154 research outputs found

    SchlĂźsselfaktoren der Mitgliederbindung im Wirtschaftsverband

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    Wirtschaftsverbände kÜnnen ihre Mitgliederbasis am besten dadurch stabilisieren, indem sie sich auf ihre Kernaufgabe konzentrieren, fßr die sie ursprßnglich gegrßndet wurden, und darßber hinaus eine lebendige Austauschplattform bereitstellen. Das zeigen Untersuchungen bei zwei Schweizer Verbänden, dem Ausbildungsverband flexo suisse und dem Berufsverband Baukader Schweiz. Die beiden Studien bestätigen zudem die Vermutung, dass zusätzlichen Leistungsangeboten vom Mitgliederstandpunkt aus eine deutlich geringere Rolle zukommt, obwohl aktuelle Bestrebungen häufig auf eine Erweiterung des Dienstleistungsspektrums ßber eine Ausweitung von Individualleistungen gerichtet sind

    Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

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    Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near SOX2 (rs1345417: P = 6.51×10−10) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73×10−8 ). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81×10−11) near EDAR. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby SOX2 and FOXD1 genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the populations tested. Contrary to popular speculation, we found no evidence that eyebrow thickness is subject to strong selective pressure

    Neurodevelopment in children exposed to Zika in utero : clinical and molecular aspects

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    Five years after the identification of Zika virus as a human teratogen, we reviewed the early clinical manifestations, collectively called congenital Zika syndrome (CZS). Children with CZS have a very poor prognosis with extremely low performance in motor, cognitive, and language development domains, and practically all feature severe forms of cerebral palsy. However, these manifestations are the tip of the iceberg, with some children presenting milder forms of deficits. Additionally, neurodevelopment can be in the normal range in the majority of the non-microcephalic children born without brain or eye abnormalities. Vertical transmission and the resulting disruption in development of the brain are much less frequent when maternal infection occurs in the second half of the pregnancy. Experimental studies have alerted to the possibility of other behavioral outcomes both in prenatally infected children and in postnatal and adult infections. Cofactors play a vital role in the development of CZS and involve genetic, environmental, nutritional, and social determinants leading to the asymmetric distribution of cases. Some of these social variables also limit access to multidisciplinary professional treatment

    Comments and illustrations of the WFUMB CEUS liver guidelines: Rare benign focal liver lesion, part I.

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    Improved detection and characterization of common focal liver lesions (FLL) are the main topics of the World Federation for Ultrasound in Medicine and Biology (WFUMB) guidelines on the use of contrast-enhanced ultrasound (CEUS). On stateof-the-art CEUS imaging, to create a library of rare FLL, especially concerning their atypical imaging characteristics, might be helpful for improving clinical diagnostic efficiency. In this review, we aim to summarize the ultrasound and CEUS features of rare benign FLL. Currently there are limited reports and images published

    Comments and illustrations of the WFUMB CEUS liver guidelines: Rare benign focal liver lesion, part II.

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    It is important to be familiar with the typical imaging features of the uncommon or even extremely rare focal liver lesions (FLL). Current guidelines of the World Federation for Ultrasound in Medicine and Biology (WFUMB) is aimed at assessing the usefulness of contrast enhanced ultrasound (CEUS) in the management of various FLL. In this review, we aim to summarize the ultrasound and CEUS characteristics with literature review of some extremely rare benign FLL, which might be helpful for improving diagnostic efficiency clinically

    Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

    Get PDF
    Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near SOX2 (rs1345417: P = 6.51×10−10) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73×10−8). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81×10−11) near EDAR. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby SOX2 and FOXD1 genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the populations tested. Contrary to popular speculation, we found no evidence that eyebrow thickness is subject to strong selective pressure

    A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

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    We report a genome-wide association scan for facial features in B6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P valueso5 10 8) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of B3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion

    Effects of hormonal treatment, maxilofacial surgery-orthodontics, traumatism, and malformation on fluctuating asymmetry

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    ABSTRACT: In this work we test for the putative association between facial fluctuating asymmetry (FFA) and hormone treatments, maxillofacial surgery, orthodontics, injuries, and malformations. A protocol of five photographs and photogrammetric reconstruction was implemented to place thirty-four 3D landmarks in 3162 individuals aged between 18 and 85 years, belonging to the CANDELA initiative. A Procrustes ANOVA test was used to obtain individual facial fluctuating asymmetry scores. One way ANOVA, Welch, and Levene tests were conducted to explore the potential differences between mean and variance of the response variables. Our results indicate that women who received some hormonal treatment showed higher fluctuating facial asymmetry scores in relation to the unaffected group, this being persistent once the effects of heterozygosity (genetic ancestry) and further variables had been statistically controlled. The shape changes corresponding to this association are focused on the chin, jaw, lower lip, prefrontal region, nose, and ears. Previous reports suggested a potential relationship between facial asymmetry and hormone levels, but to the best of our knowledge there are no reports indicating the causation underlying the association detected here. This report is one more evidence of the association between hormone intake and facial asymmetric features in urban admixed Latin American populations.RESUMEN: En este trabajo se evalĂşa la relaciĂłn entre la asimetrĂ­a fluctuante facial (AFF) y los tratamientos hormonales, cirugĂ­as maxilofaciales, ortodoncia, traumatismos y malformaciones. En el marco del proyecto CANDELA, se tomaron cinco fotografĂ­as faciales de 3162 voluntarios entre los 18 y 85 aĂąos. Por fotogrametrĂ­a se colocaron 34 landmarks o puntos en 3D y mediante el mĂŠtodo Procrustes ANOVA se obtuvieron valores individuales de asimetrĂ­a fluctuante facial. Se realizĂł una prueba de ANOVA de una vĂ­a y la prueba de Welch y Levene para conocer las diferencias entre media y varianza de los valores de asimetrĂ­a facial y las variables respuesta. TambiĂŠn, se caracterizĂł la variaciĂłn morfolĂłgica del componente asimĂŠtrico de la forma facial mediante tĂŠcnicas multivariadas sobre los grupos que resultaran diferentes significativamente. Las mujeres que reportaron haber recibido algĂşn tipo de tratamiento hormonal mostraron mayores valores de asimetrĂ­a fluctuante facial respecto al grupo sin tratamiento. Esta asociaciĂłn se mantuvo una vez removido el efecto de la heterocigosidad (como indicador de la ancestrĂ­a) y sin interactuar con el resto de covariables incluidas en el anĂĄlisis. Los cambios morfolĂłgicos asociados a este factor se concentran en el mentĂłn, maxilar labio inferior, regiĂłn perifrontal, regiĂłn nasal y orejas. Algunos trabajos anteriores dieron cuenta de la posible relaciĂłn entre la asimetrĂ­a facial y los niveles de hormonas, pero no hay estudios que sustenten la relaciĂłn causal o directa entre la asociaciĂłn aquĂ­ planteada. El presente trabajo es una evidencia mĂĄs de la asociaciĂłn entre el consumo de hormonas y modificaciones de caracteres faciales en poblaciones urbanas mestizas latinoamericanas

    Measurement of the top quark-pair production cross section with ATLAS in pp collisions at \sqrt{s}=7\TeV

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    A measurement of the production cross-section for top quark pairs(\ttbar) in pppp collisions at \sqrt{s}=7 \TeV is presented using data recorded with the ATLAS detector at the Large Hadron Collider. Events are selected in two different topologies: single lepton (electron ee or muon Ο\mu) with large missing transverse energy and at least four jets, and dilepton (eeee, ΟΟ\mu\mu or eΟe\mu) with large missing transverse energy and at least two jets. In a data sample of 2.9 pb-1, 37 candidate events are observed in the single-lepton topology and 9 events in the dilepton topology. The corresponding expected backgrounds from non-\ttbar Standard Model processes are estimated using data-driven methods and determined to be 12.2¹3.912.2 \pm 3.9 events and 2.5¹0.62.5 \pm 0.6 events, respectively. The kinematic properties of the selected events are consistent with SM \ttbar production. The inclusive top quark pair production cross-section is measured to be \sigmattbar=145 \pm 31 ^{+42}_{-27} pb where the first uncertainty is statistical and the second systematic. The measurement agrees with perturbative QCD calculations.Comment: 30 pages plus author list (50 pages total), 9 figures, 11 tables, CERN-PH number and final journal adde

    Standalone vertex nding in the ATLAS muon spectrometer

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    A dedicated reconstruction algorithm to find decay vertices in the ATLAS muon spectrometer is presented. The algorithm searches the region just upstream of or inside the muon spectrometer volume for multi-particle vertices that originate from the decay of particles with long decay paths. The performance of the algorithm is evaluated using both a sample of simulated Higgs boson events, in which the Higgs boson decays to long-lived neutral particles that in turn decay to bbar b final states, and pp collision data at √s = 7 TeV collected with the ATLAS detector at the LHC during 2011
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