Osteoarthritis (OA) is progressive disease characterised by cartilage degradation, subchondral bone remodelling and inflammation of the synovium. The disease is associated with obesity, mechanical load and age. However, multiple pro-inflammatory immune mediators regulate the expression of metalloproteinases, which take part in cartilage degradation. Furthermore, genetic factors also contribute to OA susceptibility. Recent studies have highlighted that epigenetic mechanisms may regulate the expression of OA-associated genes. This review aims to present the mechanisms of OA pathogenesis and summarise current evidence regarding the role of genetics and epigenetics in this process.
There is growing evidence that gallstone formation may be genetically determined. Recent studies have shown that polymorphism of genes encoding proteins involved in bile acid transport may be associated with the risk of gallstone disease. The aim of this study was to investigate the association between SLCO1B3 (rs4149117:G>T, rs7311358:A>G) and ABCC3 (rs4793665:T>C, rs11568591:G>A) genetic variants and susceptibility to cholesterol gallstone disease, as well as gallstone composition. The study included 317 patients suffering from cholelithiasis who underwent cholecystostomy and 249 controls with no evidence of stones, confirmed by ultrasound examination. There were no statistically significant differences in the distribution of studied gene polymorphisms between patients with gallstone disease and healthy controls. No significant associations were observed between studied genotypes and the content of analyzed gallstone components: total cholesterol, bilirubin, CaCO3, nor the total bile acids. There was also no association between bile acid content in gallstones and the polymorphisms studied. The results of this study suggest that polymorphisms of SLCO1B3 and ABCC3 genes are not a valuable marker of gallstone disease susceptibility and do not influence gallstone composition.
Objective Increased care of fetal and neonatal airways has led to advances in neonatal medicine. The early diagnosis and treatment of respiratory diseases require a detailed knowledge of fetal airway anatomy and development. The aim of this study was to determine the anatomical development of the thyroid and cricoid cartilages and their structural variability during fetal life. Materials and methods The study was performed on the thyroid and cricoid cartilages of 55 human fetal larynges of both sexes, between the ages of 13 and 27 weeks of intrauterine life. Numerous measurements of the thyroid and cricoid cartilages were performed. Results Correlations between the obtained results were calculated in relation to the crown-rump (C-R) length of human fetuses and to sex. The structural variability of the thyroid and cricoid cartilages of human male and female fetuses in subsequent weeks of intrauterine life was observed. In both genders a correlation between laryngeal size and fetal crown-rump length, regardless of sex, was found. The thyroid cartilage presents a sexual dimorphism. Conclusions The results of this study can be useful in the analysis of prenatal examinations, and in planning the treatment of airway emergencies.
Background Breathing-related sleep disorders cover several conditions (isolated snoring, UARS - upper airway resistance syndrome, obstructive sleep apnea, hypopnea, obesity hypoventilation syndrome) characterized by a variety of symptoms and complex etiology. The conditions can be successfully treated in most cases. Excessive body mass is a factor increasing the probability of the disorders. In most patients it is the only reason for breathing-related sleep disorders. However, it often coexists with various anatomical abnormalities in the upper airway, endocrinological diseases or genetic defects of the facial skeleton, and occurs more frequently in older people, especially men. Excessive body mass significantly affects the range and success of the treatment. Objective To analyze treatment outcome in patients treated at the otolaryngology unit for snoring and related diseases with submucosal tissue reduction within the nasal cavity, pharynx, and soft palate. Materials and methods Patients were stratified into three study groups depending on the body mass index (BMI): normal, overweight, and obese. The BMI value was compared to the severity of breathing disorders during sleep, with the incidence of other systemic diseases (e.g., hypertension, diabetes), and with treatment outcome. Results and conclusions The analysis demonstrated a significant influence of body mass on snoring, particularly in complicated and severe types of breathing disorders, such obstructive sleep apnea or hypopnea, and the obesity hypoventilation syndrome. Corrective interventions carried out to eliminate anatomical abnormalities causing obstruction of upper airways provided the best therapeutic effects in patients with normal body mass.
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