Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review.

Hereditary familial hypobetalipoproteinemia (FHBL) is a syndrome caused by variants in the APOB gene, that cause a defect in the secretion and mobilization of liver lipids to peripheral tissues, associated with the synthesis of truncated ApoB100 apolipoproteins. This condition causes significant reduction in total cholesterol (TC), low-density lipoproteins (LDL), very low-density proteins (VLDL) and serum triglyceride levels, with unchanged high-density lipoprotein (HDL) cholesterol levels. Herein we present the case of a middle-aged woman diagnosed with FHBL and hepatic steatosis, heterozygous for c.4698C>A; (p.Tyr1566Ter) variant in APOB. The variant presented herein showed high expressiveness in the two generations of individuals analyzed and has not yet being described in the medical literature. Early diagnosis and screening for associated metabolic comorbidities such as metabolic fatty liver disease and its subsequent progression to fibrosis are the two main goals in the treatment of this condition, in order to prevent medium to long term potential complications.

Feocromocitoma como causa infrecuente de acidosis láctica / Lactic acidosis as an infrequent manifestation of a pheocromocytoma

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[Impact of a brief educational intervention about nutrition and healthy lifestyles to school students given by a healthcare provider]. / Impacto de una intervención educativa breve a escolares sobre nutrición y hábitos saludables impartida por un profesional sanitario.

INTRODUCTION: Obesity is an important health concern worldwide. Spain has one of the highest pediatric obesity rates among European countries, and they are increasing, which mandates the development of innovative strategies aimed at reverting this trend and decreasing the health problems related to obesity and the considerable waste of resources foreseen for the upcoming years. OBJECTIVES: To determine if an educational intervention from a health professional would yield an additional benefit in the acquisition of knowledge on nutrition. A second objective was to determine the prevalence of weight excess as well as the lifestyle habits in a sample of school students. MATERIAL AND METHODS: Analytical, interventional, random, longitudinal, pilot study in a sample of 107 students aged 9-15 years. The weight, height, adherence to the Mediterranean diet, level of physical activity and sedentarism, and knowledge on feeding and healthy lifestyles were estimated through a questionnaire. In an intervention group (54 students) a short educational intervention was carried out by a health professional. Two months later, the knowledge on diet and lifestyle habits was reassessed in all the students. RESULTS: After the educational intervention, the students in the intervention group had better knowledge regarding feeding and healthy lifestyles than the control students, and this difference was statistically significant. CONCLUSIONS: the additional educational activities on healthy lifestyles within the scholar program given by a health professional may represent an additional benefit to the strategies aimed at decreasing pediatric obesity in our setting.

Introducción: La obesidad es un importante problema de salud a nivel mundial. España tiene una de las cifras más altas de obesidad infantil de Europa y están aumentando, lo que obliga a desarrollar estrategias innovadoras que reviertan esta tendencia y disminuyan los problemas de salud asociados a la obesidad y el enorme consumo de recursos que se prevé en los años venideros. Objetivos: Determinar si una intervención educativa por parte de un profesional sanitario aporta un beneficio adicional en la adquisición de conocimientos en materia de nutrición. Secundariamente determinar prevalencia de exceso de peso así como los hábitos de vida en una muestra de escolares. Material y métodos: Estudio piloto longitudinal analítico y de intervención aleatorizado por bloques realizado en una muestra de 107 alumnos de entre 9-15 años. Se estimaron mediante encuesta peso, talla, adherencia a la Dieta Mediterránea, grado de actividad física y sedentarismo, y conocimientos en alimentación y hábitos de vida saludables. Sobre un grupo de intervención (54 alumnos) se realizó una intervención educativa breve por parte de un profesional sanitario. Dos meses después se reevaluaron los conocimientos de alimentación y hábitos de vida saludables en todos los alumnos. Resultados: Después de la intervención educativa los alumnos del grupo de intervención poseen más conocimientos relativos a alimentación y hábitos de vida saludables que los alumnos del grupo control, y esta diferencia es estadísticamente significativa. Conclusiones: Las actividades educativas de apoyo dentro del programa escolar de estilos de vida saludable por parte de profesionales sanitarios pueden suponer un beneficio adicional en las estrategias encaminadas a disminuir la obesidad infantil en nuestro medio.