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showing 10 items of 46 documents
Phygital accessibility e next normal per il patrimonio architettonico
2021
In modi e finalità dell’uso dell’ambiente costruito, sia ordinario sia connotato da significati culturali, il COVID-19 ha accelerato cambiamenti già avviati e in cui il consolidamento della IV Rivoluzione Industriale continua a giocare un ruolo essenziale. Prefigurando gli scenari post pandemici, l’affermazione della dimensione Phygital spinge la digitalizzazione oltre l’immaterialità astratta e avulsa, cercando rinnovate connessioni e sinergie tra mondo fisico e mondo digitale collegate allo specifico luogo. Alla sfera Phygital si possono riferire i più recenti avanzamenti su accessibilità e inclusione nel patrimonio archi- tettonico: uscendo dal loop virtuale e facendo leva sulla concrete…
BLM scale for the pion transition form factor
2001
The NLO Brodsky-Lepage-Mackenzie (BLM) scale for the pion transition form factor has been determined. To achieve that, a consistent calculation up to nf-proportional NNLO contributions to both the hard-scattering amplitude and the perturbatively calculable part of the pion distribution amplitude has been performed. By combining and matching the results obtained for these two amplitudes, a proper cancellation of collinear singularities has been established and the gamma5 ambiguity problem (related to the use of the dimensional regularization method) has been resolved by using the naive-gamma5 as well as the 't Hooft-Veltman (HV) schemes. It has been demonstrated that the prediction for the p…
THE “SALT-TASTING” NEWBORN
2021
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Clinical spectrum with neonatal onset includes salt loss, hyponatremia, hypochloraemia, hyperkalaemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two forms of the disease - renal and systemic – have been described, which are genetically distinct and with wide clinical expressivity. The most severe generalized PHA1 is caused by mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC). The paper reports the case of a newborn of the first pregnancy of healthy and consanguineous Sicilian parents, with a clinical and hormonal pic…
AP5Z1/SPG4 8 frequency in autosomal recessive and sporadic spastic paraplegia
2014
Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking, have been recently reported to be associated with spastic paraplegia type 48 (SPG48). Our objective was to determine the relative frequency and clinical relevance of AP5Z1 mutations in a large cohort of 127 HSP patients. We applied a targeted next-generation sequencing approach to analyze all coding exons of the AP5Z1 gene. …
Lightweight BWT Construction for Very Large String Collections
2011
A modern DNA sequencing machine can generate a billion or more sequence fragments in a matter of days. The many uses of the BWT in compression and indexing are well known, but the computational demands of creating the BWT of datasets this large have prevented its applications from being widely explored in this context. We address this obstacle by presenting two algorithms capable of computing the BWT of very large string collections. The algorithms are lightweight in that the first needs O(m log m) bits of memory to process m strings and the memory requirements of the second are constant with respect to m. We evaluate our algorithms on collections of up to 1 billion strings and compare thei…
Lightweight algorithms for constructing and inverting the BWT of string collections
2013
Recent progress in the field of \{DNA\} sequencing motivates us to consider the problem of computing the Burrows‚ÄìWheeler transform (BWT) of a collection of strings. A human genome sequencing experiment might yield a billion or more sequences, each 100 characters in length. Such a dataset can now be generated in just a few days on a single sequencing machine. Many algorithms and data structures for compression and indexing of text have the \{BWT\} at their heart, and it would be of great interest to explore their applications to sequence collections such as these. However, computing the \{BWT\} for 100 billion characters or more of data remains a computational challenge. In this work we ad…
INVESTIGATION OF BIOTIC STRESS RESPONSES IN FRUIT TREE CROPS USING META-ANALYTICAL TECHNIQUES.
2020
In recent years, RNA sequencing and analysis using Next Generation Sequencing (NGS) methods have enabled to understand the gene expression pertaining to plant biotic and abiotic stress conditions in both quantitative and qualitative manner. The large number of transcriptomic works published in plants requires more meta-analysis studies that would identify common and specific features in relation of the high number of objective studies performed at different developmental and environmental conditions. Meta-analysis of transcriptomic data will identify commonalities and differences between differentially regulated gene lists and will allow screen which genes are key players in gene-gene and p…
Favignana Quarry Island. Mediterranean landscapes between description and transformation
2022
The essay takes a critical look at part of the extensive research on the Mediterranean landscape conducted by the authors, particularly on the architecture of the quarry landscape in Sicily. The case study investigated concerns the island of Favignana and the complex relationship that the quarry landscape has represented in the relations between this island of the Egadi archipelago and the Mediterranean basin. The essay adopts five keywords that represent many access tools for an anthropogeographical understanding of the island. The essay interprets Favignana as an island of wind and water through geography. But it extends its dimension to architecture, looking at its landscape as a single …
Taxidermal Preparations of an Extinct Sicilian Wolf Population (Canis lupus Linnaeus, 1758): Biological Studies and Restoration
2022
In last decades, biotechnologies have enabled a deep development of knowledge in all fields of life sciences, allowing the collection of a wide range of data. Furthermore, the relationship between scientific investigations and conservation actions of cultural heritage is increasingly consolidated and now it is one of the peculiar points both for sustainable restoration and use of the cultural asset, also evaluating the cultural assets as source of biological information. In this study, Sicilian wolf (Canis lupus) specimens conserved in Sicilian Natural Museums, become a source of biological information on Sicilian biodiversity, establishing specific conservative protocol developed cooperati…
The molecular profiling of solid tumors by liquid biopsy: a position paper of the AIOM–SIAPEC-IAP–SIBioC–SIC–SIF Italian Scientific Societies
2021
The term liquid biopsy (LB) refers to the use of various biological fluids as a surrogate for neoplastic tissue to achieve information for diagnostic, prognostic and predictive purposes. In the current clinical practice, LB is used for the identification of driver mutations in circulating tumor DNA derived from both tumor tissue and circulating neoplastic cells. As suggested by a growing body of evidence, however, there are several clinical settings where biological samples other than tissue could be used in the routine practice to identify potentially predictive biomarkers of either response or resistance to targeted treatments. New applications are emerging as useful clinical tools, and o…