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Sökning: WFRF:(Lino Maria Teresa)

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1.
  • Broeder, Daan, et al. (författare)
  • A large metadata domain of Language Resources
  • 2004
  • Ingår i: Proceedings of LREC 2004.
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • The INTERA and ECHO projects were partly intended to create a critical mass of open and linked metadata descriptions of language resources, helping researchers to understand the benefits of an increased visibility of language resources in the Internet and motivating them to participate. The work was based on the new IMDI version 3.0.3 which is a result of experiences with the earlier versions and new requirements coming from the involved partners. While in INTERA major data centers in Europe are participating, the ECHO project focuses on resources that can be seen as part of cultural heritage. Currently, 27 institutions and projects are active with the goal of having a large browsable and searchable domain by the summer of 2004. Experience shows that the creation of high quality metadata is not trivial and asks for a considerable amount of effort and skills, since manual work alone is too time consumin
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2.
  • Dispenzieri, Angela, et al. (författare)
  • Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) : 14-year update
  • 2022
  • Ingår i: Orphanet Journal of Rare Diseases. - : BioMed Central (BMC). - 1750-1172. ; 17:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021).Results: This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation.Conclusions: This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease.ClinicalTrials.gov Identifier: NCT00628745.
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