Autism associated with tetrasomy 15: A further report

Association of autism with tetrasomy of chromosome 15 has recently been described in six males. In this report, we describe the occurrence of autism in a girl with tetrasomy of chromosome 15. The patient showed hyperactivity, hand-flapping, short-stature, eye abnormalities, and hypotonia, which have been reported in males with tetrasomy of chromosome 15. This suggests that autism may be associated in both sexes with a distinct syndrome characterized by tetrasomy of chromosome 15, mental retardation and characteristic physical features. L'association d'autisme avec une tétrasomie du chromosome 15 a été décrite récemment chez six garçons. Dans cet article, nous décrivons la survenue d'un autisme chez une fille avec une tétrasomie du chromosome 15. La patiente présentait une hyperactivité, un battement des mains, une petite taille, des anormalités des yeux et une hypotonie qui ont été rapportées chez des garçons avec tétrasomie du chromosome 15. Ceci suggère que l'autisme peut être associé dans les deux sexes avec un syndrome distinct caractérisé par une tétrasomie du chromosome 15, un retard mental et des traits physiques caractéristiques. Kürzlich wurde eine Assoziation einer Tetrasomie des Chromosoms 15 mit Autismus bei 6 männlichen Individuen beschrieben. In dem vorliegenden Fallbericht wird das Vorkommen eines Autismus bei einem Mädchen mit einer Tetrasomie des Chromosoms 15 dargestellt. Die Patientin zeigte Hyperaktivität, Handstereotypien, ophthalmologische Auffälligkeiten und Hypotonie. Diese Auffälligkeiten sind auch bei den männlichen Individuen mit einer Tetrasomie 15 beschrieben worden. Diese Befunde legen nahe, daß bei beiden Geschlechtern Autismus mit einem eigenständigen Syndrom im Falle des Vorliegens einer Tetrasomie 15 einhergeht, dessen wesentliche Merkmale geistige Behinderung und charakteristische Auffälligkeiten sind.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/41756/1/787_2005_Article_BF02098582.pd

Biomarkers of exposure to new and emerging tobacco delivery products

Accurate and reliable measurements of exposure to tobacco products are essential for identifying and confirming patterns of tobacco product use and for assessing their potential biological effects in both human populations and experimental systems. Due to the introduction of new tobaccoderived products and the development of novel ways to modify and use conventional tobacco products, precise and specific assessments of exposure to tobacco are now more important than ever. Biomarkers that were developed and validated to measure exposure to cigarettes are being evaluated to assess their use for measuring exposure to these new products. Here, we review current methods for measuring exposure to new and emerging tobacco products, such as electronic cigarettes, little cigars, water pipes, and cigarillos. Rigorously validated biomarkers specific to these new products have not yet been identified. Here, we discuss the strengths and limitations of current approaches, including whether they provide reliable exposure estimates for new and emerging products. We provide specific guidance for choosing practical and economical biomarkers for different study designs and experimental conditions. Our goal is to help both new and experienced investigators measure exposure to tobacco products accurately and avoid common experimental errors. With the identification of the capacity gaps in biomarker research on new and emerging tobacco products, we hope to provide researchers, policymakers, and funding agencies with a clear action plan for conducting and promoting research on the patterns of use and health effects of these products

Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation

Background and aims Increased proinsulin relative to insulin levels have been associated with subclinical atherosclerosis (measured by carotid intima-media thickness (cIMT)) and are predictive of future cardiovascular disease (CVD), independently of established risk factors. The mechanisms linking proinsulin to atherosclerosis and CVD are unclear. A genome-wide meta-analysis has identified nine loci associated with circulating proinsulin levels. Using proinsulin-associated SNPs, we set out to use a Mendelian randomisation approach to test the hypothesis that proinsulin plays a causal role in subclinical vascular remodelling. Methods We studied the high CVD-risk IMPROVE cohort (n = 3345), which has detailed biochemical phenotyping and repeated, state-of-the-art, high-resolution carotid ultrasound examinations. Genotyping was performed using Illumina Cardio-Metabo and Immuno arrays, which include reported proinsulin-associated loci. Participants with type 2 diabetes (n = 904) were omitted from the analysis. Linear regression was used to identify proinsulin-associated genetic variants. Results We identified a proinsulin locus on chromosome 15 (rs8029765) and replicated it in data from 20,003 additional individuals. An 11-SNP score, including the previously identified and the chromosome 15 proinsulin-associated loci, was significantly and negatively associated with baseline IMTmean and IMTmax (the primary cIMT phenotypes) but not with progression measures. However, MR-Eggers refuted any significant effect of the proinsulin-associated 11-SNP score, and a non-pleiotropic SNP score of three variants (including rs8029765) demonstrated no effect on baseline or progression cIMT measures. Conclusions We identified a novel proinsulin-associated locus and demonstrated that whilst proinsulin levels are associated with cIMT measures, proinsulin per se is unlikely to have a causative effect on cIMT

Produtividade e valor nutritivo da Brachiaria brizantha cv. Marandu em um sistema silvipastoril Productivity and nutritional value of Brachiaria brizantha cv. Marandu in a silvopastoral system

O experimento foi realizado em sistema silvipastoril (Ssp) localizado no bioma de Cerrado, no município de Lagoa Santa, Minas Gerais, no ano agrícola de 2004-2005. Avaliou-se a influência do Ssp composto pela arbórea bolsa-de-pastor (Zeyheria tuberculosa) sobre os parâmetros produção, atributos morfogênicos, composição bromatológica e valor nutritivo da gramínea Brachiaria brizantha cv. Marandu, e os efeitos sobre as condições microclimáticas. O delineamento experimental foi em blocos ao acaso, com cinco blocos (épocas de corte), dois tratamentos (T1 - B. brizantha cv. Marandu sombreada com a Z. tuberculosa e T2 - B. brizantha cv. Marandu, a pleno sol) e três repetições (parcelas). O sombreamento proporcionado pela Z. tuberculosa, apesar de reduzir a produção de matéria seca (MS) da gramínea, favoreceu o aumento do teor de proteina bruta (PB) e não alterou a produção de PB/ha e nem afetou a concentração de FDN. Os teores de FDA foram mais altos que os encontrados a pleno sol, o que provavelmente resultou em menor degradabilidade in vitro da MS e da matéria orgânica, não alterando a degradabilidade efetiva.<br>The experiment was carried out in a Silvopastoral system (Sps) located in Brazilian Savannah, Lagoa Santa county, Minas Gerais State, during the agricultural year of 2004-2005. It was studied the influence of Sps formed by "Bolsa de Pastor" (Zeyheria tuberculosa) on the production, morphogenic attributes, bromatological composition and nutritional value of the graminaceous Brachiaria brizantha cv. Marandu as well as on the microclimatic aspects. The Sps was established in 1982, in a red-yellow latossol by the natural regeneration process. The experiment was based on a randomized block design, with 5 blocks (cutting times), 2 treatments (T1 - B. brizantha cv. Marandu shaded by Z. tuberculosa and T2 - B. brizantha cv. Marandu at open sky and three repetitions (plots). Although the DM production of the graminaceous in the Sps with Z. tuberculosa has reduced the level of crude protein (CP) has increased and the production of CP per ha and the Sps NDF concentration have remained unchanged. However, the levels of ADF were higher in the shaded area, which probably resulted in lower in vitro DM and organic matter degradability, but similar effective DM degradability