Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

Objective: To determine whether a set of functional tests, clinical scales, patient-reported questionnaires, and specific biomarkers can be considered reliable outcome measures in patients with primary mitochondrial myopathy (PMM), we analyzed a cohort of Italian patients. Methods: Baseline data were collected from 118 patients with PMM, followed by centers of the Italian network for mitochondrial diseases. We used the 6-Minute Walk Test (6MWT), Timed Up-and-Go Test (x3) (3TUG), Five-Times Sit-To-Stand Test (5XSST), Timed Water Swallow Test (TWST), and Test of Masticating and Swallowing Solids (TOMASS) as functional outcome measures; the Fatigue Severity Scale and West Haven-Yale Multidimensional Pain Inventory as patient-reported outcome measures; and FGF21, GDF15, lactate, and creatine kinase (CK) as biomarkers. Results: A total of 118 PMM cases were included. Functional outcome measures (6MWT, 3TUG, 5XSST, TWST, and TOMASS) and biomarkers significantly differed from healthy reference values and controls. Moreover, functional measures correlated with patients' perceived fatigue and pain severity. Patients with either mitochondrial or nuclear DNA point mutations performed worse in functional measures than patients harboring single deletion, even if the latter had an earlier age at onset but similar disease duration. Both the biomarkers FGF21 and GDF15 were significantly higher in the patients compared with a matched control population; however, there was no relation with severity of disease. Conclusions: We characterized a large cohort of PMM by evaluating baseline mitochondrial biomarkers and functional scales that represent potential outcome measures to monitor the efficacy of treatment in clinical trials; these outcome measures will be further reinvestigated longitudinally to define the natural history of PMM

D3.1 Improved timetable planning

In ARCC project work package 3, research and innovation activities have been done to identify areas with a need for improved timetable planning methods and outline how new methods can be developed and implemented. Improved timetable planning scope were described and there was an activity to connect to other relevant Shift2Rail projects. An workshop was organised in Stockholm 2018-05-29. State of the art in practice was described for timetable planning in Sweden, UIC 406 method and Ansaldo STS Traffic management systems. Also state of the art in algorithms was described. Future work plan research needs areas are: 1. Understanding of various goals for timetabling and how they co-variate 2. Residual capacity 3. Connection and coordination of the planning processes 4. Connection and coordination of the yard/terminal planning and network planning 5. Integration of freight trains into the timetable, focusing on short-term and ad-hoc 6. Integration of maintenance scheduling and timetabling, at all planning stages 7. Improved decision support for handeling of deviations from timetable in operations 8. Features of planning tools, and implementation of automatized timetablingPeterson är "main editor".Övriga författare är "Medarbetare/bidragsgivare".Automated Rail Cargo Consortium: Rail freight automation research activities to boost levels of quality, efficiency and cost effectiveness in all areas of rail freight operation