InfoFaunaFVG: a novel progressive web application for wildlife surveillance

The Department of Agricultural, Food, Environmental and Animal Sciences (DI4A) at the University of Udine, in collaboration with Friuli Venezia Giulia regional authorities, within northeastern Italy, set up a wildlife monitoring and surveillance regional network, named InfoFaunaFVG. Here we describe the development and application of this data repository system based on a novel progressive web application, and report the data gathered in the first two and a half years of its use. InfoFaunaFVG is made of a Web Database and an integrated WebGIS system. In particular, the following open source softwares are used: Apache HTTP Server, Oracle MySQL, Symfony, Apache Tomcat, GeoServer, OpenLayers. The web app can be accessed from any web browser or by installing the progressive web application in the desktop or mobile devices. In short, operating from November 2019, InfoFaunaFVG currently (April 2022) contains a total of 40,175 records, from 300 different users, from 16 institutions. Among all species recorded, mammals were 40% (16,018) of the total, whereas avian species represented 59% (23,741), and others (reptiles and amphibians) 1% (416), respectively. Two hundred twenty-six different species (175 avian and 51 mammals) were recorded. Details about causes of death and live animal rescue were reported. To date, InfoFaunaFVG has proven to be a successful wildlife data repository system providing high quality consistent, accurate and traceable data. These had a considerable impact on regional wildlife governance. In the authors’ knowledge, InfoFaunaFVG is the first example described in literature of such a progressive web application, coordinated on an institutional level, and not based on voluntary-citizen observations. InfoFaunaFVG has the potential to become the largest wildlife monitoring and surveillance data repository system on a national level

A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists

In this study, we have compared the functional consequences of three mutations (R218Q, V260M, and Q266H) in the 1 subunit of the glycine receptor (GlyRA1) causing hyperekplexia, an inherited neurological channelopathy. In HEK-293 cells, the agonist EC50s for glycine- activated Cl currents were increased from 26 M in wtGlyRA1, to 5747, 135, and 129 M in R218Q, V260M, and Q266H GlyRA1 channels, respectively. Cl currents elicited by -alanine and taurine, which behave as agonists at wtGlyRA1, were decreased in V260M and Q266H mutant receptors and virtually abolished in GlyRA1 R218Q receptors. Gly-gated Cl currents were similarly antagonized by low concentrations of strychnine in both wild-type (wt) and R218Q GlyRA1 channels, suggesting that the Arg-218 residue plays a crucial role in GlyRA1 channel gating, with only minor effects on the agonist/ antagonist binding site, a hypothesis supported by our molecular model of the GlyRA1 subunit. The R218Q mutation, but not the V260M or the Q266H mutation, caused a marked decrease of receptor subunit expression both in total cell lysates and in isolated plasma membrane proteins. This decreased expression does not seem to explain the reduced agonist sensitivity of GlyRA1 R218Q channels since no difference in the apparent sensitivity to glycine or taurine was observed when wtGlyRA1 receptors were expressed at levels comparable with those of R218Q mutant receptors. In conclusion, multiple mechanisms may explain the dramatic decrease in GlyR function caused by the R218Q mutation, possibly providing the molecular basis for its association with a more severe clinical phenotype

Rufinamide in refractory childhood epileptic encephalopathies other than Lennox-Gastaut syndrome.

Background: To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhoodonset epileptic encephalopathies other than Lennox–Gastaut syndrome. Methods: Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types of childhood-onset refractory epileptic encephalopathies other than Lennox–Gastaut syndrome, were treated with rufinamide as adjunctive drug for a mean period of 11.4 months (range 3–26 months). Results: Fifteen of 38 patients (39.5%) had a ‡50% seizure reduction in countable seizures. Complete seizure freedom was achieved in one of these patients (2.6%). Three patients (7.9%) had a 25–49% seizure reduction, whilst seizure frequency remained unchanged in 15 (39.5%) and increased in five patients (13.1%). Eleven patients (28.9%) reported adverse side effects. Vomiting was reported in five patients (13.1%); drowsiness, decreased appetite and irritability with migraine manifested in other four patients. They were transient and mild in all cases. Conclusion: Rufinamide may be an effective and well-tolerated adjunctive drug for the treatment of refractory childhood-onset epileptic encephalopathies other than Lennox–Gastaut syndrome. Rufinamide was most effective in patients with dropattacks and (bi)frontal spike–wave discharges. Introduction Rufinamide is a structurally triazole-derivative (1-[2,6- difluorophenyl)methyl]-1hydro-1,2,3-triazole-carboxamide) novel antiepileptic drug, structurally unrelated to the existing antiepileptic drugs, and approved by the Food and Drug Administration for the treatment of Lennox–Gastaut syndrome in patients aged 4 and over, and for the treatment of partial seizures in adults and adolescents. The proposed mechanism of action is the limitation of excessiv

Morphological and Chemical Investigation of Ovarian Structures in a Bovine Model by Contrast-Enhanced X-ray Imaging and Microscopy

An improved understanding of an ovary’s structures is highly desirable to support advances in folliculogenesis knowledge and reproductive medicine, with particular attention to fertility preservation options for prepubertal girls with malignant tumors. Although currently the golden standard for structural analysis is provided by combining histological sections, staining, and visible 2D microscopic inspection, synchrotron radiation phase-contrast microtomography is becoming a new challenge for three-dimensional studies at micrometric resolution. To this aim, the proper use of contrast agents can improve the visualization of internal structures in ovary tissues, which normally present a low radiopacity. In this study, we report a comparison of four staining protocols, based on iodine or tungsten containing agents, applied to bovine ovarian tissues fixed in Bouin’s solution. The microtomography (microCT) analyses at two synchrotron facilities under different set-ups were performed at different energies in order to maximize the image contrast. While tungsten-based agents allow large structures to be well identified, Iodine ones better highlight smaller features, especially when acquired above the K-edge energy of the specific metal. Further scans performed at lower energy where the setup was optimized for overall quality and sensitivity from phase-contrast still provided highly resolved visualization of follicular and intrafollicular structures at different maturation stages, independent of the staining protocol. The analyses were complemented by X-ray Fluorescence mapping on 2D sections, showing that the tungsten-based agent has a higher penetration in this type of tissues

Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs

While the genetics of autism spectrum disorders (ASD) has been intensively studied, resulting in the identification of over 100 putative risk genes, the epigenetics of ASD has received less attention, and results have been inconsistent across studies. We aimed to investigate the contribution of DNA methylation (DNAm) to the risk of ASD and identify candidate biomarkers arising from the interaction of epigenetic mechanisms with genotype, gene expression, and cellular proportions. We performed DNAm differential analysis using whole blood samples from 75 discordant sibling pairs of the Italian Autism Network collection and estimated their cellular composition. We studied the correlation between DNAm and gene expression accounting for the potential effects of different genotypes on DNAm. We showed that the proportion of NK cells was significantly reduced in ASD siblings suggesting an imbalance in their immune system. We identified differentially methylated regions (DMRs) involved in neurogenesis and synaptic organization. Among candidate loci for ASD, we detected a DMR mapping to CLEC11A (neighboring SHANK1) where DNAm and gene expression were significantly and negatively correlated, independently from genotype effects. As reported in previous studies, we confirmed the involvement of immune functions in the pathophysiology of ASD. Notwithstanding the complexity of the disorder, suitable biomarkers such as CLEC11A and its neighbor SHANK1 can be discovered using integrative analyses even with peripheral tissues

Repaired tetralogy of Fallot: the roles of cardiovascular magnetic resonance in evaluating pathophysiology and for pulmonary valve replacement decision support

Surgical management of tetralogy of Fallot (TOF) results in anatomic and functional abnormalities in the majority of patients. Although right ventricular volume load due to severe pulmonary regurgitation can be tolerated for many years, there is now evidence that the compensatory mechanisms of the right ventricular myocardium ultimately fail and that if the volume load is not eliminated or reduced by pulmonary valve replacement the dysfunction might be irreversible. Cardiovascular magnetic resonance (CMR) has evolved during the last 2 decades as the reference standard imaging modality to assess the anatomic and functional sequelae in patients with repaired TOF. This article reviews the pathophysiology of chronic right ventricular volume load after TOF repair and the risks and benefits of pulmonary valve replacement. The CMR techniques used to comprehensively evaluate the patient with repaired TOF are reviewed and the role of CMR in supporting clinical decisions regarding pulmonary valve replacement is discussed