Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data

Background: Transposable elements (TEs) are DNA sequences able to mobilize themselves and to increase their copy-number in the host genome. In the past, they have been considered mainly selfish DNA without evident functions. Nevertheless, currently they are believed to have been extensively involved in the evolution of primate genomes, especially from a regulatory perspective. Due to their recent activity they are also one of the primary sources of structural variants (SVs) in the human genome. By taking advantage of sequencing technologies and bioinformatics tools, recent surveys uncovered specific TE structural variants (TEVs) that gave rise to polymorphisms in human populations. When combined with RNA-seq data this information provides the opportunity to study the potential impact of TEs on gene expression in human. Results: In this work, we assessed the effects of the presence of specific TEs in cis on the expression of flanking genes by producing associations between polymorphic TEs and flanking gene expression levels in human lymphoblastoid cell lines. By using public data from the 1000 Genome Project and the Geuvadis consortium, we exploited an expression quantitative trait loci (eQTL) approach integrated with additional bioinformatics data mining analyses. We uncovered human loci enriched for common, less common and rare TEVs and identified 323 significant TEV-cis-eQTL associations. SINE-R/VNTR/Alus (SVAs) resulted the TE class with the strongest effects on gene expression. We also unveiled differential functional enrichments on genes associated to TEVs, genes associated to TEV-cis-eQTLs and genes associated to the genomic regions mostly enriched in TEV-cis-eQTLs highlighting, at multiple levels, the impact of TEVs on the host genome. Finally, we also identified polymorphic TEs putatively embedded in transcriptional units, proposing a novel mechanism in which TEVs may mediate individual-specific traits. Conclusion: We contributed to unveiling the effect of polymorphic TEs on transcription in lymphoblastoid cell lines

Cumulative radiation exposure during thoracic endovascular aneurysm repair and subsequent follow-up

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Examination and measurement of coping among adolescents with spinal cord injury

Objectives: To describe coping strategy use in adolescents with spinal cord injury (SCI), to explore the underlying factor structure of a measure of coping among adolescents with SCI and to assess relationships between coping and psychosocial outcomes. Setting: Multiple pediatric SCI centers in the United States. Methods: One hundred and eighty-two participants aged 13–17 years who experienced an SCI completed measures including the Kidcope, Children’s Depression Inventory, Revised Children’s Manifest Anxiety Scale and the Pediatric Quality of Life Inventory. Results: Participants reported that cognitive restructuring and resignation are the most used coping strategies, whereas social support, emotional regulation (calming) and cognitive restructuring are the most effective coping strategies. An exploratory factor analysis revealed that a three-factor solution provided the most parsimonious model for the relationships between the different coping strategies. However, only one of the three factors had acceptable internal consistency. This factor comprised escape-oriented coping strategies or an avoidant approach to coping with the sequelae of SCI. After controlling for demographic/injury-related factors, higher scores on the escape-oriented factor were associated with the lower quality of life and higher levels of depression and anxiety symptomatology. Conclusion: Escape-oriented coping is associated with maladaptive psychosocial outcomes in adolescents with SCI. These adolescents report that active coping strategies are most effective in reducing SCI-related distress. Coping strategy use may mediate psychosocial outcomes in adolescents with SCI and represent an intervention target in adolescents who overly rely on escape-oriented coping

Minimally invasive mitral valve surgery: State-of-the-art and our experience

The minimally invasive approach is becoming the standard-of-care for surgery of the mitral valve. As any less invasive strategy, it entails an increased surgical complexity. Standard-of-care mitral repair using the totally videoscopic approach is indeed reproducible; however, few specific data on patients with complex mitral valve disease are available in the published literature. The purpose of the present paper is to provide an overview of the current state-of-the-art in minimally invasive cardiac surgery, and a summary of recent evidence on the topic, with particular regard to the surgical techniques and comparisons with conventional surgery. The experience of the GVM Care and Research network in the field is also briefly reported

Raman shifts in MBE‐grown SixGe1 − x − ySny alloys with large Si content

We examine the Raman shift in silicon–germanium–tin alloys with high silicon content grown on a germanium virtual substrate by molecular beam epitaxy. The Raman shifts of the three most prominent modes, Si–Si, Si–Ge, and Ge–Ge, are measured and compared with results in previous literature. We analyze and fit the dependence of the three modes on the composition and strain of the semiconductor alloys. We also demonstrate the calculation of the composition and strain of SixGe1 − x − ySny from the Raman shifts alone, based on the fitted relationships. Our analysis extends previous results to samples lattice matched on Ge and with higher Si content than in prior comprehensive Raman analyses, thus making Raman measurements as a local, fast, and nondestructive characterization technique accessible for a wider compositional range of these ternary alloys for silicon-based photonic and microelectronic devices.Deutsche Forschungsgemeinschaft http://dx.doi.org/10.13039/501100001659Peer Reviewe

Ex vivo effect of vascular wall stromal cells secretome on enteric ganglia

BACKGROUND Mesenchymal stromal cell (MSC)-based therapy is currently under study to treat inflammatory bowel diseases. MSC bioactive products could represent a valid alternative to overcome issues associated with systemic whole-cell therapies. However, MSC anti-inflammatory mechanisms differ between rodents and humans, impairing the reliability of preclinical models. AIM To evaluate the effect of conditioned medium (CM) derived from porcine vascular wall MSCs (pVW-MSCs) on survival and differentiation of porcine and Guinea pig enteric ganglia exposed to lipopolysaccharide (LPS). METHODS Primary cultures of enteric ganglia were obtained by mechanic and enzymatic digestion of ileum resections from Guinea pigs (Cavia porcellus) (GPEG) and pigs (Suus scrofa) (PEG). pVW-MSCs were derived by enzymatic digestion from vascular wall resections of porcine aorta and tested by immunoflowcytometry for MSC immune profile. Enteric ganglia were treated with increasing concentrations of LPS, CM derived by pVW-MSCs or a combination of CM and LPS 1 \u3bcg/mL. Cell count and morphometric analysis of HuD positive neurons and glial fibrillary acidic protein positive glial cells were performed by immunofluorecent staining of cultured ganglia. RESULTS PEG showed a higher number of neurons compared to GPEG. Overall, CM exerted a protective role on LPS-treated enteric ganglia. CM in combination with LPS increased the number of glial cells per ganglion in both cultures evoking glial cells differentiation in porcine cultures. CONCLUSION These findings suggest an immunomodulating activity of pVW-MSCs mediators on the enteric nervous system in inflammatory conditions

Patterned tungsten disulfide/graphene heterostructures for efficient multifunctional optoelectronic devices

A patterned-growth, scalable fabrication strategy allows photodetectors with good electrical properties that show fast response with red light and persistent photocurrent with blue light

Analysis of Risk Factors of Oral Cancer and Periodontitis from a Sex- and Gender-Related Perspective: Gender Dentistry

Gender-specific medicine studies how sexual biology and gender-related cultural and behavioral differences may influence a person's health and considers the differences in clinical features, prevention, therapies, prognosis, and psycho-social aspects of diseases with different impacts on women and men. The present work summarizes the main differential impact each risk factor for oral cancer and periodontitis has according to biological sex- and gender-oriented differences. It resulted in differences in epidemiology and the weight of various healthy determinants that may influence the incidence and prognosis of oral cancer and periodontitis. It is desirable to change the methodology of scientific studies with a higher focus on the weight that sexual variables may have on the well-being or the probability of getting ill of each person, thus promoting the development and diffusion of personalized gender dentistry

Congenital adrenal hyperplasia. Role of dentist in early diagnosis

Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by an impairment of steroid synthesis due to an altered production of 21-hydroxylase enzyme. Corticoid hormones are involved in the development and functioning of many organs. The aim of the present study was to review the international literature to collect data regarding oral manifestations of CAH. A review of the literature describing oral features of patients affected by CAH was performed using electronic databases (PubMed and Scopus). The data about number of patients, form of CAH, and oral findings were extracted and analyzed. Seven studies were included in the final analysis. The principal findings reported regarded an advanced dental development observed in patients with CAH. One paper reported amelogenesis imperfecta and periodontal issues. The dentist could be the first specialist involved in the CAH syndrome diagnosis, identifying the characteristic features described above, especially for the classical simple virilizing and non-classical form