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Search Results: 1 - 10 of 463001 matches for " Enna; Barrios garcía "
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Galactosemia: diagnóstico de 5 casos con deficiencia de transferasa
Gutiérrez García,Enna; Barrios garcía,Bárbara; Carrillo Estrada,úrsula; Lantigua Cruz,Aracely;
Revista Cubana de Pediatr?-a , 2001,
Abstract: the biochemical study of 5 children who were referred to the national center of medical genetics because they were clinically suspected of suffering from an inborn error of the carbohydrate metabolism is presented. thin layer chromatography was carried out to detect these substances in urine and a band was found at the galactose level. a high level of metabolites in blood was found on quantifying them. the final diagnosis consited in demonstrating the deficiency of erythrocytic galactose-1-phosphate uridyltransferase by the spectrophotometric method. the character of carriers of the deficient gene was also proved among the parents of the 5 children.
Valoración clínica, psicológica y de laboratorio a ni?os con hiperfenilalaninemia benigna al nacimiento
Gutiérrez García,Enna; Barrios García,Bárbara; Noel Taboada,Lugo;
Revista Cubana de Pediatr?-a , 2002,
Abstract: hyperphenylalaninemias, which are disorders in the metabolism of phenylalanine, show genetic, clinical and biochemical heterogeneity, with phenylalanine in plasma over 120 μmol/l (2 mg/dl). benign hyperphenylalaninemia has values from 240 to 600 μmol/l (4 a 10 mg/dl) with higher enzymatic activity and does not require diet therapy. a clinical and lab assessment of 32 children with this disorder at birth was made from 1989 to 1999 to find out the variations in time of serum concentrations, occurrence of some clinical symptom or sign of the disease and their intelligence quotient. the 32 studied children presented with reduction of aminoacid levels of 90 to 287 μmol/l (1, 5 mg/dl a 5, 52 mg/dl) with respect to birth levels. the majority did not show clinical symptoms or signs of phenylketonuria. average intelligence quotient was 100.6 points. it was recommended to study all the children suffering from this disease in cuba and to carry out research studies of mutations to prove the allele heterogeneity that explains the variable expressiveness in the biochemical and clinical phenotype in these children.
El estado heterocigótico para mutaciones del gen fenilalanina hidroxilasa como factor de riesgo fetal
Gutiérrez García,Enna; Barrios García,Bárbara; Arcas Ermeso,Gretsy;
Revista Cubana de Pediatr?-a , 2005,
Abstract: hyperphenylalaninemias are very heterogenous congenital errors of metabolism, both genetical and clinically. at present, more than 450 mutations are known in the phenylalanine hydroxylase gene and they are defined as the elevation of the phenylalanine levels above 120 μmol/l (2 mg/dl). the offspring of women with hyperphenylalaninemias may be affected due to the elevation of phenylalanine within the uterus by the transplacental gradient in favor of the feto. as part of our research, a study was conducted by the test of tolerance to phenylalanine in 37 mothers of children with unspecific mental retardation. it was found that 5 were heterocygotic and 2 homocygotic for the mutation of phenylalanine hydroxylase gene, which indicates a frequency higher than that of the general population. in our sample, it was observed a relation between the heterocygosis state of hyperphenylalaninemias and fetal damage.
Galactosemia: diagnóstico de 5 casos con deficiencia de transferasa
Enna Gutiérrez García,Bárbara Barrios garcía,úrsula Carrillo Estrada,Aracely Lantigua Cruz
Revista Cubana de Pediatr?-a , 2001,
Abstract: Se presenta el estudio bioquímico realizado en el Centro Nacional de Genética Médica, a 5 ni os, remitidos por sospecha clínica de padecer un error innato del metabolismo de los carbohidratos. Se les realizó la cromatografía en capa fina para la detección de estas sustancias en orina, y se halló una banda al nivel de galactosa. Posteriormente se procedió a la cuantificación del metabolito en sangre, y se detectó a éste elevado en ella. El diagnóstico final consistió en comprobar la deficiencia de la enzima galactosa-1-fosfato uridiltransferasa eritrocitaria, por el método espectrofotométrico; se comprobó también el carácter de portadores del gen deficiente, en los padres de los 5 ni os. The biochemical study of 5 children who were referred to the National Center of Medical Genetics because they were clinically suspected of suffering from an inborn error of the carbohydrate metabolism is presented. Thin layer chromatography was carried out to detect these substances in urine and a band was found at the galactose level. A high level of metabolites in blood was found on quantifying them. The final diagnosis consited in demonstrating the deficiency of erythrocytic galactose-1-phosphate uridyltransferase by the spectrophotometric method. The character of carriers of the deficient gene was also proved among the parents of the 5 children.
El estado heterocigótico para mutaciones del gen fenilalanina hidroxilasa como factor de riesgo fetal THE HETEROCYGOTIC STATE FOR MUTATIONS OF THE PHENYLALANINE HYDROXYLASE GENE AS A FETAL RISK FACTOR
Enna Gutiérrez García,Bárbara Barrios García,Gretsy Arcas Ermeso
Revista Cubana de Pediatr?-a , 2005,
Abstract: Las hiperfenilalaninemias son errores congénitos del metabolismo muy heterogéneos, tanto genética como clínicamente. Actualmente se conocen más de 450 mutaciones en el gen de la fenilalanina hidroxilasa y se definen como la elevación de los niveles de fenilalanina por encima de 120 μmol / L (2 mg / dL). La descendencia de las mujeres con hiperfenilalaninemias puede afectarse debido a la elevación de fenilalanina dentro del útero por el gradiente transplacentario a favor del feto. En nuestra investigación se realizó un estudio por prueba de tolerancia a la fenilalanina en 37 madres de ni os con retraso mental inespecífico, y se encontró que 5 eran heterocigóticas y 2 homocigóticas para la mutación del gen de la fenilalanina hidroxilasa, lo que indica una frecuencia mayor que en la población general. En nuestra muestra se encontró relación entre el estado de heterocigosis de las hiperfenilalaninemias y el da o fetal. Hyperphenylalaninemias are very heterogenous congenital errors of metabolism, both genetical and clinically. At present, more than 450 mutations are known in the phenylalanine hydroxylase gene and they are defined as the elevation of the phenylalanine levels above 120 μmol/L (2 mg/dL). The offspring of women with hyperphenylalaninemias may be affected due to the elevation of phenylalanine within the uterus by the transplacental gradient in favor of the feto. As part of our research, a study was conducted by the test of tolerance to phenylalanine in 37 mothers of children with unspecific mental retardation. It was found that 5 were heterocygotic and 2 homocygotic for the mutation of phenylalanine hydroxylase gene, which indicates a frequency higher than that of the general population. In our sample, it was observed a relation between the heterocygosis state of hyperphenylalaninemias and fetal damage.
Valoración clínica, psicológica y de laboratorio a ni os con hiperfenilalaninemia benigna al nacimiento
Enna Gutiérrez García,Bárbara Barrios García,Lugo Noel Taboada
Revista Cubana de Pediatr?-a , 2002,
Abstract: Las hiperfenilalaninemias, alteraciones en el metabolismo de la fenilalanina, poseen heterogeneidad genética, clínica y bioquímica, con fenilalanina en plasma, mayor de 120 μmol/L (2 mg/dL). La benigna tiene valores entre 240 y 600 μmol/L (4 a 10 mg/dL) con mayor actividad enzimática y no requiere tratamiento dietético. Se realizó una valoración clínica y de laboratorio a 32 ni os con esta alteración al nacimiento entre 1989 y 1999, para conocer variaciones en las concentraciones séricas en el tiempo, presentación de algún síntoma o signo clínico de la enfermedad y el coeficiente de inteligencia de estos. Los 32 ni os estudiados presentaron disminución de niveles del aminoácido, con respecto al nacimiento, entre 90 y 287 μmol/L (1, 5 mg/dL a 5, 52 mg/dL). La mayoría no mostró síntomas o signos clínicos de fenilcetonuria. El coeficiente de inteligencia promedio fue de 100,6 puntos. Se recomienda el estudio a todos los ni os con esta alteración en Cuba y realizar estudios de mutaciones para demostrar la heterogeneidad alélica que explicara la expresividad variable en el fenotipo bioquímico y clínico en estos ni os. Hyperphenylalaninemias, which are disorders in the metabolism of phenylalanine, show genetic, clinical and biochemical heterogeneity, with phenylalanine in plasma over 120 μmol/L (2 mg/dL). Benign hyperphenylalaninemia has values from 240 to 600 μmol/L (4 a 10 mg/dL) with higher enzymatic activity and does not require diet therapy. A clinical and lab assessment of 32 children with this disorder at birth was made from 1989 to 1999 to find out the variations in time of serum concentrations, occurrence of some clinical symptom or sign of the disease and their intelligence quotient. The 32 studied children presented with reduction of aminoacid levels of 90 to 287 μmol/L (1, 5 mg/dL a 5, 52 mg/dL) with respect to birth levels. The majority did not show clinical symptoms or signs of phenylketonuria. Average intelligence quotient was 100.6 points. It was recommended to study all the children suffering from this disease in Cuba and to carry out research studies of mutations to prove the allele heterogeneity that explains the variable expressiveness in the biochemical and clinical phenotype in these children.
Caracterización molecular de fenilcetonúricos cubanos
Gutiérrez García,Enna; Barrios García,Bárbara; Gutiérrez Gutiérrez,Reinaldo; Damiani Rossel,Astrea;
Revista Cubana de Pediatr?-a , 2002,
Abstract: up to the present, over 500 mutations in human phenylalanine hdroxylase gene distributed along its 13 exons have been described, being exon 7 the one that has the highest number. the fact that phenylketonuria is caused by point mutations makes it necessary to use a method of rapid analysis of each individual. this study analyzes genomic dna of 28 patients suffering from phenylketonuria and their parents from different regions of cuba. amplification by the polymerase chain reaction was made in the 13 exons before applying denaturating gradient gel electrophoresis and sequencing. sixteen different mutations were found in 91% of patient?s independent chromosomes and the most frequent mutations were e280k and r261q that comes from galicia. mendel′s inheritance was proved in the patients′ parents. the most frequent mutations found in cuba do not match with those in spain and latin america.
Caracterización molecular de fenilcetonúricos cubanos
Enna Gutiérrez García,Bárbara Barrios García,Reinaldo Gutiérrez Gutiérrez,Astrea Damiani Rossel
Revista Cubana de Pediatr?-a , 2002,
Abstract: Hasta el momento se han descrito más de 500 mutaciones en el gen de la fenilalanina hidroxilasa humana (PHA), distribuidas a lo largo de sus 13 exones, y es el 7 el que posee un número mayor. El hecho de que la fenilcetonuria sea causada por mutaciones puntuales, hace necesario la utilización de un método que permita el análisis rápido de cada individuo. En este estudio se analizó el ácido desoxinucleótico (DNA) genómico de 28 pacientes fenilcetonúricos (PKU) y a sus padres, provenientes de diferentes partes de Cuba. Se realizó amplificación mediante reacción en cadena de la polimerasa (PCR) en los 13 exones, antes de efectuar el método de electroforesis en geles de gradientes desnaturalizantes (DGGE) y secuenciación. Se hallaron 16 mutaciones diferentes en el 91 % del total de cromosomas independientes de los pacientes, y fueron las mutaciones más frecuentes la E280K y la R261Q, que es originaria de Galicia. Se comprobó la herencia mendeliana en los padres. Las mutaciones más frecuentes en Cuba no coinciden con las de Espa a y América Latina. Up to the present, over 500 mutations in human phenylalanine hdroxylase gene distributed along its 13 exons have been described, being exon 7 the one that has the highest number. The fact that phenylketonuria is caused by point mutations makes it necessary to use a method of rapid analysis of each individual. This study analyzes genomic DNA of 28 patients suffering from phenylketonuria and their parents from different regions of Cuba. Amplification by the polymerase chain reaction was made in the 13 exons before applying denaturating gradient gel electrophoresis and sequencing. Sixteen different mutations were found in 91% of patient’s independent chromosomes and the most frequent mutations were E280K and R261Q that comes from Galicia. Mendel′s inheritance was proved in the patients′ parents. The most frequent mutations found in Cuba do not match with those in Spain and Latin America.
Análisis iconográfico preliminar de fragmentos de las vasijas estilo códice procedentes de Calakmul
García Barrios, Ana;
Estudios de cultura maya , 2011,
Abstract: the codex style vessels were elaborated during second half of 7th century and the beginning of 8th century a.c., in the area of "cuenca del mirador" that includes cities like nakbé, tintal, pacaya and calakmul. in this city, in the past last years, there has been a recovery of more than 700 ceramic fragments, which have a great stylistic similarity with many of the thematic ceramics which are in private collections and museums, all of them coming from the massive sacking during 70's years. between the subjects recognized in the fragments of calakmul, it can be found different episodes from the myth of god of maíz, as well as the launching of "baby jaguar" or unen b'ahlam, along with other subjects where the old god participates, and the title widely used in these vessels designates a group of power known as chatan winik.
Chaahk y el Pájaro O' en el periodo Clásico y en narraciones coloniales
García Barrios, Ana;
Estudios de cultura maya , 2009,
Abstract: during the maya classic period we can find some referentes to a bird named o', that seems to be related to chaahk. this bird is part of the name of this god on an inscription at ek' balam and in many more at yaxchilan, where it seems to be the patron god. the importance of this mythological bird might be seen by the number of references to it during the colonial period, as in el ritual de los bacabes, where this bird is described being part of symbolic structures associated to the rain god too: the tree and the four cardinal points. this bird also appears in texts related to healing.
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