| 1. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 2. |
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| 3. |
- Menden, MP, et al.
(författare)
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Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 2674-
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Tidskriftsartikel (refereegranskat)abstract
- The effectiveness of most cancer targeted therapies is short-lived. Tumors often develop resistance that might be overcome with drug combinations. However, the number of possible combinations is vast, necessitating data-driven approaches to find optimal patient-specific treatments. Here we report AstraZeneca’s large drug combination dataset, consisting of 11,576 experiments from 910 combinations across 85 molecularly characterized cancer cell lines, and results of a DREAM Challenge to evaluate computational strategies for predicting synergistic drug pairs and biomarkers. 160 teams participated to provide a comprehensive methodological development and benchmarking. Winning methods incorporate prior knowledge of drug-target interactions. Synergy is predicted with an accuracy matching biological replicates for >60% of combinations. However, 20% of drug combinations are poorly predicted by all methods. Genomic rationale for synergy predictions are identified, including ADAM17 inhibitor antagonism when combined with PIK3CB/D inhibition contrasting to synergy when combined with other PI3K-pathway inhibitors in PIK3CA mutant cells.
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| 4. |
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| 7. |
- Garne, E, et al.
(författare)
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Gastrostomy and congenital anomalies: a European population-based study
- 2022
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Ingår i: BMJ paediatrics open. - : BMJ. - 2399-9772. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- To report and compare the proportion of children with and without congenital anomalies undergoing gastrostomy for tube feeding in their first 5 years.MethodsA European, population-based data-linkage cohort study (EUROlinkCAT). Children up to 5 years of age registered in nine EUROCAT registries (national and regional) in six countries and children without congenital anomalies (reference children) living in the same geographical areas were included. Data on hospitalisation and surgical procedures for all children were obtained by electronic linkage to hospital databases.ResultsThe study included 91 504 EUROCAT children and 1 960 272 reference children. Overall, 1200 (1.3%, 95% CI 1.2% to 1.6%) EUROCAT children and 374 (0.016%, 95% CI 0.009% to 0.026%) reference children had a surgical code for gastrostomy within the first 5 years of life. There were geographical variations across Europe with higher rates in Northern Europe compared with Southern Europe. Around one in four children with Cornelia de Lange syndrome and Wolf-Hirschhorn syndrome had a gastrostomy. Among children with structural anomalies, those with oesophageal atresia had the highest proportion of gastrostomy (15.9%).ConclusionsThis study including almost 2 million reference children in Europe found that only 0.016% of these children had a surgery code for gastrostomy before age 5 years. The children with congenital anomalies were on average 80 times more likely to need a gastrostomy before age 5 years than children without congenital anomalies. More than two-thirds of gastrostomy procedures performed within the first 5 years of life were in children with congenital anomalies.
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| 8. |
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| 9. |
- Simancas, J.F., et al.
(författare)
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The seismic crustal structure of the Ossa-Morena Zone and its geological interpretation
- 2004
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Ingår i: Journal of Iberian Geology. - 1698-6180 .- 1886-7995. ; 30, s. 133-142
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Tidskriftsartikel (refereegranskat)abstract
- The IBERSEIS deep reflection seismic experiment has provided a crustal image of the Variscan orogen of southwest Iberia. A brief presentation of the entire seismic profile is given, and then the Ossa-Morena Zone (OMZ) and its boundaries are considered. The crust of the OMZ is shown to be divided into an upper crust, characterized by dominantly NE-dipping reflectivity, and a poorly reflective lower crust. The reflectivity of the upper crust has good correlation with the geological cross-section constructed from surface mapping. In the seismic image, the upper crustal geological structures are seen to merge in the middle crust. Nevertheless, the OMZ middle crust is not a mere detachment level, as it shows very unusual features: it appears as a band of strong reflectivity and irregular thickness (the Iberian Reflective Body, IRB) that we interpret as a great sill-like intrusion of basic rocks. The boundaries of the OMZ are considered sutures of the orogen, and their geometrical features, as deduced from geological mapping and the seismic image, are in accordance with the transpressional character of the Variscan collision recorded in SW Iberia. The present Moho is flat, obliterating the root of the orogen.
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| 10. |
- Garne, E, et al.
(författare)
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Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies-A Population-Based Data Linkage Study
- 2023
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Ingår i: International journal of environmental research and public health. - : MDPI AG. - 1660-4601. ; 20:5
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Tidskriftsartikel (refereegranskat)abstract
- Little is known about morbidity for children with rare structural congenital anomalies. This European, population-based data-linkage cohort study analysed data on hospitalisations and surgical procedures for 5948 children born 1995–2014 with 18 rare structural congenital anomalies from nine EUROCAT registries in five countries. In the first year of life, the median length of stay (LOS) ranged from 3.5 days (anotia) to 53.8 days (atresia of bile ducts). Generally, children with gastrointestinal anomalies, bladder anomalies and Prune-Belly had the longest LOS. At ages 1–4, the median LOS per year was ≤3 days for most anomalies. The proportion of children having surgery before age 5 years ranged from 40% to 100%. The median number of surgical procedures for those under 5 years was two or more for 14 of the 18 anomalies and the highest for children with Prune-Belly at 7.4 (95% CI 2.5–12.3). The median age at first surgery for children with atresia of bile ducts was 8.4 weeks (95% CI 7.6–9.2) which is older than international recommendations. Results from the subset of registries with data up to 10 years of age showed that the need for hospitalisations and surgery continued. The burden of disease in early childhood is high for children with rare structural congenital anomalies.
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| 11. |
- Miliucci, M., et al.
(författare)
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Kaonic Deuterium Precision Measurement at DA Φ NE : The SIDDHARTA-2 Experiment
- 2020
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Ingår i: Recent Progress in Few-Body Physics : Proceedings of the 22nd International Conference on Few-Body Problems in Physics, FB22 2018 - Proceedings of the 22nd International Conference on Few-Body Problems in Physics, FB22 2018. - Cham : Springer International Publishing. - 0930-8989 .- 1867-4941. - 9783030323561 - 9783030323578 ; 238, s. 965-969
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Bokkapitel (refereegranskat)abstract
- Light kaonic atoms spectroscopy offers the unique opportunity to perform experiments equivalent to scattering at vanishing relative energies. This allows the determination of the antikaon-nucleus interaction at threshold, without the need of extrapolation to zero energy, as in the case of scattering experiments. In this framework, the SIDDHARTA-2 collaboration aims to perform the first measurement of kaonic deuterium transition to the fundamental level, which is mandatory to extract the isospin dependent antikaon—nucleon scattering lengths. The experiment will be carried out at the DA(formula presented)NE collider of LNF-INFN in 2019–2020.
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| 12. |
- Rodriguez Prieto, Juan Manuel, et al.
(författare)
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Generation of segmental chips in metal cutting modeled with the PFEM
- 2018
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Ingår i: Computational Mechanics. - : Springer. - 0178-7675 .- 1432-0924. ; 61:6, s. 639-655
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Tidskriftsartikel (refereegranskat)abstract
- The Particle Finite Element Method, a lagrangian finite element method based on a continuous Delaunay re-triangulation of the domain, is used to study machining of Ti6Al4V. In this work the method is revised and applied to study the influence of the cutting speed on the cutting force and the chip formation process. A parametric methodology for the detection and treatment of the rigid tool contact is presented. The adaptive insertion and removal of particles are developed and employed in order to sidestep the difficulties associated with mesh distortion, shear localization as well as for resolving the fine-scale features of the solution. The performance of PFEM is studied with a set of different two-dimensional orthogonal cutting tests. It is shown that, despite its Lagrangian nature, the proposed combined finite element-particle method is well suited for large deformation metal cutting problems with continuous chip and serrated chip formation.
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| 13. |
- Carbonell, R., et al.
(författare)
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Geophysical Evidence of a Mantle Plume Derived Intrusion Complex
- 2004
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 31, s. L11601-
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- Deep seismic reflection data acquired as part of the SW-Iberia EUROPROBE project across the transpressional Variscan orogen sample three tectonic terranes: the South Portuguese Zone, the Ossa-Morena Zone, and the Central Iberian Zone. The seismic data reveal the existence of a mid-crustal reflective body 140 km long and of variable thickness (up to 5 km), the Iberian Reflective body. The conductivity image provided by coincident MT soundings, the amplitude characteristics of the seismics, mineralization studies related to magmatic ore deposits, and the surface geology suggest that the IRB is a mantle-derived mafic intrusion. The geophysical, geological and petrological data suggest that the IRB is most probably an Early Carboniferous (approximately at 350–340 Ma) mantle-derived intrusion possibly linked to plume activity that took place in Europe in the Carboniferous and Permian.
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| 14. |
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| 15. |
- Carraminana, Albert, et al.
(författare)
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Rationale and Study Design for an Individualized Perioperative Open Lung Ventilatory Strategy in Patients on One-Lung Ventilation (iPROVE-OLV)
- 2019
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Ingår i: Journal of Cardiothoracic and Vascular Anesthesia. - : W B SAUNDERS CO-ELSEVIER INC. - 1053-0770 .- 1532-8422. ; 33:9, s. 2492-2502
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aim of this clinical trial is to examine whether it is possible to reduce postoperative complications using an individualized perioperative ventilatory strategy versus using a standard lung-protective ventilation strategy in patients scheduled for thoracic surgery requiring one-lung ventilation. Design: International, multicenter, prospective, randomized controlled clinical trial. Setting: A network of university hospitals. Participants: The study comprises 1,380 patients scheduled for thoracic surgery. Interventions: The individualized group will receive intraoperative recruitment maneuvers followed by individualized positive end-expiratory pressure (open lung approach) during the intraoperative period plus postoperative ventilatory support with high-flow nasal cannula, whereas the control group will be managed with conventional lung-protective ventilation. Measurements and Main Results: Individual and total number of postoperative complications, including atelectasis, pneumothorax, pleural effusion, pneumonia, acute lung injury; unplanned readmission and reintubation; length of stay and death in the critical care unit and in the hospital will be analyzed for both groups. The authors hypothesize that the intraoperative application of an open lung approach followed by an individual indication of high-flow nasal cannula in the postoperative period will reduce pulmonary complications and length of hospital stay in high-risk surgical patients. (C) 2019 Published by Elsevier Inc.
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| 16. |
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| 17. |
- Cruz, Raquel, et al.
(författare)
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Novel genes and sex differences in COVID-19 severity
- 2022
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
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Tidskriftsartikel (refereegranskat)abstract
- Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
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| 18. |
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| 19. |
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| 20. |
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| 21. |
- Perez-Tris, Javier, et al.
(författare)
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Historical diversification of migration patterns in a passerine bird
- 2004
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Ingår i: Evolution. - 1558-5646. ; 58:8, s. 1819-1832
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Tidskriftsartikel (refereegranskat)abstract
- Migratory strategies of birds require complex orientation mechanisms, morphological adaptations, and life-history adjustments. From an evolutionary perspective, it is important to know how fast this complex combination of traits can evolve. We analyzed mitochondrial control-region DNA sequences in 241 blackcaps (Sylvia atricapilla) from 12 populations with different migratory behaviors. The sample included sedentary populations in Europe and Atlantic archipelagos and migratory populations with different distances of migration, from regional to intercontinental migrations, and different heading directions (due to a migratory divide in central Europe). There was no genetic structure between migratory and sedentary populations, or among populations from different biogeographic areas (Atlantic islands, the Iberian Peninsula, or the continent), however we found evidence of a genetic structure when comparing populations located on either side of the migratory divide. These findings support an independent evolution of highly divergent migratory strategies in blackcaps, occurring after a postglacial colonization of the continent along western and eastern routes. Accordingly, mismatch-distribution analyses suggested an expansion of blackcaps from a very small population size, and time estimates dated such an expansion during the last postglacial period. However, the populations in Gibraltar, located in a putative Mediterranean refuge, appeared to be independent of these processes, showing evidence of restricted gene flow with other populations and demonstrating insignificant historical changes in effective population size. Our results show that the interruption of gene flow between migratory and sedentary populations is not necessary for the maintenance of such a polymorphism, and that even the most divergent migratory strategies of a bird species are susceptible to evolution in response to historical environmental changes.
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| 22. |
- Rodriguez, Juan Manuel, et al.
(författare)
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Continuous chip formation in metal cutting processes using the Particle Finite Element Method (PFEM)
- 2017
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Ingår i: International Journal of Solids and Structures. - : Elsevier. - 0020-7683 .- 1879-2146. ; 120, s. 81-102
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a study on the metal cutting simulation with a particular numerical technique, the Particle Finite Element Method (PFEM) with a new modified time integration algorithm and incorporating a contact algorithm capability . The goal is to reproduce the formation of continuous chip in orthogonal machining. The paper tells how metal cutting processes can be modelled with the PFEM and which new tools have been developed to provide the proper capabilities for a successful modelling. The developed method allows for the treatment of large deformations and heat conduction, workpiece-tool contact including friction effects as well as the full thermo-mechanical coupling for contact. The difficulties associated with the distortion of the mesh in areas with high deformation are solved introducing new improvements in the continuous Delaunay triangulation of the particles. The employment of adaptative insertion and removal of particles at every new updated configuration improves the mesh quality allowing for resolution of finer-scale features of the solution. The performance of the method is studied with a set of different two-dimensional tests of orthogonal machining. The examples consider, from the most simple case to the most complex case, different assumptions for the cutting conditions and different material properties. The results have been compared with experimental tests showing a good competitiveness of the PFEM in comparison with other available simulation tools.
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| 23. |
- Rodriguez, J. M., et al.
(författare)
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Implicit or explicit time integration schemes in the PFEM modeling of metal cutting processes
- 2022
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Ingår i: Computational Particle Mechanics. - : Springer. - 2196-4378 .- 2196-4386. ; 9:4, s. 709-733
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Tidskriftsartikel (refereegranskat)abstract
- This work presents the development of an explicit/implicit particle finite element method (PFEM) for the 2D modeling of metal cutting processes. The purpose is to study the efficiency of implicit and explicit time integration schemes in terms of precision, accuracy and computing time. The formulation for implicit and explicit time marching schemes is developed, and a detailed study on the explicit solution steps is presented. The PFEM remeshing procedures for insertion and removal of particles have been improved to model the multiple scales of time and/or space of the solution. The detection and treatment of the rigid tool contact are presented for both, implicit and explicit schemes. The performance of explicit/implicit integration is studied with a set of different two-dimensional orthogonal cutting tests of AISI 4340 steel at cutting speeds ranging from 1 m/s up to 30 m/s. It was shown that if the correct selection of the time integration scheme is made, the computing time can decrease up to 40 times. It allows us to affirm that the computing time of the PFEM simulations can be excessive due to the used time marching scheme independently of the meshing process. As a practical result, a set of recommendations to select the time integration schemes for a given cutting speed are given. This is intended to minimize one of the negative constraints pointed out by the industry when using metal cutting simulators.
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| 24. |
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| 27. |
- Alcalde, J., et al.
(författare)
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3-D reflection seismic imaging of the Hontomin structure in the Basque-Cantabrian Basin (Spain)
- 2013
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Ingår i: Solid Earth. - : Copernicus GmbH. - 1869-9510 .- 1869-9529. ; 4:2, s. 481-496
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Tidskriftsartikel (refereegranskat)abstract
- The Basque-Cantabrian Basin of the northern Iberia Peninsula constitutes a unique example of a major deformation system, featuring a dome structure developed by extensional tectonics followed by compressional reactivation. The occurrence of natural resources in the area and the possibility of establishing a geological storage site for carbon dioxide motivated the acquisition of a 3-D seismic reflection survey in 2010, centered on the Jurassic Hontomin dome. The objectives of this survey were to obtain a geological model of the overall structure and to establish a baseline model for a possible geological CO2 storage site. The 36 km(2) survey included approximately 5000 mixed (Vibroseis and explosives) source points recorded with a 25 m inline source and receiver spacing. The target reservoir is a saline aquifer, at approximately 1450 m depth, encased and sealed by carbonate formations. Acquisition and processing parameters were influenced by the rough topography and relatively complex geology. A strong near-surface velocity inversion is evident in the data, affecting the quality of the data. The resulting 3-D image provides constraints on the key features of the geologic model. The Hontom n structure is interpreted to consist of an approximately 10(7) m(2) large elongated dome with two major (W-E and NW-SE) striking faults bounding it. Preliminary capacity estimates indicate that about 1.2 Gt of CO2 can be stored in the target reservoir.
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| 28. |
- Alcalde, J., et al.
(författare)
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Active seismic characterization experiments of the Hontomin research facility for geological storage of CO2, Spain
- 2013
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Ingår i: International Journal of Greenhouse Gas Control. - : Elsevier BV. - 1750-5836 .- 1878-0148. ; 19:0, s. 785-795
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Tidskriftsartikel (refereegranskat)abstract
- An active source seismic experiment was carried out as part of the subsurface characterization study of the first Spanish Underground Research Facility for Geological Storage of CO2 in Hontomín (Burgos, Spain). The characterization experiment included a 36 km2 3D seismic reflection survey and two three-component seismic profiles. The target reservoir is a saline aquifer located at 1450 m depth within Lower Jurassic carbonates (Lias). The main seal is formed by interlayered marlstones and marly limestones of Early to Middle Jurassic age (Dogger and Lias). The seismic images obtained allow defining the 3D underground architecture of the reservoir site. The structure consists of an asymmetric dome crosscut by a relatively complex fault system. The detailed characterization of the fracture system is currently under study to unravel the geometric distribution of the faults and their extent within the different formations that form the structure. The constrained model has guided the design of the injection and monitoring boreholes and provided the data for the baseline study. The resultant high resolution seismic model will be used as a reference in future monitoring stages.
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| 29. |
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| 31. |
- Brown, D., et al.
(författare)
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Mountain building processes during continent-continent collision in the Uralides
- 2008
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Ingår i: Earth-Science Reviews. - : Elsevier BV. - 0012-8252 .- 1872-6828. ; 89:3-4, s. 177-195
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Tidskriftsartikel (refereegranskat)abstract
- Since the early 1990's the Paleozoic Uralide Orogen of Russia has been the target of a significant research initiative as part of EUROPROBE and GEODE, both European Science Foundation programmes. One of the main objectives of these research programmes was the determination of the tectonic processes that went into the formation of the orogen. In this review paper we focus on the Late Paleozoic continent-continent collision that took place between Laurussia and Kazakhstania. Research in the Uralides was concentrated around two deep seismic profiles crossing the orogen. These were accompanied by geological, geophysical, geochronological, geochemical, and low-temperature thermochronological studies. The seismic profiles demonstrate that the Uralides has an overall bivergent structural architecture, but with significantly different reflectivity characteristics from one tectonic zone to another. The integration of other types of data sets with the seismic data allows us to interpret what tectonic processes where responsible for the formation of the structural architecture, and when they were active. On the basis of these data, we suggest that the changes in the crustal-scale structural architecture indicate that there was significant partitioning of tectonothermal conditions and deformation from zone to zone across major fault systems, and between the lower and upper crust. Also, a number of the structural features revealed in the bivergent architecture of the orogen formed either in the Neoproterozoic or in the Paleozoic, prior to continent-continent collision. From the end of continent-continent collision to the present, low-temperature thermochronology suggests that the evolution of the Uralides has been dominated by erosion and slow exhumation. Despite some evidence for more recent topographic uplift, it has so far proven difficult to quantify it.
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| 34. |
- Ferrando, Carlos, et al.
(författare)
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Effects of oxygen on post-surgical infections during an individualised perioperative open-lung ventilatory strategy : a randomised controlled trial
- 2020
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Ingår i: British Journal of Anaesthesia. - : ELSEVIER SCI LTD. - 0007-0912 .- 1471-6771. ; 124:1, s. 110-120
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Tidskriftsartikel (refereegranskat)abstract
- Background: We aimed to examine whether using a high fraction of inspired oxygen (FIO2) in the context of an individualised intra- and postoperative open-lung ventilation approach could decrease surgical site infection (SSI) in patients scheduled for abdominal surgery. Methods: We performed a multicentre, randomised controlled clinical trial in a network of 21 university hospitals from June 6, 2017 to July 19, 2018. Patients undergoing abdominal surgery were randomly assigned to receive a high (0.80) or conventional (0.3) FIO2 during the intraoperative period and during the first 3 postoperative hours. All patients were mechanically ventilated with an open-lung strategy, which included recruitment manoeuvres and individualised positive end-expiratory pressure for the best respiratory-system compliance, and individualised continuous postoperative airway pressure for adequate peripheral oxyhaemoglobin saturation. The primary outcome was the prevalence of SSI within the first 7 postoperative days. The secondary outcomes were composites of systemic complications, length of intensive care and hospital stay, and 6-month mortality. Results: We enrolled 740 subjects: 371 in the high FIO2 group and 369 in the low FIO2 group. Data from 717 subjects were available for final analysis. The rate of SSI during the first postoperative week did not differ between high (8.9%) and low (9.4%) FIO2 groups (relative risk [RR]: 0.94; 95% confidence interval [CI]: 0.59-1.50; P=0.90]). Secondary outcomes, such as atelectasis (7.7% vs 9.8%; RR: 0.77; 95% CI: 0.48-1.25; P=0.38) and myocardial ischaemia (0.6% [n=2] vs 0% [n=0]; P=0.47) did not differ between groups. Conclusions: An oxygenation strategy using high FIO2 compared with conventional FIO2 did not reduce postoperative SSIs in abdominal surgery. No differences in secondary outcomes or adverse events were found.
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| 35. |
- Glinianaia, SV, et al.
(författare)
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Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study
- 2023
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Ingår i: Archives of disease in childhood. - : BMJ. - 1468-2044 .- 0003-9888. ; 108:6, s. 461-467
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Tidskriftsartikel (refereegranskat)abstract
- To investigate the survival to 10 years of age of children with trisomy 13 (T13) and children with trisomy 18 (T18), born 1995–2014.DesignPopulation-based cohort study that linked mortality data to data on children born with T13 or T18, including translocations and mosaicisms, from 13 member registries of EUROCAT, a European network for the surveillance of congenital anomalies.Setting13 regions in nine Western European countries.Patients252 live births with T13 and 602 with T18.Main outcome measuresSurvival at 1 week, 4 weeks and 1, 5 and 10 years of age estimated by random-effects meta-analyses of registry-specific Kaplan-Meier survival estimates.ResultsSurvival estimates of children with T13 were 34% (95% CI 26% to 46%), 17% (95% CI 11% to 29%) and 11% (95% CI 6% to 18%) at 4 weeks, 1 and 10 years, respectively. The corresponding survival estimates were 38% (95% CI 31% to 45%), 13% (95% CI 10% to 17%) and 8% (95% CI 5% to 13%) for children with T18. The 10-year survival conditional on surviving to 4 weeks was 32% (95% CI 23% to 41%) and 21% (95% CI 15% to 28%) for children with T13 and T18, respectively.ConclusionsThis multi-registry European study found that despite extremely high neonatal mortality in children with T13 and T18, 32% and 21%, respectively, of those who survived to 4 weeks were likely to survive to age 10 years. These reliable survival estimates are useful to inform counselling of parents after prenatal diagnosis.
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| 36. |
- Johansen, N., et al.
(författare)
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Surgical Strategy for Contralateral Groin Management in Patients Scheduled for Unilateral Inguinal Hernia Repair : An International Web-Based Surveymonkey® Questionnaire: Strategy for Contralateral Groin Management during Inguinal Hernia Repair
- 2021
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Ingår i: Scandinavian Journal of Surgery. - : SAGE Publications. - 1457-4969 .- 1799-7267. ; 110:3, s. 368-372
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Tidskriftsartikel (refereegranskat)abstract
- Background: A contralateral occult inguinal hernia is frequently observed in patients planned for a unilateral laparoscopic inguinal hernia repair. Surgical strategy for contralateral groin management in patients scheduled for an endo-laparoscopic unilateral inguinal hernia repair is controversial and based on questionable evidence. This study aimed to gather international opinion concerning the surgical strategy for the contralateral asymptomatic side when no hernia or lipoma is clinically evident at the preoperative examination or anamnesis. Methods: An international Internet-based questionnaire was sent to all the members of the European Hernia Society, the Americas Hernia Society, and the Asia Pacific Hernia Society. The clinical scenario for responders was a patient with a unilateral symptomatic inguinal hernia planned for endo-laparoscopic repair with no preoperative symptoms/lump on the contralateral side. Results: A total of 640 surgeons replied (response rate = 26%), of whom 506 were included for analysis. Most surgeons had performed > 300 repairs. The preferred surgical technique was evenly distributed between laparoscopic total extraperitoneal repair and laparoscopic transabdominal preperitoneal repair. In total, 54% preferred to implant a prophylactic mesh on the contralateral side when an occult hernia was found, 47% when a lipoma was found, and 6% when no occult hernia/lipoma was identified. Conclusion: Mesh implementation was preferred by half of the endo-laparoscopic hernia surgeons for a contralateral occult hernia and/or lipoma. Although not supported by strong evidence, mesh implantation on the asymptomatic contralateral side might be cost-effective and perhaps beneficial in the long term but could be offset by increased risk of chronic pain and sexual dysfunction.
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| 41. |
- Monroe, J. Grey, et al.
(författare)
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Mutation bias reflects natural selection in Arabidopsis thaliana
- 2022
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Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 602:7895, s. 101-105
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Tidskriftsartikel (refereegranskat)abstract
- Since the first half of the twentieth century, evolutionary theory has been dominated by the idea that mutations occur randomly with respect to their consequences(1). Here we test this assumption with large surveys of de novo mutations in the plant Arabidopsis thaliana. In contrast to expectations, we find that mutations occur less often in functionally constrained regions of the genome-mutation frequency is reduced by half inside gene bodies and by two-thirds in essential genes. With independent genomic mutation datasets, including from the largest Arabidopsis mutation accumulation experiment conducted to date, we demonstrate that epigenomic and physical features explain over 90% of variance in the genome-wide pattern of mutation bias surrounding genes. Observed mutation frequencies around genes in turn accurately predict patterns of genetic polymorphisms in natural Arabidopsis accessions (r = 0.96). That mutation bias is the primary force behind patterns of sequence evolution around genes in natural accessions is supported by analyses of allele frequencies. Finally, we find that genes subject to stronger purifying selection have a lower mutation rate. We conclude that epigenome-associated mutation bias2 reduces the occurrence of deleterious mutations in Arabidopsis, challenging the prevailing paradigm that mutation is a directionless force in evolution.
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| 42. |
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| 43. |
- Rodriguez Prieto, Juan Manuel, et al.
(författare)
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Numerical Methods for the Modelling of Chip Formation
- 2020
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Ingår i: Archives of Computational Methods in Engineering. - : Springer. - 1134-3060 .- 1886-1784. ; 27:2, s. 387-412
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Tidskriftsartikel (refereegranskat)abstract
- The modeling of metal cutting has proved to be particularly complex due to the diversity of physical phenomena involved, including thermo-mechanical coupling, contact/friction and material failure. During the last few decades, there has been significant progress in the development of numerical methods for modeling machining operations. Furthermore, the most relevant techniques have been implemented in the relevant commercial codes creating tools for the engineers working in the design of processes and cutting devices. This paper presents a review on the numerical modeling methods and techniques used for the simulation of machining processes. The main purpose is to identify the strengths and weaknesses of each method and strategy developed up-to-now. Moreover the review covers the classical Finite Element Method covering mesh-less methods, particle-based methods and different possibilities of Eulerian and Lagrangian approaches.
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| 44. |
- Sanchez-Rodriguez, Lazaro M, et al.
(författare)
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Personalized whole-brain neural mass models reveal combined Aβ and tau hyperexcitable influences in Alzheimer's disease.
- 2024
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Ingår i: Communications biology. - 2399-3642. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Neuronal dysfunction and cognitive deterioration in Alzheimer's disease (AD) are likely caused by multiple pathophysiological factors. However, mechanistic evidence in humans remains scarce, requiring improved non-invasive techniques and integrative models. We introduce personalized AD computational models built on whole-brain Wilson-Cowan oscillators and incorporating resting-state functional MRI, amyloid-β (Aβ) and tau-PET from 132 individuals in the AD spectrum to evaluate the direct impact of toxic protein deposition on neuronal activity. This subject-specific approach uncovers key patho-mechanistic interactions, including synergistic Aβ and tau effects on cognitive impairment and neuronal excitability increases with disease progression. The data-derived neuronal excitability values strongly predict clinically relevant AD plasma biomarker concentrations (p-tau217, p-tau231, p-tau181, GFAP) and grey matter atrophy obtained through voxel-based morphometry. Furthermore, reconstructed EEG proxy quantities show the hallmark AD electrophysiological alterations (theta band activity enhancement and alpha reductions) which occur with Aβ-positivity and after limbic tau involvement. Microglial activation influences on neuronal activity are less definitive, potentially due to neuroimaging limitations in mapping neuroprotective vs detrimental activation phenotypes. Mechanistic brain activity models can further clarify intricate neurodegenerative processes and accelerate preventive/treatment interventions.
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| 45. |
- Sanchez-Rodriguez, Lazaro M, et al.
(författare)
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Revealing the combined roles of Aβ and tau in Alzheimer's disease via a pathophysiological activity decoder.
- 2023
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Ingår i: bioRxiv : the preprint server for biology. - : Cold Spring Harbor Laboratory.
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Neuronal dysfunction and cognitive deterioration in Alzheimer's disease (AD) are likely caused by multiple pathophysiological factors. However, evidence in humans remains scarce, necessitating improved non-invasive techniques and integrative mechanistic models. Here, we introduce personalized brain activity models incorporating functional MRI, amyloid-β (Aβ) and tau-PET from AD-related participants (N=132). Within the model assumptions, electrophysiological activity is mediated by toxic protein deposition. Our integrative subject-specific approach uncovers key patho-mechanistic interactions, including synergistic Aβ and tau effects on cognitive impairment and neuronal excitability increases with disease progression. The data-derived neuronal excitability values strongly predict clinically relevant AD plasma biomarker concentrations (p-tau217, p-tau231, p-tau181, GFAP). Furthermore, our results reproduce hallmark AD electrophysiological alterations (theta band activity enhancement and alpha reductions) which occur with Aβ-positivity and after limbic tau involvement. Microglial activation influences on neuronal activity are less definitive, potentially due to neuroimaging limitations in mapping neuroprotective vs detrimental phenotypes. Mechanistic brain activity models can further clarify intricate neurodegenerative processes and accelerate preventive/treatment interventions.
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| 46. |
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| 47. |
- Schmelzbach, Cedric, et al.
(författare)
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Prestack and poststack migration of crooked-line seismic reflection data : A case study from the South Portuguese Zone fold belt, southwestern Iberia
- 2007
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Ingår i: Geophysics. - : Society of Exploration Geophysicists. - 0016-8033 .- 1942-2156. ; 72:2, s. B9-B18
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Tidskriftsartikel (refereegranskat)abstract
- Crooked-line 2D seismic reflection survey geometries violate underlying assumptions of 2D imaging routines, affecting our ability to resolve the subsurface reliably. We compare three crooked-line imaging schemes involving prestack and poststack time migration using the 2D IBERSEIS deep seismic reflection profile running over the South Portuguese Zone thrust-and-fold belt to obtain crisp high-resolution images of the shallow crust. The crust is characterized by a complex subsurface geometry with conflicting dips of up to 50°. In summary, the three schemes are (1) normal-moveout (NMO) corrections, dip-moveout (DMO) corrections, common-midpoint (CMP) stacking, CMP projection, and poststack time migration; (2) NMO corrections, DMO corrections, CMP projection, zero-offset time migration of the common-offset gathers, and CMP stacking; (3) CMP projection, prestack time migration in the common-offset domain, and CMP stacking. An essential element of all three schemes is a CMP projection routine, projecting the CMPs first binned along individual segments for preprocessing onto one straight line, which is parallel to the general dip direction of the subsurface structures. After CMP projection, the data satisfy the straight-line assumption of 2D imaging routines more closely. We observe that the prestack time-migration scheme yields comparable or more coherent synthetic and field-data images than the other two DMO-based schemes along the parts of the profile where the acquisition overall follows a straight line. However, the schemes involving DMO corrections are less plagued by migration artifacts than the prestack time-migration scheme along profile parts where the acquisition line is crooked. In particular, prominent migration artifacts on the prestack migrated synthetic data can be related to significant variations in source-receiver azimuths for which 2D prestack migration cannot account. Thus, the processing scheme including DMO corrections, CMP projection, and zero-offset migration of common-offset gathers offers a reliable and effective alternative to prestack migration for crooked-line 2D seismic reflection processing.
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| 48. |
- Schmelzbach, Cedric, et al.
(författare)
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Seismic-reflection imaging over the South Portuguese Zone fold-and-thrust belt
- 2008
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 113:B8, s. B08301-
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Tidskriftsartikel (refereegranskat)abstract
- We reprocessed an ∼35-km-long part of the IBESREIS seismic reflection profile which runs over the Iberian Pyrite Belt section of the South Portuguese Zone, SW Iberia, with the goal to image the upper crust (<15-km depth). The applied processing sequence enhanced numerous prominent reflections and diffraction patterns within the uppermost 5-s travel time relative to high-amplitude source-generated noise. A complex subsurface characterized by conflicting dips and a survey following winding roads require a crooked-line prestack migration scheme for coherent imaging. To interpret sources of diffracted energy, we additionally employed a diffraction imaging scheme which enhances diffractions at the expense of reflections.The final seismic images show south-vergent imbricate fold-and-thrust tectonics, documenting the contractive deformation that the South Portuguese Zone experienced during the Variscan Orogeny. Based on surface geological information, we correlate a low reflective unit with the shallow Upper Carboniferous Flysch Group, a highly reflective unit ranging in depth from 2 to 4 km with the Middle Carboniferous Volcano–Sedimentary Complex Group, which hosts massive sulfide deposits, and a moderately reflective unit with the Upper Devonian Phyllite–Quartzite Group. Below these units, another low-reflective facies is present, which may represent older Paleozoic metasediments. In addition, the seismic and diffraction images reveal bands of high reflectivity and distinct diffraction patterns that were interpreted as extensive layered mafic intrusions. These proposed mafic bodies may be related to the same event that triggered a huge hydrothermal activity assumed in Early Carbonifereous times.
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| 49. |
- Schweinsberg, Martin, et al.
(författare)
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Same data, different conclusions : Radical dispersion in empirical results when independent analysts operationalize and test the same hypothesis
- 2021
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Ingår i: Organizational Behavior and Human Decision Processes. - : Elsevier BV. - 0749-5978 .- 1095-9920. ; 165, s. 228-249
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Tidskriftsartikel (refereegranskat)abstract
- In this crowdsourced initiative, independent analysts used the same dataset to test two hypotheses regarding the effects of scientists' gender and professional status on verbosity during group meetings. Not only the analytic approach but also the operationalizations of key variables were left unconstrained and up to individual analysts. For instance, analysts could choose to operationalize status as job title, institutional ranking, citation counts, or some combination. To maximize transparency regarding the process by which analytic choices are made, the analysts used a platform we developed called DataExplained to justify both preferred and rejected analytic paths in real time. Analyses lacking sufficient detail, reproducible code, or with statistical errors were excluded, resulting in 29 analyses in the final sample. Researchers reported radically different analyses and dispersed empirical outcomes, in a number of cases obtaining significant effects in opposite directions for the same research question. A Boba multiverse analysis demonstrates that decisions about how to operationalize variables explain variability in outcomes above and beyond statistical choices (e.g., covariates). Subjective researcher decisions play a critical role in driving the reported empirical results, underscoring the need for open data, systematic robustness checks, and transparency regarding both analytic paths taken and not taken. Implications for orga-nizations and leaders, whose decision making relies in part on scientific findings, consulting reports, and internal analyses by data scientists, are discussed.
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| 50. |
- Simancas, J. F., et al.
(författare)
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Crustal structure of the transpressional Variscan orogen of SW Iberia : SW Iberia deep seismic reflection profile (IBERSEIS)
- 2003
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Ingår i: Tectonics. - : AGU. - 0278-7407 .- 1944-9194. ; 22, s. 1062-
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Tidskriftsartikel (refereegranskat)abstract
- IBERSEIS, a 303 km long (20 s) deep seismic reflection profile, was acquired across the Variscan belt in SW Iberian Peninsula. The acquisition parameters were designed to obtain a high-resolution crustal-scale image of this orogen. The seismic profile samples three major tectonic terranes: the South Portuguese Zone, the Ossa-Morena Zone, and the Central Iberian Zone, which were accreted in Late Paleozoic times. These terranes show a distinctive seismic signature, as do the sutures separating them. Late strike-slip movements through crustal wedges are apparent in the seismic image and have strongly modified the geometry of sutures. The upper crust appears to be decoupled from the lower crust all along the seismic line, but some deformation has been accommodated at deeper levels. A sill-like structure is imaged in the middle crust as a 1–2 s thick and 175 km long high-amplitude conspicuous reflective band. It is interpreted as a great intrusion of mafic magma in a midcrustal decollement. Taking into account surface geological data and the revealed crustal architecture, a tectonic evolution is proposed for SW Iberia which includes transpressional collision interacting during Early Carboniferous with a mantle plume. The Moho can be identified along the entire transect as subhorizontal and located at 10 to 11 s, indicating a 30–35 km average crustal thickness. Its seismic signature changes laterally, being very reflective beneath the South Portuguese Zone and the Central Iberian Zone, but discontinuous and diffuse below the Ossa Morena Zone.
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