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RESUMENLa forma infantil de la enfermedad de Pompe conduce al óbito antes del año de vida por miocardiopatía o insuficiencia ventilatoria. Presentamos la experiencia de siete años de terapia de reemplazo enzimático en un niño diagnosticado a los 7 días de vida; se trata del seguimiento más prolongado en el país. El tratamiento fue bien tolerado, sin reacciones adversas asociadas. Los parámetros ecocardiográficos y electrocardiográ-ficos se normalizaron progresivamente en el primer año y se mantuvieron estables. El niño logró rolar y sentarse sin sostén, pautas que se perdieron a partir del tercer año. Ingresó en respirador a los 16 meses. Se mantiene vivo con 7 años de edad, con debilidad muscular generalizada grave. El niño superó notablemente la edad promedio de sobrevida y de ingreso a respirador. Fue clara la mejoría cardíaca, pero el beneficio sobre el músculo esquelético fue limitado. Palabras clave: enfermedad de Pompe, terapia de reemplazo enzimático, alfa-glucosidasa ácida, Argentina, Myozyme ® . SUMMARYThe infantile form of Pompe disease drives children to death before the first year of life due to cardiomyopathy and respiratory insufficiency. We present the seven-year follow-up experience with enzyme replacement therapy on a child with Pompe disease, being the longest follow-up in the country. The treatment was well tolerated without adverse reactions. The echocardiographic and electrocardiographic parameters clearly improved during the first year and remain stable. Motor milestones (like rolling over or sitting down without support) were initially achieved, but, after the third year were getting lost. The average age of ventilator dependence was also delayed (16 months). The 7-year old patient remains alive with severe generalized muscle weakness. The child notably overcame the average age of survival and onset of ventilator dependence. Although the cardiovascular improvement was clear, enzyme replacement therapy efficacy on skeletal muscle was limited in this patient. INTRODUCCIÓNLa enfermedad de Pompe tiene una incidencia global de 1 en 40 000 1 y se hereda de forma autosómica recesiva. Se genera por el déficit de la enzima lisosomal alfa-glucosidasa ácida, que hace que el glucógeno lisosomal se acumule anormalmente, lo cual afecta a los elementos contráctiles de las fibras del músculo esqueléti-co y cardíaco. 2 La forma infantil de la enfermedad de Pompe se caracteriza por hipotonía, debilidad muscular y miocardiopatía, aunque también se aprecia dificultad para alimentarse, retraso motor, hepatomegalia y dificultad respiratoria. Generalmente, estos niños mueren antes del año de vida 3,4 por fallo cardiorrespiratorio. 5 El mayor avance en el tratamiento de la enfermedad de Pompe fue el desarrollo de la terapia de reemplazo enzimático, que consiste en realizar infusiones periódicas de alfa-glucosidasa ácida humana recombinante.El objetivo del presente artículo es presentar la experiencia de siete años de seguimiento de un niño con enfermedad de Pompe infantil, en tratamiento con terapia de reem...

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A fatty acid-binding protein (FABP) from the cytosolic fraction of the triatomine Dipetalogaster maximus (Uhler) flight muscles was purified by a procedure based on gel filtration, reverse-phase high performance liquid chromatography, and sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). The protein has an apparent molecular mass of 14 kDa, and its N-terminus is unblocked. Its N-terminal sequence was obtained by submitting an SDS-PAGE band blotted onto a polyvinylidene difluoride membrane to Edman degradation. The sequence obtained indicates that this FABP belongs to the heart type. This is the first time that a fatty acid-binding protein has been reported for a triatomine. The presence of said FABP, abundant mitochondria, and lipid stores in the flight muscles of D. maximus suggests that beta oxidation of fatty acids is used by the triatomine thoracic muscle as an energy source, and could be related to its dispersal capacity.

Aim The aim of the present study is to determine the intake of total sugars (TS) and added sugars (AS) in Argentina based on the local data of the Latin American Study of Nutrition and Health (ELANS). Methods This is a cross‐sectional study of a representative sample of the urban Argentine population (n = 1266). The sample was stratified by age group (15–65 years), gender, geographic region and socioeconomic level (SEL). TS and AS intake were obtained by two 24‐hour recalls (R24) and analysed using the Nutrition Data System for Research Software 2013. Results On average, TS consumption in Argentina was 114.3 g/day, accounting for 39.8% of the total carbohydrate intake and 20.6% total energy (TE) intake. Overall, 77.2% of the TS intake consisted of AS (90.4 g/day), contributing to 30.4% of total carbohydrate intake and 15.9%TE. Men consume more TS and AS (in g/day), with no difference in the AS %TE between men and women. The consumption of sugars decreased with age, with adolescents consuming more AS and older adults more intrinsic sugars. The intake of AS was higher in low SEL. Conclusions In Argentina, the intake of AS was 50% above the recommendations. Younger and socially vulnerable people are at higher risk of excessive intake.

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Non-caloric sweeteners are food additives that can be added to food and beverages, in substitution of sugar, thus allowing to decrease energy content and free sugars intake. However, many health care professionals have questioned the safety of these additives for human consumption. Therefore, it is crucial that health care professionals become familiar with the characteristics of each non-caloric sweetener (chemical structure, absorption profile, metabolism, and route of excretion) and with the findings of the detailed safety assessments done prior to their approval, so that they can be a reliable source of scientific information for their patients. The purpose of this article is to provide a better understanding of the safety assessment process of non-caloric sweeteners prior to their approval, which includes determining the non-observed adverse effect level and the acceptable daily intake.