MTA-SZTE Research Group on Artificial Intelligence
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A pleiotropy scan to discover new susceptibility loci for pancreatic ductal adenocarcinoma
Get PDFPleiotropic variants (i.e., genetic polymorphisms influencing more than one phenotype) are often associated with cancer risk. A scan of pleiotropic variants was successfully conducted ten years ago in relation to pancreatic ductal adenocarcinoma susceptibility. However, in the last decade, genetic association studies performed on several human traits have greatly increased the number of known pleiotropic variants. Based on the hypothesis that variants already associated with a least one trait have a higher probability of association with other traits, 61,052 variants reported to be associated by at least one genome wide association study (GWAS) with at least one human trait were tested in the present study consisting of two phases (discovery and validation), comprising a total of 16,055 pancreatic ductal adenocarcinoma (PDAC) cases and 212,149 controls. The meta-analysis of the two phases showed two loci (10q21.1-rs4948550 (P=6.52×10-5) and 7q36.3-rs288762 (P=3.03×10-5) potentially associated with PDAC risk. 10q21.1-rs4948550 shows a high degree of pleiotropy and it is also associated with colorectal cancer risk while 7q36.3-rs288762 is situated 28,558 base pairs upstream of the Sonic Hedgehog (SHH) gene, which is involved in the cell differentiation process and PDAC etiopathogenesis. In conclusion, none of the single nucleotide polymorphisms (SNPs) showed a formally statistically significant association after correction for multiple testing. However, given their pleiotropic nature and association with various human traits including colorectal cancer, the two SNPs showing the best associations with PDAC risk merit further investigation through fine mapping and ad hoc functional studies
TRPS1 expression in breast angiosarcoma
Get PDFAngiosarcoma (AS) of the breast, a rare mesenchymal neoplasm, exhibits distinct forms based on etiological and genetic features. While cases with typical clinical presentation and morphology allow for a straightforward diagnosis, challenges arise when clinical data are scarce, diagnostic material is limited, or morphological characteristics overlap with other tumors, including undifferentiated carcinomas. The trichorhinophalangeal syndrome protein 1 (TRPS1), once regarded as highly specific for breast carcinomas, now faces doubts regarding its reliability. This study explores TRPS1 expression in breast AS. Our investigation revealed that 60% of AS cases displayed TRPS1 labeling, contrasting with the 40% lacking expression. Scoring by four independent readers established a consensus, designating 12/35 ASs as unequivocally TRPS1-positive. However, uncertainty surrounded nine further cases due to a lack of reader agreement (being substantial as reflected by a kappa value of 0.76). These findings challenge the perceived specificity of TRPS1, shedding light on its presence in a noteworthy proportion of breast ASs. Consequently, the study underscores the importance of a comprehensive approach in evaluating breast ASs and expands the range of entities within the differential diagnosis associated with TRPS1 labeling
Floodplains along the Danube River evaluated with the Floodplain Evaluation Matrix (FEM) determining their importance for flood protection, ecology, and socio-economics
Get PDFThis study presents a method to investigate the influence of active floodplains on flood protection, ecology, and socio-economics. We used and further developed the Floodplain Evaluation Matrix (FEM) to systematically assess the Danube River, known as the most international river worldwide. The study also aims to develop a method applicable to other large rivers, taking into account different data availability and research objectives. Hydrological, hydraulic, ecological, and socio-economic parameters were assessed to address the multiple functions and services of floodplains. The evaluation showed that some active floodplains significantly reduce the impact of a 100-year flood event, with relative flood peak reductions by up to 17% and decelerating the flood wave by up to 41.5 h. While other floodplains may not have a noticeable impact on hydrological or hydraulic parameters, they play a crucial role in preserving biodiversity by providing essential habitats for protected species. We introduced an approach to assess whether a floodplain should be preserved and to categorize the restoration demand as low, medium, or high. Our findings indicate a universal need for preservation and restoration measures across all floodplains, with 81% demonstrating a high or medium demand for restoration. Preservation and restoration of floodplains are integral parts of achieving more sustainable floodplain management for each river. Applying the FEM to other large rivers could create a basis for sustainable decision-making, increase awareness of the multiple benefits of floodplains, and foster the implementation of preservation and restoration measures
Accidental extraction of a lead remnant with a leadless pacemaker delivery system: [case report].
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Selective justice in the European Union: criminalising supply, ignoring demand in the counterfeit goods market
Get PDFThis study explores the criminal law protection of industrial property in Hungarian and European contexts, showing how trademark holders’ interests often override legality and proportionality in counterfeiting cases. It argues that counterfeiting involves consumer complicity and that purchasing fake goods constitutes money laundering under EU law—despite the appeal of symbolic consumption. The money laundering aspect remains overlooked, with buyers rarely prosecuted. As a result, criminal law addresses only part of the problem, undermining the coherence of the legal system
Artificial intelligence-based chatbots improve the efficiency of course orientation among medical students: a cross-sectional study
Get PDFSome new Hadamard-type inequalities via fractional integral operators
Get PDFEl artículo presenta nuevas desigualdades de tipo Hadamard que se obtienen utilizando operadores integrales fraccionarios pertenecientes a una función cuya derivada de tercer orden es convexa. Las desigualdades de tipo Hadamard propuestas tienen potencial de aplicación en diversas áreas donde se requiere estimar las propiedades de funciones con una derivada convexa de tercer orden. Se dan ejemplos de funciones basados en un análisis comparativo de las estimaciones de los límites superiores de las desigualdades de tipo Hadamard obtenidas utilizando las desigualdades Hölder clásica y extendida. Finalmente, se proporcionan aplicaciones a funciones especiales