RESUMEN
A boy with failure to thrive and isolated pancreatic amylase deficiency is described. Immunoprecipitation confirmed only salivary isoamylase in duodenal fluid at ages 20 and 33 months. Because normal pancreatic amylase messenger RNA was detected by reverse-transcriptase polymerase chain reaction in the fluid, failure of the normal maturation of pancreatic amylase secretion may explain the deficiency.
Asunto(s)
Amilasas/deficiencia , Insuficiencia de Crecimiento/etiología , Páncreas/enzimología , Insuficiencia de Crecimiento/enzimología , Humanos , Lactante , MasculinoRESUMEN
We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.
Asunto(s)
Trastornos Congénitos de Glicosilación/diagnóstico , Hipoglucemia/etiología , Preescolar , Trastornos Congénitos de Glicosilación/dietoterapia , Trastornos Congénitos de Glicosilación/genética , Trastornos Congénitos de Glicosilación/metabolismo , Suplementos Dietéticos , Femenino , Humanos , Hipoglucemia/metabolismo , Manosa/uso terapéutico , Mutación Puntual , Análisis de Secuencia de ADNRESUMEN
This study was undertaken to assess the short-term effects of EGF on sodium and glucose uptake, glucose metabolism and Na+/K(+)-ATPase activity in isolated enterocytes of rats. Jejunal cells exposed to EGF had a significantly greater total uptake of sodium compared to controls after 6 min. Kinetic analysis of glucose transport across BBMV's demonstrated similar Km values but a significant increase of the Vmax in vesicles prepared from cells first exposed to EGF as compared to controls. EGF was also associated with a significant increase in glucose metabolism of jejunal enterocytes after 15 min. The activity of Na+/K(+)-ATPase increased in jejunal enterocytes exposed to EGF. The increase in Na+/K(+)-ATPase activity of the cells following EGF exposure was not accompanied by an increase in immunodetectable total or assembled Na+/K(+)-ATPase protein. EGF's effect on enzyme activity was abolished by removing NaCl from the incubation solution, and by preincubating the enterocytes with phlorizin prior to addition of EGF. Preincubation with amiloride did not inhibit the effect of EGF on Na+/K(+)-ATPase. The results confirm that EGF promotes uptake of both sodium and glucose by the jejunal mucosal cells, and suggest the effect of EGF on glucose and sodium is mediated through the brush-border membrane glucose-sodium transporter. The increase in Na+/K(+)-ATPase activity that occurs with EGF appears to be secondary to a rise in intracellular Na+ concentration. The short-term effects of EGF on glucose and sodium transport by the small intestine may have potential therapeutic implications.
Asunto(s)
Factor de Crecimiento Epidérmico/farmacología , Yeyuno/efectos de los fármacos , Proteínas de Transporte de Monosacáridos/metabolismo , Amilorida/farmacología , Animales , Células Epiteliales , Epitelio/efectos de los fármacos , Epitelio/metabolismo , Femenino , Glucosa/metabolismo , Yeyuno/citología , Yeyuno/metabolismo , Florizina/farmacología , Ratas , Ratas Sprague-Dawley , Sodio/metabolismo , ATPasa Intercambiadora de Sodio-Potasio/metabolismoRESUMEN
Se presenta un método sencillo para determinar la edad gestacional de los recién nacidos, basado solamente en cuatro características: la cápsula vascular anterior del cristalino, los surcos de la planta de los pies, el nódulo mamario y la firmeza del papellón auricular. La valoración crítica realizada mediante adecuados análisis estadísticos, demostró que se trata de un método útil de gran valor práctico, presentando unos límites de confianza del 95% correspondiente a 11 días. Dicho método es aplicable a todos los recién nacidos, incluso patológicos, en cualquier momento de los primeros 2 días de vida