Arousal effects on Fitness-to-Drive assessment: algorithms and experiments

Several elements can affect the drivers' behaviour while they are performing driving activities. Ranging from visual to cognitive distractions, emotions and other drivers' conditions (that could emerge from biometric data, such as temperature, heartbeat, pressure, etc.) can play a significant role, performing as a factor that can increase drivers' response time. This could be crucial in avoiding dangerous situations and in deciding and performing actions that could influence the happening of car accidents. This paper introduces the concept of the "Fitness-to-Drive" index and aims to evaluate how the arousal effects can influence the drivers' status. The paper presents some experimental evaluations we have conducted on a driver simulator, discussing the obtained results

Genetic transformation of apple with BIBAC vectors to increase scab resistance in transgenic lines

The apple transformation with BIBAC vectors was not completely successfull because of partial deletions of the construct during or after its integration in the apple genom

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.

Abstract OBJECTIVE: The objective of this study was to replicate an association study on a newly collected Italian autism spectrum disorder (ASD) cohort by studying the genetic markers associated with ASDs from recent genome-wide and candidate gene association studies. METHODS: We have genotyped 746 individuals from 227 families of the Italian Autism Network using allelic discrimination TaqMan assays for seven common single-nucleotide polymorphisms: rs2292813 (SLC25A12 gene), rs35678 (ATP2B2 gene), rs4307059 (between CDH9 and CDH10 genes), rs10513025 (between SEMA5A and TAS2R1 genes), rs6872664 (PITX1 gene), rs1861972 (EN2 gene), and rs4141463 (MACROD2 gene). A family-based association study was conducted. RESULTS: A significant association was found for two of seven markers: rs4307059 T allele (odds ratio: 1.758, SE=0.236; P-value=0.017) and rs35678 TC genotype (odds ratio: 0.528, SE=0.199; P-value=0.0013). CONCLUSION: A preferential allele transmission of two markers located at loci previously associated with social and verbal communication skill has been confirmed in patients of a new ASD family sample

Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder

Notwithstanding several research efforts in the past years, robust and replicable molecular signatures for autism spectrum disorders from peripheral blood remain elusive. The available literature on blood transcriptome in ASD suggests that through accurate experimental design it is possible to extract important information on the disease pathophysiology at the peripheral level. Here we exploit the availability of a resource for molecular biomarkers in ASD, the Italian Autism Network (ITAN) collection, for the investigation of transcriptomic signatures in ASD based on a discordant sibling pair design. Whole blood samples from 75 discordant sibling pairs selected from the ITAN network where submitted to RNASeq analysis and data analyzed by complementary approaches. Overall, differences in gene expression between affected and unaffected siblings were small. In order to assess the contribution of differences in the relative proportion of blood cells between discordant siblings, we have applied two different cell deconvolution algorithms, showing that the observed molecular signatures mainly reflect changes in peripheral blood immune cell composition, in particular NK cells. The results obtained by the cell deconvolution approach are supported by the analysis performed by WGCNA. Our report describes the largest differential gene expression profiling in peripheral blood of ASD subjects and controls conducted by RNASeq. The observed signatures are consistent with the hypothesis of immune alterations in autism and an increased risk of developing autism in subjects exposed to prenatal infections or stress. Our study also points to a potential role of NMUR1, HMGB3, and PTPRN2 in ASD

A further Rasch study confirms that ALSFRS-R does not conform to fundamental measurement requirements

View at Publisher| Export | Download | Add to List | More... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 16, Issue 5-6, 27 August 2015, Pages 331-337 A further Rasch study confirms that ALSFRS-R does not conform to fundamental measurement requirements (Article) Franchignoni, F.aefghijklmnopqrstuvwx, Mandrioli, J.b , Giordano, A.c, Ferro, S.d, Mandrioli, J.e, Fini, N.e, Georgoulopoulou, E.e, Nichelli, P.e, Biguzzi, S.f, Venturini, E.f, Passarin, M.G.f, Guidi, C.g, Neri, W.g, Sette, E.h, Tugnoli, V.h, Tola, M.R.h, Terlizzi, E.i, Guidetti, D.i, Curro Dossi, M.j, Pasquinelli, M.j, Andruccioli, J.j, Ravasio, A.j, Casmiro, M.k, Rasi, F.k, Salvi, F.l, Bartolomei, I.l, Michelucci, R.l, \ud Avoni, P.m, De Pasqua, S.m, Liguori, R.m, Rizzi, R.n, Canali, E.n, Marcello, N.n, Grassi, A.o, Delay, L.o, Pietrini, V.o, Aiello, M.p, Chierici, E.q, Montanari, E.q, Santangelo, M.r, Amidei, S.r, Greco, G.r, Casetta, I.s, Groppo, E.s, Granieri, E.s, De Massis, P.t, Mussuto, V.t, Borghi, A.u, Gabellini, A.u, Sacquegna, T.u, Rinaldi, R.v, Cirignotta, F.v, Ferro, S.d, D'Alessandro, R.w Hide additional authors a Unit of Occupational Rehabilitation and Ergonomics, Salvatore Maugeri Foundation, Scientific Institute of Veruno (NO), Italy b Department of Neuroscience, University of Modena and Reggio Emilia and Nuovo Ospedale Civile, S. Agostino-Estense di Modena, Via Pietro Giardini n. 1355, Modena, Italy c Unit of Bioengineering, Salvatore Maugeri Foundation, Scientific Institute of Veruno (NO), Italy View additional affiliations View references (25) Abstract Our objective was to verify and expand previous evidence of psychometric inadequacies in the ALSFRS-R, in a different sample of subjects suffering from ALS. Since 2009, a prospective registry records all incident cases of ALS in Emilia Romagna Region, Italy (4.4 million inhabitants) referred to its 17 neurological departments. For each patient, demographic and clinical information is collected by the physician in charge, including compilation of the ALSFRS-R at each clinical follow-up. Results showed that a confirmatory factor analysis on the three-factor model previously found (bulbar, motor, respiratory function) showed a good fit. Rasch analysis on the whole scale showed the need to collapse some rating categories, confirmed the multidimensionality of the ALSFRS-R, and demonstrated the presence of differential item functioning between patients with spinal versus bulbar onset. Moreover, some items included in the three ALSFRS-R subscales showed a problematic fit to the respective construct they were intended to measure. In conclusion, the interpretation of a total raw score of ALSFRS-R is hampered by ambiguities due to the different metric properties of the three domains the scale aggregates, and their content and structure. This study confirms that a refinement of ALSFRS-R is warranted, pointing to the need to revise its whole structure, and providing detailed guidelines for its revision.Our objective was to verify and expand previous evidence of psychometric inadequacies in the ALSFRS-R, in a different sample of subjects suffering from ALS. Since 2009, a prospective registry records all incident cases of ALS in Emilia Romagna Region, Italy (4.4 million inhabitants) referred to its 17 neurological departments. For each patient, demographic and clinical information is collected by the physician in charge, including compilation of the ALSFRS-R at each clinical follow-up. Results showed that a confirmatory factor analysis on the three-factor model previously found (bulbar, motor, respiratory function) showed a good fit. Rasch analysis on the whole scale showed the need to collapse some rating categories, confirmed the multidimensionality of the ALSFRS-R, and demonstrated the presence of differential item functioning between patients with spinal versus bulbar onset. Moreover, some items included in the three ALSFRS-R subscales showed a problematic fit to the respective construct they were intended to measure. In conclusion, the interpretation of a total raw score of ALSFRS-R is hampered by ambiguities due to the different metric properties of the three domains the scale aggregates, and their content and structure. This study confirms that a refinement of ALSFRS-R is warranted, pointing to the need to revise its whole structure, and providing detailed guidelines for its revision

Percutaneous endoscopic gastrostomy, body weight loss and survival in amyotrophic lateral sclerosis: a population-based registry study

Objective: To assess the role of percutaneous endoscopic gastrostomy (PEG) insertion, and its timing, on ALS survival, and to study prognostic factors of survival before and after PEG placement in a population-based setting. Methods: In this observational population-based, registry study, we enrolled patients with newly- diagnosed ALS, according to the El Escorial revised criteria, who were resident in the Emilia Romagna Region, and who developed severe dysphagia needing enteral nutritional support. The primary outcome measure was tracheostomy-free survival after PEG recommendation. Results: There were 210 patients needing PEG, out of an incident cohort of 545 patients from the Emilia Romagna Registry for ALS, who were diagnosed between 2009 and 2013. One hundred and ninety-three patients were included in the study, and 17 were excluded because they were already tracheostomized at the time of PEG placement. Of the 193 patients included in the study, 152 underwent PEG, whereas 41 did not undergo the procedure. Patients who did not undergo PEG, among the eligible ones, had the same tracheostomy-free survival from onset as patients who did (25 vs. 32 months, p = 0.21). Tracheostomy-free survival from PEG recommendation was greater in patients who underwent PEG placement than in patients who did not (6 vs. 2 months, p = 0.008). Median tracheostomy-free survival from PEG insertion was eight months (95% CI5–12); 30 days after PEG placement, survival was 89.60%. At Cox multivariable analysis, the hazard of death or tracheostomy after PEG insertion was significantly influenced by the difference between BMI at the time of the PEG procedure and BMI at diagnosis (HR 1.05, 95% CI 1.02–1.08; p = 0.002). The hazard of death or tracheostomy was not affected by the timing of PEG insertion. Conclusions: The present study, although it has some limitations, suggests a gain of tracheostomy-free survival from the time of PEG recommendation for patients who undergo PEG placement, and, among patients who undergo PEG, a greater survival if PEG is inserted before a significant weight loss occurs, and if nutritional support avoids further weight loss. Should this association between prevention of weight loss and better clinical outcome be confirmed by further studies, it would have important implications for disease management

Amyotrophic lateral sclerosis: a comparison of two staging systems in a population-based study

Background and purpose: To compare two recently developed staging systems for amyotrophic lateral sclerosis (ALS) [King's College and Milano-Torino staging (MITOS) systems] in an incident, population-based cohort of patients with ALS. Methods: Since 2009, a prospective registry has been recording all incident cases of ALS in the Emilia Romagna region in Italy. For each patient, detailed clinical information, including the ALS functional rating scale score, is collected at each follow-up. Results: Our study on 545 incident cases confirmed that King's College stages occurred at predictable times and were quite evenly spaced out throughout the disease course (occurring at approximately 40%, 60% and 80% of the disease course), whereas MITOS stages were mostly skewed towards later phases of the disease. In the King's College system there was a decrease in survival and an increase in deaths with escalating stages, whereas in the MITOS system survival curves pertaining to intermediate stages overlapped and the number of deaths was fairly homogenous throughout most stages. Conclusions: The King's College staging system had a higher homogeneity (i.e. smaller differences in survival among patients in the same stage) and a higher discriminatory ability (i.e. greater differences in survival among patients in different stages), being more suitable for individualized prognosis and for measuring efficacy of therapeutic interventions