50 research outputs found
Deletion Screening and Point Mutation Analysis in Regions of the Duchenne/Becker Muscular Dystrophy Gene
No full textDuchenne muscular dystrophy (DMD) is the commonest dystrophy with a birth incidence of one in 3000-3500 males, and approximately one third of all cases result from a new mutation. Affected males present with progressive muscle weakness and die as a result of respiratory or cardiac involvement in their late teens or early twenties. Becker muscular dystrophy (BMD) is a mild variety of the disease, and the most useful criterion for differentiating the two types is the age when patients become wheelchair bound. The gene is located on Xp21, and consists of more than 65 exons encoding a protein 3685 amino acids long, named dystrophin. About 65% of affected boys have a small submicroscopic gene deletion, heterogeneous in both the specific region and number of exons missing, that can be detected by Southern blot analysis using cDNA probes, and/or by sequence amplification with the polymerase chain reaction. Partial gene duplication accounts for the mutation in about 6% of the patients, while in the remainder point mutations are suspected An aim of this project was to screen DMD/BMD patients for deletions in exons 30 to 47 of the dystrophin gene covered by cDNA probe 5b-7, on Bglll digested DNA, and at the 3' end of the gene using the restriction enzymes Hind III and Bgl II in combination with cDNA probes 9, 10 and 11-14. Seventeen DMD/BMD patients were studied with cDNA 5b-7 and one deletion was detected having the distal end at exon 44 while the proximal end was in exon 20, in the region of cDNA probe 4-5a. Five cDNA deletions were detected having both end-points in the distal part of (lie dystrophin gene in a panel of thirty-six DMD/BMD affected males showing no deletion or duplication with the rest of the cDNA probes. Also, two cases of deletions which started in the region of cDNA 8 were identified to extend in the region of cDNA 9, with one of the two having the 3' end into the region of cDNA 10. No deletions were found with cDNA 11-14. Taking advantage of the different size of deletions detected, some of the Bgl II genomic fragments were related to Hind III genomic fragments of known orientation, and the order of the Hind III fragments in the region of cDNA 10 was rearranged. Also, the correlation between deletion and phenotype was examined and found to fit the reading-frame model proposed to explain the clinical difference in severity between DMD and BMD patients. For diagnostic purposes the detection of the molecular pathology of the disease can confirm the diagnosis of DMD/BMD in sporadic cases and offer direct accurate prenatal diagnosis in the family without the necessity for linkage analysis that requires DNA samples from key relatives. As Southern analysis takes five to ten days for results to be obtained assessment of the value and reliability of the polymerase chain reaction in performing deletion detection screening at multiple sites simultaneously was the next aim of the present study. Simultaneous amplification by PCR of exons 4, 8, 12, 17, 19, 44, 45, 48 and 51 of the dystrophin gene in 118 DMD/BMD DNA samples identified a mutation in 48. 3% of the patients and detected 86% of the deletions previously revealed by Southern analysis. Discrepancies were not found between the results obtained by the two methods of analysis. On the contrary, the problem of weak hybridisation was circumvented in two cases allowing the accurate mapping of the deletion end-points. Postnatal-detection screening was also performed in two patients and both results were confirmed by Southern analysis. The ability of PCR to amplify DNA fragments from small starting amounts of not necessarily good quality DNA permitted the amplification of DNA extracted from haematoxylin and eosin stained tissue sections, as well as the detection of a deletion in an individual whose DNA failed to produce detectable signal by Southern analysis because of degradation. Speed, sensitivity, specificity and efficiency characterise the method of multiplex amplification with the polymerase chain reaction, and make it ideal in the analysis of mutations in routine clinical practice as an initial screen to detect the molecular pathology of the disease. The final aim of this project was to scan regions of the DMD/BMD gene in affected males whose molecular pathology was still unknown, for new polymorphic sites or mutations that may account for the development of the disease and to compare and assess the different methodologies for mutational screening. (Abstract shortened by ProQuest.)
Liquid Biopsy in Gastrointestinal Cancers: How Close Are We to Reaching the Clinic?
No full textAn editorial published in Cancers as part of the Special Issue Liquid Biopsy in Gastrointestinal Cancers.This research was funded by the European Union's Horizon 2020 research and innovation program under grant agreement No 857381/VISION, the Spanish Biomedical Research Network in Cancer CIBERONC (CB16/12/00446), from the Slovak Research and Development Agency (APVV-21-0197, APVV-20-0143) and TRANSCAN-2 program ERA-NET JTC 2017 "Translational research on rare cancers" within the project NExT
The Metastatic Process through the Eyes of Epigenetic Regulation: A Promising Horizon for Cancer Therapy
No full textGenetic aberrations, including chromosomal rearrangements, loss or amplification of DNA, and point mutations, are major elements of cancer development [...
Cybersickness in Virtual Reality: The Role of Individual Differences, Its Effects on Cognitive Functions and Motor Skills, and Intensity Differences during and after Immersion
No full textfirst_pagesettingsOrder Article Reprints
Open AccessArticle
Cybersickness in Virtual Reality: The Role of Individual Differences, Its Effects on Cognitive Functions and Motor Skills, and Intensity Differences during and after Immersion
by Panagiotis Kourtesis 1,2,3,*ORCID,Agapi Papadopoulou 1 andPetros Roussos 1ORCID
1
Department of Psychology, National and Kapodistrian University of Athens, 15772 Athens, Greece
2
Department of Psychology, The American College of Greece, 15342 Athens, Greece
3
Department of Psychology, University of Edinburgh, EH8 9YL Edinburgh, UK
*
Author to whom correspondence should be addressed.
Virtual Worlds 2024, 3(1), 62-93; https://doi.org/10.3390/virtualworlds3010004
Submission received: 26 October 2023 / Revised: 9 January 2024 / Accepted: 26 January 2024 / Published: 2 February 2024
Downloadkeyboard_arrow_down Browse Figures Versions Notes
Abstract
Background: Given that VR is used in multiple domains, understanding the effects of cybersickness on human cognition and motor skills and the factors contributing to cybersickness is becoming increasing important. This study aimed to explore the predictors of cybersickness and its interplay with cognitive and motor skills. Methods: 30 participants, 20–45 years old, completed the MSSQ and the CSQ-VR, and were immersed in VR. During immersion, they were exposed to a roller coaster ride. Before and after the ride, participants responded to the CSQ-VR and performed VR-based cognitive and psychomotor tasks. After the VR session, participants completed the CSQ-VR again. Results: Motion sickness susceptibility, during adulthood, was the most prominent predictor of cybersickness. Pupil dilation emerged as a significant predictor of cybersickness. Experience with videogaming was a significant predictor of cybersickness and cognitive/motor functions. Cybersickness negatively affected visuospatial working memory and psychomotor skills. Overall the intensity of cybersickness’s nausea and vestibular symptoms significantly decreased after removing the VR headset. Conclusions: In order of importance, motion sickness susceptibility and gaming experience are significant predictors of cybersickness. Pupil dilation appears to be a cybersickness biomarker. Cybersickness affects visuospatial working memory and psychomotor skills. Concerning user experience, cybersickness and its effects on performance should be examined during and not after immersion
Coal Regions in transition:: Reinventing the carbon economy
No full textThe urgent need to decarbonize the energy sector marks the beginning of a post-fossil fuel era, leading among others to a significant decrease in coal production and a corresponding shift towards energy from renewables. This transition will bring changes spatially but also socio-economically and will affect primarily coal mining communities as their primary economic driver gradually declines. This thesis sets out to investigate the coal phase-out as happening in Germany, the Czech Republic, and Poland - Europe’s ‘coal heartland’. It focuses on the spatial aspect of it, a twofold challenge, that stems from the two contradictory conditions: the abundance of vacant land (land supply) that results from the coal phase-out and depopulating-shrinking trends in these coal regions and the spatial pressure (land demand) that the emerging deployment of renewables triggers in combination with possible unregulated land takeovers. The thesis conceives the coal regions as a systemic zone and proposes a shift to another form of the carbon economy, one based on forestry. It builds upon a timeline of actions starting from the phase-out of coal and shapes a narrative for a transition to a more sustainable and lower-carbon-intensive economy in the affected areas. The project approach this with a multiscalar perspective, zooming gradually to Lusatia, a historic region marked by many years of intensive lignite mining, an area in which four lignite extraction sites are still operating, and proposes a systemic approach to how another form of use in this cluster of mines could affect the ongoing depopulation in the area and care for the damaged and exhausted environment by fostering economic growth through sustainable timber harvesting and the creation of valuable ecosystem services that will trigger biodiversity growth. Last it looks at the area around Cottbus, where a former mine, and a currently active one, Jänschwalde mine, have shaped a unique landscape, surrounded by the characteristic pine forests of the region, and small scattered settlements. Spatial elements and their synergies are unraveled that facilitate sustainable wood production, the energy transition, and the care of natural ecosystems. The project works with a timeline spanning from 2025 until 2090, during which the area transforms as forests take over and grow while at the same time, several settlements and infrastructures decommission, depopulate, shrink and retreat. The final outcome inspires an alternative understanding of the coal regions, one described by a ‘spatial growth-retreat dynamic’ that builds upon the shrinking built environment and expresses itself with constant fluxes of carbon storage and carbon releases.Architecture, Urbanism and Building Sciences | Transitional Territorie
The spectrum of myocardial homeostasis mechanisms in the settings of cardiac surgery procedures (Review)
No full textA machine-learning approach for pancreatic neoplasia classification based on plasma extracellular vesicles
No full textIntroduction: Pancreatic cancer (PC) is a lethal disease developing from either exocrine or endocrine cells. Efforts to assist early diagnosis focus on liquid biopsy methods, and especially on the detection of Extracellular Vesicles (EVs) secreted from cancer cells in their microenvironment and accumulated in systemic circulation. Multiple studies explore how EVs size, surface biomarkers or content can determine their unique role and function in the recipient cell’s gene expression, metabolism and behavior affecting cancer development. This study aimed to develop a machine learning-driven (ML) pipeline utilizing clinical variables and EV-based features to predict the presence of pancreatic tumors of different nature (exocrine/endocrine) in patients’ plasma compared to patients with benign lesions or age-matched non-oncological patients. Methods: All available plasma samples (N=126) and variables were collected prior to surgery. EVs were detected and characterized by flow cytometry-immunostaining. Data including size and a unique set of biomarkers (CD45, CD63 and EphA2) were combined with hematological/biochemical data and processed under two use cases, each formulated as a 3-class classification problem for patient risk stratification. The first use case aimed at classifying patients as with benign lesions or exocrine/endocrine neoplasms. The second use case aimed to distinguish patients with exocrine/endocrine neoplasms from non-oncological patients. Various ML methods were applied, including Logistic Regression, Random Forest, Support Vector Machines, and Extreme Gradient Boosting. Evaluation metrics, as area under the receiver operating characteristic curve (AUC-ROC), were computed, and Shapley values were utilized to determine features with the greatest impact on the discrimination of outcome groups. Results: Analyses identified hematological and biochemical features, among significant predictors. Models demonstrated substantial accuracy and AUC-ROC values based on plasma EVs subpopulations, which scored over 0.90 in accuracy of the Random Forest and XGBoost algorithms, presenting 0.96 +/- 0.03 accuracy in the first use case and 0.93 +/- 0.04 in the second. Discussion: By leveraging advanced analytical ML-driven approaches and integrating diverse data types, this study achieved significant accuracy, assisting patient’s risk estimation and supporting the feasibility for early detection of pancreatic cancer. Going beyond currently used biomarkers such as CEA, or CA19.9, EV-based features represent an added value offering increased diagnostic capacity. Copyright © 2025 Angelioudaki, Iosif, Kourou, Tzingounis, Kigka, Skreka, Costopoulos, Memos, Kataki, Konstadoulakis and Fotiadis
SCRAPYARDS UNITED: Nesting local scrap metal cycles in a national network - ZH2050
No full textSteel is a widely used and very circular material, it can be recycled endlessly but that consumes a lot of energy, therefore, it is one of the most polluting industries in the world. Only 2% of this pollution is caused by production, the other 98% is caused by transportation during the production and recycling process. Half of the pollution caused by transport is by export en import of scrap metal from and to the port of Rotterdam to Asian and African countries, this also creates geo-dependency on non-EU countries for essential materials. We will use research through design approach, quantitative (LISA data and Openstreetmap data) and qualitative methods such as research on the steel cycle, scrapyard activities, stakeholders, and social and spatial environment. The main objective is to reduce the logistic effort by closing loops more locally by creating a network of bigger and smaller hubs and reinstalling makers- and manufacturing industries around the hubs in a symbiotic relationship. Hereby we aim to move metal recycling higher up in the R-ladder of circularity. Different socio-spatial, techno-economic and governmental strategies should make scrapyards more attractive and interesting locations and intertwine them more into the urban tissue. Hereford, they should attract makers- and manufacturing industries around the scrapyards to form a symbiosis in the use of metal and scrap metal. Simultaneously, this increases dutch manufacturing and increases the local economy and decreases geo-dependency. The end of the report provides a set of strategies that can be applied to scrapyards throughout the country to improve the locations and the network between them. This project can form a precedent, both for other bigger industrial or port cities in Europe, as well as for different material flows.AR2U086 R&D Studio – Spatial Strategies for the Global MetropolisArchitecture, Urbanism and Building Sciences | Urbanis
Music and Art in School Social Work with Socially Isolated and Marginalized Students: A Participatory Action Research Enhancing the Educational Inclusion During COVID-19.
No full textThis article presents and discusses a Participatory Action Research (PAR) project, which was conducted shortly after the outbreak of COVID-19 (March 2020) by the first author (researcher) in collaboration with thirteen School Social Workers (SSWs) (co-researchers-interveners), 11 from Greece and two from Cyprus. The SSWs performed an original “quarantine video-song” composed by the researcher and dedicated to all students, entitled “We’ve Not Forgotten You”. They promoted it publicly and used it as a tool in 15 tailor-made, arts-based, brief, systemic interventions to help enhance the educational inclusion of students who faced intense social isolation and marginalization challenges.
The main findings on how educational inclusion was enhanced are illustrated hereby by three indicative case studies, i.e. one migrant student, one student with chronic illness and disability, and a “whole school of Roma students”. Music and art were linked to the students’ interests and pandemic-related issues and offered them opportunities to strengthen their “voices” regarding the emerging challenges. Depending on the case, the interventions’ focus expanded from the individual and family level to the classroom, school, and community level. The interventions contributed to self-expression, empowerment, highlighting of strengths, and coping with transitions. They also enhanced the sense of school belonging and recognition, promoted interdisciplinary and inter-school collaborations, and strengthened the school-family-community relation. The SSWs, as co-researchers and members of a group coordinated by the researcher, exchanged feedback, and reflected collectively on the interventions, coming up with proposals for future action to enrich school social work practice during COVID-19 and beyond
Senescence in HBV-, HCV- and NAFLD- Mediated Hepatocellular Carcinoma and Senotherapeutics: Current Evidence and Future Perspective
No full textSimple Summary Recent scientific discoveries identify cell senescence as pivotal in hepatocellular cancer (HCC) biology. Specifically, hepatitis B virus (HBV), hepatitis C virus (HCV) and non-alcoholic fatty liver disease (NAFLD) are major risk factors for HCC occurrence and it seems that cell senescence serves as a mediator. Furthermore, senescence is also implicated in HCC therapy resistance. Therefore, understanding and harnessing senescence (via senotherapeutics) seems highly important towards the discovery of new preventative and treatment strategies. Herein, we review the role of cell senescence in HBV-, HCV- and NAFLD- mediated HCC, and also explore the possible place of senotherapeutics in the management of HCC. By shining the spotlight on senescence-mediated HCC, we aim to inspire future research towards this rapidly evolving and highly promising field. Cell senescence constitutes a physiological process that serves as protection from malignant transformation of cells. However, recent scientific discoveries also identify cell senescence as pivotal in hepatocellular cancer (HCC) biology. The review herein aimed to accumulate evidence on senescence as a mediator of HCC occurrence in hepatitis B (HBV), C (HCV) virus infections, and non-alcoholic fatty liver disease (NAFLD). In HBV infection, the carcinogenic HBV X protein frequently mutates during chronic infection, and subsequently exhibits different effects on senescence. In HCV infection, senescent non-functional T-cells do not effectively clear pre-malignant hepatocytes. Furthermore, the HCV Core protein inhibits the occurrence of normal stress-induced hepatocyte senescence, allowing damaged cells to maintain their proliferative potential. In NAFLD-mediated HCC, current data point towards the gut microbiome and hepatic stellate cell senescence. Additionally, senescence contributes in the development of resistance in targeted therapies, such as sorafenib. Finally, the promising role of senotherapeutics in HCC was also explored. Overall, although we may still be at a primitive stage in fully unraveling the role of senescence in cancer, it seems that understanding and harnessing senescence may have the potential to revolutionize the way we treat hepatocellular cancer
