A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report

Mutations in the tubulin-specific chaperon D (TBCD) gene, involved in the assembly and disassembly of the α/β-tubulin heterodimers, have been reported in early-onset progressive neurodevelopment regression, with epilepsy and mental retardation. We describe a rare homozygous variant in TBCD, namely c.881G>A/p.Arg294Gln, in a young woman with a phenotype dominated by distal motorneuronopathy and mild mental retardation, with neuroimaging evidence of corpus callosum hypoplasia. The peculiar phenotype is discussed in light of the molecular interpretation, enriching the literature data on tubulinopathies generated from TBCD mutations

Multi-band high resolution spectroscopy rules out the hot Jupiter BD+20 1790b - First data from the GIARPS Commissioning

Context. Stellar activity is currently challenging the detection of young planets via the radial velocity (RV) technique. Aims. We attempt to definitively discriminate the nature of the RV variations for the young active K5 star BD+20 1790, for which visible (VIS) RV measurements show divergent results on the existence of a substellar companion. Methods. We compare VIS data with high precision RVs in the near infrared (NIR) range by using the GIANO - B and IGRINS spectrographs. In addition, we present for the first time simultaneous VIS-NIR observations obtained with GIARPS (GIANO - B and HARPS - N) at Telescopio Nazionale Galileo (TNG). Orbital RVs are achromatic, so the RV amplitude does not change at different wavelengths, while stellar activity induces wavelength-dependent RV variations, which are significantly reduced in the NIR range with respect to the VIS. Results. The NIR radial velocity measurements from GIANO - B and IGRINS show an average amplitude of about one quarter with respect to previously published VIS data, as expected when the RV jitter is due to stellar activity. Coeval multi-band photometry surprisingly shows larger amplitudes in the NIR range, explainable with a mixture of cool and hot spots in the same active region. Conclusions. In this work, the claimed massive planet around BD+20 1790 is ruled out by our data. We exploited the crucial role of multi- wavelength spectroscopy when observing young active stars: thanks to facilities like GIARPS that provide simultaneous observations, this method can reach its maximum potential.Comment: 12 pages, 7 figure

Strangeness Content in the Nucleon

I review recent studies of strangeness content in the nucleon pertaining to the flavor-singlet $g_A^0$, the $\bar{s}s$ matrix element and the strangeness electric and magnetic form factors $G_E^s(q^2)$ and $G_M^s(q^2)$, based on lattice QCD calculations. I shall also discuss the relevance of incorporating the strangeness content in nuclei in regard to strange baryon-antibaryon productions from proton-nucleus and nucleus-nucleus collisions at SPS and RHIC energies.Comment: 11 pages, 4 figures, Invited talk at V Int. Conf. on Strangeness in Quark Matter, Berkeley, CA, July 20--25, 200

Building a digitally ready education system with a bioethical framework - the new normal

This policy brief highlights the timely need to foster digital literacy skills in higher education institutions and provides a model of digital education structured through a bioethical framework. Our reflection is brought forth by the growing pervasiveness of technology within the societal context and the lack of adequate education to tackle present and future challenges. At the same time, we recognize that an essential element of digital education is represented by the ability to critically think about the spectrum of both current and potential harms and benefits of digital technologies. This awareness underlines the very concept of digital literacy as characterized by both practical and thought components. As such, we propose an interdisciplinary model of digital literacy education composed of a basic foundation for digital ethics represented by the set of values characterised in the Universal Declaration on Bioethics and Human Rights, and two categories of digital literacy skills

Ecto-5’-nucleotidase: Structure function relationships

Ecto-5’-nucleotidase (ecto-5’-NT) is attached via a GPI anchor to the extracellular membrane, where it hydrolyses AMP to adenosine and phosphate. Related 5’-nucleotidases exist in bacteria, where they are exported into the periplasmic space. X-ray structures of the 5’-nucleotidase from E. coli showed that the enzyme consists of two domains. The N-terminal domain coordinates two catalytic divalent metal ions, whereas the C-terminal domain provides the substrate specificity pocket for the nucleotides. Thus, the substrate binds at the interface of the two domains. Here, the currently available structural information on ecto-5’NT is reviewed in relation to the catalytic properties and enzyme function

Production of Λ6^{6}_{\Lambda}H and Λ7^{7}_{\Lambda}H with the (Kstop−^{-}_{stop},π+\pi^+) reaction

The production of neutron rich $\Lambda$-hypernuclei via the ($K^-_stop$,$\pi^+$) reaction has been studied using data collected with the FINUDA spectrometer at the DA$\Phi$NE $\phi$-factory (LNF). The analysis of the inclusive $\pi^+$ momentum spectra is presented and an upper limit for the production of $^6_\Lambda$H and $^7_\Lambda$H from $^6$Li and $^7$Li, is assessed for the first time.Comment: 11 pages, 3 figures. Accepted for publication in PL

Prospect for Charge Current Neutrino Interactions Measurements at the CERN-PS

Tensions in several phenomenological models grew with experimental results on neutrino/antineutrino oscillations at Short-Baseline (SBL) and with the recent, carefully recomputed, antineutrino fluxes from nuclear reactors. At a refurbished SBL CERN-PS facility an experiment aimed to address the open issues has been proposed [1], based on the technology of imaging in ultra-pure cryogenic Liquid Argon (LAr). Motivated by this scenario a detailed study of the physics case was performed. We tackled specific physics models and we optimized the neutrino beam through a full simulation. Experimental aspects not fully covered by the LAr detection, i.e. the measurements of the lepton charge on event-by-event basis and their energy over a wide range, were also investigated. Indeed the muon leptons from Charged Current (CC) (anti-)neutrino interactions play an important role in disentangling different phenomenological scenarios provided their charge state is determined. Also, the study of muon appearance/disappearance can benefit of the large statistics of CC muon events from the primary neutrino beam. Results of our study are reported in detail in this proposal. We aim to design, construct and install two Spectrometers at "NEAR" and "FAR" sites of the SBL CERN-PS, compatible with the already proposed LAr detectors. Profiting of the large mass of the two Spectrometers their stand-alone performances have also been exploited.Comment: 70 pages, 38 figures. Proposal submitted to SPS-C, CER

A study of the proton spectra following the capture of K−K^- in 6^6Li and 12^{12}C with FINUDA

Momenta spectra of protons emitted following the capture of $K^-$ in $^6$Li and $^{12}$C have been measured with 1% resolution. The $^{12}$C spectrum is smooth whereas for $^6$Li a well defined peak appears at about 500 MeV/$c$. The first observation of a structure in this region was identified as a strange tribaryon or, possibly, a $\bar K$-nuclear state. The peak is correlated with a $\pi^-$ coming from $\Sigma^-$ decay in flight, selected by setting momenta larger than 275 MeV/$c$. The $\Sigma^-$ could be produced, together with a 500 MeV/$c$ proton, by the capture of a $K^-$ in a deuteron-cluster substructure of the $^6$Li nucleus. The capture rate for such a reaction is (1.62\pm 0.23_{stat} ^{+0.71}_{-0.44}(sys))%/K^-_{stop}, in agreement with the existing observations on $^4$He targets and with the hypothesis that the $^6$Li nucleus can be interpreted as a $(d+\alpha)$ cluster.Comment: 21 pages, 10 figures. Accepted for publication in NP