Cephalometric measures correlate with polysomnography parameters in individuals with midface deficiency.
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ABSTRACT:
SUBMITTER: Bittar RF
PROVIDER: S-EPMC8042057 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Asthma is a chronic airway disease affecting millions of people. Better methods to define asthma subgroups using clinical parameters and molecular biomarkers are crucial in the development of personalized medicine. OBJECTIVE:The aim of this study was to determine if circulating microRNAs (miRNAs) may be used to distinguish well-defined asthma groups. METHODS:Blood serum from 116 well-defined subjects, including healthy controls and individuals with allergic or non-allergic asthma, from the West Sweden Asthma Study were included. Serum was analyzed for circulating miRNA expression of miR-126, -?145, -146a, -?155, -?223, and -374a and eosinophil cationic protein (ECP). Correlations between clinical characteristics and circulating miRNA expression as well as potential miRNA gene targets were investigated. RESULTS:A subset of miRNAs were differentially expressed between allergic and non-allergic asthmatic individuals. Alterations in expression of miR-155, -146a, -374a and?-?145 were observed in allergic asthmatics in response to inhaled corticosteroid usage. Additionally, miR-223 and miR-374a expression varied in non-allergic asthmatics based on blood eosinophil numbers. Numerous clinical parameters, including lung function measurements, correlated with subsets of miRNAs. Finally, pathway analysis revealed a potential role for inhaled corticosteroid induced miRNAs in leukocyte regulation, IL-6 signaling and glucocorticoid response. CONCLUSION:Circulating miRNA expression was altered in subjects with allergic and non-allergic asthma and correlated to clinical parameters including lung function and potential gene targets involved in immune processes. This combination of clinical and molecular data may be a basis for the further, more precise classification of asthma subgroups. Taken together, these findings would further asthma research and benefit future patients through the discovery of molecular mechanisms as well as identifying asthma subgroups contributing to the development of personalized medicine.
| S-EPMC7203878 | biostudies-literature
Project description:Genetic and environmental factors may lead to abnormal growth of the orofacial skeleton, affecting the overall structure of the face. In this study, we investigated the craniofacial abnormalities in a mouse model for Keutel syndrome, a rare genetic disease caused by loss-of-function mutations in the matrix Gla protein (MGP) gene. Keutel syndrome patients show diffuse ectopic calcification of cartilaginous tissues and impaired midface development. Our comparative cephalometric analyses of micro-computed tomography images revealed a severe midface hypoplasia in Mgp-/- mice. In vivo reporter studies demonstrated that the Mgp promoter is highly active at the cranial sutures, cranial base synchondroses, and nasal septum. Interestingly, the cranial sutures of the mutant mice showed normal anatomical features. Although we observed a mild increase in mineralization of the spheno-occipital synchondrosis, it did not reduce the relative length of the cranial base in comparison with total skull length. Contrary to this, we found the nasal septum to be abnormally mineralized and shortened in Mgp-/- mice. Transgenic restoration of Mgp expression in chondrocytes fully corrected the craniofacial anomalies caused by MGP deficiency, suggesting a local role for MGP in the developing nasal septum. Although there was no up-regulation of markers for hypertrophic chondrocytes, a TUNEL assay showed a marked increase in apoptotic chondrocytes in the calcified nasal septum. Transmission electron microscopy confirmed unusual mineral deposits in the septal extracellular matrix of the mutant mice. Of note, the systemic reduction of the inorganic phosphate level was sufficient to prevent abnormal mineralization of the nasal septum in Mgp-/-;Hyp compound mutants. Our work provides evidence that modulation of local and systemic factors regulating extracellular matrix mineralization can be possible therapeutic strategies to prevent ectopic cartilage calcification and some forms of congenital craniofacial anomalies in humans.
| S-EPMC5500805 | biostudies-literature
Project description:Rett Syndrome (RTT, OMIM 312750), a unique rare neurodevelopmental disorder, mostly affects females and causes severe multi-disabilities including poor sleep. This meta-analysis systematically reviewed the polysomnographic (PSG) data of individuals with RTT on both sleep macrostructure and sleep respiratory indexes and compared them to literature normative values. Studies were collected from PubMed, Web of Science, PsycINFO, Ebsco, Scopus, and Cochrane Library till 26 April 2022. Across 13 included studies, the 134 selected RTT cases were mostly females being MECP2 (n = 41) and CDKL5 (n = 4) positive. They were further stratified by gene, age, and clinical features. Findings of comparison with literature normative values suggested shorter total sleep time (TST) and sleep onset latency (SOL), twice as long wake after sleep onset (WASO) with lower sleep efficiency (SEI) in RTT, as well as increased non-rapid eye movement stage 3 (stage N3) and decreased rapid eye movement sleep. Based on limited data per stratifications, we found in RTT cases <5 years old lower stage N3, and in RTT cases >5 years old less WASO and more WASO in the epileptic strata. However, meta-results generated from studies designed with comparison groups only showed lower stage N1 in RTT than in healthy comparison, together with similar SEI and stage N3 to primary snoring subjects. For sleep respiratory indexes, severe disordered sleep breathing was confirmed across roughly all RTT strata. We are the first study to meta-analyze PSG data of subjects with RTT, illustrating shorter TST and aberrant sleep staging in RTT that may vary with age or the presence of epilepsy. Severe nocturnal hypoxemia with apneic events was also demonstrated. More studies are needed to explore and elucidate the pathophysiological mechanisms of these sleep findings in the future.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?RecordID=198099, identifier: CRD 42020198099.
| S-EPMC9530595 | biostudies-literature
Project description:Effective monitoring of respiratory disturbances during sleep requires a sensor capable of accurately capturing chest movements or airflow displacement. Gold-standard monitoring of sleep and breathing through polysomnography achieves this task through dedicated chest/abdomen bands, thermistors, and nasal flow sensors, and more detailed physiology, evaluations via a nasal mask, pneumotachograph, and airway pressure sensors. However, these measurement approaches can be invasive and time-consuming to perform and analyze. This work compares the performance of a non-invasive wearable stretchable morphic sensor, which does not require direct skin contact, embedded in a t-shirt worn by 32 volunteer participants (26 males, 6 females) with sleep-disordered breathing who performed a detailed, overnight in-laboratory sleep study. Direct comparison of computed respiratory parameters from morphic sensors versus traditional polysomnography had approximately 95% (95 ± 0.7) accuracy. These findings confirm that novel wearable morphic sensors provide a viable alternative to non-invasively and simultaneously capture respiratory rate and chest and abdominal motions.
| S-EPMC10377422 | biostudies-literature
Project description:The dynamics and diversity of human gut microbiota that can remarkably influence the wellbeing and health of the host are constantly changing through the host's lifetime in response to various factors. The aim of the present study was to determine a set of parameters that could have a major impact on classifying subjects into a single cluster regarding gut bacteria composition. Therefore, a set of demographical, environmental, and clinical data of healthy adults aged 25-50 years (117 female and 83 men) was collected. Fecal microbiota composition was characterized using Illumina MiSeq 16S rRNA gene amplicon sequencing. Hierarchical clustering was performed to analyze the microbiota data set, and a supervised machine learning model (SVM; Support Vector Machines) was applied for classification. Seventy variables from collected data were included in machine learning analysis. The agglomerative clustering algorithm suggested the presence of four distinct community types of most abundant bacterial phyla. Each cluster harbored a statistically significant different proportion of bacterial phyla. Regarding prediction, the most important features classifying subjects into clusters were measures of obesity (waist to hip ratio, BMI, and visceral fat index), total body water, blood pressure, energy intake, total fat, olive oil intake, total fiber intake, and water intake. In conclusion, the SVM model was shown as a valuable tool to classify healthy individuals based on their gut microbiota composition.
| S-EPMC7551767 | biostudies-literature
Project description:BackgroundRecent evidence suggests that disinhibition and/or hyperexcitation of the brainstem descending pathways and intraspinal motor network diffuse spastic synergistic activation patterns after stroke. This results in simplified or merged muscle sets (i.e., muscle modules or synergies) compared to non-impaired individuals and this leads to poor walking performance. However, the relations of how these neuromuscular deficits influence gait quality (e.g., symmetry or natural walking patterns) are still unclear. The objective of this exploratory study was to investigate the relations of modular neuromuscular framework and gait quality measures in chronic stroke individuals.MethodsSixteen chronic post-stroke individuals participated in this study. Full lower body three-dimensional kinematics and electromyography (EMG) were concurrently measured during overground walking at a comfortable speed. We first examined changes in gait quality measures across the number of muscle modules using linear regression model. Then, a stepwise multiple regression was used to investigate the optimal combination of the neuromuscular parameters that associates with gait quality measures.ResultsWe observed that subjects who had a lower number of muscle modules revealed reduced function (i.e., speed) and greater asymmetry in the kinematic parameters including limb length, footpath area, knee flexion/extension, and hip abduction/adduction (all p < 0.05). We also found that the combination of input variables from the modular neuromuscular control framework significantly associated with gait quality measures (average [Formula: see text]). Those variables included variability accounted for ([Formula: see text]) information from the muscle modules and area under the EMG envelope curves of the quadriceps (i.e., rectus femoris and vastus lateralis) and tibialis anterior muscles.ConclusionsThe results suggest that there exists a significant correlation between the neuromuscular control framework and the gait quality measures. This study helps to understand the underlying mechanism of disturbances in gait quality and provides insight for a more comprehensive outcome measure to assess gait impairment after stroke.
| S-EPMC8028248 | biostudies-literature
Project description:Polysomnographic sleep architecture parameters are commonly used to diagnose or evaluate treatment of sleep disorders. Polysomnography (PSG) having practical constraints, the development of wearable devices and algorithms to monitor and stage sleep is rising. Beside pure validation studies, it is necessary for a clinician to ensure that the conclusions drawn with a new generation wearable sleep scoring device are consistent to the ones of gold standard PSG, leading to similar interpretation and diagnosis. This paper reports on the performance of Somno-Art Software for the detection of differences in sleep parameters between patients suffering from obstructive sleep apnea (OSA), insomniac or major depressive disorder (MDD) compared to healthy subjects. On 244 subjects (n = 26 healthy, n = 28 OSA, n = 66 insomniacs, n = 124 MDD), sleep staging was obtained from PSG and Somno-Art analysis on synchronized electrocardiogram and actimetry signals. Mixed model analysis of variance was performed for each sleep parameter. Possible differences in sleep parameters were further assessed with Mann-Whitney U-test between the healthy subjects and each pathology group. All sleep parameters, except N1+N2, showed significant differences between the healthy and the pathology group. No significant differences were observed between Somno-Art Software and PSG, except a 3.6±2.2 min overestimation of REM sleep. No significant interaction 'group'*'technology' was observed, suggesting that the differences in pathologies are independent of the technology used. Overall, comparable differences between healthy subjects and pathology groups were observed when using Somno-Art Software or polysomnography. Somno-Art proposes an interesting valid tool as an aid for diagnosis and treatment follow-up in ambulatory settings.
| S-EPMC10588897 | biostudies-literature
Project description:(1) Background: Orbital and midface malformations occur in multiple craniofacial disorders. Depending on the deformity, surgical corrections include orbital box osteotomy (OBO), Le Fort III (LFIII), monobloc (MB), and facial bipartition (FB). The aim of this study was to determine the effect of these procedures on ocular outcomes. (2) Methods: A retrospective analysis was performed. All patients with craniofacial disorders who had previously undergone midface surgery were included. The Wilcoxon signed ranks test was used for statistical analysis. (3) Results: In total, 63 patients were included: two patients were treated by OBO, 20 by LFIII, 26 by MB, and 15 by FB. Pre-operatively, strabismus was present in 39 patients (61.9%), in whom exotropia was most common (n = 27; 42.9%), followed by esotropia (n = 11; 17.5%). Postoperatively, strabismus significantly worsened (p = 0.035) in the overall population (n = 63). Pre-operative binocular vision (n = 33) was absent in nine patients (27.3%), poor in eight (24.2%), moderate in 15 (45.5%), and good in one (3.0%). Postoperatively, binocular vision significantly improved (p < 0.001). Before surgery, the mean visual acuity (VA) in the better eye was 0.16 LogMAR (Logarithm of the Minimum Angle of Resolution), and 0.31 LogMAR in the worse eye. Furthermore, pre-operative astigmatism was present in 46 patients (73.0%) and hypermetropia in 37 patients (58.7%). No statistical difference was found for VA (n = 51; p = 0.058) postoperatively. (4) Conclusions: Midface surgery has a direct and indirect substantial effect on several ocular outcomes. This study emphasizes the importance of appropriate ophthalmological evaluation in patients with craniofacial disorders undergoing midface surgery.
| S-EPMC10253425 | biostudies-literature
Project description:We previously reported the Point A-Koji method, which uses a titanium plate to move the soft tissue Subnasale (Sn) point forward. This method improves the nasolabial angle, but it is not effective in nasal ala base depression. Various treatments for midface depression have been devised; however, each method has its own disadvantages. Therefore, we developed a minimally invasive method (A-10 surgery), in which an artificial dermis is inserted into the nasal ala base in combination with the Point A-Koji method, and performed it on a patient who has midface depression.MethodsThe patient was a 34-year-old woman with midface depression and mouth protrusion' and her Sn point was located posteriorly. We provided A-10 surgery for this patient.ResultsSix months after A-10 surgery, the following results were obtained: (1) the facial convexity increased by 3.7 degrees preoperative and postoperative surgery, (2) the soft tissue thickness at the nasal ala base increased by 2.15 mm from 7.42 mm preoperatively to 9.57 mm postoperatively, and (3) the postoperative computed tomography values of the tissue in the same area ranged from -11 to 250 Hounsfield units, suggesting that the inserted artificial dermis was established as dermal-like tissue. A-10 surgery improved the esthetic appearance of the midface.ConclusionsWith A-10 surgery, which utilizes a titanium plate as a frame, the facial morphology of the patient changed owing to autologous tissue filling. In addition to being safe and minimally invasive, A-10 surgery yielded a three-dimensional appearance of the midface.
| S-EPMC9640302 | biostudies-literature
Project description:Study objectivesAdenotonsillectomy (AT) is the treatment of choice for obstructive sleep apnea (OSA) in children with adenotonsillar hypertrophy. Severe OSA, identified by the apnea-hypopnea index (AHI), is a risk factor for surgical complications and AHI thresholds are used by surgeons to decide elective postoperative hospital admissions. The objective of this study was to identify the prevalence of surgical complications of AT in children with severe OSA and determine their association with specific parameters of polysomnography (PSG).MethodsRetrospective evaluation of respiratory and nonrespiratory complications in children undergoing AT for severe OSA was performed. Events were then compared to several individual PSG indices. PSG indices included classic parameters such as AHI, and obstructive apnea indexes (OAI) as well as gas exchange parameters including the oxygen desaturation index (ODI), lowest oxyhemoglobin saturation (lowest SpO₂), peak end-tidal CO₂ (peak ETCO₂), the percentage of the total sleep time (%TST) with ETCO₂ > 50 mmHg (%TST ETCO₂ > 50 mmHg) and oxygen saturation < 90% (%TST O₂ < 90%).ResultsA total of 158 children were identified with severe OSA. Major respiratory complications occurred in 21.5% and were only associated with the ODI (P = .014), lowest SpO₂ (P = .001) and %TST O₂ < 90% (P < .001). Minor respiratory complications occurred in 19.6% and these were not associated with any PSG parameters. Major nonrespiratory complications occurred in 4.4% and also were not associated with any PSG parameters; however, minor nonrespiratory complications occurring in 37.3%, and were associated with %TST O₂ < 90% (P < 0.001).ConclusionsPSG measures of gas exchange are strongly associated with postoperative complications of AT and are better suited for postoperative planning than classic indices such as AHI.CitationMolero-Ramirez H, Tamae Kakazu M, Baroody F, Bhattacharjee R. Polysomnography parameters assessing gas exchange best predict postoperative respiratory complications following adenotonsillectomy in children with severe OSA. J Clin Sleep Med. 2019;15(9):1251-1259.
| S-EPMC6760392 | biostudies-literature