39 research outputs found

    Hispanics in the United States at the dawn of the twenty-first century : a growing, yet underdeveloped force

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    Al despuntar el nuevo siglo, la población hispana en los Estados Unidos se ha convertido en el grupo étnico más numeroso de esa nación. Su crecimiento es vigoroso, debido tanto a su alta\ud tasa de natalidad como a la sostenida inmigración latinoamericana de las últimas tres décadas, que\ud parece extenderse hacia el futuro próximo. Sin embargo, la situación socioeconómica de esta población adolece de serios problemas estructurales que reflejan una elevada tasa de desempleo, una estructura ocupacional adversa, ingresos bajos, altos índices de pobreza, educación formal\ud deficiente e insuficiente a todos los niveles, poco dominio del idioma inglés e inferiores niveles de participación política en comparación con los otros grupos étnicos. El gran enigma que confrontan analizadores y dirigentes políticos por igual se relaciona a la capacidad de incorporación eventual\ud del segmento hispano al resto de la población. El asunto es sumamente complejo, pues los hispanos no presentan una estructura monolítica; antes bien, existen profundas diferencias culturales e históricas que incluyen no solamente lugar de origen y concentración en diferentes regiones del\ud país, sino también gran heterogeneidad dentro de cada grupo

    Early prediction of phenotypic severity in Citrullinemia Type 1

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    Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn period and individuals with a mild‐to‐moderate or asymptomatic disease course. Since the phenotypic severity has not been predictable early during the disease course so far, we aimed to design a reliable disease prediction model. Methods We used a newly established mammalian biallelic expression system to determine residual enzymatic activity of argininosuccinate synthetase 1 (ASS1; OMIM #215700) in 71 individuals with CTLN1, representing 48 ASS1 gene variants and 50 different, mostly compound heterozygous combinations in total. Residual enzymatic ASS1 activity was correlated to standardized biochemical and clinical endpoints available from the UCDC and E‐IMD databases. Results Residual enzymatic ASS1 activity correlates with peak plasma ammonium and L‐citrulline concentrations at initial presentation. Individuals with 8% of residual enzymatic ASS1 activity or less had more frequent and more severe hyperammonemic events and lower cognitive function than those above 8%, highlighting that residual enzymatic ASS1 activity allows reliable severity prediction. Noteworthy, empiric clinical practice of affected individuals is in line with the predicted disease severity supporting the notion of a risk stratification‐based guidance of therapeutic decision‐making based on residual enzymatic ASS1 activity in the future. Interpretation Residual enzymatic ASS1 activity reliably predicts the phenotypic severity in CTLN1. We propose a new severity‐adjusted classification system for individuals with CTLN1 based on the activity results of the newly established biallelic expression system

    On the Determinants of Fiscal Non-Compliance: An Empirical Analysis of Spain's Regions

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