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Träfflista för sökning "WFRF:(Fernandez Concepcion) "

Sökning: WFRF:(Fernandez Concepcion)

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1.
  • Fernández-Pozo, Noé, et al. (författare)
  • EuroPineDB : a high-coverage web database for maritime pine transcriptome
  • 2011
  • Ingår i: BMC Genomics. - 1471-2164 .- 1471-2164. ; 12, s. 366-
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Pinus pinaster is an economically and ecologically important species that is becoming a woody gymnosperm model. Its enormous genome size makes whole-genome sequencing approaches are hard to apply. Therefore, the expressed portion of the genome has to be characterised and the results and annotations have to be stored in dedicated databases. DESCRIPTION: EuroPineDB is the largest sequence collection available for a single pine species, Pinus pinaster (maritime pine), since it comprises 951 641 raw sequence reads obtained from non-normalised cDNA libraries and high-throughput sequencing from adult (xylem, phloem, roots, stem, needles, cones, strobili) and embryonic (germinated embryos, buds, callus) maritime pine tissues. Using open-source tools, sequences were optimally pre-processed, assembled, and extensively annotated (GO, EC and KEGG terms, descriptions, SNPs, SSRs, ORFs and InterPro codes). As a result, a 10.5× P. pinaster genome was covered and assembled in 55 322 UniGenes. A total of 32 919 (59.5%) of P. pinaster UniGenes were annotated with at least one description, revealing at least 18 466 different genes. The complete database, which is designed to be scalable, maintainable, and expandable, is freely available at: http://www.scbi.uma.es/pindb/. It can be retrieved by gene libraries, pine species, annotations, UniGenes and microarrays (i.e., the sequences are distributed in two-colour microarrays; this is the only conifer database that provides this information) and will be periodically updated. Small assemblies can be viewed using a dedicated visualisation tool that connects them with SNPs. Any sequence or annotation set shown on-screen can be downloaded. Retrieval mechanisms for sequences and gene annotations are provided. CONCLUSIONS: The EuroPineDB with its integrated information can be used to reveal new knowledge, offers an easy-to-use collection of information to directly support experimental work (including microarray hybridisation), and provides deeper knowledge on the maritime pine transcriptome.
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2.
  • Marengoni, Alessandra, et al. (författare)
  • Patterns of Multimorbidity in a Population-Based Cohort of Older People : Sociodemographic, Lifestyle, Clinical, and Functional Differences
  • 2020
  • Ingår i: The journals of gerontology. Series A, Biological sciences and medical sciences. - 1079-5006 .- 1758-535X. ; 75:4, s. 798-805
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The aim of this study is to identify clusters of older persons based on their multimorbidity patterns and to analyze differences among clusters according to sociodemographic, lifestyle, clinical, and functional characteristics. Methods: We analyzed data from the Swedish National Study on Aging and Care in Kungsholmen on 2,931 participants aged 60 years and older who had at least two chronic diseases. Participants were clustered by the fuzzy c-means cluster algorithm. A disease was considered to be associated with a given cluster when the observed/expected ratio was >= 2 or the exclusivity was >= 25%. Results: Around half of the participants could be classified into five clinically meaningful clusters: respiratory and musculoskeletal diseases (RESP-MSK) 15.7%, eye diseases and cancer (EYE-CANCER) 10.7%, cognitive and sensory impairment (CNS-IMP) 10.6%, heart diseases (HEART) 9.3%, and psychiatric and respiratory diseases (PSY-RESP) 5.4%. Individuals in the CNS-IMP cluster were the oldest, with the worst function and more likely to live in a nursing home; those in the HEART cluster had the highest number of co-occurring diseases and drugs, and they exhibited the highest mean values of serum creatinine and C-reactive protein. The PSY-RESP cluster was associated with higher levels of alcoholism and neuroticism. The other half of the cohort was grouped in an unspecific cluster, which was characterized by gathering the youngest individuals, with the lowest number of co-occurring diseases, and the best functional and cognitive status. Conclusions: The identified multimorbidity patterns provide insight for setting targets for secondary and tertiary preventative interventions and for designing care pathways for multimorbid older people.
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3.
  • Oparina, Nina Y., et al. (författare)
  • PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6
  • 2015
  • Ingår i: Annals of the Rheumatic Diseases. - : BMJ Publishing Group. - 1468-2060 .- 0003-4967. ; 74:3, s. 14-14
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives To perform fine mapping of the PXK locus associated with systemic lupus erythematosus (SLE) and study functional effects that lead to susceptibility to the disease. Methods Linkage disequilibrium (LD) mapping was conducted by using 1251 SNPs (single nucleotide polymorphism) covering a 862 kb genomic region on 3p14.3 comprising the PXK locus in 1467 SLE patients and 2377 controls of European origin. Tag SNPs and genotypes imputed with IMPUTE2 were tested for association by using SNPTEST and PLINK. The expression QTLs data included three independent datasets for lymphoblastoid cells of European donors: HapMap3, MuTHER and the cross-platform eQTL catalogue. Correlation analysis of eQTLs was performed using Vassarstats. Alternative splicing for the PXK gene was analysed on mRNA from PBMCs. Results Fine mapping revealed long-range LD (>200 kb) extended over the ABHD6, RPP14, PXK, and PDHB genes on 3p14.3. The highly correlated variants tagged an SLE-associated haplotype that was less frequent in the patients compared with the controls (OR=0.89, p=0.00684). A robust correlation between the association with SLE and enhanced expression of ABHD6 gene was revealed, while neither expression, nor splicing alterations associated with SLE susceptibility were detected for PXK. The SNP allele frequencies as well as eQTL pattern analysed in the CEU and CHB HapMap3 populations indicate that the SLE association and the effect on ABHD6 expression are specific to Europeans. Conclusions These results confirm the genetic association of the locus 3p14.3 with SLE in Europeans and point to the ABHD6 and not PXK, as the major susceptibility gene in the region. We suggest a pathogenic mechanism mediated by the upregulation of ABHD6 in individuals carrying the SLE-risk variants.
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4.
  • Vetrano, Davide L., et al. (författare)
  • Twelve-year clinical trajectories of multimorbidity in a population of older adults
  • 2020
  • Ingår i: Nature Communications. - 2041-1723 .- 2041-1723. ; 11:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Multimorbidity-the co-occurrence of multiple diseases-is associated to poor prognosis, but the scarce knowledge of its development over time hampers the effectiveness of clinical interventions. Here we identify multimorbidity clusters, trace their evolution in older adults, and detect the clinical trajectories and mortality of single individuals as they move among clusters over 12 years. By means of a fuzzy c-means cluster algorithm, we group 2931 people >= 60 years in five clinically meaningful multimorbidity clusters (52%). The remaining 48% are part of an unspecific cluster (i.e. none of the diseases are overrepresented), which greatly fuels other clusters at follow-ups. Clusters contribute differentially to the longitudinal development of other clusters and to mortality. We report that multimorbidity clusters and their trajectories may help identifying homogeneous groups of people with similar needs and prognosis, and assisting clinicians and health care systems in the personalization of clinical interventions and preventive strategies. The co-occurrence of chronic diseases in the same person increases the risk of negative health events. Here authors show that grouping people based on their underlying disease patterns helps to identify homogeneous groups of people with similar needs and prognosis, facilitating personalized approaches.
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5.
  • Villar, Jesus, et al. (författare)
  • A Quantile Analysis of Plateau and Driving Pressures : Effects on Mortality in Patients With Acute Respiratory Distress Syndrome Receiving Lung-Protective Ventilation
  • 2017
  • Ingår i: Critical Care Medicine. - 0090-3493 .- 1530-0293. ; 45:5, s. 843-850
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives: The driving pressure (plateau pressure minus positive end-expiratory pressure) has been suggested as the major determinant for the beneficial effects of lung-protective ventilation. We tested whether driving pressure was superior to the variables that define it in predicting outcome in patients with acute respiratory distress syndrome.Design: A secondary analysis of existing data from previously reported observational studies.Setting: A network of ICUs.Patients: We studied 778 patients with moderate to severe acute respiratory distress syndrome.Interventions: None.Measurements and Main Results: We assessed the risk of hospital death based on quantiles of tidal volume, positive end-expiratory pressure, plateau pressure, and driving pressure evaluated at 24 hours after acute respiratory distress syndrome diagnosis while ventilated with standardized lung-protective ventilation. We derived our model using individual data from 478 acute respiratory distress syndrome patients and assessed its replicability in a separate cohort of 300 acute respiratory distress syndrome patients. Tidal volume and positive end-expiratory pressure had no impact on mortality. We identified a plateau pressure cut-off value of 29 cm H2O, above which an ordinal increment was accompanied by an increment of risk of death. We identified a driving pressure cut-off value of 19 cm H2O where an ordinal increment was accompanied by an increment of risk of death. When we cross tabulated patients with plateau pressure less than 30 and plateau pressure greater than or equal to 30 with those with driving pressure less than 19 and driving pressure greater than or equal to 19, plateau pressure provided a slightly better prediction of outcome than driving pressure in both the derivation and validation cohorts (p < 0.0000001).Conclusions: Plateau pressure was slightly better than driving pressure in predicting hospital death in patients managed with lung-protective ventilation evaluated on standardized ventilator settings 24 hours after acute respiratory distress syndrome onset.
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6.
  • Bacquart, Thomas, et al. (författare)
  • Hydrogen fuel quality from two main production processes : Steam methane reforming and proton exchange membrane water electrolysis
  • 2019
  • Ingår i: Journal of Power Sources. - : Elsevier B.V.. - 0378-7753 .- 1873-2755. ; 444
  • Tidskriftsartikel (refereegranskat)abstract
    • The absence of contaminants in the hydrogen delivered at the hydrogen refuelling station is critical to ensure the length life of FCEV. Hydrogen quality has to be ensured according to the two international standards ISO 14687–2:2012 and ISO/DIS 19880-8. Amount fraction of contaminants from the two hydrogen production processes steam methane reforming and PEM water electrolyser is not clearly documented. Twenty five different hydrogen samples were taken and analysed for all contaminants listed in ISO 14687-2. The first results of hydrogen quality from production processes: PEM water electrolysis with TSA and SMR with PSA are presented. The results on more than 16 different plants or occasions demonstrated that in all cases the 13 compounds listed in ISO 14687 were below the threshold of the international standards. Several contaminated hydrogen samples demonstrated the needs for validated and standardised sampling system and procedure. The results validated the probability of contaminants presence proposed in ISO/DIS 19880-8. It will support the implementation of ISO/DIS 19880-8 and the development of hydrogen quality control monitoring plan. It is recommended to extend the study to other production method (i.e. alkaline electrolysis), the HRS supply chain (i.e. compressor) to support the technology growth.
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8.
  • Villar, Jesus, et al. (författare)
  • Assessment of PaO2/FiO(2) for stratification of patients with moderate and severe acute respiratory distress syndrome
  • 2015
  • Ingår i: BMJ Open. - 2044-6055 .- 2044-6055. ; 5:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives: A recent update of the definition of acute respiratory distress syndrome (ARDS) proposed an empirical classification based on ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO(2)) at ARDS onset. Since the proposal did not mandate PaO2/FiO(2) calculation under standardised ventilator settings (SVS), we hypothesised that a stratification based on baseline PaO2/FiO(2) would not provide accurate assessment of lung injury severity. Design: A prospective, multicentre, observational study. Setting: A network of teaching hospitals. Participants: 478 patients with eligible criteria for moderate (100300). Primary and secondary outcomes: Group severity and hospital mortality. Results: At ARDS onset, 173 patients had a PaO2/FiO(2)<= 100 but only 38.7% met criteria for severe ARDS at 24 h under SVS. When assessed under SVS, 61.3% of patients with severe ARDS were reclassified as moderate, mild and non-ARDS, while lung severity and hospital mortality changed markedly with every PaO2/FiO(2) category (p<0.000001). Our model of risk stratification outperformed the stratification using baseline PaO2/FiO(2) and non-standardised PaO2/FiO(2) at 24 h, when analysed by the predictive receiver operating characteristic (ROC) curve: area under the ROC curve for stratification at baseline was 0.583 (95% CI 0.525 to 0.636), 0.605 (95% CI 0.552 to 0.658) at 24 h without SVS and 0.693 (95% CI 0.645 to 0.742) at 24 h under SVS (p<0.000001). Conclusions: Our findings support the need for patient assessment under SVS at 24 h after ARDS onset to assess disease severity, and have implications for the diagnosis and management of ARDS patients.
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