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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. [ABSTRACT FROM AUTHOR]

Simple Summary: Obstructive sleep apnoea (OSA) is an underdiagnosed disorder from which many patients are suffering, and may lead to severe complications. The adipose tissue near the upper airways is essential in upper-airway collapses and OSA severity. The present investigation aimed to determine the correlations between upper-airway adipose tissue MRI parameters and OSA, using artificial intelligence to analyse the pathophysiology of OSA and predict obstruction location. Including anthropometric and MRI adipose tissue parameters, OSA and upper-airway obstruction can be predicted with high precision. Artificial intelligence can effectively be used in OSA diagnostics as it can analyse non-linear correlations; thus, it can be helpful for undiagnosed OSA cases. 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. [ABSTRACT FROM AUTHOR]

Simple Summary: Although several methods are used to diagnose obstructive sleep apnoea (OSA), the disorder is still underdiagnosed, leading to public healthcare problems. The main aim of the present study was to analyse the role of artificial intelligence in OSA diagnostics and obstruction localisation and, moreover, the role of subcutaneous adipose tissue in OSA pathophysiology. The significance of the present investigation is that using US in OSA diagnostics and obstruction location, an additional opportunity besides standard procedures (i.e., drug-induced sleep endoscopy or polygraphy) is presented, which is vital due to the high number of undiagnosed cases. Applying the algorithm, including artificial intelligence, the presence of obstructions and its localisation, can be determined with high precision. This can be essential in therapy planning or preoperative patient preparation. 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. [ABSTRACT FROM AUTHOR]

Idiopathic pulmonary fibrosis (IPF) is a chronic progressive disease lacking a definite etiology, characterized by the nonspecific symptoms of dyspnea and dry cough. Due to its poor prognosis, imaging techniques play an essential role in diagnosing and managing IPF. High resolution computed tomography (HRCT) has been shown to be the most sensitive modality for the diagnosis of pulmonary fibrosis. It is the primary imaging modality used for the assessment and follow-up of patients with IPF. Other not commonly used imaging methods are under research, such as ultrasound, magnetic resonance imaging and positron emission tomography-computed tomography are alternative imaging techniques. This literature review aims to provide a brief overview of the imaging of IPF-related alterations. [ABSTRACT FROM AUTHOR]

Most previous research found that within-family resemblance on social outcomes and intelligence is mostly due to genetic factors with a limited role of the shared environment, with the exception of educational attainment. Hypotheses about a gene-environment interaction with SES, with a presumably smaller role of genetic factors in families with low social status, have been only partially confirmed. However, these results do not necessarily generalize to all societies, and data from Central or Eastern European countries is currently deficient. In the current work we replicate using data from the Hungarian Twin Registry that intelligence, income, and educational attainment are substantially heritable, with limited role of the shared environment. In contrast to studies in Anglo-Saxon or Western European countries, we found an influence of the shared environment on standardized high school test scores, especially history. Both genetic and shared environmental (but not nonshared environmental) correlations were substantial, in line with generalist genes and shared environments but specific nonshared environmental effects. The results show that the heritability of social traits is observable in Central/Eastern Europe, but they highlight a potentially problematic aspect of Hungarian high school final tests, as students' family of origin appears to be a potent determinant of grades. • Central/Eastern European societies are unique but sociogenomic studies are rare. • Twin study of intelligence, income, years in education and high school final exam grades • Intelligence, income, years education and mathematics grades substantially heritable • Shared environmental effects on finals grades in humanities [ABSTRACT FROM AUTHOR]

Introduction: Recent experimental and population studies have highlighted the existence of telomere-mitochondria interplay. Besides studies revealing the molecular mechanisms underlying the associations of telomere defects and mitochondrial functions, investigations of mitochondrial DNA copy number (mtDNAcn) and telomere length (TL) in healthy and disease phenotypes have likewise begun, with the aim of gaining more insights about their relationship in humans.Material and Methods: A total of 142 asymptomatic adult twins, comprising 96 monozygotic (MZ) and 46 dizygotic (DZ) twins (mean age: 50.54 ±15.43 years), members of the Hungarian Twin Registry, were included in the analysis. Applying the qPCR standard curve method, we investigated the relationship of mtDNA copy number, telomere length and clinical data, besides assessing co-twin similarities of MZ and DZ twins for their mtDNAcn and TL measures.Results: We found that twins were similar in their intraclass correlation coefficients irrespective of zygosity, suggesting a possibly more important role of common (shared) environmental factors compared to non-shared (unique) environmental and to a smaller degree also individual genetic influences. We confirmed a significant positive association between mtDNAcn and TL (r = 0.28, p < 0.01) in age- and sex-corrected analysis. Following bivariate estimates and correction with significant predictors, the independent positive associations were further verified.Conclusions: Our results extend the until now modest number of studies investigating mtDNAcn and TL simultaneously in humans. In addition, we are the first to examine the relationship between mtDNAcn and telomere length in MZ and DZ twin subjects. [ABSTRACT FROM AUTHOR]

The klotho protein is secreted primarily by the kidneys. It is responsible for phosphate homeostasis and has an anti-aging, anti-inflammatory, and anti-oxidative stress role. Obstructive sleep apnea (OSA) is associated with an enhanced systemic inflammation and oxidative stress, but mechanisms that regulate these processes are poorly understood. The aim of the study was to investigate the plasma levels of klotho in OSA. Twenty-one previously untreated patients with OSA (56 ± 13 years, 12 males) and 41 non-OSA control volunteers (48 ± 16 years, 8 males) participated in the study. Medical history has been taken; participants filled out the Epworth Sleepiness Scale. C-reactive protein and renal function, glucose and lipid profile measurements were performed in sera; klotho was determined in citrate-treated plasma samples. Levels of plasma klotho were decreased in OSA (519.1 ± 164.9 pg/mL) versus controls (700.8 ± 431.4 pg/mL, p = 0.02). Reduced klotho concentrations were associated with markers of overnight hypoxemia determined with O2 desaturation index (r = -0.31, p = 0.01), percentage of sleep time spent with saturation <90% (r = -0.41, p < 0.01), and minimal saturation during sleep (r = 0.33, p = 0.01). Interestingly, there was no relationship with apnea-hypopnea index, total sleep time, or arousal index (all p > 0.05). Significant association was also found between low plasma klotho levels and the presence of hypertension (p < 0.05). Our results suggest that chronic intermittent hypoxia reduces the levels of klotho in OSA, which may contribute to the development of hypertension. Decreased klotho levels may play a role in enhanced systemic inflammation in OSA and may be a future target for drug development. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

We sought to assess the inheritance of left ventricular (LV) function using speckle-tracking echocardiography and the impact of hypertension on modifying the genetically determined pattern of contraction in a population of twins. We recruited 92 Caucasian twin pairs, including 74 hypertensive (HTN) siblings. Beyond standard echocardiographic protocol, a speckle-tracking analysis was performed, including global longitudinal strain (GLS). Systolic function, as assessed by ejection fraction, showed moderate heritability (61%); however, GLS showed higher and dominant heritability (75%). Heterogeneity models revealed that there were no differences between the HTN and non-HTN subjects regarding the heritability of GLS. However, the heritability estimates of diastolic function parameters, including early diastolic strain rate, were low. LV systolic biomechanics is highly heritable. GLS shows dominant heritability, despite the presence of early-stage hypertensive heart disease. Early diastolic parameters are rather determined by environmental factors. These findings suggest the presence of a genetic framework that conserves systolic function despite the expression of diastolic dysfunction and may underlie the phenotypic progression towards heart failure with preserved ejection fraction. [ABSTRACT FROM AUTHOR]