Brain regions and functional interactions supporting early word recognition in the face of input variability

Perception and cognition in infants have been traditionally investigated using habituation paradigms, assuming that babies' memories in laboratory contexts are best constructed after numerous repetitions of the very same stimulus in the absence of interference. A crucial, yet open, question regards how babies deal with stimuli experienced in a fashion similar to everyday learning situations-namely, in the presence of interfering stimuli. To address this question, we used functional near-infrared spectroscopy to test 40 healthy newborns on their ability to encode words presented in concomitance with other words. The results evidenced a habituation-like hemodynamic response during encoding in the left-frontal region, which was associated with a progressive decrement of the functional connections between this region and the left-temporal, right-temporal, and right-parietal regions. In a recognition test phase, a characteristic neural signature of recognition recruited first the right-frontal region and subsequently the right-parietal ones. Connections originating from the right-temporal regions to these areas emerged when newborns listened to the familiar word in the test phase. These findings suggest a neural specialization at birth characterized by the lateralization of memory functions: the interplay between temporal and left-frontal regions during encoding and between temporo-parietal and right-frontal regions during recognition of speech sounds. Most critically, the results show that newborns are capable of retaining the sound of specific words despite hearing other stimuli during encoding. Thus, habituation designs that include various items may be as effective for studying early memory as repeated presentation of a single word.European Research Council under European Union 269502 CONICYT-Chile Program PIA/BASAL FB0003 "Progetto strategico NEURAT" from the University of Padua CONICYT-Chile Program PAI/Academia 7913002

Reducing Energy Costs in European Union Farms: Analysis of Efficiency

Efficiency in the use of resources is one of the most adjusted approaches towards achieving sustainable development in any economic sector, including agriculture. In fact, the current challenges surrounding the global farming sector are to maintain, or even, in some circumstances, increase production in such a way that it is compatible with the increasingly desirable goals for decarbonisation. Amongst the resources which are critical for sustainability within the agricultural sector, one of the most significant is energy, considering the needs of this resource to generate numerous farming production factors and the energetic requirements for its various activities. This is particularly important in the regions and countries in the European Union, due to the variety of contexts and the framework of the European agricultural policies, where the design of adjusted policy instruments is always a great task. In this way, the main objective of this research is to analyse farming efficiency in European Union agricultural regions, over the period 2013–2018. Considering this objective, data from the European Union Farm Accountancy Data Network were considered and first analysed through factor-cluster assessment, to obtain homogenous decision-making units, and then through data envelopment analysis. For the data envelopment analysis, a model with the inverse of the energy costs as output was considered. The main findings show that the savings in energy costs in European Union farms have impacts on the output as well as on other inputs.info:eu-repo/semantics/publishedVersio

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. In 2009, the molecular characterization of 44 NPC Italian patients has been published. Here, we present an update of the genetic findings in 105 Italian NPC patients belonging to 83 unrelated families (77 NPC1 and 6 NPC2). NPC1 and NPC2 genes were studied following an algorithm recently published. Eighty-four different NPC1 and five NPC2 alleles were identified. Only two NPC1 alleles remained non detected. Sixty-two percent of NPC1 alleles were due to missense variants. The most frequent NPC1 mutation was the p.F284Lfs*26 (5.8% of the alleles). All NPC2 mutations were found in the homozygous state, and all but one was severe. Among newly diagnosed patients, 18 novel NPC1 mutations were identified. The pathogenic nature of 7/9 missense alleles and 3/4 intronic variants was confirmed by filipin staining and NPC1 protein analysis or mRNA expression in patient's fibroblasts. Taken together, our previous published data and new results provide an overall picture of the molecular characteristics of NPC patients diagnosed so far in Italy

<i>In vitro</i> functional analysis of new missense sequence variations.

<p>Total Hex activity after immunoprecipitation with anti-myc antibody of HEXB missense mutant proteins expressed in Hek293cells. Results are expressed as the percentage of total Hex activity detected after immunoprecipitation of myc-tagged normal HEXB expressed in Hek293cells (N). The data are shown as mean±SD of three different experiments, each performed in duplicate. ^*p<0.05.</p

<i>In silico</i> analysis of novel splicing mutations.

<p>ND: Not detected; ME: Maximum Entropy; NN: Neural Network.</p

Location of HEXB mutations on the 3D structural model.

<p>Chains A and B are drawn as orange and blue ribbons respectively. Positions of mutations are indicated by arrows and the residues represented by spaced-filled spheres.</p

MLPA analysis of SD1 and SD4 patients.

<p>Panels A–C: Capillary electrophoresis profile of the MLPA analysis performed in a normal control (panel A) and patients SD4 (panel B) and SD1 (panel C). Each peak corresponds to the amplification of a probe specific for each exon of <i>HEXB</i> gene (numbered 1 to 14) and for 3 different reference genes (R1, R2, R3). Arrows indicate the peaks corresponding to the <i>HEXB</i> exons deleted in SD1 and SD4 patients. Panel D) Relative quantification of <i>HEXB</i> copy number was obtained by dividing the height of each gene-specific peak by the sum of the heights of 3 reference gene peaks. This ratio was then compared to the average ratio obtained from 8 control samples having each 2 <i>HEXB</i> gene copies. A ratio between 0.75 and 1.25 corresponds to 2 <i>HEXB</i> copy number while a ratio between 0.25 and 0.75 corresponds to 1 <i>HEXB</i> copy number.</p