| 1. |
- Glasbey, JC, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 2. |
- Bravo, L, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 3. |
- Tabiri, S, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 4. |
- Khatri, C, et al.
(författare)
-
Outcomes after perioperative SARS-CoV-2 infection in patients with proximal femoral fractures: an international cohort study
- 2021
-
Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:11, s. e050830-
-
Tidskriftsartikel (refereegranskat)abstract
- Studies have demonstrated high rates of mortality in people with proximal femoral fracture and SARS-CoV-2, but there is limited published data on the factors that influence mortality for clinicians to make informed treatment decisions. This study aims to report the 30-day mortality associated with perioperative infection of patients undergoing surgery for proximal femoral fractures and to examine the factors that influence mortality in a multivariate analysis.SettingProspective, international, multicentre, observational cohort study.ParticipantsPatients undergoing any operation for a proximal femoral fracture from 1 February to 30 April 2020 and with perioperative SARS-CoV-2 infection (either 7 days prior or 30-day postoperative).Primary outcome30-day mortality. Multivariate modelling was performed to identify factors associated with 30-day mortality.ResultsThis study reports included 1063 patients from 174 hospitals in 19 countries. Overall 30-day mortality was 29.4% (313/1063). In an adjusted model, 30-day mortality was associated with male gender (OR 2.29, 95% CI 1.68 to 3.13, p<0.001), age >80 years (OR 1.60, 95% CI 1.1 to 2.31, p=0.013), preoperative diagnosis of dementia (OR 1.57, 95% CI 1.15 to 2.16, p=0.005), kidney disease (OR 1.73, 95% CI 1.18 to 2.55, p=0.005) and congestive heart failure (OR 1.62, 95% CI 1.06 to 2.48, p=0.025). Mortality at 30 days was lower in patients with a preoperative diagnosis of SARS-CoV-2 (OR 0.6, 95% CI 0.6 (0.42 to 0.85), p=0.004). There was no difference in mortality in patients with an increase to delay in surgery (p=0.220) or type of anaesthetic given (p=0.787).ConclusionsPatients undergoing surgery for a proximal femoral fracture with a perioperative infection of SARS-CoV-2 have a high rate of mortality. This study would support the need for providing these patients with individualised medical and anaesthetic care, including medical optimisation before theatre. Careful preoperative counselling is needed for those with a proximal femoral fracture and SARS-CoV-2, especially those in the highest risk groups.Trial registration numberNCT04323644
|
|
| 5. |
- Ruilope, LM, et al.
(författare)
-
Design and Baseline Characteristics of the Finerenone in Reducing Cardiovascular Mortality and Morbidity in Diabetic Kidney Disease Trial
- 2019
-
Ingår i: American journal of nephrology. - : S. Karger AG. - 1421-9670 .- 0250-8095. ; 50:5, s. 345-356
-
Tidskriftsartikel (refereegranskat)abstract
- <b><i>Background:</i></b> Among people with diabetes, those with kidney disease have exceptionally high rates of cardiovascular (CV) morbidity and mortality and progression of their underlying kidney disease. Finerenone is a novel, nonsteroidal, selective mineralocorticoid receptor antagonist that has shown to reduce albuminuria in type 2 diabetes (T2D) patients with chronic kidney disease (CKD) while revealing only a low risk of hyperkalemia. However, the effect of finerenone on CV and renal outcomes has not yet been investigated in long-term trials. <b><i>Patients and</i></b> <b><i>Methods:</i></b> The Finerenone in Reducing CV Mortality and Morbidity in Diabetic Kidney Disease (FIGARO-DKD) trial aims to assess the efficacy and safety of finerenone compared to placebo at reducing clinically important CV and renal outcomes in T2D patients with CKD. FIGARO-DKD is a randomized, double-blind, placebo-controlled, parallel-group, event-driven trial running in 47 countries with an expected duration of approximately 6 years. FIGARO-DKD randomized 7,437 patients with an estimated glomerular filtration rate ≥25 mL/min/1.73 m<sup>2</sup> and albuminuria (urinary albumin-to-creatinine ratio ≥30 to ≤5,000 mg/g). The study has at least 90% power to detect a 20% reduction in the risk of the primary outcome (overall two-sided significance level α = 0.05), the composite of time to first occurrence of CV death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for heart failure. <b><i>Conclusions:</i></b> FIGARO-DKD will determine whether an optimally treated cohort of T2D patients with CKD at high risk of CV and renal events will experience cardiorenal benefits with the addition of finerenone to their treatment regimen. Trial Registration: EudraCT number: 2015-000950-39; ClinicalTrials.gov identifier: NCT02545049.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Aprile, E., et al.
(författare)
-
The XENON1T dark matter experiment
- 2017
-
Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:12
-
Tidskriftsartikel (refereegranskat)abstract
- The XENON1T experiment at the Laboratori Nazionali del Gran Sasso (LNGS) is the first WIMP dark matter detector operating with a liquid xenon target mass above the ton-scale. Out of its 3.2t liquid xenon inventory, 2.0t constitute the active target of the dual-phase time projection chamber. The scintillation and ionization signals from particle interactions are detected with low-background photomultipliers. This article describes the XENON1T instrument and its subsystems as well as strategies to achieve an unprecedented low background level. First results on the detector response and the performance of the subsystems are also presented.
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
- Abreu, Soraia Carvalho, et al.
(författare)
-
Lung Inflammatory Environments Differentially Alter Mesenchymal Stromal Cell Behavior
- 2019
-
Ingår i: American Journal of Physiology: Lung Cellular and Molecular Physiology. - : American Physiological Society. - 1522-1504 .- 1040-0605. ; 317:6, s. 823-831
-
Tidskriftsartikel (refereegranskat)abstract
- Mesenchymal stromal (stem) cells (MSCs) are increasingly demonstrated to ameliorate experimentally-induced lung injuries through disease-specific anti-inflammatory actions, thus suggesting that different in vivo inflammatory environments can influence MSC actions. To determine the effects of different representative inflammatory lung conditions, human bone marrow-derived MSCs (hMSCs) were exposed to in vitro culture conditions from bronchoalveolar lavage fluid (BALF) samples obtained from patients with either the acute respiratory distress syndrome (ARDS) or with other lung diseases including acute respiratory exacerbations of cystic fibrosis (CF) (non-ARDS). hMSCs were subsequently assessed for time- and BALF concentration-dependent effects on mRNA expression of selected pro- and anti-inflammatory mediators, and for overall patterns of gene and mRNA expression. Both common and disease specific-patterns were observed in gene expression of different hMSC mediators, notably interleukin (IL)-6. Conditioned media obtained from non-ARDS BALF-exposed hMSCs was more effective in promoting an anti-inflammatory phenotype in monocytes than was conditioned media from ARDS BALF-exposed hMSCs. Neutralizing IL-6 in the conditioned media promoted generation of anti-inflammatory monocyte phenotype. These results demonstrated that different lung inflammatory environments differentially alter hMSC behavior. Further identification of these interactions and the driving mechanisms may influence clinical use of MSCs for treating lung diseases.
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
|
|
| 18. |
- Abila, R., et al.
(författare)
-
Oil extraction imperils Africa’s Great Lakes
- 2016
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 354:6312, s. 561-562
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- As the world's demands for hydrocarbons increase (1), remote areas previously made inaccessible by technological limitations are now being prospected for oil and gas deposits. Virtually unnoticed by the public, such activities are ongoing in the East African Great Lakes region, threatening these ecosystems famed for their hyper-diverse biota, including the unique adaptive radiations of cichlid fishes (2). Countries in the region see exploitation of hydrocarbon reserves as a vital economic opportunity. In the Lake Albert region of Uganda, for example, the government foresees a $3.6 billion oil profit per year starting in 2018—a sum almost as high as the country's current annual budget (3). However, oil extraction in the East African Great Lakes region poses grave risks to the environment and local communities.
|
|
| 19. |
- Barnett, Ross, et al.
(författare)
-
Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens
- 2020
-
Ingår i: Current Biology. - 0960-9822 .- 1879-0445.
-
Tidskriftsartikel (refereegranskat)abstract
- Summary Homotherium was a genus of large-bodied scimitar-toothed cats, morphologically distinct from any extant felid species, that went extinct at the end of the Pleistocene [1, 2, 3, 4]. They possessed large, saber-form serrated canine teeth, powerful forelimbs, a sloping back, and an enlarged optic bulb, all of which were key characteristics for predation on Pleistocene megafauna [5]. Previous mitochondrial DNA phylogenies suggested that it was a highly divergent sister lineage to all extant cat species [6, 7, 8]. However, mitochondrial phylogenies can be misled by hybridization [9], incomplete lineage sorting (ILS), or sex-biased dispersal patterns [10], which might be especially relevant for Homotherium since widespread mito-nuclear discrepancies have been uncovered in modern cats [10]. To examine the evolutionary history of Homotherium, we generated a ∼7x nuclear genome and a ∼38x exome from H. latidens using shotgun and target-capture sequencing approaches. Phylogenetic analyses reveal Homotherium as highly divergent (∼22.5 Ma) from living cat species, with no detectable signs of gene flow. Comparative genomic analyses found signatures of positive selection in several genes, including those involved in vision, cognitive function, and energy consumption, putatively consistent with diurnal activity, well-developed social behavior, and cursorial hunting [5]. Finally, we uncover relatively high levels of genetic diversity, suggesting that Homotherium may have been more abundant than the limited fossil record suggests [3, 4, 11, 12, 13, 14]. Our findings complement and extend previous inferences from both the fossil record and initial molecular studies, enhancing our understanding of the evolution and ecology of this remarkable lineage.
|
|
| 20. |
|
|
| 21. |
|
|
| 22. |
- Grewling, L., et al.
(författare)
-
Outdoor airborne allergens: Characterization, behavior and monitoring in Europe
- 2023
-
Ingår i: SCIENCE OF THE TOTAL ENVIRONMENT. - 0048-9697. ; 905
-
Tidskriftsartikel (refereegranskat)abstract
- Aeroallergens or inhalant allergens, are proteins dispersed through the air and have the potential to induce allergic conditions such as rhinitis, conjunctivitis, and asthma. Outdoor aeroallergens are found predominantly in pollen grains and fungal spores, which are allergen carriers. Aeroallergens from pollen and fungi have seasonal emission patterns that correlate with plant pollination and fungal sporulation and are strongly associated with atmospheric weather conditions. They are released when allergen carriers come in contact with the respiratory system, e.g. the nasal mucosa. In addition, due to the rupture of allergen carriers, airborne allergen molecules may be released directly into the air in the form of micronic and submicronic particles (cytoplasmic debris, cell wall fragments, droplets etc.) or adhered onto other airborne particulate matter. Therefore, aeroallergen detection strategies must consider, in addition to the allergen carriers, the allergen molecules themselves. This review article aims to present the current knowledge on inhalant allergens in the outdoor environment, their structure, localization, and factors affecting their production, transformation, release or degradation. In addition, methods for collecting and quantifying aeroallergens are listed and thoroughly discussed. Finally, the knowledge gaps, challenges and implications associated with aeroallergen analysis are described.
|
|
| 23. |
- In ’t Veld, Sjors G.J.G., et al.
(författare)
-
Detection and localization of early- and late-stage cancers using platelet RNA
- 2022
-
Ingår i: Cancer Cell. - : Elsevier. - 1535-6108 .- 1878-3686. ; 40:9, s. 999-1009.e6
-
Tidskriftsartikel (refereegranskat)abstract
- Cancer patients benefit from early tumor detection since treatment outcomes are more favorable for less advanced cancers. Platelets are involved in cancer progression and are considered a promising biosource for cancer detection, as they alter their RNA content upon local and systemic cues. We show that tumor-educated platelet (TEP) RNA-based blood tests enable the detection of 18 cancer types. With 99% specificity in asymptomatic controls, thromboSeq correctly detected the presence of cancer in two-thirds of 1,096 blood samples from stage I–IV cancer patients and in half of 352 stage I–III tumors. Symptomatic controls, including inflammatory and cardiovascular diseases, and benign tumors had increased false-positive test results with an average specificity of 78%. Moreover, thromboSeq determined the tumor site of origin in five different tumor types correctly in over 80% of the cancer patients. These results highlight the potential properties of TEP-derived RNA panels to supplement current approaches for blood-based cancer screening.
|
|
| 24. |
|
|
| 25. |
|
|
| 26. |
|
|
| 27. |
- Wijns, W, et al.
(författare)
-
Myocardial revascularization
- 2011
-
Ingår i: REVISTA PORTUGUESA DE CARDIOLOGIA. - : Elsevier BV. - 0870-2551 .- 2174-2049. ; 30:12, s. 951-1005
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 28. |
|
|
| 29. |
- Antonelli, Alexandre, 1978, et al.
(författare)
-
Amazonia is the primary source of Neotropical biodiversity
- 2018
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424. ; 115:23, s. 6034-6039
-
Tidskriftsartikel (refereegranskat)abstract
- The American tropics (the Neotropics) are the most species-rich realm on Earth, and for centuries, scientists have attempted to understand the origins and evolution of their biodiversity. It is now clear that different regions and taxonomic groups have responded differently to geological and climatic changes. However, we still lack a basic understanding of how Neotropical biodiversity was assembled over evolutionary timescales. Here we infer the timing and origin of the living biota in all major Neotropical regions by performing a cross-taxonomic biogeographic analysis based on 4,450 species from six major clades across the tree of life (angiosperms, birds, ferns, frogs, mammals, and squamates), and integrate > 1.3 million species occurrences with large-scale phylogenies. We report an unprecedented level of biotic interchange among all Neotropical regions, totaling 4,525 dispersal events. About half of these events involved transitions between major environmental types, with a predominant directionality from forested to open biomes. For all taxonomic groups surveyed here, Amazonia is the primary source of Neotropical diversity, providing > 2,800 lineages to other regions. Most of these dispersal events were to Mesoamerica (similar to 1,500 lineages), followed by dispersals into open regions of northern South America and the Cerrado and Chaco biomes. Biotic interchange has taken place for > 60 million years and generally increased toward the present. The total amount of time lineages spend in a region appears to be the strongest predictor of migration events. These results demonstrate the complex origin of tropical ecosystems and the key role of biotic interchange for the assembly of regional biotas.
|
|
| 30. |
- Balaghi I., M. H., et al.
(författare)
-
An Optimal LQG Controller for Stochastic Event-triggered Scheduling over a Lossy Communication Network
- 2018
-
Ingår i: IFAC-PapersOnLine. - : Elsevier. - 2405-8963. ; 51:23, s. 58-63
-
Tidskriftsartikel (refereegranskat)abstract
- We consider a networked control loop in which the sensors acquire partial state information and communicate to a remote controller through a lossy communication network. A scheduler, collocated with the sensors, decides to transmit a locally estimated state to the controller based on an event-triggered transmission policy with stochastic thresholds. Assuming that the local estimator either senses the communication channel or receives an ideal acknowledgment from the remote estimator, then the optimal control law can be shown to be a linear function of the conditional expectation of the state. However, the probability distribution of the state conditioned on the information available to the controller based on the mentioned transmission policy and network is not Gaussian, but rather described by a sum of Gaussians with an increasing number of terms at every time-step. We show that the optimal LQG control law can be determined without tracking this probability distribution for finding its expected value. Moreover, we establish that the stochastic event-triggered scheduler can be appropriately regulated in order to achieve a desired triggering probability at every time-step.
|
|
| 31. |
- Balaghi I., M. H., et al.
(författare)
-
Decentralized LQ-Consistent Event-triggered Control over a Shared Contention-based Network
- 2022
-
Ingår i: IEEE Transactions on Automatic Control. - : Institute of Electrical and Electronics Engineers (IEEE). - 0018-9286 .- 1558-2523. ; 67:3, s. 1430-1437
-
Tidskriftsartikel (refereegranskat)abstract
- Consider a network of multiple independent stochas-tic linear systems where, for each system, a scheduler collocatedwith the sensors arbitrates data transmissions to a correspondingremote controller through a shared contention-based communi-cation network. While the systems are physically independent,their optimal controller design problems may, in general, becomecoupled, due to network contention, if the schedulers triggertransmissions based on state-dependent events. In this article wepropose a class of probabilistic admissible schedulers for whichthe optimal controllers, with respect to local standard LQG costs,have the certainty equivalence property and can still be determineddecentrally. Then, two subclasses of scheduling policies withinthis class are introduced; a non-event-based subclass, so calledpurely stochastic transmission (PST) policy, and an event-basedsubclass, both with easily adjustable triggering probabilities atevery time step. We then prove that, given a PST policy withgiven triggering probabilities and an associated closed-loop per-formance with optimal control law, we can find an event-basedscheduler from the proposed subclass and with the same trigger-ing probabilities for which the associated closed-loop performancewith optimal control law is strictly superior. Moreover, we showthat, for each closed-loop system, the optimal state estimatorsfor both scheduling policies follows a linear iteration. Finally, weprovide a method to regulate the triggering probabilities of theschedulers by maximizing a network utility function.
|
|
| 32. |
|
|
| 33. |
|
|
| 34. |
- Bentley, Blair P., et al.
(författare)
-
Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories
- 2023
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences (PNAS). - 0027-8424 .- 1091-6490. ; 120:7
-
Tidskriftsartikel (refereegranskat)abstract
- Sea turtles represent an ancient lineage of marine vertebrates that evolved from terrestrial ancestors over 100 Mya. The genomic basis of the unique physiological and ecological traits enabling these species to thrive in diverse marine habitats remains largely unknown. Additionally, many populations have drastically declined due to anthropogenic activities over the past two centuries, and their recovery is a high global conservation priority. We generated and analyzed high-quality reference genomes for the leatherback (Dermochelys coriacea) and green (Chelonia mydas) turtles, representing the two extant sea turtle families. These genomes are highly syntenic and homologous, but localized regions of noncollinearity were associated with higher copy numbers of immune, zinc-finger, and olfactory receptor (OR) genes in green turtles, with ORs related to waterborne odorants greatly expanded in green turtles. Our findings suggest that divergent evolution of these key gene families may underlie immunological and sensory adaptations assisting navigation, occupancy of neritic versus pelagic environments, and diet specialization. Reduced collinearity was especially prevalent in microchromosomes, with greater gene content, heterozygosity, and genetic distances between species, supporting their critical role in vertebrate evolutionary adaptation. Finally, diversity and demographic histories starkly contrasted between species, indicating that leatherback turtles have had a low yet stable effective population size, exhibit extremely low diversity compared with other reptiles, and harbor a higher genetic load compared with green turtles, reinforcing concern over their persistence under future climate scenarios. These genomes provide invaluable resources for advancing our understanding of evolution and conservation best practices in an imperiled vertebrate lineage.
|
|
| 35. |
- Correia, M., et al.
(författare)
-
Early plasma biomarker dynamic profiles are associated with acute ischemic stroke outcomes
- 2022
-
Ingår i: European Journal of Neurology. - : Wiley. - 1351-5101 .- 1468-1331. ; 29:6, s. 1630-1642
-
Tidskriftsartikel (refereegranskat)abstract
- Background Early outcome prediction after acute ischemic stroke (AIS) might be improved with blood-based biomarkers. We investigated whether the longitudinal profile of a multi-marker panel could predict the outcome of successfully recanalized AIS patients. Methods We used ultrasensitive single-molecule array (Simoa) to measure glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), total-tau (t-tau) and ELISA for brevican in a prospective study of AIS patients with anterior circulation large vessel occlusion successfully submitted to thrombectomy. Plasma was obtained at admission, upon treatment, 24 h and 72 h after treatment. Clinical and neuroimaging outcomes were assessed independently. Results Thirty-five patients (64.8%) had good early clinical or neuroimaging outcome. Baseline biomarker levels did not distinguish between outcomes. However, longitudinal intra-individual biomarker changes followed different dynamic profiles with time and according to outcome. GFAP levels exhibited an early and prominent increase between admission and just after treatment. NfL increase was less pronounced between admission and up to 24 h. T-tau increased between treatment and 24 h. Interestingly, GFAP rate-of-change (pg/ml/h) between admission and immediately after recanalization had a good discriminative capacity between clinical outcomes (AUC = 0.88, p < 0.001), which was higher than admission CT-ASPECTS (AUC = 0.75, p < 0.01). T-tau rate-of-change provided moderate discriminative capacity (AUC = 0.71, p < 0.05). Moreover, in AIS patients with admission CT-ASPECTS <9 both GFAP and NfL rate-of-change were good outcome predictors (AUC = 0.82 and 0.77, p < 0.05). Conclusion Early GFAP, t-tau and NfL rate-of-change in plasma can predict AIS clinical and neuroimaging outcome after successful recanalization. Such dynamic measures match and anticipate neuroimaging predictive capacity, potentially improving AIS patient stratification for treatment, and targeting individualized stroke care.
|
|
| 36. |
- Fernandes, Elsa C Antunes, et al.
(författare)
-
Activation and potentiation of human GABAA receptors by non-dioxin-like PCBs depends on chlorination pattern
- 2010
-
Ingår i: Toxicological Sciences. - : Oxford University Press (OUP). - 1096-6080 .- 1096-0929. ; 118:1, s. 183-90
-
Tidskriftsartikel (refereegranskat)abstract
- The neurotoxic potential of non-dioxin-like polychlorinated biphenyls (NDL-PCBs) is characterized by disruption of presynaptic processes, including calcium homeostasis and neurotransmitter transport. Recently, using a limited set of congeners, we demonstrated that PCB28 and PCB52 can potentiate postsynaptic GABA(A) receptors. In the present study, effects of 20 NDL-PCBs and 2 dioxin-like PCBs, selected based on their chemical variation and abundance in the environment, on human GABA(A) receptors were investigated. GABA(A) receptors were expressed in Xenopus oocytes, and NDL-PCB effects were determined using the two-electrode voltage-clamp technique. Results demonstrate that lower chlorinated PCB19, PCB28, PCB47, PCB51, PCB52, PCB95, and PCB100 act as a partial agonists (at low receptor occupancy), i.e., potentiating the receptor response during coapplication with GABA (at EC(20)). Importantly, PCB19, PCB47, PCB51, and PCB100 can also act as full agonist, i.e., activate the GABA(A) receptor in the absence of GABA. Potentiation and activation of the GABA(A) receptor is concentration dependent and limited to NDL-PCBs that have 3-5 chlorine atoms, 1-3 ortho-substitutions, an equal number (0-1) of meta-substitutions on both phenyl rings, and do not have an adjacent para- and meta-substitution on the same phenyl ring. Activation and potentiation of the GABA(A) receptor by PCB47, the most potent congener (lowest observed effect concentration of 10nM), is attenuated when coapplied with PCB19, PCB28, PCB153, or PCB180, indicative for competitive binding. Considering the importance of GABA-ergic signaling for brain development, motor coordination, learning, and memory, this mode of action can contribute to the previously observed NDL-PCB-induced neurobehavioral and neurodevelopmental effects and should be included in human risk assessment.
|
|
| 37. |
|
|
| 38. |
- Kohl, S, et al.
(författare)
-
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- 2005
-
Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
-
Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
|
|
| 39. |
- Papadopoulos, K., et al.
(författare)
-
A revisit of action detection using improved trajectories
- 2018
-
Ingår i: ICASSP, IEEE International Conference on Acoustics, Speech and Signal Processing - Proceedings. - : Institute of Electrical and Electronics Engineers (IEEE). ; , s. 2067-2071
-
Konferensbidrag (refereegranskat)abstract
- In this paper, we revisit trajectory-based action detection in a potent and non-uniform way. Improved trajectories have been proven to be an effective model for motion description in action recognition. In temporal action localization, however, this approach is not efficiently exploited. Trajectory features extracted from uniform video segments result in significant performance degradation due to two reasons: (a) during uniform segmentation, a significant amount of noise is often added to the main action and (b) partial actions can have negative impact in classifier's performance. Since uniform video segmentation seems to be insufficient for this task, we propose a two-step supervised non-uniform segmentation, performed in an online manner. Action proposals are generated using either 2D or 3D data, therefore action classification can be directly performed on them using the standard improved trajectories approach. We experimentally compare our method with other approaches and we show improved performance on a challenging online action detection dataset.
|
|
| 40. |
- Papadopoulos, K., et al.
(författare)
-
Enhanced trajectory-based action recognition using human pose
- 2018
-
Ingår i: Proceedings - International Conference on Image Processing, ICIP. - : Institute of Electrical and Electronics Engineers (IEEE). ; , s. 1807-1811
-
Konferensbidrag (refereegranskat)abstract
- Action recognition using dense trajectories is a popular concept. However, many spatio-temporal characteristics of the trajectories are lost in the final video representation when using a single Bag-of-Words model. Also, there is a significant amount of extracted trajectory features that are actually irrelevant to the activity being analyzed, which can considerably degrade the recognition performance. In this paper, we propose a human-tailored trajectory extraction scheme, in which trajectories are clustered using information from the human pose. Two configurations are considered; first, when exact skeleton joint positions are provided, and second, when only an estimate thereof is available. In both cases, the proposed method is further strengthened by using the concept of local Bag-of-Words, where a specific codebook is generated for each skeleton joint group. This has the advantage of adding spatial human pose awareness in the video representation, effectively increasing its discriminative power. We experimentally compare the proposed method with the standard dense trajectories approach on two challenging datasets.
|
|
| 41. |
- Papadopoulos, K., et al.
(författare)
-
Localized trajectories for 2D and 3D action recognition
- 2019
-
Ingår i: Sensors. - : MDPI AG. - 1424-8220. ; 19:16
-
Tidskriftsartikel (refereegranskat)abstract
- The Dense Trajectories concept is one of the most successful approaches in action recognition, suitable for scenarios involving a significant amount of motion. However, due to noise and background motion, many generated trajectories are irrelevant to the actual human activity and can potentially lead to performance degradation. In this paper, we propose Localized Trajectories as an improved version of Dense Trajectories where motion trajectories are clustered around human body joints provided by RGB-D cameras and then encoded by local Bag-of-Words. As a result, the Localized Trajectories concept provides an advanced discriminative representation of actions. Moreover, we generalize Localized Trajectories to 3D by using the depth modality. One of the main advantages of 3D Localized Trajectories is that they describe radial displacements that are perpendicular to the image plane. Extensive experiments and analysis were carried out on five different datasets.
|
|
| 42. |
- Papastavrou, Evridiki, et al.
(författare)
-
A seven country comparison of nurses' perceptions of their professional practice environment
- 2012
-
Ingår i: Journal of Nursing Management. - : Blackwell Munksgaard. - 0966-0429 .- 1365-2834. ; 20:2, s. 236-248
-
Tidskriftsartikel (refereegranskat)abstract
- Aims - To describe and compare nurses’ perceptions of their professional practice environment in seven countries. Background - There is evidence of variation in the nursing professional practice environments internationally. These different work environments affect nurses’ ability to perform and are linked to differing nurse and patient outcomes. Methods - A descriptive, comparative survey was used to collect data from orthopaedic and trauma nurses (n = 1156) in Finland, Cyprus, Greece, Portugal, Sweden, Turkey and Kansas, USA using the 39-item Revised Professional Practice Environment instrument. Results - Differences were found between participants from the northern countries of Europe, Kansas, USA, and the Mediterranean countries regarding perceptions about control over practice. No between-country differences were reported in the internal work motivation among the nurses from any of the participating countries. Conclusions - Although between-country differences in nurses’ professional practice environment were found, difficulties related to demographic, cultural and health system differences and the way in which nursing is defined in each country need to be considered in the interpretation of the results. Implications for Nursing Management - The results support investment to improve nurse’s work environment, which is important for improving the quality of patient care, optimizing patient outcomes and developing the nursing workforce.
|
|
| 43. |
- Papastavrou, Evridiki, et al.
(författare)
-
A seven country comparison of nurses’ perceptions of their professional practise environment
- 2012
-
Ingår i: Journal of Nursing Management. - 0966-0429 .- 1365-2834. ; 20:2, s. 236-248
-
Tidskriftsartikel (refereegranskat)abstract
- Aims To describe and compare nurses’ perceptions of their professional practice environment in seven countries.Background There is evidence of variation in the nursing professional practice environments internationally. These different work environments affect nurses’ ability to perform and are linked to differing nurse and patient outcomes.Methods A descriptive, comparative survey was used to collect data from orthopaedic and trauma nurses (n = 1156) in Finland, Cyprus, Greece, Portugal, Sweden, Turkey and Kansas, USA using the 39-item Revised Professional Practice Environment instrument.Results Differences were found between participants from the northern countries of Europe, Kansas, USA, and the Mediterranean countries regarding perceptions about control over practice. No between-country differences were reported in the internal work motivation among the nurses from any of the participating countries.Conclusions Although between-country differences in nurses’ professional practice environment were found, difficulties related to demographic, cultural and health system differences and the way in which nursing is defined in each country need to be considered in the interpretation of the results.Implications for Nursing Management The results support investment to improve nurse’s work environment, which is important for improving the quality of patient care, optimizing patient outcomes and developing the nursing workforce.
|
|
| 44. |
|
|
| 45. |
|
|
| 46. |
- Suhonen, Riitta, et al.
(författare)
-
Nurses' perceptions of individualized care : an international comparison
- 2011
-
Ingår i: Journal of Advanced Nursing. - : Blackwell Munksgaard. - 0309-2402 .- 1365-2648. ; 67:9, s. 1895-1907
-
Tidskriftsartikel (refereegranskat)abstract
- Aim. This paper is a report of a study of internationally-based differences in nurses' perceptions of individualized care in orthopaedic surgical in-patient wards. Background. Individualized care is valued in healthcare policy, practice and ethical statements as an indicator of care quality. However, nurses' assessments of individualized care are limited and comparative cross-cultural studies on individualized nursing care are lacking. Methods. A descriptive comparative survey was used to sample orthopaedic surgical nurses (n = 1163) working in 91 inpatient wards in 34 acute hospitals in Finland, Cyprus, Greece, Portugal, Sweden, Turkey and the United States of America. Data were collected between March and November 2009 using the Individualized Care Scale-Nurse and analysed using descriptive and inferential statistics. Results. Nurses in different countries perceived that they supported patients' individuality generally and provided individualized care during nursing activities. Although the highest scores were in support of patients' individuality in the clinical situation both through nursing provision and nurses' perceptions of individuality, there were between-country differences within these scores. Generally, the Greek and American nurses gave the highest scores and the Turkish, Cypriot and Portuguese nurses the lowest. Conclusions. Between-country differences found may be attributed to differing roles of nurses, care processes, healthcare systems and/or the ways nursing care is defined and organized. As this was the first time the Individualized Care Scale-Nurse was used in an international context, the results are formative and indicate the need to continue studies in this area.
|
|
| 47. |
|
|
| 48. |
|
|
| 49. |
- Zhang, Guojie, et al.
(författare)
-
Comparative genomics reveals insights into avian genome evolution and adaptation
- 2014
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 346:6215, s. 1311-1320
-
Tidskriftsartikel (refereegranskat)abstract
- Birds are the most species-rich class of tetrapod vertebrates and have wide relevance across many research fields. We explored bird macroevolution using full genomes from 48 avian species representing all major extant clades. The avian genome is principally characterized by its constrained size, which predominantly arose because of lineage-specific erosion of repetitive elements, large segmental deletions, and gene loss. Avian genomes furthermore show a remarkably high degree of evolutionary stasis at the levels of nucleotide sequence, gene synteny, and chromosomal structure. Despite this pattern of conservation, we detected many non-neutral evolutionary changes in protein-coding genes and noncoding regions. These analyses reveal that pan-avian genomic diversity covaries with adaptations to different lifestyles and convergent evolution of traits.
|
|
