child presented with a history of right-sided foul-smelling nasal discharge, snoring and mouth breathing. An X-Ray soft tissue lateral view of the post-nasal space showed an irregular partially radiopaque nasopharyngeal foreign body. The removal of the foreign body was performed under general anaesthesia successfully. Foreign body impaction in the nasopharynx can easily be missed and it is important to keep this region in mind when dealing with missing inhaled or ingested foreign bodies.

Automatically detecting OSAHS patients based on transfer learning and model fusion.

Objective. Snoring is the most typical symptom of obstructive sleep apnea hypopnea syndrome (OSAHS) that can be used to develop a non-invasive approach for automatically detecting OSAHS patients.Approach. In this work, a model based on transfer learning and model fusion was applied to classify simple snorers and OSAHS patients. Three kinds of basic models were constructed based on pretrained Visual Geometry Group-16 (VGG16), pretrained audio neural networks (PANN), and Mel-frequency cepstral coefficient (MFCC). The XGBoost was used to select features based on feature importance, the majority voting strategy was applied to fuse these basic models and leave-one-subject-out cross validation was used to evaluate the proposed model.Main results. The results show that the fused model embedded with top-5 VGG16 features, top-5 PANN features, and MFCC feature can correctly identify OSAHS patients (AHI > 5) with 100% accuracy.Significance. The proposed fused model provides a good classification performance with lower computational cost and higher robustness that makes detecting OSAHS patients at home possible.

Snoring-generated fluid droplets as a potential mechanistic link between sleep-disordered breathing and pneumonia.

The soft palate and back of the throat represent vulnerable early infection sites for SARS-CoV-2, influenza, streptococci, and many other pathogens. We demonstrate that snoring causes aerosolization of pharyngeal fluid that covers these surfaces, which previously has escaped detection because the inspired airstream carries the micron-sized droplets into the lung, inaccessible to traditional aerosol detectors. While many of these droplets will settle in the lower respiratory tract, a fraction of the respirable smallest droplets remains airborne and can be detected in exhaled breath. We distinguished these exhaled droplets from those generated by the underlying breathing activity by using a chemical tracer, thereby proving their existence. The direct transfer of pharyngeal fluids and their pathogens into the deep lung by snoring represents a plausible mechanistic link between the previously recognized association between sleep-disordered breathing and pneumonia incidence.

Prevalence and risk factors of sleep bruxism in adults with primary snoring: a large-scale polysomnographic study.

STUDY OBJECTIVES: To determine the prevalence and risk factors of sleep bruxism (SB) in adults with primary snoring (PS). METHODS: This study included 292 adults with PS (140 males, 152 females; mean age ± SD = 42.8 ±12.2 years; mean BMI ± SD = 26.7 ± 4.7 kg/m2) without previous treatment for snoring. SB was diagnosed based on the frequency of the biomarker of SB: rhythmic masticatory muscle activity (RMMA; SB when RMMA ≥ 2 episodes/hour). Logistic regression was performed, with SB as the dependent variable and with age, sex, BMI, and sleep- and respiratory-related polysomnographic parameters as the independent variables to identify the risk factors for SB. RESULTS: The prevalence of SB was 44.6% in adults with PS. Younger age (OR = 0.965 [0.944, 0.987]) and shorter total sleep time (OR = 0.760 [0.609, 0.948]) significantly increased the risk of SB (P < 0.05). CONCLUSIONS: SB is highly prevalent in adults with PS. Younger age and shorter sleep time are significant risk factors for SB in adults with PS. CLINICAL TRIAL REGISTRATION: Registry: Netherlands Trial Register; Name: A Large Sample Polysomnographic Study on Sleep Bruxism; Identifier: NL8516.

Snoring is associated with hypertension and diabetes mellitus among adults in north Sudan: a cross-sectional study.

BACKGROUND: Different levels of association between snoring, hypertension, and diabetes mellitus (DM) are reported. There are few published studies on this topic in African countries, and no investigation was conducted in Sudan. This study aimed to assess the prevalence and factors associated with snoring and the association between snoring, hypertension, and type 2 DM (T2DM) in northern Sudan. METHODS: A community-based cross-sectional study using a multistage sampling technique was conducted in four villages in the River Nile state of northern Sudan from July to September 2021. Sociodemographic characteristics were collected using a questionnaire. Body mass index (BMI) was measured using standard methods, and a multivariate analysis was conducted using the Statistical Package for the Social Sciences® (SPSS®) for Windows, version 22.0. RESULTS: Of the 384 adults, 193 (50.3%) were males and 191 (49.7%) were females. Of the adults, 38 (9.9%) were underweight, 121 (31.5%) had average weight, 113 (29.4%) were overweight, and 112 (29.2%) were obese. One hundred and six (27.6%) adults were snorers. Multivariate analysis showed that increasing age (adjusted odds ratio [AOR] = 1.02, 95% confidence interval [CI] = 1.01‒1.04), increasing BMI (AOR = 1.04, 95 CI = 1.01‒1.08), obesity (AOR = 2.0, 95% CI = 1.10‒3.69), and alcohol consumption (AOR = 2.32, 95% CI = 1.14‒4.74) were positively associated with snoring. Of the 384 adults, 215 (56.0%) had hypertension. Multivariate analysis showed that increasing age (AOR = 1.04, 95% CI = 1.02‒1.06), increasing BMI (AOR = 1.08, 95% CI = 1.04‒1.13), female sex (AOR = 1.7, 95% CI = 1.08‒2.73), and snoring (AOR = 1.69, 95% CI = 1.02‒2.82) were positively associated with hypertension. One hundred and six (27.6%) adults had T2DM. Multivariate analysis showed that increasing age (AOR = 1.03, 95% CI = 1.01‒1.05) and snoring (AOR = 1.78, 95% CI = 1.09‒2.91) were associated with T2DM. CONCLUSION: Around one-fourth of the adults in Northern Sudan are snorers. Snoring is more common among obese adults. Snoring is associated with increased odds of hypertension and T2DM. Adults who snore must pay close attention to their blood pressure and blood glucose levels to prevent hypertension and DM.

Development and validation of a scale for the assessment of the knowledge-attitude-practice of parents towards children snoring.

BACKGROUND: Children Snoring is a common childhood disorder that affects the growth and development of children and is detrimental to their health. Increasing awareness of Children Snoring among parents is important. AIM: To develop the Knowledge-Attitude-Practice of Parents towards Children Snoring Scale and test the reliability and validity of the scale. METHODS: The development of the tool was divided into two phases involving 1257 parents from China. In the first phase, an initial project bank was created through a literature review. This was followed by a Delphi expert consultation, group discussion and pre-survey. The second stage screened the items and conducted an exploratory factor analysis, then conducted a confirmatory factor analysis and tested for reliability and validity. RESULTS: Support was found for the 25-item Knowledge-Attitude-Practice toward Children Snoring scale. Exploratory and confirmatory factor analyses provide support for four subscales: (parental basic cognition toward Children Snoring; parents' perception of complications of Children Snoring; parents' attitude towards Children Snoring; parents' concern and prevention of Children Snoring). Internal consistency for the total scale was high (Cronbach's α = 0.93). The intraclass correlation coefficient of test-retest reliability was 0.92 (95%CI: 0.85 to 0.95), which provided support for the stability of the scale. CONCLUSION: The Knowledge-Attitude-Practice of Parents towards Children Snoring scale shows promise as a measure that may be used by medical workers and community children's health managers.

Desmin gene expression is not ubiquitous in all upper airway myofibers and the pattern differs between healthy and sleep apnea subjects.

BACKGROUND: Desmin is a major cytoskeletal protein considered ubiquitous in mature muscle fibers. However, we earlier reported that a subgroup of muscle fibers in the soft palate of healthy subjects and obstructive sleep apnea patients (OSA) lacked immunoexpression for desmin. This raised the question of whether these fibers also lack messenger ribonucleic acid (mRNA) for desmin and can be considered a novel fiber phenotype. Moreover, some fibers in the OSA patients had an abnormal distribution and aggregates of desmin. Thus, the aim of the study was to investigate if these desmin protein abnormalities are also reflected in the expression of desmin mRNA in an upper airway muscle of healthy subjects and OSA patients. METHODS: Muscle biopsies from the musculus uvulae in the soft palate were obtained from ten healthy male subjects and six male patients with OSA. Overnight sleep apnea registrations were done for all participants. Immunohistochemistry, in-situ hybridization, and reverse transcription-quantitative polymerase chain reaction (RT-qPCR) techniques were used to evaluate the presence of desmin protein and its mRNA. RESULTS: Our findings demonstrated that a group of muscle fibers lacked expression for desmin mRNA and desmin protein in healthy individuals and OSA patients (12.0 ± 5.6% vs. 23.1 ± 10.8%, p = 0.03). A subpopulation of these fibers displayed a weak subsarcolemmal rim of desmin accompanied by a few scattered mRNA dots in the cytoplasm. The muscles of OSA patients also differed from healthy subjects by exhibiting muscle fibers with reorganized or accumulated aggregates of desmin protein (14.5 ± 6.5%). In these abnormal fibers, the density of mRNA was generally low or concentrated in specific regions. The overall quantification of desmin mRNA by RT-qPCR was significantly upregulated in OSA patients compared to healthy subjects (p = 0.01). CONCLUSIONS: Our study shows evidence that muscle fibers in the human soft palate lack both mRNA and protein for desmin. This indicates a novel cytoskeletal structure and challenges the ubiquity of desmin in muscle fibers. Moreover, the observation of reorganized or accumulated aggregates of desmin mRNA and desmin protein in OSA patients suggests a disturbance in the transcription and translation process in the fibers of the patients.