17 research outputs found
Monitoring circulating tumor DNA liquid biopsy in stage III BRAF-mutant melanoma patients undergoing adjuvant treatment
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
How accurate is an LCD screen version of the Pelli–Robson test?
Purpose: To evaluate the accuracy and repeatability of a computer-generated Pelli–Robson test displayed on liquid crystal display (LCD) systems compared to a standard Pelli–Robson chart. Methods: Two different randomized crossover experiments were carried out for two different LCD systems for 32 subjects: 6 females and 10 males (40.5 ± 13.0 years) and 9 females and 7 males (27.8 ± 12.2 years), respectively, in the first and second experiment. Two repeated measurements were taken with the printed Pelli–Robson test and with the LCDs at 1 and 3 m. To test LCD reliability, measurements were repeated after 1 week. Results: In Experiment 1, contrast sensitivity (CS) measured with LCD1 resulted significantly higher than Pelli–Robson both at 1 and at 3 m of about 0.20 log 1/C in both eyes (p < 0.01). Bland–Altman plots showed a proportional bias for LCD1 measures. LCD1 measurements showed reasonable repeatability: ICC was 0.83 and 0.65 at 1 and 3 m, respectively. In Experiment 2, CS measured with LCD2 resulted significantly lower than Pelli–Robson both at 1 and at 3 m of about 0.10 log 1/C in both eyes (p < 0.01). Bland–Altman plots did not show any proportional bias for LCD2 measures. LCD2 measurements showed sufficient repeatability: ICC resulted 0.51 and 0.65 at 1 and 3 m, respectively. Conclusions: Computer-generated versions of Pelli–Robson test, displayed on LCD systems, do not provide accurate results compared to classic Pelli–Robson printed version. Clinicians should consider that Pelli–Robson computer-generated versions could be non-interchangeable to the printed version
A heuristic algorithm for the electric freight vehicles charge scheduling problem
LAUREA MAGISTRALEL'introduzione dei veicoli elettrici nelle attività logistiche sta affrontando nuove sfide riguardanti in particolare la loro pianificazione operativa quotidiana. Una adeguata gestione di tutte le risorse possibili e una buona pianificazione degli orari sono elementi importanti per espandere l'utilizzo di veicoli elettrici per scopi commerciali. Di conseguenza, l'ottimizzazione di un problema di scheduling è fondamentale per ottenere buoni risultati in termini di costi e organizzazione.
Il lavoro sviluppato in questa tesi è focalizzato sull' “Electric Freight Vehicles Charge Scheduling Problem (EFV-CSP)”, introdotto da Pelletier, Jabali e Laporte 2018. Il paper propone un modello di ottimizzazione finalizzato alla riduzione dei costi legati alla ricarica di una flotta di veicoli elettrici per il trasporto di merci, tenendo conto di un processo di ricarica realistico, delle fasce orarie di consumo, del degrado della batteria, delle restrizioni della rete elettrica e degli oneri di richiesta relativi all’impianto. Lo scopo di questa tesi è sviluppare un algoritmo euristico per la soluzione di EFV-CSP, al fine di trovare risultati quasi ottimali in breve tempo. L'algoritmo euristico finale è il risultato dell'analisi di diversi algoritmi, finalizzati al miglioramento progressivo della soluzione. Tramite dei test, generati variando le caratteristiche dei tragitti percorsi dai veicoli, viene dimostrata l'efficacia dell'algoritmo euristico. Si analizzano inoltre i vari risultati trovati in base alle diverse configurazioni adottate.The introduction of electric vehicles in logistics activities is facing new challenges concerning in particular their daily operational planning. A proper management of all possible resources and a good scheduling procedure are important elements to expand the use of electric vehicles for commercial purposes. As a consequence, the optimization of a scheduling problem is essential to obtain good results in terms of costs and organization.
The work developed in this thesis is focused on the "Electric Freight Vehicles Charge Scheduling Problem (EFV-CSP)", introduced by Pelletier, Jabali and Laporte 2018. The paper proposes an optimization model aimed at reducing the costs related to the charging of a fleet of fright electric vehicles, taking into account a realistic charging process, time-dependent energy costs, battery degradation, grid restrictions, and facility-related demand charges. The aim of this thesis is to develop a heuristic algorithm for the solution of EFV-CSP, in order to find near optimal results in a short time. The heuristic algorithm is the result of the analysis of different algorithms, aimed at sequentially improving the solution. The effectiveness of the heuristic algorithm is demonstrated through some tests, generated by varying the characteristics of the routes performed by the vehicles. The different results, obtained from the different configurations adopted, are also analyzed
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
AbstractShort term treatment with low doses of glucocorticoid analogues has been shown to ameliorate neurological symptoms in Ataxia–Telangiectasia (A–T), a rare autosomal recessive multisystem disease that mainly affects the cerebellum, immune system, and lungs. Molecular mechanisms underlying this clinical observation are unclear. We aimed at evaluating the effect of dexamethasone on the induction of alternative ATM transcripts (ATMdexa1). We showed that dexamethasone cannot induce an alternative ATM transcript in control and A–T lymphoblasts and primary fibroblasts, or in an ATM-knockout HeLa cell line. We also demonstrated that some of the reported readouts associated with ATMdexa1 are due to cellular artifacts and the direct induction of γH2AX by dexamethasone via DNA-PK. Finally, we suggest caution in interpreting dexamethasone effects in vitro for the results to be translated into a rational use of the drug in A–T patients.</jats:p
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
Autosomal recessive inherited ataxias are a growing group of genetic disorders. We report two Italian siblings presenting in their mid-50s with difficulty in walking, dysarthria and progressive cognitive decline. Visual loss, ascribed to glaucoma, manifested a few years before the other symptoms. Brain MRI showed severe cerebellar atrophy, prevalent in the vermis, with marked cortical atrophy of both hemispheres. Exome sequencing identified a novel homozygous mutation (c.935G > A;p.Ser312Asn) in the ceroid neuronal lipofuscinosis type 5 gene (CLN5). Bioinformatics predictions and in vitro studies showed that the mutation was deleterious and likely affects ER-lysosome protein trafficking. Our findings support CLN5 hypomorphic mutations cause autosomal recessive cerebellar ataxia, confirming other reports showing CLN mutations are associated with adult-onset neurodegenerative disorders. We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia
