3 research outputs found

    Longitudinal Tidal Dispersion Coefficient Estimation and Total Suspended Solids Transport Characterization in the James River

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    The longitudinal dispersion coefficient is a parameter used to evaluate the effect of cross-sectional variations on substance mixing mechanisms in estuaries influenced by tide, wind and internal density variations. Considering a two dimensional approach, this study aims at evaluating a tidal area of the lower James River at approximately 19 miles upstream from the mouth at the Chesapeake Bay, in the City of Newport News, and applies an experimental procedure based on in-situ salinity concentrations to estimate the dispersion coefficient in the area where receives a discharge from the HRSD James River Wastewater Treatment Plant, and further characterizes Total Suspended Solids (TSS) mixing and transport mechanisms in the surrounding area. In-situ data collection was carried out twice a day during two consecutive days (July 21st and July 22nd, 2016) to measure salinity, turbidity, temperature and velocity. Subsequently, Control Volume (CV) approach method with Steady State Response Matrix (SSRM) was applied to characterize the transport mechanism of Total Suspended Solids among eight segments in the study area, with two of them acting as boundary conditions. Statistical General Linear Model (GLM) method was used to develop in-situ correlationship between Turbidity and Total Suspended Solids from historical HRSD James River plant data series during the years 2001 through 2015. Then measured Turbidity values were used to estimate corresponding Total Suspended Solids concentrations used in the study. The results obtained during this research suggest that in the study area of the James River, dispersive mechanisms of Flood cycles influence the transport of TSS towards the upstream, reducing the effect of advective movement from the Warwick River towards the lower reach of the James

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

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    WOS: 000481590200024PubMed ID: 31427717Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER) [PI15/01159]; Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); Catalan Association for Rett Syndrome; Fondobiorett; Mi Princesa RettWe thank all patients and their families who contributed to this study. The work was supported by grants from the Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER, PI15/01159); Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); the Catalan Association for Rett Syndrome; Fondobiorett and Mi Princesa Rett
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