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Mina E.D.,University of Pavia | Ciccone R.,University of Pavia | Brustia F.,National Neurological Institute C Mondino | Bayindir B.,University of Pavia | And 16 more authors.
European Journal of Human Genetics | Year: 2015

We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and in 15 controls to investigate whether a quick and cheap molecular diagnosis could be provided. The average number of nonsynonymous and splice site mutations per subject was similar in the two cohorts indicating that, even with relatively small targeted platforms, finding the disease gene is not an univocal process. Our diagnostic yield was 47% with nine cases in which we identified a very likely causative mutation. In most of them no interpretation would have been possible in absence of detailed phenotype and familial information. Seven out of 19 patients had a phenotype suggesting the involvement of a specific gene. Disease-causing mutations were found in six of these cases. Among the remaining patients, we could find a probably causative mutation only in three. None of the genes affected in the latter cases had been suspected a priori. Our protocol requires 8-10 weeks including the investigation of the parents with a cost per patient comparable to sequencing of 1-2 medium-to-large-sized genes by conventional techniques. The platform we used, although providing much less information than whole-exome or whole-genome sequencing, has the advantage that can also be run on 'benchtop' sequencers combining rapid turnaround times with higher manageability. © 2015 Macmillan Publishers Limited All rights reserved.


Fassina L.,University of Pavia | Saino E.,University of Pavia | Visai L.,University of Pavia | Visai L.,IRCCS Foundation Salvatore Maugeri | And 8 more authors.
International Journal of Immunopathology and Pharmacology | Year: 2012

One of the key challenges in reconstructive bone surgery is to provide living constructs that possess the ability to integrate in the surrounding host tissue. Bone graft substitutes and biomaterials have already been widely used to heal critical-size bone defects due to trauma, tumor resection and tissue degeneration. In the present study, gelatin-based cryogels have been seeded with human SAOS-2 osteoblasts followed by the in vitro culture of the cells. In order to overcome the drawbacks associated with static culture systems, including limited diffusion and inhomogeneous cell-matrix distribution, the present work describes the application of a bioreactor to physically enhance the cell culture in vitro using an electromagnetic stimulus. The results indicate that the physical stimulation of cell-seeded gelatin-based cryogels upregulates the bone matrix production. We anticipate that the scaffolds developed consisting of human bone proteins and cells could be applied for clinical purposes related to bone repair. Copyright © by BIOLIFE, s.a.s.


Sacchi L.,University of Pavia | Fux A.,Haifa University | Napolitano C.,IRCCS Foundation Salvatore Maugeri | Panzarasa S.,University of Pavia | And 5 more authors.
Studies in Health Technology and Informatics | Year: 2013

MobiGuide is a project devoted to the development of a patient-centric decision support system based on computerized clinical guidelines for chronic illnesses including Atrial Fibrillation (AF). In this paper we describe the process of (1) identifying guideline recommendations that will require patients to take actions (e.g., take measurement, take drug), thus impacting patients' daily-life behavior, (2) eliciting from the medical experts the corresponding set of personalized operationalized advices that are not explicitly written in the guideline (patient-tailored workflow patterns) and (3) delivering this advice to patients. The analysis of the AF guideline has resulted in four types of patient-tailored workflow patterns: therapy-related advisors, measurements advisors, suggestions for dealing with interventions that may require modulating patient therapy, and personalized packages for close monitoring of patients. We will show how these patterns can be generated using information stored in a patient health record that embeds clinical data and data about the patient's personal context and preferences. © 2013 IMIA and IOS Press.

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