730 research outputs found

    Characterizations of quasitrivial symmetric nondecreasing associative operations

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    We provide a description of the class of n-ary operations on an arbitrary chain that are quasitrivial, symmetric, nondecreasing, and associative. We also prove that associativity can be replaced with bisymmetry in the definition of this class. Finally we investigate the special situation where the chain is finite

    On the role of distance transformations in Baddeley’s Delta Metric

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    Comparison and similarity measurement have been a key topic in computer vision for a long time. There is, indeed, an extensive list of algorithms and measures for image or subimage comparison. The superiority or inferiority of different measures is hard to scrutinize, especially considering the dimensionality of their parameter space and their many different configurations. In this work, we focus on the comparison of binary images, and study different variations of Baddeley's Delta Metric, a popular metric for such images. We study the possible parameterizations of the metric, stressing the numerical and behavioural impact of different settings. Specifically, we consider the parameter settings proposed by the original author, as well as the substitution of distance transformations by regularized distance transformations, as recently presented by Brunet and Sills. We take a qualitative perspective on the effects of the settings, and also perform quantitative experiments on separability of datasets for boundary evaluation.The authors gratefully acknowledge the financial support by the Spanish Ministry of Science (project PID2019-108392GB-I00 AEI/FEDER, UE), as well as that by Navarra Servicios y TecnologĂ­as S.A. (NASERTIC)

    Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected

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    ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the heterozygous state.MethodsWe studied a 36-year-old male index patient and his father, both presenting with progressive limb-girdle weakness. Muscle involvement was assessed by MRI and muscle biopsies. We performed whole-exome sequencing and Sanger sequencing for segregation analysis of the identified p.Arg159His VCP mutation. To dissect biological disease signatures, we applied state-of-the-art quantitative proteomics on muscle tissue of the index case, his father, 3 additional patients with VCP-related myopathy, and 3 control individuals.ResultsThe index patient, homozygous for the known p.Arg159His mutation in VCP, manifested a typical VCP-related myopathy phenotype, although with a markedly high creatine kinase value and a relatively early disease onset, and Paget disease of bone. The father exhibited a myopathy phenotype and discrete parkinsonism, and multiple deceased family members on the maternal side of the pedigree displayed a dementia, parkinsonism, or myopathy phenotype. Bioinformatic analysis of quantitative proteomic data revealed the degenerative nature of the disease, with evidence suggesting selective failure of muscle regeneration and stress granule dyshomeostasis.ConclusionWe report a patient showing a multisystem proteinopathy due to a homozygous VCP mutation. The patient manifests a severe phenotype, yet fundamental disease characteristics are preserved. Proteomic findings provide further insights into VCP-related pathomechanisms

    Hypertonie saline: effect on mucus rheology and spirometry

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