University of Modena and Reggio Emilia
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Genetic characterization of adult-onset cryptogenic cholestasis: a prospective multicentre study of 233 patients
No full textBackground and Aims: Inherited cholestatic liver diseases are rare disorders that impact the production or transport of bile, traditionally regarded as conditions of childhood. With the implementation of Next-Generation Sequencing (NGS) panels in clinical practice, there is growing interest in assessing the role of mutations in these genes in Adult-Onset Cryptogenic Cholestasis (AOCC) as well. We investigated a multigene panel, as these genes have been insufficiently studied in both young individuals and adults.
Method: From February 2017 to May 2023, all outpatients over 14 years old with AOCC were consecutively enrolled at four tertiary referral centres in Italy. We analysed the presence of mutations through high-throughput sequencing, including 36 genes: the detected variants were classified according to the American College of Medical Genetics and Genomics criteria.
Results: 233 patients with AOCC underwent molecular analysis. Among these, 108 (46.4%) were male, with a median age at presentation of 35.6 (± 15.2) years: Serum bile acids (16.2 ± 2.8 μmol/L) and alkaline phosphatase (154,6 ± 95,2 UI/L) were moderately elevated, and the patients exhibited liver stiffness consistent with mild liver fibrosis (6.7 ± 2.4 kPa). Out of 99 liver biopsies, 41 (41.4%) showed cholestasis on histology, including reduced expression of MDR3 and BSEP. Pathogenic (P) or likely pathogenic (LP) mutations were identified in 45 (19.3%) probands, either as single or compound heterozygosity. Including variants of uncertain significance (VUS), mutations occurred in 106 patients (45.5%). Considering all P/LP/VUS, the most recurrent genes were: ABCB4 (27 cases), TJP2 (18), SLC01B3 (10), ABCB11 (9), MYO5B (8), ABCC2 (7), VPS33B (6), and ATP8B1 (5). We compared the features of patients with P/LP mutations to those of others in the cohort study. No differences were observed in liver stiffness, itching history, choleretic drugs, or blood tests, except for bile acids (BAs). Female sex, BAs, age at testing, intrahepatic cholestasis of pregnancy (ICP), family history of liver disease, juvenile cholelithiasis, and low phospholipid-associated cholelithiasis occurred more frequently in patients with P/LP (p < 0.05). The multivariate analysis indicated that the only independent factors associated with disease-causing mutations were ICP and juvenile cholelithiasis.
Conclusion: Mutations in the genes responsible for inherited cholestasis were found to recur in AOCC in numerous cases with mild liver fibrosis, particularly in individuals with a history of juvenile cholestasis and ICP. The ABCB4 gene was the most frequently involve
Geometry Education at Secondary Level – a Systematic Literature Review
Get PDFThis systematic literature review summarises research on geometry education published since 2013. It begins with a conceptualization of the geometry education using the didactic tetrahedron model. The PRISMA guidelines were used to search five databases, in addition to conference proceedings and journals. The keywords and abstracts from the articles were analyzed using the "Voyant Tool" that created a list of the frequencies of words and their possible relationships to each other. This informed the development of codes that were analyzed to develop categories related to the process skills Arguing and Reasoning, Proving and Reasoning, Problem Solving, and Modeling; the content skills Plane Geometry, Spatial Geometry, and Measurement, including Area and Volume; concepts that include Assessment, Gamification and Computational Thinking; and finally Teaching Competencies and Teaching Theories. The results of this overview show trends and developments that should be considered in geometry research in the coming years
The precision land knowledge of the past enables tailor-made environment therapy and empathy for nature
Get PDFThe uniqueness of each environmental context urgently requires a new vision of environmental and health protection. We propose a new view of environmental diseases that focuses on the value of the individual locality rather than on the generalisations smoothing out differences. By focusing on paleoenvironmental reconstructions, the Pro-Anthropocene data show trajectories that led to and explain the current developments. The evolution of local biodiversity and its transformations over time reveal differentiating elements not only based on the current appearance but also on long-time trajectory of each site. We gathered data from archaeological sites and surrounding ancient landscapes in Italy, drawing from 1,208 pollen spectra. Italy serves as a prime example of a bio-cultural hotspot. By means of β-diversity-based statistical analyses to assess biological uniqueness of the sites, we tested the hypothesis that, despite the low taxonomic resolution of pollen identification and the uniformity of anthropogenic habitats, many sites would result floristically unique. We discuss the role of archaeological sites as robust support for sustainability through nature-based solutions. Drawing for the first time a parallel between workflows in precision medicine and palaeoecology, we propose that a site-specific study—referred to as Precision Land Knowledge of the Past (PLKP)—is crucial for planning effective conservation and restoration efforts. While recognising the resilience of ecosystems, this innovative approach promises to have the power to raise public awareness of the importance of caring for natur
Active optical modulation in hybrid transparent-conductive oxide/electro-optic multilayers
Get PDFWe report the room temperature, low-voltage-enabled modulation of the optical response of hybrid transparent-conductive-oxide/ferroelectric multilayers. We have fabricated an optical multilayer consisting of Al-doped ZnO (AZO) and BaTiO3 films deposited on a Nb-doped SrTiO3(110) substrate. Applying a low voltage between the AZO film and the substrate, a significant variation of the system's optical response has been detected by means of in operando spectroscopic ellipsometry. The voltage-induced variations have been ascribed to a combination of charge accumulation/depletion at the insulator/semiconductor interface and the field-induced Pockels effect in the BaTiO3 layer and successfully reproduced by an optical model including these effects. We have deduced a variation of the refractive index in AZO in the infrared range by more than 0.1 at an applied bias of 0.2 V and by more than 2 at an applied bias of just 3 V at room temperature, which can be strongly appealing for voltage-modulated active optical systems
Nanoemulsions of cannabidiol, Δ9-tetrahydrocannabinol, and their combination similarly exerted anticonvulsant and antioxidant effects in mice treated with pentylenetetrazole
Get PDFBackground/Objectives: The main biologically active molecules of Cannabis sativa L. are cannabidiol (CBD) and Δ9-tetrahydrocannabinol (THC). Both exert anticonvulsant effects when evaluated as single drugs, but their possible interaction as components of C. sativa extracts has been scarcely studied. For this reason, we evaluated CBD and THC, combined or not, in two seizure models in mice, using an improved vehicle formula. Methods: Firstly, acute seizures were induced by intraperitoneal (i.p.) pentylenetetrazole (PTZ, 80 mg/kg), and mice received CBD or THC at 1, 3, 6, and 10 mg/kg, or a CBD/THC 1:1 combination at 1.5, 3, and 6 mg/kg, per os (p.o.), one hour before PTZ administration. Secondly, mice received p.o. CBD (10 mg/kg), CBD/THC (1.5, 3, and 6 mg/kg), valproic acid (50 mg/kg), or vehicle (nanoemulsions without CBD or THC), one hour before PTZ (30 mg/kg, i.p.) every other day for 21 days. Behavioral, biochemical, and immunohistochemical analyses were performed to assess the response to PTZ, oxidative stress, and astroglial activation. Results: In the acute model, CBD and THC at 3-10 mg/kg, and their combinations, significantly increased latency to generalized seizures and death, and improved survival rates. In the chronic model, similarly to valproic acid, CBD 10 mg/kg and CBD/THC at 1.5 and 3 mg/kg delayed kindling acquisition, while CBD/THC 6 mg/kg had no effect. CBD and CBD/THC treatments reduced oxidative and nitrosative stress and attenuated astrogliosis, as indicated by decreased glial fibrillary acidic protein and GABA transporter 1 expression and increased inwardly rectifying potassium channel 4.1 expression in hippocampal regions. However, no cannabinoid treatment prevented the impairment in novel object recognition and Y maze tests. Conclusions: These findings support the potential role of cannabinoids in counteracting seizures, possibly by reducing oxidative stress and astrogliosis. The study also highlights the importance of nanoemulsions as a delivery vehicle to enhance cannabinoid effectiveness while considering the risks associated with direct cannabinoid receptor activation
Uztáriz and the Origins of the “Science of Commerce” in Europe
No full textUztáriz published his renowned Theórica y práctica de comercio y de marina in Madrid between 1724 and 1725. in the context of the reshaping of international trade and politics brought about by the end of the War of the Spanish Succession, the Theórica was above all a proposal to guide the economic policy of Philip V, Spain’s first Bourbon monarch, with the aim of setting the country on a path of economic progress similar to that of its much-envied neighbours. The fact that 2024 is the third centenary of the work’s publication has created a particularly auspicious framework for promoting the multinational and multidisciplinary research that has taken full shape in this book
Anisotropic superconductivity in the quasi-one-dimensional superconductor V2Ga5
Get PDFThe intermetallic quasi-one-dimensional binary superconductor V2Ga5 was recently found to exhibit a topologically nontrivial normal state, making it a natural candidate for a topological superconductor. By combining dc-magnetization, nuclear magnetic resonance, and muon-spin rotation ([Formula: see text]SR) measurements on high-quality V2Ga5 single crystals, we investigate the electronic properties of its normal- and superconducting ground states. NMR measurements in the normal state indicate a strong anisotropy in both the line shifts and the relaxation rates. Such anisotropy persists also in the superconducting state, as shown by the magnetization- and [Formula: see text]SR-spectroscopy results. In the latter case, data collected at different temperatures, pressures, and directions of the magnetic field evidence a fully-gapped, strongly anisotropic superconductivity. At the same time, hydrostatic pressure is shown to only lower the [Formula: see text] value, but not to change the superfluid density nor its temperature dependence. Lastly, we discuss the search for topological signatures in the normal state of V2Ga5, as well as a peak splitting in the FFT of the [Formula: see text]SR spectrum, possibly related to an unconventional vortex lattice. Our results suggest that V2Ga5 is a novel system, whose anisotropy plays a key role in determining its unusual electronic properties
Large Deviations and Additivity Principle for the Open Harmonic Process
Get PDFWe consider the boundary driven harmonic model, i.e. the Markov process associated to the open integrable XXX chain with non-compact spins. We characterize its stationary measure as a mixture of product measures. For all spin values, we identify the law of the mixture in terms of the Dirichlet process. Next, by using the explicit knowledge of the non-equilibrium steady state we establish formulas predicted by Macroscopic Fluctuation Theory for several quantities of interest: the pressure (by Varadhan's lemma), the density large deviation function (by contraction principle), the additivity principle (by using the Markov property of the mixing law). To our knowledge, the results presented in this paper constitute the first rigorous derivation of these macroscopic properties for models of energy transport with unbounded state space, starting from the microscopic structure of the non-equilibrium steady state
Deposition of high-velocity oxygen-fuel (HVOF) coatings on laser-powder bed fused (L-PBF) parts subjected to in-situ laser remelting treatments
Get PDFIn this work, we focused on enhancing the adhesion between High Velocity Oxygen-Fuel (HVOF) sprayed coatings and Laser-Powder Bed Fused (L-PBF) substrates by modifying the substrate surface through in-situ laser remelting treatments. Additionally, we investigated whether deposition on laser-treated substrates affected the coating microstructure and performance. Therefore, WC-10%Co-4%Cr coatings were deposited on AISI 316 L stainless steel substrates in as-built conditions and after two different in-situ laser remelting treatments. All substrates were coated both before and after a pickling treatment. Grit-blasted bulk stainless steel samples served as references. Laser remelting changed the morphology of the L-PBF surfaces depending on the laser parameters used. The most energetic treatment resulted in more widely spaced grooves and melted the unmelted spherical particles attached to the as-built surface, leading to a more uniform material distribution. These changes influenced the adhesion-cohesion of the coatings. Although all tensile test failures were primarily cohesive, the coatings deposited on the substrates subjected to the most energetic treatment exhibited an increased adhesion-cohesion strength, exceeding 80 MPa, while all other samples showed values around 70 MPa. When the substrate was subjected to remelting treatments, however, the corrosion resistance of the coated systems decreased due to faster substrate corrosion in areas exposed to corrosive agents penetrating through coating defects
