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Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult
Get PDF22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia, who was newly diagnosed with 22q11.2 deletion syndrome during an episode of hypocalcaemia. The syndrome is caused by developmental abnormalities of the embryonic pharyngeal arch system. Treatment of hypocalcaemia with oral calcium and vitamin D is usually sufficient
Pandemia e Generatività. Bambini e adolescenti ai tempi del Covid
Get PDFIl volume costituisce il frutto di un approfondimento che si è sviluppato all’interno della Consulta Scientifica del Cortile dei Gentili nel solco delle riflessioni emerse a partire dal volume pubblicato nel 2020“Pandemia e resilienza. Persona, comunità e modelli di sviluppo dopo la Covid-19" (a cura di Cinzia Caporale e Alberto Pirni), che ha già superato 100.000 download.
Edito da Cnr Edizioni e curato da Cinzia Caporale e Carla Collicelli, questo secondo volume affronta la pandemia nella prospettiva delle giovani generazioni. Sedici i contributi suddivisi nelle sezioni “La denatalità”, “La socialità giovanile al tempo della pandemia”, “Quale futuro per le giovani generazioni” e “Spunti e prospettive per la ricerca, la medicina e la salute pubblica”.
Scrive Giuliano Amato nell’Introduzione:/"Un contributo della nostra Consulta a temi di tanta fondamentale importanza per tutti noi non potrebbe concludersi senza un forte e pressante richiamo agli investimenti che non toccano alle istituzioni pubbliche e che non sono investimenti in danaro. Intervenire sulla denatalità e sul benessere attuale e futuro delle giovani generazioni, significa investire convintamente sulla solidarietà intergenerazionale e quindi su un condiviso obbligo etico che deve assumere un carattere sia sincronico sia diacronico, sia locale sia sovralocale. In un’ideale prospettiva nella quale non solo i cosiddetti “giovani” siano chiamati a comportamenti responsabili verso i cosiddetti “anziani”, ma ogni individuo, appartenente alle più diverse fasce d’età, sia chiamato a fare qualcosa in più per sé stesso e, al tempo stesso, verso ogni altro"
Recurrence of Graves’ Disease (a Th1-type Cytokine Disease) Following SARS-CoV-2 mRNA Vaccine Administration: A Simple Coincidence?
Get PDFGraves’ disease is the most frequent cause of hyperthyroidism in young women. This auto-immune disease is due to the production of class 1 IgG stimulating the TSH receptor. These antibodies are produced secondary to a Th1 immune response in which interferon gamma plays a key role. Vaccination is ongoing worldwide against SARS-CoV-2 and some of the vaccines include mRNA which seems to stimulate the Th1 immune response. Here, we report a case of recurrence of hyperthyroidism due to Graves’ disease following mRNA vaccination and discuss the possible implicated mechanism. This observation argues for a systematic study of a population of patients with previous Graves’ disease in order to assess the risk of recurrence following vaccination
Isospin mixing in the 60Zn nucleus
No full textAn experimental study of the isospin mixing for the 60Zn nucleus was made by measuring the γ-decay from the Giant Dipole Resonance. Two compound nuclei, 60Zn and 62Zn, were populated at two different excitation energies, E∗ = 47 MeV and E∗ = 58 MeV, using the fusion evaporation reactions 32S +28 Si, at the bombarding energy of 86 MeV and 110 MeV, and 32S+30 Si, at 75 MeV and 98 MeV. The 62Zn nucleus was used as a reference. In the experiment, performed at the LNLINFN laboratory, the γ-rays were measured with the GALILEO detection system in which large-volume LaBr3(Ce) detectors were added to the HPGe detectors. The Coulomb spreading width was obtained from the comparison of the two reactions. The isospin-mixing coefficient at zero temperature, of the order of 2.5%, was deduced and the measured value agrees with that from mass and beta-decay measurements and with theory. The isospin–symmetry-breaking correction δc used for the Fermi super-allowed transitions was also extracted from the value of the isospin impurity
6Li-enriched LiF films grown by thermal evaporation for neutron detection
No full textThe new generation of neutron detectors based on 6LiF thin films has been widely investigated in the last decades. The structure of polycristalline thin films has a significant impact upon their performance in neutron detectors, however the relationship between the physical properties of LiF-based thin films and their performance is still far from being completely understood. A systematic investigation of the role played by the growth conditions on the optical and morphological properties of thermally evaporated 6LiF thin films has been carried out by combining spectrophotometry, stylus profilometry and atomic force microscopy. A clear picture of the influence of film thickness and deposition temperature on transparency, porosity, roughness and grain size of polycristalline 6LiF thin films thermally evaporated on amorphous substrates has been obtained
The universe: A book written in the mathematical —and the programming— language
No full textThis paper concerns the pronounced shift that occurred, in the twentieth century, from the formulation of scientific laws with limited computational capabilities —a distinctive trend of the early and late modern periods— to the formulation and the massive computation that we can now perform with the aid of computer technologies. This change altered our relationship with science, and thus our ambitions with nature. What seems clear is that the universe —the “grand book” that “stands continually open to our gaze”— is not solely written with “triangles, circles, and other geometric figures”, as Galileo Galilei put it, but also with languages whose characters consist of data, processes, structures and other constructs of computer programs without which we would now wander about “in a dark labyrinth”
Proton inelastic scattering in 68,70,72Ni isotopes
No full textA preliminary analysis of the proton inelastic scattering of 68,70,72Ni at intermediate energies will be discussed. This measurement is important for the study of the nuclear shell’s evolution in the nickel isotopic chain. A brief description of the physics case, the setup, and the particle identification methods will be presented
Twist-induced local curvature of filaments in DNA toroids
No full textDNA toroidal bundles form upon condensation of one or multiple DNA filaments. DNA filaments in toroidal bundles are hexagonally packed, and collectively twist around the center line of the toroid. In a previous study, we and our coworkers argue that the filaments’ curvature locally correlates with their density in the bundle, with the filaments less closely packed where their curvature is higher. We base our claim on the assumption that twist has a negligible effect on the local curvature of filaments in DNA toroids. However, this remains to be proven. We fill this gap here, by calculating the distribution of filaments’ curvature in a geometric model of twisted toroidal bundle, which we use to describe DNA toroids by an appropriate choice of parameters. This allows us to substantiate our previous study and suggest directions for future experiments
Cooperation between schools and university developing professional skills for Prospective Primary Teachers
No full textPhysics Education and the relative Laboratory for Physics Education course for Prospective Primary Teachers (PPTs) at the University of Udine include activities, articulated in different topics and carried out in collaboration with
schools; this collaboration arises in the context of an interactive exhibition based on hands-on and minds-on experiments where PPTs implement educational paths planned on physics education. We report here the characteristics of the researchbased experience carried out in Tolmezzo (Udine, Italy), involving the PPTs professional formative process, the local schools and relative teachers, with the support of Fondazione Pittini
Measurement of beryllium isotopic composition in cosmic rays with the AMS-02 experiment on the International Space Station
No full textCosmic rays are a powerful tool for the investigation of the structure of the magnetic fields in the galactic halo and of the properties of the Inter-Stellar Medium. Two parameters of the cosmic rays propagation models, the galactic halo (half-) thickness, H, and the diffusion coefficient, D, are loosely constrained by current cosmic rays flux measurements, in particular a large degeneracy exists being only H/D well measured. The 10Be/9Be isotopic flux ratio (thanks to the 2 My lifetime of 10Be) can be used as a radioactive clock providing the measurement of
cosmic rays residence time in the galaxy. This is an important probe to solve the H/D degeneracy. Past measurements of 10Be/9Be isotopic flux ratio in CR are
scarce, limited to low energy and affected by large uncertainties. In this work, new preliminary measurements of 10Be/9Be and complementary 7Be/Be flux ratios are
presented, both obtained from the data of the AMS-02 experiment