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Marin B.,French Institute of Health and Medical Research | Marin B.,University of Limoges | Marin B.,Limoges University Hospital Center | Marin B.,Mario Negri Institute for Pharmacological Research | And 10 more authors.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | Year: 2016

Our objective was to assess non-self-sufficiency (NSS) in ALS as an outcome measure in therapeutic trials. Using data from the control arm of two randomized trials and an observational study, associations between NSS (score ≤2 in the ALSFRS-R items for swallowing, cutting food and handling utensils, or walking) and the total ALSFRS-R score, forced vital capacity (FVC), and survival at selected time-points until death or 48 weeks, were assessed. These measures were used as surrogates of relevant functional impairment. Of 82 self-sufficient (SS) patients at baseline, 32 (39.0%) became NSS at four weeks and increased to 72 (87.8%) at the end of follow-up. A significant association was found between NSS, ALSFRS-R score and FVC at 24, 36 and 48 weeks. Thirty-four subjects died (41.5%). Compared to SS patients (median survival, 27.9 months), individuals becoming NSS at four weeks were at increased risk to die (median survival, 23.6 months, p = 0.02). NSS status at four weeks predicted survival even after adjustment for ALSFRS-R total score, age, gender, site of onset, disease duration, BMI, and FVC. Walking was the only predictor of survival when adjusting for all covariates. In conclusion, NSS status is a possible endpoint to investigate short-term efficacy of treatments of ALS. © 2015 Taylor & Francis.


Tarella C.,Molecular Biotechnology Center | Rutella S.,Catholic University of the Sacred Heart | Gualandi F.,University of Genoa | Melazzini M.,Science Oncoematologia | And 13 more authors.
Cytotherapy | Year: 2010

Background and aims. The aim of this study was to evaluate and characterize the feasibility and safety of bone marrow-derived cell (BMC) mobilization following repeated courses of granulocytecolony stimulating factor (G-CSF) in patients with amyotrophic lateral sclerosis (ALS). Methods. Between January 2006 and March 2007, 26 ALS patients entered a multicenter trial that included four courses of BMC mobilization at 3-month intervals. In each course, G-CSF (5 μg/kg b.i.d.) was administered for four consecutive days; 18% mannitol was also given. Mobilization was monitored by flow cytometry analysis of circulating CD34+ cells and by in vitro colony assay for clonogenic progenitors. Co-expression by CD34+ cells of CD133, CD90, CD184, CD117 and CD31 was also assessed. Results. Twenty patients completed the four-course schedule. One patient died and one refused to continue the program before starting the mobilization courses; four discontinued the study protocol because of disease progression. Overall, 89 G-CSF courses were delivered. There were two severe adverse events: one prolactinoma and one deep vein thrombosis. There were no discontinuations as a result of toxic complications. Circulating CD34 + cells were monitored during 85 G-CSF courses and were always markedly increased; the range of median peak values was 4157/μL, with no significant differences among the four G-CSF courses. Circulating clonogenic progenitor levels paralleled CD34+ cell levels. Most mobilized CD34+ cells co-expressed stem cell markers, with a significant increase in CD133 co-expression. Conclusions. It is feasible to deliver repeated courses of G-CSF to mobilize a substantial number of CD34+ cells in patients with ALS; mobilized BMC include immature cells with potential clinical usefulness. © 2010 Informa UK Ltd.


De Mattia E.,Centro Clinico NEMO
Monaldi Archives for Chest Disease - Pulmonary Series | Year: 2013

Aim. To evaluate the severity of airway obstruction in patients affected by chronic obstructive pulmonary disease (COPD) in the presence of concomitant restriction due to morbid obesity. Methods. Lung function test, six-minute walking distance (6MWD) test, body mass index measurement (BMI), and determination of dyspnoea using the Modified Medical Research Council Dyspnoea Scale (MMRC) were performed on each patient referred to our department according to their individual respiratory diagnosis or symptoms. Analysis was performed on smokers or ex-smokers patients, with both dyspnoea and chronic productive cough, showing non fully reversible airflow obstruction, with normal-weight (NW: BMI 22 to 24 kg/m2) or morbid-obesity (MO: BMI ≥ 40 kg/m 2). Results. In 33 COPD patients, spirometric data differ between NW and MO only in fixed FEV1/FVC ratio (50±9 and 62±7, respectively; p = 0.0001) and FEV1/SVC % of predicted (57±15 and 71±11, respectively; p = 0.005). Furthermore, SVC was found to exceed FVC only in NW (2.82±0.7 L and 2.08±0.9 L, respectively; p = 0.03). NW and MO differ significantly also in MMRC (3.4±0.9 vs 2.4±1, respectively; p = 0.004), 6MWD in metres (226±100 and 331±110, respectively, p = 0.007), 6MWD as % predicted (49±22 and 81±23, respectively; p = 0.0003), and BODE index (5.8±2 and 3.6±2, respectively; p = 0.003). Conclusions. There is a significant overgrading of obstruction in morbidly obese patients affected by COPD. Therefore, we suggest that an alternative grading system be used for patients with mixed ventilatory dysfunction.


Pupillo E.,Irccs Instituto Of Ricerche Farmacologiche Mario Negri | Bianchi E.,Irccs Instituto Of Ricerche Farmacologiche Mario Negri | Messina P.,Irccs Instituto Of Ricerche Farmacologiche Mario Negri | Chiveri L.,Ospedale Valduce | And 10 more authors.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | Year: 2015

Our objective was to assess the association between amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases such as Alzheimer's disease (AD), frontotemporal dementia (FTD) and Parkinson's disease (PD). From May 2007 through August 2012 we investigated 146 patients with newly diagnosed ALS and 146 age- and gender-matched controls. Each individual was screened for cardinal extrapyramidal signs (neurological examination) and cognitive dysfunction (Mini Mental State Examination, MMSE and Frontal Assessment Battery, FAB). Results demonstrated that rigidity was present in 8.2% of cases and 2.1% of controls (adjusted odds ratio, adjOR 5.7; 95% CI 1.5-22.0). The corresponding percentages for bradykinesia and postural instability were, respectively, 8.2 vs. 2.7% (adjOR 4.8; 95% CI 1.4-16.5) and 2.7 vs. 9.6% (adjOR 0.3; 95% CI 0.1-0.9). FAB ≤ 13.4 was recorded in 24.8 vs. 9.6%; adjOR 2.9; 95% CI 1.5-5.7). Tremor and abnormal FAB score were predicted by an older age at onset while an abnormal FAB score was associated with cramps and family history of neurodegenerative diseases. In conclusion, our data support the notion that newly diagnosed ALS carries a higher than expected risk of extrapyramidal signs and FTD. © 2015 Informa Healthcare.


Pane M.,Catholic University | Fanelli L.,Catholic University | Mazzone E.S.,Catholic University | Olivieri G.,Catholic University | And 34 more authors.
Neuromuscular Disorders | Year: 2015

The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years.All 91 were assessed using the Performance of Upper Limb test. Forty-eight were still on glucocorticoid after loss of ambulation, 25 stopped steroids at the time they lost ambulation and 18 were GC naïve or had steroids while ambulant for less than a year.At baseline the total scores ranged between 0 and 74 (mean 41.20). The mean total scores were 47.92 in the glucocorticoid group, 36 in those who stopped at loss of ambulation and 30.5 in the naïve group (p < 0.001).The 12-month changes ranged between -20 and 4 (mean -4.4). The mean changes were -3.79 in the glucocorticoid group, -5.52 in those who stopped at loss of ambulation and -4.44 in the naïve group. This was more obvious in the patients between 12 and 18 years and at shoulder and elbow levels.Our findings suggest that continuing glucocorticoids throughout teenage years and adulthood after loss of ambulation appears to have a beneficial effect on upper limb function. © 2015 The Authors.


PubMed | University of Padua, University of Genoa, IRCCS Eugenio Medea, Neurological Institute Carlo Besta and 10 more.
Type: Journal Article | Journal: Neuromuscular disorders : NMD | Year: 2015

The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years. All 91 were assessed using the Performance of Upper Limb test. Forty-eight were still on glucocorticoid after loss of ambulation, 25 stopped steroids at the time they lost ambulation and 18 were GC nave or had steroids while ambulant for less than a year. At baseline the total scores ranged between 0 and 74 (mean 41.20). The mean total scores were 47.92 in the glucocorticoid group, 36 in those who stopped at loss of ambulation and 30.5 in the nave group (p<0.001). The 12-month changes ranged between -20 and 4 (mean -4.4). The mean changes were -3.79 in the glucocorticoid group, -5.52 in those who stopped at loss of ambulation and -4.44 in the nave group. This was more obvious in the patients between 12 and 18 years and at shoulder and elbow levels. Our findings suggest that continuing glucocorticoids throughout teenage years and adulthood after loss of ambulation appears to have a beneficial effect on upper limb function.


Pane M.,Child Neurology and Psychiatry Unit | Mazzone E.S.,Child Neurology and Psychiatry Unit | Fanelli L.,Child Neurology and Psychiatry Unit | De Sanctis R.,Child Neurology and Psychiatry Unit | And 38 more authors.
Neuromuscular Disorders | Year: 2014

The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy. The aim of this study was to assess (1) a cohort of typically developing children from the age of 3. years onwards in order to identify the age when the activities assessed in the individual items are consistently achieved, and (2) a cohort of 322 Duchenne children and young adults to establish the range of findings at different ages. We collected normative data for the scale validation on 277 typically developing subjects from 3 to 25. years old. A full score was consistently achieved by the age of 5. years. In the Duchenne cohort there was early involvement of the proximal muscles and a proximal to distal progressive involvement. The scale was capable of measuring small distal movements, related to activities of daily living, even in the oldest and weakest patients. Our data suggest that the assessment can be reliably used in both ambulant and non ambulant Duchenne patients in a multicentric setting and could therefore be considered as an outcome measure for future trials. © 2013 The Authors.


PubMed | University of Padua, Child Neurology and Psychiatry Unit, IRCCS Eugenio Medea, Catholic University and 10 more.
Type: | Journal: PLoS currents | Year: 2015

The Performance of Upper Limb (PUL) test was specifically developed for the assessment of upper limbs in Duchenne muscular dystrophy (DMD). The first published data have shown that early signs of involvement can also be found in ambulant DMD boys. The aim of this longitudinal Italian multicentric study was to evaluate the correlation between the 6 Minute Walk Test (6MWT) and the PUL in ambulant DMD boys. Both 6MWT and PUL were administered to 164 ambulant DMD boys of age between 5.0 and 16.17 years (mean 8.82). The 6 minute walk distance (6MWD) ranged between 118 and 557 (mean: 376.38, SD: 90.59). The PUL total scores ranged between 52 and 74 (mean: 70.74, SD: 4.66). The correlation between the two measures was 0.499. The scores on the PUL largely reflect the overall impairment observed on the 6MWT but the correlation was not linear. The use of the PUL appeared to be less relevant in the very strong patients with 6MWD above 400 meters, who, with few exceptions had near full scores. In patients with lower 6MWD the severity of upper limb involvement was more variable and could not always be predicted by the 6MWD value or by the use of steroids. Our results confirm that upper limb involvement can already be found in DMD boys even in the ambulant phase.


Luigetti M.,Catholic University of the Sacred Heart | Fabrizi G.M.,University of Verona | Bisogni G.,Catholic University of the Sacred Heart | Romano A.,Catholic University of the Sacred Heart | And 6 more authors.
Clinical Neurology and Neurosurgery | Year: 2016

Objectives CMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2). Distal Hereditary Motor Neuropathy (dHMN) is a motor neuropathy/neuronopathy which resembles CMT. Final genetic diagnosis is poor in CMT2 and in dHMN when compared with CMT1. Our aim is to report clinical, neurophysiological and genetic findings in a cohort of patients with axonal inherited neuropathies. Patients and methods We report clinical, neurophysiological and genetic findings from 45 patients with CMT2 or dHMN, coming from 39 unrelated families, observed in our Institute of Neurology over a 20-year period. Results Clinical and electrophysiological examinations showed that 38 patients had CMT2 and 7 patients presented dHMN. Extensive genetic evaluation showed 6 mutations in MFN2, 4 mutations in HSPB1, 2 mutations in BSCL2, 3 mutations in GJB1, 1 mutation in MPZ. Conclusion Since next-generation sequencing will not be easily accessible, epidemiological data and clinical "phenotyping" remain the best strategy for clinicians to reach a correct genetic diagnosis in CMT2 and dHMN patients. © 2016 Elsevier B.V. All rights reserved.

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