Browsing by Issue Date, starting with "2024-08-29"
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- Colocalised genetic associations reveal alternative splicing variants as candidate causal links for breast cancer risk in 10 LociPublication . Duarte, André; Carrasqueiro, Beatriz; Vieira de Sousa, Cármen Sofia; Gonçalves de Gouveia Maia Xavier, Joana; Maia, Ana-TeresaSimple Summary Hundreds of common genetic variants have been linked to breast cancer, but their exact mechanisms of action remain unclear. Understanding these mechanisms could lead to better prevention strategies and improved survival rates. Our study focused on how these variants influence splicing-a process by which a gene's coding elements are rearranged to produce different proteins. By analysing data from healthy breast tissue, we identified 43 variants within twelve genes associated with both alternative splicing and breast cancer risk. We then used advanced computational tools and existing experimental data to explore the biological significance of these findings.Abstract Genome-wide association studies (GWASs) have revealed numerous loci associated with breast cancer risk, yet the precise causal variants, their impact on molecular mechanisms, and the affected genes often remain elusive. We hypothesised that specific variants exert their influence by affecting cis-regulatory alternative splice elements. An analysis of splicing quantitative trait loci (sQTL) in healthy breast tissue from female individuals identified multiple variants linked to alterations in splicing ratios. Through colocalisation analysis, we pinpointed 43 variants within twelve genes that serve as candidate causal links between sQTL and GWAS findings. In silico splice analysis highlighted a potential mechanism for three genes-FDPS, SGCE, and MRPL11-where variants in proximity to or on the splice site modulate usage, resulting in alternative splice transcripts. Further in vitro/vivo studies are imperative to fully understand how these identified changes contribute to breast oncogenesis. Moreover, investigating their potential as biomarkers for breast cancer risk could enhance screening strategies and early detection methods for breast cancer.
- An experimental approach on dynamic occlusal fingerprint analysis to simulate use-wear localisation and development on stone toolsPublication . Rausch, Hannah; Marreiros, Joao; Kullmer, Ottmar; Schunk, Lisa; Gneisinger, Walter; Calandra, IvanInformation about the use of stone tools in the past is encoded in the wear patterns left on their surface; however, post-depositional processes can modify and obstruct these traces. One aim in the field of lithic functional analysis is to develop methods to detect and quantify these traces on stone tools. The occlusal fingerprint analysis (OFA) is a well-established method in dental wear studies to virtually simulate dental occlusal (contact between teeth) stroke movements and thus locate and quantify the sequential contact between opposing tooth crowns. Reaching across disciplines, we conducted controlled experiments to test the applicability of the OFA method on stone tools to address the challenge of use-wear quantification and localisation, and therefore the identification of post-depositional wear. Our findings reveal a clear overlap between zones of experimentally produced use-wear and OFA-calculated contact areas. We demonstrate OFA as a potential method to generate models of multiscale use-wear that can be used as references on experimental tools to identify post-depositional surface modifications on stone tool artefacts.
- Propositional density: cognitive impairment and agingPublication . Harrag, Chaimae; Sabil, Abdelkader; Conceição, Manuel Célio; Radvansky, Gabriel A.It is important to understand the relationship between cognitive abilities and language processing. Here, we explore a burgeoning area of research that harnesses semantic indices to predict cognitive impairment and track cognitive decline. One such index, propositional density, quantifies the information conveyed per language segment. Despite some variation stemming from methodological, sampling, and measurement differences, we suggest that propositional density has diagnostic and assessment value. This paper surveys existing studies that have used propositional density in the context of cognitive aging and impairment and offers some insights into the use of this index to highlight differences in cognition. We also suggest further explorations of basic research involving this concept, and some applications for assessing cognitive health.
- Virtual reconstruction of stone tool refittings by using 3D modelling and the Blender Engine: the application of the “ReViBE” protocol to the archaeological recordPublication . Sánchez-Martínez, Javier; Calmet, Katia; Martínez Moreno, Jorge; Roda Gilabert, Xavier; Marco PeresaniVisual representation of material culture plays a crucial role in prehistoric archaeology, from academic research to public outreach and communication. Scientific illustration is a valuable tool for visualising lithic artefacts and refittings, where technical attributes must be drawn to enhance our understanding of their significance. However, the representation of lithic refittings, which involve dynamic and sequential transformations of a volume, requires an alternative approach to traditional two-dimensional models such as photography or illustration. Advances in imaging technologies have improved our ability to capture and communicate the multifaceted nature of archaeological artefacts. In this context, we present the ReViBE protocol (Refitting Visualisation using Blender Engine), which integrates photogrammetry, 3D modelling and the animation software Blender (c) for the virtual representation of lithic refittings. This protocol allows the sequential study of core reduction phases and their associated flakes, as well as other aspects related to knapping decision making (core rotations, surface modifications, and direction and position of impact points). Thus, this method allows the visualisation of techno-cognitive aspects involved in core reduction through a step-by-step animation process. In addition, the 3D models and virtual reconstructions generated by ReViBE can be accessed through open repositories, in line with the principles of open science and FAIR (Findable, Accessible, Interoperable, and Reusable) data. This accessibility ensures that data on lithic technology and human behaviour are widely available, promoting transparency and knowledge sharing, and enabling remote lithic analysis. This in turn breaks down geographical barriers and encourages scientific collaboration.
- Health hazards implication for household solid waste collectors of north city corporation in Dhaka: a post-COVID studyPublication . Ahmed, F.; Ratna, T. S.; Sharmin, N.; Chowdhury, A.; Rana, S.; Hasasn, S.; Tumon, S. H.; Islam, S.; Hossain, Mohammed MotaherSolid waste management has been one of the challenging tasks for the waste collectors at Dhaka North City corporations, especially during the post-COVID-19 period, since this task exposes several acute and chronic illnesses. The perilous implications of waste collection on the health condition of the waste collectors at the Dhaka North City Corporation (DNCC) have often been ignored, and they have to work without adequate protective measures. Though different research has already been done regarding the occupational health hazards of waste collectors, the novelty of this study is that it considers the post-COVID period and focuses on the solid waste picker of DNCC. This study aimed to evaluate the current health hazards faced by DNCC household waste collectors and suggest remedial actions. A questionnaire-based survey (n = 415) assessed work environment, socio-economic status, and post-COVID-19 health hazard awareness through convenience sampling. Descriptive statistics, Pearson's chi-square tests, and binary logistic regression were adopted to analyze the data. Descriptive statistics portray that 81.8% of waste pickers are not satisfied with their work environment. Additionally, 66% of solid waste collectors face health issues, and 58% of waste collectors are unaware of the risk of COVID-19. Pearson's chi-square tests reveal that the health hazards of waste pickers are significantly associated with job type, working hours, Awareness of solid waste effect on health and severe suffering history. Additionally, the binary logistic regression model exposed job type, Awareness of solid waste effect on health, frequently suffered diseases, and severe suffering history has significant (p-value < 0.05) impact on the health hazard of a waste picker of DNCC. Regarding the policy implication, Dhaka North City Corporation must take immediate action that will significantly reduce the hazardous impacts of solid waste collection on the health of the waste collectors by supplying them with adequate protective measures.
- Charting a greener path: ESGE and ESGENA’s vision for sustainable gastrointestinal endoscopyPublication . Neves, João A. Cunha; Santiago, Enrique Rodríguez deAs the climate crisis casts an ever-growing shadow over our planet, it is imperative for all sectors, including healthcare, to reassess their impact on the environment and redefine their practices. Healthcare, a field intrinsically linked to the well-being of humanity, finds itself at a crossroads.