Awareness of polycystic ovary syndrome among obstetrician-gynecologists and endocrinologists in Northern Europe

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Genome-Wide Survey for Biologically Functional Pseudogenes

According to current estimates there exist about 20,000 pseudogenes in a mammalian genome. The vast majority of these are disabled and nonfunctional copies of protein-coding genes which, therefore, evolve neutrally. Recent findings that a Makorin1 pseudogene, residing on mouse Chromosome 5, is, indeed, in vivo vital and also evolutionarily preserved, encouraged us to conduct a genome-wide survey for other functional pseudogenes in human, mouse, and chimpanzee. We identify to our knowledge the first examples of conserved pseudogenes common to human and mouse, originating from one duplication predating the human–mouse species split and having evolved as pseudogenes since the species split. Functionality is one possible way to explain the apparently contradictory properties of such pseudogene pairs, i.e., high conservation and ancient origin. The hypothesis of functionality is tested by comparing expression evidence and synteny of the candidates with proper test sets. The tests suggest potential biological function. Our candidate set includes a small set of long-lived pseudogenes whose unknown potential function is retained since before the human–mouse species split, and also a larger group of primate-specific ones found from human–chimpanzee searches. Two processed sequences are notable, their conservation since the human–mouse split being as high as most protein-coding genes; one is derived from the protein Ataxin 7-like 3 (ATX7NL3), and one from the Spinocerebellar ataxia type 1 protein (ATX1). Our approach is comparative and can be applied to any pair of species. It is implemented by a semi-automated pipeline based on cross-species BLAST comparisons and maximum-likelihood phylogeny estimations. To separate pseudogenes from protein-coding genes, we use standard methods, utilizing in-frame disablements, as well as a probabilistic filter based on Ka/Ks ratios

On the quest for selective constraints shaping the expressivity of the genes casting retropseudogenes in human

<p>Abstract</p> <p>Background</p> <p>Pseudogenes, the nonfunctional homologues of functional genes are now coming to light as important resources regarding the study of human protein evolution. Processed pseudogenes arising by reverse transcription and reinsertion can provide molecular record on the dynamics and evolution of genomes. Researches on the progenitors of human processed pseudogenes delved out their highly expressed and evolutionarily conserved characters. They are reported to be short and GC-poor indicating their high efficiency for retrotransposition. In this article we focused on their high expressivity and explored the factors contributing for that and their relevance in the milieu of protein sequence evolution.</p> <p>Results</p> <p>We here, analyzed the high expressivity of these genes configuring processed or retropseudogenes by their immense connectivity in protein-protein interaction network, an inclination towards alternative splicing mechanism, a lower rate of mRNA disintegration and a slower evolutionary rate. While the unusual trend of the upraised disorder in contrast with the high expressivity of the proteins encoded by processed pseudogene ancestors is accredited by a predominance of hub-protein encoding genes, a high propensity of repeat sequence containing genes, elevated protein stability and the functional constraint to perform the transcription regulatory jobs. Linear regression analysis demonstrates mRNA decay rate and protein intrinsic disorder as the influential factors controlling the expressivity of these retropseudogene ancestors while the latter one is found to have the most significant regulatory power.</p> <p>Conclusions</p> <p>Our findings imply that, the affluence of disordered regions elevating the network attachment to be involved in important cellular assignments and the stability in transcriptional level are acting as the prevailing forces behind the high expressivity of the human genes configuring processed pseudogenes.</p

The effects of postmenopausal hormone therapy on social activity, partner relationship, and sexual life – experience from the EPHT trial

<p>Abstract</p> <p>Background</p> <p>With the exception of sexual functioning and weight, social and behavioural effects of postmenopausal hormone therapy (HT) have not been reported from trials. This paper reports such results from the EPHT-trial in Estonia.</p> <p>Methods</p> <p>A randomized trial, with a blind and non-blind sub-trial in Estonia. From 1999–2001, 1778 women were recruited. The mean follow-up was 3.6 years. Women's experiences were asked in the first and final study year by mailed questionnaires (74 and 81% response rates). Comparisons of the groups were made by cross-tabulation and logistic regression, adjusting for age.</p> <p>Results</p> <p>There were no differences between the HT and non-HT groups in regard to being employed, the extent of social involvement or marital status or opinions on aging. There was no difference in the frequency of free-time exercise, or overweight. Some of the indicators suggested less sexual inactivity, but the differences were small.</p> <p>Conclusion</p> <p>In a trial setting, postmenopausal hormone therapy did not influence work or social involvement or health behaviour.</p> <p>Trial registration</p> <p>ISRCTN35338757</p

Design indicators for better accommodation environments in hospitals: inpatients’ perceptions

This is an Author's Accepted Manuscript of an article published in Intelligent Buildings International, 2012, [© Taylor & Francis], available online at: http://www.tandfonline.com/doi/abs/10.1080/17508975.2012.701186Several studies have found an association between the physical environment and human health and wellbeing that resulted in the postulation of the idea of evidence-based and patient-centred design of healthcare facilities. The key challenge is that most of the underpinning research for the evidence base is context specific, the use of which in building design is complex, mainly because of the difficulties associated with the disaggregation of findings from the context. On the other hand, integrating patients’ perspectives requires an understanding of the relative importance of design indicators, which the existing evidence base lacks to a large extent. This research was aimed at overcoming these limitations by investigating users’ perception of the importance of key design indicators in enhancing their accommodation environments in hospitals. A 19-item structured questionnaire was used to gather inpatients' views on a 5-point scale, in two Chinese hospitals. A principal component analysis (PCA) resulted in five constructed dimensions with appropriate reliability and validity (Cronbach’s alpha=0.888). The item, design for cleanliness, was ranked as most important, closely followed by environmental and safety design indicators. The item, entertainment facilities, was ranked lowest. The indicator, pleasant exterior view had the second lowest mean score, followed by the item, ability to customise the space. Age, accommodation type and previous experience of hospitalisation accounted for statistically significant differences in perceptions of importance of various constructed design dimensions