Yield of comparative genomic hybridization microarray in pediatric neurology practice

OBJECTIVE: The present study investigated the diagnostic yield of array comparative genomic hybridization (aCGH) in a large cohort of children with diverse neurologic disorders as seen in child neurology practice to test whether pathogenic copy number variants (CNVs) were more likely to be detected in specific neurologic phenotypes. METHODS: A retrospective cross-sectional analysis was performed on 555 children in whom a genetic etiology was suspected and who underwent whole-genome aCGH testing between 2006 and 2012. Neurologic phenotyping was performed using hospital medical records. An assessment of pathogenicity was made for each CNV, based on recent developments in the literature. RESULTS: Forty-seven patients were found to carry a pathogenic CNV, giving an overall diagnostic yield of 8.59%. Certain phenotypes predicted for the presence of a pathogenic CNV, including developmental delay (odds ratio [OR] 3.69 [1.30–10.51]), cortical visual impairment (OR 2.73 [1.18–6.28]), dysmorphism (OR 2.75 [1.38–5.50]), and microcephaly (OR 2.16 [1.01–4.61]). The combination of developmental delay/intellectual disability with dysmorphism and abnormal head circumference was also predictive for a pathogenic CNV (OR 2.86 [1.02–8.00]). For every additional clinical feature, there was an increased likelihood of detecting a pathogenic CNV (OR 1.18 [1.01–1.38]). CONCLUSIONS: the use of aCGH led to a pathogenic finding in 8.59% of patients. The results support the use of aCGH as a first tier investigation in children with diverse neurologic disorders, although whole-genome sequencing may replace aCGH as the detection method in the future. In particular, the yield was increased in children with developmental delay, dysmorphism, cortical visual impairment, and microcephaly

Numerical and experimental analysis of wrinkling during the cup drawing of an AA5042 aluminium alloy

The recent trend to reduce the thickness of metallic sheets used in forming processes strongly increases the likelihood of the occurrence of wrinkling. Thus, in order to obtain defect-free components, the prediction of this kind of defect becomes extremely important in the tool design and selection of process parameters. In this study, the sheet metal forming process proposed as a benchmark in the Numisheet 2014 conference is selected to analyse the influence of the tool geometry on wrinkling behaviour, as well as the reliability of the developed numerical model. The side-wall wrinkling during the deep drawing process of a cylindrical cup in AA5042 aluminium alloy is investigated through finite element simulation and experimental measurements. The material plastic anisotropy is modelled with an advanced yield criterion beyond the isotropic (von Mises) material behaviour. The results show that the shape of the wrinkles predicted by the numerical model is strongly affected by the finite element mesh used in the blank discretization. The accurate modelling of the plastic anisotropy of the aluminium alloy yields numerical results that are in good agreement with the experiments, particularly the shape and location of the wrinkles. The predicted punch force evolution is strongly influenced by the friction coefficient used in the model. Moreover, the two punch geometries provide drawn cups with different wrinkle waves, mainly differing in amplitude.The authors gratefully acknowledge the financial support of the Portuguese Foundation for Science and Technology (FCT) under project PTDC/EMS-TEC/1805/2012. The first author is also grateful to the FCT for the Postdoctoral grant SFRH/BPD/101334/2014 and P.D. Barros is grateful to the FCT for the PhD Grant SFRH/BD/98545/2013info:eu-repo/semantics/publishedVersio

Observation of the Baryonic Flavor-Changing Neutral Current Decay Lambda_b -> Lambda mu+ mu-

We report the first observation of the baryonic flavor-changing neutral current decay Lambda_b -> Lambda mu+ mu- with 24 signal events and a statistical significance of 5.8 Gaussian standard deviations. This measurement uses ppbar collisions data sample corresponding to 6.8fb-1 at sqrt{s}=1.96TeV collected by the CDF II detector at the Tevatron collider. The total and differential branching ratios for Lambda_b -> Lambda mu+ mu- are measured. We find B(Lambda_b -> Lambda mu+ mu-) = [1.73+-0.42(stat)+-0.55(syst)] x 10^{-6}. We also report the first measurement of the differential branching ratio of B_s -> phi mu+ mu- using 49 signal events. In addition, we report branching ratios for B+ -> K+ mu+ mu-, B0 -> K0 mu+ mu-, and B -> K*(892) mu+ mu- decays.Comment: 8 pages, 2 figures, 4 tables. Submitted to Phys. Rev. Let