Intermittent hypoxia is a key factor in inducing chronic systemic inflammation in obstructive sleep apnea (OSA), providing the molecular substrate for the development of a range of associated diseases Show more
Intermittent hypoxia is a key factor in inducing chronic systemic inflammation in obstructive sleep apnea (OSA), providing the molecular substrate for the development of a range of associated diseases. Variations in blood oxygen levels are known to cause epigenetic changes, including modulation of non-coding RNAs. We sought to investigate whether selected hypoxia-associated non-coding RNAs, i.e. miR-210-3p, miR-139-3p, MALAT1, and BACE1-AS, could be modulated by ventilatory therapy with continuous positive airway pressure (CPAP) in patients with moderate to severe OSA. Their relationships with respiratory indices was also evaluated. Peripheral blood was collected from 68 patients with OSA before (pre-CPAP group) and after a 6-month treatment with CPAP (post-CPAP group). Circulating microRNAs and long non-coding RNAs levels were measured by real-time qPCR. Respiratory indices during sleep were evaluated by polysomnography. Following CPAP, levels of miR-210-3p, MALAT1, and BACE1-AS decreased while those of miR-139-3p increased (P<0.05 for all). Correlations between non-coding RNAs and ventilatory indices before CPAP, particularly time below 90 % of oxygen saturation during sleep, were statistically significant (P<0.05 for miR-210-3p, MALAT1, and miR-139-3p). Interestingly, all correlations were abolished by ventilation therapy. We conclude that CPAP therapy can modulate hypoxia-associated non-coding RNAs by restoring adequate blood oxygen levels, with potential effects on target gene expression. We speculate that non-coding RNAs may play a role in the development of OSA-related disorders such as cancer and cognitive diseases. Show less
Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. Show more
Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone. These lesions may persist, be asymptomatic during childhood, and may increase in number and size until growth plates close. Therefore, diagnosis of HMO in children and young people can be challenging; while short stature can be more evident at the onset of puberty, asymptomatic ostheocondromas can progress into different degrees of orthopedic deformity. Moreover, multiple complications may arise due to the presence of osteochondromas, including tendon and compression muscle pain, neurovascular disorders, obstetric problems, scoliosis and malignant transformation into secondary peripheral chondrosarcoma in adulthood. We report the case of a girl admitted to our Institute for growth delay. While laboratory tests, including growth hormone stimulation test, were normal, left hand X-ray revealed multiple osteochondromas, suggestive for HMO. The genetic test for EXT1 and EXT2 genes confirmed the radiological diagnosis, with a mutation inherited from the mother who displayed the same radiological abnormalities along with recurrent limb pain episodes. HMO is a genetic condition whose diagnosis can be challenging, especially in females. Every pediatricians should consider a skeletal dysplasia in case of unexplained growth delay and a skeletal survey might be fundamental in reaching a diagnosis. Show less