Alloni A.,University of Pavia |
Tost D.,Polytechnic University of Catalonia |
Panzarasa S.,University of Pavia |
Zucchella C.,Mondino National Institute of Neurology Foundation |
Quaglini S.,University of Pavia
Communications in Computer and Information Science | Year: 2015
Cognitive rehabilitation is usually administered in form of paper-based exercises the patient is required to solve. With the availability of new and advanced technologies, computer science is gaining more and more importance in the treatment routine. In this paper a software system for the rehabilitation of cognitively impaired subjects will be presented. Its features guarantee many advantages, both for patients and therapists, but to prevent the risk of reduced compliance, which, considering the intended target of the system typically elderly people with low computer skills cannot be ignored, 3D technology has been introduced. The project choices made and implementation strategies applied to increase immersion and entertainment and prevent boredom and drops in compliance will be described. Open issues and future works will also be illustrated. © Springer-Verlag Berlin Heidelberg 2015.
Desbats M.A.,University of Padua |
Vetro A.,Biotechnology Research Laboratory |
Limongelli I.,University of Pavia |
Lunardi G.,University of Padua |
And 15 more authors.
European Journal of Human Genetics | Year: 2015
Coenzyme Q 10 deficiency is a clinically and genetically heterogeneous disorder, with manifestations that may range from fatal neonatal multisystem failure, to adult-onset encephalopathy. We report a patient who presented at birth with severe lactic acidosis, proteinuria, dicarboxylic aciduria, and hepatic insufficiency. She also had dilation of left ventricle on echocardiography. Her neurological condition rapidly worsened and despite aggressive care she died at 23 h of life. Muscle histology displayed lipid accumulation. Electron microscopy showed markedly swollen mitochondria with fragmented cristae. Respiratory-chain enzymatic assays showed a reduction of combined activities of complex I+III and II+III with normal activities of isolated complexes. The defect was confirmed in fibroblasts, where it could be rescued by supplementing the culture medium with 10 μM coenzyme Q 10. Coenzyme Q 10 levels were reduced (28% of controls) in these cells. We performed exome sequencing and focused the analysis on genes involved in coenzyme Q 10 biosynthesis. The patient harbored a homozygous c.545T>G, p.(Met182Arg) alteration in COQ2, which was validated by functional complementation in yeast. In this case the biochemical and morphological features were essential to direct the genetic diagnosis. The parents had another pregnancy after the biochemical diagnosis was established, but before the identification of the genetic defect. Because of the potentially high recurrence risk, and given the importance of early CoQ 10 supplementation, we decided to treat with CoQ 10 the newborn child pending the results of the biochemical assays. Clinicians should consider a similar management in siblings of patients with CoQ10 deficiency without a genetic diagnosis. © 2015 Macmillan Publishers Limited All rights reserved.
Corrochano S.,MRC Mammalian Genetics Unit |
Mannikko R.,University College London |
Joyce P.I.,MRC Mammalian Genetics Unit |
McGoldrick P.,University College London |
And 25 more authors.
Brain | Year: 2014
Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on channel function have been characterized both in vitro and in vivo. However, little is known about the consequences of SCN4A mutations downstream from their impact on the electrophysiology of the Nav1.4 channel. Here we report the discovery of a novel SCN4A mutation (c.1762A>G; p.I588V) in a patient with myotonia and periodic paralysis, located within the S1 segment of the second domain of the Nav1.4 channel. Using N-ethyl-N-nitrosourea mutagenesis, we generated and characterized a mouse model (named draggen), carrying the equivalent point mutation (c.1744A>G; p.I582V) to that found in the patient with periodic paralysis and myotonia. Draggen mice have myotonia and suffer from intermittent hind-limb immobility attacks. In-depth characterization of draggen mice uncovered novel systemic metabolic abnormalities in Scn4a mouse models and provided novel insights into disease mechanisms. We discovered metabolic alterations leading to lean mice, as well as abnormal AMP-activated protein kinase activation, which were associated with the immobility attacks and may provide a novel potential therapeutic target. © 2014 The Author.
Pavese C.,University of Pavia |
Cecini M.,University of Pavia |
Lozza A.,Mondino National Institute of Neurology Foundation |
Biglioli F.,University of Milan |
And 5 more authors.
European Journal of Physical and Rehabilitation Medicine | Year: 2016
BACKGROUND: After masseteric-facial nerve (V-VII) anastomosis, a new neurological circuit oversees the facial muscles and patients should learn to activate the facial movements using the masseteric function. AIM: To monitor the rehabilitative protocol of facial muscles activation through teeth clenching and to assess the clinical evolution after V-VII anastomosis in terms of facial symmetry and functional recovery. DESIGN: Case series. SETTING: Outpatients clinic. POPULATION: Eleven patients undergone V-VII anastomosis for complete unilateral facial palsy. METHODS: After surgery, patients underwent a needle electromyography (EMG) and a rehabilitative training with mirror feedback to learn how to reach the symmetry at rest and during facial movements through teeth clenching. The rehabilitative protocol at the first clinical evaluation has been monitored through the Italian version of Sunnybrook Facial Grading System (SFGS) and the Software Facial Assessment by Computer Evaluation (FACE). Functional limitations and quality of life have been evaluated using the Italian version of Facial Disability Index (FDI). The clinical evolution at 18 months was evaluated with EMG, SFGS, biting evaluation and FDI. RESULTS: At the first clinical evaluation after reinnervation, through teeth clenching patients displayed an improvement of symmetry at rest, symmetry of voluntary movement, symmetry of smile and composite score of SFGS. Objective measurement of facial structures with FACE system demonstrated an improvement of symmetry at rest and during smile through teeth clenching. At 18 months patients displayed a good reinnervation with a further improvement of SFGS scores and reduction of functional disability. No biting deficit has been observed. CONCLUSION: After V-VII anastomosis, at the first rehabilitative visit, patients learn to activate the reinnervated facial muscles through teeth clenching. Eighteen months after the anastomosis, patients display a further improvement of voluntary control on facial symmetry and smile and a reduction of disability. CLINICAL REHABILITATION IMPACT: Our study illustrates the rehabilitative protocol after V-VII anastomosis and analyzes the clinical evolution after this intervention in terms of recovery of facial symmetry and reduction of disability. This will be instrumental to standardize the rehabilitative protocol among different centers and to choose the best patient-tailored surgical approach for subjects affected by complete facial palsy. © 2016 EDIZIONI MINERVA MEDICA.