Concurrieron a la ceremonia diversas personalidades en representación de la Academia Nacional de Ciencias, la Academia Nacional de Medicina, la Academia Peruana de Salud, la Academia Peruana de Cirugía, la Universidad Nacional Mayor de San Marcos y la Universidad Peruana Cayetano Heredia; así también, editores de revistas médico–científicas, miembros del Consejo Consultivo de la Revista, person...

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS...

An 18-month-old girl presented with recurrent episodes of encephalopathy, starting from the third postnatal day, and delayed development. Her parents were nonconsanguineous. She had microcephaly, generalized hypotonia, brisk stretch reflexes, extensor plantar response, choreiform movements, and dystonia of hands and feet. Evaluation showed metabolic acidosis and hyperammonemia. Tandem mass spec...

BACKGROUND Plasma methylmalonic acid (MMA) is a specific marker for functional cobalamin deficiency. This deficiency can give rise to non-specific but serious symptoms in childhood such as developmental delay, convulsions and failure to thrive and may even lead to irreversible neurological damage. AIM OF THE STUDY To analyse plasma MMA concentrations in Dutch children and to evaluate possible...

Lifelong employment commitments are a relatively uncommon employment contract. We …nd that three factors can explain their existence in academia – (i) non-contractibility of output, (ii) discipline-speci…c investment by a faculty member that enhances the chance of high output within the profession but that also signi…cantly diminishes the faculty member’s outside-occupation alternatives and (ii...

One of the goals of the recent workshop, “An Eye on Glaucoma: New Opportunities for Treatment,” was to highlight areas of glaucoma research that, with appropriate funding, are ripe for major advancement for prevention, diagnosis, and treatment. Another goal was the exploration of collaborative partnership and the process for facilitating translation of these areas, not just for glaucoma but for...