A Cross-Linguistic Study of the Relationship between Grammar & Lexical Development

The relationship between grammatical and lexical development was compared in 233 English and 233 Italian children aged between 1;6 and 2;6, matched for age, gender, and vocabulary size on the MacArthur Communicative Development Inventories (CDI). Four different measures of Mean Length of Utterance were applied to the three longest utterances reported by parents, and to corrected/expanded versions representing the 'target' for each utterance. Italians had longer MLUs on most measures, but the ratio of actual to target MLUs did not differ between languages. Age and vocabulary both contributed significant variance to MLU, but the contribution of vocabulary was much larger, suggesting that vocabulary size may provide a better basis for crosslinguistic comparisons of grammatical development. The relationship between MLU and vocabulary size was non-linear in English but linear in Italian, suggesting that grammar 'gets off the ground' earlier in a richly inflected language. A possible mechanism to account for this difference is discussed

Requirements of the authorized examinator physician (AME) for class II: interpretative doubts and suggestions

The purpose of this document is to clarify the requirements that a doctor must have for carrying out the Authorized Examiner (AME) activity for class II workers. We have consulted the normative sources that indicate the requisite that the authorized physicians must possess and subsequently we have compared the norms, the European Union regulations and the national ones issued by the National Civil Aviation Body (ENAC), as well as the guidelines indicated by the EASA. Finally, Authors give suggestions that can be given to ENAC regarding the issue of the authorization as AME examiner for class II workers

Electron-Promoted Desorption from Water Ice Surfaces: Neutral Gas Phase Products

Electron-promoted desorption (EPD) from compact amorphous solid water (c-ASW) has been studied. Low-energy electron bombardment with 200–300 eV electrons leads to H2O depletion, as monitored by reflection–absorption infrared spectroscopy (RAIRS) of the remaining c-ASW film. Cross sections for H2O depletion were calculated to be in the range from 1.6 ± 1.0 × 10–16 to 5.2 ± 3.0 × 10–16 cm2. However, mass spectrometric measurements identify a major component of the desorbing material as H2, which appears with kinetics similar to those for H2O loss. Molecular H2O is observed as a minor desorption product in the gas phase

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

Background and objectives: Genetic variants in the gene TARDBP, encoding TDP-43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases. Objectives of this study were to assess the contribution of TARDBP in a large cohort of Italian ALS patients, to determine the TARDBP-associated clinical features and to look for genotype-phenotype correlation and penetrance of the mutations.Methods: A total of 1992 Italian ALS patients (193 fALS and 1799 sALS) were enrolled in this study. Sanger sequencing of TARDBP gene was performed in patients and, when available, in patients' relatives.Results: In total, 13 different rare variants were identified in 43 index cases (10 fALS and 33 sALS) with a cumulative mutational frequency of 2.2% (5.2% of fALS, 1.8% of sALS). The most prevalent variant was the p.A382T followed by the p.G294V. Cognitive impairment was detected in almost 30% of patients. While some variants, including the p.G294V and the p.G376D, were associated with restricted phenotypes, the p.A382T showed a marked clinical heterogeneity regarding age of onset, survival and association with cognitive impairment. Investigations in parents, when possible, showed that the variants were inherited from healthy carriers and never occurred de novo.Conclusions: In our cohort, TARDBP variants have a relevant frequency in Italian ALS patients and they are significantly associated with cognitive impairment. Clinical presentation is heterogeneous. Consistent genotype-phenotype correlations are limited to some mutations. A marked phenotypic variability characterizes the p.A382T variant, suggesting a multifactorial/oligogenic pathogenic mechanism

Probing model interstellar grain surfaces with small molecules

Temperature-programmed desorption and reflection-absorption infrared spectroscopy have been used to explore the interaction of oxygen (O2), nitrogen (N2), carbon monoxide (CO) and water (H2O) with an amorphous silica film as a demonstration of the detailed characterization of the silicate surfaces that might be present in the interstellar medium. The simple diatomic adsorbates are found to wet the silica surface and exhibit first-order desorption kinetics in the regime up to monolayer coverage. Beyond that, they exhibit zero-order kinetics as might be expected for sublimation of bulk solids. Water, in contrast, does not wet the silica surface and exhibits zero-order desorption kinetics at all coverages consistent with the formation of an islanded structure. Kinetic parameters for use in astrophysical modelling were obtained by inversion of the experimental data at sub-monolayer coverages and by comparison with models in the multilayer regime. Spectroscopic studies in the sub-monolayer regime show that the C–O stretching mode is at around 2137 cm−1 (5.43 μm), a position consistent with a linear surface–CO interaction, and is inhomogenously broadened as resulting from the heterogeneity of the surface. These studies also reveal, for the first time, direct evidence for the thermal activation of diffusion, and hence de-wetting, of H2O on the silica surface. Astrophysical implications of these findings could account for a part of the missing oxygen budget in dense interstellar clouds, and suggest that studies of the sub-monolayer adsorption of these simple molecules might be a useful probe of surface chemistry on more complex silicate materials

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation

Aspetti evolutivi della ripetizione monologica in età prescolare

The phenomenon of repetition is the presence of two items in a dialogue, employed with a certain temporal contiguity by two different locutors or by the same locutor for one possible dialogical goal. In particular, dialogical repetition (i.e. children’s repetition of an adult item) is believed to be an important strategy for acquiring lexical entries, morphological and syntactic structures (Bazzanella 1996). On the contrary, monological repetition (i.e. repetition of children’s symbols) has not a specifi c morphological or syntactic value but is apparently instance of copying and is supposed to disappear when the child acquires his/her fi rst complex utterances. The present study focuses on the role of monological repetition in pre-school children’s acquisition of syntactic structures. The main assumption is that also this type of repetition could be involved in the process of analyzing and rebuilding language, especially in the transition from simple to complex utterances. Expanding on research by Slobin (1985) and Cresti & Moneglia (1996), we have defi ned monological repetition as the repetition of children’s symbols between different turns of the child or within the same turn. We transcribed utterances from 50 children, aged 2 to 4 years (subdivided into fi ve age bands, with 10 children in each). We applied the Prosodic Method (Moneglia 1997) to identify utterances and categorize repetition categories (Bazzanella 1996). We examined both the simple and the complex utterances and identifi ed four functional categories of monological repetition : 1) lexical refi nement ; 2) expansion of the utterance ; 3) syntactic complexity ; 4) morphology. The results suggest that the children use the categories in a selective mode, according to their age. The 2 years old children mostly use the lexical refi nement function, while children aged from 3 to 4 seem to prefer the other types of repetition (i.e. expansion of the utterance, syntactic complexity and morphology). We may conclude that monological repetition is a strategy for acquiring both dialogical ability, which is present from the very beginning of language, and syntactic structures, which appear late in development