Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio / McArdle’s disease in four pediatric patients. Diagnostic algorithm for exercise intolerance

Introducción: La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos: Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados: En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones: El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.(AU)

INTRODUCTION: McArdle’s disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec­tro­myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon ‘second wind’ in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS:The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.(AU)

Efectos de bebidas carbohidratadas y proteicas sobre la recuperación del esfuerzo / Effects of carbohydrate-protein beverages on recovery from exercise

Este artículo aporta una revisión del efecto de la coingesta de la proteína de suero de leche y proteína caseína administradas en bebidas carbohidratadas, sobre la recuperación y los parámetros del daño muscular en ejercicios de larga duración. La búsqueda se ha realizado en abril de 2013 en las bases de datos del ISI Web of Knowledge, SCOPUS, Sport Discuss, PubMed, Medline, Sportdiscus, y en las bases de datos CINDOC en las redes CTI-CSIC, RESH, DICE y DIALNET cruzando los descriptores "Exercise", "Resistance training" y "Recovery" con los términos "Ergogenic beverage", "Casein Protein" y "Whey Protein". La estrategia nutricional más respaldada es la ingesta de un preparado líquido carbohidratado en donde se combinan proteínas de diferentes fuentes sobre pruebas de esfuerzos prolongados similares a la competición tanto en deportes individuales como en colectivos, con resultados discrepantes (AU)

This manuscript shows a review about the effects of the whey and casein protein on recovery and parameters of muscle damage in long-term exercise. The search was conducted in April 2013 in the databases of ISI Web of Knowledge, SCOPUS, PubMed, Medline, SportDiscus, and databases on Spanish networks CINDOC CTI-CSIC, RESH, DICE, and DIALNET crossing the descriptors "Exercise", "Resistance training" and "Recovery" with the terms "Ergogenic Beverage", "Casein Protein" and "Whey Protein". The most used nutritional strategies are based in a carbohydrate beverage which combines different protein sources on prolonged exercise tests similar to sports competition, in both individual and collective sports, with discrepant results (AU)

Improvement of soccer nutrition knowledge about carbohydrates with posters

Objectives: To investigate and increase the nutrition knowledge about carbohydrates of elite soccer players comparing two different visual posters. Method: One hundred and two elite boys playing soccer aged 11 to 35 years (mean [±SD] age, 20.4±10.5 years), from different Spanish Soccer Club, were evaluated on a questionnaire about carbohydrate information acquired from two different posters which similar information including consumption of carbohydrate over muscle glycogen, effect of a good muscle glycogen stores and main food sources of carbohydrates. The main difference between posters was the background. Results: After the poster exhibitions, a questionnaire was used to determine if improvement in nutritional knowledge about carbohydrates occurred. The importance of muscle glycogen to reduce of fatigue and the knowledge of a good diet to enhance physical and athletic performance and to reduce fatigue were significantly found among questions. On the other hand, 96.9% of studied soccer players reported that they were very interested in nutrition but they think that their knowledge of this subject was inadequate. Furthermore, some soccer players (25.0%) were married and this group did not know how to cook due to that they had a maid being the nutrition and culinary knowledge. Conclusion: Visual poster was useful for effective tool and interventions to educate soccer players in nutritional knowledge which helps to reduce fatigue and increase performance being the sport dietitian important in the reception of the nutritional counselling from throughout and beyond their playing years in order to increase the nutritional knowledge among soccer players and their families

Objetivos: Investigar y aumentar los conocimientos de nutrición acerca de los carbohidratos de los jugadores de futbol de elite. Método: Un total de 102 futbolistas de elite varones de 11 a 35 años (media [ ± DE ] 20,4 ± 10,5 años), de diferentes Clubes Españoles de Futbol, fueron evaluados en un cuestionario sobre información, sobre los carbohidratos, adquirida de dos posters que aportan información sobre el consumo de hidratos de carbono y como afecta al glucógeno muscular, así como los efectos de unas buenas reservas de glucógeno muscular y principales fuentes de alimentos de carbohidratos. La principal diferencia entre los posters fue el fondo de ellos. Resultados: Después de las exposiciones de posters, se utilizo un cuestionario para determinar si se ha producido una mejora en el conocimiento nutricional acerca de los carbohidratos. Se encontró diferencias en tres de las cuatro preguntas relacionadas con los conocimientos de nutrición como son la importancia de glucógeno muscular para reducir la fatiga y el conocimiento de una buena dieta para mejorar el rendimiento físico y atlético y para reducir la fatiga, respectivamente. Por otro lado, un 96,9% de los jugadores estudiados reflejaron que estuvieron muy interesados en la nutrición pero ellos piensan que sus conocimientos de esta materia fueron inadecuados. Además, algunos jugadores de futbol (25,0%) estaban casados y este grupo no sabían cocinar debido a que no tienen ninguna formación en nutrición y conocimiento culinario. Conclusión: Un poster visual fue útil como herramienta y eficaz en la intervención para educar a los jugadores de futbol en el conocimiento nutricional que ayuda a reducir la fatiga y aumentar el rendimiento siendo el dietista deportivo clave en la recepción del consejo nutricional para los años de juego, lo que repercutirá en incrementar el conocimiento nutricional

Rat skeletal muscle glycogen degradation pathways reveal differential association of glycogen-related proteins with glycogen granules

Glycogenin, glycogen-debranching enzyme (GDE) and glycogen phosphorylase (GP) are important enzymes that contribute to glycogen particle metabolism. In Long-Evans Hooded rat whole muscle homogenates prepared from extensor digitorum longus (EDL, fast-twitch) and soleus (SOL, oxidative, predominantly slow twitch), it was necessary to include alfa-amylase, which releases glucosyl units from glycogen, to detect glycogenin but not GDE or GP. Up to ∼12 % of intramuscular glycogen pool was broken down using either in vitro electrical stimulation or leaving muscle at room temperature >3 h (delayed, post-mortem). Electrical stimulation did not reveal glycogenin unless alfa-amylase was added, although in post-mortem muscle ∼50 and ∼30 % of glycogenin in EDL and SOL muscles, respectively, was detected compared to the amount detected with alfa-amylase treatment. Single muscle fibres were dissected from fresh or post-mortem EDL muscles, mechanically skinned to remove surface membrane and the presence of glycogenin, GDE and GP as freely diffusible proteins (i.e. cytoplasmic localization) compared by Western blotting. Diffusibility of glycogenin (∼20 %) and GP (∼60 %) was not different between muscles, although GDE increased from ∼15 % diffusible in fresh muscle to ∼60 % in post-mortem muscle. Under physiologically relevant circumstances, in rat muscle and within detection limits: (1) The total cellular pool of glycogenin is always associated with glycogen granules, (2) GDE is associated with glycogen granules with over half the total pool associated with the outer tiers of glycogen, (3) GP is only ever weakly associated with glycogen granules and (4) addition of alfa-amylase is necessary in order to detect glycogenin, but not GDE or GP

Effect of exhaustive ultra-endurance exercise in muscular glycogen and both Alpha1 and Alpha2 Ampk protein expression in trained rats

Glycogen is the main store of readily energy in skeletal muscle and plays a key role in muscle function, demonstrated by the inability to sustain prolonged high-intensity exercise upon depletion of these glycogen stores. With prolonged exercise, glycogen depletion occurs and 5Œ-AMP-activated protein kinase (AMPK), a potent regulator of muscle metabolism and gene expression, is activated promoting molecular signalling that increases glucose uptake by muscular skeletal cells. The aim of this study was primarily to determine the effect of ultra-endurance exercise on muscle glycogen reserves and secondly to verify the influence of this type of exercise on AMPK protein expression. Twenty-four male Wistar rats, 60 days old, were divided into four experimental groups: sedentary, sedentary exhausted (SE), endurance trained (T) and endurance trained exhausted (TE). The animals ran for 10 to 90 min/day, 5 days/week, for 12 weeks to attain trained status. Rats were killed immediately after the exhaustion protocol, which consisted of running on a treadmill (at approximately 60 % Vmax until exhaustion). Optical density of periodic acid-Schiff was detected and glycogen depletion observed predominantly in type I muscle fibres of the TE group and in both type I and II muscle fibres in the SE group. Plasma glucose decreased only in the TE group. Hepatic glycogen was increased in T group and significantly depleted in TE group. AMPK protein expression was significantly elevated in TE and T groups. In conclusion, acute exhaustive ultra-endurance exercise promoted muscle glycogen depletion. It seems that total AMPK protein and gene expression is more influenced by status training (AU)

Visceral adiposity influences glucose and glycogen metabolism in control and hyperlipidic-fed animals / La adiposidad visceral influye en el metabolismo de la glucosa y el glucógeno en animales control y con alimentación hiperlipídica

Introduction: Evidences suggest that fat intake, visceral obesity and intracellular lipids are related to insulin impairment. Objective: The objective of the present paper was correlate visceral obesity and metabolic alterations in control (CTR) and hyperlipidic cafeteria diet (CFT) fed animals. Methods: After 6 months of diet treatment, liver and muscle of the male rats were utilized to determined glucose uptake and glycogen metabolism after administration of 0.4I U/kg insulin in vivo, and correlate the visceral adiposity to these two parameters. Results: Ample range of physiologic answers to body composition in metabolic profile of the both diets was found. No differences were found in glycemia and triacylglycerol after insulin action in both groups, however CFT group accumulated higher adiposity, mostly visceral fat, and showed lower glycogen content in the liver. We also found an inverse correlation between visceral adiposity and glucose uptake and a decrease of the glycogen synthase active form in the liver. CTR animals demonstrated an inverse correlation between glucose uptake and visceral adiposity in the muscle. Discussion and conclusion: It was observed a variability of metabolic alterations in animals which can be related to degree of accumulation of abdominal adiposity and ingestion of diet fats. Further studies will be required to clarify the reasons for the observed liver alterations in CFT and muscle alterations in CTR animals (AU)

Introducción: Las evidencias sugieren que la ingesta de grasas, obesidad visceral y lípidos intracelulares están relacionados con resistencia a la acción de la insulina. Objetivo: El objetivo del presente trabajo fue correlacionar la obesidad visceral con alteraciones metabólicas en los animales controles (CTR) y alimentados con la dieta de cafeteria hiperlipidica (CFT). Metodos: Después de 6 meses de tratamiento con dieta, el hígado y lo musculo esqueletico de los ratones se utilizaron para determinar la captación de glucosa y el metabolismo del glucógeno después de la administración de la insulina 0.4 UI/kg in vivo y correlacionar la adiposidad visceral a estos dos parámetros. Resultados: Una amplia gama de respuestas fisiológicas a la composición corporal era encontrado. No se encontraron diferencias en la glucemia y triglicéridos después de la acción de la insulina en ambos grupos, sin embargo CFT grupo acumuló mayor adiposidad, principalmente adiposidad visceral, y mostraron menor contenido de glucógeno en el hígado. También se encontró una correlación inversa entre la adiposidad visceral y la captación de glucosa y una disminución de la forma activa de la enzima glucógeno sintasa en el hígado. Animales CTR demostrado una correlación inversa entre la captación de glucosa y la adiposidad visceral en el músculo. Discusión y conclusiones: Se observó una gran variabilidad de alteraciones metabólicas en los animales que se pueden relacionados con las tasas de acumulación de la adiposidad visceral y la ingestión de grasas dietéticas. Más estudios serán necesarios para aclarar las razones de las alteraciones observadas en el hígado de los animales CFT y las alteraciones musculares en animales CTR (AU)

Creatine feeding does not enhance intramyocellular glycogen concentration during carbohydrate loading: an in vivo study by 31P- and 13C-MRS

The main aim of this study was to examine the hypothesis that creatine (Cr) feedingenhances myocellular glycogen storage in humans undergoing carbohydrateloading. Twenty trained male subjects were randomly assigned to have their dietssupplemented daily with 252 g of glucose polymer (GP) and either 21 g of Cr (CRGP,n=10) or placebo (PL-GP, n=10) for 5 days. Changes in resting myocellularglycogen and phosphocreatine (PCr) were determined with Magnetic ResonanceSpectroscopy (13C- and 31P-MRS, respectively). After CR-GP, the levels of intramyocellularglycogen increased from 147 ± 13 (standard error) mmol·(kg wet weight-1)to 172 ± 13 mmol·(kg wet weight)-1, while it increased from 134 ± 17 mmol·(kg wetweight)- to 182 ± 17 mmol·(kg wet weight)-1 after PL-GP; the increments in intramyocellularglycogen concentrations were not statistically different. The increment inthe PCr/ATP ratio after CR-GP (+ 0.20 ± 0.12) was significantly different comparedto PL-GP (- 0.34 ± 0.16) (p<0.05). The present results do not support the hypothesisthat Cr loading increases muscle glycogen storage (AU)

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Effect of the nucleotides CMP and UMP on exhaustion in exercise rats

The aetiology of muscle fatigue has yet not been clearly established. Administrationof two nucleotides, cytosine monophosphate (CMP) and uridine monophosphate(UMP), has been prescribed for the treatment of neuromuscular affections inhumans. Patients treated with CMP/UMP recover from altered neurological functionsand experience pain relief, thus the interest to investigate the possible effect ofthe drug on exhausting exercise. With such aim, we have determined, in exercised ratstreated with CMP/UMP, exercise endurance, levels of lactate, glucose and glycogen,and the activity of several metabolic enzymes such as, creatine kinase (CK), lactatedehydrogenase (LDH), and aspartate aminotransferase (AST). Our results show thatrats treated with CMP/UMP are able to endure longer periods of exercise (treadmillrun).Before exercise, muscle glucose level is significantly higher in treated rats, suggestingthat the administration of CMP/UMP favours the entry of glucose in themuscle. Liver glycogen levels remains unaltered during exercise, suggesting thatCMP/UMP may be implicated in maintaining the level of hepatic glycogen constantduring exercise. Lactate dehydrogenase and aspartate aminotransferase activity is significantlylower in the liver of treated rats. These results suggest that administrationof CMP/UMP enable rats to endure exercise by altering some metabolic parameters (AU)

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Effects of 5-hydroxydecanoate and ischemic preconditioning on the ischemic-reperfused heart of fed and fasted rats

This investigation aimed to assess whether the mitochondrial ATP-sensitivepotassium channel blocker 5-hydroxydecanoate (5-HD) could abolish the protectionconferred by fasting and ischemic preconditioning (IPC) and to ascertainwhether these effects are associated with glycogen breakdown and glycolytic activity.Langendorff perfused hearts of fed and 24-h fasted rats were exposed to 25 minischemia plus 30 min reperfusion. IPC was achieved by a 3 min ischemia plus a 5 minreperfusion cycle. 5-HD (100 µM) perfusion begun 5 min before IPC or 13 minbefore sustained ischemia in the non preconditioned groups. Fasting improved thereperfusion recovery of contraction, decreased the contracture and the lactate production,increased glycogenolysis and did not affect the percentage of viable tissue.5-HD abolished the effects of fasting on the contractile recovery but did not affectthe contracture. 5-HD decreased the lactate production in the fed group, increasedthe preischemic glycogen content in both nutritional groups and did not affect theischemic glycogen fall. IPC improved the contractile function but prevented thecontracture only in the fed group, reduced lactate accumulation and glycogenolysisand evoked an increase of the viable tissue. 5-HD abolished the effects of IPC on thecontractile recovery and did not affect its effect on the contracture, lactate production,glycogenolysis and viable tissue. These data suggest that the mitocondrial ATPsensitivepotassium channel is involved in the effects of fasting and IPC on the contractilefunction but the other cardioprotective and metabolic effects appear evokedthrough other mechanisms. Also suggest that besides the inhibition of the mitochondrialpotassium channel, other mechanisms mediate the effects of 5-HD (AU)

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Metabolismo en el ayuno / Fasting metabolism

El ayuno es la situación metabólica existente por la mañana después de una noche sin comer. Ante la falta de ingreso de nutrientes, el organismo pone en marcha unos mecanismos conducentes a la producción de sustratos energéticos que aseguren el metabolismo cerebral y otros órganos vitales, y disminuye simultáneamente el consumo periférico, con el objetivo teleológico de la supervivencia. Si el ayuno se prolonga en el tiempo, los procesos metabólicos van cambiando en sus características cualitativas y cuantitativas, de manera que se modifican los productos energéticos consumidos (glucosa, ácidos grasos libres y cuerpos cetónicos), disminuye globalmente su oxidación y tras la depleción inicial de glucógeno hepático y muscular y el catabolismo proteínico, la fuente principal de glucosa es el hígado mediante la gluconeogénesis. Los sustratos provienen inicialmente del catabolismo proteínico y la lipólisis, pero más adelante la destrucción proteínica se ralentiza, maximizándose la lipólisis. En los últimos años se han producido avances en el conocimiento de los mecanismos implicados. Así, se conoce mejor el umbral de glucemia necesario para comenzar la cascada de eventos. Pero, sobre todo, el descubrimiento de la leptina, la implicación del neuropéptido Y, los amplios y diversos cambios hormonales, así como sus repercusiones sobre variados aspectos del metabolismo, están ayudando a comprender los mecanismos íntimos del ayuno (AU)

Valoración histoquímica de glucógeno hepático en el toro de lidia / Histochemical valuation of hepatic glycogen in bullfight

Se estudia la cantidad y distribución del glucógeno hepático en 30 animales de raza bovina, de 4 años de edad, lidiados en plazas de toros permanentes de la Región de Murcia. Los niveles de glucógeno en los hígados de los animales lidiados son menores que en los controles y la distribución en el lobulillo hepático es centrolobulillar a diferencia de los animales control, que es panlobulillar, lo que indica que en las zonas perilobulillares es donde primero comienza la formación de glucosa a partir del glucógeno y su liberación a la circulación sanguínea. Además se observa una menor cantidad de glucógeno hepático en los animales con mayor debilidad durante la lidia (AU)