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Reggio nell'Emilia, Italy

Sgandurra G.,IRCCS Fondazione Stella Maris | Ferrari A.,IRCCS S. Maria Nuova Hospital | Ferrari A.,University of Modena and Reggio Emilia | Cossu G.,Italian Institute of Technology | And 4 more authors.
Neurorehabilitation and Neural Repair | Year: 2013

Background. The properties of the mirror neuron system suggest a new type of upper limb (UL) rehabilitation in children with unilateral cerebral palsy (UCP), based on observation of action therapy followed by execution of a variety of observed movements (AOT). Objective. We tested the effects of AOT in the Upper Limb Children Action Observation Training (UP-CAT) trial. Methods. In a randomized, evaluator-blinded, block-designed trial, 24 UCP children with mild to moderate hand impairment were assigned to 2 groups. The experimental group observed, 1 hour per day for 3 consecutive weeks, video sequences of unimanual or bimanual goal-directed actions and subsequently executed observed actions with the hemiparetic UL or both ULs. The control group performed the same actions in the same order as the experimental sample, but had watched computer games. The Assisting Hand Assessment (AHA) scale was the primary outcome measure; the Melbourne assessment and ABILHAND-Kids were secondary ones. Outcomes were assessed at 1 week (T1), 8 weeks (T2), and 24 weeks (T3) after the end of the training. Results. The experimental group improved more (P =.008) in score changes for the AHA at the primary endpoints T1 (P =.008), T2 (P =.019), and T3 (P =.049). No between-group significant changes were found for ABILHAND-Kids or Melbourne assessment. Conclusions. UP-CAT improved daily UL activities in UCP children, suggesting a new rehabilitation approach based on a neurophysiological model of motor learning. © The Author(s) 2013.

Garavelli L.,Clinical Genetics Unit | Cordeddu V.,Oncology and Molecular Medicine | Errico S.,Clinical Genetics Unit | Bertolini P.,University of Parma | And 21 more authors.
American Journal of Medical Genetics, Part A | Year: 2015

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation. © 2015 Wiley Periodicals, Inc.

Grassi E.,IRCCS S. Maria Nuova Hospital | Fioroni F.,IRCCS S. Maria Nuova Hospital | Ferri V.,IRCCS S. Maria Nuova Hospital | Mezzenga E.,IRCCS S. Maria Nuova Hospital | And 6 more authors.
Physica Medica | Year: 2015

Background: Targeted radionuclide therapy is a rapidly growing modality. A few commercial treatment planning systems are entering the market. However, some in-house systems are currently developed for a more flexible and customized dosimetry calculation at voxel-level. For this purpose, we developed a novel software, VoxelMed, and performed a comparison with the software STRATOS. Methods: The validation of both of them was undertaken using radioactive phantoms with different volume inserts. A cohort of 10 patients was also studied after a therapeutic administration of 177Lu-labelled radiopeptides. The activity, number of disintegrations, absorbed dose and dose-volume histogram (DVH) were calculated for the phantoms and the kidneys in patients, which were the main critical organs at risk in this study. Results: In phantoms the absorbed doses computed with VoxelMed and STRATOS agree within 5%. In patients at the voxel-level the absorbed dose to kidneys (VoxelMed: mean 0.66Gy/GBq) showed a limited difference of 5%, but with a remarkable range (-40%,+60%) between the two software packages. Voxel-dosimetry allows to estimate the dose non-homogeneities in volumes, which may be evaluated through DVHs. Conclusion: This study demonstrates that a fully 3D voxel-dosimetry with multiple SPECT images is feasible by using home-made or commercial software package and absorbed dose results obtained are similar. The main difference between the studied tools was observed in the activity integration method (effective vs physical half-time to time activity curve tail). We believe that an effective half-time integration method produces a more accurate approximation of clinical uptake and resultant dosimetry. © 2014 Associazione Italiana di Fisica Medica.

Rizzo R.,University of Ferrara | Pietrobon S.,University of Ferrara | Mazzoni E.,University of Ferrara | Bortolotti D.,University of Ferrara | And 64 more authors.
Journal of Translational Medicine | Year: 2016

Background: Many investigators detected the simian polyomavirus SV40 footprints in human brain tumors and neurologic diseases and recently it has been indicated that SV40 seems to be associated with multiple sclerosis (MS) disease. Interestingly, SV40 interacts with human leukocyte antigen (HLA) class I molecules for cell entry. HLA class I antigens, in particular non-classical HLA-G molecules, characterized by an immune-regulatory function, are involved in MS disease, and the levels of these molecules are modified according with the disease status. Objective: We investigated in serum samples, from Italian patients affected by MS, other inflammatory diseases (OIND), non-inflammatory neurological diseases (NIND) and healthy subjects (HS), SV40-antibody and soluble sHLA-G and the association between SV40-prevalence and sHLA-G levels. Methods: ELISA tests were used for SV40-antibodies detection and sHLA-G quantitation in serum samples. Results: The presence of SV40 antibodies was observed in 6 % of patients affected by MS (N = 4/63), 10 % of OIND (N = 8/77) and 15 % of NIND (N = 9/59), which is suggestive of a lower prevalence in respect to HS (22 %, N = 18/83). MS patients are characterized by higher sHLA-G serum levels (13.9 ± 0.9 ng/ml; mean ± St. Error) in comparison with OIND (6.7 ± 0.8 ng/ml), NIND (2.9 ± 0.4 ng/ml) and HS (2.6 ± 0.7 ng/ml) subjects. Interestingly, we observed an inverse correlation between SV40 antibody prevalence and sHLA-G serum levels in MS patients. Conclusion: The data obtained showed a low prevalence of SV40 antibodies in MS patients. These results seems to be due to a generalized status of inability to counteract SV40 infection via antibody production. In particular, we hypothesize that SV40 immune-inhibitory direct effect and the presence of high levels of the immune-inhibitory HLA-G molecules could co-operate in impairing B lymphocyte activation towards SV40 specific peptides. © 2016 The Author(s).

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