Search results for "Llar"
showing 10 items of 3592 documents
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
2014
International audience; BACKGROUND:Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.METHODS:By combining array comparative genomic hybridisation, targeted Sanger sequencing and next generation sequencing, we identified five further patients from four families with IEE due to biallelic alterations of WWOX.RESULTS:We identified eight deleterious WWOX alleles consisting in four deletions, a four base-pair frameshifting deletion, one missense and two nonsense mutations. Genotype-phenotype correl…
Application of capillary electrophoresis-mass spectrometry for determining organic food contaminants and residues.
2008
Food contamination continues to be a serious problem around the world. Surveillance of chemical contaminants in foods is important not only for public health but also because of the negative economic impact of contamination. From the analytical perspective, analysis of contaminants in food is an extremely challenging area. There is a wide variety of questions, ranging from the quantification of extremely low levels of individual components to the detailed assessment and evaluation of the analytical technique possibilities. This review considers the applications of CE coupled to MS detection (CE-MS) for the analysis of organic contaminants in food. Analytical information on sample concentrat…
Design, modeling, and simulation of a photovoltaic water pumping system
2018
Electric pumps cannot be fed in those areas where they are not connected to the electric public distribution grid. In those areas, it is useful to feed electric pumps by means of the electricity generated from renewable energy sources plants. Among these, the Solar Water Pumping Systems feed electric pump thanks to the electricity generated by a photovoltaic plant. In this paper, a whole SWPS is fully designed, modelled, and simulated in Matlab environment. The proposed implementation is an useful tool for SWPS testing.
Control of spontaneous spiral formation in a zwitterionic micellar medium
2011
The transition from planar fronts, trigger waves or solitary pulses to spirals in excitable media, has attracted increasing interest in the past few decades, mainly because of its relevance for biological and medical applications. In this paper we describe a new and convenient method for spiral generation starting from symmetric wavefronts. By using the micelle-forming zwitterionic surfactant N-tetradecyl- N,N-dimethylamine oxide in a Belousov–Zhabotinsky solution, it is possible to control to a large extent the domains where spirals can be spontaneously generated. The mechanism responsible for the wavefront break up lies in the interaction of the propagating waves with the unexcitable regi…
Diagnostic and therapeutic aspects of hemiplegic migraine
2020
Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity. We review…
Determination of cow’s milk in non-bovine and mixed cheeses by capillary electrophoresis of whey proteins in acidic isoelectric buffers
2000
An improved method for the determination of cow's milk in non-bovine cheese is reported: electrophoresis of whey proteins in acidic, isoelectric buffers. Two background electrolytes (BGEs) have been tested: (i) 50 mM iminodiacetic acid (pH=isoelectric point=2.30 at 25 degrees C), 0.5% hydroxyethylcellulose, 0.1% Tween 20 and 6 M urea (apparent pH 3.1), E=300 V/cm, for the separation of alpha-lactalbumins (alpha-LAs); (ii) a BGE with the same composition, but supplemented with 10% Tween 20, E=450 V/cm, for the fractionation of beta-lactoglobulins (beta-LGs). Surfactants have a discriminating effect on the retention behaviour of the bovine alpha-LA and beta-LG proteins, owing to the different…
Quality Characteristics of Wholemeal Flour and Bread from Durum Wheat (Triticum turgidum L subsp. durum Desf.) after Field Treatment with Plant Water…
2015
The use of selected plant water extracts to control pests and weeds is gaining growing attention in organic and sustainable agriculture, but the effects that such extracts may exert on the quality aspects of durum wheat are still unexplored. In 2014, 5 plant water extracts (Artemisia arborescens, Euphorbia characias, Rhus coriaria, Thymus vulgaris, Lantana camara) were prepared and distributed on durum wheat cv Valbelice to evaluate their potential herbicidal effects. After crop harvesting, the major physicochemical and technological parameters of wholemeal flours obtained from each treatment were measured and compared with those from chemical weeding and untreated controls. A baking test w…
The sicilian cooperative system of wine production: the strategic choices and performance analyses of a case study
2020
Purpose The purpose of this paper is to verify whether, besides the traditional organisational models mainly implemented by wine-making cooperatives, more modern and hybrid organisational forms can be profitably applied within an increasingly competitive wine market. Design/methodology/approach The study outlined in this paper deployed a mixed method. Specifically, an archived analysis, a survey and a descriptive case study (including visits, interviews and documentary analysis) were the methodological techniques used in this study, which were “in series but integrated” between themselves. In this paper, the landscape of Sicilian wine cooperatives is described by collating and processing d…
Sustainable architecture for wine cellars
2020
Environmental sustainability in the wine sector is one of the major factors of commercial interest for consumers and producing companies. The link between wine production, territory and architectural typology of wine cellars is always more important for the food and wine sector. This work explores the connections between architecture and energy efficiency with regards to minimizing environmental impacts in wine production and the sustainable use of resources in production processes. The role of economic and cultural promotion of wine cellars with bioclimatic architecture towards the tourism industry is highlighted.
Modeling an X-ray Flare on Proxima Centauri: evidence of two flaring loop components and of two heating mechanisms at work
2003
We model in detail a flare observed on Proxima Centauri with the EPIC-PN on board XMM-Newton at high statistics and high time resolution and coverage. Time-dependent hydrodynamic loop modeling is used to describe the rise and peak of the light curve, and a large fraction of the decay, including its change of slope and a secondary maximum, over a duration of more than 2 hours. The light curve, the emission measure and the temperature derived from the data allow us to constrain the loop morphology and the heating function and to show that this flare can be described with two components: a major one triggered by an intense heat pulse injected in a single flaring loop with half-length ~1.0 10^{…