242 research outputs found

    Un frammento inedito di Leon Battista Alberti sul fuoco

    No full text
    The author publishes the initial fragment of an unknown treatise by Leon Battista Alberti on the casting of statues written around 1455 and preserved in cod. Ottob. lat. 1870. The fragment contains a discussion on the nature of light and the element of fire

    Appunti sulla prima fortuna basileese e francese dello Zodiacus Vitae del Palingenio.

    No full text
    Si dà notizia della fortuna di Palingenio presso Giovanni Herold, amico dell'Aretino, presso l'antirabelaisiano Poutherbe e presso Scevola di Sainte Marth

    A parabolic inverse problem with mixed boundary data. Stability estimates for the unknown boundary and impedance

    No full text
    We consider the problem of determining an unaccessible part of the boundary of a conductor by mean of thermal measurements. We study a problem of corrosion where a Robin type condition is prescribed on the damaged part and we prove logarithmic stability estimate

    Parameter identification for the linear wave equation with Robin boundary condition.

    No full text
    We consider an initial-boundary value problem for the classical linear wave equation, where mixed boundary conditions of Dirichlet and Neumann/Robin type are enforced at the endpoints of a bounded interval. First, by a careful application of the method of characteristics, we derive a closed-form representation of the solution for an impulsive Dirichlet data at the left endpoint, and valid for either a Neumann or a Robin data at the right endpoint. Then we devise a reconstruction procedure for identifying both the interval length and the Robin parameter. We provide a corresponding stability result and verify numerically its performance moving from a finite element discretization

    Identification and validation of loss of function variants in clinical contexts

    No full text
    The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increasingly more important in translational medicine projects and clinical contexts. Within GOSgene, which facilitates genetic analysis as part of a joint effort of the University College London and the Great Ormond Street Hospital, we aimed to optimize a variant calling pipeline suitable for our clini- cal context. We implemented the GATK/Queue framework and evaluated the performance of its two callers: the classical UnifiedGenotyper and the new vari- ant discovery tool HaplotypeCaller. We performed an experimental validation of the loss-of-function (LoF) variants called by the two methods using Seque- nom technology. UnifiedGenotyper showed a total validation rate of 97.6% for LoF single-nucleotide polymorphisms (SNPs) and 92.0% for insertions or dele- tions (INDELs), whereas HaplotypeCaller was 91.7% for SNPs and 55.9% for INDELs. We confirm that GATK/Queue is a reliable pipeline in translational medicine and clinical context. We conclude that in our working environment, UnifiedGenotyper is the caller of choice, being an accurate method, with a high validation rate of error-prone calls like LoF variants. We finally highlight the importance of experimental validation, especially for INDELs, as part of a stan- dard pipeline in clinical environments

    Neoligamentization process of BTPB used for ACL graft: Histological evaluation from 6 months to 10 years

    No full text
    Following anterior cruciate ligament (ACL) reconstruction with the middle third part patellar tendon, the graft undergoes histological rearrangement due to biomechanical action, which transforms it into a structure similar to the normalACL. The purpose of our study was to make a qualitative and quantitative histological evaluation, by transmission electron microscopy (TEM), of the neoligamentization process of a bone– patellar tendon–bone (BTPB) graft used as pro-ACL at different follow-up times.We analysed the ultrastructure of collagen fibrils by focusing on their size and distribution with respect to a normal patellar tendon and a normal ACL used as controls. Our results showed that up to 24 months follow-up, progressive ultrastructural changes towards the normal ACL were observed. At longer times after surgery (48 and 120 months) no further changes were evident and the ultrastructure showed a marked reduction in large fibrils, which was typical of the control patellar tendon, and a significant increase in small fibrils. The ultrastructure seemed to combine fibrils from two different morphological units. The BPTB graft used as ACL underwent a transformation process for up to two years. After that period the transformation ceased and for ten years failed to reach the ultrastructural aspect of a normal ACL. However, from an architectural point of view the graft was slowly transformed into a structure similar to ACL with respect to the different mechanical stresses the ligament has to sustain

    Identification and validation of loss of function variants in clinical contexts

    No full text
    The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increasingly more important in translational medicine projects and clinical contexts. Within GOSgene, which facilitates genetic analysis as part of a joint effort of the University College London and the Great Ormond Street Hospital, we aimed to optimize a variant calling pipeline suitable for our clinical context. We implemented the GATK/Queue framework and evaluated the performance of its two callers: the classical UnifiedGenotyper and the new variant discovery tool HaplotypeCaller. We performed an experimental validation of the loss-of-function (LoF) variants called by the two methods using Sequenom technology. UnifiedGenotyper showed a total validation rate of 97.6% for LoF single-nucleotide polymorphisms (SNPs) and 92.0% for insertions or deletions (INDELs), whereas HaplotypeCaller was 91.7% for SNPs and 55.9% for INDELs. We confirm that GATK/Queue is a reliable pipeline in translational medicine and clinical context. We conclude that in our working environment, UnifiedGenotyper is the caller of choice, being an accurate method, with a high validation rate of error-prone calls like LoF variants. We finally highlight the importance of experimental validation, especially for INDELs, as part of a standard pipeline in clinical environments
    corecore