Publications

Background: The efficacy and effectiveness of nintedanib as a first-line therapy in idiopathic pulmonary fibrosis (IPF) patients have been demonstrated by clinical trials and real-life studies. Our aim was to examine the safety profile and effectiveness of nintedanib when it is utilized as a second-line treatment in subjects who have discontinued pirfenidone. Methods: The medical charts of 12 patients who were switched from pirfenidone to nintedanib were examined retrospectively. The drug’s safety was defined by the number of adverse events (AEs) that were reported; disease progression was evaluated based on the patient’s vital status and changes in forced vital capacity (FVC) at 12-month follow-up. Results: The numbers of patients experiencing AEs and of the AEs per patient in our study group didn’t significantly differ with respect to a group of 56 individuals who were taking nintedanib as a first-line therapy during the study period (5/12 vs. 22/56; p = 0.9999, and 0.00 (0.00–1.00) vs. 0.00 (0.00–3.00); p = 0.517, respectively). Two out of the 3 patients who had been switched to nintedanib due to a rapid disease progression showed stabilized FVC values. Conclusions: Nintedanib was found to have an acceptable safety profile in the majority of the IPF patients switched from pirfenidone. Prospective studies are warranted to determine if the drug can effectively delay disease progression in these patients.

Approximating the stationary probability of a state in a Markov chain through Markov chain Monte Carlo techniques is, in general, inefficient. Standard random walk approaches require Õ(τ/ π(v)) operations to approximate the probability π(v) of a state v in a chain with mixing time τ, and even the best available techniques still have complexity Õ(τ1.5/ π(v) 0.5) ; and since these complexities depend inversely on π(v), they can grow beyond any bound in the size of the chain or in its mixing time. In this paper we show that, for time-reversible Markov chains, there exists a simple randomized approximation algorithm that breaks this “small-π(v) barrier”.

A survey of fresh great Mediterranean scallops (Pecten jacobaeus) and frozen queen scallops (Aequipecten opercularis) collected from the northern Adriatic Sea demonstrated the presence of nematode larvae that were morphologically and molecularly identified as Sulcascaris sulcata. The presence of this nematode in the northern Adriatic Sea has been described in the loggerhead sea turtle, which is the final host, but it was only recently described in the intermediate molluscan host. Affected scallops present rust-brown lesions in the adductor muscle. In this study, necroscopic and histopathological lesions are described in affected scallops. Furthermore, the detrimental effects of this parasite on the commercialization of scallops under the current European legislation concerning the hygiene of seafood products are evaluated.

Farming robots need a fast and robust image segmentation module to apply targeted treatments, which require the ability to distinguish, in real time, between crop and weeds. Existing solutions make use of visual classifiers that are trained on large annotated datasets. However, generating large datasets with pixel-wise annotations is an extremely time-consuming task. In this work, we tackle the crop/weed segmentation problem by using a synthetic image generation method to augment the training dataset without the need of manually labelling the images. The proposed approach consists in training a Generative Adversarial Network (GAN), which can automatically generate realistic agricultural scenes. As a difference with respect to common GAN approaches, where the network learns how to reproduce an entire scene, we generate only instances of the objects of interest in the scene, namely crops. This allows to build a generative model that is more compact and easier to train. The generated objects are then placed into real images of agricultural datasets, thus creating new images that can be used for training. To evaluate the performance of the proposed approach, quantitative experiments have been carried out using different segmentation network architectures, showing that our method well generalizes across multiple architectures.

Digital technology in museum practice provides new means of interaction with artifacts and collections. In particular, we need interactive installations in order to encourage and stimulate visitors to learn and understand archaeological musical instruments through engagement and active participation: these instruments (i.e., interactive artifacts per se) are de facto unplayable and inaccessible to visitors, as a consequence of their preservation issues. However, presenting artifacts to the general public is a complex task for their multifaceted nature, and digital technology must not sacrifice accuracy or depth of information for the sake of entertainment. Moreover, deploying digital technology is a multidisciplinary effort that requires an interplay among different fields, from history and archaeology to information engineering and craftsmanship. In this article, we present a methodology to relate such disciplines in order to design a digital multimedia installation that promotes archaeological musical instruments in a museum. In defining the problem, we identify four different aspects to consider: the museum collection, the museum environment, the manufacturing opportunities for the installation, and the user experience. Such aspects are integrated in a design approach that is centered on Design Thinking. The proposed methodology is exemplified in the designing and manufacturing of an installation for a Pan flute from Egypt dated back to 700 A.D., a case in which multisensory interaction is particularly important to convey the lost sound of the instrument. We describe in detail an installation (exhibited at the Museum of Archaeological Science and Art at the University of Padova), which virtually recreates the Pan flute and communicates information related to its history, iconography, acoustics, and musicology. Just after the deployment of the installation, we also carried out an assessment with a group of experts in the fields of information engineering, music, musicology, and archaeology. The good results obtained demonstrate that the installation is a convenient way of interaction, simple to use and aesthetically integrated in the museum context.

Archives often include documents that can hardly be considered publications or grey literature as such, yet they maintain their documentary value and play a role of primary sources for the specialists. These documents, indeed, can help archivists to reveal the sedimentation process of the archive itself and to preserve the authentic context of the documentary production. They also appear to be very useful for the community of researchers and scholars. This happens more frequently with oral archives which include ‘non-conventional sources’, thus bringing together audio documents, fieldworks notes, correspondence, slipcases, analogic compact cassettes or open reels. At the cross-road of two disciplines, Archival Science and Grey Literature, this paper aims to argue the applicability of the concept of grey literature to this wide range of documentary materials, by showing the experience of Archivio Vi.Vo, a regional project aiming at building a model for archiving, preserving, managing and disseminating audio documents.

Visual attention can be spatially oriented, even in the absence of saccadic eye-movements, to facilitate the processing of incoming visual information. One behavioral proxy for this so-called covert visuospatial attention (CVSA) is the validity effect (VE): the reduction in reaction time (RT) to visual stimuli at attended locations and the increase in RT to stimuli at unattended locations. At the electrophysiological level, one correlate of CVSA is the lateralization in the occipital α-band oscillations, resulting from α-power increases ipsilateral and decreases contralateral to the attended hemifield. While this α-band lateralization has been considerably studied using electroencephalography (EEG) or magnetoencephalography (MEG), little is known about whether it can be trained to improve CVSA behaviorally. In this cross-over sham-controlled study we used continuous real-time feedback of the occipital α-lateralization to modulate behavioral and electrophysiological markers of covert attention. Fourteen subjects performed a cued CVSA task, involving fast responses to covertly attended stimuli. During real-time feedback runs, trials extended in time if subjects reached states of high α-lateralization. Crucially, the ongoing α-lateralization was fed back to the subject by changing the color of the attended stimulus. We hypothesized that this ability to self-monitor lapses in CVSA and thus being able to refocus attention accordingly would lead to improved CVSA performance during subsequent testing. We probed the effect of the intervention by evaluating the pre-post changes in the VE and the α-lateralization. Behaviorally, results showed a significant interaction between feedback (experimental–sham) and time (pre-post) for the validity effect, with an increase in performance only for the experimental condition. We did not find corresponding pre-post changes in the α-lateralization. Our findings suggest that EEG-based real-time feedback is a promising tool to enhance the level of covert visuospatial attention, especially with respect to behavioral changes. This opens up the exploration of applications of the proposed training method for the cognitive rehabilitation of attentional disorders.

Introduction: Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified either clinically or by NBS,for clinical and genetic characterization and to evaluate a five years’ experience of NBS, in the attempt to figure out the complexity of genotype-phenotype correlation and to confirm the clinical impact of NBS in our centre experience. Materials and methods: We analysed FAODs patients diagnosed either by NBS or clinically, followed since February 2014 to April 2019 at the Regional Screening Centre and Inherited Metabolic Diseases Unit of Verona. Diagnosis was confirmed by plasma acylcarnitines, urinary organic acids, enzymatic and genetic testing. For not clear genotypes due to the presence of variants of uncertain significance, in silico predictive tools have been used as well as enzymatic activity assays. Patients underwent clinical, nutritional and biochemical follow up. Results: We diagnosed 30 patients with FAODs. 20 by NBS: 3 CUD, 6 SCADD, 5 MCADD, 4 VLCADD, 2 MADD. Overall incidence of FAODs diagnosed by NBS was 1:4316 newborns. No one reported complications during the follow up period. 10 patients were diagnosed clinically: 2 CUD, 2 CPT2D, 1 VLCADD, 5 MADD. Mean age at diagnosis was 29.3 years. Within this group, complications or symptoms were reported at diagnosis, but not during follow-up. 12 mutations not previously reported in literature were found, all predicted as pathogenic or likely pathogenic. Discussion and conclusions: Our study highlighted the great phenotypic variability and molecular heterogeneity of FAODs and confirmed the importance of a tailored follow up and treatment. Despite the short duration of follow up, early identification by NBS prevented diseases related complications and resulted in normal growth and psycho-motor development as well.

The original version of this Article contained an error in the spelling of the authors Francesco Piccione, Paolo Tonin, Antonio Cerasa and Stefano Masiero, which were incorrectly given as Piccione Francesco, Tonin Paolo, Cerasa Antonio, and Masiero Stefano, respectively. This has now been corrected in both the PDF and HTML versions of the Article.

Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic paralysis (HyperPP/NormoPP); in addition, rare phenotypes associated with mutations in SCN4A are congenital myasthenic syndrome and congenital myopathy. However, only scarce data have been reported in literature on large patient cohorts including phenotypes characterized by myotonia and episodes of paralysis. Methods: We retrospectively investigated clinical and molecular features of 80 patients fulfilling the following criteria: (1) clinical and neurophysiological diagnosis of myotonia, or clinical diagnosis of PP, and (2) presence of a pathogenic SCN4A gene variant. Patients presenting at birth with episodic laryngospasm or congenital myopathy-like phenotype with later onset of myotonia were considered as neonatal SCN4A. Results: PMC was observed in 36 (45%) patients, SCM in 30 (37.5%), Hyper/NormoPP in 7 (8.7%), HypoPP2 in 3 (3.7%), and neonatal SCN4A in 4 (5%). The median age at onset was significantly earlier in PMC than in SCM (p < 0.01) and in Hyper/NormoPP than in HypoPP2 (p = 0.02). Cold-induced myotonia was more frequently observed in PMC (n = 34) than in SCM (n = 23) (p = 0.04). No significant difference was found in age at onset of episodes of paralysis among PMC and PP or in frequency of permanent weakness between PP (n = 4), SCM (n = 5), and PMC (n = 10). PP was more frequently associated with mutations in the S4 region of the NaV1.4 channel protein compared to SCM and PMC (p < 0.01); mutations causing PMC were concentrated in the C-terminal region of the protein, while SCM-associated mutations were detected in all the protein domains. Conclusions: Our data suggest that skeletal muscle channelopathies associated with mutations in SCN4A represent a continuum in the clinical spectrum.