Adv Exp Med Biol
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The expression of X-linked genes is equalized between males and females in mammalian species through X-Chromosome inactivation (XCI). Every cell in a female mammalian embryo randomly chooses one X Chromosome for epigenetic silencing at the 8-16 cell stage, resulting in a Gaussian distribution of XCI ratios with a peak at 50:50. At the tail extremes of this distribution, X-linked recessive mutations can manifest in disease in female carriers if the mutant allele is disproportionately active. ⋯ These studies are limited by small cohorts and the relative inaccessibility of retinal tissue for genetic and epigenetic analysis. Although blood has been used as a proxy for other tissues in determining XCI ratios, blood XCI skews with age out of proportion to other tissues and may not accurately reflect retinal XCI ratios. Future investigations in determining retinal XCI ratios and the contribution of XCI to phenotype could potentially impact prognosis for female carriers of X-linked retinal disease.
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The literature lacks reports on the role played by the Environmental domain of quality of life (QoL) in care for patients with chronic respiratory diseases. Such information has a high potential for implementation in modern medicine based on a 'tailor-made' holistic healthcare model. ⋯ The greatest contribution to a high value of QoL in the Environmental domain among patients with chronic respiratory diseases was made by the coexistence of high QoL levels in other domains and in satisfaction with QoL. Programs for preventing a decline in QoL in the Environmental domain should include patients with low scores for the above variables as well as those with a low level of education, those who have not shown an improvement in their psychological well-being in the past 12 months, those with a low level of positive mental attitudes or healthy eating habits, a low Camberwell index, and low levels of overall pro-health behavior.
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Since mass spectrometry was introduced as the core technology for large-scale analysis of the proteome, the speed of data acquisition, dynamic ranges of measurements, and data quality are continuously improving. These improvements are triggered by regular launches of new methodologies and instruments.
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Endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA) had an enormous impact on the current advancement in diagnostic bronchoscopy. The aims of the present study were: (1) to evaluate the added value of EBUS-TBNA to routine diagnostic bronchoscopy performed in patients with mediastinal lymph node enlargement and (2) to identify factors that affect the diagnostic yield of EBUS-TBNA. We retrospectively analyzed 712 EBUS-TBNA procedures out of the 4081 bronchoscopies performed in the years 2009-2014. ⋯ We conclude that EBUS-TBNA is a valuable diagnostic method in an unselected group of patients with mediastinal lymph node enlargement. The percentage of positive EBUS-TBNA diagnoses is related to lymph node dimensions. The overall efficacy of EBUS-TBNA improves with increasing years of experience.
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Near-infrared spectroscopy (NIRS) is a widely used noninvasive method for measuring human brain activation based on the cerebral haemodynamic response. However, systemic changes can influence the signal's parameters. Our study aimed to investigate the relationships between NIRS signals and skin blood flow (SBF) or blood pressure during dynamic movement. ⋯ The correlation coefficients for O2Hb and MAP during warm-up, 30 % VO2peak, and 50 % VO2peak were 0.725 (P < 0.01), 0.472 (P < 0.01), and 0.939 (P < 0.01), respectively. Changes in the state of the cardiovascular system influenced O2Hb signals positively during low and moderate-intensity exercise, whereas a negative relationship was observed during high-intensity exercise. These results suggest that the relationship between the O2Hb signal and systemic changes is affected by exercise intensity.