Publications

5

Authors: repository Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years; 2012 Dept Neurosci; Dept Neurosci; Dept Neurol Sci; Reg Coordinat Ctr Rare Dis; Dept Neurol; Sect Neuromuscular Dis & Neuropathies; Neurol Unit; Inst Biomed & Mol Immunol; Dept Neurol Sci & Vis; Rare Metab Dis Unit; Immunol & Muscular Pathol Unit; Neuromuscular Unit; Dept Neurosci Psychiat & Anaesthesiol; Neurol Inst; Clin Pediat Neurol; Dept Med Endocrinol Metab & Geriatr

Journal: other-oa

Published: Angelini, C; Semplicini, C; Ravaglia, S; Bembi, B; Servidei, S; Pegoraro, E; Moggio, M; Filosto, M; Sette, E; Crescimanno, G; Tonin, P; Parini, R; Morandi, L; Marrosu, G; Greco, G; Musumeci, O; Di Iorio, G; Siciliano, G; Donati, MA; Carubbi, F; Ermani, M; Mongini, T; Toscano, A;

DOI: false

Abstract ▼

Volume: http://hdl.handle.net/11584/235692 Pages: 113777717||106171087||104623433||113267986||113699233||126351271||104075477||104638897||105514465||103893887||104639508||110467094||113142508||113142508||109503876||104458874||105861393||113953226||113699239||113699239||104623433||113267986||113267986||126351271||105514465||103893887||104639508||110151997||113142508||105861393||104458874||109503876||113953226-green

Keywords: 2012

An 80-year-old woman (PI) has been suffering of late onset progressive weakness and wasting of lower-limb muscles, accompanied by high creatine kinase levels in blood. A muscle biopsy, performed at 63years, showed myopathic features with partial deficiency of cytochrome c oxidase. A second biopsy taken 7years later confirmed the presence of a mitochondrial myopathy but also of vacuolar degeneration and other morphological features resembling inclusion body myopathy. Her 46-year-old daughter (PII) and 50-year-old son (PIII) are clinically normal, but the creatine kinase levels were moderately elevated and the EMG was consistently myopathic in both. Analysis of mitochondrial DNA sequence revealed in all three patients a novel, homoplasmic 15bp tandem duplication adjacent to the 5′ end of mitochondrial tRNA Phe gene, encompassing the first 11 nucleotides of this gene and the four terminal nucleotides of the adjacent D-loop region. Both mutant fibroblasts and cybrids showed low oxygen consumption rate, reduced mitochondrial protein synthesis, and decreased mitochondrial tRNA Phe amount. These findings are consistent with an unconventional pathogenic mechanism causing the tandem duplication to interfere with the maturation of the mitochondrial tRNA Phe transcript. © 2011 Elsevier B.V.

Authors: publisher Partial tandem duplication of mtDNA-tRNA Phe impairs mtDNA translation in late-onset mitochondrial myopathy; 2012 Unit Mol Neurogenet; Unit Mol Neurogenet; Inst Aragones Ciencias Salud; Dipartimento Sci Neurol Neuropsicol Morfol & Moto; Unit Neuromuscular & Neuroinflammatory Disorders

Journal: Partial tandem duplication of mtDNA-tRNAPhe impairs mtDNA translation in late-onset mitochondrial myopathy

Published: Arzuffi, P; Lamperti, C; Fernandez-Vizarra, E; Tonin, P; Morandi, L; Zeviani, M;

DOI: false

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Volume: http://www.nmd-journal.com/article/S0960896611013137/pdf Pages: 103893881||103893881||108945780||112476963||122023995||103893881-bronze

Keywords: 2012

Recently, several studies have started to explore covert visuospatial attention as a control signal for brain-computer interfaces (BCIs). Covert visuospatial attention represents the ability to change the focus of attention from one point in the space without overt eye movements. Nevertheless, the full potential and possible applications of this paradigm remain relatively unexplored. Voluntary covert visuospatial attention might allow a more natural and intuitive interaction with real environments as neither stimulation nor gazing is required. In order to identify brain correlates of covert visuospatial attention, classical approaches usually rely on the whole α-band over long time intervals. In this work, we propose a more detailed analysis in the frequency and time domains to enhance classification performance. In particular, we investigate the contribution of α sub-bands and the role of time intervals in carrying information about visual attention. Previous neurophysiological studies have already highlighted the role of temporal dynamics in attention mechanisms. However, these important aspects are not yet exploited in BCI. In this work, we studied different methods that explicitly cope with the natural brain dynamics during visuospatial attention tasks in order to enhance BCI robustness and classification performances. Results with ten healthy subjects demonstrate that our approach identifies spectro-temporal patterns that outperform the state-of-the-art classification method. On average, our time-dependent classification reaches 0.74 ± 0.03 of the area under the ROC (receiver operating characteristic) curve (AUC) value with an increase of 12.3% with respect to standard methods (0.65 ± 0.4). In addition, the proposed approach allows faster classification (<1 instead of 3 s), without compromising performances. Finally, our analysis highlights the fact that discriminant patterns are not stable for the whole trial period but are changing over short time intervals. These results support the hypothesis that visual attention information is actually indexed by subject-specific α sub-bands and is time dependent. © 2012 IOP Publishing Ltd.

Authors: publisher Time-dependent approach for single trial classification of covert visuospatial attention; 2012 Chair Noninvas Brain Machine Interface; Chair Noninvas Brain Machine Interface

Journal: Time-dependent approach for single trial classification of covert visuospatial attention

Published: Tonin, L; Leeb, R; Millán, JD;

DOI: false

Abstract ▼

Volume: https://iopscience.iop.org/article/10.1088/1741-2560/9/4/045011/pdf Pages: 109900823||109900823||109900823-bronze

Keywords: 2012

Background: The provision of sufficient basal insulin to normalize fasting plasma glucose levels may reduce cardiovascular events, but such a possibility has not been formally tested. Methods: We randomly assigned 12,537 people (mean age, 63.5 years) with cardiovascular risk factors plus impaired fasting glucose, impaired glucose tolerance, or type 2 diabetes to receive insulin glargine (with a target fasting blood glucose level of ≤95 mg per deciliter [5.3 mmol per liter]) or standard care and to receive n-3 fatty acids or placebo with the use of a 2-by-2 factorial design. The results of the comparison between insulin glargine and standard care are reported here. The coprimary outcomes were nonfatal myocardial infarction, nonfatal stroke, or death from cardiovascular causes and these events plus revascularization or hospitalization for heart failure. Microvascular outcomes, incident diabetes, hypoglycemia, weight, and cancers were also compared between groups. Results: The median follow-up was 6.2 years (interquartile range, 5.8 to 6.7). Rates of incident cardiovascular outcomes were similar in the insulin-glargine and standard-care groups: 2.94 and 2.85 per 100 person-years, respectively, for the first coprimary outcome (hazard ratio, 1.02; 95% confidence interval [CI], 0.94 to 1.11; P = 0.63) and 5.52 and 5.28 per 100 person-years, respectively, for the second coprimary outcome (hazard ratio, 1.04; 95% CI, 0.97 to 1.11; P = 0.27). New diabetes was diagnosed approximately 3 months after therapy was stopped among 30% versus 35% of 1456 participants without baseline diabetes (odds ratio, 0.80; 95% CI, 0.64 to 1.00; P = 0.05). Rates of severe hypoglycemia were 1.00 versus 0.31 per 100 person-years. Median weight increased by 1.6 kg in the insulin-glargine group and fell by 0.5 kg in the standard-care group. There was no significant difference in cancers (hazard ratio, 1.00; 95% CI, 0.88 to 1.13; P = 0.97). Conclusions: When used to target normal fasting plasma glucose levels for more than 6 years, insulin glargine had a neutral effect on cardiovascular outcomes and cancers. Although it reduced new-onset diabetes, insulin glargine also increased hypoglycemia and modestly increased weight.

Authors: publisher Basal insulin and cardiovascular and other outcomes in dysglycemia; 2012 Dept Med; Populat Hlth Res Inst; Dept Med

Journal: Basal Insulin and Cardiovascular and Other Outcomes in Dysglycemia

Published: Gerstein, HC; Bosch, J; Dagenais, GR; Díaz, R; Jung, HJ; Maggioni, AP; Pogue, J; Probstfield, J; Ramachandran, A; Riddle, MC; Rydén, LE; Yusuf, S;

DOI: false

Abstract ▼

Volume: https://www.nejm.org/doi/pdf/10.1056/NEJMoa1203858?articleTools=true

Keywords: 2012

Introduction: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT). Methods: We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients. Results: At baseline, the GSGC score correlated with both WGM (P < 0.001, n = 33) and 6MWT (P < 0.001, n = 26). After 1 year of ERT, we observed a significant change in gait, stairs and chair performance on the GSGC scale. The 6MWT significantly increased from 319 to 371 meters in 32 patients, and the WGM score was reduced. Conclusions: GSGC is a group of functional tests that requires only a few minutes to perform, therefore, this score might be a good indicator to be used in future studies. © 2012 Wiley Periodicals, Inc.

Authors: repository New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy; 2012 Dept Neurosci; Dept Neurosci; Dept Publ Hlth & Neurosci; Osped Maggiore Policlin; Dept Neurosci Psychiat & Anaesthesiol; Dept Neurol Sci & Vis; Univ Hosp; Dept Neuromuscular Dis; IBM CNR Pneumol 1; Neuromuscular Unit; Ctr Neuromuscular Dis

Journal: cc-by

Published: Angelini, C; Semplicini, C; Ravaglia, S; Moggio, M; Comi, GP; Musumeci, O; Pegoraro, E; Tonin, P; Filosto, M; Servidei, S; Morandi, L; Crescimanno, G; Marrosu, G; Siciliano, G; Mongini, T; Toscano, A;

DOI: false

Abstract ▼

Volume: Angelini||Semplicini||Ravaglia||Moggio||Comi||Musumeci||Pegoraro||Tonin||Filosto||Servidei||Morandi||Crescimanno||Marrosu||Siciliano||Mongini||Toscano||Sette||Tugnoli||Parini||Rigoldi||Donati||Gasperini||Vercelli||Barca||Di Giacopo||Pasanisi||Bembi||Lucchini||Piras||Ricci||Di Iorio||Diodato||Carubbi||Ariatti Pages: 109486218||104532509||104532509||103618674||109486218||104638537||109420305||112304867||103893880||104639508||109521754||107934033||103618674-green

Keywords: 2012

AREA MIN. 09 – Ingegneria industriale e dell’informazione – ITA||AUT||ESP||IND

Authors: AREA MIN. 09 - Ingegneria industriale e dell'informazione; ITA; AUT; ESP; IND; title_year; MATCH; 1775143536569; 1

Published: Proceedings of the TOBI Workshop III

AREA MIN. 09 – Ingegneria industriale e dell’informazione – ITA||AUT||CHE||DEU||ESP||GBR

Authors: AREA MIN. 09 - Ingegneria industriale e dell'informazione; ITA; AUT; CHE; DEU; ESP; GBR; title_year; MATCH; 1775143626825; 1

Published: Proceedings of the TOBI Workshop III

AREA MIN. 09 – Ingegneria industriale e dell’informazione – ITA||AUT||CHE||ESP||GBR||GRC

Authors: AREA MIN. 09 - Ingegneria industriale e dell'informazione; ITA; AUT; CHE; ESP; GBR; GRC; ERROR; 1775143580410; 1

Published: Proceedings of the TOBI Workshop III

5

Authors: publisher Virtual reality for the rehabilitation of the upper limb motor function after stroke: A prospective controlled trial; 2013 Dept Stat

Journal: Virtual reality for the rehabilitation of the upper limb motor function after stroke: a prospective controlled trial

Published: Turolla, A; Dam, M; Ventura, L; Tonin, P; Agostini, M; Zucconi, C; Kiper, P; Cagnin, A; Piron, L;

DOI: true

Abstract ▼

Volume: https://jneuroengrehab.biomedcentral.com/counter/pdf/10.1186/1743-0003-10-85 Pages: 112708805||113761682-gold

Keywords: 2013

Background Repetitive transcranial magnetic stimulation (rTMS) induces prolonged functional changes in the cerebral cortex in normal conditions and in altered states of consciousness. Its therapeutic effects have been variously documented. Objective The aim of this study was to investigate the reactivity of electroencephalography (EEG) and the clinical response in six severely brain-injured patients in an altered state of consciousness (minimally conscious state [MCS] or vegetative state [VS]). EEG rhythm and brain excitability were measured before and after a protocol of high-frequency rTMS. Methods All six patients underwent clinical and neurophysiological evaluation before rTMS and immediately thereafter. EEG data in resting state were acquired at the beginning of the exam (T0), after rTMS (T1), and 38 min after rTMS (T2). From these data the power values were computed using Fast Fourier Transform. Results rTMS over the motor cortex induced long-lasting behavioral and neurophysiological modifications in only one patient in MCS. No significant clinical or EEG modifications were detected in any of the other patients, except for changes in motor threshold and motor evoked potential amplitude over the stimulated motor areas. Conclusions The main finding of the study is the correlation between EEG reactivity and clinical response after rTMS. Reappearance of fast activity and an increase in slow activity were noted in the one patient with transitory arousal, whereas no significant reliable changes were observed in the other patients showing no clinical reactivity. © 2013 Elsevier Inc. All rights reserved.

Authors: publisher Effect of high-frequency repetitive transcranial magnetic stimulation on brain excitability in severely brain-injured patients in minimally conscious or vegetative state; 2013 Clin Neurophysiol & Funct Neuroimaging Unit; Dept Neurophysiol; Clin Neurophysiol & Funct Neuroimaging Unit

Journal: Effect of High-Frequency Repetitive Transcranial Magnetic Stimulation on Brain Excitability in Severely Brain-Injured Patients in Minimally Conscious or Vegetative State

Published: Manganotti, P; Formaggio, E; Storti, SF; Fiaschi, A; Battistin, L; Tonin, P; Piccione, F; Cavinato, M;

DOI: true

Abstract ▼

Volume: http://www.brainstimjrnl.com/article/S1935861X13002192/pdf Pages: 113008756||113008756||109941187||113008756||113008756||113008756||113008756||113008756-bronze

Keywords: 2013