Search results for "RRT"
showing 10 items of 14 documents
Estimation des incertitudes de mesure sur bras polyarticulé portable par méthode de Monte Carlo
2013
International audience; Les bras polyarticulés portables ont progressivement évolué et sont de plus en plus utilisés dans l’industrie. Cependant, à l’heure actuelle, la traçabilité de ces dispositifs est difficile à effectuer et les incertitudes de mesures relatives à l’utilisation de ces appareils ne sont pas quantifiées. Le travail mené consiste à déterminer les incertitudes de mesures associées à la quantification, par un bras polyarticulé portable, des caractéristiques géométriques et dimensionnelles d’une pièce mécanique. Les travaux visant à élaborer un modèle d’incertitude de mesure, sont basés sur la méthode de Monte Carlo du supplément 1 du Guide pour l'expression de l'incertitude …
Benign nocturnal alternating hemiplegia of childhood
2018
Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
2019
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…
PRRT2 mutations are the major cause of benign familial infantile seizures.
2012
Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large fami…
Creative LAB Alcamo. Una centralità creativa presso l’ex Collegio dei Gesuiti di Alcamo come polo culturale di riferimento del territorio
2015
Il sistema integrato di servizi culturali costituito dal Creative LAB Alcamo (CLA) è stato concepito come dispositivo di riqualificazione urbana e di sostegno allo sviluppo territoriale con la finalità interpretare, valorizzare con creatività e comunicare con efficacia l’identità del territorio alcamese. Il CLA prevede prioritariamente la messa a sistema delle risorse territoriali e del capitale urbano attraverso un più efficiente sistema di comunicazione, ideato sia per la popolazione locale in termini di riconoscibilità e identificazione nel proprio patrimonio culturale, sia per i fruitori ed i turisti in termini di offerta sistematica e organizzata di eventi culturali, di itinerari di vi…
Recommendation of RILEM TC237-SIB on cohesion test of recycled asphalt
2018
This recommendation describes how to evaluate the presence of potentially active bitumen in recycled asphalt (RA) materials through the cohesion test. The experimental protocol is designed according to the research performed by the RILEM Technical Committee 237-SIB ‘‘Testing and characterization of sustainable innovative bituminous materials and systems’’ with the purpose, to develop a new, simple and fast method for the characterization of RA while limiting the need for conventional rheological tests. The guidelines in this recommendation focus on the testing procedure including specimen preparation, data analysis and provide information on the preparation of a tests report.
Recommendation of RILEM TC237-SIB: protocol for characterization of recycled asphalt (RA) materials for pavement applications
2018
This recommendation proposes an experimental protocol to characterize Recycled Asphalt (RA) materials. The guidelines presented in this document are based on the results of a Round Robin Test (RRT) organized by the RILEM Technical Committee 237-SIB “Testing and characterization of sustainable innovative bituminous materials and systems” and provide information on the testing procedure, data analysis and indications for the preparation of a test report.
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
2020
Abstract Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. To date, KCNQ3 mutations have been detected in only four patients with BFIE. Here, we describe the clinical pattern and course of an additional individual with BFIE associated with a novel missense heterozygous KCNQ3 c.1850G>C variant inherited by his unaffected father. The incidence of KCNQ3 mutations among BFIE patients…
Therapeutic sequences in patients with grade 1−2 neuroendocrine tumors (NET): an observational multicenter study from the ELIOS group
2019
Purpose: Many different treatments are suggested by guidelines to treat grade 1−2 (G1−G2) neuroendocrine tumors (NET). However, a precise therapeutic algorithm has not yet been established. This study aims at identifying and comparing the main therapeutic sequences in G1−G2 NET. Methods: A retrospective observational Italian multicenter study was designed to collect data on therapeutic sequences in NET. Median progression-free survival (PFS) was compared between therapeutic sequences, as well as the number and grade of side effects and the rate of dose reduction/treatment discontinuation. Results: Among 1182 patients with neuroendocrine neoplasia included in the ELIOS database, 131 G1–G2 ga…
Lessons Learned on the Tensile and Bond Behavior of Fabric Reinforced Cementitious Matrix (FRCM) Composites
2020
Fabric Reinforced Cementitious Matrix (FRCM) composites represent an effective, compatible and cost-efficient solution for strengthening and retrofitting existing structures. A strong research effort was done to investigate the tensile and bond properties of these materials, as well as the overall behaviour of strengthened members. A Round Robin Test was organized by Rilem TC 250-CSM on 28 FRCM composites comprising basalt, carbon, glass, PBO, aramid and steel textiles, embedded in either cement, lime or geopolymer mortars, to collect an experimental dataset and define test protocols. This paper collects the outcomes of this study to highlight fundamental properties of FRCM and to investiga…