Introduction. Lexicographie spécialisée et ressources terminologiques et terminographiques

Introductio

Specialized Lexicography, terminology and reference tools

Ce numéro spécial de Lingue & Linguaggi s’interroge sur certains aspects théoriques et pratiques concernant les termes appartenant aux domaines de l’économie et du droit et notamment sur leur inclusion dans des ressources monolingues ou bilingues consultées par des usagers experts et non experts, selon une pluralité d’approches théoriques et méthodologiques. À côté de l’aspect domanial économique ou juridique, les questions théoriques qui tissent un fil rouge entre les différents articles concernent les aspects suivants: la réflexion autour de la définition des termes; le support que les corpus peuvent fournir à une représentation du sens tenant compte des objectifs spécifiques des usagers ciblés par les ressources elles-mêmes; l’utilité de la terminologie en tant qu’instrument cognitif apte à la structuration et à la dénomination de nouvelles idées dans des domaines spécialisés; les avantages ou les désavantages apportés par la facilité et la rapidité d’accès aux nombreuses ressources sur la Toile de la part du public – expert, semi expert ou profane

Proposições educativas e formativas em arte: do (im)previsível dessas composições aos arranjos e invenções de uma aula

Proposições educativas e formativas em arte: do (im)previsível dessas composições aos arranjos e invenções de uma aul

Analysing stress field conditions of the Colima Volcanic Complex (Mexico) by integrating finite-element modelling (FEM) simulations and geological data

In recent decades, finite-element modelling (FEM) has become a very popular tool in volcanological studies and has even been used to describe complex system geometries by accounting for multiple reservoirs, topography, and het- erogeneous distribution of host rock mechanical properties. In spite of this, the influence of geological information on numerical simulations is still poorly considered. In this work, 2D FEM of the Colima Volcanic Complex (Mexico) is pro- vided by using the Linear Static Analysis (LISA) software in order to investigate the stress field conditions with increas- ingly detailed geological data. By integrating the published geophysical, volcanological, and petrological data, we mod- elled the stress field considering either one or two magma chambers connected to the surface via dykes or isolated (not connected) in the elastic host rocks (considered homoge- neous and non-homogeneous). We also introduced tectonic disturbance, considering the effects of direct faults bordering the Colima Rift and imposing an extensional far-field stress of 5 MPa. We ran the model using the gravity in calculations. Our results suggest that an appropriate set of geological data is of pivotal importance for obtaining reliable numerical out- puts, which can be considered a proxy for natural systems. Beside and beyond the importance of geological data in FEM simulations, the model runs using the complex feeding system geometry and tectonics show how the present-day Col- ima volcanic system can be considered in equilibrium from a stress state point of view, in agreement with the long-lasting open conduit dynamics that have lasted since 1913

Time course and mechanisms of motoneuron death in a type II spinal muscular atrophy mouse model

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease leading to motor impairment, muscle atrophy and premature death caused by motoneuron degeneration. It is caused by the deletion/mutation of the telomeric survival motoneuron gene (SMN1), whereas the number of copies of the centromeric gene SMN2, which produces reduced levels of functional protein, is inversely proportional to the severity of disease (from severe to mild). However, the causes of selective motoneuron death still remain elusive. To clarify the time course and the mechanisms of motoneuron (MN) death, we investigated the SMNdelta7 murine model of SMA II (the intermediate SMA form), in which motor dysfunction leads to death at P13. We collected brains and spinal cords from SMA II and wild type embryos/pups at E19, P4, P9 and P13 for neuron counts and immunohistochemistry. Newborns underwent a battery of motor tasks and were assessed daily for body weight and survival. In ChAT-immunoreacted and Nissl-stained spinal sections, stereological counts reported a dramatic reduction in the number of lower (cervical) MNs (almost 40% at P13) in the SMA II mice; in particular MNs innervating proximal muscles seemed the most affected. In addition, we noticed an increased ChAT expression through time, making ChAT-MN count less reliable than Nissl-ones. Moreover, even though most studies mainly report death of lower motoneurons, stereological counts in the motor cortex revealed a specific decrease of layer V cortical pyramidal neurons in SMA II mice compared to WT. Also the corpus callosum thickness appeared halved in the P9 SMA II mice. Finally, immunohistochemistry against cleaved Caspase-3 and LC-3 suggested an involvement of the apoptotic and autophagic modes of cell death, respectively. Therefore, at least in the animal model, SMA affects both upper and lower motoneurons, and SMN1 role in neuronal development and survival should be further investigated. Targeting apoptotic and autophagic pathways can delay the disease progression, as we are currently showing in other studies

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy

Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center

BackgroundVein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high output heart failure (HOHF) and are at risk for severe neurological outcomes.ObjectiveTo describe the clinical course and management of newborns with VGAM, and identify which echocardiographic and neuroradiologic factors may be associated with severe heart failure at birth and adverse short term outcomes.MethodsThis is a single center retrospective cohort study including all consecutive newborns with VGAM admitted to Gaslini Children's Hospital between 2009 and 2022. We reviewed clinical data, intensive care support, fetal and neonatal cardiologic and neuroradiologic findings and we studied the association with severe HOHF, endovascular complications and death.ResultsOut of 40 newborns, 17 (42.5%) developed severe HOHF requiring early endovascular procedures. Medical treatment was focused on the main components of HOHF by providing inotropic support and peripheral vasodilation. Pulmonary vasodilators were avoided to reduce the negative effects of pulmonary overflow and prevent vascular remodeling. Reduction of the obligatory left to right shunt through the VGAM was possible only through endovascular treatment. Fetal cardiothoracic ratio was significantly associated with severe HOHF at birth and death. Cardiologic parameters of right ventricular overload, pulmonary hypertension and systemic steal were the leading findings associated with haemodynamic compromise at birth. The mediolateral diameter of the straight or falcine sinus at its shortest section (SS-MD), and arterial pseudofeeders were significantly associated with severe HOHF at birth in prenatal and postnatal assessments. None of the postnatal echocardiographic and MRI variables, nor a higher inotropic support were associated with major periprocedural complications or death. Mortality was due to palliation for congenital severe brain damage (4/40, 10%), or major periprocedural complications (3/40, 7.5%). None of the patients died due to HOHF and multiorgan failure. Overall survival at discharge was 82.5% (33/40).ConclusionsThe complexity of neonatal VGAM pathophysiology requires a multidisciplinary approach, specialized intensive care management, and early endovascular treatment to reduce mortality and optimize clinical outcomes. Cardiologic and neuroradiologic parameters are key to define risk stratification and treatment strategies

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.</p

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.</p