7 research outputs found

    Формирование эмоциональной культуры как компонента инновационной культуры студентов

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    Homozygosity has long been associated with rare, often devastating, Mendelian disorders1 and Darwin was one of the first to recognise that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity, ROH), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3,4. Here we use ROH to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts and find statistically significant associations between summed runs of homozygosity (SROH) and four complex traits: height, forced expiratory lung volume in 1 second (FEV1), general cognitive ability (g) and educational attainment (nominal p<1 × 10−300, 2.1 × 10−6, 2.5 × 10−10, 1.8 × 10−10). In each case increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing convincing evidence for the first time that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5,6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein (LDL) cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been

    CENTRAL RETINAL VEIN OCCLUSION IN YOUNG INDIVIDUALS A Comparison of Risk Factors and Clinical Outcomes

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    Purpose: To compare the presentation and outcomes of patients younger than 50 years versus patients aged 50 years and older with central retinal vein occlusion (CRVO). Methods: This single-center retrospective study included patients with CRVO presenting between January 2009 and July 2016. Charts were reviewed and data were abstracted. Presenting and final clinical parameters, treatment burden, and predisposing factors for CRVO were compared between the two groups. Results: Thirty-six patients younger than 50 years and 233 patients aged 50 years and older at the time of CRVO onset were included. At presentation, younger patients had better visual acuity than older patients (20/80 vs. 20/224, P = 0.001) and a lower incidence of cystoid macular edema (54 vs. 79%, P = 0.001). Twenty-one of 36 (58%) younger patients had at least one identifiable nontraditional risk factor for CRVO. At final follow-up, younger patients received fewer total intravitreal injections (3.8 +/- 5.8 at 34.2 months) compared with older patients (6.5 +/- 8.8, at 37.6 months, P = 0.03) and had better final acuity (20/85 vs. 20/289, P = 0.004, respectively). Conclusion: Younger patients had better baseline and final acuities, a lower incidence of cystoid macular edema at presentation, and received fewer intravitreal injections than older patients. Workup for etiology of CRVO in younger patients may reveal nontraditional risk factors for CRVO

    An environmentally benign and cost-effective synthesis of Aminoferrocene and Aminoruthenocene

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    An improved synthesis of aminoferrocene has been carried out that adheres with the basic green chemistry guidelines. Amination from aqueous NH3 as the nitrogen source, with the inexpensive CuI/Fe2O3 couple as cocatalyst in ethanolic solution, makes the process environmentally attractive as well as a viable alternative for all practical purposes. This procedure has also been applied to prepare aminoruthenocene, being reported for the first time
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