34 research outputs found
Towards Explainable Interactive Multi-Modal Video Retrieval with vitrivr
This paper presents the most recent iteration of the vitrivr multimedia retrieval system for its participation in the Video Browser Showdown (VBS) 2021. Building on existing functionality for interactive multi-modal retrieval, we overhaul query formulation and results presentation for queries which specify temporal context, extend our database with index structures for similarity search and present experimental functionality aimed at improving the explainability of results with the objective of better supporting users in the selection of results and the provision of relevance feedback
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulator of COVID-19 outcomes. Here, we demonstrate that the rare complex allele [G576V;R668C] is associated with a milder disease via a gain-of-function mechanism. Conversely, CFTR ultra-rare alleles with reduced function are associated with disease severity either alone (dominant disorder) or with another hypomorphic allele in the second chromosome (recessive disorder) with a global residual CFTR activity between 50 to 91%. Furthermore, we characterized novel CFTR complex alleles, including [A238V;F508del], [R74W;D1270N;V201M], [I1027T;F508del], [I506V;D1168G], and simple alleles, including R347C, F1052V, Y625N, I328V, K68E, A309D, A252T, G542*, V562I, R1066H, I506V, I807M, which lead to a reduced CFTR function and thus, to more severe COVID-19. In conclusion, CFTR genetic analysis is an important tool in identifying patients at risk of severe COVID-19
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
Thrombosis of small and large vessels is reported as a key player in COVID-19 severity. However, host genetic determinants of this susceptibility are still unclear. Congenital Thrombotic Thrombocytopenic Purpura is a severe autosomal recessive disorder characterized by uncleaved ultra-large vWF and thrombotic microangiopathy, frequently triggered by infections. Carriers are reported to be asymptomatic. Exome analysis of about 3000 SARS-CoV-2 infected subjects of different severities, belonging to the GEN-COVID cohort, revealed the specific role of vWF cleaving enzyme ADAMTS13 (A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13). We report here that ultra-rare variants in a heterozygous state lead to a rare form of COVID-19 characterized by hyper-inflammation signs, which segregates in families as an autosomal dominant disorder conditioned by SARS-CoV-2 infection, sex, and age. This has clinical relevance due to the availability of drugs such as Caplacizumab, which inhibits vWF-platelet interaction, and Crizanlizumab, which, by inhibiting P-selectin binding to its ligands, prevents leukocyte recruitment and platelet aggregation at the site of vascular damage
A solution procedure for constrained eigenvalue problems and its application within the structural finite-element code NOSA-ITACA
The paper presents an efficient and reliable implementation of numerical methods for constrained generalized eigenvalue problems, specialized for the modal analysis of linear elastic structures in a finite-element setting. The implementation, which takes into account the sparsity of the stiffness and mass matrices and the features of master-slave constraints, is based on open-source packages embedded in the finite-element code NOSA-ITACA. Numerical tests on historical building are performed, with the aims of calculating their vibration frequencies and mode shape vectors, comparing them to the results of a general purpose commercial code and assessing the accuracy of the tool developed