Forecasting consumer confidence through semantic network analysis of online news

This research studies the impact of online news on social and economic consumer perceptions through semantic network analysis. Using over 1.8 million online articles on Italian media covering four years, we calculate the semantic importance of specific economic-related keywords to see if words appearing in the articles could anticipate consumers' judgments about the economic situation and the Consumer Confidence Index. We use an innovative approach to analyze big textual data, combining methods and tools of text mining and social network analysis. Results show a strong predictive power for the judgments about the current households and national situation. Our indicator offers a complementary approach to estimating consumer confidence, lessening the limitations of traditional survey-based methods

Brief communication: The curious case of the large wood-laden flow event in the Pocuro stream (Chile)

Large wood transported during extreme flood events can represent a relevant additional source of hazards that should be taken into account in mountain environments. However, direct observations and monitoring of large-wood transport during floods are difficult and scarce. Here we present a video of a flood characterised by multiple phases of large-wood transport, including an initial phase of wood-laden flow rarely described in the literature. Estimations of flow velocity and transported wood volume provide a good opportunity to develop models of large-wood-congested transport

Characterization of wood-laden flows in rivers

Inorganic sediment is not the only solid‐fraction component of river flows; flows may also carry significant amounts of large organic material (i.e., large wood), but the characteristics of these wood‐laden flows (WLF) are not well understood yet. With the aim to shed light on these relatively unexamined phenomena, we collected home videos showing natural flows with wood as the main solid component. Analyses of these videos as well as the watersheds and streams where the videos were recorded allowed us to define for the first time WLF, describe the main characteristics of these flows and broaden the definition of wood transport regimes (adding a new regime called here hypercongested wood transport). According to our results, WLF may occur repeatedly, in a large range of catchment sizes, generally in steep, highly confined single thread channels in mountain areas. WLF are typically highly unsteady and the log motion is non‐uniform, as described for other inorganic sediment‐laden flows (e.g., debris flows). The conceptual integration of wood into our understanding of flow phenomena is illustrated by a novel classification defining the transition from clear water to hypercongested, wood and sediment‐laden flows, according to the composition of the mixture (sediment, wood, and water). We define the relevant metrics for the quantification and modelling of WLF, including an exhaustive discussion of different modelling approaches (i.e., Voellmy, Bingham and Manning) and provide a first attempt to simulate WLF. We draw attention to WLF phenomena to encourage further field, theoretical, and experimental investigations that may contribute to a better understanding of flows river basins, leading to more accurate predictions, and better hazard mitigation and management strategies

Teaching molecular genetics: chapter 4—positional cloning of genetic disorders

Positional cloning is the approach of choice for the identification of genetic mutations underlying the pathological development of diseases with simple Mendelian inheritance. It consists of different consecutive steps, starting with recruitment of patients and DNA collection, that are critical to the overall process. A genetic analysis of the enrolled patients and their families is performed, based on genetic recombination frequencies generated by meiotic cross-overs and on genome-wide molecular studies, to define a critical DNA region of interest. This analysis culminates in a statistical estimate of the probability that disease features may segregate in the families independently or in association with specific molecular markers located in known regions. In this latter case, a marker can be defined as being linked to the disease manifestations. The genetic markers define an interval that is a function of their recombination frequencies with the disease, in which the disease gene is localised. The identification and characterisation of chromosome abnormalities as translocations, deletions and duplications by classical cytogenetic methods or by the newly developed microarray-based comparative genomic hybridisation (array CGH) technique may define extensions and borders of the genomic regions involved. The step following the definition of a critical genomic region is the identification of candidate genes that is based on the analysis of available databases from genome browsers. Positional cloning culminates in the identification of the causative gene mutation, and the definition of its functional role in the pathogenesis of the disorder, by the use of cell-based or animal-based experiments. More often, positional cloning ends with the generation of mice with homologous mutations reproducing the human clinical phenotype. Altogether, positional cloning has represented a fundamental step in the research on genetic renal disorders, leading to the definition of several disease mechanisms and allowing a proper diagnostic approach to many conditions

Fibrodysplasia Ossificans Progressiva: what have we achieved and where are we now? follow-up to the 2015 Lorentz Workshop

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics

Mutations in DSTYK and dominant urinary tract malformations.

ABSTRACT Introduction Congenital abnormalities of the kidney of the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and their etiology is poorly understood. Methods We performed genome-wide linkage analysis and whole-exome sequencing in a family with autosomal dominant congenital abnormalities of the kidney of the urinary tract (7 affected family members). We also performed sequence analysis in 311 unrelated patients, as well as histologic and functional studies. Results Linkage analysis identified five regions of the genome that were shared among all affected family members. Exome sequencing identified a single rare deleterious variant within these linkage intervals, a heterozygous splice-site mutation in dual serine/threonine and tyrosine protein kinase (DSTYK). This variant, which resulted in aberrant gene product splicing, was present in all affected family members. Additional independent DSTYK mutations, including nonsense and splice-site mutations, were detected among 7/311 unrelated patients. DSTYK is highly expressed in the maturing epithelia of all major organs, localizing to cell membranes. Knockdown in zebrafish resulted in multi-organ developmental defects, resembling loss of fibroblast growth factor (FGF) signaling. Consistent with this finding, DSTYK colocalizes with FGF receptors in the ureteric bud and metanephric mesenchyme. Finally, DSTYK knockdown in human embryonic kidney cells inhibited FGF-stimulated ERK-phosphorylation, the principal signal downstream of receptor tyrosine kinases. Conclusions We detected DSTYK mutations in 2.2% of patients with congenital abnormalities of the kidney and urinary tract whom we studied, suggesting that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling