Publications

Mild cognitive impairment (MCI) is a state related to ageing, and sometimes evolves to dementia. As there is no pharmacological treatment for MCI, a non-pharmacological approach is very important. The use of Information and Communication Technologies (ICT) in care and assistance services for elderly people increases their chances of prolonging independence thanks to better cognitive efficiency. Robots are seen to have the potential to support the care and independence of elderly people. The project ENRICHME (funded by the EU H2020 Programme) focuses on developing and testing technologies for supporting elderly people with MCI in their living environment for a long time. This paper describes the results of the activities conducted during the first year of the ENRICHME project, in particular the definition of user needs and requirements and the resulting system architecture.

Background Depressed heart rate variability (HRV) is usually considered a negative long-term prognostic factor after acute myocardial infarction. Anyway, most of the supporting research was conducted before the era of immediate reperfusion by percutaneous coronary intervention (PCI). Main aim of this study was to evaluate if HRV still retains prognostic significance in our era of immediate PCI. Methods and results Two weeks after STEMI treated by primary PCI, time-domain HRV was assessed from 24-h Holter recordings in 186 patients: markedly depressed HRV (SDNN < 70 ms or < 50 ms) was present in 16% and in 5% of cases, respectively; patients with left ventricle ejection fraction (LVEF)  2 years from infarction, occurrence of major clinical events (MCE) was investigated. Cases with or without MCE did not differ by initial HRV parameters; Kaplan–Meier events-free survival curves were similar between patients with lowest quartile SDNN and the remaining ones (χ2 0.981, p = 0.322). By the contrary, events-free survival was worse if patients walked shorter distances at 6MWT (χ2 6.435, p = 0.011), developed poorer ventilatory efficiency at CPET (χ2 10.060, p = 0.002), or presented LVEF < 40% (χ2 7.085, p = 0.008). Conclusions In primary-PCI STEMI patients, markedly abnormal HRV was found in a small percentage of cases. HRV seems to have lost its prognostic significance, while parameters indicating LV function (LVEF and physical performance) could allow better prognostication in primary-PCI STEMI patients.

We investigate how incremental learning of long-term human activity patterns improves the accuracy of activity classification over time. Rather than trying to improve the classification methods themselves, we assume that they can take into account prior probabilities of activities occurring at a particular time. We use the classification results to build temporal models that can provide these priors to the classifiers. As our system gradually learns about typical patterns of human activities, the accuracy of activity classification improves, which results in even more accurate priors. Two datasets collected over several months containing hand-annotated activity in residential and office environments were chosen to evaluate the approach. Several types of temporal models were evaluated for each of these datasets. The results indicate that incremental learning of daily routines leads to a significant improvement in activity classification.

Involvement of the peripheral nervous system in mitochondrial disorders has been previously reported. However, the prevalence of peripheral neuropathy in mitochondrial disorders is still unclear. Based on the large database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, we reviewed the clinical data of 1200 patients, with special regard to peripheral neuropathy (mean age at onset 24.3 ± 20.1 years; age at last evaluation 39.8 ± 22.3 years; females 52.7%; childhood onset [before age 16 years] 43.1%). Peripheral neuropathy was present in 143/1156 patients (12.4%), being one of the ten most common signs and symptoms. POLG mutations cause a potentially painful, axonal/mixed, mainly sensory polyneuropathy; TYMP mutations lead to a demyelinating sensory-motor polyneuropathy; SURF1 mutations are associated with a demyelinating/mixed sensory-motor polyneuropathy. The only mtDNA mutation consistently associated with peripheral neuropathy (although less severely than in the above-considered nuclear genes) was the m.8993T > G (or the rarer T > C) changes, which lead to an axonal, mainly sensory polyneuropathy. In conclusion, peripheral neuropathy is one of the most common features of a mitochondrial disorder, and may negatively impact on the quality of life of these patients. Furthermore, the presence or absence of peripheral neuropathy, as well as its specific forms and the association with neuropathic pain (indicative of a POLG-associated disease) can guide the molecular analysis.

Abstract: We obtain a four-dimensional supergravity with spontaneously broken super-symmetry allowing for de Sitter vacua by coupling a superspace action of minimal N = 1, D = 4 supergravity to a locally supersymmetric generalization of the Volkov-Akulov goldstino action describing the dynamics of a space-filling non-BPS 3-brane in N = 1, D = 4 superspace. To the quadratic order in the goldstino field the obtained action coincides with earlier constructions of supergravities with nilpotent superfields, while matching the higher-order contributions will require a non-linear redefinition of fields. In the unitary gauge, in which the goldstino field is set to zero, the action coincides with that of Volkov and Soroka. We also show how a nilpotency constraint on a chiral curvature superfield emerges in this formulation.

Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. Results: Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed. Conclusions: Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.

Several technological solutions have ben recently proposed for fingers rehabilitation in patients who were affected by a stroke, in particular for those who cannot generate the finger force but with preserved sEMG signals. In fact, a very promising approach uses a robot rehabilitation system controlled through sEMG signals. However, this system has two main problems: 1) the placement of electrodes is made manually and this could bring to a non-optimal detection of signals; 2) the cost of treatments is very high, mainly due to the usage of single-use, dispodsable electrodes. Our proposal is to use a robot rehabilitation system with a low-cost armband instead of standard electrodes. The armband has 8 sEMG sensors and a 9-DoF inertial sensor, it has electrically safe setup with low voltage battery and Bluetooth protocol. Moreover it is a very low cost and reusable equipment. The validity of the proposal was confirmed through experiments.

In patients without a behavioral response, non-invasive techniques and new methods of data analysis can complement existing diagnostic tools by providing a method for detecting covert signs of residual cognitive function and awareness. The aim of this study was to investigate the brain oscillatory activities synchronized by single-pulse transcranial magnetic stimulation (TMS) delivered over the primary motor area in the time–frequency domain in patients with the unresponsive wakefulness syndrome or in a minimally conscious state as compared to healthy controls. A time–frequency analysis based on the wavelet transform was used to characterize rapid modifications of oscillatory EEG rhythms induced by TMS in patients as compared to healthy controls. The pattern of EEG changes in the patients differed from that of healthy controls. In the controls there was an early synchronization of slow waves immediately followed by a desynchronization of alpha and beta frequency bands over the frontal and centro-parietal electrodes, whereas an opposite early synchronization, particularly over motor areas for alpha and beta and over the frontal and parietal electrodes for beta power, was seen in the patients. In addition, no relevant modification in slow rhythms (delta and theta) after TMS was noted in patients. The clinical impact of these findings could be relevant in neurorehabilitation settings for increasing the awareness of these patients and defining new treatment procedures.

Comparison of the cough reflex test and water swallowing test in healthy participants and neurological patients.BACKGROUND: Silent aspiration is poorly identified by traditional clinical swallowing evaluations. Recently, sevral studies have proposed the use of a cough reflex test (CRT) for screening patients at risk of aspirations. The first aithis study is to investigate the CRT thresholds of citric acid concentration for identifying cough responses in healthy participants and neurological patients. The second aim is to compare the results of the CRT with the water swallowing test (WST), a standard screening test for identifying cough responses in neurological patients.METHODS: The CRT and then the WST were administered to 100 neurological patients and 100 healthy participants. For the CRT, we administered incremental solutions of citric acid interspersed with placebo doses. We used the results of the CRT in healthy participants to define a citric acid concentration cut-off, which could be used with neurological patients as a screening for aspirations.RESULTS: As all controls coughed at a concentration of 0.1 mol/L, this was used as a cut-off in patients to identify coughing as a screening for aspiration risk. Patients showed cough reflexes at concentrations significantly higher than controls (p=0 .001). The WST was not administered to 17 patients, due to cognitive deficits and severe clinical conditions. Thirty six patients had a cough response above the screening cut-off (> 0.1 mol/L), 25 of which (30.1%) also had a positive cough response during the WST.CONCLUSION: The CRT correlated significantly with the WST. Unlike the WST, the CRT could be easily administered to severely impaired patients. Our results indicate the use of the CRT as a screening test for silent aspirators.