BackgroundFabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, globotriaosylsphingosine (LysoGb3), we aimed to provide a metabolic picture of classic Fabry disease from the neonatal period to childhood.MethodsLysoGb3 was assessed at different times in two brothers with classic Fabry disease (genotype c. 370–2 A > G). The firstborn was diagnosed after clinical onset at 11 years of age, whereas the second-born was diagnosed in the neonatal period. LysoGb3 was measured in dried blood spots by high-sensitive electrospray ionization liquid chromatography tandem mass spectrometry.ResultsBlood LysoGb3 concentrations were consistent with patients’ age and clinical picture, with lower levels in the asymptomatic neonate (19.1 ng/ml) and higher levels in the symptomatic child (94.3 ng/ml). In the second-born, LysoGb3 doubled during the first 5 months of life (37.4 ng/ml), reaching ~40% concentration observed in the symptomatic period. The neonatal LysoGb3 concentration in classic Fabry disease exceeded that observed in normal subjects by over 15 times.ConclusionsA substantial increase of LysoGb3 was documented during the first months of life in classic Fabry disease, suggesting an early plateau during the pre-symptomatic period. Such a progressive metabolic trend during the pre-symptomatic period implies the potential definition of a metabolic threshold useful for a preventive therapeutic approach of classic Fabry disease. Additionally, the consistent increase of LysoGb3 in the neonatal period in classic Fabry disease suggests LysoGb3 as a useful marker for improving the specificity of newborn screening for Fabry disease.

Esta comunicación procura realizar una aproximación al concepto de riesgos psicosociales en el lugar de trabajo y abordar algunos de los supuestos más habituales, con los que puede encontrarse el psicólogo en su práctica profesional. De hecho, el principal objetivo es facilitar una introducción al tema de riesgos psicosociales en el entorno laboral y plantear algunos de esos riesgos (ej. estrés laboral, Burnout, mobbing) que puedan ser de interés para los profesionales en Psicología y  Recursos Humanos. Asimismo, se describe –someramente- el contexto legal existente en Uruguay para abordar estos fenómenos. La importancia del estudio de estos factores radica en que la vigilancia y control sobre la salud laboral de los trabajadores, ha puesto de manifiesto que los riesgos presentes en el entorno laboral -y que suponen un importante peligro para la salud de las personas- no proceden exclusivamente de los factores físicos, sino que los factores psicosociales son muy importantes e influyen en la salud y el bienestar, es decir, en los estados de estrés que originan procesos físicos y / o psicológicos. Por último, se discute sobre la importancia de la prevención de riesgos laborales, como una herramienta útil para hacer frente a este tipo de situaciones.