2,742 research outputs found
Dimerisation of Fe bisdithiolene complexes; An electrochemical study
ArticleAn electrochemical study of the dimerisation of the [Fe(qdt)2]22− and [Fe(mnt)2]22− iron complexes in dichloromethane, dimethylformamide and acetonitrile, by cyclic voltammetry and ionic conductivity is reported. Ionic conductivity measurements indicate an increased dissociation of the dimers in dimethylformamide and acetonitrile compared to dichloromethane. In [Fe(mnt)2] in dichloromethane, only dimer oxidation processes are observed in cyclic voltammetry, while in [Fe(qdt)2] both dimeric and monomeric species are involved in redox processes. In acetonitrile and DMF the observed processes correspond to the dissociated monomeric species only. This study demonstrates the major role of the nature of the solvent in the monomer/dimer equilibrium in solution, which appears more easily shifted towards dissociation in the complex with qdt ligands than with mnt and is favoured by N- and O-containing solvents.This work was partially supported FCT (Portugal) through contracts PTDC/QUI/101788/2008 and PTDC/QEQ-SUP/1413/2012
Model specification and the reliability of fMRI results: Implications for longitudinal neuroimaging studies in psychiatry
Functional Magnetic Resonance Imagine (fMRI) is an important assessment tool in longitudinal studies of mental illness and its treatment. Understanding the psychometric properties of fMRI-based metrics, and the factors that influence them, will be critical for properly interpreting the results of these efforts. The current study examined whether the choice among alternative model specifications affects estimates of test-retest reliability in key emotion processing regions across a 6-month interval. Subjects (N = 46) performed an emotional-faces paradigm during fMRI in which neutral faces dynamically morphed into one of four emotional faces. Median voxelwise intraclass correlation coefficients (mvICCs) were calculated to examine stability over time in regions showing task-related activity as well as in bilateral amygdala. Four modeling choices were evaluated: a default model that used the canonical hemodynamic response function (HRF), a flexible HRF model that included additional basis functions, a modified CompCor (mCompCor) model that added corrections for physiological noise in the global signal, and a final model that combined the flexible HRF and mCompCor models. Model residuals were examined to determine the degree to which each pipeline met modeling assumptions. Results indicated that the choice of modeling approaches impacts both the degree to which model assumptions are met and estimates of test-retest reliability. ICC estimates in the visual cortex increased from poor (mvICC = 0.31) in the default pipeline to fair (mvICC = 0.45) in the full alternative pipeline - an increase of 45%. In nearly all tests, the models with the fewest assumption violations generated the highest ICC estimates. Implications for longitudinal treatment studies that utilize fMRI are discussed. © 2014 Fournier et al
Factor V Leiden and Prothrombin G20210A in Portuguese Women with Recurrent Miscarriage: Is it Worthwhile to Investigate?
OBJECTIVE: To compare the prevalence of factor V Leiden (FVL) and prothrombin (PT) G20210A mutations in Portuguese women with unexplained recurrent miscarriage (RM) and a control group of parous women.
MATERIALS AND METHODS: FVL and PT G20210A analysis were carried out in 100 women with three or more consecutive miscarriages and 100 controls with no history of pregnancy losses. Secondary analysis was made regarding gestational age at miscarriage (embryonic and fetal losses).
RESULTS: Overall, the prevalence of FVL and PT G20210A was similar in women with RM (5 and 3%) compared with controls (5 and 1%) OR 1.36 (CI 95% 0.45-4.08). In RM embryonic subgroup, PT G20210A was observed in 1.3% of women and FVL prevalence (2.6%) was inclusively lesser than that of controls. Both polymorphisms were more prevalent in women with fetal losses than in controls, although statistical significance was not reached due to the small size of the >10 weeks' subgroup.
CONCLUSION: These data indicate that neither FVL nor PT G20210A is associated with RM prior to 10 weeks of gestation. Therefore, its screening is not indicated as an initial approach in Portuguese women with embryonic RM and negative personal thromboembolic history
Quantum networks reveal quantum nonlocality
The results of local measurements on some composite quantum systems cannot be
reproduced classically. This impossibility, known as quantum nonlocality,
represents a milestone in the foundations of quantum theory. Quantum
nonlocality is also a valuable resource for information processing tasks, e.g.
quantum communication, quantum key distribution, quantum state estimation, or
randomness extraction. Still, deciding if a quantum state is nonlocal remains a
challenging problem. Here we introduce a novel approach to this question: we
study the nonlocal properties of quantum states when distributed and measured
in networks. Using our framework, we show how any one-way entanglement
distillable state leads to nonlocal correlations. Then, we prove that
nonlocality is a non-additive resource, which can be activated. There exist
states, local at the single-copy level, that become nonlocal when taking
several copies of it. Our results imply that the nonlocality of quantum states
strongly depends on the measurement context.Comment: 4 + 3 pages, 4 figure
Darier Disease: First Molecular Study of a Portuguese Family
Background:
Darier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (ATP2A2) gene, which encodes an ATPase responsible for pumping Ca2+ from the cytosol to the lumen of the ER.
Objective:
Herein we studied the molecular aspect of a two-generation Portuguese family with DD history with clinical variability.
Methods:
All exons and intron-exon borders of genomic ATP2A2, as well as coding ATP2A2, were sequenced. Relative levels of SERCA2 mRNA and protein were quantified by qPCR and western blotting, respectively.
Results:
The c.1287+1G > T variant was identified in all affected individuals, whereas the unaffected individual was shown to carry the wild-type ATP2A2 sequence in both alleles. This variant leads to the skipping of full exon 10, which consequently generates a frameshift originating a premature STOP codon in exon 11 (p.V395 = fs*19). Although the mutant mRNA seems to partially escape degradation, results suggest synthesis inhibition or immediate degradation of the mutant protein. Neuropsychiatric and other occurrences affecting certain patients are also reported.
Conclusion:
This is the first study of DD in Portugal, the variant identified, previously described in a single Japanese patient, may be considered a pathogenic mutation, and haploinsufficiency the mechanism underlying DD pathology in these patients. This study also highlights the co-occurrence of neuropsychiatric features in DD.info:eu-repo/semantics/publishedVersio
MAMMALS IN PORTUGAL: A data set of terrestrial, volant, and marine mammal occurrences in Portugal
Mammals are threatened worldwide, with ca. 26% of all species being included in the IUCN threatened categories. This overall pattern is primarily associated to habitat loss or degradation, and human persecution for terrestrial mammals, and pollution, open net fishing, climate change and prey depletion for marine mammals. Mammals play a key role in maintaining ecosystems functionality and resilience, and therefore information on their distribution is crucial to delineate and support conservation actions. MAMMALS IN PORTUGAL is a publicly available data set compiling unpublished geo-referenced occurrence records of 92 terrestrial, volant, and marine mammals in mainland Portugal and archipelagos of Azores and Madeira that includes 107,852 data entries between 1873 and 2021 (72% of the data occurring in 2000 and 2021). The methods used to collect the data were: live observations/captures (42%), sign surveys (38%), camera trapping (16%), bioacoustics surveys (4%) and radio-tracking and inquiries that represent less than 1% of the records. The data set includes 13 types of records: 1) burrows | soil mounds | tunnel, 2) capture, 3) colony, 4) dead animal | hair | skulls | jaws, 5) genetic confirmation, 6) inquiries, 7) observation of live animal, 8), observation in shelters, 9) photo trapping | video, 10), predators diet | pellets | pine cones/nuts, 11) scat | track | ditch, 12) telemetry and 13) vocalization | echolocation. The spatial uncertainty of most records ranges between 0 and 100 m (76%). Rodentia (n = 34,754) has the highest number of records followed by Chiroptera (n = 18,858), Carnivora (n = 18,594), Lagomorpha (n = 17,679), Cetartiodactyla (n = 11,568) and Eulipotyphla (n = 6400). The data set includes records of species classified by the IUCN as threatened (e.g., Oryctolagus cuniculus (n = 12,407), Monachus monachus (n = 1512), and Lynx pardinus (n = 197)]. We believe that this data set may stimulate the publication of other European countries data sets which would certainly contribute to ecology and conservation-related research, and therefore assisting on the development of more accurate and tailored conservation management strategies for each species. There are no copyright restrictions; please cite this data paper when the data are used in publications
JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients
The clinical courses of polycythemia vera (PV) and essential thrombocythemia (ET) are characterized by thrombohemorrhagic diathesis. Several groups have suggested an association between JAK2V617F mutation and thrombosis. We hypothesized a relationship between JAK2V617F allele burden, cellular activation parameters, and thrombosis. We evaluated a group of PV and ET patients using flow cytometry: platelet CD62P, CD63, and dense granules, platelet-leukocyte aggregates (PLA), leukocyte CD11b and monocyte tissue factor (TF) expression. All patients had increased baseline platelet CD62P and CD63 expression (p 50 % presented higher levels of leukocyte activation. In ET, thrombosis was associated with JAK2V617F mutation (p < 0.05, χ (2) = 5.2), increased monocyte CD11b (p < 0.05) and with platelet-PMN aggregates (p < 0.05). In ET patients, hydroxyurea does not significantly reduce the activation parameters. Our data demonstrate that JAK2V617F allele burden is directly correlated with activation parameters that drive mechanisms that favor thrombosis.info:eu-repo/semantics/publishedVersio
Treatment of Retinal Vein Occlusion with Ranibizumab in Clinical Practice: Longer-Term Results and Predictive Factors of Functional Outcome
To evaluate long-term results and predictors of efficacy in patients with macular edema due to retinal vein occlusion (RVO) treated with intravitreal ranibizumab in a clinical practice setting.info:eu-repo/semantics/publishedVersio
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears revealed erythroblastosis, poikilocytosis, and red cells with stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduced. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcinosis appeared soon thereafter. After 3 years of follow-up the child is doing reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain given the potential for hematologic and renal complications
AGUIA: autonomous graphical user interface assembly for clinical trials semantic data services
<p>Abstract</p> <p>Background</p> <p>AGUIA is a front-end web application originally developed to manage clinical, demographic and biomolecular patient data collected during clinical trials at MD Anderson Cancer Center. The diversity of methods involved in patient screening and sample processing generates a variety of data types that require a resource-oriented architecture to capture the associations between the heterogeneous data elements. AGUIA uses a semantic web formalism, resource description framework (RDF), and a bottom-up design of knowledge bases that employ the S3DB tool as the starting point for the client's interface assembly.</p> <p>Methods</p> <p>The data web service, S3DB, meets the necessary requirements of generating the RDF and of explicitly distinguishing the description of the domain from its instantiation, while allowing for continuous editing of both. Furthermore, it uses an HTTP-REST protocol, has a SPARQL endpoint, and has open source availability in the public domain, which facilitates the development and dissemination of this application. However, S3DB alone does not address the issue of representing content in a form that makes sense for domain experts.</p> <p>Results</p> <p>We identified an autonomous set of descriptors, the GBox, that provides user and domain specifications for the graphical user interface. This was achieved by identifying a formalism that makes use of an RDF schema to enable the automatic assembly of graphical user interfaces in a meaningful manner while using only resources native to the client web browser (JavaScript interpreter, document object model). We defined a generalized RDF model such that changes in the graphic descriptors are automatically and immediately (locally) reflected into the configuration of the client's interface application.</p> <p>Conclusions</p> <p>The design patterns identified for the GBox benefit from and reflect the specific requirements of interacting with data generated by clinical trials, and they contain clues for a general purpose solution to the challenge of having interfaces automatically assembled for multiple and volatile views of a domain. By coding AGUIA in JavaScript, for which all browsers include a native interpreter, a solution was found that assembles interfaces that are meaningful to the particular user, and which are also ubiquitous and lightweight, allowing the computational load to be carried by the client's machine.</p
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