130,462 research outputs found
Increased frequency of the homozygous II ACE genotype in Italian Olympic endurance athletes
No full textThese findings, obtained by selecting subjects with top endurance characteristics, confirm the association of the II genotype with improved aerobic performance, and extend the results of Nazarov et al to long distance athlete
Does factor V Asp79His(409 G/C) polymorphism influence factor V and APC resistence levels?
No full textDoes factor V Asp79His (409 G/C) polymorphism influence factor V and APC resistance levels?
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The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels.
No full textElevated factor VIII (FVIII) levels are a recognized risk factor for venous
thrombosis. Recently, family studies suggested that the G allele of the 3951C/G
(D1241E) FVIII polymorphism is associated to lower FVIII activity. We
investigated in case-control studies both biological effects (FVIII levels and
activated protein C sensitivity ratio) and clinical associations (venous
thromboembolism) of the D1241E change. Among 145 healthy and 150 thrombotic
women, not carriers of known thrombophilic defects, the 1241E allele was
associated with 11% reduced (t-test, P<0.05) FVIII levels. The effect on
activated protein C sensitivity ratio was not statistically significant.
Carriership of the 1241E allele, potentially conferring protection from
thrombosis, was found in 22.8% of controls and in 15.3% of cases. In an
additional cohort of factor V Leiden carriers (n=283), carriership of the 1241E
allele was 25.2% among 143 asymptomatic subjects and 17.1% among 140 thrombotic
patients. Our data do not indicate a specific interaction with factor V Leiden.
These genotype distributions suggest a mild protective effect from venous
thrombosis conferred by 1241E FVIII, masked by other genetic and/or
environmental components, and detectable only in very large population studies.
Our findings point toward the presence of genetic determinant of coagulation
factor levels with a biologically significant role, but with a poor predictive
value to estimate thrombotic risk beyond established risk factors
MeSH term explosion and author rank improve expert recommendations
No full textInformation overload is an often-cited phenomenon that reduces the productivity, efficiency and efficacy of scientists. One challenge for scientists is to find appropriate collaborators in their research. The literature describes various solutions to the problem of expertise location, but most current approaches do not appear to be very suitable for expert recommendations in biomedical research. In this study, we present the development and initial evaluation of a vector space model-based algorithm to calculate researcher similarity using four inputs: 1) MeSH terms of publications; 2) MeSH terms and author rank; 3) exploded MeSH terms; and 4) exploded MeSH terms and author rank. We developed and evaluated the algorithm using a data set of 17,525 authors and their 22,542 papers. On average, our algorithms correctly predicted 2.5 of the top 5/10 coauthors of individual scientists. Exploded MeSH and author rank outperformed all other algorithms in accuracy, followed closely by MeSH and author rank. Our results show that the accuracy of MeSH term-based matching can be enhanced with other metadata such as author rank
FV multiallelic marker detects genetic components of APC resistance contributing to venous thromboembolism in FV Leiden carriers
No full textActivated protein C resistance (APCR) is a major risk factor for venous thromboembolism (VTE). Although the factor V (FV) Leiden mutation accounts for the vast majority of APCR cases, other polymorphisms may contribute to the APCR phenotype. Genetic components of APCR and thrombophilia were investigated by two dinucleotide repeats, characterized in introns 2 and 11 of the FV gene. Only the intron 11 marker was genetically stable and thus suitable for further analysis. Its allelic frequencies were found to differ significantly (P=0.003) between subjects selected for increased APCR in the absence of the FV R506Q mutation (n=70, normalized ratios ≤0.80), and for increased APC sensitivity (n=98, normalized ratios ≥1.31). Genotype differences were also found (P=0.017) between FV R506Q heterozygotes (n=100) who had experienced previous VTE and those (n=100), who were still asymptomatic for VTE. Significance was mostly driven by the relative over-representation of the 12R allele and to a minor extent by the under-representation of the 15R allele among the symptomatic versus the asymptomatic FV Leiden carriers.
Two SNPs (4070A/G and 2391A/G) were found to underlie the 12R and 15R alleles respectively, and marked extended haplo-types, previously (HR2) or newly (HT2) identified. Only the FV HR2 differed (P=0.002) in frequency between the two groups of FV R506Q heterozygotes, suggesting that it represents the most relevant FV genetic component of APCR or VTE detectable by this experimental and clinical approach. Our analysis indicates that frequent FV genetic components might contribute to shape the risk for VTE in FV Leiden carriers
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
CMR+ Factor V deficiency Arg2080Cys: A model to investigate altered C2 domain-membrane interaction.
No full textTwo polymorphisms (2120Met/Thr, 2194 Asp/Gly,) in the C2 domain of factor V are associated with reduced factor V levels.
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