Search results for "recte"
showing 10 items of 463 documents
Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.
2012
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3-5% and 2.7 ± 0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Noticeably, FVII antigen levels were barely detectable (0.7 ± 0.2%) which suggested a gain-of-function effect. This effect was more pronounced with bovine thromboplastin (4.8 ± 0.9%) and disappeared with rabbit thromboplastin (0.7 ± 0.2%). This suggests that the mutation influences tissue factor/FVII interactions. Whereas the recombinant rFVII-462X variant confirmed an increase in specific activit…
RNA methylation by Dnmt2 protects transfer RNAs against stress-induced cleavage
2010
The covalent modification of nucleic acids plays an important role in regulating the functions of DNA and RNA. DNA modifications have been analyzed in considerable detail, and the characterization of (cytosine-5) DNA methylation has been crucial for understanding the molecular basis of epigenetic gene regulation (Klose and Bird 2006). (Cytosine-5) methylation has also been documented in various RNA species, including tRNA, but the function of RNA methylation has not been firmly established yet (Motorin et al. 2010). Dnmt2 proteins were originally assigned to the DNA methyltransferase family, because of their strong sequence conservation of catalytic DNA methyltransferase motifs (Okano et al…
Rhinitis as a risk factor for depressive mood in pre-adolescents: a new approach to this relationship
2014
Background Respiratory allergic symptoms impact on social life and school activities, influencing the patient's mood states. We evaluated the relationships between allergic respiratory diseases and depressive/anxious mood in a large sample of Italian middle school students, using the partial directed acyclic graph (P-DAG). Methods We studied 1283 subjects aged 10–13. A health respiratory questionnaire including questions relevant to socioeconomic status (HCI) and a test for depression and anxiety were administered. All subjects performed spirometry and skin prick tests. Results A causal role of rhinitis on depression was found: the likelihood of being depressed increased from 11.2 to 17.7%,…
Best-corrected visual acuity and retinal thickness are associated with improved cortical visual processing in treated wet AMD patients
2015
Purpose In response to anti-VEGF treatment for wet AMD retinal anatomy and visual acuity is often remedied. In our previous study, we showed that visual evoked potentials (VEP) improve following successful anti-VEGF treatment. The aim of this study was to investigate, how visual acuity and retinal thickness changes are reflected in VEP parameters. Moreover, we wanted to assess the feasibility of VEP as a novel monitoring tool for wet AMD patients. Methods A total of 16 patients and six control subjects were enrolled in this study. Patients received three bevacizumab intravitreal injections. At the beginning of the study and four to 6 weeks after the last injection, the best-corrected visual…
Dexamethasone for unresponsive diabetic macular oedema: optical coherence tomography biomarkers
2019
Purpose: To analyse the effects of intravitreal dexamethasone implant (DEX) in patients with diabetic macular oedema (DME) unresponsive to ranibizumab treatment, in relation to the inflammatory optical coherence tomography (OCT) retinal features, subfoveal neuroretinal detachment (SND) and hyperreflective retinal spots (HRS). Methods: Patients with DME poorly responsive to three injections of ranibizumab were treated with DEX. Best-corrected visual acuity (BCVA) and central macula thickness (CMT, measured by Spectralis SD-OCT) were assessed at baseline and at 1, 3, and 6 months. Results: Overall, 44 eyes were included in the study. In the whole group, mean BCVA (baseline 51.5 ± 8.3 letters)…
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
2003
Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in the general population of Western countries(1,2). About 20% of individuals affected with migraine experience aura, a visual or sensory-motor neurological dysfunction that usually precedes or accompanies the headache(3). Although the mode of transmission is controversial(4), population-based and twin studies have implicated genetic factors, especially in migraine with aura(5,6). Familial hemiplegic migraine is a hereditary form of migraine characterized by aura and some hemiparesis. Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of t…
Implementation and optimization of the properties of a sandwich structure in biobased materials (fibres and Hemp wood) with an expanded polystyrene m…
2017
Due to the rapidly improving functionality of building materials, and increasingly complicated human resource management issues, the traditional cement-based building materials of the past are becoming less and less desirable.These outdated materials are being replaced by new structures of wall that better optimize choices of materials and their layouts. In this study, we propose a multi-function structure to be the unit of a typical wall (individual house), which can be produced via the use of inexpensive materials and classic manufacturing processes. To achieve this, we chose the renewable agricultural source of the hemp plant (hemp yarns and hemp shive particles), along with recycled exp…
An exact algorithm for the min-cost network containment problem
2004
A network design problem which arises in the distribution of a public utility provided by several competitive suppliers is studied. The problem addressed is that of determining minimum-cost (generalized) arc capacities in order to accommodate any demand between given source–sink pairs of nodes, where demands are assumed to fall within predetermined ranges. Feasible flows are initially considered as simply bounded by the usual arc capacity constraints. Then, more general linear constraints are introduced which may limit the weighted sum of the flows on some subsets of arcs. An exact cutting plane algorithm is presented for solving both of the above cases and some computational results are re…
The stacker crane problem and the directed general routing problem
2015
[EN] This article deals with the polyhedral description and the resolution of the directed general routing problem (DGRP) and the stacker crane problem (SCP). The DGRP contains a large number of important arc and node routing problems as special cases, including the SCP. Large families of facet-defining inequalities for the DGRP are described and a branch-and-cut algorithm for these problems is presented. Extensive computational experiments over different sets of DGRP and SCP instances are included.
Variable neighborhood search for the linear ordering problem
2006
Given a matrix of weights, the linear ordering problem (LOP) consists of finding a permutation of the columns and rows in order to maximize the sum of the weights in the upper triangle. This NP-complete problem can also be formulated in terms of graphs, as finding an acyclic tournament with a maximal sum of arc weights in a complete weighted graph. In this paper, we first review the previous methods for the LOP and then propose a heuristic algorithm based on the variable neighborhood search (VNS) methodology. The method combines different neighborhoods for an efficient exploration of the search space. We explore different search strategies and propose a hybrid method in which the VNS is cou…