221 research outputs found

    Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype.

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    It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome. In particular, individuals with a Cys634-Arg substitution should have a greater risk of developing parathyroid disease. We, therefore, analyzed 94 unrelated families from Germany with inherited medullary thyroid carcinoma (MTC) for mutation of the ret protooncogene. In all but 1 of 59 families with MEN 2A, germline mutations in the extracellular domain of the ret protein were found. Some 81% of the MEN 2A mutations affected codon 634. Phenotype-genotype correlations suggested that the prevalence of pheochromocytoma and hyperparathyroidism is significantly higher in families with codon 634 mutations, but there was no correlation with the nature of the mutation. In all but 1 of 27 familial MTC (FMTC) families, mutations were detected in 1 of 4 cysteines in the extracellular domain of the ret protooncogene. Half of the FMTC mutations affected codon 634. Mutations outside of codon 634 occurred more often in FMTC families than in MEN 2A families. In all but 1 of 8 MEN 2B patients, de novo mutations in codon 918 were found. These data confirm the preferential localization of MEN 2-associated mutations and the correlation between disease phenotype and the position of the ret mutation, but there was no correlation between the occurrence of hyperparathyroidism or pheochromocytoma and the nature of the mutation

    Subcritical behaviour and stability of a rigid rotor supported by undulated journal bearings

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    The work presented in this contribution was supported by the projects of the Czech Science Foundation No. 22-29874S and 21-16406S

    Analysis of autoparametric double pendulum

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    This research work was supported by the Czech Science Foundation project 23-07280S entitled ”Identification and compensation of imperfections and friction effects in joints of mechatronic systems”

    Influence of static unbalance on rotors with various journal bearing types

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    This paper was supported by the Technology Agency of the Czech Republic under the THETA Programme within the TK04020057 project

    Local phenomena in tilting-pad journal bearing’s pivot

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    the THETA Programme within the TK04020057 project

    Vibration analysis of a vertical rotor immersed in fluid at extreme operating temperatures

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    This publication was supported by the project 22-29874S of the Czech Science Foundation. The usage of the AVL Excite software in the framework of the University Partnership Program of AVL List GmbH is greatly acknowledge

    Metaheuristics for solving a multimodal home-healthcare scheduling problem

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    Abstract We present a general framework for solving a real-world multimodal home-healthcare scheduling (MHS) problem from a major Austrian home-healthcare provider. The goal of MHS is to assign home-care staff to customers and determine efficient multimodal tours while considering staff and customer satisfaction. Our approach is designed to be as problem-independent as possible, such that the resulting methods can be easily adapted to MHS setups of other home-healthcare providers. We chose a two-stage approach: in the first stage, we generate initial solutions either via constraint programming techniques or by a random procedure. During the second stage, the initial solutions are (iteratively) improved by applying one of four metaheuristics: variable neighborhood search, a memetic algorithm, scatter search and a simulated annealing hyper-heuristic. An extensive computational comparison shows that the approach is capable of solving real-world instances in reasonable time and produces valid solutions within only a few seconds

    On Cones of Nonnegative Quadratic Functions

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