Publications

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.