We targeted LYN, a src-tyosine kinase involved in B-cell activation, in case-control association studies using populations of European-American, African-American and Korean subjects. Our combined European-derived population, consisting of 2463 independent cases and 3131 unrelated controls, shows significant association with rs6983130 in a female-only analysis with 2254 cases and 2228 controls (P ¼ 1.1 Â 10 À4 , odds ratio (OR) ¼ 0.81 (95% confidence interval: 0.73-0.90)). This single nucleotide polymorphism (SNP) is located in the 5 0 untranslated region within the first intron near the transcription initiation site of LYN. In addition, SNPs upstream of the first exon also show weak and sporadic association in subsets of the total EuropeanAmerican population. Multivariate logistic regression analysis implicates rs6983130 as a protective factor for systemic lupus erythematosus (SLE) susceptibility when anti-dsDNA, anti-chromatin, anti-52 kDa Ro or anti-Sm autoantibody status were used as covariates. Subset analysis of the European-American female cases by American College of Rheumatology classification criteria shows a reduction in the risk of hematological disorder with rs6983130 compared with cases without hematological disorders (P ¼ 1.5 Â 10 À3 , OR ¼ 0.75 (95% CI: 0.62À0.89)). None of the 90 SNPs tested show significant association with SLE in the African American or Korean populations. These results support an association of LYN with European-derived individuals with SLE, especially within autoantibody or clinical subsets.
Maintenance of ex situ populations for species conservation is a collaborative effort involving multiple agencies, institutions, and individuals around the world. Gentoo penguins (Pyogoscelis papua) are one species involved in such a conservation effort, and a Species Survival Plan (SSP) has been put in place by the Association of Zoos and Aquariums (AZA) to foster their long-term sustainability. As a part of their SSP, a Breeding and Transfer Plan has been created to support interagency exchanges of specimens. These transfers are vital to the demographic health and stability of ex situ populations, as well as the maintenance of genetic diversity. In populations such as the Gentoo, where social monogamy exists, paternal inferences of offspring are usually made through observation of birds' social behavior. However, social monogamy does not guarantee reproductive monogamy. In this study, we utilize Illumina high-throughput DNA sequencing to genetically test the postulated paternity of Gentoo penguins born at Loveland Living Planet Aquarium (LLPA) in Draper, UT. While our data support the majority of the postulated relationships, we did identify two offspring that were the result of extra-pair paternity (EPP). The results of this research highlight the importance of genetic tests to validate pedigrees used in SSPs, to provide more-accurate data for the support of species conservation.
Introduction: For patients with cerebral venous thrombosis (CVT), intravenous unfractionated heparin (UFH) is a cornerstone of anticoagulant therapy. Drawbacks of UFH include difficulty in reaching an optimal dose. Anti-factor-Xa (AFXa) assay is used to monitor UFH treatment. We sought to determine whether AFXa values are associated with outcomes in CVT. Methods: This pilot study included adults (≥18y) admitted to a CSC between 1/1/2018-12/31/2020 who were initially treated for CVT with low-intensity UFH drip and had at least one AFXa assay. AFXa therapeutic values were defined as 0.25 - 0.5 IU/mL. We examined percent of patients who became therapeutic within 24h of arrival, and time (hours) to reach therapeutic range. Outcomes included hospital LOS, bleeding event, and discharge disposition. Continuous data are presented as median (interquartile range). Significance was p<0.20. Results: 51 CVT patients were included. The hospital LOS was 5 (4-9) days, 40 (78%) patients were discharged home, and 7 (14%) developed a bleed; 4 bleeds required no action. The time to start UFH was 2h (1-6) from arrival and the time to the first AFXa assay was 8h (4-11) from arrival. AFXa were drawn 4 (2-8) times per patient. AFXa assays were performed within 24h for 45 (88%) patients and 30 (67%) patients were in the therapeutic range. There was no association between study outcomes and therapeutic AFXa ( Table 1 ). There was also no association between study outcomes and the time (h) to reach therapeutic range: discharge home vs. other location (11h vs. 14h, p=0.49), development of a bleed vs. no bleed (9h vs. 12h, p=0.44), and no correlation with hospital LOS (p=0.55). Conclusions: Most CVT patients were within the target AFXa range within 24h of arrival. The time to achieve therapeutic AFXa was not associated with better outcomes, although most patients had a favorable disposition and bleeding complications were infrequent.
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