Medicina clinica
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Multicenter Study
[Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units].
To evaluate the management of phenylketonuria (PKU) in Spanish metabolic units and to develop a patients registry. ⋯ This study allows for the first time the evaluation of the PKU management by Spanish PKU Follow-up Units, as well as the analysis and registry of controlled PKU patients. The study makes evident the need of adult Follow-up Units and the importance of neonatal screening for PKU patients prognosis.
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Laminopathies are a group of diseases that share wrong codification of lamins, building proteins of the nuclear lamina. Different tissues are affected in those disorders: striated muscle, adipose tissue, central or peripheral nervous system and aging process. ⋯ The last decade has seen an increasing interest and scientific advances on laminopathies that will allow us to answer key questions regarding metabolism, insulin resistance, sudden death and aging. Laminopathies are reviewed in this article from a molecular, pathogenic and clinical point of view.
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The aim of this work is to describe the health-related quality of life (HRQOL), and to analyze the associated factors to overweight/obesity in a representative sample of the Catalan population 0-14 years old. Proxyrespondents answered the child's questionnaire of the Encuesta de Salud de Cataluna (ESCA) 2006 (n = 2.200). Variables analyzed were weight and height, the KIDSCREEN-10 HRQOL questionnaire, and also scales on risky behaviors, physical activity, frequency of fast food consumption, and number of hours of television viewing. ⋯ Risky behaviors and restriction of activity were the associated factors to the best and the worst HRQOL. Maternal level of education and some habits and behaviors were associated to overweight/obesity. The ESCA contributes with useful information to monitor and to assess interventions addressed to the children population.