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Previous studies suggested cervical spondylosis as a risk factor for development of obstructive sleep apnoea (OSA). We aimed to assess lumbar disc degeneration in patients with OSA and correlate the findings with symptoms and disease severity. Twenty-seven patients with OSA and 29 non-OSA controls underwent sleep studies and lumbar magnetic resonance imaging (MRI), and completed the Epworth Sleepiness Scale and the 24-item Roland‐Morris Disability Questionnaire (RMDQ) questionnaires. Plasma klotho was determined with enzyme-linked immunosorbent assay. Patients with OSA had higher number of disc bulges (4.6 ± 3.7 vs. 1.7 ± 2.5, p < 0.01) and anterior spondylophytes (2.7 ± 4.2 vs. 0.8 ± 2.1, p < 0.01), increased disc degeneration (total Pfirrmann score 16.7 ± 4.7 vs. 13.2 ± 4.1, p < 0.01) and vertebral fatty degeneration (7.8 ± 4.7 vs. 3.8 ± 3.7, p < 0.01). There was no difference in the RMDQ score (0/0–3.5/ vs. 0/0–1/, p > 0.05). Markers of OSA severity, including the oxygen desaturation index and percentage of total sleep time spent with saturation < 90% as well as plasma levels of klotho were correlated with the number of disc bulges and anterior spondylophytes (all p < 0.05). OSA is associated with lumbar spondylosis. Our study highlights the importance of lumbar imaging in patients with OSA reporting lower back pain.

Chronic inflammation induced by hypoxia during sleep is an important mechanism of microvascular damage in OSA patients. In this study, we investigated the role of the sphingosine rheostat, which has diverse inflammatory effects. Thirty-seven healthy subjects and 31 patients with OSA were recruited. We collected data on demographics and comorbidities. Plasma sphingosine-1-phosphate and ceramide antibody concentrations were measured by ELISA. The results were compared between the OSA and control groups, and the correlations between these measurements and markers of disease severity and comorbidities were explored. Ceramide antibody levels were significantly elevated in OSA patients (892.17 ng/ml) vs. controls (209.55 ng/ml). S1P levels were also significantly higher in patients with OSA (1760.0 pg/ml) than in controls (290.35 pg/ml, p < 0.001). The ceramide antibody concentration showed correlations with BMI (ρ = 0.25, p = 0.04), CRP (ρ = 0.36, p = 0.005), AHI (ρ = 0.43, p < 0.001), ODI (ρ = 0.43, p < 0.001), TST90% (ρ = 0.35, p = 0.004) and the lowest oxygen saturation (ρ =  0.37, p = 0.001) in the whole study population but not when patients with OSA were analyzed separately. The elevated ceramide antibody and sphingosine-1-phosphate concentrations in patients suffering from OSA suggests their involvement in the pathomechanism of OSA and its comorbidities.

This study aimed to analyse the thickness of the adipose tissue (AT) around the upper airways with anthropometric parameters in the prediction and pathogenesis of OSA and obstruction of the upper airways using artificial intelligence. One hundred patients were enrolled in this prospective investigation, who were divided into control (non-OSA) and mild, moderately severe, and severe OSA according to polysomnography. All participants underwent drug-induced sleep endoscopy, anthropometric measurements, and neck MRI. The statistical analyses were based on artificial intelligence. The midsagittal SAT, the parapharyngeal fat, and the midsagittal tongue fat were significantly correlated with BMI; however, no correlation with AHI was observed. Upper-airway obstruction was correctly categorised in 80% in the case of the soft palate, including parapharyngeal AT, sex, and neck circumference parameters. Oropharyngeal obstruction was correctly predicted in 77% using BMI, parapharyngeal AT, and abdominal circumferences, while tongue-based obstruction was correctly predicted in 79% using BMI. OSA could be predicted with 99% precision using anthropometric parameters and AT values from the MRI. Age, neck circumference, midsagittal and parapharyngeal tongue fat values, and BMI were the most vital parameters in the prediction. Basic anthropometric parameters and AT values based on MRI are helpful in predicting OSA and obstruction location using artificial intelligence.

Introduction: Our aim was to investigate the applicability of artificial intelligence in predicting obstructive sleep apnoea (OSA) and upper airway obstruction using ultrasound (US) measurements of subcutaneous adipose tissues (SAT) in the regions of the neck, chest and abdomen. Methods: One hundred patients were divided into mild (32), moderately severe-severe (32) OSA and non-OSA (36), according to the results of the polysomnography. These patients were examined using anthropometric measurements and US of SAT and drug-induced sleep endoscopy. Results: Using SAT US and anthropometric parameters, oropharyngeal obstruction could be predicted in 64% and tongue-based obstruction in 72%. In predicting oropharyngeal obstruction, BMI, abdominal and hip circumferences, submental SAT and SAT above the second intercostal space on the left were identified as essential parameters. Furthermore, tongue-based obstruction was predicted mainly by height, SAT measured 2 cm above the umbilicus and submental SAT. The OSA prediction was successful in 97% using the parameters mentioned above. Moreover, other parameters, such as US-based SAT, with SAT measured 2 cm above the umbilicus and both-sided SAT above the second intercostal spaces as the most important ones. Discussion: Based on our results, several categories of OSA can be predicted using artificial intelligence with high precision by using SAT and anthropometric parameters.

To examine the geometrical parameters of the tongue in obstructive sleep apnoea (OSA) based on sex, age and BMI parameters and ultrasound (US) and MRI. The presence of OSA and tongue-based obstruction can be predicted using these parameters. Of 100 patients, 64% were diagnosed with OSA according to overnight polysomnography. MRI and US devices were used to measure tongue parameters. The location of the obstruction was identified using drug-induced sleep endoscopy. Statistical analysis was performed using the quadratic discriminant analysis. Men presented higher tongue volumes and axial diameter during Müller’s maneuver (MM) of US and coronal diameter of the MRI. In women, all examined MRI parameters were significantly correlated with apnoea-hypopnea index (AHI). A stronger correlation between BMI and AHI parameters was observed in women than in men. Using our algorithm, which includes tongue parameters and anthropometric values, the presence of OSA could be predicted in 91% with US and 82% with MRI. The detection of tongue-based obstruction was successful in 89% using US and 87% using MRI, whereas tongue-based obstruction was successful in 70% using US. Using MRI and US of the tongue combined with basic anthropometric parameters, the presence of OSA and tongue-based obstruction can be identified with high precision.

Background DNA base identification is a proper and high specificity method. However, identification could be challenged in a situation where there is no database or the DNA sequence is almost identical, as in the case of monozygotic (MZ) twins. The aim of this study was to introduce a novel forensic method for distinguishing between almost identical MZ twins by means of an intraoral scanner using the 3D digital pattern of the human palate. Methods The palatal area of 64 MZ twins and 33 same-sex dizygotic (DZ) twins (DZSS) and seven opposite-sex dizygotic twins (DZOS) were scanned three times with an intraoral scanner. From the scanned data, an STL file was created and exported into the GOM Inspect® inspection software. All scans within a twin pair were superimposed on each other. The average deviation between scans of the same subject (intra-subject deviation, ISD) and between scans of the two siblings within a twin pair (intra-twin deviation, ITD) was measured. One-sided tolerance interval covering 99% of the population with 99% confidence was calculated for the ISD (upper limit) and the ITD (lower limit). Results The mean ISD of the palatal scan was 35.3 μm ± 0.78 μm. The calculated upper tolerance limit was 95 μm. The mean ITD of MZ twins (406 μm ± 15 μm) was significantly ( p  < 0.001) higher than the ISD, and it was significantly lower than the ITD of DZSS twins (594 μm ± 53 μm, p  < 0.01) and the ITD of DZOS twins (853 μm ± 202 μm, p  < 0.05). Conclusion The reproducibility of palatal intraoral scans proved to be excellent. The morphology of the palate shows differences between members of MZ twins despite their almost identical DNA, indicating that this method could be useful in forensic odontology.

Our study analyzed lymphocyte subpopulations of 32 monozygotic twins and compared the level of the catalytic reverse transcriptase protein subunit (hTERT) in T lymphocytes (Tly), helper- (Th), cytotoxic- (Tc) and regulatory T cell (Treg) subgroups. Four variables related to telomere and mitochondrial biology were simultaneously assessed, applying multi-parametric flow cytometry, TRAP-ELISA assay and qPCR standard curve method on peripheral blood mononuclear cell (PBMC) samples of genetically matched individuals. Twin data of telomerase activity (TA), hTERT protein level, telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) were analyzed for co-twin similarity. The present study has provided novel information by demonstrating very high intraclass correlation (ICC) of hTERT protein level in T lymphocytes (0.891) and in both Th (0.896), Treg (0.885) and Tc (0.798) cell subgroups. When comparing results measured from PBMCs, intraclass correlation was also high for telomere length (0.815) and considerable for mtDNA copy number (0.524), and again exceptionally high for the rate-limiting telomerase subunit, hTERT protein level (0.946). In contrast, telomerase activity showed no co-twin similarity (ICC 0). By comparing relative amounts of hTERT protein levels in different lymphocyte subgroups of twin subjects, in Treg cells significantly higher level could be detected compared to Tly, Th or Tc cell subgroups. This is the first study that simultaneously analyzed co-twin similarity in MZ twins for the above four variables and alongside assessed their relationship, whereby positive association was found between TL and mtDNAcn.

Biological functions of hyaluronic acid (HA) depend on its molecular size. High-molecular weight HA (HMW-HA) is an important component of the endothelial wall and has anti-inflammatory and antioxidant properties. Under inflammation or hypoxia, HMW-HA is degraded by hyaluronidases, such as HYAL-1 resulting in pro-inflammatory low-molecular weight fragments. Obstructive sleep apnoea (OSA) is characterised by intermittent hypoxia and systemic inflammation. Our aim was to evaluate circulating HMW-HA and HYAL-1 in OSA. We recruited 68 patients with OSA and 40 control volunteers. After full-night sleep study blood samples were taken for HMW-HA and HYAL-1 measurements. HYAL-1 levels were significantly higher in patients with OSA compared to controls (0.59/0.31–0.88/ng/mL vs. 0.31/0.31–0.58/ng/mL; p = 0.005) after adjustment for gender, age, BMI and smoking. There was a trend for reduced HMW-HA concentrations in OSA (31.63/18.11–59.25/ng/mL vs. 46.83/25.41–89.95/ng/mL; p = 0.068). Significant correlation was detected between circulating HMW-HA and apnoea-hypopnoea-index (r = − 0.195, p = 0.043), HYAL-1 and apnoea-hypopnoea-index (r = 0.30, p < 0.01) as well as oxygen desaturation index (r = 0.26, p < 0.01). Our results suggest that chronic hypoxia is associated with increased plasma HYAL-1 concentration and accelerated HMW-HA degradation. Altered hyaluronan metabolism may be involved in the inflammatory cascade potentially leading to endothelial dysfunction in OSA.

Interstitial lung disease (ILD) is the leading cause of mortality in systemic sclerosis (SSc). Progressive pulmonary fibrosis (PPF) is defined as progression in 2 domains including clinical, radiological or lung-function parameters. Our aim was to assess predictors of functional decline in SSc-ILD patients and compare disease behavior to that in idiopathic pulmonary fibrosis (IPF) patients. Patients with normal forced vital capacity (FVC > 80% predicted; SSc-ILD: n = 31; IPF: n = 53) were followed for at least 1 year. Predictors of functional decline including clinical symptoms, comorbidities, lung-function values, high-resolution CT pattern, and treatment data were analyzed. SSc-ILD patents were significantly younger (59.8 ± 13.1) and more often women (93 %) than IPF patients. The median yearly FVC decline was similar in both groups (SSc-ILD = −67.5 and IPF = −65.3 mL/year). A total of 11 SSc-ILD patients met the PPF criteria for functional deterioration, presenting an FVC decline of −153.9 mL/year. Cough and pulmonary hypertension were significant prognostic factors for SSc-ILD functional progression. SSc-ILD patients with normal initial spirometry presenting with cough and PH are at higher risk for showing progressive functional decline.