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The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres. In total, we analysed the neurological features and mutation spectrum in 19 new SCEH/HIBCH patients. For natural history studies and phenotype to genotype associations we also included 70 previously reported patients. The 19 newly identified cases presented with Leigh syndrome (SCEH, n = 11; HIBCH, n = 6) and paroxysmal dystonia (SCEH, n = 2). Basal ganglia lesions (18 patients) were associated with small cysts in the putamen/pallidum in half of the cases, a characteristic hallmark for diagnosis. Eighteen pathogenic variants were identified, 11 were novel. Among all 89 cases, we observed a longer survival in HIBCH compared to SCEH patients, and in HIBCH patients carrying homozygous mutations on the protein surface compared to those with variants inside/near the catalytic region. The SCEH p.(Ala173Val) change was associated with a milder form of paroxysmal dystonia triggered by increased energy demands. In a child harbouring SCEH p.(Ala173Val) and the novel p.(Leu123Phe) change, an 83.6% reduction of the protein was observed in fibroblasts. The SCEH and HIBCH defects in the catabolic valine pathway were a frequent cause of Leigh syndrome in our cohort. We identified phenotype and genotype associations that may help predict outcome and improve clinical management.

This work proposes an Adaptive Haptic Aid system that adapts the amount of provided aid based on actual pilot performance. This is achieved by parameterizing the haptic system and adjusting the parameters on-line to match a desired closed loop performance. The parameters of the haptic aid are adjusted using a technique known as Model Reference Adaptive Control (MRAC), which has been widely studied in past years and applied to automatic control of plants with unknown dynamics. Simulations and experimental tests with naive and expert pilots show that the proposed Adaptive Haptic Aid system represents a promising solution for haptic aid design.

The H2020 WiMUST (Widely scalable Mobile Underwater Sonar Technology) project aimed at expanding and improving the functionalities of current cooperative marine robotic systems, effectively enabling distributed acoustic array technologies for geophysical surveying with a view to ocean exploration and geotechnical applications. The paper includes a brief overview of the WiMUST project and a short description of the final experimental results at sea obtained with a group of 7 autonomous marine vehicles equipped with two acoustic sparkers and streamers with hydrophone arrays.

L’Atlante cerca di fornire uno strumento agile e comprensibile per conoscere la realtà vitivinicola italiana e per far ciò abbiamo deciso di adottare una scala di analisi realizzando una proposta territoriale più ampia. Per fare ciò abbiamo scelto come criterio guida i più significativi elementi alla base di un terroir, realizzando una nuova unità di lettura del territorio vitivinicolo italiano: le macroaree. Più comprenderemo quanto sia unico il nostro Paese, tanto più crescerà la consapevolezza dell’unicità dei nostri vini nel mondo.

The sense of telepresence is known to be essential in teleoperation environments, where the operator is physically separated from the vehicle. Usually only a visual feedba ck is provided, but it has been shown that by extending the visual interface with haptic feedback, that is complementing the visual information through the sense of touch, the teleoperat or has a better perception of information from the remote environment and its constraints. This paper focuses on a novel concept of haptic cueing for an airborne obstacle avoidance task; the novel cueing algorithm was designed to appear “natural” to the operator, and to improve the human-machine interface without directly acting on the actual aircraft commands. Two different haptic aiding concepts for obstacle avoidance support are presented: an existing and widely used system, belonging to what we called the Direct Haptic Aid (DHA) approach class, and a novel one based on the Indirect Haptic Aid (IHA) approach class. Tests with human operators show that a net improvement in terms of performance (i.e., the number of collisions) is provided by employing the IHA haptic cue as compared to both the DHA haptic cue and/or the visual cues only. The results clear ly show that the IHA philosophy is a valid alternative to the other commonly used approaches, which fall in the DHA category.