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Sökning: WFRF:(Aguiar Carlos)

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  • Dominguez, Mev, et al. (författare)
  • Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals
  • 2011
  • Ingår i: Familial Cancer. - : Kluwer. - 1389-9600. ; 10:4, s. 641-647
  • Tidskriftsartikel (refereegranskat)abstract
    • Lynch syndrome (LS) is an autosomal dominant syndrome that predisposes individuals to development of cancers early in life. These cancers are mainly the following: colorectal, endometrial, ovarian, small intestine, stomach and urinary tract cancers. LS is caused by germline mutations in DNA mismatch repair genes (MMR), mostly MLH1 and MSH2, which are responsible for more than 85% of known germline mutations. To search for germline mutations in MLH1 and MSH2 genes in 123 unrelated South American suspected LS patients (Bethesda or Amsterdam Criteria) DNA was obtained from peripheral blood, and PCR was performed followed by direct sequencing in both directions of all exons and intron-exon junctions regions of the MLH1 and MSH2 genes. MLH1 or MSH2 pathogenic mutations were found in 28.45% (34/123) of the individuals, where 25/57 (43.85%) fulfilled Amsterdam I, II and 9/66 (13.63%) the Bethesda criteria. The mutations found in both genes were as follows: nonsense (35.3%), frameshift (26.47%), splicing (23.52%), and missense (9%). Thirteen alterations (35.14%) were described for the first time. The data reported in this study add new information about MLH1 and MSH2 gene mutations and contribute to better characterize LS in Brazil, Uruguay and Argentina. The high rate of novel mutations demonstrates the importance of defining MLH1 and MSH2 mutations in distinct LS populations.
  • Dominguez, Mev, et al. (författare)
  • Evaluation of MLH1 I219V Polymorphism in Unrelated South American Individuals Suspected of Having Lynch Syndrome.
  • 2012
  • Ingår i: Anticancer research. - : International Institute of Cancer Research. - 1791-7530. ; 32:10, s. 4347-4351
  • Tidskriftsartikel (refereegranskat)abstract
    • Some single-nucleotide polymorphisms are associated with higher risk of colorectal cancer development and are suggested to explain part of the genetic contribution to Lynch syndrome. Aim: To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features.
  • Afewerki, Samson, et al. (författare)
  • Advances in dual functional antimicrobial and osteoinductive biomaterials for orthopaedic applications
  • 2020
  • Ingår i: Nanomedicine. - 1549-9634 .- 1549-9642. ; 24
  • Forskningsöversikt (refereegranskat)abstract
    • A vast growing problem in orthopaedic medicine is the increase of clinical cases with antibiotic resistant pathogenic microbes, which is predicted to cause higher mortality than all cancers combined by 2050. Bone infectious diseases limit the healing ability of tissues and increase the risk of future injuries due to pathologic tissue remodelling. The traditional treatment for bone infections has several drawbacks and limitations, such as lengthy antibiotic treatment, extensive surgical interventions, and removal of orthopaedic implants and/or prosthesis, all of these resulting in long-term rehabilitation. This is a huge burden to the public health system resulting in increased healthcare costs. Current technologies e.g. co-delivery systems, where antibacterial and osteoinductive agents are delivered encounter challenges such as site-specific delivery, sustained and prolonged release, and biocompatibility. In this review, these aspects are highlighted to promote the invention of the next generation biomaterials to prevent and/or treat bone infections and promote tissue regeneration.
  • Gross, James, 1975-, et al. (författare)
  • Experimental Characterization and Modeling of RF Jamming Attacks on VANETs
  • 2015
  • Ingår i: ; 64:2, s. 524-540
  • Tidskriftsartikel (refereegranskat)abstract
    • In this work, we evaluate the performance of 802.11p-based vehicular communications in the presence of RF jamming attacks. Specifically, we characterize the transmission success rate of a car-to-car link subject to constant, periodic, and reactive RF jamming. First, we conduct extensive measurements in an anechoic chamber, where we study the benefits of built-in techniques for interference mitigation. In addition, we identify that the periodic transmission of preamblelike jamming signals can hinder successful communication despite being up to five orders of magnitude weaker than the signal of interest. We further provide the rationale behind this remarkably high jammer eectiveness. Additionally, we quantify the impact of reaction delay and interference signal length on the eectiveness of the reactive jammer. Next, by means of outdoor measurements, we evaluate the suitability of the indoor measurements for being used as a model to characterize the performance of car-to-car communications in the presence of RF jamming. Finally, we conduct outdoor measurements emulating a vehicular platoon and study the threats that RF jamming poses to this VANET application. We observe that constant, periodic, but also reactive jammer can hinder communication over large propagation areas, which would threaten road safety.
  • Guell, Jose, et al. (författare)
  • Systemic exposure to intracameral vs topical mydriatic agents : in cataract surgery.
  • 2019
  • Ingår i: Clinical Ophthalmology. - : Dovepress. - 1177-5467 .- 1177-5483. ; 13, s. 811-819
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: The objective of this study was to compare systemic exposure to tropicamide/phenylephrine following intracameral or topical administration before cataract surgery.Patients and methods: Mydriatics exposure was calculated in patients randomized to intracameral fixed combination of mydriatics and anesthetic ([ICMA]: tropicamide 0.02%, phenylephrine 0.31%, and lidocaine 1%, N=271) or mydriatic eye drops ([EDs]: tropicamide 0.5% and phenylephrine 10%, N=283). Additional doses were permitted if required. Mydriatic plasma levels were determined by mass spectrometric HPLC in 15 patients per group before and after administration.Results: Most ICMA patients (73.6%) received a single dose (200 µL) representing an exposure to tropicamide of 0.04 mg and phenylephrine of 0.62 mg. None of these patients received additional mydriatics. In the control group (three administrations), the exposure was 0.45 (11.3-fold higher than ICMA) and 10.2 (16.5-fold higher) mg. When additional ED was used in this group (9.2% of patients), it was 37.5-fold higher for tropicamide (10 drops, 1.5 mg) and 54.8-fold higher for phenylephrine (10 drops, 34 mg) than the recommended ICMA dose. Tropicamide plasma levels were not detectable at any time point in ICMA patients while it was detectable in all ED patients at 12 and 30 minutes. Phenylephrine was detectable in 14.3% of ICMA patients compared to all ED patients at least at one time point. More ED patients experienced a meaningful increase in blood pressure and/or heart rate (11.2% vs 6.0% of ICMA patients; P=0.03).Conclusion: Systemic exposure to tropicamide/phenylephrine was lower and cardiovascular (CV) effects were less frequent with ICMA. This could be of particular significance in patients at CV risk.
  • Luis, Yunior, et al. (författare)
  • UrbanSense: An Urban-Scale Sensing Platform for the Internet of Things
  • 2016
  • Ingår i: IEEE Second International Smart Cities Conference (ISC2 2016). - 9781509018451 ; , s. 763-768
  • Konferensbidrag (refereegranskat)abstract
    • A critical step towards smarter and safer cities is to endow them with the abilities to massively gather a wide variety of data sets and to automatically feed those data to decision support tools and applications that leverage artificial intelligence. We present UrbanSense, a platform deployed on the streets of a mid-size European city (Porto, Portugal) to collect key environmental data. The main innovations of UrbanSense are (1) design for affordability and extensibility, (2) its ability to leverage heterogeneous networks to send the data to the cloud (using both real-time and delay-tolerant communications), and (3) its Internet of Things integration to expose the data streams to smart city tools and applications. Beyond discussing the design choices, we present operational results for 6 months of operation and give a detailed account of the challenges faced by the successful deployment of urban sensing technologies in the wild.
  • Melo, Joao, et al. (författare)
  • Surgery for atrial fibrillation in patients with mitral valve disease: results at five years from the International Registry of Atrial Fibrillation Surgery.
  • 2008
  • Ingår i: The Journal of thoracic and cardiovascular surgery. - 1097-685X. ; 135:4, s. 863-9
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: We sought to assess the clinical and survival benefit of atrial fibrillation surgery in patients submitted to mitral valve surgery after stabilization of postoperative rhythm at 1 year. METHODS: One thousand seven hundred twenty-three patients were enrolled. Patients with follow-up of longer than 1 year (n = 972) were divided into 3 groups according to surface electrocardiographic rhythm during follow-up visits: stable sinus rhythm, stable atrial fibrillation, and intermittent rhythms. Adverse cardiac event incidence and predictors of long-term outcome were compared among the 3 groups. RESULTS: In-hospital mortality was 2.6%. Risk factors for mortality were the cut-and-sew technique (odds ratio, 8.92; 95% confidence interval, 1.71-46.50; P = .009) and isolated left atrial procedure (odds ratio, 0.16; 95% confidence interval, 0.04-0.56; P = .004). At 1 year, 63.4% patients were in stable sinus rhythm. Stable sinus rhythm was found to be associated with early and late survival (P = .01, log-rank analysis). Multivariate binary logistic regression analysis found that left atrial dimension (odds ratio, 0.97; 95% confidence interval, 0.96-0.99; P = .005) and concomitant coronary revascularization (odds ratio, 0.48; 95% confidence interval, 0.25-0.92; P = .027) were independent predictors of stable sinus rhythm at 1 year after surgical intervention. At 48 months' follow-up, predictors for stable sinus rhythm were biatrial surgical approach and absence of preoperative permanent atrial fibrillation (odds ratio, 3.56; 95% confidence interval, 1.62-7.83; P < .002). Left atrial size (each millimeter) has a borderline statistical significance (odds ratio, 0.97; 95% confidence interval, 0.93-1.00; P = .065). Thromboembolic events were found to be associated with absence of stable sinus rhythm (P = .010, log-rank analysis). CONCLUSIONS: The achievement of stable sinus rhythm is a predictor of better survival and lower incidence of thromboembolic events. Predictors of stable sinus rhythm were smaller dimensions of the left atrium, biatrial approach, absence of preoperative permanent atrial fibrillation, and absence of concomitant coronary artery bypass grafting.
  • Rofes, Adrìa, et al. (författare)
  • Imageability ratings across languages
  • 2018
  • Ingår i: Behavior Research Methods. - 1554-351X .- 1554-3528. ; 50:3, s. 1187-1197
  • Tidskriftsartikel (refereegranskat)abstract
    • Imageability is a psycholinguistic variable that indicates how well a word gives rise to a mental image or sensory experience. Imageability ratings are used extensively in psycholinguistic, neuropsychological, and aphasiological studies. However, little formal knowledge exists about whether and how these ratings are associated between and within languages. Fifteen imageability databases were cross-correlated using nonparametric statistics. Some of these corresponded to unpublished data collected within a European research network—the Collaboration of Aphasia Trialists (COST IS1208). All but four of the correlations were significant. The average strength of the correlations (rho = .68) and the variance explained (R2 = 46%) were moderate. This implies that factors other than imageability may explain 54% of the results. Imageability ratings often correlate across languages. Different possibly interacting factors may explain the moderate strength and variance explained in the correlations: (1) linguistic and cultural factors; (2) intrinsic differences between the databases; (3) range effects; (4) small numbers of words in each database, equivalent words, and participants; and (5) mean age of the participants. The results suggest that imageability ratings may be used cross-linguistically. However, further understanding of the factors explaining the variance in the correlations will be needed before research and practical recommendations can be made.
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