678 research outputs found

    Bone Mineral Density in Severely Obese Women: Health Risk and Health Protective Risk Factors in Three Different Bone Sites

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    Factors associated with bone mineral density (BMD) are poorly known in severely obese individuals i.e., a body mass index (BMI) > 35 kg/m^{2}. The objectives of this study were to describe the bone health profile of severely obese Brazilian women, to identify the health risk and health protective factors for BMD in this group and to assess whether these factors vary according to three different bone sites. BMD was assessed using dual-energy X-ray absorptiometry (DXA). This study analyzed baseline data from 104 women who had an average BMI of 43.7 ± 4.5 kg/m^{2} and presented the following BMD status: 1.283 ± 0.094 g/cm2 for total body, 1.062 ± 0.159 g/cm^{2} for vertebral column and 1.195 ± 0.134 g/cm2 for hip. They took part in the “Effect of nutritional intervention and olive oil in severe obesity” randomized clinical trial (DieTBra Trial). The risk factors negatively associated with lower BMD were age ≥50 years for the three bone sites i.e., total body, vertebral column and hip. Smoking for total body BMD (p = 0.045); BMI ≥ 50kg/m^{2} for vertebral column and hip; menopause for hip; high C-reactive protein (CRP) levels (p = 0.049), insufficient zinc (p = 0.010) and previous fracture for vertebral column (p = 0.007). The protective factors positively associated with BMD were physical activity (≥150 min/week (p = 0.001)) for hip; type 2 diabetes mellitus (DM2) (p < 0.0001) total body and adequate vitamin D levels from food consumption (p = 0.039) for vertebral column. A BMI ≥ 50 kg/m^{2} was a risk factor for lower BMD. The findings showed that protective and risk factors varied by bone site. The original study is registered with ClinicalTrials.gov. (protocol number: NCT02463435)

    Comparison of performance of one-color and two-color gene-expression analyses in predicting clinical endpoints of neuroblastoma patients

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    Microarray-based prediction of clinical endpoints may be performed using either a one-color approach reflecting mRNA abundance in absolute intensity values or a two-color approach yielding ratios of fluorescent intensities. In this study, as part of the MAQC-II project, we systematically compared the classification performance resulting from one- and two-color gene-expression profiles of 478 neuroblastoma samples. In total, 196 classification models were applied to these measurements to predict four clinical endpoints, and classification performances were compared in terms of accuracy, area under the curve, Matthews correlation coefficient and root mean-squared error. Whereas prediction performance varied with distinct clinical endpoints and classification models, equivalent performance metrics were observed for one- and two-color measurements in both internal and external validation. Furthermore, overlap of selected signature genes correlated inversely with endpoint prediction difficulty. In summary, our data strongly substantiate that the choice of platform is not a primary factor for successful gene expression based-prediction of clinical endpoints

    Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector

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    Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente

    The First Bromeligenous Species of Dendropsophus (Anura: Hylidae) from Brazil\u27s Atlantic Forest

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    We describe a new treefrog species of Dendropsophus collected on rocky outcrops in the Brazilian Atlantic Forest. Ecologically, the new species can be distinguished from all known congeners by having a larval phase associated with rainwater accumulated in bromeliad phytotelms instead of temporary or lentic water bodies. Phylogenetic analysis based on molecular data confirms that the new species is a member of Dendropsophus; our analysis does not assign it to any recognized species group in the genus. Morphologically, based on comparison with the 96 known congeners, the new species is diagnosed by its small size, framed dorsal color pattern, and short webbing between toes IV-V. The advertisement call is composed of a moderate-pitched two-note call (~5 kHz). The territorial call contains more notes and pulses than the advertisement call. Field observations suggest that this new bromeligenous species uses a variety of bromeliad species to breed in, and may be both territorial and exhibit male parental care

    Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population

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    Germ-line mutations in BRCA1 breast cancer susceptibility gene account for a large proportion of hereditary breast cancer families and show considerable ethnic and geographical variations. The contribution of BRCA1 mutations to hereditary breast cancer has not yet been thoroughly investigated in Middle Eastern and North African populations. In this study, 16 Tunisian high-risk breast cancer families were screened for germline mutations in the entire BRCA1 coding region and exon–intron boundaries using direct sequencing. Six families were found to carry BRCA1 mutations with a prevalence of 37.5%. Four different deleterious mutations were detected. Three truncating mutations were previously described: c.798_799delTT (916 delTT), c.3331_3334delCAAG (3450 delCAAG), c.5266dupC (5382 insC) and one splice site mutation which seems to be specific to the Tunisian population: c.212 + 2insG (IVS5 + 2insG). We also identified 15 variants of unknown clinical significance. The c.798_799delTT mutation occurred at an 18% frequency and was shared by three apparently unrelated families. Analyzing five microsatellite markers in and flanking the BRCA1 locus showed a common haplotype associated with this mutation. This suggests that the c.798_799delTT mutation is a Tunisian founder mutation. Our findings indicate that the Tunisian population has a spectrum of prevalent BRCA1 mutations, some of which appear as recurrent and founding mutations
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