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Santoro M.,Fondazione Don Carlo Gnocchi | Masciullo M.,IRCCS San Raffaele Pisana | Bonvissuto D.,Catholic University of the Sacred Heart | Bianchi M.L.E.,Catholic University | And 3 more authors.
Molecular and Cellular Biochemistry

INSR, one of those genes aberrantly expressed in myotonic dystrophy type 1 (DM1) and type 2 (DM2) due to a toxic RNA effect, encodes for the insulin receptor (IR). Its expression is regulated by alternative splicing generating two isoforms: IR-A, which predominates in embryonic tissue, and IR-B, which is highly expressed in adult, insulin-responsive tissues (skeletal muscle, liver, and adipose tissue). The aberrant INSR expression detected in DM1 and DM2 muscles tissues, characterized by a relative increase of IR-A versus IR-B, was pathogenically related to the insulin resistance occurring in DM patients. To assess if differences in the aberrant splicing of INSR could underlie the distinct fiber type involvement observed in DM1 and DM2 muscle tissues, we have used laser capture microdissection (LCM) and RT-PCR, comparing the alternative splicing of INSR in type I and type II muscle fibers isolated from muscle biopsies of DM1, DM2 patients and controls. In the controls, the relative amounts of IR-A and IR-B showed no obvious differences between type I and type II fibers, as in the whole muscle tissue. In DM1 and DM2 patients, both fiber types showed a similar, relative increase of IR-A versus IR-B, as also evident in the whole muscle tissue. Our data suggest that the distinct fiber type involvement in DM1 and DM2 muscle tissues would not be related to qualitative differences in the expression of INSR. LCM can represent a powerful tool to give a better understanding of the pathogenesis of myotonic dystrophies, as well as other myopathies. © 2013 Springer Science+Business Media New York. Source

Gorsic M.,University of Ljubljana | Kamnik R.,University of Ljubljana | Ambrozic L.,University of Ljubljana | Vitiello N.,Piaggio | And 3 more authors.
Sensors (Switzerland)

This paper presents a gait phase detection algorithm for providing feedback in walking with a robotic prosthesis. The algorithm utilizes the output signals of a wearable wireless sensory system incorporating sensorized shoe insoles and inertial measurement units attached to body segments. The principle of detecting transitions between gait phases is based on heuristic threshold rules, dividing a steady-state walking stride into four phases. For the evaluation of the algorithm, experiments with three amputees, walking with the robotic prosthesis and wearable sensors, were performed. Results show a high rate of successful detection for all four phases (the average success rate across all subjects >90%). A comparison of the proposed method to an off-line trained algorithm using hidden Markov models reveals a similar performance achieved without the need for learning dataset acquisition and previous model training. © 2014 by the authors; licensee MDPI, Basel, Switzerland. Source

Di Rienzo M.,Fondazione Don Carlo Gnocchi
Conference proceedings : ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference

Seismocardiogram (SCG) is the recording of the minute body accelerations induced by the heart activity, and reflects mechanical aspects of heart contraction and blood ejection. So far, most of the available systems for the SCG assessment are designed to be used in a laboratory or in controlled behavioral and environmental conditions. In this paper we propose a modified version of a textile-based wearable device for the unobtrusive recording of ECG, respiration and accelerometric data (the MagIC system), to assess the 3d sternal SCG in daily life. SCG is characterized by an extremely low magnitude of the accelerations (in the order of g × 10(-3)), and is masked by major body accelerations induced by locomotion. Thus in daily life recordings, SCG can be measured whenever the subject is still. We observed that about 30 seconds of motionless behavior are sufficient for a stable estimate of the average SCG waveform, independently from the subject's posture. Since it is likely that during spontaneous behavior the subject may stay still for at least 30 seconds several times in a day, it is expected that the SCG could be repeatedly estimated and tracked over time through a prolonged data recording. These observations represent the first testing of the system in the assessment of SCG out of a laboratory environment, and open the possibility to perform SCG studies in a wide range of everyday conditions without interfering with the subject's activity tasks. Source

Santoro M.,Fondazione Don Carlo Gnocchi | Piacentini R.,University Cattolica | Masciullo M.,University Cattolica | Bianchi M.L.E.,University Cattolica | And 5 more authors.
Neuropathology and Applied Neurobiology

Aims: The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca2+-ATPase (SERCA) and α1S subunit of voltage-gated Ca2+ channels (Cav1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the regulation of intracellular Ca2+ homeostasis and signalling. Methods: We analysed the expression of RYR1, SERCA and Cav1.1 and the intracellular Ca2+ handling in cultured myotubes isolated from DM1, DM2 and control muscle biopsies by semiquantitative RT-PCR and confocal Ca2+ imaging respectively. Results: (i) The alternative splicing of RYR1, SERCA and Cav1.1 was more severely affected in DM1 than in DM2 myotubes; (ii) DM1 myotubes exhibited higher resting intracellular Ca2+ levels than DM2; (iii) the amplitude of intracellular Ca2+ transients induced by sustained membrane depolarization was higher in DM1 myotubes than in controls, whereas DM2 showed opposite behaviour; and (iv) in both DM myotubes, Ca2+ release from sarcoplasmic reticulum through RYR1 was lower than in controls. Conclusion: The aberrant splicing of RYR1, SERCA1 and Cav1.1 may alter intracellular Ca2+ signalling in DM1 and DM2 myotubes. The differing dysregulation of intracellular Ca2+ handling in DM1 and DM2 may explain their distinct sarcolemmal hyperexcitabilities. © 2013 British Neuropathological Society. Source

Di Rienzo M.,Fondazione Don Carlo Gnocchi
Conference proceedings : ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference

Sternal seismocardiogram (SCG) is the assessment of microvibrations produced by the beating heart as detected by an accelerometer positioned on the sternum. This signal reflects mechanical events of the heart contraction, including the opening and closure of mitral and aortic valves and maximal blood flow acceleration. Traditionally, SCG has been detected in a laboratory setting with the subject lying at rest in supine position. Aims of this study were 1) to investigate the feasibility of a SCG monitoring over the 24 hours in ambulant subjects, and 2) to calculate number and time distribution of the SCG estimates obtainable over the 24 hours. In 5 healthy subjects ECG, respiration, body accelerations and sternal SCG were recorded for 24 hours in a workday by a smart garment recently developed in our laboratory, the MagIC-SCG system. Each recording was split into a series of contiguous 5-s data segments and SCG was estimated in each segment where the magnitude of the acceleration vector was < 4 milli-g (this condition indicates that the subject was not moving).All the 24-h recordings were found of good quality and could be entirely analyzed. A large number of SCG estimates could be obtained over the 24 hours. In particular, more than 100 estimates per hour were available during the day; at night this rate was three times higher.Thus our study indicates that not only the 24h SCG monitoring in daily life is feasible but also that possible changes over time in SCG and its derived parameters may be tracked with an extreme temporal detail. Source

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