New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.

Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.

The characteristics of gait in Charcot-Marie-Tooth disease types I and II.

Certain typical gait characteristics such as foot-drop and foot supination are well described in Charcot-Marie-Tooth disease. These are directly related to the primary disease and due to the weakness of ankle dorsiflexors and everters characteristic of this hereditary neuropathy. We analysed 16 subjects aged 8-52 years old (11 with type I, 5 with type II Charcot-Marie-Tooth disease) using three-dimensional gait analysis and identified kinematic features previously unreported. These patients showed a combination of tight tendo achillei, foot-drop, failure of plantar flexion and increased foot supination, but also presented with excessive internal rotation of the knee and/or tibia, knee hyperextension in stance, excessive external rotation at the hips and decreased hip adduction in stance (typical of a broad based gait). These proximal features could have been an adaptation to or consequence of the disrupted ankle and foot biomechanics, however a direct relation to the neuropathy is also possible since sub-normal muscle power was observed at the proximal levels in most subjects on both manual testing and kinetic analysis. Gait analysis is a useful tool in defining the characteristic gait of patients with Charcot-Marie-Tooth disease.

The malaria circumsporozoite protein has two functional domains, each with distinct roles as sporozoites journey from mosquito to mammalian host.

Plasmodium sporozoites make a remarkable journey from the mosquito midgut to the mammalian liver. The sporozoite's major surface protein, circumsporozoite protein (CSP), is a multifunctional protein required for sporozoite development and likely mediates several steps of this journey. In this study, we show that CSP has two conformational states, an adhesive conformation in which the C-terminal cell-adhesive domain is exposed and a nonadhesive conformation in which the N terminus masks this domain. We demonstrate that the cell-adhesive domain functions in sporozoite development and hepatocyte invasion. Between these two events, the sporozoite must travel from the mosquito midgut to the mammalian liver, and N-terminal masking of the cell-adhesive domain maintains the sporozoite in a migratory state. In the mammalian host, proteolytic cleavage of CSP regulates the switch to an adhesive conformation, and the highly conserved region I plays a critical role in this process. If the CSP domain architecture is altered such that the cell-adhesive domain is constitutively exposed, the majority of sporozoites do not reach their target organs, and in the mammalian host, they initiate a blood stage infection directly from the inoculation site. These data provide structure-function information relevant to malaria vaccine development.

Surface characterization techniques for determining the root-mean-square roughness and power spectral densities of optical components

Surface topography and light scattering were measured on 15 samples ranging from those having smooth surfaces to others with ground surfaces. The measurement techniques included an atomic force microscope, mechanical and optical profilers, confocal laser scanning microscope, angle-resolved scattering, and total scattering. The samples included polished and ground fused silica, silicon carbide, sapphire, electroplated gold, and diamond-turned brass. The measurement instruments and techniques had different surface spatial wavelength band limits, so the measured roughnesses were not directly comparable. Two-dimensional power spectral density (PSD) functions were calculated from the digitized measurement data, and we obtained rms roughnesses by integrating areas under the PSD curves between fixed upper and lower band limits. In this way, roughnesses measured with different instruments and techniques could be directly compared. Although smaller differences between measurement techniques remained in the calculated roughnesses, these could be explained mostly by surface topographical features such as isolated particles that affected the instruments in different ways.

Humic Haplustox under different land uses in a high altitude environment in the Agreste region of Pernambuco, Brazil

The Garanhuns Plateau in the Agreste region of the State of Pernambuco, Brazil is characterized by humid climatic conditions due to orographic rains, unlike the surrounding semiarid region. These soils are subjected to intense agricultural use and are extremely important for the regional economy. This study was carried out in the municipality of Brejão in the Agreste region with the aim of assessing changes in humic Haplustox soils subjected to different land uses. Four plots with different vegetation covers (native forest, secondary shrubby vegetation (capoeira), traditional cropping system, and planted pasture) were selected, and samples were taken from a soil profile and four small pits surrounding it at each site. Physical and chemical properties were assessed, including aggregate stability, humic organic fractions, and a microbiological evaluation through determination of basal respiration, microbial biomass carbon, and metabolic quotient. The soils under study showed physical and chemical properties typical of a Haplustox, such as low nutrient content, low cation exchange capacity, and high levels of acidity and Al saturation. The total organic carbon (TOC) contents were high regardless of the type of land use. Aggregates < 2 mm were dominant in all the conditions under study. The TOC content was higher in the soil under capoeira, 43.91 g kg-1 on the surface, while 34.36 and 33.43 g kg-1 of TOC were observed in the first layer of forest and pasture soils, respectively. While the microbial biomass C (MBC) was greater than 700 mg kg-1 in the forest and pasture areas (in the 0-5 cm layer), and 588 mg kg-1 in the soil under capoeira, these numbers were not statistically different. In the cultivated soil area, there was a reduction of around 28 % in TOC and MBC contents. Agricultural activity contributed to degradation of the humic horizon, as can be seen from a significant decrease in the TOC and changes in the relative distribution of the humic fractions. In contrast, aggregate stability was not altered as a function of the different land uses; the soil under planted pasture and capoeira were similar to the soil under native forest. Humin was the most important humified fraction for C reserves, contributing over 40 % of the TOC in these soils.

Surveillance of adenoviruses and noroviruses in European recreational waters

Exposure to human pathogenic viruses in recreational waters has been shown to cause disease outbreaks. In the context of Article 14 of the revised European Bathing Waters Directive 2006/7/EC (rBWD, CEU, 2006) a Europe-wide surveillance study was carried out to determine the frequency of occurrence of two human enteric viruses in recreational waters. Adenoviruses were selected based on their near-universal shedding and environmental survival, and noroviruses (NoV) selected as being the most prevalent gastroenteritis agent worldwide. Concentration of marine and freshwater samples was done by adsorption/elution followed by molecular detection by (RT)-PCR. Out of 1410 samples, 553 (39.2%) were positive for one or more of the target viruses. Adenoviruses, detected in 36.4% of samples, were more prevalent than noroviruses (9.4%), with 3.5% GI and 6.2% GII, some samples being positive for both GI and GII. Of 513 human adenovirus-positive samples, 63 (12.3%) were also norovirus-positive, whereas 69 (7.7%) norovirus-positive samples were adenovirus-negative. More freshwater samples than marine water samples were virus-positive. Out of a small selection of samples tested for adenovirus infectivity, approximately one-quarter were positive. Sixty percent of 132 nested-PCR adenovirus-positive samples analysed by quantitative PCR gave a mean value of over 3000 genome copies per L of water. The simultaneous detection of infectious adenovirus and of adenovirus and NoV by (RT)PCR suggests that the presence of infectious viruses in recreational waters may constitute a public health risk upon exposure. These studies support the case for considering adenoviruses as an indicator of bathing water quality.

Herança da estatura de planta e do comprimento da panícula principal no cruzamento entre Avena Sativa L. e Avena Sterilis L.

A espécie selvagem Avena sterilis L. tem sido amplamente utilizada para cruzamento com aveia cultivada, pela alta afinidade existente entre ambas, o que possibilita um aumento na variabilidade genética e transferência de genes de importância agronômica. Entretanto, caracteres indesejáveis, como a alta estatura e um maior comprimento de panícula, podem ser transferidos à progênie. Nesse sentido, com o objetivo de avaliar a variabilidade genética, bem como a herança em cruzamentos entre Avena sativa L. e Avena sterilis L., foram mensurados os caracteres estatura de planta e comprimento da panícula principal. As variâncias fenotípicas e genéticas foram altas e as variâncias de ambiente foram baixas, proporcionando uma alta herdabilidade no sentido amplo. O efeito gênico de aditividade foi o mais importante para explicar a variação genética em ambos os caracteres.

Characterization for plant height and flowering date in the biological species oat

The use of wild oat races in artificial hybridization with cultivated oat (Avena sativa L.) has been used as a way of increasing the variability. This work aimed to identify the variability for plant height and flowering date of groups of cultivated oat genotypes, wild introductions of A. fatua L. and segregating populations of natural crosses between A. sativa and A. fatua. Wide genetic variability was observed for both traits in the groups and between them. The wild group of A. fatua L. showed high plants with early maturity, but in the segregating group there was reduced plant height and early maturity. The wild introductions of A. fatua L. studied in this work can be used in oat breeding programs to increase genetic variability by transferring specific characters into the cultivated germ plasm.

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR) was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9x10(-11)) and MSRA (WC, P = 8.9x10(-9)). A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6x10(-8)). The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity.

Cinética de absorção de amônio e crescimento radicular das cultivares de arroz Agulha e Bico Ganga

Este trabalho teve por objetivo avaliar, em dois estádios de desenvolvimento, o crescimento do sistema radicular e a cinética de absorção de amônio das cultivares de arroz Agulha e Bico Ganga, procedentes do Estado do Maranhão. As plantas (25 e 50 dias de idade) cresceram em casa de vegetação, emsolução nutritiva, com quatro níveis de N (20, 40, 60 e 80 mg L-1). Os valores de Vmáx, K M e Cmín foram determinados empregando-se um processo gráfico-matemático. A cultivar Bico Ganga apre-sentou maiores valores de Vmáx e menores de Cmín, aos 25 e 50 dias de idade, nos níveis de 20 e 40 mg L-1 de N, enquanto em altos níveis de N (60 e 80 mg L-1), os maiores valores de Vmáx e menores de Cmín ocorreram na cultivar Agulha. Tanto aos 25 quanto aos 50 dias, a Bico Ganga apresentou maior área radicular, maior produção de matéria fresca e seca de raiz e parte aérea, e maior eficiência de acumulação de N e síntese de proteína na parte aérea. Esses resultados sugerem que a Bico Ganga, por ser uma cultivar local mais antiga que a Agulha, estaria melhor adaptada ao estresse nutricional em ambientes tropicais.

Common variants near MC4R are associated with fat mass, weight and risk of obesity.

To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 x 10(-15)) and 5,988 children aged 7-11 (0.13 Z-score units; P = 1.5 x 10(-8)). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 x 10(-11)). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 x 10(-4)). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits.

Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies.

Whole-grain foods are touted for multiple health benefits, including enhancing insulin sensitivity and reducing type 2 diabetes risk. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) associated with fasting glucose and insulin concentrations in individuals free of diabetes. We tested the hypothesis that whole-grain food intake and genetic variation interact to influence concentrations of fasting glucose and insulin. Via meta-analysis of data from 14 cohorts comprising ∼ 48,000 participants of European descent, we studied interactions of whole-grain intake with loci previously associated in GWAS with fasting glucose (16 loci) and/or insulin (2 loci) concentrations. For tests of interaction, we considered a P value <0.0028 (0.05 of 18 tests) as statistically significant. Greater whole-grain food intake was associated with lower fasting glucose and insulin concentrations independent of demographics, other dietary and lifestyle factors, and BMI (β [95% CI] per 1-serving-greater whole-grain intake: -0.009 mmol/l glucose [-0.013 to -0.005], P < 0.0001 and -0.011 pmol/l [ln] insulin [-0.015 to -0.007], P = 0.0003). No interactions met our multiple testing-adjusted statistical significance threshold. The strongest SNP interaction with whole-grain intake was rs780094 (GCKR) for fasting insulin (P = 0.006), where greater whole-grain intake was associated with a smaller reduction in fasting insulin concentrations in those with the insulin-raising allele. Our results support the favorable association of whole-grain intake with fasting glucose and insulin and suggest a potential interaction between variation in GCKR and whole-grain intake in influencing fasting insulin concentrations.

Efeito de época de semeadura e adubação na mancha-foliar de Phaeosphaeria em milho

O aumento da área de cultivo de milho, aliado a algumas práticas culturais, tem favorecido o surgimento da mancha-foliar causada pelo fungo Phaeosphaeria maydis. Como conseqüência, o rendimento de grãos tem decrescido, especialmente em áreas com plantio direto e maior amplitude da época de semeadura. O trabalho teve como objetivo avaliar a severidade de P. maydis em seis híbridos de milho, em cinco épocas de semeadura e em dois níveis de adubação. O experimento foi conduzido em Xanxerê, SC, na safra 1997/98, em blocos casualizados, com parcelas subdivididas, em duas repetições. As plantas foram avaliadas 30 dias após o florescimento, e a porcentagem da área foliar afetada foi registrada. Na medida em que a semeadura do milho foi retardada, houve um aumento na severidade da moléstia e uma redução no rendimento de grãos. As doses de adubação não apresentaram diferença quanto à severidade da moléstia. O mês de setembro apresentou menor severidade da mancha-foliar e maior rendimento de grãos. Houve uma correlação significativa entre o rendimento de grãos e a severidade da moléstia.