Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.

The sea urchin provides a relatively simple and tractable system for analyzing the early stages of embryo development. Here, we use the sea urchin species, Paracentrotus lividus, to investigate the role of Alix in key stages of embryogenesis, namely the egg fertilization and the first cleavage division. Alix is a multifunctional protein involved in different cellular processes including endocytic membrane trafficking, filamentous (F)-actin remodeling, and cytokinesis. Alix homologues have been identified in different metazoans; in these organisms, Alix is involved in oogenesis and in determination/differentiation events during embryo development. Herein, we describe the identification of the sea urchin homologue of Alix, PlAlix. The deduced amino acid sequence shows that Alix is highly conserved in sea urchins. Accordingly, we detect the PlAlix protein cross-reacting with monoclonal Alix antibodies in extracts from P. lividus, at different developmental stages. Focusing on the role of PlAlix during early embryogenesis we found that PlAlix is a maternal protein that is expressed at increasingly higher levels from fertilization to the 2-cell stage embryo. In sea urchin eggs, PlAlix localizes throughout the cytoplasm with a punctuated pattern and, soon after fertilization, accumulates in larger puncta in the cytosol, and in microvilli-like protrusions. Together our data show that PlAlix is structurally conserved from sea urchin to mammals and may open new lines of inquiry into the role of Alix during the early stages of embryo development

Factors Influencing Water Heating Energy Use and Peak Demand in a Large Scale Residential Monitoring Study

A load research project by the Florida Power Corporation (FPC) is monitoring 200 residences in Central Florida, collecting detailed end-use load data. The monitoring is being performed to better estimate the impact of FPC's load control program, as well as obtain improved appliance energy consumption indexes and load profiles. A portion of the monitoring measures water heater energy use and demand in each home on a 15-minute basis

A long-term time series of global and diffuse photosynthetically active radiation in the Mediterranean: interannual variability and cloud effects

Abstract. Measurements of global and diffuse photosynthetically active radiation (PAR) have been carried out on the island of Lampedusa, in the central Mediterranean Sea, since 2002. PAR is derived from observations made with multi-filter rotating shadowband radiometers (MFRSRs) by comparison with a freshly calibrated PAR sensor and by relying on the on-site Langley plots. In this way, a long-term calibrated record covering the period 2002–2016 is obtained and is presented in this work. The monthly mean global PAR peaks in June, with about 160 W m−2, while the diffuse PAR reaches 60 W m−2 in spring or summer. The global PAR displays a clear annual cycle with a semi amplitude of about 52 W m−2. The diffuse PAR annual cycle has a semi amplitude of about 12 W m−2. A simple method to retrieve the cloud-free PAR global and diffuse irradiances in days characterized by partly cloudy conditions has been implemented and applied to the dataset. This method allows retrieval of the cloud-free evolution of PAR and calculation of the cloud radiative effect, CRE, for downwelling PAR. The cloud-free monthly mean global PAR reaches 175 W m−2 in summer, while the diffuse PAR peaks at about 40 W m−2. The cloud radiative effect, CRE, on global and diffuse PAR is calculated as the difference between all-sky and cloud-free measurements. The annual average CRE is about −14.7 W m−2 for the global PAR and +8.1 W m−2 for the diffuse PAR. The smallest CRE is observed in July, due to the high cloud-free condition frequency. Maxima (negative for the global, and positive for the diffuse component) occur in March–April and in October, due to the combination of elevated PAR irradiances and high occurrence of cloudy conditions. Summer clouds appear to be characterized by a low frequency of occurrence, low altitude, and low optical thickness, possibly linked to the peculiar marine boundary layer structure. These properties also contribute to produce small radiative effects on PAR in summer. The cloud radiative effect has been deseasonalized to remove the influence of annual irradiance variations. The monthly mean normalized CRE for global PAR can be well represented by a multi-linear regression with respect to monthly cloud fraction, cloud top pressure, and cloud optical thickness, as determined from satellite MODIS observations. The behaviour of the normalized CRE for diffuse PAR can not be satisfactorily described by a simple multi-linear model with respect to the cloud properties, due to its non-linear dependency, in particular on the cloud optical depth. The analysis suggests that about 77 % of the global PAR interannual variability may be ascribed to cloud variability in winter

Efeito do tempo de cura nas características físico-químicas de presunto bísaro

O principal objetivo do presente trabalho foi determinar as características físicas e químicas de amostras de presunto curado de porco Bísaro com diferentes tempos de maturação. Os valores de pH e aw estão de acordo com as referências expressas nas especificações do presunto Bísaro, garantindo a qualidade e a segurança alimentar do produto. Os valores de SFA, bem como de MUFA entre 50 e 51% e de PUFA (11 a 12%) estão dentro do esperado para produtos similares ao suposto presunto curado Bísaro.info:eu-repo/semantics/publishedVersio

Visual Attention and Autistic Behavior in Infants with Fragile X Syndrome

Fragile X syndrome (FXS) is the leading known inherited cause of intellectual disability and the most common known biological cause of autism. Approximately 25% to 50% of males with FXS meet full diagnostic criteria for autism. Despite the high comorbidity between FXS and autism and the ability to diagnose FXS prenatally or at birth, no studies have examined indicators of autism in infants with FXS. The current study focused on indices of visual attention, one of the earliest and most robust behavioral indicators of autism in idiopathic (non-FXS) autism. Analyses revealed lower HR variability, shallower HR decelerations, and prolonged look durations in 12-month old infants with FXS that were correlated with severity of autistic behavior but not mental age

LOW REYNOLDS NUMBER AIRFOILS FOR SMALL HORIZONTAL AXIS WIND TURBINE

Este trabajo consiste en el estudio aerodinámico de 8 perfiles alares distintos; NACA 0012, NACA 4412, NREL S822, NREL S823, NREL S833, CLARK Y, SD7080 (9.2%), Wortmann FX 63-137 a bajo número de Reynolds. De manera de poder seleccionar el perfil ideal para el diseño de los álabes de un aerogenerador de baja potencia de ≈ 1 kW. Mediante el software QBlade se han analizado los valores de los coeficientes adimensionales de sustentación (CL) y arrastre (CD) a un Reynolds de 109.007 y un rango de ángulos de ataque (α) de 0° a 20°. Mientras que utilizando el software SolidWorks® se ha simulado el comportamiento del flujo de aire alrededor de los perfiles bajo distintas condiciones de cálculo, variando el refinamiento en búsqueda de la convergencia de los resultados.Finalmente, se realizó una comparación de los resultados de simulación numérica obtenidos con Flow Simulation con los del software QBlade®. De esta forma se pretende verificar las simulaciones obtenidas, a fin de seleccionar el perfil adecuado para las condiciones de estudio.This work consists in aerodynamic study of eight differents low Reynolds number airfoils; NACA 0012, NACA 4412, NREL S822, NREL S823, NREL S833, CLARK Y, SD7080 (9.2%), Wortmann FX 63-137. In order to be able to select the ideal airfoil for 1 kW horizontal axis wind turbine blades design.QBlade software has been used to obtained values of the lift (CL) and drag (CD) coefficient at the Reynolds number of 109.007 and the angles of attack (α) ranging from 0° to 20°. Moreover, SolidWorks® software allowed us simulate air flows around the airfoils to calculate its performance and capabilities. Meshing and refinement parameters was altered to obtain proper results.In the end, the simulation data obtained by Flow Simulation was compared to the data obtained by QBlade®. Afterwards, the results were presented and their validity evaluated. Ultimately, it was determined that the software performs excellently as a faithfully tool that reproduce the physical phenomenon under study, and let us select the right airfoil

Characterization of PM10 sources in the central Mediterranean

The Mediterranean Basin atmosphere is influenced by both strong natural and anthropogenic aerosol emissions and is also subject to important climatic forcings. Several programs have addressed the study of the Mediterranean basin; nevertheless important pieces of information are still missing. In this framework, PM10 samples were collected on a daily basis on the island of Lampedusa (35.5° N, 12.6° E; 45 m a.s.l.), which is far from continental pollution sources (the nearest coast, in Tunisia, is more than 100 km away). After mass gravimetric measurements, different portions of the samples were analyzed to determine the ionic content by ion chromatography (IC), the soluble metals by inductively coupled plasma atomic emission spectrometry (ICP-AES), and the total (soluble + insoluble) elemental composition by particle-induced x-ray emission (PIXE). Data from 2007 and 2008 are used in this study. The Positive Matrix Factorization (PMF) model was applied to the 2-year long data set of PM10 mass concentration and chemical composition to assess the aerosol sources affecting the central Mediterranean basin. Seven sources were resolved: sea salt, mineral dust, biogenic emissions, primary particulate ship emissions, secondary sulfate, secondary nitrate, and combustion emissions. Source contributions to the total PM10 mass were estimated to be about 40 % for sea salt, around 25 % for mineral dust, 10 % each for secondary nitrate and secondary sulfate, and 5 % each for primary particulate ship emissions, biogenic emissions, and combustion emissions. Large variations in absolute and relative contributions are found and appear to depend on the season and on transport episodes. In addition, the secondary sulfate due to ship emissions was estimated and found to contribute by about one-third to the total sulfate mass. Results for the sea-salt and mineral dust sources were compared with estimates of the same contributions obtained from independent approaches, leading to an estimate of the water content bound to the sea salt in the marine source

Fluid balance and urine volume are independent predictors of mortality in acute kidney injury.

INTRODUCTION: In ICUs, both fluid overload and oliguria are common complications associated with increased mortality among critically ill patients, particularly in acute kidney injury (AKI). Although fluid overload is an expected complication of oliguria, it remains unclear whether their effects on mortality are independent of each other. The aim of this study is to evaluate the impact of both fluid balance and urine volume on outcomes and determine whether they behave as independent predictors of mortality in adult ICU patients with AKI. METHODS: We performed a secondary analysis of data from a multicenter, prospective cohort study in 10 Italian ICUs. AKI was defined by renal sequential organ failure assessment (SOFA) score (creatinine >3.5 mg/dL or urine output (UO) <500 mL/d). Oliguria was defined as a UO <500 mL/d. Mean fluid balance (MFB) and mean urine volume (MUV) were calculated as the arithmetic mean of all daily values. Use of diuretics was noted daily. To assess the impact of MFB and MUV on mortality of AKI patients, multivariate analysis was performed by Cox regression. RESULTS: Of the 601 included patients, 132 had AKI during their ICU stay and the mortality in this group was 50\%. Non-surviving AKI patients had higher MFB (1.31 ± 1.24 versus 0.17 ± 0.72 L/day; P <0.001) and lower MUV (1.28 ± 0.90 versus 2.35 ± 0.98 L/day; P <0.001) as compared to survivors. In the multivariate analysis, MFB (adjusted hazard ratio (HR) 1.67 per L/day, 95\%CI 1.33 to 2.09; <0.001) and MUV (adjusted HR 0.47 per L/day, 95\%CI 0.33 to 0.67; <0.001) remained independent risk factors for 28-day mortality after adjustment for age, gender, diabetes, hypertension, diuretic use, non-renal SOFA and sepsis. Diuretic use was associated with better survival in this population (adjusted HR 0.25, 95\%CI 0.12 to 0.52; <0.001). CONCLUSIONS: In this multicenter ICU study, a higher fluid balance and a lower urine volume were both important factors associated with 28-day mortality of AKI patients

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype–phenotype discordance

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus. Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. A third unrelated patient showed normal neurodevelopment, adolescence-onset seizures, and ataxia, shrunken cerebellum, and ultrastructural abnormalities on skin biopsy, representing the mildest form of NEDCAS hitherto described. Exome sequencing identified the c.638dup and the novel c.1395G&gt;A BRAT1 variants, the latter causing exon 10 skippings. The p53-MCL test revealed normal ATM kinase activity. Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

Basal ganglia are subcortical grey nuclei that play essential roles in controlling voluntary movements, cognition and emotion. While basal ganglia dysfunction is observed in many neurodegenerative or metabolic disorders, congenital malformations are rare. In particular, dysplastic basal ganglia are part of the malformative spectrum of tubulinopathies and X-linked lissencephaly with abnormal genitalia, but neurodevelopmental syndromes characterized by basal ganglia agenesis are not known to date. We ascertained two unrelated children (both female) presenting with spastic tetraparesis, severe generalized dystonia and intellectual impairment, sharing a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. Whole-exome sequencing identified two novel homozygous variants, c.26C>A; p.(S9*) and c.752A>G; p.(Q251R) in the GSX2 gene, a member of the family of homeobox transcription factors, which are key regulators of embryonic development. GSX2 is highly expressed in neural progenitors of the lateral and median ganglionic eminences, two protrusions of the ventral telencephalon from which the basal ganglia and olfactory tubercles originate, where it promotes neurogenesis while negatively regulating oligodendrogenesis. The truncating variant resulted in complete loss of protein expression, while the missense variant affected a highly conserved residue of the homeobox domain, was consistently predicted as pathogenic by bioinformatic tools, resulted in reduced protein expression and caused impaired structural stability of the homeobox domain and weaker interaction with DNA according to molecular dynamic simulations. Moreover, the nuclear localization of the mutant protein in transfected cells was significantly reduced compared to the wild-type protein. Expression studies on both patients' fibroblasts demonstrated reduced expression of GSX2 itself, likely due to altered transcriptional self-regulation, as well as significant expression changes of related genes such as ASCL1 and PAX6. Whole transcriptome analysis revealed a global deregulation in genes implicated in apoptosis and immunity, two broad pathways known to be involved in brain development. This is the first report of the clinical phenotype and molecular basis associated to basal ganglia agenesis in humans